by Zach Davis, Stuart Enoch, PhD, Noor Sash, PhD u.a.
Everything you ever wanted to know about medicine – in one package!
Lecturio’s “Medicine Flat Rate” includes all current and prospective medical courses. It will provide you with invaluable guidance and comprehensive support for your study and training – not only for medical students, but also for nurses and non-medical practitioners.
You will get access to an impressive variety of lectures held by renowned experts, such as the editor-in-chief of The American Journal of Medicine, Prof. Joseph Alpert.
Our team of highly qualified medical professionals will guide you through the following main topics:
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COVID-19, also known as Coronavirus disease, is a respiratory infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV 2). Transmission mainly occurs via direct contact or aerosol droplets. The disease may present asymptomatically or with fever and dry cough.
Fractures of the cervical spine are common in polytrauma patients. Any patient presenting with neck pain post-trauma should be evaluated for the possibility of a cervical spine injury and/or fracture. Cervical spine fractures are more common in young men and are commonly seen in those injured in automobile accidents. In this article, we will focus on cervical spine fractures and the common forms of spinal cord injuries associated with such fractures.
Injuries due to cold weather are common among children and athletes who are involved in exercises and sports that are usually played in extremely cold conditions. Frostbite is defined as a direct freezing injury to the peripheral tissues and occurs when the skin temperature drops below -0.5 C. Common sites of frostbite including the nose, ears, fingers, and toes. These regions of the human body are far from the body’s core and are more likely to undergo vasoconstriction if they become too cold. Hypothermia can be defined as a drop in the core body temperature below 35 C. In this article, we will discuss the prevention and management of hypothermia and frostbite injury.
There are two common hyperglycemic emergencies encountered in diabetic patients; namely, diabetic ketoacidosis and hyperosmolar hyperglycemic state syndrome. Diabetic ketoacidosis is responsible for more than 110,000 hospital admissions per year in the United States. The estimated mortality of diabetic ketoacidosis is 2%. The hyperosmolar hyperglycemic state has a mortality rate of 20%. Because of the hyperglycemic crisis, every future doctor should have the essential information about these emergencies.
Ovarian torsion is defined as the complete or partial rotation of the adnexal supporting organ around its axis.
It is associated with blood supply compromise and ischemic injury in the ovary which occurs following reduced venous return that causes edema of the ovarian tissue, hemorrhage and compromised arterial supply that leads to death of the tissues.
Most cases of ovarian torsion involve both the ovaries and the fallopian tubes. Isolated ovarian or fallopian tube torsion is rare and has an estimated incidence of one in 1.5 million women.
The hyperosmolar hyperglycemic state is characterized by severe hyperosmolality, hyperglycemia, and dehydration. Patients in a hyperosmolar hyperglycemic state do not have ketoacidosis. Diabetic ketoacidosis, on the other hand, is characterized by hyperglycemia, dehydration, and acidosis due to ketone bodies accumulation in the blood; thus, the condition was also known as hyperosmolar non-ketotic state (HONKS) or non ketotic hyperosmolar states (NKHS)
Head injuries can be generally classified into serious or non-serious. Non-serious head injuries account for the majority of the cases. In the United States, the estimated annual incidence of non-serious head injuries is around 1300 per 100,000. In the following article, you will learn everything about the symptoms of traumatic brain injury and understand the principles of minor and major head injuries.
Cerebral edema is a common condition that usually presents as a consequence of a local or systemic pathology rather than a primary condition. Cerebral edema is defined as the excess accumulation of water in the intracellular and extracellular spaces of the brain. In this article, you will get a great overview of the types and medical treatment of cerebral edema.
Altered mental status (AMS) is a common presentation to the emergency department that comprises a group of clinical symptoms rather than a specific diagnosis. Patients with AMS present with cognitive, attention, arousal, or consciousness disruption. To understand emergency medicine, you should gain essential information about altered mental status.
The eyes can be affected by a number of congenital malformations which can present as an isolated anomaly or in a syndromic association. In this article, we will cover some common congenital malformations of the eye and the ocular adnexa.
At the emergency department, it is quite common to see a patient presenting with seizures. In this article, we will cover the following topics: seizures’ management at the emergency department, management and diagnostic workup for the first seizure, and epilepsy emergencies.
Septic arthritis is characterized by the infection of the joint. Infections of the bones and joints are uncommon and can be fatal. Therefore, septic arthritis is a medical emergency. Because of the high fatality rate in septic arthritis, any case of arthritis should be considered as septic until proven otherwise. The key to the successful treatment of septic arthritis is the early diagnosis and treatment.
Retinopathy of prematurity (ROP) is a condition that is characterized by progressive nature and is only seen in premature infants of low birth weight. The condition is caused by the formation of fibrous tissue behind the lens, hence the old term “retrolental fibroplasia”. Infants affected by ROP develop severe visual impairment or can become blind.
Rheumatic diseases are related to or caused by an abnormal immune response that commonly involves autoantibodies. The detection of these autoantibodies in the laboratory evaluation of a patient suspected to have a rheumatic disease can help in confirming the diagnosis and monitor the prognosis or response to treatment in rheumatic diseases.
In this article, we will talk about the most important neoplastic diseases of the soft tissues including tumors of the lipid tissue, fibroblast, muscle tissue, synovial cell sarcoma, and dystrophin diseases. Moreover, we will also cover the topics of primary and specific amyloidosis.
Diabetic ketoacidosis is a common problem in type 1 diabetics and can be the presenting feature of newly-diagnosed diabetes. The typical patient with diabetic ketoacidosis is an adolescent or a child who is ill and who is presenting to the emergency department. In this article, you will gain a great overview of the diabetic management at the emergency department.
Coagulation is a dynamic process. The concept of blood coagulation started to emerge in the medical literature in 1960. In that year, Davie, Ratnoff, and Macfarlane published an article that described for the first time a cascade of events that outline the coagulation process. Hemostasis can be defined as the arrest of bleeding. The term derives from two Greek words that mean blood and stop. The process of hemostasis is maintained by complicated interactions between the coagulation and anticoagulation systems in addition to the platelets and blood vessel wall.
In this article, we will cover the most common diseases of the biliary tract. Because this is an introductory article, we will only discuss the definition of such diseases, the clinical presentation, and the diagnostic workup.
In this article, we will talk about the microscopic anatomy part of the kidney known as the collecting duct system. The collecting duct system consists of a series of tubules and ducts that connect the nephrons to a minor calyx or to the renal pelvis. This collecting duct system, as the name implies, is responsible for the reabsorption and excretion of different electrolytes and for fluid balance in our bodies “collecting”.
Cardiac arrest is a condition in which there is circulatory collapse due to a pulseless heart. Therefore, a patient in cardiac arrest should not have a pulse. The four cardiac rhythms that are known to produce a pulseless cardiac arrest are ventricular fibrillation, rapid ventricular tachycardia, pulseless electrical activity and asystole.
Viral conjunctivitis is a common cause of a painful, watery, pink eye. This self-limiting condition is usually caused by adenovirus. Herpes simplex virus, varicella-zoster virus, picornavirus, poxviruses, and the human immunodeficiency virus can also cause viral conjunctivitis. In this article, you will gain a great overview of the symptoms and treatment of viral conjunctivitis for the best medical exam preparation.
Upper or lower extremity injuries are common in polytrauma patients. Recognition, assessment, and management of extremity injuries are sometimes not given priority in the management of a polytrauma patient. In this article, we will talk about the most important extremity injuries which are defined as either life-threatening injuries or limb-threatening injuries.
The ABCDE approach is a systematic approach to the assessment and management of trauma patients. It addresses the patency of the airway, breathing, circulation, assesses disability and evaluates exposure to the offending injury. The ABCDE approach is a clinical one that is often supported and aided by radiological investigations that utilize plain radiography, computerized tomography, and ultrasound.
In this article, we are going to review the most commonly used antiplatelet, anticoagulant, and fibrinolytic therapies available to the clinician. Understanding the pharmacology of these three common classes of drugs make it possible for the clinician and surgeon to provide excellent hemostasis control.
In this article, we will review bleeding disorders caused by vessel wall abnormalities, platelet functional disorders, immune thrombocytopenic purpura, and thrombotic microangiopathies. These disorders share two common features – the bleeding disorder is not caused by an abnormality in the clotting factors and they present with bleeding without an effect on the international normalized ratio (INR).
Sjogren's syndrome is a systemic chronic inflammatory disease that is characterized by infiltrative lymphocytic inflammation of the exocrine organs. Sjogren's syndrome is more common in women. Most patients are in their 50s to 60 years of age. Patients present with sicca symptoms which include xerophthalmia, xerostomia, and parotid gland enlargement.
Retinoblastoma is a highly malignant tumor of the eye that manifests in the first 3 years of life. It is considered as the most common intraocular cancer of childhood. Up to 4% of all pediatric malignancies are reported to be retinoblastomas. In the following article, you will gain an overview of the symptoms and treatment of retinoblastoma to achieve a perfect score on your next medical exam.
In rheumatology, we talk mainly about disorders of the musculoskeletal system, connective tissue diseases, inflammatory disorders, and bone disease. Musculoskeletal pain is a common feature in most rheumatological disorders and might be caused by arthritis or soft tissue inflammation. In this article, you will get an introduction to rheumatology and pseudogout and gain all essential information for your next medical exam.
Potter syndrome, also known as the Potter sequence refers to the specific appearance of the baby due to oligohydramnios which is a decrease in amniotic fluid volume which causes deformities in the fetus while in the uterus. These deformities include flattened nasal bridge, epicanthal folds, low set ears and bowed legs. It also leads to pulmonary hypoplasia. The cause has decreased the production of amniotic fluid which is required to cushion the baby against the uterine walls.
In this article, we will cover mainly the aging and age-related disorders of the retina, lens and vitreous body. Hypertensive retinopathy is a condition that is characterized by retinal vascular changes in people with elevated blood pressure. The screening for, detection, and documentation of hypertensive retinopathy in patients with established hypertension is currently considered as standard in the care of patients with high blood pressure.
In this article, you will gain a perfect overview of the distal convoluted tubule, the portion of the nephron of the kidney extending from the loop of Henle up to the collecting duct system. Furthermore, you will learn about the pathophysiology and treatment of the autosomal recessive disorders called Gitelman syndrome and Bartter syndrome for the perfect medical exam preparation.
Unilateral agenesis is defined as the complete absence of development of one kidney and ureter. The condition is usually silent and is usually detected on fetal ultrasound scan by the presence of empty renal fossa. The incidence of URA is relatively common and is due to genetic as well as maternal causes. Human renal development is initiated by the 5th week of gestation and renal agenesis occurs when the ureteric bud fails to form the ureter, the renal pelvis, and renal mesenchyme. URA is often associated with anomalies of the contralateral kidney and ureter as well.
Drowning is defined as the process of experiencing respiratory impairment from submersion or immersion in a liquid. Submersion happens when the person’s airway goes below the surface of a liquid, whereas, immersion is a mechanism of drowning that involves water splashing over the face. In this article, you will gain an overview of drowning and learn more about the pathophysiology and in-water resuscitation for the perfect emergency medicine preparation.
The gluteal region is located posterior to the pelvic girdle and extends downward on the back of the upper part of the leg as the posterior thigh and then the popliteal fossa. This region consists of the gluteal muscles, the hamstring muscles and several clinically important arteries, veins and nerves. The muscles of the gluteal region help to move the hip joint during walking, standing and sitting.
Lung cancer is notoriously one of the most common lethal tumors in the medical world. It is essential to be accustomed with the basic details about this disease. In this article, you will gain all exam-relevant information about the epidemiology, pathogenesis and clinical recognition of lung cancer.
The ABCDE approach is a systematic approach that is applicable to all emergency cases and is useful in the immediate assessment and management of trauma patients and the critically ill. Gain an overview of the initial assessment and treatment with the ABCDE approach and learn more about the current evidence and principles of the ABCDE approach to be perfectly prepared for emergency medicine.
Categorical data refers to that type of data which can be classified into groups. There are various tools and techniques that are used to analyze categorical data: pie-charts, bar charts and two-way tables (for stand-alone categorical data analysis); Chi-square test and Diagnostic-odds-ratio test (for two categorical variable relationship analysis); logistic, probit and OLS (for categorical dependent variable analysis); and simple regression (for categorical independent variable analysis).
It is common to detect proteinuria during routine urinalysis in children. Although transient proteinuria and orthostatic proteinuria are common and benign conditions, it is important to differentiate them from clinically significant proteinuria associated with renal pathology or systemic diseases. Such differentiation can be made by considering the clinical presentation and appropriate use of laboratory tests. Treatment of proteinuria usually includes that of underlying condition along with consideration of proteinuria lowering medications when indicated.
Pathology makes up about 70 % of your USMLE Step 1 prep: If you're like most students, you're probably struggling to find the right approach that works when it comes to getting started, gaining the required knowledge, and applying what you've learned so that you're really ready for test day! This article will guide you through the entire process of Pathology board exam preparation. It takes a very structured and integrated 3-step approach. You can be fully prepped in about 40 days if you study for an average of 6 hours per day – Start now!
Ankylosing spondylitis, formerly known as Bechterew’s disease or Marie-Strümpell disease, is a type of inflammatory rheumatic disease which affects mostly the spine. In the end-stage of this disease, patients suffer from complete fusion and rigidity of the spine—the so-called "bamboo spine". Here, you will find all the relevant facts on ankylosing spondylitis (AS) that you need for your rheumatology exams.
This article discusses the concept of ‘association’ in biostatistics. Measures of association assume categorical or continuous level of data. The article also discusses in detail three kinds of risks and odd ratio. Attributable risk is also known as excess risk which is calculated when individuals or subjects in a research are assembled on exposure status. Population attributable risk is also discussed which indicates reduction in an incidence which may be observed in case the whole population were completely unexposed.
This article discusses measures of association, causality relationship and different possibilities in a causal relationship. The Bradford Hill criteria comprising nine principles is also being discussed. The possibilities of a causal relationship include four principles. The article also explains reliability, validity, and related characteristics. The major threats to reliability discussed in the article include poor sampling, instability and divergence.
Mendel, an Austrian monk, worked on basic concepts in genetics which were not recognized until after his death. Rediscovery of Mendelian genetics paved the path for modern genetics. His concepts heavily relied on test crosses and the rules of probability. The addition and multiplication rules are applied to mutually elusive and independent cases, respectively. However, modern genetics is an exception from Mendel’s genetics. Discovery of multigene inheritance, multiple alleles, dominance variations and epistasis has changed the face of classical genetics to a great deal.
This article discusses the sampling distribution of mean and proportion in detail. The sampling error, sampling variability, and normal model for proportion are explained with examples. A central limit theorem which states that if the number of the sample size is large, it results in the normal distribution of mean of sample size of ‘n’ number of population, and is also included in this article. The sampling proportion of distribution and CLT has three conditions to be fulfilled for accurate computation purpose.
Regression is used to analyze the impact of certain variables (i.e., the independent variables) on some other variables (i.e., the dependent variables). Simple linear regression is used when there is one dependent and one independent variable. The multiple linear regression (MLR) method is used when there is more than one independent variable. OLS, logistic and probit regression are used when dependent variable is binary. Random effect and fixed effect regression is used when analyzing panel data.
Inferences for population mean are made using a sample mean when the population mean is unknown. There are, broadly, three ways to make inferences related to population mean: point estimation (i.e., sample mean and mean of the sampling distribution); interval estimation (i.e., confidence intervals); and hypothesis testing (i.e., two-tailed tests, upper-tailed tests, and lower-tailed tests). These methods use z-distribution when the population standard deviation is known and the t-distribution when it’s not known.
This article discusses the estimation of proportion using intervals which are used to make a measure of results for the entire population using a range of reasonable values for the population proportion. The other areas of hypothesis testing discussed in this article include the creation of a confidence interval and four steps of constructing an interval. The article also introduces terms such as confidence, margin of error, critical values and a trade-off between confidence and precision.
Categorical data refers to that type of data which can be classified into groups. There are various tools and techniques that are used to analyze categorical data: pie-charts, bar charts and two-way tables (for stand-alone categorical data analysis); Chi-square test and Diagnostic-odds-ratio test (for two categorical variable relationship analysis); logistic, probit and OLS (for categorical dependent variable analysis); and simple regression (for categorical independent variable analysis).
Congratulations on your decision to become a physician! The road from college to attending physician is a long and sometimes torturous one with road blocks and hurdles. This eBook is designed to guide you through the logistical and strategic portions of the process.
Our musculoskeletal system is a complex machinery of bones, joints, muscles, and their auxiliaries, which serve as the body's supporting structure and give the body the ability to move. Our skeletal muscles provide the moving strength and may be low or high in their muscle tone. They have different courses from origin to insertion and also differ in their function. In the following article, you will receive a concise overview of 10 important muscles of our musculoskeletal system.
Kawasaki disease is an acute infection of unknown etiology of the small to medium sized blood vessels that exclusively affect children younger than 5 years. Kawasaki Syndrome is a rare disease that affects the blood vessels of children. Kawasaki disease is not contagious, and is most common in children aged from 1–2 years old; the incidence decreasing significantly above 8 years of age. The main cause or etiology of the disease remains unknown until today; however, there are several factors that are believed to play a role in the etiology of the condition.
This article has explained the concepts of variables and data levels of measurement. There are two types of variables i.e continuous and discrete. The four scales of data measurement used in statistics are nominal, ordinal, internal and ratio measurement. Causality refers to a relation between two variables. The article has also discussed frequency and normal distribution along with examples. Central limit theorem and type I and II errors are also part of this article
Deoxyribonucleic acid known as DNA is a structural molecule which carries the genetic information of all organisms. DNA has a helical structure in which two strands of DNA twist around each other. The stability of DNA molecule is assessed by the length of the strand and the melting temperature. There are various enzymes which participate in the replication of the DNA molecule and these enzymes collectively form a complex machine known as the replisome.
The article has discussed the history and background of medical and research ethical reforms. The ethical reforms include the Nuremberg Code, the Declaration of Geneva, and the Hippocratic Oath. The reforms also include “The Belmont Report” resulting from the Tuskegee Syphilis Study. The declaration of Helsinki ties together the Nuremberg code and the declaration of Geneva. The article has also discussed pillars of research ethics and the Research Ethics Board in detail.
Bipolar disorder is a psychiatric illness characterized by periods of depression and mania/hypomania. It affects approximately 1% of the general population. The disease results from genetic mutations precipitated by environmental factors. Clinically, it varies from manic features of hyperactivity and irritability, to depressive episodes with reduced activity, lethargy and loss of interest, and a mixed picture of manic and depressive episode features. Treatment of bipolar disease involves pharmacotherapy with mood stabilizers, behavioral therapy, and electroconvulsive therapy. Mortality and morbidity are mainly due to the associated suicidal and homicidal tendencies.
Osteoarthritis is a common problem in the general population that seeks medical attention in a primary care setting. The main risk factors for osteoarthritis are a family history of the disease, the female gender, past trauma to the involved joint, aging and obesity. Because of the increasing number of obese people in the United States, family physicians are expected to see more osteoarthritis cases in the coming years.
The leading cause of death in the United States is cardiovascular disease, which has been long connected to dyslipidemia in general and hyperlipidemia in particular. Half of the American population are found to have hypercholesterolemia, while one-third of people in the United States have an elevated level of the so-called bad cholesterol known as low-density lipoprotein (LDL) cholesterol. Because of this, a significant number of those who seek medical attention in the primary care setting are expected to have some sort of hyperlipidemia that needs to be corrected.
Cell cycle refers to the process of division marked by cell growth, DNA replication, distribution of replicated chromosomes to daughter cells, followed by cell division that a cell undergoes proliferation. It consists of different phases, regulated by the cell cycle checkpoints. There are a group of enzymes and proteins that regulate and ensure the replication of DNA and cell division linking to the extracellular signals to control cell proliferation. Any defective DNA is immediately repaired, and, if unrepairable, it leads to programmed cell death (apoptosis). These proteins are, in turn, controlled by proto-oncogenes and oncogenes, whose mutation leads to cancer.
Genomics is the study of the genetic material of organisms. It includes the study of methods for knowing the location and sequence of genes. Alternative splicing is a method for gene expression that results in the formation of multiple proteins from a single gene. DNA sequence may include coding and non-coding sequence. BRCA2 gene is an important gene that codes for a protein which helps maintain genetic information by DNA repair.
The Boveri–Sutton chromosome theory states that the chromosomes are the basis of all genetic inheritance. Morgan's work with fruit flies provides a solid evidence associating a specific gene with a specific chromosome. The SRY gene is important in the sex determination of humans. It encodes a SRY protein which is responsible for male sex determination initiation. Certain human genetic disorders are sex-linked, such as color blindness and hemophilia. There are two exceptions to the chromosome theory of inheritance.
This article discusses screening tests in detail. Screening tests are conducted in order to find out or identify any disease or calamity in a person before realization of its related symptoms. It is of major importance when it is used to identify diseases which are deadly and are desired to be cured timely to avoid any dangerous consequences. The article discusses various elements of a screening test including sensitivity, specificity, false positive and negative results, positive predictive value (PPV), negative predictive value (NPV) along with examples.
The basis of any surgical discipline and radiological imaging is structural anatomy. This article envisages clarifying the basics of lower limb anatomy with focus on the gluteal region, posterior thigh and the popliteal fossa. The muscles of the gluteal region are specialized to bear weight and maintain the horizontal balance of the pelvis. The posterior thigh muscles are the lateral rotators of the hip and the popliteal fossa is responsible mainly for extension/flexion and adduction.
Myelodysplasias are a group of malignant myeloid stem cell disorders characterized by dysplasias and/or cytopenias and there is an increased risk of transformation into acute myelogenous leukemia. The pathogenesis of myelodysplasias is not completely understood but, like other neoplasms, it too involves oncogenic mutations that may arise spontaneously or as a result of environmental exposure. The diagnosis of myelodysplasia is done by finding changes in the peripheral blood smear and bone marrow aspirate. Management of myelodysplasias depends on the percentage of blast cells.
An aortic aneurysm is the abnormal widening of a part of the wall of the aortic artery leading to abnormal bulging out with or without a cause. An aortic aneurysm is a localized or diffused dilation of aortic artery usually more than 50% of its normal size. Aortic aneurysms can be classified into thoracic and abdominal aortic aneurysm with different clinical features, diagnostic criteria and management. If this bulging occurs continuously, it can result in the bursting of the artery and, eventually, haemorrhage, a condition termed as aortic dissection, which is considered a catastrophic fatal condition. Abdominal aortic aneurysms are generally caused due to infection, injury or atherosclerosis. Thoracic aortic aneurysms are caused due to injury, high blood pressure, and inherited tissue disorders.
As a physician, you could not work without models in medicine: The consequences would be chaos, randomness, and a lack of structure. On the other hand, one should not fixate on just one model in order to prevent a limited diagnostic and therapeutic spectrum. An old medical rule says: Anything helpful should be considered. Below, we are summarizing the five most important groups of models at a glance: behavioral models, bios-psychological models, the psychodynamic model, social-psychological models, and sociological models. With this, you will be perfectly prepared for exams and the preliminary examination.
Everybody is constantly exposed to small amounts of radioactive, and thus ionizing radiation. Some energy-rich radiation reaches Earth from space, slowed down by the atmosphere, but naturally radioactive substances exist here as well. In the world of medicine, radiation is used in many forms of therapy, such as X-ray exams at the dentist's office, a suspected broken bone or mammography.
Eating disorders like anorexia nervosa, bulimia nervosa, and the binge eating disorder are common diseases. Exact knowledge of the pathogenesis and symptoms of these diseases, which mostly affect young women, is crucial for a correct diagnosis and treatment. This article will help you to correctly diagnose the different eating disorders in both the second state exam and in professional life later on.
Many young couples suffer from an unfulfilled wish to bear children. Men, as well as women, may be the physiological cause of this barrenness; regardless, undesired childlessness always implies a great amount of emotional distress for both partners. The diagnostic process involves extensive testing of both the man and the woman, including a hormone analysis of the blood and physical examinations. The terminological distinction between sterility and infertility has to be considered. Treatment consists in artificial insemination techniques, such as IVF or ICSI.
During puberty, a child’s body matures into the body of an adult. During this process, pathological faults can occur. An early onset of puberty might, for example, cause dwarfism. Psychological stress of the patients is not negligible and should be taken into consideration in medical consultation. The following article provides soon-to-be physicians with a summary of puberty and its malfunctions, so that a correct diagnosis and treatment can be conducted.
Porphyrias are a group of metabolic disorders, at the bottom of which lies a disturbance in the synthesis of the heme; thereby, in most cases, it is about a hereditary enzyme defect. The disease patterns differ depending on the affected enzyme; one clinically differentiates between acute and non-acute forms. In particular, a physician should also be aware of the two most common forms of overall rare diseases as an important differential diagnosis. Below is thus an overview of the clinical manifestations, diagnosis and treatment options of the porphyria.
Spinal disc herniation is a common cause for pain syndromes in the cervical and lumbar spine. It is the most common trigger for radiculopathies which lead to pain and disturbances of sensation of the dermatomes but can also be accompanied by pareses and loss of reflexes. Both for your examinations as well as in everyday clinical life, knowledge of radicular syndromes as well as their diagnosis and treatment are highly meaningful.
EDS — a clinically heterogeneous syndrome involving a genetic defect in connective tissue structure and synthesis, specifically collagen that affects joints, skin and blood vessels, is a group of inherited disorders characterized by stretchy, fragile skin and extremely flexible joints. An even severe form of the disease involves the blood vessels and is called vascular Ehlers-Danlos syndrome. Prognosis is clearly guided by the type of EDS, however there is no cure for the disease.
Hemorrhoids cushions are normal structures of the lower rectum. They are very vascular and pathology develops when that vasculature becomes engorged (especially the veins). Itching and pain are common symptoms of hemorrhoid pathology. Hemorrhoids are classified on their origin relative to the dentate line: external (below the dentate line), internal (above the dentate line), and prolapsed internal hemorrhoids. Most hemorrhoids are treated with dietary modification (increase fiber) and stool softeners, but occasionally surgery is required.
Our body employs many mechanisms in order to maintain homeostasis. One particular term that is worth our attention when it comes to tackling homeostasis is hemostasis or the body’s tendency to prevent the contents of our intravascular compartment (blood) to leak into different compartments within the body and into the external environment. This term also refers to the body’s maintenance of the smooth flow of blood within the blood vessels. Hemostasis consists of intricate interdependent mechanisms. These have been the focus of many pharmacological studies that aim to address certain blood disorders. Read everything about it here.
Milestones of various ages provide a predictable pattern in infants and children concerning the development of their skills in each age group. Understanding of the normal child development helps clinicians to identify any symptom of delayed child development. Early identification of the developmental delays can prevent future complications, and the child can be timely referred for therapeutic services. The aim is to promote healthy development. Developmental milestones have been established in physical, social, verbal and cognitive domains.
Dermatofibroma, or benign fibrous histiocytoma, is a common cutaneous nodule that may be superficial or deep. It is the most common painful skin tumor, mostly affecting women. Although, the precise underlying etiology and mechanism for the development of this skin pathology is not well known, it is believed to be a neoplastic process owing to its clonal proliferation growth. While the patients may usually be asymptomatic, the tumor growth may exhibit rapid growth or may remain static for several years. An intervention is not called for unless the patient is symptomatic.
Diabetic glomerulopathy is the leading cause of chronic renal failure in adults. Long-standing type 1 or type 2 diabetes mellitus is associated with this microvascular complication, along with peripheral neuropathy and retinopathy. The pathology of diabetic glomerulopathy is distinguishable based on certain features, including the presence of pathognomonic Kimmelstiel-Wilson nodules, hence the term Kimmelstiel-Wilson disease. A diagnosis of diabetic glomerulopathy does not require a renal biopsy – rather, it is established based on the presence of significant proteinuria and a history of diabetes for >10 years or diabetic retinopathy. Students should be aware about this important complication of diabetes, including its pathology, pathophysiology, clinical course and management.
Children are at risk of developing osteomyelitis, an inflammation of the bone that is infectious in etiology. Neonates are more likely to develop multifocal disease while infants and children usually develop osteomyelitis of a single long bone. Patients present with fever that is associated with localized swelling, tenderness, redness and warmth over the shaft of a long bone in the leg or arm. C-reactive protein is usually elevated and x-ray or magnetic resonance imaging of the affected bone confirms the diagnosis. Antibiotic therapy is the main mode of treatment in children with osteomyelitis.
Patients with the hypoplastic left heart syndrome have a hypoplastic left ventricle, mitral and aortic valves atresia with or without coarctation of the aorta. Blood flow to the systemic circulation is dependent on a patent ductus arteriosus and a patent foramen ovale for adequate mixing of blood in the atria. The diagnosis is confirmed in cyanotic neonates by performing an echocardiography. A three-stage procedure is performed aiming to separate the systemic from the pulmonary circulation. Survival after the completion of the three-stage procedures is as high as 95%.
Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe systemic reaction that is triggered by the introduction of a new drug. Antiepileptics are the most common triggering drugs of DRESS syndrome, followed by minocycline and allopurinol. Patients usually present with a typical skin rash, fever, multiple organ involvement and leukocytosis. Eosinophilia is evident in most cases, but monocytosis can be also seen. The discontinuation of the triggering drug is the only treatment option with a proven impact on the prognosis of the patient. Immunosuppression with corticosteroids and cyclosporine has been also used in the management of DRESS syndrome.
Hair loss in children can be acquired or congenital. Acquired causes of hair loss can result in focal or diffuse alopecia. Tinea capitis, a fungal infection of the scalp, is characterized by focal patchy hair loss. Antifungal therapy usually results in hair regrowth with good cosmetic results. Children with alopecia areata, an autoimmune disorder characterized by partial or complete scalp hair loss or whole body hair loss, should receive topical or systemic immunosuppressive therapy depending on the extent of involvement. Children with congenital causes of diffuse hair loss should be closely monitored for possible syndromic associations. Finally, children who have androgenic alopecia might benefit from topical minoxidil or finasteride therapy.
Hemangiomas are considered as the most common tumors in children and they are on the spectrum of benign vascular tumors. They can be diagnosed at birth, but are more likely to become recognized after one month of birth. Hemangiomas undergo a proliferative phase which lasts between one month up to one year and an involution phase which can take years until the complete disappearance of the tumor. They can occur as red or crimson cutaneous lumps, or present with symptoms and signs suggestive of deep organ involvement. Magnetic resonance imaging is essential for the differentiation between the different types of vascular tumors, including hemangiomas. Propranolol is the first-line therapy for problematic hemangiomas. Laser surgery or excisional surgery can be used for treating large and disfiguring hemangiomas.
Atopic dermatitis is a common condition in children that is characterized by atopic eczematous skin rash that is highly pruritic. Children with atopic dermatitis might have other autoimmune disorders, such as asthma and food allergies. The diagnosis of atopic eczema due to atopic dermatitis in children is a clinical-based one with little value of laboratory investigations. Once the diagnosis is confirmed, treatment mainly consists of skin rehydration, avoidance of the possible allergens and immunosuppressive therapy in more severe cases.
The right recurrent laryngeal nerve arises from the right vagus nerve at the level of the innominate artery where it loops around the subclavian artery. The nerve then travels along the pleura to the tracheoesophageal groove between the trachea and esophagus. The left recurrent laryngeal nerve has a longer course arising from the left vagus and then loops around the aortic arch and ligamentum arteriosum to ascend parallel to the left tracheoesophageal groove.
Medical genetics involves the application of genetics for the diagnosis and management of hereditary disorders. With the advancement of medical technology, the scope of medical genetics has widened to include the gene interactions, control of gene expressions, gene variations, and environmental interactions. Genetic diseases are now categorized as classical and non-classical. Classical diseases include the chromosomal disorders, Mendelian disorders, and multifactorial disorders. In the non-classical genetic diseases, there is a single gene disorder with an atypical pattern of inheritance. They include the diseases caused by mutations in mitochondrial genes, triplet repeat mutations, genomic imprinting, gonadal mosaicism, and uniparental disomy.
Medical genetics differ from human genetics in that human genetics is a field of scientific research that, or may not, apply to medicine, while medical genetics refers to the application of genetics to medical care.
Nondisjunction connotes the failure of the separation of homologous chromosomes during cell division. It has significant repercussions and is culpable for a large share of chromosomal anomalies like aneuploidy and various hereditary syndromes. With a brief introduction to the basic structure of a chromosome and characteristics of nondisjunction, this article focuses on clinical implications of the same.
Aging is a physiologic process marked by cellular inability to respond adequately to stresses. Epigenetic changes such as reduced histone bulk, abnormal patterns of histone modification as well as abnormalities in DNA formation are some of the causative factors of aging. Another contributory factor to the aging process is the loss of proteostasis which leads to an unstable set of proteins that are toxic to cells and thus trigger the aging process. With the advancement of biomedical science, many new theories have been proposed to decode this mysterious event in a cell’s life.
Serum sickness can happen as a complication to the administration of certain antisera, such as antitoxins, antivenoms, and antibiotics. The condition is characterized by the presence of a rash that is associated with fever, arthritis, and systemic organ involvement. The condition is believed to be immune-complex mediated. Early recognition of the syndrome and adequate treatment have been associated with an excellent clinical outcome. The causative agent should be discontinued and symptomatic treatment is indicated. Immunosuppression with corticosteroids might be needed in more severe cases. Patients who are unresponsive to corticosteroids should be offered plasma exchange therapy.
Psoriasis in children is a chronic inflammatory condition of the skin that is characterized by silvery skin lesions over the extensor surfaces of the elbows and knees in children. On the other hand, seborrheic dermatitis is a chronic skin condition that is characterized by acute exacerbations and is believed to be related to an abnormal immune response to the fungus Malassezia. It is marked by patchy scales formed in sebum rich areas of the scalp, face and trunk in a pattern. Patients with seborrheic dermatitis usually present with dandruff or facial greasy skin lesions. Both conditions are diagnosed based on clinical features in children without any sophisticated laboratory evaluation. Both conditions respond to topical corticosteroids. Topical antifungal therapy has been found to be successful in the management of seborrheic dermatitis in children.
Normal puberty is marked by the maturation of the gonads, breast development in females, and adrenarche, resulting in body odor, acne and pubic and axillary hair growth. Precocious puberty is the development of secondary sexual characteristics before the age of 8 in females and 9 in males. Delayed puberty in males is the lack of testicular enlargement by 14 years old, and a lack of breast development at 13 years old in females.
Prions are small proteinacious, infectious particles that causes transmissible spongiform encephalopathies (TSEs). Prions cause a number of diseases in animals that include Mad Cow Disease, Kuru, Fatal familial insomnia, and chronic wasting disease. In this article, prions and diseases associated with them will be discussed. More emphasis will be given to Mad Cow Disease and Chronic Wasting Disease. The history of prion discovery will also be reviewed in this article.
Developmental dysplasia of the hip (DDH) is an abnormal development of the hip resulting in a spectrum of hip instability based on the displaced contact of the proximal femoral head with the acetabulum. It is the most common orthopedic disorder of the newborn and all newborns should be screened for DDH with specific physical exam maneuvers (Barlow and Ortolani tests). Early diagnosis and treatment is extremely important to preventing progression and promoting normal hip alignment.
Several inherited disorders occur as a result of defects in one single gene or due to chromosomal abnormalities; however, some disorders can occur due to defects in several genes and these traits or features can be classified as either multifactorial or polygenic. This article will discuss commonly used terminologies, their definitions, different traits, their risk assessment and examples of multifactorial disorders.
Medium-chain acyl-CoA dehydrogenase deficiency is common among the defects of fatty acid oxidation. Affected individuals present with acute hypoketotic hypoglycemia and mild hyperammonemia. Diagnosis is made through positive newborn screening, and treatment is mainly preventive. Urea cycle disorders are genetic defects. Common symptoms include vomiting, lethargy, seizures, and respiratory alkalosis. Diagnosis is through molecular genetic testing. Treatment aims to reduce ammonia concentration in plasma. Acute episodes can be prevented through a dietary restriction of protein.
Orbital fractures are common in pediatrics and can be isolated or combined with craniofacial fractures. Associated injuries are usually evident and should be excluded in any child who presents with an orbital fracture. A computed tomography scan is usually sufficient in identifying the type of the orbital fracture and in excluding urgent neurological injuries such as intracranial bleeding. Type 1 pure orbital fractures should be treated conservatively, type 2 craniofacial fractures can be treated conservatively, but a vigorous follow-up scheme should be used, and type 3 common pattern fractures are usually treated surgically in children.
Shock in children is a common presentation to the emergency department. Shock can be classified according to the etiology into hypovolemic, cardiogenic, distributive, and obstructive. Hypovolemic shock due to hemorrhage or intravascular fluid losses and septic shock are the most commonly seen types of shock in children. The diagnostic workup and the physical examination of the child should aim to assess the severity of shock and to identify the most probable etiology. Securing the airway and breathing should have priority in the management of shock in children. The circulation should be improved by fluid expansion with fluid replacement therapy or inotropic therapy. Administration of antibiotics in septic shock should be started as early as possible.
Pediatric trauma is common in children and accounts for most of the deaths in children younger than 1 year of age. While head trauma is the leading cause of death in children, most children with significant traumatic injuries have multiple injuries.
Congenital tracheoesophageal fistulas are a common congenital anomaly that is usually diagnosed prenatally or during the neonatal period. The condition is usually characterized by an esophageal atresia associated with a communication between the trachea and the esophagus. Maternal polyhydramnios is commonly seen in cases of esophageal atresia. The diagnosis can be confirmed prenatally by ultrasonography or postnatally by a chest X-ray or a computed tomography scan. Early surgical repair is recommended in all healthy infants.
Type 2 diabetes mellitus is becoming more recognized in children, especially African American, American Indian and Asian children. Obesity is another very important risk factor for type 2 diabetes mellitus in children. Children with type 2 diabetes usually have a family history of the disease, are obese, have signs suggestive of insulin resistance, and have the typical symptoms of diabetes, such as polyuria and polydipsia. The symptoms, however, are usually of a more insidious onset compared to type 1 diabetes mellitus. Diet, lifestyle modifications and monotherapy with metformin are the main treatment options for type 2 diabetes mellitus in children.
Hyperthyroidism in children is a rare condition. The most common etiology is Graves’ disease. Children usually present with weight loss, heat intolerance, sweating and hyperactivity. Symptoms and signs suggestive of congestive heart failure are rare in children. Thyroid function testing is indicated to confirm the diagnosis of hyperthyroidism and the treatment of choice is antithyroid medication. Surgical management with subtotal thyroidectomy should be reserved for children with severe hyperthyroidism who do not respond to medical therapy.
Primary ovarian insufficiency is a term that describes impaired ovarian function over a continuum and can include several disorders such as hypergonadotropic hypogonadism, ovarian dysgenesis, and premature ovarian failure. The endpoint of primary ovarian insufficiency is usually premature menopause. Premature menopause is defined as the onset of menopause in a woman before the age of 40 years. The diagnosis of premature menopause is confirmed by obtaining two serum follicle-stimulating hormone tests that are above 30 U/L and that are one month apart in a woman of 4 to 6 months’ history of amenorrhea.
Adrenal insufficiency is defined as inadequate production of adrenocortical hormones (glucocorticoids, mineralocorticoids, and adrenal androgens). Adrenal insufficiency can be primary or secondary. Primary adrenal insufficiency (Addison's disease) is caused by diseases in the gland itself, and the most common cause is autoimmune adrenalitis. Secondary adrenal insufficiency occurs due to decreased production of ACTH either from prolonged glucocorticoid therapy or disease in pituitary/hypothalamic glands. Glucocorticoids therapy is required for both forms of Adrenal insufficiency. Adrenal crisis is a well-recognized life-threatening complication that requires high doses of hydrocortisone and intravenous fluids.
In this article, we are going to discuss the most common causes of primary and secondary amenorrhea in adult females. We will also provide a clinical evaluation approach for these women, and establish some treatment principles related to amenorrhea.
Anxiolytics are a group of drugs that are used to treat anxiety disorders, panic disorders, and generalized anxiety disorder. Anxiolytics can be classified into antidepressant agents, benzodiazepines, and other sedative or hypnotic drugs. The use of a single drug, or a combination, is based on the severity of the symptoms of the patient and the expectations of the patient.
Truncus arteriosus is characterized by the presence of a common arterial trunk arising from both ventricles while transposition of the great arteries is a cyanotic congenital heart defect that is characterized by a pulmonary artery arising from the left ventricle and an aorta arising from the right ventricle. Patients with these two conditions are usually cyanotic and are usually diagnosed within the first few days of life. Echocardiography is the diagnostic modality of choice for the confirmation of the diagnosis in both conditions. Primary surgical repair of truncus arteriosus consists of committing the common arterial trunk to the left ventricle, while transposition of the great arteries is repaired by an arterial switch procedure. Both conditions should be repaired as early as possible, preferably within the neonatal period.
Apnea of prematurity is a condition that is believed to be caused by the immaturity of the respiratory center in the brainstem of premature babies and is characterized by periods of apnea that are longer than 20 seconds. Apnea that is less than 20 seconds but associated with significant bradycardia and/or oxygen desaturation can be also considered as apnea of prematurity. A full diagnostic workup to exclude sepsis, seizures, intracranial hemorrhage and other causes of apnea should be performed. Tactile stimulation is usually sufficient for mild apnea. Oxygen supplementation might be needed in moderate cases of apnea while medical treatment should be provided to severe cases.
Intraabdominal air can be seen on conventional abdominal x-rays, computed tomography scans of the abdomen or ultrasonography imaging. Intraabdominal air can be physiologic or pathologic. The most common cause of normal intraabdominal air is air within the gastrointestinal tract, i.e. the stomach bubble. Pathologic air can be further divided into the extraluminal, intraluminal, intraparenchymal or intramural air. Extraluminal pathologic air can be a pneumoperitoneum or free gas within the retroperitoneum. The most common cause of intramural air is pneumatosis intestinalis.
Congenital infections are common and are associated with significant morbidities for the infant. Classically, congenital infections of the infant have been given the acronym TORCH which stands for toxoplasmosis, others (syphilis, varicella-zoster virus, parvovirus B19 and human immunodeficiency virus), rubella, cytomegalovirus and herpes simplex.
Aging is a complex, mysterious but inevitable end point of a cell’s existence. Numerous theories have been propagated to expound the same; but the unequivocal evidence still eludes us. In this article, after reviewing the basics of aging, we focus on genomic instability and aging.
Aging is an insidiously progressive deterioration in the physiological integrity of a cell resulting in impaired function . With an impetus to biomedical research and advances, it has come accross a multitude of theories expatiated to reason aging. This article focuses on deregulated nutrient sensing and altered intercellular communication and their potential role in diminution of a cell’s vigor, aging and longevity of life.
Necrotizing enterocolitis is a life-threatening inflammatory condition of the bowel that is characterized by mucosal injury, bowel necrosis or perforation. The condition is more common in pre-term infants. Bowel ischemia is believed to play a key role in the pathology of the condition, especially in full-term infants.
Toilet training includes training your child to control their bladder and bowels. Girls achieve bladder and bowel control earlier than boys. Enuresis is the voluntary or involuntary voiding of urine during sleep after bladder control is expected to have been achieved. Soiling, also known as encopresis, occurs when the child fails to use the toilet for bowel motions resulting in dirty pants. It is caused by emotional stressor and chronic constipation, resulting in large stool volumes to signal the need to defecate.
Laryngomalacia is a congenital condition that is characterized by the abnormal development of supraglottic structures, such as the epiglottis. The supraglottic structures tend to collapse during inspiration, causing stridor and, in severe cases, hypoxemia. Tracheomalacia is a more serious condition of abnormally developing tracheal cartilage that is characterized by tracheal lumen collapse duration expiration.
Neonatal jaundice is very common in neonates and the decision to treat should be based on the levels of unconjugated bilirubin in the blood. Currently available charts allow for the plotting of serum bilirubin levels starting from the first 24 hours of life and can help the treating physician in deciding whether phototherapy, intravenous immune globulin therapy, or exchange transfusion is needed. The goal of treatment in neonatal jaundice is to prevent kernicterus.
Omphalocele and gastroschisis are the most common congenital anomalies seen in infants and can be diagnosed prenatally or at birth. Omphaloceles are clearly associated with genetic predisposition and chromosomal abnormalities whereas gastroschisis seems to be caused by complex interactions between genetic predisposition and environmental exposures. The main difference between the two is the gastroschisis have no covering of peritoneum but omphalocele is sealed by peritoneum.
Infants of diabetic mothers are at an increased risk of mortality and morbidity due to the association between different complications and maternal diabetes. The main problems that an infant of a diabetic mother might face include respiratory distress, growth abnormalities and hypoglycemia or hypocalcemia. Additionally, infants of diabetic mothers are at an increased risk of congenital malformations.
Neonatal abstinence syndrome is characterized by the onset of withdrawal symptoms in a neonate due to prenatal or postnatal exposure to illegal drugs or prescription drugs. The clinical presentation is usually dependent on the duration and time of exposure to the drug and not the drug itself. Meconium analysis or umbilical cord testing are the gold standard for the diagnosis of neonatal abstinence syndrome and for the confirmation of the offending drug. Pharmacologic treatment with opioids is indicated in any case of symptomatic neonatal abstinence syndrome that is caused by in-utero exposure to opiates.
Megaloblastic anemia is a type of macrocytic anemia characterized by large erythroblast cells with delayed nuclear maturation. In children, this could happen because of nutritional deficiency or intestinal malabsorption of vitamin B12 (cobalamin), folic acid or both. Pediatric megaloblastic anemia is rare compared to other types of anemia, but more significant due to some major developmental disorders if left untreated.
Infants are likely to undergo sleep problems especially during the first year of life. Nightmares, night terrors, infant colic, and breath-holding spells are common sleep issues. While nightmares may occur at any age, the night terrors, on the other hand, are typically observed during 3—8 years of life. Approximately, 28% of infants are affected by colic. It leads to intense crying episodes in infants who are 1—6 months old. A breath-holding spell is a non-epileptic disorder of benign nature.
Iron-deficiency anemia (IAD) in children is the most common among other types of anemia. It is commonly presented in children aged between 6 - 36 months than at other age groups, according to a report. Pediatric iron-deficiency anemia might involve multiple etiological factors including low birth weight, nutritional deficiency, and gastrointestinal blood loss. Diagnosis is made on the basis of demonstration of microcytic hypochromic anemia, reduced serum iron, anisocytosis, and poikilocytosis.
Porphyria is a group of disorders that arise from a build-up of chemicals that are involved in the production of porphyrin in the human body. The porphyrins are important as these are essential components of the hemoglobin that carries oxygen to the organs and tissues of the body. When there is a high level of porphyrins in the body, different symptoms or manifestations related to porphyria show.
A femoral neck fracture is associated with high morbidity and mortality. Up to 30% of patients die in the first year following the fracture. It is more common in elderly women. The head and neck are enclosed in the joint capsule within the synovial fluid. No intracapsular callus formation upon fracture, and no periosteal layer which affects the healing process.
Spinal muscular atrophy is an autosomal recessive mutation in the survival motor neuron (SMN) gene responsible for mRNA synthesis and inhibition of apoptosis. The mutation results in a degeneration of anterior horn cells of the spinal cord and motor neurons of the brain stem, leading to lower motor neuron lesions with muscular weakness and atrophy. Both allelic mutations are necessary for the inheritance of the disease phenotype which varies in severity according to both genes SMN1 and SMN2.
Pediatric cholecystitis is an infrequent but significant pathology in children because of its association with systemic diseases and the availability of a potential cure in the form of surgery. This article envisages laying out the basics of pediatric cholecystitis with the clinical aspect being the prime focus.
Dementia is a syndrome of impairment of cognition and memory accompanied by interference of daily life activities, without a disturbance in consciousness or level of alertness. Dementia should always be differentiated from normal memory loss that occurs with ageing. This change enhanced by old age does not meet the criteria and severity for dementia that limits a person’s physical activity.
Insomnia is a sleep disorder that is marked by difficulty in the initiation, maintenance and consolidation of sleep, giving it poor quality and altered quantity. Symptoms of insomnia are seen in up to 30 % of the population, but only 10 % have severe symptoms that progress to chronic disease. The disease is largely idiopathic but genetic, environmental, social and psychiatric influences have been incriminated. Sometimes, it may be associated with a medical or psychiatric condition (secondary insomnia).
This article provides information test sitters needed for the USMLE Step 2 on the topic of neonatal resuscitation. It provides an overview to the epidemiology of neonatal resuscitation in the delivery room. The article discusses some differential causes of resuscitation need and outlines a procedural overview of resuscitation including initial stabilization, airway breathing and circulation, chest compressions and drug therapy.
Anemia is a medical condition that results from a shortage in the oxygen-carrying capacity of the blood due to a decrease in hemoglobin or number of red blood cells (RBCs). Anemia may be caused by excessive blood loss, inefficient production of RBCs, chronic disease or excessive destruction of RBCs. The type, cause, severity and background health problems are the determinants of the signs and symptoms of anemia. Anemia can be effectively managed through nutritional and medical interventions.
Attention deficit hyperactive disorder is a developmental condition of inattentiveness and easy distractibility with accompanying episodes of hyperactivity. The disease affects about 8–12 % of children in the world, while the worldwide adulthood prevalence is 4–5 %. The disease arises from genetic mutations that may occur due to toxin exposure or hypoxic-ischemic brain injury in the perinatal period. These etiologies cause neurotransmitter deficiencies or structural changes in the brain areas involved in the control of attention and mood.
Aplastic anemia is a rare disease affecting 1—2 people per one million of the population. The hallmark of the disease is peripheral pancytopenia with hypo cellular bone marrow in the absence of infiltrative disease to the bone marrow. It is classified into moderate, severe, and very severe aplastic anemia based on actual cell count. Major causes of morbidity and mortality are hemorrhage and infections. Supportive therapy focuses on the alleviation of suffering and improving the quality of life experienced by patients. Definitive treatment is mainly by stem cell transplantation.
Tics and related diseases represent a set of neurobehavioral disorders of childhood that are characterized by sudden, repeated, nonrhythmic, muscle movements that are accompanied by sounds or vocalizations. Tourette syndrome is the most severe form with the symptoms running a chronic course of more than one year. The disease is mainly diagnosed by history taking and physical examination of the characteristic tic phenomenon. Treatment involves behavioral therapy, antipsychotics, and treatment of comorbid conditions such as ADHD and OCD. The disease begins in childhood, achieves full expression in adolescence, and disappears in teenage.
Intellectual disability in children refers to a chronic condition of the developmental period involving the limitation in mental functioning and skills such as communication, taking care of oneself and others, etc. Intellectual disability results from any process that either limits the growth of the brain and maturation of cognition or any processes that are toxic to the brain and damage it. These include intrauterine growth restriction, toxin exposure, infections and placental insufficiencies. Perinatal and postnatal factors such as hypoxia, hyperbilirubinemia and infections also cause mental retardation.
Hemolytic–uremic syndrome (HUS) consists of a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal insufficiency (failure), with severity ranging from subclinical to life threatening. HUS, based on etiological agent, can be classified into classic or STEC HUS and atypical HUS. HUS is a common cause of acute renal failure in the pediatric population. In this article, etiology, pathophysiology, clinical features, diagnosis, differential diagnosis, and management of pediatric hemolytic–uremic syndrome are described.
Prenatal screening is used in clinical practice to detect the necessity for carrying out more detailed and invasive tests for the diagnosis of aneuploidies and congenital or developmental birth anomalies. Ideally prenatal screening should be made available to all pregnant women with more invasive testing being offered to those at increased risk. Ultrasonography is an excellent prenatal screening tool while prenatal diagnosis requires invasive tests like chorionic villus sampling, amniocentesis and fetal blood sampling.
Hyperkalemia is defined by the serum potassium level when it is higher than 5.5mEq/L. It is usually an incidental finding in the general population but affects 10 % of the hospitalized patients. Severe hyperkalemia is rare but catastrophic as it causes respiratory paralysis, generalized muscle paralysis and cardiac arrest.
Juvenile diabetes is a common chronic disease characterized by hyperglycemia and other metabolic abnormalities. It is more common in children and young adolescents but it occurs in any age. It is a genetic disease with environmental influences that trigger the destruction of pancreatic islet cells. Depletion of insulin levels leads to hyperglycemia, osmotic diuresis, hypovolemia, thirst, and ketoacidosis. Treatment of the disease is by administration of exogenous insulin and supportive care.
Aging is associated with a progressive decline in the functioning of the various organs. Predominant amongst these are hearing and visual loss which contribute indirectly to imbalance and ultimately lead to falls and fractures. Amongst other causes of falls is malnutrition. Most of the diseases in the elderly can be traced to a poor dietary intake, weakness and deficiencies. This article will discuss all these interrelated problems faced by the elderly.
Aging is associated with diseases and decline. Drugs are required to either cure or control these conditions; therefore, older adults end up with a box full of medications for daily consumption which help them to prolong and improve the quality of their life. This, however, increases the likelihood of drug interactions, side-effects of the different medications, mix-ups, compliance problems and drug toxicity. The physician has to be careful when prescribing to the elderly to minimize these issues.
Hypokalemia is defined as plasma potassium less than 3.5mEq/L. Only 1 % of the general population suffers from this disorder with the prevalence rising to 25 % among hospitalized patients. Some risk factors of hypokalemia include elderly patients and people who rely on food poor in potassium content, women and patients recovering from bariatric surgery.
Autosomal dominant pattern occurs in adults and is the fourth common cause of renal failure in the world. It mainly affects the kidneys, heart, brain, reproductive organs, vascular smooth muscle and small intestine.
While “positron emission computed tomography” scanning is becoming more commonly seen in the clinical practice of molecular imaging, other forms of nuclear imaging also exist that should be discussed. Magnetic resonance imaging, computed tomography, ultrasound, and X-rays are the main diagnostic imaging modalities for structural abnormalities. Nuclear imaging is more concerned with the functional and molecular aspect of the problem. For instance, nuclear imaging can answer questions related to myocardial perfusion and ischemia, differentiate between malignant and benign thyroid nodules or confirm the diagnosis of acute cholecystitis.
Hydrocephalus is a disorder of cerebrospinal fluid disequilibrium of formation, flow and absorption, resulting into an increase in the volume of fluid within the cranial cavity. Hydrocephalus arises from an increased production of cerebrospinal fluid, reduced absorption, or obstruction of the flow. Treatment is mainly surgical by placement of shunts to divert the CSF; however, medical therapies are instituted to delay the need for surgery. The most common cause of death in hydrocephalus is tonsillar herniation and resulting respiratory arrest.
The DiGeorge Syndrome results from microdeletion in a small segment of the chromosome 22. When inherited from parents, it follows autosomal dominant patterns. There are variable clinical features related to the DiGeorge Syndrome. The most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcaemia, and psychotic disorders later in adolescence.
Substance abuse is the use of drugs for unintended purposes that harmful to the consumer and/or others. Up to third of adolescents are at risk of substance abuse with a higher risk seen in neglected children, those exposed to drugs by bad influence, poor socio-economic status, and family history of drug addicts. Identification of these children is done by the CRAFFT screening tool or the CAGE questionnaire. Clinical presentation of substance abuse patients can vary based on the type of drug taken. Hyperalertness, restlessness, seizures, dilated pupils, hypertension, arrhythmias, aggressive behavior, paranoia, and tachycardia are commonly seen.
Population genetics is the study of the genetic variation in the population. Using mathematical and statistical models, molecular basis of genetics, Mendel’s laws and modern evolution, population genetics determines how the gene and allele frequency changes over time and the factors which influence it. The study helps to determine populations with a large genetic variation (and therefore more likely to adapt), versus populations with lower genetic variability (and therefore with a lesser possibility of adapting) to environmental changes.
Urinary tract infections (UTI) are an inflammatory condition of an infectious etiology that involves the urinary tract. Anatomically, it can be divided into upper and lower urinary tract infections. Most common symptoms are fever, chills and rigor, foul smelling urine and other constitutional symptoms. Different risk factors include vesico-ureteric reflux, neurogenic bladder, calculi in the urinary tract, strictures and female gender. Culture and sensitivity testing is the gold standard for the diagnosis of a UTI. Antibiotics are the treatment of choice depending on the causative organisms, drug resistance, and pharmacokinetic of the drug.
Dizziness, or the feeling of light-headedness or vertigo, is characterised by being in the state of unsteadiness or by having a feeling of whirling sensation. Dizziness can be induced by benign activities including spinning, state of disequilibrium to life-threatening disorders like infections, Dandy’s syndrome, Meniere’s disease, or due to psychiatric origins or due to anxiety. Various signs, symptoms and tests are involved in diagnosing dizziness. Currently, various pharmacological, non-pharmacological and surgical optionsare used for treatment of dizziness.
Colorectal cancer is the third most common cancer affecting the human being. It can be called as polyp-cancer sequence. Colorectal cancer is believed to occur secondary to the transformation of the mucosal epithelial cells characterized by rapid turnover. The mucosal cells protrude into the lumen as polyps which might transform into a dysplastic and invasive lesion. Adenomatous polyps are the most common colon polyps associated with malignant transformation. Herein, we will discuss the different types of colon polyps and genetic basis for colorectal cancer transformation and overview of the management strategies.
Prostate cancer in American men is one of the most common cancers. According to American Cancer Society statistics, there have been about 26,730 deaths as a result of prostate cancer, and the newly diagnosed cases are about 161,360. Prostate cancer, the third leading cause of death in American men, is seen in older men. The average age at which most of the cases are diagnosed is 66.
Skin lesions have a broad range of etiology and can be complex in diagnosis due to their similar appearance on inspection. Cutaneous T-Cell lymphoma is a rare skin disease that presents with several distinct manifestations. Most common of this manifestation is Mycosis Fungoides and Sezary syndrome. Mycosis fungoides is a slow progressing set of mushroom shaped skin lesions, while Sezary syndrome is a rapidly progressing generalized skin disease with a worse prognosis.
Fever is an elevation in the body temperature above the normal temperature
range which is 97°F (36.1°C) to 99°F (37.2°C). Fever is a common symptom with a wide etiology that includes infection, trauma, autoimmune disorders, malignancies, and drug-related among others. Fever is a protective mechanism of our body to protect against the pathogens that have entered our body.
These are a group of congenital malformations that involve the cranial cavity and the central nervous system.The Dandy-Walker variant is the commonest posterior fossa malformation, while craniosynostosis is the premature fusion of one or more of the cranial sutures causing abnormal shape of the head. They present with hydrocephalus and features of increased intracranial pressure, thus, the goal of therapy is to relieve the pressure. The main modalities of treatment are surgical interventions either endoscopically or under direct vision via scalp incisions.
Post-traumatic Stress Disorder is a condition that is usually seen after experiencing a severe traumatic event that threatens the individual’s life or physical integrity. The estimated prevalence of post-traumatic stress disorder in the United States is around 8 - 10%. The diagnosis of the condition is based on the DSM-5 criteria. Laboratory and imaging studies might be performed for research purposes, but are not clinically indicated. Treatment is mainly based upon cognitive behavioral therapy and eye movement desensitization and reprocessing therapy. Beta-blockers or anti-depressants might be indicated in some cases.
The commonly encountered pediatric orthopedic leg problems include Blount’s disease, Legg–Calvé–Perthes Disease (LCPD), Slipped Capital Femoral Epiphysis (SCFE) and Osgood-Schlatter Disease (OSD). Combinations of genetic and environmental factors often play a role in their occurrence. The diagnosis is usually clinical and the treatment plan is divided into medical and surgical options. Medical therapy constitutes the conservative measures, whereas surgery is more useful in cases of SCFE. In all other cases, surgery is done optionally. All of the disorders carry a good prognosis if the treatment is vigilantly started on a priority basis.
Ataxia results from disturbed voluntary muscle coordination, leading to unsteady gait, clumsiness and imbalance. It could be due to neurological or metabolic disease or pseudo ataxia due to weakness, acute illness or anxiety. Neurological causes of ataxia include disorders of the cerebellum, basal ganglia, cerebral cortex or the deep sensation pathway.
Scoliosis is the name given to the curved spine. The condition is common in the pediatric population. It is classified into three types: idiopathic, congenital and secondary. It is important to diagnose and start immediate treatment in many cases as the spine can continue to curve with the growth of a child.
Osteogenesis Imperfecta is a congenital disease that causes brittle bones. The manifestation of the condition can vary from mild to severe and hence, the symptoms can range from weak bones to hearing loss, and massive bone deformities.
Neutropenia refers to a decreased neutrophil count. When Neutropenia occurs, the body becomes incapable of defending itself from the invasion of organisms like viruses, bacteria or fungi. This leads to the manifestation of signs and symptoms of infectious processes going on inside the body. There are many types of Neutropenias; broadly divided into the inherited and acquired forms. Many laboratory investigations and treatment options are available. They are selected on the basis of etiology and the duration of illness.
The Clubfoot and Metatarsus Adductus are common musculoskeletal disorders in newborn babies. The etiology is not well known but is considered a combination of genetic and environmental factors. The two disorders are slightly different from each other: Metatarsus Adductus is a milder condition and has higher chances of spontaneous resolution than the clubfoot. The common treatment options involve manipulation and casting. Surgery is reserved for severe and resistant cases.
Disseminated Intravascular Coagulation (DIC) is a systemic, life-threatening process associated with both thrombosis and hemorrhage, and it is caused by a wide range of defined disorders. The basic pathology is the activation of coagulation cascade where all the clotting factors get utilized in the formation of excessive clot, resulting in profuse bleeding. For this reason, it is also known as consumptive coagulopathy. Diagnosis can be made clinically, with aid of laboratory investigations to confirm the diagnosis.
In Hypercoagulability disorder, the risk of thrombus formation in the body is raised. The number of procoagulants is increased that promote clot formations in the vessels of the body. The primary cause is genetic and cannot be cured, but therapies are given to reduce the level of procoagulants. The secondary cause involves diseases or conditions producing a hypercoagulable state of blood. For those, it is necessary to control the underlying disease or condition. Hypercoagulability needs an active and thorough treatment plus monitoring as it can lead to harmful consequences.
Hemophilia is a X-linked disorder, inherited in a recessive pattern. Hemophilia A and B are the two main types. The male sex is affected commonly as the disease is transmitted through the X chromosome. Deficiency of the clotting factor VIII and IX is the cause of Hemophilia A and B, respectively. Haemarthrosis is a common symptom, besides a list of other hemorrhagic symptoms. Early investigations and diagnosis is a pre-requisite for an effective treatment.
ITP is a disorder that causes bleeding as a result of the lowered platelet count. The acute type is more common in children and the cause is unknown. It has more chances of spontaneous settlement without any specific pharmacological therapy. The chronic form continues for more than 6 months, it is linked to the defective immunological processes. Diagnosis is mostly clinical and some laboratory tests are performed. Treatment consists of general measures and specific medicines. Splenectomy is reserved for the resistant cases of ITP.
Nursemaid’s Elbow occurs in children due to weak ligaments. The elbow gets partially dislocated and the child can’t continue the movements through the affected side. There is an associated pain and discomfort. Minor force can cause the condition without any history of trauma or any injury. Diagnosis is made from the history and clinical presentation. The acute cases can be treated with analgesics and closed reduction while the chronic may require an open reduction.
Hyperthyroidism in children is a rare condition. The most common etiology is Graves’ disease. Children usually present with weight loss, heat intolerance, sweating and hyperactivity. Symptoms and signs suggestive of congestive heart failure are rare in children. Thyroid function testing is indicated to confirm the diagnosis of hyperthyroidism and the treatment of choice is antithyroid medication. Surgical subtotal removal of the thyroid gland should be reserved for children with severe hyperthyroidism who do not respond to medical therapy.
CHARGE Syndrome is a rare genetic disorder in children affecting almost all body systems due to an impaired gene expression as a result of inherited mutations in the specific genes. CHARGE is an abbreviation of Coloboma, Heart defects, Atresia choanae, growth retardation, genetic abnormalities and ear abnormalities. There is no curative therapy for the syndrome. VACTERL Association stands for vertebral abnormalities, anal atresia, cardiac defects, tracheoesophageal abnormalities, renal anomalies and limb abnormalities. It is a rare disorder. The exact genetic alterations are still not clear.
SIADH is characterized by hyponatremia, serum hypoosmolality and increased urine osmolarity. SIADH is a disease characterized by a decrease of the amount of volume expansion as a consequence of excess renal water reabsorption through excess of antidiuretic hormone secretion. The symptoms of SIADH are mainly due to the effect of hyponatremia on the brain. The diagnosis of SIADH is dependent on the exclusion of other causes of hyponatremia, the confirmation of hyponatremia and the documentation of hypoosmolality. Fluid restriction is the first line therapy for SIADH, followed by an increased solute intake in refractory cases. Loop diuretics might be indicated in patients who do not respond to these measures.
Diabetes insipidus can be caused by central etiologies or by the renal tubular resistance to the effects of vasopressin. Absolute deficiency of vasopressin or vasopressin resistance is associated with renal tubular inability to uptake water and the production of large amounts of diluted urine. Patients become dehydrated and, depending on the severity of dehydration, their symptoms might differ. Treatment of central diabetes insipidus includes desmopressin with or without thiazide diuretics. Nephrogenic diabetes insipidus is treated with a low-solute diet combined with thiazide diuretics and indomethacin or aspirin.
In this article, etiology, pathophysiology, clinical features, diagnosis, differential diagnosis, and treatment of painful testicles in children are described. Acute scrotum is subject to a sudden onset of pain in the scrotum or its contents, accompanied by local signs such as swelling and redness. Many conditions can present with this clinical picture, which explains why this is a diagnostic dilemma. Testicular torsion, in particular, is of major concern because it is a surgical emergency.
Phobic disorders are the most common type of psychiatric illness in the community. Social phobia, specific phobias and agoraphobia are the main types of phobic disorders. The diagnosis of phobic disorders is based on the presence of persistent and exaggerated fear of a certain stimulus that is associated with avoidance behavior of that situation or object and significant impairment in social and occupational functioning. The treatment of phobic disorders includes pharmacotherapy combined with cognitive behavioral therapy.
Mullerian duct anomalies present with developmental malformations of the vagina, cervix, uterus or fallopian tubes. These malformations can involve a single organ or can be a combination. The exact etiology is unknown. The estimated incidence of mullerian duct anomalies range between 2 to 10% based on the studied population. The most common presentation of mullerian duct anomalies is primary amenorrhea. Infertility and cyclic abdominal pain can also be presenting features in patients with these anomalies.
Calcium is an essential mineral. With a pivotal role in bone growth and neuromuscular development, it is of crucial importance in the pediatric population. This article envisages highlighting the significance of calcium homeostasis in children and gives an overview of the pathological states associated with abnormal calcium levels such as hypocalcemia and hypercalcemia.
Intestinal malrotation or intestinal nonrotation can be defined as changes marked in the rotation and fixation of the intestines during the developmental phase of a fetus. Intestinal malrotation in the pediatric age group can be classified into congenital and acquired. Congenital malrotation presents in the neonatal life and results from the embryonic arrest of the normal gut rotation. Acquired causes of malrotation in children usually present during infancy in the first year of life. Malrotation in neonates is sometimes associated with other congenital anomalies e.g. congenital heart diseases, congenital diaphragmatic hernia, intestinal and biliary atresia, esophageal atresia, gastroschisis, omphalocele and anal atresia.
Postmenopausal bleeding is a uterine bleeding that occurs one year or more after menopause. The inclusion of one year in the definition is very important as menopause and the final menstrual period are both diagnosed retrospectively after one year of amenorrhea. Postmenopausal bleeding is a common problem, and is often caused by endometrial disease. The etiologies of postmenopausal bleeding can be classified into benign and malignant conditions.
Pervasive developmental disorders include autistic disorder, Asperger’s disorder and pervasive developmental disorders not otherwise specified. These disorders are all characterized by chronic and severe impairment across different domains of development that occurs in early childhood. Diagnosis is made with hesitation but rather important for further treatment and the development of the child's behavior.
The perimenopause is a transition period that all women must go through and it marks the final years of the woman’s reproductive years. There are several definitions related to this period that we need to establish before we discuss the pathophysiology behind the different symptoms of perimenopause and the treatment options. The perimenopausal period starts from the first onset of menstrual irregularity and ends after 1 year of amenorrhea. This one year of amenorrhea is preceded by what is known as the final menstrual period; therefore, the final menstrual period is defined retrospectively after the woman develops amenorrhea for one year.
Colorectal cancer is a common malignancy in women which arises from precancerous lesions that undergo a prolonged transition before they evolve into overt carcinoma. The transition from normal mucosa to a precursor lesion to overt cancer occurs over a period of 10–20 years. This understanding of the pathogenesis of colorectal cancer is important as it implies colorectal cancer can be detected and possibly prevented in an early stage, when it is curable. One method of preventing colorectal cancer in women is hormone replacement therapy.
Osteoporosis is common in postmenopausal women due to the lack of endogenous estrogen. The condition is characterized by the loss of bone mass density. The most serious complication of osteoporosis in postmenopausal women is hip fracture. Screening with dual-energy X-ray absorptiometry (DEXA) is essential for the early recognition of osteoporosis in women, and for the prediction of the risk of hip fractures.
An individual suffering from psychosis loses the contact with reality. A psychotic individual may experience delusions, hallucinations and illusions. Delusions are unshakable false beliefs held by an individual despite being presented with rational and logical arguments and evidence to support the contrary. Hallucinations are deceptions in perceptions that occur in the absence of an external stimulus. Illusions are deceptions in perceptions that occur in the presence of an external stimulus, these perceptions are distorted by the individual's ideas. In this article, we will study in detail about the various types of delusions, hallucinations and illusions.
Hematuria is a common clinical presentation of different conditions in children. Etiology of microscopic and gross hematuria is different. Detailed history, physical examination and focused investigations help identify the cause of hematuria. Management and prognosis are determined by the etiology of hematuria. In this article, etiology, pathophysiology, clinical features, diagnosis, differential diagnosis, and management of pediatric hematuria are described.
Glomerulonephritis (GN) represents a range of disorders of the glomeruli that are immune-mediated. A common histopathological finding is the presence of immune complexes trapped and deposited in the glomeruli. GN usually presents with hypertension, hematuria, proteinuria, and/or renal function deterioration, and complications thereof.
Swyer syndrome is characterized by complete gonadal dysgenesis in a phenotypically female who has a 46, XY karyotype. The presentation of Swyer syndrome is that of a tall female, with primary amenorrhea. The follicle-stimulating hormone levels are elevated and there is usually poor secondary sexual characteristics’ development. Karyotyping is indicated. Once the diagnosis is made, treatment consists of bilateral gonadectomy, hormone replacement therapy and psychotherapy. The only option for fertility is the use of donor ova.
Fractures are a common acute presentation to the emergency departments worldwide. Fractures can be associated with severe long-term morbidity, increased mortality, a huge burden on the healthcare system, and may be intentional or accidental. Abuse, conflicts between people, falls, and motor vehicle accidents are the most common causes of fractures. The number of fractured bones tends to be higher in motor vehicle accidents and falls compared to fractures caused by the other causes.
Fluoroscopy is an imaging technique that employs X-rays to visualize real-time images or videos of the body. The examined organ is made radio-opaque by using some form of dye. In the past, fluoroscopy studies were performed in patients suspected to have structural esophageal or upper gastrointestinal lesions and such structural abnormalities were visualized after a barium swallow. Nowadays, fluoroscopy is reserved for the diagnostic workup of esophageal motility disorders including achalasia and esophageal sphincter diseases such as gastroesophageal reflux disease.
Computed tomography scans deploy x-rays to obtain a cross-sectional image of the body. Current CT scanners have very advanced imaging capabilities such as the introduction of multidetector CT, which provides excellent heart images compared to conventional CT scanners. A 16-cm-wide 320-row multidetector CT scanner makes it possible for physicians to take a full image of the heart every single beat! The clinical usability of such a temporal resolution is questionable, but we believe it can make whole body CT scans very convenient in the primary survey of trauma patients.
It is common to detect proteinuria during routine urinalysis in children. Although transient proteinuria and orthostatic proteinuria are common and benign conditions, it is important to differentiate them from clinically significant proteinuria associated with renal pathology or systemic diseases. Such differentiation can be made by considering the clinical presentation and appropriate use of laboratory tests.
Miscellaneous antiarrhythmic drugs are those whose mechanism of action cannot be attributed to a single class of effect, and every drug inside the group acts by a different class of actions. This group of drugs isn't always the first line of treatment for many conditions, and their use is limited to few specific conditions.
Schizophrenia is a complex, chronic mental health disorder that is characterized by several different symptoms which include delusions, hallucinations, disorganized speech or behavior, and impaired cognitive ability. Schizophrenia has an early onset and a chronic course, making it a disabling disorder for the patient and his or her family. In the following article, you will learn about the pathophysiology, etiology, and treatment of Schizophrenia.
Patients with chronic medical conditions, those with psychiatric disorders such as a major depressive disorder, and veterans and those with psychotic disorders are at an increased risk of suicidal ideation, attempt, or death. The assessment of suicide risk in the patient is very important as it can help in preventing a serious suicide attempt that might cause death; therefore, the main purpose of suicidal risk assessment tools is to direct and guide specific suicide prevention interventions.
Hemolytic–uremic syndrome (HUS) consists of a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal insufficiency (failure), with severity ranging from subclinical to life threatening. HUS, based on an etiological agent, can be classified into classic/primary or STEC-HUS and atypical HUS or secondary HUS. HUS is a common cause of acute renal failure in the pediatric population. In this article, etiology, pathophysiology, clinical features, diagnosis, differential diagnosis, and management of pediatric hemolytic–uremic syndrome are described.
The main presentation of the different types of arthritis is pain. Pain characteristics, timing, and aggravating or relieving factors can help in the differentiation between degenerative and inflammatory joint disease; however, in this discussion, we will focus on the radiographic differences between the two and the outstanding features of specific types of arthritis.
Breast cancer screening is essential in lowering breast-cancer related mortality and the prevalence of invasive and advanced breast cancer in high risk women. High risk women should receive a screening that is based on at least three imaging modalities, i.e., mammography, magnetic resonance imaging and ultrasonography, for the primary prevention of breast cancer. The use of these three modalities allows for the early detection of breast cancer or precancerous lesions.
Tyrosine is one of the amino acids that play a big role in a number of physiological processes. They are precursors for some hormones and neurotransmitters needed by the body for metabolic functions. In this article, the chemistry of tyrosine will be discussed. The article will answer how it is metabolized to produce the different hormones and neurotransmitters.
Bones constitute the supportive skeleton of the body. They are composed of an organic component of type-1 collagen with calcium, phosphate and hydroxyl ions deposited in hydroxyapatite. Bones are covered with a thin layer of periosteum which provides blood supply to help the healing of bone fractures. Bone fractures are the result of damage to the integrity of normal bones due to direct force or pathological processes.
A mental status examination is a vital tool to the psychiatrist and neurologist in the evaluation of the mental status of the patient. A mental status examination is concerned with the patient’s appearance, attitude, mood, affect, speech, thought process, thought content, insight, judgement, impulsivity, and reliability. It is an objective way of examining how the patient’s mind works and can help in establishing a diagnosis when combined with a proper psychiatric history.
In psychiatry, one needs to be systematic with the approach to the patient so that no less obvious information that might be crucial to the diagnosis is missed. History taking is one of the main tools used by the psychiatrist during their interview with the patient suspected to have a mental disorder.
The Mullerian ducts are the human anlage of the female reproductive tract. They differentiate to form fallopian tubes, uterus, uterine cervix and the superior aspect of the vagina. Congenital uterine anomalies, also known as Mullerian duct malformations, are quite common in women. Approximately 0.001 to 10% of women are diagnosed with a congenital uterine anomaly depending on the studied population and the method used. Most identified anomalies of the female reproductive tract are found within the uterus. Isolated cervical, vaginal or fallopian tube defects are much rarer compared to uterine anomalies.
Abdominal CT scan is an excellent way to visualize the contents of abdomen. Use of specific X-ray machine for capture images of inside of abdomen is the feature of abdominal CT scan. It provides detailed images of abdominal organs such as liver, pancreas, spleen, kidneys, gastrointestinal tract, colon and rectum. These images reveal more detail information than typical X-rays. Cross sectional images of abdominal contents can be obtained through CT scan. With the introduction of contrast during abdominal CT scan, many relevant structures of abdomen can be highlighted and observed for definite diagnosis of abdominal pathology.
Ultrasound is a term that means all acoustic energy that has a frequency above the human hearing; therefore, ultrasound frequencies are above 20 kilohertz. The typical frequency range for medical ultrasounds range from 2 to 18 megahertz.
Ovarian tumors are the leading cause of cancer-related deaths in gynecological malignancies. Additionally, they are the fourth leading cause of death related to cancer. Ovarian tumors can be epithelial, germ cell, sex cord stromal or metastatic. Germ cell tumors are the most common type of ovarian tumors in children. Young adults with ovarian tumors can have an epithelial, germ cell or a stromal tumor with equal probability. Middle-aged women and the elderly who develop ovarian tumors usually have an epithelial ovarian cancer.
Blood transfusion is a common and safe procedure where blood and/or blood products are transferred from the circulation of one person (known as a donor) to the circulation of another person (known as a recipient) or to the circulation of the patient himself (autologous transfusion) at a different time. It helps to replace blood loss following trauma, surgery, or hematologic illnesses, e.g., leukemia.
Hirsutism is defined as excessive growth of terminal hair in females in an androgenic manner, whereas virilization refers to elevated androgen levels leading to male physical characteristics in addition to hirsutism. In this article, etiology, clinical features, diagnosis, differential diagnosis, and treatment of hirsutism are described.
Rhabdomyolysis is a serious condition due to muscles injury with subsequent releasing of their contents into the blood. It can leads to serious complications, such as electrolyte imbalance, acute renal failure, or disseminated intravascular coagulation. Direct injury and compression is the main cause of rhabdomyolysis, while others comprise of excessive muscle use, statins and hereditary cause. Elevation of creatinine kinase with myoglobinuria confirm the diagnosis. Management depends largely on the underlying etiology.
Cellular senescence is the cessation of theprocess of division of the cells. Aging is an insidious definite decline in a cell’s functionality, vigor, and vitality. Recent advances in biomedical research, cytogenetic and molecular studies have brought forth fascinating theories to expatriate aging and, more importantly, to tame aging to modulation by genetic and pharmacological manipulations. This article focuses on the effect of cellular senescence and stem cell exhaustion on aging and the subsequent clinical implications.
Hereditary Spherocytosis (Minkowski–Chauffard syndrome) is one of the most common chronic hemolytic anemias worldwide, non-race dependent, yet most frequently encountered in the Caucasian population. The hallmark of this disorder is the changed shape of the red blood cells called spherocytes. Because of its morphological defect, red blood cells' life is shorter than usual resulting in RBCs hemolysis. Clinical presentation of hereditary spherocytosis is diverse, ranging from subclinical cases with mild symptoms, but can also present with severe symptoms.
The spleen is the largest ductless gland and largest single lymphatic organ in the human body. The main functions of the spleen are immunologic surveillance, red blood cell breakdown and splenic contraction for blood volume augmentation during hemorrhagic shock. The most common splenic abnormalities are congenital anomalies of the spleen, traumatic injuries, inflammation, vascular disease related changes, hematologic disease-related changes, benign splenic lesions and malignant splenic lesions.
Abdominal calcifications are generated by a wide range of normal and pathological factors. The prominent symptom of abdominal calcification is the pain experienced by the patient. Abdominal calcifications are categorized into four groups according to their morphology, i.e. concretions, conduit calcification, cystic calcification, and solid mass calcification. The anatomical location of the calcification aids in establishment of a reasonable differential and definite diagnosis. This categorization and location of calcification should be accompanied by radiology to facilitate effective management.
Traumatic injuries to the spine or the spinal cord might cause severe neurological deficits or even death. The mechanisms of injury that can cause spinal or spinal cord trauma usually cause injuries to multiple other organ systems and are associated with polytrauma. The most commonly injured part of the spine is the cervical spine. Half of the cases involve fractures within the cervical spine; the remainder of the cases are distributed between thoracic, lumbar and sacral spinal injuries.
The most common cause of death in the pediatric population is unintentional injury. Approximately 20,000 children each year become disabled because of trauma, and 15 million children per year visit the emergency department because of unintentional injuries. The incidence of musculoskeletal injuries in children is around 1068 cases per 10,000.
The diagnosis and identification of the etiology of lower abdominal or pelvic pain in a pregnant woman can be challenging. Routine blood workup for acute abdomen in pregnant women is challenging due to physiologic alterations induced by normal pregnancy. Additionally, the anatomic location of the different pelvic organs can be altered by the growing uterus. Thus, it has become clear that sophisticated imaging modalities in pregnancy are needed for the diagnosis of acute abdomen, and such imaging modalities should prove to be harmless to the mother and the growing fetus.
The intrahepatic biliary system can be injured in blunt abdominal trauma, in an inflammatory process, such as biliary sclerosing cholangitis, or can be involved in some benign and malignant neoplasms. The radiographic evaluation of the intrahepatic biliary system mainly consists of computed tomography, ultrasonography, and magnetic resonance cholangiography with hepatobiliary contrast and hepatobiliary scintigraphy. The main goal of each imaging modality in each disease process is different. In this article, we will discuss three main biliary pathologies: traumatic biliary leaks, intrahepatic biliary adenoma and intrahepatic cholangiocarcinoma.
Trauma is the fourth leading cause of death and morbidity in the United States. Blunt abdominal trauma is more common than penetrating injuries. The most commonly injured intra-abdominal organ is the spleen, followed by the liver and the genitourinary tract. After careful clinical examination and primary survey, imaging should be used to exclude life-threatening injuries such as rupture of a major blood vessel.
Today, forensic psychiatry is a broader science that entails the study of the interaction of psychiatry and the law. It entails matters of criminal law, civil law and development and application of mental health legislation. In most situations, a third-party requests forensic psychiatry help; say a policeman may divert a mentally ill person to the hospital emergency department for treatment if needed. The main entities of forensic psychiatry include: informed consent, competence and capacity, criminal matters, and malpractice in psychiatry.
Impulse control disorders are characterized by an uncontrollable and irresistible urge to do certain activities that lead to harm to oneself and others. They mainly include compulsive gambling disorder, kleptomania, pyromania, and trichotillomania/hair pulling. The disorders have a low prevalence of 0.5% to 10%. The pathogenesis of the disease involves deranged levels of neurotransmitters, such as dopamine and norepinephrine.
Neuroleptic malignant syndrome is a rare, idiosyncratic, and potentially life-threatening reaction to a neuroleptic (i.e. antipsychotic) drug, although other drugs can also trigger it. Although the exact cause is uncertain, one of the main mechanisms seems to be a sudden deficiency of dopamine in the central nervous system. It is important to promptly identify this condition because of high morbidity and mortality. In this article, epidemiology, etiology, pathophysiology, diagnosis, differential diagnoses, treatment and prognosis of neuroleptic malignant syndrome are described.
Several benign or malignant lesions can affect the adrenal glands. These abnormalities include benign adenomas, other benign tumors, malignant tumors, hemorrhage, metastasis and adrenal gland hyperplasia. The finding of an adrenal gland lesion might be incidental in many cases, i.e., an incidental adrenal adenoma on an abdominal computed tomography scan ordered for an unrelated issue. The diagnosis of a mass as an ‘adrenal incidentaloma’ has become increasingly problematic leading to a shift in terminology by radiologists. Thus, modern day adrenal masses are only classified as benign, malignant or indeterminate depending on various features. Most adrenal lesions are benign adenomas. However, malignancy must be ruled out via various imaging modalities such as CT scan, PET scan and MRI.
Pediatric Nephrotic Syndrome is a renal disorder of children, characterized by nephrotic range proteinuria, hypoalbuminemia, hyperlipidemia and edema. The most common type is primary (idiopathic) associated with minimal change disease, which responds very well to steroid therapy and has a good long-term prognosis. Other causes, clinical presentation, laboratory findings and management are discussed in this article.
Inflicting harm upon children and toddlers, Failure to thrive (FTT) has psychosocial and organic origins and long lasting repercussions on the general wellbeing of the society. This article aims to relate FTT from a medical perspective with prime focus on the clinico-pathological aspects.
Obesity is a global epidemic that does not seem to be slowing down anytime soon. Major influences come from the western diet, but the exact cause is a mixture of genetic and environmental factors. Diagnosis is made with the BMI scale to classify patients into a weight class. Each class is used to help determine what the best management is, whether it is conservative lifestyle changes, medication or in severe cases bariatric surgery.
An impulse control disorder is a psychiatric condition characterized by a person's inability to resist an impulsive action or behavior that can turn out to be harmful to them or others. Usually, people suffering from impulse control disorder experience a feeling of increased anxiety prior to committing the action due to pressure building up. Once the deed is done, they feel relief or even happiness, in spite of the possibly dangerous consequences. This psychiatric condition is mostly misunderstood by the general public, clinicians and even the individuals suffering from it.
Intermittent explosive disorder (IED) is an impulse-control disorder, characterized mostly by abrupt episodes of unnecessary fury or impatience. The disorder is signified by violence, impulsiveness and persistent aggressive outbreaks. These erratic and explosive outbursts can cause significant distress in the person, have a negative impact on their relationships, work and school, and they can also have legal and financial penalties. There are many symptoms and these are mostly based on individual genetics, presence of co-occurring complaints and habit or addiction to drugs or alcohol.
Pleural thickening, diffuse pleural thickening (DPT), is a result of a severe inflammation of the pleural sheets, a thin membrane that covers the lungs, leading to the consolidation of the tissue due to a specific scaring. One of the causes for the condition is empyema that develops when pus builds-up in the space between the lung tissue and pleural space (the inner surface of the chest wall). With the advance of the scaring, the lungs may be encapsulated with the thick tissue, with the further disappearance of the natural space between the pleural cover and the lungs. The after-effect of this condition is a reduction of total lung capacity (TLC), thus, the deterioration of respiratory function and hemodynamic disorders due to growing hypoxemia.
Personality disorders are a cluster of mental diseases that involve semi-permanent patterns of thoughts and behavior which can be harmful and obstinate. These individuals have difficulties in handling everyday stresses and issues and their behavior can lead to serious issues with relationships and work. It has been seen that this disorder normally starts in the teen years or early adulthood. The clinical signs of personality disorder include emotional dysregulation, impulsive aggression, repeated self-injury, and chronic suicidal tendencies. Identifying this diagnosis is the most important thing for treatment planning.
The alteration of the lung volume, in the form of reduction of total lung capacity (TLC), is regarded to restrictive lung diseases; as a rule the diseases of the chest wall and muscles, neuromuscular apparatus stipulate it; also, there are parenchymal ailments that may adjust the respiratory function of the lungs. The former ones lead to the decrease of TLC and refer to extrapulmonary diseases, and vice versa, the latter ones cause elevated TLC, like in COPD and asthma.
People with mood disorders, anxiety disorders, specific phobias, obsessive-compulsive disorder, or thought disorders often need psychotherapy in addition to their medication. Psychotherapy is defined as the systematic interaction between an individual and a therapist that is based on the understanding of the psychological principles and mechanisms of mental disease with aim of changing the individual’s behaviors, thoughts and feelings. Therefore, the optimum goal of psychotherapy is to help the patient to overcome certain abnormal behaviors such as being frightened from a stimulus, solve their daily-life problems and help them achieve their potential.
Formal thought disorder, or disorganized thinking, refers to a disturbance in the coherence of a person’s oral communication. There are many types ranging from low content of speech to excessive tendency to go off topic to coining new words or using existing ones in a highly unusual way. Formal thought disorder is particularly associated with the psychotic spectrum of diseases (typically, schizophrenia), but some types can be seen in some mood disorders as well as non-psychiatric etiologies. It may be accompanied by delusions and/or hallucinations, which are useful in narrowing down a diagnosis. In this article, common types of thought disorders, its epidemiology, etiopathology, diagnosis, and treatment will be discussed.
Androgen Insensitivity Syndrome (AIS) is a condition in which there is partial (PAIS) or complete (CAIS) resistance to testosterone. As a result, individuals with this disorder are genotypical male with XY karyotype, but without masculinization of external genitalia or virilization. This condition is believed to develop due to mutations in the androgen receptor gene.
The female sexual response is non-linear and complex and is intricately associated with feelings of intimacy and satisfaction. Female sexual dysfunction, therefore, can be a result of stresses and interpersonal conflicts, as well as physical illness or medication/substance use. The disorder can be due to lack of (adequate) desire, arousal, or orgasm, or presence of pain. The diagnosis can be tricky as there is frequently an overlap and underlying medical or psychiatric disorders need to be ruled out.
The chest X-ray is a cheap, feasible, screening tool for cardiac and respiratory diseases in neonates, children, and adults. The heart shadow on the chest X-ray “cardiac silhouette” occupies half of the anteroposterior chest X-ray film in normal individuals. Therefore, the examination and evaluation of the cardiac silhouette on the conventional X-ray has received interest from radiologists and pediatricians. The main aim of examining the cardiac silhouette is to determine the heart’s size, the identification of the different contours of the heart, and the categorization of the pulmonary vascularity.
Mycoplasma pneumoniae is a common cause of lower respiratory tract infections in adults and children. Up to 40% of the cases of community-acquired pneumonia are caused by mycoplasma pneumoniae. The diagnosis of mycoplasma pneumoniae pneumonia is based on the clinical manifestations, radiographic findings, and serology testing. Because of the good response to macrolides and the favorable natural history of the infection, advanced polymerase chain reaction testing for the confirmation of the disease is rarely needed.
Children are a unique group in that they are at an increased risk of falling and lacerate themselves. Up to two thirds of bite wounds that present to the emergency department are found in children. Playing with other peers, or even fighting with each other can end up in getting bitten. Whether the mechanism of injury is fall or bites, the local care of the laceration is quite the same.
Juvenile idiopathic arthritis is a chronic inflammatory condition that occurs in children and is characterized by the involvement of a single joint (psoriatic type), 1-4 joints (oligoarticular), 5 or more joints (polyarticular), or systemic-onset disease. The exact etiology is unknown, but genetic predisposition is likely to play a significant role in the pathogenesis. The diagnosis is based on clinical criteria which can be supported by laboratory findings. Treatment is dependent on the exact type of the disease and mainly consists of non-steroidal anti-inflammatory drugs, steroids, methotrexate and tumor necrosis factor alpha inhibitor. Biologic disease-modifying antirheumatic drugs have recently been approved for use in juvenile idiopathic arthritis.
Cognitive disorders are characterized by disruption of, or deficit in learning, memory, perception and problem-solving. There are four major kinds of cognitive disorders: delirium, dementia, amnesia and cognitive disorders due to general medical condition or substance use. In this article, an overview of cognitive disorders and tests performed to assess cognitive function will be discussed.
Prolactinomas are benign hormone-secreting pituitary tumors. They can cause symptoms secondary to prolactin secretion as well as space-occupying lesion effects. The management of prolactinomas in pregnancy differs from the non-pregnant state. In this article, etiology, pathophysiology, epidemiology, symptoms, diagnosis, differential diagnosis, management, and treatment of prolactinomas in males, pregnant and non-pregnant women are described.
Systemic lupus erythematosus is a chronic inflammatory condition that is characterized by the clinical involvement of the skin, joints, kidneys, blood cells, and central nervous system. The main clinical features of the disease include malar rash, joint pain, fever, proteinuria, hypertension, anemia, lymphopenia, and seizures or psychosis. The disease is believed to be an autoimmune disorder and has been associated with the formation of autoantibodies such as antinuclear antibody, anti-Smith, and anti-dsDNA.
Transient Synovitis is an acute inflammatory condition that involves the hip. It is considered as the most common cause of hip pain in children and is usually a self-limited disease that does not need any specific treatment. The main goal of the diagnostic workup for transient synovitis is to exclude septic arthritis (a bacterial or fungal infection that results in joint inflammation and can lead to permanent joint damage if left untreated), another cause of single joint arthritis that can cause severe joint damage.
Granulomatosis with Polyangiitis (GPA) and Goodpasture's syndrome are two similar conditions that are characterized by small vessel disease and are considered autoimmune conditions. Goodpasture's disease, on the other hand, is a different condition from GPA and is characterized by glomerulonephritis with anti-glomerular basement membrane antibodies. Both conditions are rare in children. The prognosis of GPA and Goodpasture's disease has improved dramatically in the last few decades; however, mortality remains high. GPA and Goodpasture’s disease present with fever, hemoptysis, shortness of breath, and symptom and signs suggestive of kidney disease.
Intestinal malrotation is a congenital abnormality that is characterized by the abnormal position of the bowel within the peritoneal cavity due to incomplete rotation and abnormal fixation of the intestine to the abdominal wall. Almost all cases of intestinal malrotation are diagnosed within the first year of life. The main presentation of intestinal malrotation is bilious vomiting and abdominal distension. Midgut volvulus is a life-threatening complication of intestinal malrotation that should be diagnosed early and treated properly to avoid sepsis and mortality.
Pulmonary edema is a consequence of a disease process rather than a primary pathology. Pulmonary edema can be classified into cardiogenic and noncardiogenic based on the cause of the edema. In non-cardiogenic pulmonary edema, the main pathology is a direct or indirect insult to the pulmonary capillary membrane which results in an increased permeability of the endothelial cell layer.
Mediastinal masses can be benign cysts, neurogenic tumors, germ cell neoplasms, thymomas or lymphomas. The mediastinum is demarcated by the pleural cavities laterally. Superior to the mediastinum, you find the thoracic inlet. The mediastinum is usually divided into three main compartments: anterior, middle and posterior. This anatomical classification of the mediastinum is useful for the radiologist as the differential diagnoses of a mediastinal mass is dependent on the anatomical location of the mass—among other factors.
Headache is common in both adults and children. Children of all age group report having some sort of acute and chronic attacks of headache. In children, it can be classified into primary or secondary to another cause. Primary headaches are similar to the adult group including migraine which is the most common, cluster headache and tension-type headache. Secondary headaches are caused by another lesion; infection, CNS tumors, hydrocephalus, cerebrovascular lesions, and trauma. The most common secondary headache is due to acute viral illness or respiratory infection.
Sometimes, in surgical wards and at the emergency department, the radiologist might see a chest x-ray with a complete white-out of a hemithorax. The number of causes that can cause a complete white-out of a hemithorax on a chest plain radiography is limited. To better understand such causes, we chose to classify them according to the position of the trachea.
Child sexual abuse is a broad term that includes many acts that can be sexually abusive toward children. The most common acts covered in the loosest definition of child sexual abuse are sexual assault, rape, incest and sexual exploitation of children for commercial and financial reasons. Child sexual abuse can be considered as completed or non-completed (attempted).
Menopause is the process of ageing with a gradual decrease in ovarian function over several years. On average, menopause occurs around the age of 50 in a majority of women, although it can occur as early as in the early to mid-forties. It is characterized as a fluctuation of hormone levels and decline of estrogen and progesterone levels. This can cause detrimental effects on cardiovascular, as well as skeletal functioning due to a decline in the beneficial effects of estrogen.
Atelectasis is a condition that is characterized by the collapse of the alveoli and eventually lobar lung collapse and complete obstruction. The causes, pathophysiology, and consequences of atelectasis where the air passages and alveoli are completely obstructed are different from partial airway obstruction. Partial airway obstruction is characterized by hyperinflation and air trapping.
Hemoglobin is the iron-containing metalloprotein that is responsible for oxygen transport in vertebrates. It is present in the blood and functions mainly to carry oxygen from the lungs to the other parts of the body, and carbon dioxide from the body to the lungs for eventual elimination. This article will focus on the basic structure and function of hemoglobin.
Many of the symptoms and signs of menopause can be attributed to the cessation of the production of estrogen by the ovaries in the menopausal stage. The most common complications that women face during menopause include vaginal dryness, soreness, dyspareunia, urinary frequency and urgency. Mood changes are also common during menopause and in postmenopausal women. Vasomotor instability can cause hot flushes, sweating and palpitations in menopausal women.
In the past, BRUE was known as an apparent life-threatening event. Per this definition, one can conclude that BRUE is a clinical manifestation rather than a true diagnosis and a variety of conditions might lead to BRUE. Causes for BRUE can be identified and, thus, be treated accordingly. SIDS, on the other hand, is defined as the sudden death of an infant without an apparent cause per history and where a complete physical examination does not reveal a clear cause for the death.
Treacher Collins syndrome is characterized by the congenital hypoplasia of the zygomatic and mandible bones. It is a syndrome with a concise clinical presentation and mostly surgical treatment. Pierre Robin disorder, on the other hand, is a sequence and not a syndrome, i.e., in Pierre Robin sequence, micrognathia leads to glossoptosis. Glossoptosis, on the other hand, is responsible for the airway obstruction seen in infants with Pierre Robin sequence.
This article should provide an overview of the main type of diseases that affect the lung. You will find a description of the important diagnostic tests used for investigating respiratory diseases, like general principles, emphasis on lung function testing role and interpretation and examples of diagnostic testing approach for some common presentations.
The incidence of pancreatitis in the pediatric population has been on the rise recently. It has a grave impact on the quality of life when present from a young age. This article expounds the basics of pediatric pancreatitis, while focusing on the clinicopathological aspects of pancreatitis.
Fibrocystic breast changes are considered changes that mimic but do not achieve the threshold to be considered malignant conditions of the breast. They are changes that may be seen even in normal breast tissue. They are common in women of childbearing age 30-50 years old who have had hormonal influence by estrogen, progesterone, and prolactin for years. These changes stop after menopause and thus the occurrence of such changes is rare after menopause. The changes are classified into either non-proliferative change such as cystic lesions or proliferative changes without atypia such as epithelial hyperplasia
This article deals with the normal sexual development in humans. It defines the various terms used to describe gender and sex, from genetic to phenotypic sex. The genetics behind sex determination is shortly dealt with, as well as the development of the internal and external genitalia in embryonic and fetal life. The differentiation of the mesonephric and paramesonephric ducts is briefly described, and we end with a short summary of sex determination in the male and the female.
Disruptive behaviour disorders are impaired patterns of behaviour, occurring in children and adolescents. The two types are conduct disorder and oppositional defiant disorder. In this article, epidemiology, etiology, sign and symptoms, diagnosis, and treatment of disruptive behaviour disorders will be discussed.
Hyperprolactinemia is defined as a condition of high prolactin levels in the blood. Many factors are attributed to the development of hyperprolactinemia. Bromocriptine or cabergoline are the first line of drugs for the treatment. Refractory cases require a surgery or radiation therapy in case hyperprolactinemia is caused by macroprolactinoma. This article discusses possible causes, diagnosis, treatment and management of hyperprolactinemia.
When there is a conflict between a person’s subjective moral sense and the person’s thought, feeling, or action, the ego uses defense mechanisms to keep them away from conscious awareness. These subconscious defense mechanisms serve to protect the self from unpleasant feelings, which often including anxiety, shame, and/or guilt. Although these are normal occurrences, used in excess, they can hinder insight or treatment compliance.
Chronic pelvic pain (CPP) is a frequently occurring disorder in women and its etiology cannot always be determined. The pain could be in the urogenital tract, gastrointestinal tract, musculoskeletal or psychoneurological in origin. The common gynecologic causes of CPP are endometriosis, adhesions and interstitial cystitis. Diagnosis is based on a detailed history, thorough physical examination, laboratory and imaging studies and laparoscopy. Treatment could be symptomatic as well as specific treatment of the gynecologic disorder.
Autoimmune hepatitis is a progressive necroinflammatory process leading to chronic hepatitis or cirrhosis. It is characterized by the presence of circulating autoantibodies and high serum globulin concentrations. The pathogenesis of autoimmune hepatitis is unclear; however, a proposed mechanism suggests overactive T cells in genetically susceptible patients. Autoimmune hepatitis is characterized histologically by certain non-specific findings, making the measurement of autoantibodies and gamma globulins essential for diagnosis. It is also essential to differentiate autoimmune hepatitis from other forms of hepatitis.
Physicians, especially family physicians, are often the first contacts for survivors of intimate partner violence and occasionally for sexual assault victims too. Both these problems are prevalent worldwide with both sexes being affected, although women are more affected than men. Besides physical harm and death, intimate partner violence (IPV) and sexual assault can also cause psychological and psychiatric problems. Family physicians should be prepared to identify and provide supportive care to these patients.
The pituitary gland/hypophysis is in the Sella turcica/pituitary fossa which is a part of the sphenoid bone and forms the cranial fossa. The gland is divided into the posterior and the anterior pituitary. The most common cause of these disorders is pituitary tumors which are mostly benign (Adenomas) in nature. Diagnosis in most cases is made with MRI, CT imaging and laboratory work-ups. Treatment approaches for pituitary gland disorders involve various methods including medication and surgery. Prognosis depends on the diagnosis.
Hematopoiesis is the process of blood cell formation. It begins in embryogenesis and progresses to adulthood to replenish the cellular component of blood. The sites of hematopoiesis include the yolk sac at the embryological age of 0 - 2 months and
the liver and spleen during the embryological age of 2 - 7 months.
The bone marrow and thymus are definitive sites of hematopoiesis that take over the function from 8 months to adulthood.
Extramedullary hematopoiesis in the spleen and liver can either the bone marrow is destroyed and cannot fulfill the function anymore.
Health care maintenance is aimed to examine the healthy individuals for any asymptomatic disease. It provides an opportunity for prevention in high-risk patients and an early diagnosis with a possibility to prevent advancement of the disease. During a health care maintenance examination (HME), physicians record the medical, social, and family history of the patient along with a comprehensive systemic review to find out relevant risk factors and the necessary screening tests. Preventive societies give guidelines for the screening tests in healthy individuals for health maintenance. Counseling on better nutrition, immunizations, and screening tests are a part of routine HME.
Rotator cuff injuries can occur in older and younger adults. These injuries can range from tendinitis to complete tears of one of the rotator cuff tendons and muscles. Rotator cuff injuries can occur due to repetitive overhead activities, direct trauma to the shoulder, or senile degeneration of the tendons of the rotator cuff. Magnetic resonance imaging is the most accurate imaging modality for the visualization of the rotator cuff muscles. The goal of the management plan is to make the patient independent, and completely pain-free with a full range of motion, and surgical treatment as the last option.
Paraneoplastic syndromes are rare disorders caused by a change in immune system response to a neoplasm. It is a disorder that produce a nonmetastic impact on systemic organs due to production of substances by the remote tumor cells in the body.
Carcinogenesis, also known as tumorigenesis which stands for the process of transforming a normal cell into a cancerous cell. Strictly defined carcinogenesis represents the initiation of a tumor-forming process, while oncogenesis represents maintenance of the tumorous state in cells that have already changed into a cancerous state. The process is largely dependent on the imbalance between proliferation and programmed cell death (apoptosis) in the cell division pattern.
Attention Deficit Hyperactivity Disorder (ADHD) is a developmental condition of inattentiveness and easy distractibility with accompanying episodes of hyperactivity. The disease is common in children but also occurs in adults, with a prevalence of 4.4% in the United States and 3.4% worldwide. The disease is supposed to arise due to neurotransmitter deficiencies or brain structural changes resulting from genetic mutations or hypoxic-ischemic brain injury in the perinatal period.
Hyperemesis gravidarum is defined as severe, persistent nausea and vomiting during pregnancy leading to dehydration, electrolyte imbalance, ketosis, loss of more than 5% pre-pregnancy weight and can even result in mortality.
These are kidney diseases that involve structures outside the glomerulus. The causative agents incite a hypersensitivity reaction that leads to an inflammatory infiltrate seeding into the kidneys interstitium and irreversible features of fibrosis and sclerosis. This leads to the diseases presenting as an acute kidney injury that may end up as an end stage renal disease. Management is per the acute renal injury algorithms that advocate for identification of the inciting agent and its discontinuation alongside watching out for end stage renal disease and timely institution of renal replacement therapy.
The selection of contraceptives is a personal choice, but the physician should provide information to the patient regarding the optimal contraception. The postpartum period is an ideal time to initiate contraception as women are continuing to follow up with their healthcare providers and are likely to be more motivated to avoid the next pregnancy soon. Postpartum contraception should consider factors like a resumption of ovulation, its effects on lactation, and the woman’s health. Ideally, all women requesting postpartum contraception should be advised not to wait until the resumption of their menstrual cycle but instead start their contraceptive use before resuming sexual activity. Physicians should also provide emergency contraception, if requested, to all women.
An incongruous alteration in the flow of blood in the form of steal syndromes is a well-known complication of coronary artery bypass grafting (CABG). It might be discovered incidentally, that is during an ultrasonographic or angiographic examination performed for any other indications, or during the clinical examination, finding of reduced blood pressure or unilateral upper-limb pulse. Treatment mostly comprises of open subclavian artery revascularization, normally via carotid-subclavian bypass or subclavian artery transposition, and new less invasive options which are endovascular intervention with recanalization, angioplasty with stenting if needed.
The urinary system consists of the kidneys, ureters, urinary bladder, prostate, and testes; however, the collective term urologic cancers usually refer to the carcinoma of the urinary bladder and the prostate. The urinary bladder is a hollow organ that is used to store urine before its excretion. When urine is produced from the kidneys, it is supposed to go down the ureters and to reach the urinary bladder via the two ureter orifices. The urinary bladder is composed of an inner layer that is lined with urothelial and mucosal cells, a lamina propria layer that is mainly connective tissue, and a third layer that contains smooth muscle.
Pleural effusions are a common encounter at the emergency department, outpatient and inpatient wards in hospitals. Up to one-half of the hospitalized patients with bacterial pneumonia are expected to develop or have pleural effusion during their admission. Moreover, up to two-thirds of intensive care unit patients are found to have a pleural effusion for one reason or another.
Proximal tubule is divided into proximal convoluted tubule (PCT) and proximal straight tubule (PST). The proximal convoluted tubule is the convoluted portion of the nephron that extends between the Bowman’s capsule and the loop of Henle. Its main function is to reabsorb salt and water, organic solutes like sugar and amino acids, potassium, urea, and phosphate. It also secretes ammonium in the urine.
In this article, you will learn more about thermodynamics and thermochemistry in order to be best prepared for your exam. You will increase your knowledge about Hess´s Law, Gibb´s Free Energy and the coefficient of thermal expansion.
Non-genital warts in children are very common and can be troublesome to the child when they are large and disfiguring. Warts are usually painless unless they are located in deep skin layers and in areas of weight-bearing, such as the soles of the feet. The causative viral agent of non-genital warts is known as the human papillomavirus. The diagnosis is based on the clinical examination of the non-genital wart and management can be classified into a wait-and-see approach, destructive approach, or immunomodulation.
CNS tumors in pediatrics are rare but account for approximately 20 % of cancers in children. Most patients with CNS tumors have supratentorial brain tumors. Patients usually present with headaches, focal neurological deficits with or without seizures. Brain imaging is essential in the diagnosticworkup and a histological examination should be performed on an excisional or incisional biopsy. The histological classification of the tumor has an impact on the decision to offer adjunctive chemotherapy or radiotherapy after surgical resection.
T-Cell Deficiency causes cell-mediated immunodeficiency. Examples of T cell disorders include Severe Combined Immunodeficiency (SCID), Ataxia-Telangiectasia, Wiskott–Aldrich syndrome (WAS), and DiGeorge Syndrome. SCID causes the disturbing development of functional B and T cells due to a number of genetic mutations. Ataxia telangiectasia is a combined deficiency of T cells, immunoglobulins, and neurocutaneous findings. WAS is caused by WAS gene mutation resulting in a lack of functional Wiskott-Aldrich syndrome protein. DiGeorge Syndrome results from microdeletion in a small segment of chromosome 22.
Lipid is one of the biomolecules important to humans. They serve a number of purposes in human metabolism. In the absence of carbohydrates, acetyl CoA does not enter the TCA cycle, instead, are processed to form ketone bodies, cholesterol, steroid hormones, and bile acids. This article focuses on the metabolism of these four compounds.
Patients living in remote areas or those with limited access to the hospital care system typically present first to the primary health care physician if they sustain a traumatic injury to the eye. Therefore, it is essential for the general practitioner to have a general idea about the several types of acute ocular emergencies and to be able to manage them properly at the primary care level. The primary health care physician needs to make two important decisions in case of an ocular emergency: should the patient be referred to the emergency department at the hospital? And, if yes, how and when should the referral be made?
Ankle pain is identified in up to 20% of the cases of musculoskeletal complaints in the outpatient clinics. The most common etiologies of foot and ankle pain can be categorized into arthritis, trauma, sprains and systemic causes. Shoe problems are responsible for a significant proportion of foot pain presentations to the clinic.
Patients with hand or wrist pain commonly present to the primary care physician before seeing a specialist. The wrist consists of a complicated set of bones, soft tissues, and joints which can make the appreciation of the cause of pain a bit challenging. The key principle to reach an accurate diagnosis of the etiology of hand or wrist pain is following a systematic approach that is evidence-based; therefore, the main intention of this article is to provide the reader with an evidence-based approach to the patient presenting with hand or wrist pain.
The human immunodeficiency virus (HIV) is a retrovirus that can be transmitted vertically, sexually or via blood products. Intravenous drug use has been also associated with HIV infection. The main mode of transmission of HIV in children is vertical transmission during pregnancy, delivery or after birth. The estimated risk of perinatal transmission of HIV from the mother to the baby is around 40% if the mother does not receive any treatment. Perinatal transmission is responsible for 80% of pediatric HIV cases. Sexual abuse of children and adolescents is also a risk factor for HIV infection.
While oxygen supplementation therapy was found to play a role in the management of chronic obstructive pulmonary disease (COPD), symptomatic treatment remains essential. Management options for COPD symptoms can be classified into three main categories: “rescue management for acute episodes of dyspnea”, “maintenance therapy”, and “treatment of acute COPD exacerbations”. Maintenance therapy is crucial in lowering the rate of acute COPD exacerbations in the future.
Patellofemoral pain syndrome (PFPS) is a common condition that is characterized by anterior knee pain. The condition is more commonly seen in young women. Patellofemoral pain syndrome is characterized by the absence of any significant structural changes and with a normal articular cartilage. PFPS is a diagnosis of exclusion.
Chest pain is a common and challenging presentation to the outpatient family medicine clinic. When a patient with chest pain is encountered, the main goal of your evaluation is to exclude life-threatening causes. Once life-threatening causes of chest pain are dismissed, the categorization of the patient into cardiac and non-cardiac chest pain is helpful.
Breast cancer is the most common cancer in women affecting 1 in 8 women in the united states. Up to 40% of female cancer survivors belong to this group. The early detection of breast cancer, along with pathology-specific treatments resulted in a 5-year survival rate that is above 90%; therefore, it became clear for the American Society of Clinical Oncology (ASCO) that a guideline mainly focusing on the care of breast cancer survivors is needed.
Premenstrual syndrome is a vague term that is used to describe a wide range of symptoms severity that are confined to the luteal phase of the menstrual cycle and that recur in multiple ovulatory cycles. These symptoms should cause significant impairment in the quality of life.
Knee pain is a common encounter in the general practitioner’s office. Up to one third of musculoskeletal problems seen in primary care are related to knee pain which can be acute or chronic. Knee pain is more common in active people such as athletes. Half of athletes complain of acute knee pain per year. Trauma, osteoarthritis, rheumatoid arthritis, and gout are the most common causes of acute knee pain.
Antidepressants are commonly used by women in child-bearing age. When antidepressants are used, they can influence the fetus in one of four ways. Antidepressants might be associated with an increased risk of miscarriage, teratogenesis, neonatal toxicity, or long-term neurobehavioral sequelae. As we shall explain later, most commonly used antidepressants were not found to be associated with an increased risk of miscarriage. Omphaloceles, gastroschisis, anencephaly, and craniosynostosis might be slightly more common in the offspring of women taking antidepressants.
Coronary artery disease is considered the leading cause of death worldwide. It occurs as a result of atherosclerotic changes of the coronary arteries with subsequent narrowing of the vessels preventing their dilation. The atherosclerotic plaque is a sticky yellowish deposit formed witih the arterial intima. As a result, mismatch between myocardial oxygen supply and demand occurs. In many cases, it remains asymptomatic. Acute retrosternal anginal chest pain is the cardinal symptom. Management involves primary and secondary measures, medical treatment or even revascularization.
The arteries of the upper limb such as brachial and radial arteries are often palpable clinically and used in measuring blood pressure, pulse rate and drawing blood samples for arterial blood gases analysis (ABG).
Cryptococcosis is a fungal infection caused by Cryptococcus neoformans and Cryptococcus gandii. The encapsulated organisms are inhaled and survive in the respiratory tract without causing any harm. However, depending upon the immunity of the individual, it may result in several clinical diseases. Cryptococcosis is therefore known as an opportunistic infection. Patients with immune deficiency such as HIV, corticosteroid therapy or reticulo-endothelial malignancy may suffer from the additional debilitating effects of the disease.
Patent ductus arteriosus is a common congenital heart disease that can bepresent isolated but is usually present with other co-existing congenital heart anomalies. Patients usually have a previous history of hypoxia, or premature baby or have a maternal history of rubella infection. Echocardiography is the diagnostic modality of choice for the confirmation of the diagnosis. The administration of indomethacin can stimulate the closure of the patent ductus arteriosus. Surgical treatment should be reserved for highly symptomatic patients with a large patent ductus arteriosus.
Lipids are a large and diverse group of naturally occurring organic compounds that have relatively very low solubility in water and higher solubility in non-polar organic solvents. Different types of lipid molecules include fatty acids, fats, oils, waxes, phospholipids, eicosanoids, steroids etc. The focus of this article is on two types of lipids, namely glycerophospholipids and sphingolipids. Specifically, the article emphasizes on the synthesis of these two types of lipids.
Contraception refers to the process/methods that allow one to have children by choice other than by chance. These methods can be based on certain behaviors, physical barriers, chemical compounds, or hormonal therapies.
Cholesterol (Greek for: ‘gall’ and ‘solid’) is a media star: For decades, no other biochemical substrate draws as much attention as cholesterol has. But what are the hard pre-clinical facts? How is cholesterol synthesized and degraded in the human body? How is cholesterol metabolism regulated? The following article presents you with useful information that will aid you in your exam preparation.
Pregnancy is a time of emotional upheaval for every woman. Besides environmental stressors, there are significant hormonal changes during and after pregnancy that put a woman at risk for several psychiatric disorders. Up to 80% of women will have the baby blues after giving birth. 20% of women will have postpartum depression and one in a thousand will have postpartum psychosis. In this course, we will discuss the baby blues, postpartum depression and postpartum psychosis.
Ageing is a genetic but environmentally modulated process that one becomes older. There are various theories hypothesized to elucidate aging, such as loss of telomere length (telomere attrition), increase in p13 expression and mitochondrial dysfunction which arises from errors in replication and mutations. The three pathways culminate into accumulation of reactive oxygen species and onset of age related diseases such as cancer and degenerative diseases.
This article introduces the reader to the topic of neonatology. In the first moments of life, individuals are particularly fragile and it is imperative that medical students have a comfortable grasp on how to assess whether an infant is healthy and what exactly to do if the infant is not healthy. This knowledge will be built around principles you learned in USMLE Step 1, and the basic sciences govern much of what we practice in Neonatology today. In this article, we introduce the epidemiology of births in the United States, remind the user of fetal physiology and prepare you for learning resuscitation techniques etc later on in this neonatology course.
Brain herniation is a potentially fatal condition that may present as a rise in intracranial pressure. The following text describes the various clinical signs to recognize this condition and the possible measures one can take to treat it.
Vitamins are the organic compounds which are required in small quantities for normal growth, reproduction and maintenance of the human body. They are different from other organic food stuff because they do not go through the degradation processes to provide energy, and do not enter the tissue structure. Moreover, several B vitamins act as a coenzyme in various metabolic reactions of the body. Vitamins are also different from hormones as they are not produced by the body and have to be taken through diet. They are classified on the basis of their biological and chemical activity.
With the advancement of age, older adults go through changes that have an impact on their nutrition. Changes can be physical, psychological, health-related or social. Their extent varies among different individuals. Senior citizens can enjoy a quality of life despite these changes, given that they are healthy. Malnutrition is a result of not getting adequate caloric intake and nutrients. Older people are at a greater risk of developing malnutrition. Moreover, if this is combined with disease, it would lead to the spiral of dependence and hospitalization.
One of the most common reasons for the death of almost 300,000 children per year is malnutrition. It is seen more frequently among children who are younger than five years and reside in the developing countries. The number contributes to half of the total deaths in the child age groups across the world.
Protein-energy malnutrition (PEM) is a type of malnutrition commonly seen among children aged six months to 5 years.
Chronic granulomatous disease is caused by impaired phagocyte NADPH oxidase complex activity, or complete absence of the enzyme. X-linked and autosomal recessive patterns of inheritance have been described for the condition. Patients usually present with recurrent skin, lung and gastrointestinal infections. Granulomas can form in the skin, gastrointestinal tract or genitourinary tract. Patients should undergo qualitative and quantitative testing of the oxidase complex enzyme from isolated neutrophils. The mainstay treatment of chronic granulomatous disease is antimicrobial therapy and interferon-gamma. Hematopoietic stem cell transplantation is curative, but carries significant risks.
Medulloblastomas, primitive neuroectodermal tumors and ependymomas constitute a significant number of central nervous system tumors in children. Medulloblastomas and PNETs are more likely to have been metastasized at the time of diagnosis, compared to ependymomas. The clinical presentation of medulloblastomas and ependymomas is usually due to increased intracranial pressure, while PNETs usually present with head and neck masses. Surgical resection of the tumors is the mainstay of treatment which should be followed by radiotherapy in most cases. Chemotherapy in medulloblastoma and PNET has a proven effect on survival, but its role in ependymomas is still unknown.
Amongst the most common hyperpigmentation conditions, melasma affects a large number of women, especially during pregnancy. Read on to find out more about its causes and the various modalities of treatment that exists for its alleviation.
Infective endocarditis is a common serious infectious pathology in children. The most commonly identified organisms are of the streptococcus and staphylococcus species. Patients always have a fever. Other signs of infective endocarditis include Roth spots, splinter hemorrhages and Osler nodes. Blood cultures and echocardiography are very important in the establishment of the diagnosis. The diagnosis of infective endocarditis is based on the presence of major and/or minor criteria from the modified Duke’s criteria for infective endocarditis. Antibiotic therapy is essential and life-saving.
CVID, also known as humoral immunodeficiency, is characterized by reduced serum levels of immunoglobulins G and A and, in some patients, also immunoglobulin M. Patients present with recurrent infections, an increased risk of autoimmune disorders and malignant disease. Quantification of serum levels of immunoglobulins, in addition to assessment of the functional activity of lymphocytes, is indicated in the diagnostic workup of CVID. Specific culture and sensitivity tests should be performed in patients with infectious complications to guide antibiotic therapy. Treatment of CVID includes antimicrobial therapy, immunoglobulin replacement therapy and immunomodulation therapy in patients with autoimmune disease.
Myocarditis is an inflammatory condition of the heart that is usually a consequence of a viral illness. Enteroviruses and adenoviruses are the most commonly identified etiologies for the condition. Inflammatory cellular infiltrates of the myocardium and myocyte necrosis is usually evident in the acute phase of the illness. Diagnostic workup includes polymerase chain reaction testing to identify the viral cause, echocardiography to assess the left ventricular function and advanced imaging techniques that confirm inflammation of the myocardium. Treatment is mainly supportive.
Pediatric lymphomas are rare compared to other malignancies in children. They can be classified into Hodgkin's and non-Hodgkin's lymphomas. Hodgkin's lymphoma is more likely to present with systemic features such as fever, weight loss and night sweats. Non-Hodgkin's lymphoma is more likely to present with primary extranodal involvement. Histologic examination is essential in both conditions to confirm the diagnosis. Staging of the disease is important as it can change the treatment plan.
Hypertrophic cardiomyopathy (HCM) is the preferred term for both, what was earlier classified as obstructive and non-obstructive type of HCM. HCM manifests as otherwise unexplained thickening of the left ventricular (LV) myocardium, left ventricle outflow tract (LVOT) obstruction and mitral valve’s systolic anterior motion (SAM). TTE is recommended as best modality choice to make clinical diagnosis of the disease. Treatment of pediatric HCM patients is based on long-term care and close observation, adequate medical or surgical treatment of symptoms, prompt identification and treatment of those at risk for sudden death, and on-going screening of at-risk family members.
There are many parkinsonian disorders that present similarly, but are not Idiopathic Parkinson's disease. These include Progressive Supranuclear Palsy, Multiple System Atrophy and Corticobasal degeneration. This article outlines the definition, epidemiology, pathophysiology, diagnosis management and prognosis of these conditions.
Conjugated hyperbilirubinemia is a very common condition that affects the infants and young children, which is usually caused by either impairment of biliary excretion of conjugated bilirubin in acquired conditions (such as viral hepatitis) or inherited syndromes of intra-hepatic cholestasis resulting from mutations in specific genes, such as in Dubin-Johnson syndrome.
Monoallelic gene expression refers to the allele-specific expression of genes. Only one allele of the gene is actively transcribed. It can occur in different ways, such as genomic imprinting, random choice of one allele, and X-inactivation. Other allele expressions are balanced and unbalanced expressions. Balanced expressions have both alleles equally expressed, whereas unbalanced ones do not express each allele equally.
Goldilocks principle states that everything should fit in a certain margin; neither too much nor too less. When the amount of gene product changes, it no longer follows the “just right” principle of Goldilocks.
Pediatric respiratory diseases are a common occurrence and will be a major presentation to both clinic and emergency rooms. The most common categories for presentation are acute causes, atopy, and infection. Acute causes include pneumothorax and pulmonary embolism. Atopy includes asthma. Infective causes are due to viral causes in bronchitis and fungal in aspergillosis. Identifying and differentiating each category allows for rapid and accurate management.
Sex chromosomes have a pivotal role in sex determination. Aberrations of sex chromosomes in diverse ways at different stages of development of an individual result in disorders of sex development (DSD); the understanding of which is often garbled. With a brief introduction to sex determination and sex chromosomes, this article aims to simplify the concept of DSDs.
Stevens-Johnson syndrome is an immune-complex mediated hypersensitivity reaction that can be triggered by infectious etiologies or the use of anticonvulsants, antibiotics or any other drug. The condition is characterized by epidermal necrolysis, separation of the epidermis from the dermis, and the formation of skin blisters and bullae over the face, lips, throat and upper or lower extremities. Patients usually have severe electrolyte disturbances due to excessive fluid loss. Management is largely supportive.
Scabies and head lice infestation are two common parasitic infestations seen in children. Scabies in children can present with diffuse skin lesions and characteristic intraepidermal tunnels known as burrows. The causative mites of scabies live and move inside these tunnels. Intense pruritus is common with scabies. Head louse infestation presents with scalp pruritus, the presence of live lice, and the presence of nits on a physical examination of the hair. Permethrin or ivermectin are indicated for the treatment of both conditions.
Physics is an important subject that helps us understand the processes that take place in life. Physics helps the medical personnel in three major ways. First, it helps clarify the functionality of the medical sciences and technology. Second, physics helps explain the physical systems occurring in the body and, finally, understanding physics helps in many other fields providing the framework to solve unsolved problems.
This article deals with a number of polyneuropathies. It includes entrapment, compressive and peripheral neuropathy. It also includes information on the neuromuscular junction and myasthenic gravis, Lambert-Eaton Myasthenic syndrome and Botulinum toxin. It runs through each disease associated with these pathologies, their etiology/pathophysiology, and diagnosis including history, examination and investigation and the treatment of diseases where appropriate.
Biliary atresia is an acquired obliteration of the biliary tree leading to neonatal cholestasis, secondary biliary cirrhosis, and portal hypertension. It is the most common indication for liver transplant in children. This article discusses in depth the clinical presentation, classification, etiopathogenesis, workup and management of biliary atresia.
This article deals with a number of polyneuropathies. It includes the myopathy junction and dystrophinopathies (Duchenne muscular dystrophy and Becker muscular dystrophy), as well as Limb-Girdle muscular dystrophies and channelopathies, mitochondrial, inflammatory, endocrine and drug induced myopathies. It runs through each disease associated with these pathologies, their etiology/pathophysiology, and diagnosis including history, examination and investigation, and the treatment of the diseases where appropriate.
Approximately, 3% of all congenital anomalies are caused by perinatal infections which include toxoplasmosis, other (syphilis, varicella-zoster, parvovirus B19), rubella, cytomegalovirus (CMV), and herpes infections (TORCH). The mother may be asymptomatic during the antenatal period. Diagnosis of the infection in the mother and monitoring the fetus/baby is essential.
Pityriasis rosea (PR) is a common skin eruption in children that is characterized by a single skin patch that usually evolves into a widespread exanthem after one week. The duration of PR is typically six weeks and the condition is self-limited with excellent prognosis. The diagnosis is established by proper history taking and physical examination of the skin lesions. Laboratory investigations are generally not helpful in the evaluation of the child with PR. Symptomatic treatment with anti-pruritus medications is the mainstay of treatment.
Benign pigmented skin lesions are very common in children and can be generally classified into congenital or acquired nevi. Congenital nevi can be small, medium or large. Large nevi are usually associated with a higher risk of malignant transformation into melanoma. Acquired melanocytic nevi can be classified into typical melanocytic nevi, clonal nevi, or halo nevi. Cytological atypia can be observed in congenital and acquired nevi and is associated with an increased risk of malignancy. Large nevi or nevi with cytological atypia should be completely excised to lower the risk of malignant transformation.
Urticaria is a very common dermatological condition, which is classified into acute urticaria and chronic urticaria based on the duration of the symptoms. The etiology is different for acute and chronic urticaria. Diagnosis requires a thorough history-taking and physical examination, and a laboratory evaluation may be helpful depending upon the underlying etiology. In this article, etiology, pathophysiology, clinical features, diagnosis, differential diagnosis, and management of urticaria will be discussed.
Acute pancreatitis is an inflammatory process of the pancreatic tissue with cellular destruction and elevation of serum pancreatic enzymes. The mortality of acute pancreatitis is high specially with necrotizing and infective pancreatitis due to multisystem organ failure. It is the most common cause of gastrointestinal hospitalization in the United States.
Alagille syndrome is a genetic disease characterized by abnormalities in the liver, heart, eye, kidneys, and skeleton with a typical facial appearance. It is an autosomal disorder caused by mutations in the JAG1 gene and NOTCH2 gene. Both sexes irrespective of geographic, racial or ethnic variations are equally affected by this disorder. Jaundice and heart murmurs with characteristic facial appearance are the main symptoms. Blood and urine analysis, ultrasonography, ECG, liver biopsy and genetic tests are the diagnostic measures. Both Therapeutic and surgical interventions are intended based on the patients’ conditions.
This course is all about the first stage of labor. It begins with the onset of contractions. This stage of labor can come on gradually or all of a sudden. Labor can begin with intact amniotic fluid membranes or can start shortly after the membranes have ruptured. Topics that will be discussed include normal and abnormal labor, fetal heart tracings, and obstetrical anesthesia, which involve several treatment modalities that help relieve pain during this stage of labor.
Stage 2 of labor is the part of the normal labor process that begins with full dilation of the maternal cervix and ends with the delivery of the infant. The second stage of labor has a variable length of time. In multiparous women, it can be as short as a couple of minutes. In primiparous women, this stage of labor can last from twenty minutes to two hours. The contractions will last longer, up to 90 seconds per contraction and will be about three to five minutes apart.
Pediatric respiratory disease related to congenital and genetic etiologies are important topics found on the USMLE. Congenital disease to be aware of include Diaphragmatic hernias, congenital cystic adenomatoid malformation, surfactant deficiency, pediatric pulmonary hypoplasia, and bronchopulmonary dysplasia. Genetic disease to be aware of include cystic fibrosis, alpha 1 antitrypsin, and primary ciliary dyskinesia.
Mental abilities change throughout our lives. As the brain matures and then ages, the neural connections undergo rapid expansion followed by progressive degeneration. It is important for physicians to understand the difference between a normal cognitive decline associated with aging and a pathological decline. While normal aging-related cognitive decline does not impair most activities of daily living (ADL), some activities like driving may be compromised. The pathological cognitive decline, on the other hand, is associated with significantly greater morbidity.
Prenatal care, infant care, child and adolescent care aim to prevent diseases and detect other possible illness. Prenatal care is important for women of childbearing age who are either pregnant or plan to be. It not only includes profile assessment to check for the future risks related to pregnancy but also takes into account the education, immunization, and chemoprophylaxis. Infant care is related to screening neonatal jaundice, vaccinations, and other concerns related to sleep, and use of a pacifier. Important screening during early childhood includes birth history, development, home environment, school readiness, diet, physical activity, and sleep.
Lung cancer is the pre-eminent cause of death in the US. Most cases are diagnosed after 65 years of age. Smoking remains the most common risk factor. In order to diagnose lung cancer at an early stage, U.S. Preventive Services Task Force has given recommendations for screening in certain age groups and individuals. Low-dose CT (LDCT) scan of the chest is used for screening purpose. Screening begins at the age of 55 and continues till the person is 81 years old.
Colorectal cancer (CRC) is the third most regular cancer growth among inhabitants in the United States, and it is the second most frequent cause of death. There have been around 50,000 deaths from CRC in the year 2014 alone. However, the mortality rates have declined since then, owing to screening test measure for early detection and treatment, and prevention through polypectomy. There are certain risk factors associated with CRC which is modifiable such as smoking, obesity, alcohol, and low-fiber, high-fat diet.
Due to medical advances over the last half century, people expect to be cured of all their illnesses and live forever. However, death and dying are inevitable. For people facing death as well as for those around them, the process of dying can be stressful. We as physicians can ease the process for our patients, caregivers and ourselves. To be able to do this, we have to understand what dying entails, and then prepare for the event.
Prelabor rupture of membranes is the rupture of membranes (chorion and amnion) before the onset of labor. The most common cause is an ascending genital tract infection during pregnancy. Other causes are local membrane defects, smoking, polyhydramnios, multiple pregnancies, antepartum hemorrhage, placental abruption and idiopathic. Prelabor rupture of membranes can be pre-viablility, pre-term or at-term and management is planned according to gestational age. It can be diagnosed easily by history and physical examination alone. Numerous maternal and fetal complications may occur, and the decision to deliver the fetus depends upon the risks of getting these complications.
Abnormal menstrual bleeding is a common problem faced by adolescentgirls after menarche. It is marked by irregular bleeding in amount, duration and frequency. It may represent menorrhagia (heavy bleeding at regular intervals), metrorrhagia ( excessive bleeding in irregular intervals) or combination of both or intermittent bleeding or reduced bleeding (oligomenorrhea). About 95 % of abnormal bleeding is characterized by dysfunctional uterine bleeding. The cause of AUB can be physiological or pathological or both. After complete medical evolution, hormonal therapeutic intervention is considered more useful than surgery.
The acute scrotum is an emergency condition that is characterized by scrotal pain, swelling, and redness which are of acute onset. The most important diagnosis to exclude is testicular torsion, as the testicular tissues cannot withstand ischemia for more than few hours.
The absence of menses in a woman is the definition of amenorrhea. Primary amenorrhea is defined as the absence of menses in a 16-year-old girl with secondary sexual characteristics or a 14-year-old girl without secondary sexual characteristics. Secondary amenorrhea is defined as the absence of menses for six consecutive months in a female with a previous irregular pattern of menstruation. If the menstrual cycle is regular, then secondary amenorrhea can be diagnosed in a female who does not have her menses for only three consecutive months.
Breast masses are uncommon in adolescents but can cause significant distress to the affected individual. They are usually benign fibroadenomas, intraductal papilloma, or phyllodes tumors. Malignant phyllodes tumors and primary breast cancer are very rare in adolescents but have been diagnosed before. Treatment of benign lesions is usually local excision, whereas malignant lesions usually need complete surgical resection. Chemotherapy and radiotherapy are not recommended in adolescents with breast cancer.
The third stage of labor begins when the infant is delivered and ends when the placenta has delivered. At this time, the infant is in the hands of a pediatrician or labor/delivery nurse and the risk for operative delivery has ended. Now, the focus is on the safe delivery of an intact placenta and evidence of increased uterine tone, which will stop the intrauterine bleeding. This is the period of time when any lacerations of the cervix or perineum are evaluated and repaired.
A cesarean section is the operative delivery of one or more infants through surgical incision into the maternal abdomen and surgical opening of the uterus in the operating room in order to deliver the infant or infants. Indications for a cesarean section include previous uterine surgery, anomalies of the placenta (such as placenta previa), malpresentation of the fetus, arrest of cervical dilatation, failure of the presenting part to descend in the birth canal, and fetal distress in labor.
Inversion is a type of chromosomal mutation which involves breakage and subsequent reunion of the same chromosomal segment, but in a reverse order. This article encompasses basics of inversion and concludes with segregation characteristics and clinical implications of the same.
Bad news can be perceived differently by different people. Scientific reports suggest that the manner in which a physician breaks the bad news contributes to the patient and his/her family’s response to it. Therefore, it is imperative for physicians to learn the importance of breaking bad news and the manner in which to do it. The most important training for physicians is the art of effectively communicating with their patients.
Major depressive disorder (MDD) is a unipolar mood disorder characterized by persistent low mood and loss of interest in association with somatic symptoms. The overall incidence of the disease is 6.7 % with prevalence increasing with age. Monoamine oxidase deficiency and amine neurotransmission abnormalities are the incriminated causes of the disease. Psychotherapy, pharmacotherapy and electroconvulsive therapy (ECT) are the modalities used to treat the disease. Its leading cause of mortality is suicide, which is more common among the elderly population.
Human papillomavirus infection is common in adolescents and can present with genital warts, precancerous lesions or cervical cancer many decades after acquiring the infection. Genital warts are the most common presentation in adolescents and are usually diagnosed clinically. Screening programs with pap smears and liquid-based cytology are the main tools for the early detection of HPV-associated precancerous lesions. DNA testing is available for HPV typing. Treatment of genital warts can include observation alone or destructive therapy. Treatment of HPV-related precancerous lesions, such as low-grade squamous intraepithelial lesions, should be close monitoring and follow-up. Treatment of cervical cancer is usually inefficient; therefore we should focus on the prevention of the condition by the administration of human papillomavirus vaccines before the initiation of sexual activity.
Pelvic inflammatory disease is a common disorder among young women, especially adolescents. The most important risk factor for pelvic inflammatory disease is previous history of a sexually transmitted infection. Sexually transmitted infections are more commonly identified in adolescents due to physiologic, anatomic and behavioral differences from adult females. Antibiotic therapy that covers chlamydia and gonorrhea is the mainstay of treatment for pelvic inflammatory disease in adolescents.
Dysmenorrhea refers to pain experienced during menstruation. It is a very common problem among adolescent females. It can either be primary or secondary dysmenorrhea. Primary dysmenorrhea is a condition that is characterized by cyclic lower abdominal pain/ pelvic pains, nausea and vomiting experienced during menstruation. Secondary dysmenorrhea refers to pain during menstruation that occurs due to an underlying medical problem such as endometriosis, fibroids and adenomyosis. It presents with both cyclic and acyclic lower abdominal pain. The management of primary dysmenorrhea mainly revolves around the use of nonsteroidal anti-inflammatory drugs or oral contraceptive pills. Patients who fail to respond to this conservative approach should undergo a diagnostic and therapeutic laparoscopy to exclude endometriosis.
Vulvovaginitis is a common condition in adolescents—especially sexually active girls. The diagnosis is usually confirmed by the presence of vulvitis in addition to a vaginal discharge. The physical characteristics of the vaginal discharge can point towards the most likely etiology. Gram stain, wet preparations and culture and sensitivity tests are indicated to define an exact etiology of vaginitis in the adolescent girl as the treatment is dependent on the etiology. Treatment of bacterial vaginosis is mainly metronidazole. Candida vaginitis responds well to clotrimazole. Chlamydial and gonorrheal vaginitis should be treated with azithromycin plus ceftriaxone. Trichomonas vaginitis should be treated with metronidazole.
Dysuria due to urethritis is a widespread problem in adolescent girls which can be caused by either a urinary tract infection or a sexually transmitted disease. The incidence of urethritis due to sexually transmitted infections is highest in sexually active adolescent girls. Cases of urethritis might be complicated by cervicitis and an ascending pelvic inflammatory disease. Therefore, girls with chronic lower abdominal pain and dysuria should undergo a pelvic exam, if possible, to exclude the possibility of pelvic inflammatory disease. Treatment with antibiotics should be started as soon as possible to avoid complications.
Syphilis is becoming more commonl in adolescents nowadays, especially in men. Syphilis is caused by Treponema pallidum. The main risk factors for acquiring syphilis are multiple sexual partners, having previous history of syphilis and having a partner with syphilis. Apart from Nontreponemal reactive tests, treponemal specific reactive tests is highly recommendable to confirm the diagnosis. Once the diagnosis is confirmed, penicillin G should be administered. Response to penicillin G is excellent but doxycycline, ceftriaxone or azithromycin might be indicated in selected cases where affected individuals are allergic to penicillin G.
Pyruvate kinase deficiency is an inherited metabolic disorder characterized by a deficiency in the enzyme "pyruvate kinase" causing hemolytic anemia. It is more severe in early presentation, and it has no sex predilection. The majority of the cases occur because of genetic mutation while some may be caused by diseases such as leukemia and refractory sideroblastic anemia. PKD presents with severe anemia, lethargy, fatigue, failure to thrive and associated complications such as heart failure and liver failure. Diagnosis of the disease is manly done by blood studies that show normocytic normochromic anemia with increased reticulocytes without blood loss. The treatment modalities are mainly conservative involving blood transfusion, folic acid supplements and chelation of deposited iron.
Motion is defined as the act of changing location or position. Three types of motion exist: translational, oscillatory and rotational. Translational motions occur when a change in location takes place. Oscillatory motion is a motion that takes place without changing location. An example of such motion is the vibration of strings on a musical instrument. The rotational motion deals with the spinning of objects.
Force occurs when two objects interact with each other. Each object exerts a force on the other: a push or a pull. When the interaction between the two objects stops, then the force also disappears. This force can be separated into two categories: forces from contact and forces from action-at-a-distance. The difference between the two classifications is whether the two objects are in direct contact with each other or not. The unit of force is newton (N).
Energy is the property that is transferred to an object to allow it to generate work. Energy in the universe is fixed, implying that it can be transferred but cannot be created nor destroyed. Energy exists in many forms: kinetic (moving energy), potential (storing energy), elastic (stretching energy), chemical (reaction energy), radiant (light energy) and thermal(temperature energy). Energy stays constant overall as it is transferred from one form to another.
Work is the result that takes place when a force is applied to an object to move it. Work can be measured by multiplying the force by the distance. It is closely related to energy. The concept referred to as work-energy principle states that an increase in the kinetic energy of an object is due to an equal amount of work performed on the object. The unit of work is the joule (J) which equals a newton-meter (N-m).
Momentum can be understood by looking at the mass and velocity of an object. Mass is a property of an object that measures the amount of matter in an object. Velocity is the amount of distance an object travels over a given time. It is a vector quantity so directionality is also expressed. Momentum is the product of mass and velocity, also a vector quantity. In practicality, momentum refers to the quantity of motion possessed by an object. The unit of momentum is kilogram-meter per second (kg-m/s).
Thoracic traumatic injuries can be generally classified according to the mechanism of injury as blunt or penetrating chest injuries. Chest injuries can be also classified according to the site of injury as chest wall, lung, heart, major blood vessel, and esophageal injuries. The extent and specific type of thoracic traumatic injury can be identified by a proper history and physical examination that is supported by adequate imaging studies. The treatment includes fluid therapy and oxygen supplementation in addition to specific treatments depending on the specific type of injury.
Matter is made up of atoms, and atoms are made up of particles. The particles include protons, neutrons and electrons of which the protons and neutrons make up the nucleus. The electrons exist in a cloud orbiting the nucleus. The electronic structure explains the location and movement of the electrons in atoms. In addition, these electrons exist and move in many different configurations allowing for the existence of different atoms.
Injuries in the urinary bladder and urethra by any trauma are uncommon. The damage and rupture in these organs may occur as a consequence of blunt or penetrating trauma to the pelvis and abdomen. Only a few number of pelvic fractures lead to urinary bladder ruptures. The severity of bladder ruptures depends upon how much of the bladder was full during the time of injury and cause/causes of that injury. In earlier days, the diagnosis of urinary bladder and urethra injury was often missed or delayed due to the lack of proper knowledge and adequate medical instruments. The early diagnosis and proper treatment successfully help patients to avoid several complications.
This article provides a clinical run through increased intracranial pressure for the USMLE step 2 examination. It defines raised ICP, goes through its pathophysiology, progression and special forms, diagnosis, differential diagnosis and treatment (management, including patient monitoring). References for the work are included at the bottom.
Traumatic injuries due to traffic accidents, sports or violence induced incidents, represent one of the major causes of morbidity and mortality nowadays. Significant portion of all trauma cases include head trauma, which can be divided into fractures, brain traumatic injuries, hematomas (both extra axial and parenchymal) and diffuse axonal injuries (DAI). Recognition of the signs and symptoms is of uttermost importance, for head trauma can be as mild as every day bruises and bumps to the head, or severe and life threatening. Rapid recognition, dedicated diagnosis and adequate imaging which lead to proper treatment - both conservative and surgical - are essential for the best possible, complication- and sequel-free, outcome.
Erythema nodosum (EN) is a reactive process of the skin which can be triggered by a number of factors. EN is an acute, but self-limiting disease with preponderance for females in 20 to 40 years of age. In this article, epidemiology, etiology, pathophysiology, symptoms, diagnosis, differential diagnosis and therapy of EN will be discussed.
Alopecia areata is an autoimmune disease of unknown etiology characterized by recurrent non-scarring hair loss in hair bearing areas, ranging from a small patch to complete loss of hair. It is a benign condition occurs usually without symptoms. Burning sensation and pruritus in affected area can be present in rare cases. Other autoimmune diseases maybe associated such as thyroid diseases and vitiligo. A scalp biopsy may be required for diagnosis in some cases. Treatment is based on the type of alopecia which includes topical minoxidil, corticosteroids (topical, intralesional, or oral), or anti-androgens.
Traumatic injuries are one of major causes of high morbidity and mortality nowadays. Traffic accidents, sports related and violence-induced traumas often include thoracic trauma. Different classification and scoring systems are available, all made with the same goal: recognition of signs and symptoms, rapid primary assessment, timely and to the point diagnostic procedures, proper treatment and all leading to the same point which is a lesser time to recover and a favorable outcome.
A probability model represents a random phenomenon by using mathematical expressions. It exhibits the probabilities and occurrence chances of an outcome associated with an event. It depicts the possible outcomes for a phenomena by counting outcomes associated with each event.
This article discusses residuals plots explaining dependent and independent variable on random and non-random pattern. The article has explained the impact of violation of regression assumptions. Groups and subsets mentioned in this article explain problems with multiple groups and separate regression. This article has also discussed outliers, leverage, influential points, lurking variables and causation. Transformation of data explained in this article stated goals of transformation, appropriate transformations and types of Logarithmic transformations.
The intestine is part of the GI tract responsible for food digestion and absorption. The large surface area of the intestinal wall formed by villi, plicae and valvulae is responsible for the absorption of water, minerals, vitamins and all nutritional components. The small intestine is more vulnerable to obstruction for many reasons including the length, diameter and location. Intestinal obstruction can be actual mechanical obstruction or compression and can be functional paralysis of the hollow muscular organ. The most common cause of obstruction is external adhesions following abdominal surgical interventions and obstruction complicating hernias. Bowel obstruction is sometimes partial chronic obstruction due to adhesions, irradiation and Crohn's disease causing strictures or intestinal wall neoplasm or polyp.
Milk protein allergy or intolerance is characterized by an allergic reaction to the protein found in cow’s milk. It manifests as a variety of symptoms and signs which develop during infancy and regress by the fifth year. However, they are responsible for significant anxiety and parental distress leading to children being put on milk-free diets with subsequent nutritional deficiencies; therefore, it is important to diagnose this condition and counsel parents accordingly.
The esophagus can be injured by blunt or penetrating traumatic injuries. These type of injuries are rare, but they still life-threatening conditions. Most causes of esophageal injuries are considered iatrogenic, but may be spontaneous or traumatic. Rapid diagnosis and management provides the best chance for the patient to live without disabilities. However, delayed diagnosis is common, leading to increasing morbidity and mortality. In this article, we will discuss the pathophysiology, etiology, investigations, and management for this potentially fatal gastrointestinal condition.
Erythema multiforme (EM) is a type of cytotoxic dermatitis, which can be triggered by many factors; mainly herpes simplex infection and drugs being the implicating factors. Although it is self-limiting, recurrences are common. In this article, definition, epidemiology, aetiology, pathology, pathophysiology, symptoms, diagnosis, differential diagnosis, therapy, prognosis and progression of EM will be discussed.
This article has covered the introduction to probability and general rules of probability, including the law of large numbers and law of average numbers. The article has also mentioned types of probability i.e. theoretical probability, relative frequency and subjective probability. The five rules of probability are included in this article, along with probability pitfalls, conditional probability and reversing conditioning.
The probability models included in this article explain sample space, types of random variables and expected values of each sample. The properties of expected value of each sample in a population, properties of variance and continuous random variable are also explained in this article. The issues in probability models and random variables are another part of this article.
This article explains the graphical displays, including quantitative variables, histogram, stem and leaf plot and shape of a distribution. The modes discussed in this article are one mode, two modes and more than two modes. The article also explains the difference between a histogram and stem and leaf plot for the presentation of distribution in a graph. The spread of distribution includes a range i.e. interquartile range.
This article discusses the randomness of a sample for selection in a population and survey sampling method and techniques. The types of sampling include simple random sample, sampling frame, stratified sampling, cluster sampling, multi-stage sampling and systematic sampling. The article also explains common mistakes in sampling survey.
This article mentions techniques for the comparison of distributions by using histogram, box plots and side by side comparison. It also includes and explains the concept of outliers and types of outliers, i.e. point outlier, contextual outlier, collective outlier and the impact of outlier on data distribution. Data transformation mentioned in this article includes log transformation.
The selection of contraceptives is a personal choice, but the physician should provide information to the patient regarding the optimal contraception. The postpartum period is an ideal time to initiate contraception as women are continuing to follow up with their healthcare providers, and are likely to be more motivated to avoid the next pregnancy soon.
Celiac disease is an autoimmune disease prevalent in adults, as well as genetically susceptible children. Affected individuals are hypersensitive to, gluten, a protein, which is present in wheat, barley, and rye. It is prevalent in approximately 1% of the United States population and has also been detected in Europe, Middle East, and Asia. The diagnosis of the disease in children depends on blood tests and an intestinal biopsy.
While most people consider their and their family member’s health a precious gift and want to preserve it at all costs, there are also those who do the exact opposite. They make their children deliberately ill and they get satisfaction from the dependency situation.
Preseptal and orbital cellulitis are possible complications to paranasal sinusitis or trauma to the eye orbit. In preseptal cellulitis, the infection is limited to the eyelid and tissues anterior to the orbital septum, the condition is usually milder, eye vision and ophthalmological examination are usually normal, and medical antibiotic therapy with oral antibiotics is sufficient. Patients with orbital cellulitis have ophthalmoplegia, can be toxic, their vision is usually impaired, can have optic nerve edema, and usually require inpatient treatment with intravenous antibiotics. Surgical intervention is more common with orbital cellulitis.
The future gender of the individual coming into being is already fixed on a chromosomal level during the fertilization of the ovum. The determination and differentiation of the gender take place during the embryogenesis. Disturbances of the sexual differentiation can arise due to chromosome anomalies, gene mutations and exogenous or endogenous influences, which are remarkable at last in the puberty and cause patients to consult a doctor.
The gender of the individual coming into being is already fixed on a chromosomal level during the fertilization of the ovum. Gender differentiation occurs during embryogenesis. Disturbances in sexual differentiation can arise due to chromosome anomalies, gene mutations and exogenous or endogenous influences, which are often observed during puberty and cause patients to consult a doctor.
Single gene disorders are caused by defects in a single gene. Although they are rare, they affect approximately 1% of the population. These can be dominant, recessive or X-linked. On the other hand, trinucleotide repeat or CGG expanding repeat disorders are characterized by the repetition of the trinucleotide sequence in certain genes leading to gene defects and disorders. Examples of trinucleotide repeat disorders include Fragile X syndrome, Huntington’s disorder, and Spinocerebellar ataxia.
The most common form of cardiac arrhythmia in children is sinus tachycardia which can be caused by fever. Bradycardia can occur in children due to a depressed sinus node as is seen in hypoxemia, acidosis, or structural heart disease. A complete heart block is another possible cause of a slow heart rate in children. Patients can present with palpitations, presyncope, syncope, dizziness and confusion. Diagnostic workup should focus on the identification of the exact type of the arrhythmia by performing an electrocardiogram, identifying the etiology, and ordering advanced electrophysiology studies. Treatment should be tailored against the possible etiology of the arrhythmia whenever possible.
Conus medullaris and cauda equina syndromes are spinal cord injuries that involve injury to the lumbosacral segment of the spinal cord. They are majorly due to traumatic events and present with features of lower motor neuron and upper motor neuron lesions involving the bladder, bowel, nearby skin and muscles.
Gases are one of the phases of matter where the particles are vastly separated unlike what takes place in solids and liquids where particles are closer together. Gases are hard to observe so they are classified according to temperature, a number of particles, pressure, and volume.
Body dysmorphic disorder is a common psychiatric condition that is characterized by the preoccupation with false ideas about one’s own physical appearance. This preoccupation leads to repetitive compulsive behavior that aims to fix the perceived physical defects. Patients with body dysmorphic disorder might have good insight, poor insight or completely absent insight. When patients have poor insight or completely absent insight into their condition, cognitive-behavioral therapy might fail. Patients with good insight who know that their beliefs about their body appearance are probably wrong usually respond well to intensive cognitive-behavioral therapy. Serotonin-reuptake inhibitors, serotonin-norepinephrine reuptake inhibitors, and some antiepileptic medications have been used for the pharmacotherapy management of body dysmorphic disorder.
Dissociative dementia is a type of dissociative disorder characterized by temporary memory gap achieved to compensate any stressful or traumatic event of life. It involves an incapability to recall personal information, usually of a trauma or stressful event consciously. The forgotten information remains in conscious part of mind which can influence the behavior of the patient. Additionally, dissociative amnesia is more common in patients with other comorbid psychiatric illness such as depression and conversion disorder. Dissociative amnesia might be generalized or localized or continuous or systematized. The most common type is the localized loss of certain life events that are usually traumatic and unpleasant.
Depersonalization or Derealization symptoms are common in the general population. The recurrent or almost persistent episodes of depersonalization or derealization are the cornerstone for the diagnosis of this disorder. It is reported in about 2 % of the population. These recurrent episodes are characterized by experiencing unreality about one’s own self, i.e. depersonalization, or one’s surroundings, i.e. derealization. Crisis intervention therapy during the acute episodes, combined with psychodynamic therapy during asymptomatic period is the main line of treatment for depersonalization/derealization disorder.
Dissociative disorders are a group of psychiatric conditions that are characterized by dissociation. Dissociation is defined as forgetting or abandoning one’s own identity and the loss of certain autobiographical memories in the process. Based on this definition, the most important dissociative disorders to study are dissociative identity disorder, dissociative amnesia, and fugue. Multiple personality disorder with dissociation or amnesia is now known as dissociative disorder, non-specified.
Dissociative identity disorder is a rare condition that is characterized by the presence of two or more distinct personality identities in the patient. The condition resembles possession. Dissociation is an essential part in the diagnosis without which, the diagnosis cannot be made. Treatment of dissociative identity disorder involves the identification of the most likely childhood trauma that caused the split, and fusion therapy to fuse as many personalities as we can into one coherent personality.
A dissociative fugue is a specific form of dissociative amnesia that is characterized by the memory loss of one’s identity and past life, in addition to the unexpected and purposeful travel away from home without planning or warning. The patient might also create a new identity to compensate for the severe memory loss without a conscious acknowledgement and a reason of the flight. Fugue has been suggested to be caused by severe traumatic life events or stress. Patients with fugue might respond to cognitive therapy or hypnosis. Barbiturates might be used for a medicated-interview to reveal more information about a suppressed traumatic trigger.
Malingering is not a medical diagnosis. It is a condition that is characterized by providing intentional false information about non-existent symptoms or by exaggerating real symptoms to get some gain. This gain is usually in the form of financial compensation, avoiding work, or avoiding criminal prosecution. Symptom validity tests are used to detect cases of malingering. Once the possibility of malingering is confirmed, the best approach should be the confrontation of the subject.
Somatic pain disorder is very common in the general population, especially in females. The previous history of sexual, physical or emotional abuse might increase the risk of chronic pain syndrome and somatic pain disorders. The diagnosis is based on the DSM-IV criteria. Brain imaging studies have identified novel therapeutic targets which are very promising in the management of chronic pain. The current treatment options include antidepressants, group psychotherapy, and the proper explanation of the nature of the symptoms and the most likely cause.
Somatic Symptom Disorder is a condition that is characterized by the presence of one or more somatic symptoms that are associated with excessive thoughts and feelings about them which lead to excessive behaviors. This should be associated with significant distress in the everyday life of the patient. Patients who are diagnosed with somatic symptom disorder should be given full medical care whenever they present to the emergency department, and proper exclusion of life-threatening conditions, such as a myocardial infarction, is needed. Patients with a good insight into their condition respond well to cognitive-behavioral therapy.
The DSM-5 has always faced criticism over the term “psychological factors affecting other medical conditions” because the clinical application was always unclear. The simplest way to define this term might be the presence of psychological or behavioral factors that adversely affect an organic medical condition in a patient with confirmed medical illness other than a mental disorder. These psychological factors should show a positive temporal relationship with disease’s exacerbations or delayed recovery.
Fragile X Syndrome results from a mutation in the promoter region of FMR1 gene. A characteristic physical phenotype of FXR includes a long face, prominent forehead, high arched palate, large ears and flat feet. Learning disability, social anxiety, hypersensitivity to different stimuli, attention deficit hyperactivity disorder and lack of clarity in speech are some of the clinical features of FXR. Molecular genetic testing is used for diagnosis. Treatment is aimed at improving psychiatric issues and associated physical conditions.
Williams Syndrome results from microdeletion in a region q11.23 of chromosome 7. It mostly results from de novo mutations and follows an autosomal dominant pattern. The affected individuals have a characteristic elfin facies. Common variable clinical abnormalities related to Williams Syndrome are cardiovascular diseases (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, and hypertension), connective tissue abnormalities, developmental delays, short stature, endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty) transient neonatal hypercalcemia, and mild to moderate intellectual disability. Fluorescent in situ hybridization (FISH) test is used to diagnose the syndrome. Treatment includes a multi-disciplinary approach.
DiGeorge Syndrome results from microdeletion in a small segment of chromosome 22. When inherited from parents, it follows an autosomal dominant pattern. There are variable clinical features related to DiGeorge Syndrome. Most common ones are congenital heart diseases, thymic hypoplasia, learning difficulties, characteristic facial appearance, hypocalcemia, and psychotic disorders later in adolescence. Microarray genetic testing is used to diagnose the syndrome. Early intervention and developmental evaluation is the key to treatment which includes multidisciplinary approach.
Patients with drug overdose or substance abuse present as unconscious, hyperstimulated, or with psychotic features. Acute management includes basic life support protocol, sedation, as well as symptomatic and supportive treatment. Antidotes should be given if available. Oral drug overdose requires GI decontamination using activated charcoal and gastric lavage. Incidents of drug abuse can be decreased through parental monitoring and supportive family relationships.
Abdominal pain can be classified into acute or chronic ranging from benign, self-limiting condition to life threatening conditions. The underlying etiology of abdominal pain can be distention, contraction, compression, and torsion of abdominal contents with other pathological reasons. Localization of pain should be definite to diagnose and ensure proper treatment. Apart from patient’s history, physical examination, laboratory results, imaging through ultrasound and CT scan are often indicated to establish the definite diagnosis and treatment.
Adolescence is a developmental age where the youth undergoes a number of challenges in society and academics. There is a need for intimacy and increased responsibilities towards society an academics. One in every six adolescents experiences depression at least once in a lifetime and nearly one third reflect the symptoms of their behavior. Females are more susceptible to major depressive disorders as compared to males.
Cognitive therapy changes a person's thinking towards a situation by exposing the less negative possibilities/outcomes that may exist. Behavioral therapy changes a person's thinking towards a situation by modifying the way he behaves in that situation. Therefore, both cognitive and behavioral therapy aim at changing the way a person thinks. Cognitive and behavioral therapy can be used singularly or combined to treat a number of psychiatric conditions. The specific techniques in cognitive behavioral therapy include relaxation, exposure, social skills training (assertiveness training and anger management), enuresis alarms and dialectic behavioral therapy.
Inflammatory bowel disease is an autoimmune condition of intestine characterized by non-regulated immune response generated to the intestinal cells. Inflammatory bowel disease can be present at any age, but more than one-fourth to half of the newly diagnosed patients are children or adolescents. The condition is characterized by chronic inflammation of the intestinal tract and has an autoimmune etiology. Diagnosis of the disease in children can be challenging as children may be asymptomatic or may present with extra-hepatic manifestations. It is imperative for pediatricians and physicians to be aware of this condition and its complications.
Allergies are the reactions mediated by immune system against a specific substance or allergen. Allergen can be certain food, dust, pollen, or medicines. The common allergic conditions are asthma, contact dermitis, hay fever, allergic rhinitis, eczema, food allergies, urticaria and angioedema. Urticaria is characterized by discrete raised and red lesions of the skin due to edema within the dermis and epidermis. When the extravasation of fluid involves the subcutaneous tissue, the term angioedema is used. Child’s medical history and allergy skin test establishes the diagnosis. Avoidance of allergens are recommended in the management.
Coarctation of the aorta is a constriction usually occurring opposite the patent ductus arteriosus insertion site. Patients might present with signs and symptoms suggestive of congestive heart failure early in life or with hypertension later in life. Echocardiography and magnetic resonance imaging or computed tomography are the mainstay diagnostic modalities for the disease. Medical therapy for congestive heart failure mainly consists of diuretics and inotropic drugs. Beta-blockers might be used for the treatment of hypertension in patients with coarctation of the aorta, but a surgical intervention to relieve the aortic obstruction is usually preferred.
A panic disorder is when recurrent and episodic panic attacks occur abruptly without a trigger. Diagnosing a panic disorder may become challenging because panic attacks can also occur with other anxiety and mental disorders. However, by following the correct approach, which first includes ruling out other disorders (by taking a thorough history and performing relevant investigations) and then following the proposed diagnostic criteria for panic disorder, one can reach a diagnosis. The pathogenesis of panic disorder is a combination of an underlying predisposition that triggered by a life stress (e.g. separations during childhood or interpersonal loss in adulthood). Management includes both psychological treatments, as well as medical treatment.
Blue babies lack sufficient oxygenation, resulting in the bluish discoloration of tissues, a term referred to as cyanosis. There are two major types of cyanosis: central and peripheral cyanosis. Although cyanosis is a clinical diagnosis and is common in neonates, its etiology is established through proper history and examination along with chest x-ray, electrocardiogram, echocardiogram, and recently a hyperoxia test.
Infective endocarditis is a common serious infectious pathology in children. The most commonly identified organisms are of the streptococcus and staphylococcus species. Patients always have a fever. Other signs of infective endocarditis include Roth spots, splinter hemorrhages and Osler nodes. Blood cultures and echocardiography are very important in the establishment of the diagnosis. The diagnosis of infective endocarditis is based on the presence of major and/or minor criteria from the modified Duke’s criteria for infective endocarditis. Antibiotic therapy is essential and life-saving.
Tuberculosis in children is more common in the developing world, or in areas where tuberculosis is epidemic, such as India. The condition is caused by Mycobacterium tuberculosis. Patients present with fever, weight loss, anorexia and night sweats. The disease can be pulmonary or extrapulmonary. Anti-TB drugs combination of three or four different agents for two months, followed by isoniazid and rifampin combination therapy for another four to seven months, is indicated for the treatment of a confirmed case of tuberculosis.
Vesicoureteral reflux (VUR) is the retrograde flow of urine from the urinary bladder to the ureter and the kidney. It can be asymptomatic and resolve itself, or be associated with urinary tract infections (UTI), leading to pyelonephritis and nephropathy, which may lead to the complications of renal scarring, renal insufficiency, and hypertension. Treatment is guided by grade of reflux and the age of the patient. Prognosis is usually good. In this article, etiology, pathophysiology, symptoms, diagnosis, differential diagnosis, and treatment of paediatric vesicoureteral reflux are described.
Cardiomyopathies encompass a wide range of myocardial diseases that present with various structures such as ventricular dilatation as seen in dilated cardiomyopathy, or ventricular constriction as seen with restrictive cardiomyopathy and constrictive pericarditis. The eventual serious outcome is the development of congestive heart failure, where Symptomatic treatmen or even heart transplantation should might be offered for affected children. Echocardiography and magnetic resonance imaging are the main diagnostic modalities for cardiomyopathies in children.
Acute shoulder pain is a common symptom that arises from a diseased structure that makes up the shoulder joint from bone fractures to soft tissue inflammation. Age is a factor which plays an important role in predicting injuries. Rotator cuff injuries are the most common causes of shoulder pain, but systemic causes such as myocardial ischemia and neck pathology must be ruled out. Diagnosis of these conditions is mostly clinical and radiological investigation supports the diagnosis. Treatment depends on the underlying cause.
Shoulder pain is the third most common presenting complaint to the primary care practice. Age is a factor which plays an important role in predicting injuries. Clavicular fractures are usually traumatic. Shoulder dislocations are more common in teens to the fourth decade. Other conditions which can give rise to acute shoulder pain are impingement syndrome, frozen shoulder, and bursitis. Diagnosis of these conditions is mostly clinical and radiological investigation supports the diagnosis, with the management depending on the etiology.
Tetralogy of Fallot is considered as the most common form of cyanotic congenital heart disease. The condition might be associated with other extracardiac abnormalities, such as cleft palate or facial anomalies. Echocardiography and magnetic resonance imaging studies are helpful in the assessment of the degree of the right ventricular outflow tract obstruction which is responsible for the symptoms of Tetralogy of Fallot including cyanosis. The only definitive treatment for Tetralogy of Fallot is a primary surgical correction.
Patients with a total anomalous pulmonary venous connection (TAPVC) have abnormally draining pulmonary veins that drain into the right atrium or the systemic venous circulation. Patients are usually symptomatic early in life. If left untreated, the condition is usually fatal. Echocardiography and magnetic resonance imaging are helpful in the confirmation of the diagnosis. Surgical correction for redirection of the pulmonary veins drainage to the left atrium is the mainstay of treatment.
This article deals with linear regression as a means to describe the relationship between two variables using a line. You will learn about assumptions, residuals, extrapolation, variation and the appropriateness of linear regression in different cases.
Acute sinusitis is very common in children and can be classified as bacterial or viral depending on the etiology. The diagnosis of acute sinusitis in children should be based on the presence of clinical findings that are suggestive of acute sinusitis rather than on imaging findings. The diagnosis can be confirmed by performing a culture and sensitivity test of the paranasal discharge. Once the diagnosis of acute bacterial rhinosinusitis is suspected, antibiotic therapy should be initiated. Symptomatic treatment of viral sinusitis includes oral antihistamines and topical decongestants. Adjunctive therapy for bacterial sinusitis includes intranasal corticosteroids.
Bilirubin is a yellow compound that is the product of the catabolism of ageing heme. It can be used to determine abnormality in liver functions as characterized by the yellowing of skin and mucous membranes such as sclera of the eyes and dorsum of the tongue. In this article, we will discuss about the biochemistry of bilirubin; specifically, the synthesis of the compound and the important enzymes used in the synthesis of this biomolecule.
Acute back pain is a common symptoms in primary care practice. The acute back pain is usually benign in nature in 90% of cases. The patient experiences acute back pain with functional limitations and recurrences. Laboratory tests and radiographs are not necessary in most of cases except in those cases, serious etiology such as infection, malignancy, neurological diseases and rheumatic diseases are suspected. Surgical intervention is recommended in worse neurological disorders and intractable pain where conservative treatment by medicines and physical therapy failed.
Renal tubular acidosis type 1, also called distal renal tubular acidosis is characterized by hyperchloremic metabolic acidosis, hypokalemia, hypercalciuria, and hypocitraturia. Its etiology is variable and includes sporadic, hereditary, and acquired forms. It should be differentiated from other forms of RTA and other causes of metabolic acidosis. Long-term alkali therapy is the mainstay of the treatment. In this article, etiology, pathophysiology, symptoms, diagnosis, differential diagnosis, treatment and prognosis of renal tubular acidosis type 1 are described.
Renal tubular acidosis (RTA) type 2, also called proximal renal tubular acidosis, is characterized by hyperchloremic metabolic acidosis due to the impaired reabsorption of bicarbonate (HCO3-) in proximal tubules. It can be due to an isolated defect or part of a generalized defect (Fanconi syndrome). Rickets/Osteomalacia is more common and treatment is usually difficult. RTA type 3 is designated when the combined features of both type 1 and type 2 RTA are present. In this article, the etiology, pathophysiology, symptoms, diagnosis, differential diagnosis, treatment and prognosis of renal tubular acidosis type 2 are described.
Renal tubular acidosis (RTA) type 4, also called hyperkalemic renal tubular acidosis, is characterized by hyperchloremic metabolic acidosis, hyperkalemia, and decreased urinary NH4+ excretion, usually due to hypoaldosteronism or aldosterone resistance. Children usually present with growth failure or symptoms of an underlying condition. Treatment of hyperkalemia and alkali supplementation for the correction of acidosis are the mainstay of treatment. In this article, the etiology, pathophysiology, symptoms, diagnosis, differential diagnosis, treatment and prognosis of renal tubular acidosis type 4 are described.
Fluid replacement therapy is required to maintain the volume and electrolyte levels in the body. It is an important aspect of care in children requiring hospitalization as children have a lower body weight and surface area compared to adults and their fluid requirements vary based on weight, disease, and level of dehydration. The dose required for hydration must be calculated accurately to prevent fluid overload, electrolyte imbalance and related adverse effects.
Cryptorchidism or undescended testis is the most common disorder of the sexual differentiation, seen in 2—4% of male infants at birth. The exact cause of the cryptorchidism is still not known. Early treatment of this condition is necessary to avoid complications, such as infertility, testicular malignancy, torsion, and/or an inguinal hernia in later life. The treatment is essentially surgical which involves the re-positioning of the testis within the scrotal sac, also known as an orchidopexy. The currently recommended timing for an orchidopexy is between 6 and 12 months of life. In this article, epidemiology, etiology, pathogenesis, diagnosis, differential diagnosis, evaluation, complications and the treatment of undescended testis in children are described.
Neck pain is one of the most common complaints in the general population and the fourth leading cause of disability following low back pain, depression, and arthralgia. According to the duration of the symptoms, it can be acute, sub-acute or chronic. The most common causes of neck pain are posture-related, cervical radiculopathy, myelopathy, degenerative diseases, or trauma. Careful physical and clinical evaluation can be helpful in finding out the cause. Treatment of neck pain is usually conservative. Patients who do not respond to medical therapy might benefit from a surgical intervention.
Tricuspid atresia is the third most common type of the cyanotic congenital heart diseases, the other two being transposition of the vessels and tetralogy of Fallot. Patients usually present with cyanosis, respiratory distress, syncope, and confusion. Patients with headaches or seizures might have brain abscesses due to the embolism of an infected mural thrombus from the heart to the brain. Polycythemia is commonly seen in patients with tricuspid atresia and is attributed to cyanosis. Echocardiography is the imaging modality of choice for the confirmation of the diagnosis and the exclusion of other cardiovascular abnormalities. Medical treatment of tricuspid atresia includes the administration of prostaglandin E to maintain the patency of the ductusarteriosus. Surgical intervention is indicated in patients with severe cyanosis or with congestive heart failure.
Obsessive-compulsive disorder (OCD) is a disorder in which patients experience either obsessions (intrusive, senseless and anxiety provoking thoughts) alone or a combination of obsessions and compulsions (anxiety releasing rituals) due to which an individual's level of functioning is affected. Genetic factors, a proposed biological model, and a proposed cognitive behavioral model are seen to play a role in the pathogenesis of OCD. The diagnosis of OCD is purely clinical and no investigations are needed. A thorough history of the patient's obsessions and compulsions and their comparison with certain 'identifiable themes' will aid in the diagnosis. The management of OCD can be done with a combination of cognitive behavior therapy and physical treatments (tricyclic anti-depressants, selective serotonin reuptake inhibitors, anti-glutamatergic agents, deep brain stimulation and psychosurgery) and OCD is related to a number of medical comorbidities.
The occurrence of a pregnancy begins with fertilization of the egg and then lasts for 40 weeks. During this time, the fertilized egg passes through various stages. Pregnant women are given precautionary examinations at certain intervals to prevent serious complications and to check the vital signs of the fetus. Complications include abortion, placental insufficiency or developmental disorders. In order to prepare for the exam, you will receive all relevant information on pregnancy in the article.
Pancreatic cancer is one of the most aggressive malignant tumors worldwide. It is considered the 4th cause of overall cancer mortality among cancer patients. 5-year survival rate for stage 1A pancreatic cancer patients is less than 15%. Patients usually have vague complaints leading to late presentation and early metastasis which contribute to the high mortality rate. Tumors of the pancreas can arise from the exocrine part, mainly the duct system, which is the most common, or arise from the endocrine islet cells (neuroendocrine tumors) which are less common. Most of the pancreatic tumors arise in the head or neck of the pancreas with less frequent tumors arising from the body and tail.
A retropharyngeal abscess is an abscess located behind the posterior pharyngeal wall in the retropharyngeal space. A retropharyngeal abscess is difficult to diagnose by physical examination because they are located in the deep tissue spaces. The patient usually presents with a stiff neck and difficulty in swallowing. As the deep spaces in the neck are continuous with one another, the abscess can pass from the parapharyngeal space to the retropharyngeal space and then behind the esophagus into the mediastinum.
Stomatitis generally refers to the inflammation of the mouth and lips. Stomatitis can occur with or without oral ulceration. When stomatitis occurs, along with gingival inflammation, then the condition is known as gingivostomatitis. There are many causes of stomatitis of which common are infections, nutritional deficiencies chemotherapy and radiotherapy. Stomatitis can occur in any part of the mouth and disrupts one’s ability to talk, sleep and eat.
Epiglottitis, as the name suggests, is the inflammation of the epiglottis. Symptoms are rapid in onset and are severe. The infection can cause airway obstruction leading to difficulty in breathing, stridor and bluish discoloration of the skin ultimately leading to death.
Breast cancer in women is the most common type of cancer worldwide. Women have a much greater chance of developing breast cancer as compared to men. American Cancer Society (ACS), US Preventive Services Task Force, and the American Congress of Obstetricians and Gynecologists recommend screening for specific age groups to detect breast cancer at an early stage. The screening tests include clinical examination, mammography, and MRI. Mammography, however, remains the most favored method.
There are two types of catecholamine secreting tumors: pheochromocytomas which arise from the chromaffin cells of the adrenal medulla and paragangliomas which arise from the sympathetic ganglia or other cells derived from the neural crest. Catecholamines include epinephrine and norepinephrine, and both are released upon the stimulation of the sympathetic preganglionic nerve fibers during times of stress or sympathetic activation.
Croup is a disease caused by viral infection which results in swelling inside the trachea, interferes with normal breathing and hence develops a specific barking cough. It is also known as Laryngotracheobronchitis.
Peritonsillar abscess, also known as quinsy, is the collection of pus in the peritonsillar space. It is a common complication of tonsillitis and is an otolaryngological emergency. It accounts for about 30% of head and neck abscesses.
Acute otitis media in children is very common with an estimated incidence of 85% within the first year of life. Children usually present with fever, ear fullness, ear discharge and conductive hearing loss. The most common etiologies of acute otitis media in children are Streptococcus pneumoniae, Haemophilus influenzae, and Moraxella catarrhalis. The diagnosis is based on clinical examination and pneumatic otoscopy findings. Symptomatic treatment is indicated in children and antibiotic therapy should be reserved for those who do not show any clinical improvement within three days after the onset of the disease. Amoxicillin is the antibiotic of choice for acute otitis media in children.
Acute otitis externa is defined as the inflammation of the external acoustic meatus and is usually of bacterial etiology in children. The most common causative organism is pseudomonas. Children usually present with ear pain, ear fullness and ear discharge. Fever might be present. Recent prolonged exposure to water, such as partaking in aquatic activities, can be the predisposing factor for the development of acute otitis externa in a considerable number of cases. Children with acute otitis externa should receive oral analgesia in addition to topical antibiotic therapy. Ciprofloxacin or gentamicin eardrops can be used for the topical management of acute otitis externa in children, but gentamicin should be avoided in case of a perforated tympanic membrane. The prognosis of acute otitis externa is excellent with proper antibiotic therapy. Patients usually improve within 48 hours of antibiotic therapy initiation.
Family medicine encompasses several medical specialties and a family physician must train to be a “jack of all” medical disciplines, caring for pediatric as well as elderly patients. Residency training in family medicine includes rotations in internal medicine, pediatrics, obstetrics and gynecology, psychiatry, and geriatrics. In addition, knowledge of interpersonal skills, compassion, and professionalism are essential to developing long-term relationships with the patients and their families.
The systemic inflammatory response syndrome is an acute inflammatory pathology with a systemic body reaction. Triggers include traumata, big operations, inflammations or, for example, infections. If pathological germs get from one source of infection into the bloodstream, a sepsis or blood poisoning occurs. Sepsis and septic shock are the main causes of death on the Intensive Care Unit.
Errors in the metabolic pathways can lead to a number of diseases. Glycogen storage disease is a common carbohydrate metabolism disorder. There are 7 types of GSD, of which type I, II and V are more common. Galactosemia results from GALT deficiency. Symptoms are seen once milk is introduced. Phenylketonuria is the most common error of amino acid metabolism. Other amino acid disorders include homocystinuria, alkaptonuria and organic academics.
Bacteria, viruses, and parasites can get transmitted to the human body through a tick bite. The most common tick-borne disease in the U.S is Lyme disease. Almost 80% of Lyme disease cases present with Erythema migrans rash. The first line of treatment for children and adults is Doxycycline. Rocky Mountain spotted fever can prove fatal if not treated promptly. The disease presents as a sudden onset of fever and headache. Doxycycline is the treatment of choice.
Vaccinations are aimed at the prevention of potentially life-threatening diseases. Common recommended vaccinations include Hepatitis B vaccine, Rotavirus vaccine, Pneumococcal PCV 13 vaccine, HiB vaccine, MMR, Inactivated Polio Vaccine, Varicella vaccine and Hepatitis A vaccine. Side effects of these vaccines range from mild swelling at the site of the shot to seizure and jerking. Combination vaccines are also available to inject more than one vaccine with one shot.
Wide usage of Acetaminophen in children is practiced due to its established safety and efficacy. The risk of allergic toxic reactions against acetaminophen is low in children as compared to adults. The unintentional inappropriate doses can induce hepatic toxicity in many pediatric cases. The symptoms represented by paracetamol toxicity in children are non-specific. Hence, delayed diagnosis and management of acetaminophen intoxication can happen in unintentional cases of toxicity due to its overdoses.
Type 2 diabetes is becoming more common in children due to the increasing incidence of obesity in the pediatric population. Children with type 2 diabetes usually present with obesity, symptoms suggestive of insulin resistance, and a confirmatory laboratory test of an elevated random plasma glucose or fasting plasma glucose concentration or an elevated hemoglobin A1C percentage. The classical symptoms of diabetes such as polydipsia and polyuria are usually seen late in the presentation of type 2 diabetes in children. Metformin should be used in all children with type 2 diabetes.
Cushing syndrome albeit being a rare diagnosis in children; is tantalizing and a difficult condition to detect and manage. This article envisages elaborating about the cause, presentation, and treatment of Cushing’s syndrome in children.
Lead poisoning in children can be defined as a blood lead level of 10 µg/dL or more or 5 µg/dL or more in a child with suspected or documented exposure to lead. The most common sources of lead include lead-based paint, batteries, and leaded-gasoline. Symptoms of lead poisoning include constipation, abdominal pain, vomiting, loss of appetite, and impaired neurobehavioral performance. Learning difficulties are common. Lead encephalopathy presents with symptoms and signs suggestive of increased intracranial pressure and can be complicated by cerebral edema. Chelation therapy is indicated in children with blood lead levels of 45 µg/dL or more.
Epistaxis in children is a common presentation that can be caused by a local nasal pathology, an underlying systemic pathology or an idiopathic etiology. In most cases, humidity of the air and hot weather are to blame for the epistaxis episode. Adequate history taking and laboratory evaluation of the child with epistaxis is essential to exclude possible etiologies such as anemia, acquired coagulopathies, or congenital coagulopathies. Conservative treatment is usually successful in most children, but primary treatment with cauterization or medical therapy with a vasoconstrictor might be indicated in selected cases of severe epistaxis.
Burns are common in children and can provide a challenge to the treating physician. Airway, breathing and circulation need to be secured before the local assessment of the burns is carried out. The depth and extent of burns should be assessed. Initial fluid resuscitation using the Parkland formula should be attempted within the first 24 hours post-burn. Adequate analgesia with paracetamol, non-steroidal anti-inflammatory drugs, opioids, or ketamine is usually required for pain control in burn patients. The decision to admit the child to the burns unit should be based on the potential cause of the burn, i.e. intentional or accidental, the depth of the burn and the extent of the burn.
Botulism is a neuromuscular paralysis secondary to a neurotoxin secreted from Clostridium Botulinum bacteria. It is a rare syndrome that results from food poisoning with the spore-forming Clostridium bacteria. The ingested food is contaminated with the pre-secreted botulinum toxin. Infant botulism occurs with the ingestion of the Clostridia spores that later germinate and colonize the intestine and secrete the neurotoxin. Other forms of botulism include wound botulism, where the toxin is secreted in infected wounds, inhalational botulism in biological wars, and iatrogenic botulism which occurs rarely in people using botulinum toxin for cosmetic purposes.
Heat has a relaxing effect on the muscles, improves blood circulation, has an analgesic effect and often has also an antiphlogistic effect—in the case of chronic, non-active inflammations. The muscle tone is decreased by warmth and persistent cold. Thermotherapy refers to the usage of different heating methods on the patient. But what exactly is “heat”? How does our body heat up, and how is heat transported?
The acquisition of scientific insight and the advancement of science requires an elementary understanding of the underlying basics of physics. Substances contained within the body that are transformed or converted by the body, calculations of the volumes and the understanding of simple, physical processes are requirements for being able to figure out the highly complex processes of the human body.
We never think consciously about motion. How many times have we said something like: "I’m not strong enough to lift it!" or partied so hard we didn’t have enough energy to study for a test? Mechanics Part 1 will help us understand all this from the physical point of view. We will see what can cause, for example, a disc prolapse and to which mechanical loads our bodies are subjected. Here you can proceed to Mechanics Part 2.
Blood is responsible for preventing the body from cooling down, while sweat prevents it from overheating. But how exactly does this work? Basic knowledge of thermodynamics is necessary in order to understand heat transfer, the functions of substance mixtures, and the relevance of different pressures inside the human body. What is a gas? What are the properties of different substances, and how can they be described? The following article deals with these basic principles of physics.
Electric current is dangerous for people and animals for various reasons. Fluids of the human body conduct electricity; almost all organs function with the help of electrical impulses coming from the brain. These impulses control our movements and organs with the power of about 50 mV.
The stability of energy balance and thermoregulation is essential for humans’ survival. Energy that is needed to fuel the body’s functions can be obtained from different energy sources. In this process, heat is generated and, in order to maintain the body temperature constant despite a strongly altering ambient temperature, a flexible regulatory system is required. In this context, the following definitions and formulas will be very useful for medical students.
Epileptic seizures can develop from the synchronous and paroxysmal activation of a group of neurons. There is high prevalence of a heterogeneous variety of epileptic syndromes in the population. A great number of people suffer from an epileptic seizure at least once in their lives, are worried, go to the emergency room, and seek for medical advice. It is therefore important for every physician to be familiar with the disorder and to know about treatment opportunities.
Optics is the science of light. Visible light is described as the electromagnetic wave in the sensitivity range of the human eye. Light in the frequency range of 4*1014 to 8*1014 Hz is visible to the human eye.
Radiation is the transfer and emission of energy in the form of waves and particles. When we speak of radiation, what is usually meant is ionizing radiation, exposure to which alters—and can kill—living body cells. Ionizing radiation is often used to kill pathogenic germs and in this way sterilize/disinfect sensitive equipment. However, as stated, it is very harmful to living cells, including the human body. Even so, with drastically reduced doses of radiation, ionizing radiation is used in radiation therapy for the treatment of cancer, e.g., in positron emission tomography. This article will equip you with exam relevant knowledge about ionizing radiation and radioactivity.
Both glycolysis and its parallel metabolic, the pentose phosphate pathway, start with the breakdown of glucose, i.e. glucose-6-phosphate. Divided into two distinct phases, the pentose phosphate pathway generates NADPH and pentoses, which can be used in other metabolic pathways. The pentose phosphate pathway is a small, but very important biochemical pathway physicians should be aware of, as, for instance, the metabolic disorder glucose-6-phosphate dehydrogenase deficiency (G6PD) may impart a distinct selective advantage against malaria.
With a morbidity rate of 2 - 3 %, psoriasis is one of the most common skin disorders in the Western world. It can be classified as one of the inflammatory, erythematous, hyperkeratotic skin diseases, which also include Reiter's dermatosis and the group of pityriasis dermatoses. Learn more about psoriasis and its forms, and about the other diseases mentioned above.
If a patient suffers from neurological symptoms, lots of differential diagnoses have to be considered. The following article is organized according to the different pathogens: bacteria, viruses, protozoa and fungi. Learn and repeat everything from the approach from acute bacterial meningitis to virally-triggered CNS infections with HSV, ESME, VZV and CMV, and to opportunistic infections in immunodeficient patients. This way, no neurological question in the second state examination concerning infectious diseases of the CNS remains unclear!
As an inflammatory disease of the interior heart lining, endocarditis mostly manifests in the area of the cardiac valves. In addition to that, an inflammation in the area of the atria or the ventricles is also possible. There can be both infectious and non-infectious causes. Mixed forms are possible as well. Rarely, endocardial-myocardial fibroses or medicament-induced cardiac valve changes occur.
In cases of child deaths, the differentiation between natural and unnatural death is essential. However, in some cases this differentiation is rather difficult as children tend to injure themselves and are often involved in accidents. Therefore, with every atypical injury to a child, abuse or neglect must be considered and a forensic specialist should be consulted if there is any doubt. This article will provide an overview of findings, risk factors and prevention of sudden infant death as well as typical signs of child abuse.
The term diabetic polyneuropathy is probably the one you will encounter most frequently during your medical studies. What are the most common causes of polyneuropathy? Which are hereditary, and which are acquired? How are they diagnosed and what types of therapy are available? The following article will provide you with answers to all of these questions. It has been prepared with the medical exam in mind and will not leave unanswered any questions regarding polyneuropathies.
The term current defines a directed flow of particles we also find in the blood of our body. In order to be able to measure blood flow, one needs electrical appliances that require electricity. The electric current is generated through an electric circuit over which charges are moved through potential differences. The movement of the potential differences also happens in the human body, for example in the sodium potassium ATPase.
Neuroblastoma is a peripheral tumor of the sympathetic nervous system. After brain tumors, it is the second most common malignant solid tumor in children. Since neuroblastoma can manifest with various symptoms, like ecchymosis of the eyelid or paraplegia, it is crucial to keep it in mind as a differential diagnosis and to be aware of clinical diagnostics and the basic treatment options.
Myocarditis is an inflammatory disease of the heart muscle, which mostly arises due to infections with cardiotropic viruses, especially infections with the coxsackie virus. The course of myocarditis, in contrast to endocarditis, is usually slower and less distinct.
In diagnostic sonography, the so-called Doppler effect is used for the determination of blood flow velocity. This is done by measuring the frequency of the sound reflected by detected blood cells. The sound is reflected by the blood cells. What exactly is sound, which vibration modes exist and how do they react on interfaces—all of this will be addressed in the following article.
Nucleotide metabolism results in the synthesis of the four nucleotides that form DNA. These are further divided in two categories: purines and pyrimidines. Their construction and degradation takes place in a progression of single steps, while different enzymes and cofactors are involved in the process. Beside degradation, there is also a form of reprocessing purine and pyrimidine nucleotides, defined as Salvage-pathways.
Aspiring medical professionals should know and differentiate between the various stroke symptoms of ischaemic stroke. Furthermore, they must be familiar with the basics of treatment to be able to respond effectively in an emergency. This article thoroughly and compactly presents the knowledge required for this, and is optimal both for preparing for the exam and clinical application.
Nephroblastoma is a type of cancer that mostly occurs in children. Slightly more girls suffer from it than boys. In some cases, it is followed by malformation syndromes. Usually, this dangerous kidney tumor is discovered incidentally during regular check-ups. It is considered a good example of curable malignancy and usually has a positive prognosis due to interdisciplinary treatments.
Approximately half of the world's population suffers from diarrhea at least once a year. Hence, besides influenza infections, diarrhea belongs to the most common illness symptoms. The causes of diarrhea are varied and range from infections with bacteria to tumor diseases. It is important to distinguish between acute, usually not requiring treatment, and chronic, or longer lasting, diarrhea, which can lead to death due to water and electrolyte loss, especially in weakened patients and children.
Vitiligo is a skin condition that is quite common. This is why you should be able to recognize it in clinical practice. Due to its association with other autoimmune disorders, vitiligo is also a frequently examined topic. This article explains the most relevant information for purposes of clinical practice and medical examination.
There are many disorders of the sebaceous glands. Acne is the most relevant condition in the field of dermatology that is tested in medical examinations. Acne vulgaris is also considered one of the most common skin diseases. The clinical picture of these conditions as well their treatment is covered in this article.
Geriatric rehabilitation affects nearly all areas of medicine. The number of seniors is increasing and treatment options for geriatric ailments are improving constantly. Therefore, aspiring physicians should keep up-to-date with current knowledge in this field. Read the geriatric facts relevant to your exams here.
The motor system of the brain consists of the pyramidal as well as the extrapyramidal tracts. Information from the motor cortex and other areas is led through these tracts to the respective muscle groups in order to initiate movement. The somatosensory information from the periphery is transmitted to the brain via the afferent sensory tracts. The constituting tracts are the anterolateral system (tractusspinothalamicus or spinothalamic tract), the dorsal column system and the posterior and anterior spinocerebellar tract (tractusspinocerebellaris)
Appendicitis is a common and serious gastrointestinal disease that affects many people every year. It can be very acute and painful and, if it is not treated quickly, it can be fatal. We will explore the mechanics behind appendicitis; the causes, treatments and complications that can arise. Appendicitis is commonly examined as it is fairly prevalent, acute and can be very serious.
Many people have heard of the seven-year itch, but what is it actually? You know the parasitic disease under the medical term scabies. CAVE: In 25%, scabies are initially misdiagnosed! The cause of the severe itching is Sarcoptes scabiei – the itch mite. In the following article, you can read what every physician should know about the pathophysiology, diagnosis and treatment.
Acute abdomen is considered an emergency that characterized by sudden and severely tender abdominal pain. It is usually associated with life-threatening medical conditions that prompt urgent diagnosis and management. Differential diagnoses should be ruled out with physical examination, laboratory tests, and different imaging modalities. Management is based on the underlying etiology through either medical treatment or surgical intervention.
Harbingers of summer, the first rays of sun are tempting us to go outside. Temperatures are still moderate but with a rising thermometer value, one should keep in mind the dangers that result from heat exposure over a long time. Thermic emergencies are often underestimated; however, they can be lethal. Burns and electric shocks also damage the tissue through heat. Learn more about these three types of thermic injury and how to act in case of an emergency.
Neoplasms of the skin can be hard to differentiate clinically, but nevertheless they can result in entirely different consequences. While the colloquially called “white skin cancer” describes rather harmless changes of the skin, the “black skin” cancer is feared. As other doctors from different specialties, other than dermatologist, are also consulted when discussing diagnostic findings of their patients’ skins, it pays off to know the most common types of skin cancer.
The typical situation of an anaphylactic emergency: as an emergency physician you are called to a child who was stung by a wasp while playing in a swimming pool. When you arrive, the little patient is barely conscious, the skin is red and covered with welts. The carotid pulse is barely palpable. The connected ECG shows a tachycardia of 180/min. In addition, you recognize a strong wheezing and humming in all lung sections. The diagnosis of anaphylactic shock is made quickly. But how do you react properly in this situation? And what are the causes of this disease? Answers can be found here.
Down Syndrome, or trisomy 21, is not only the most common chromosomal aberration, but also the most frequent genetic cause of mental retardation. Nowadays, it is possible to assess the risk of having a child with Down syndrome via cytogenetic examination and to discuss the matter in detail with the respective families. Learn more about the epidemiology, clinical picture and diagnostics of Down syndrome and discover its most important treatment options.
Bacterial infection is the most common cause of pyelonephritis. Acute complicated pyelonephritis is an acute emergency and needs immediate treatment with intravenous antibiotics. Infection in acute pyelonephritis is usually due to ascending infection, or due to hematogenous infection. The presence of recurrent infections, usually due to structural and functional anomalies in the genitourinary tract is the hallmark of chronic pyelonephritis. Clinical features include fever and abdominal flank pain with or without symptoms of cystitis. WBC casts are the characteristic findings seen in the urine analysis. Fluoroquinolones and cephalosporins are the mainstay in the treatment of pyelonephritis. Prognosis is excellent in uncomplicated pyelonephritis, while it is poor in emphysematous pyelonephritis.
Chromosomes are the cellular carriers of genes and are the functional unit of heredity. First described by Mendel in 1865, each gene can exist in an array of different forms called alleles. Hereditary traits are passed to offspring through alleles each given by the parents. The distribution of homologous chromosomes during meiosis, of which one of each pair is randomly chosen, is conveyed to each haploid cell. Genes are passed to the offspring, and each time that the genome is replicated, transcribed, and translated, proteins that reflect the combination of hereditary traits is reflected in the phenotype.
Genomics is the study of what the genome does. In this article, we include the topics of distinguishing between genetic and physical maps, describing the process of DNA sequencing and characterizing two different methods for sequencing genomes— the clone-by-clone vs. shotgun sequencing.
The vertebral artery (VA) arises from the first part of the subclavian artery and ascends in the neck to supply the posterior fossa and occipital lobes. It also provides segmental vertebral and spinal column blood supply. The vertebral artery is normally 3-5 mm in diameter. Ostium is the most common site of stenosis.
In this article, we will study the important pharmacological aspects of anticholinergic drugs such as classification, pharmacokinetics, mechanism of action, important actions on various organ systems, clinical uses, drug interactions, adverse effects and toxicity.
The balance established between acidity and alkalinity of the blood is termed as Acid-base Balance. Acid base balance is determined by the pH of the blood. The levels of H+ and OH- ions decide the pH level of the blood. Acid –base balance is maintained by different mechanisms happening in lungs, kidneys and buffer systems. A human body’s normal pH ranges from 7.35-7.45. pH and hydrogen ions concentration have an inverse relationship with each other. Minor deviations of this balance may result in severe affections of brain, arteries, heart, muscle and other organs.
Inhalation of Beryllium (Be) dust, or its vapors or compounds, or subcutaneous implantation of Beryllium can lead to either acute or chronic beryllium disease, also known as berylliosis. It can affect genetically susceptible individuals or workers exposed to the fumes or vapors of the metal. It was first described by Hardy and Tabershaw in 1946. Beryllium can cause either an immediate acute form of illness or insidious chronic berylliosis.
A number of malignant disorders of the blood are characterized by abnormal and uncontrolled growth of certain blood cell types that are associated with prolonged survival even after the establishment of the diagnosis. Myeloproliferative diseases are a collection of disorders of the blood cell lines that are characterized by elevated platelets, white blood cells or red blood cells in the peripheral blood. The myelodysplastic syndromes are quite the opposite as they are characterized by the inability of the bone marrow to produce the normal and different blood cells; hence, can be also defined as bone marrow failure disorders. Myeloma, on the other hand, is a malignant condition of the plasma cells that is characterized by uncontrolled activation, proliferation and the production of abnormal antibodies.
Cutaneous squamous cell carcinoma represents one of the most common malignancies in humans. The malignant tumour arises from suprabasal epidermal keratinocytes that invade the dermis and together with basal cell carcinoma, forms the most common malignancies of skin to affect humans. But unlike basal cell carcinoma that is thought to arise de novo, this non-melanoma skin cancer is thought to evolve from precursor lesions of actinic keratosis (AK) and Bowen’s disease. The clinical appearance is highly variable but a strong suspicion must be kept in mind if a non-healing lesion presents, specially on sun exposed areas. Histopathological evidence helps in establishing the diagnosis. While a multitude of treatment options are available, prevention in patients with predispositions should attract more attention.
Plantar warts are hyper-keratinized skin lesions that are found on the planter surfaces of the feet and hands. They are caused by the human papillomavirus and are usually painless. Despite being painless, they can cause embarrassment to the patient and can interfere with normal daily functions such as walking when they are found in the plantar surface of the feet. Treatment can either be ignorance of the warts, topical non-specific therapy or destruction of the epidermal cell layer by chemical or physical agents.
Tinea infections are caused by different fungi species that are known to infest the skin, nails and hair. The infections can be classified according to the affected site into Tinea corporis, Tinea pedis and Tinea capitis. Tinea corporis and Tinea pedis can be easily diagnosed clinically and patients should receive topical anti-fungal therapy once the diagnosis is confirmed. Patients with Tinea capitis should receive combined topical and systemic anti-fungal therapy. Patients with Tinea nail infections should undergo a confirmatory test, such as potassium hydroxide preparation or culture, before initiating therapy.
This article provides a brief overview of neurotrauma, its classification and differential diagnosis, diagnosis and management. Neurotrauma is a common presentation in emergency departments across the world and is often an emergency situation. Patients who are not diagnosed and treated promptly can quickly succumb to comas and often irreversible damage or death. As such, a familiarity with each clinical diagnosis is needed and this article should provide the basis for that. We look at traumatic brain injuries (causing concussions, contusions and diffuse axonal injuries) along with bleed disorders like epidural hematomas, intraparenchymal hemorrhage, subdural and subarachnoid hemorrhages. A basic definition, pathophysiology and etiology is provided for each.
Disorders of neuromuscular origin can be caused by muscular diseases, neuromuscular junction or their neurological supply. Neurological disorders can be in the peripheral nerves, motor cells in the spinal cord, motor tracts in the spinal cord, brain stem nuclei, tracts and cerebral cortex.
Developmental milestones are the functioning skills or acts which most children can perform when they reach a certain age. The pediatrician uses these milestones to check the development of a child at different stages. Each milestone determines an age. However, the actual development stage of the child can vary based on the fact that children are not identical. There are four major types of developments in each milestone, namely motor, sensory, communication and feeding.
Gestational diabetes is one of the most common diseases associated with pregnancy. Some of the risk factors are overweight and a prior record of diabetes within the family. You will learn everything from the definition to the diagnosis of and to therapy for gestational diabetes here.
APGAR score is a standard tool for the assessment of newborn babies. APGAR is an acronym for Appearance, Pulse, Grimace, Activity, Respiration. It is a short test performed at 1 and 5 minutes after the baby’s birth that is done to determine the need for breathing aid and any heart trouble the newborn might be experiencing.
In the early phases of extrauterine life, the human body goes through various circulatory, thermoregulatory, renal, pulmonary, immune and metabolic adaptations to achieve proper function outside the protective environment of the womb. The process of birth lays significant challenges for the newborn.
A synonym of infectious mononucleosis is the "kissing disease“. This term contains also the main method of transmission of Pfeiffer’s glandular fever: the kissing. Nearly all people will get infected with the responsible Epstein-Barr virus in the course of their lives. Read the following article for the pathogenesis, symptomatology, diagnosis and treatment of infectious mononucleosis.
Locked-in patients are not restricted in their higher neuronal functions when locked into a body that has become incapable of movement. While the former had to face miserable living circumstances and were moved to nursing homes, they can now be re-integrated into life with sophisticated therapies and techniques.
Marfan syndrome is caused by a disturbed production of microfibrils and leads to problems in connective tissue. It involves primarily the cardiovascular system, causing aortic dilatation and dissection. In the following sections, this article will be presenting you a well-structured and concise information on the Marfan syndrome.
Lichen simplex chronicus (LSC), also known as localized neurodermatitis, is a skin disorder characterized by the thickening of the skin (lichenification) due to excessive scratching. This is frequently due to an itch–scratch cycle that can develop due to various skin or psychogenic causes. The common sites are the ends of extremities, genitals and neck, and the symptoms can vary in severity. Stopping the scratching is crucial, and treatment (often with topical steroid cream/ointment) can be lifelong if the disease is recurrent.
Atrial septal defect and patent foramen ovale, represent diverse congenital heart diseases with the common denominator being a defect of a closure of atrial septum. Embryologic development of atrial septum is essential in order to understand anatomic, pathophysiologic and clinical presentation of ASD that presents as asymptomatic, usually in children, to symptomatic forms that are mainly found in adults with long-term complications such as atrial arrhythmias, pulmonary hypertension, and heart failure. Clinically symptomatic patients present with fatigue, dyspnea, exercise intolerance and atrial arrhythmias. Management options, when needed, include defect closure either by transcatheter device closure or open surgery procedure.
Ventricular Septal Defect (VSD) is a heart condition that is prevalent in children, where the walls of the heart chambers do not close properly, leaving a hole anywhere in the ventricular septum. This leads to a variety of symptoms such as breathlessness and getting tired easily among others. VSD can be detected by a Physician with auscultation for specific signs specific to it. This diagnosis can be confirmed with electrocardiography, echocardiography, chest x-rays, MRI and cardiac catheterization. It can be managed conservatively, especially if the defect is very small, with larger holes requiring surgical interventions. New innovations such as catheter closure are reducing the risk involved with surgical interventions.
Genital herpes is caused by either herpes simplex virus type 2 (70% of the cases) or herpes simplex virus type 1 (30% of the cases). The patient can present with primary disease characterized by severe genital vesicles that are fluid-filled, or recurrent milder disease of dermatomal vesicular and ulcerative disease. Affected individuals can also be asymptomatic. Treatment of primary and recurrent genital herpes consists of acyclovir or valacyclovir for one week. Suppressive antiviral therapy is indicated in patients with frequent recurrent genital herpes.
Viral hepatitis can be caused by different kinds of viruses which include hepatitis A, B, C, D, and E. These viruses cause targeted inflammation of the liver. In the acute stage, patients develop non-specific symptoms, such as nausea, vomiting, anorexia and abdominal pain. Later on, jaundice becomes evident. During this stage, supportive therapy is important. Antiviral therapy is indicated in the acute and chronic stages of hepatitis B and C.
Acute cystitis is defined as the acute infectious inflammation of the urinary bladder. Uncomplicated acute cystitis means that the patient does not have any structural abnormalities and is not immunocompromised. Patients usually present with dysuria, urinary urgency, urinary frequency and suprapubic pain/tenderness. Urine analysis usually reveals pyuria. Trimethoprim-sulfamethoxazole is the treatment of choice for uncomplicated cases, while ciprofloxacin should be preserved for complicated cases.
Enteric fever is caused by the Salmonella typhi species. Affected individuals present with high-grade fever that is cyclic, abdominal pain, headaches and constipation. Recent travel history to endemic areas is usually positive in most cases. The clinical picture should be enough to start empirical antibiotic therapy with ceftriaxone and ciprofloxacin. Once culture and sensitivity results are available, the patient should be switched to a more specific narrow-spectrum antibiotic.
Acute otitis media is the acute inflammation of the middle ear due to viral or bacterial infections. The condition is common in young children aged 6 to 18 months. Patients present with fever, upper respiratory tract infection symptoms and ear pain. Treatment consists mainly of broad-spectrum antibiotic therapy. Cases that are unresponsive to antibiotic therapy need tympanocentesis to sample the middle ear effusion and perform a culture and sensitivity test.
Hemolytic uremic syndrome is a complication of different infectious etiologies or can happen as a consequence to certain chemotherapeutics or pregnancy. Patients develop acute renal failure, hypertension and thrombotic microangiopathic hemolytic anemia. Diagnostic workup should include kidney function tests, in addition to the confirmation of the presence of E. coli shiga-toxin producing species in stool if possible. Treatment is mainly supportive, but if antibiotics are to be used, azithromycin is the first-line therapy.
Donovanosis is a sexually transmitted disease that is caused by Klebsiella granulomatis. These are intracellular organisms that form inclusion bodies inside macrophages known as Donovan bodies. The disease is characterized by four different stages. First, nodular lesions develop, which then ulcerate. Plaques form in the third stage and hypertrophic lesions that look like genital warts are seen in the fourth stage. Treatment of donovanosis is azithromycin given for at least three weeks.
Dysentery can be caused by either bacterial pathogens such as shigella, salmonella or campylobacter, or by the protozoan Entamoeba histolytica. The usual presenting feature is that of bloody diarrhea, associated with fever and being toxic. Children are at risk of developing certain complications such as seizures, toxic mega-colon or intestinal perforation. Patients presenting with dysentery should undergo a stool analysis and culture testing to identify the causative organism. Empirical therapy with azithromycin is usually sufficient.
Urethritis is a sexually transmitted disease that can be either gonococcal or non-gonococcal in etiology. Possible non-gonococcal pathogens include chlamydia, mycoplasma and ureaplasma species. The diagnosis is based on the identification of urethral discharge by physical examination and the finding of more than 5 white blood cells per oil immersion microscopic field on the urethral smear. Treatment should cover both gonococcal and non-gonococcal etiologies. Ceftriaxone combined with azithromycin is an excellent choice.
Plexopathy is a peripheral neuropathy at the level of the brachial or lumbosacral plexuses leading to sensory, motor or sometimes autonomic deficits. The etiology for this pathology vary from compression, inflammation, or ischemia to radiation.
During early stages of normal labor, the occiput of the fetal vertex presents laterally in relation to the maternal pelvis and then anteriorly during the advanced stage of labor. Fetal malpresentation is defined as all fetal presentations, other than vertex presentation e.g. breech, face, brow, transverse lie and compound presentation. It is one of the commonest reasons for cesarean deliveries. It is important to follow obstetric principles when managing fetal malpresentations. Most of these presentations of malpresentation undergo a scheduled cesarean delivery to prevent fetal morbidity and mortality, as well as to avoid potential medicolegal issues.
A nevus is a condition which occurs due to the increase in the number of melanocytes. The occurrence of the melanocytes can be both congenital, as well as acquired, and the melanin pigmentation can also be hypo- or hyper-pigmentation. The atypical mole differs from the benign nevus by the irregularity of shape, as well as an increase in size and number. The biopsy is required for diagnosis in doubtful cases and in which the confirmation is required. The treatment varies from observation (in the majority of cases) to medical (chemical peels using beta-hydroxy and retinoic acid) and, lastly, surgical treatment for the removal of the nevus.
Seborrhoeic dermatitis is a common chronic papulosquamous dermatosis with distinct infantile and adult forms, easily recognised clinically. Owing to its frequent recurrence in patients with HIV and AIDS, a careful evaluation of this pathology is warranted. The disease varies from mild to severe exhibiting a variety of forms including psoriasiform, pityriasiform and erythroderma.
Ranking the common causes of death among different age groups can be a useful tool in finding out the options to reduce cause-specific morbidity and mortality rates. It should be kept in mind that rankings, however, do not illustrate the mortality risk. The ranking of a specific cause as a reason for frequent deaths may change over time, even if the mortality rates have not changed. Similarly, ranking of a specific cause may remain the same, even though the mortality rate declines; therefore, it is not intelligible to conclude the mortality risk from the rankings of mortality rates.
Fetal hemolytic disease (FHD), also known as hemolytic disease of the newborn (HDFN) or Erythroblastosis fetalis, is a hematologic disorder in a fetus or in a neonate. It can cause rapid lysis of the erythrocytes (RBCs) leading to progressive increase in serum bilirubin levels. FHD can be life-threatening unless diagnosed and treated promptly.
Leukemias are considered as the most common form of malignant disorders in children. Acute lymphoblastic leukemia is responsible for approximately 70% of the cases of leukemia in children, while acute myeloid leukemia account for 30% of the cases. Patients with leukemia can present with symptoms related to the loss of normal functioning cells such as anemia, bleeding disorders, and infections, or symptoms related to the expansion of the leukemic cells and metastasis. Cytogenetic and molecular testing is essential as it can have an impact on the treatment and prognosis of the patient. Intensive combination chemotherapy is usually needed for the induction therapy, followed by consolidation therapy with or without stem cell transplantation. Patients with the Philadelphia chromosome should be administered a tyrosine kinase inhibitor and the option for stem cell transplantation.
Fever in children is the most common presenting feature to the pediatric emergency department. If the infant with fever appears well, a careful systematic approach is advised in order for us to not miss any serious bacterial etiology. Neonates with fever might have a serious bacterial infection, such as urinary tract infections or bacterial meningitis, despite appearing well; therefore, a full diagnostic workup, including a lumbar puncture, is indicated. Older infants who present with a fever should be examined by an experienced emergency pediatrician and they usually do not need to undergo a lumbar puncture routinely.
Toxic shock syndrome can be caused by staphylococcus aureus or group A streptococcus in children. Non-menstrual and menstrual toxic shock syndrome have similar incidence in the general population nowadays due to the increased awareness and recent changes to the composition of tampons. Clinical assessment looking for fever, symptoms suggestive of multi-system dysfunction, and a desquamative rash and supported by evidence of acute renal injury and hepatic injury is diagnostic of toxic shock syndrome. Antibiotic therapy is indicated.
Urinary tract infections are very common in children, especially those presenting to the emergency department with fever. The diagnosis is usually made based on urinalysis confirmation of the condition in young children presenting with fever, or on the presence of bacteriuria in children old enough to present with urinary tract infection symptoms such as dysuria. Antibiotic therapy is indicated for the treatment of urinary tract infections in children.
Fever in a child, defined as a rectal temperature > 38° C, is the most common presentation of children to the healthcare provider. The cause of fever can be infectious, malignant disease, collagen disorders or unknown. Infectious etiologies are different according to the child's age and empirical therapy can be based on the child's age and the presence of other associated symptoms. Determination of the cause of the fever, deciding whether the child needs inpatient or outpatient care, and the re-evaluation of the child are the main three steps in the systemic approach to the febrile child.
Pertussis is a bacterial infection caused by Bordetella pertussis. Patients present with a paroxysmal whooping cough, that is persistent for two weeks or more. Polymerase chain reaction for detection of the organism's DNA or culture and sensitivity testing are indicated for the confirmation of the diagnosis. Serologic testing is also helpful, especially in patients who present late to the health-care provider but its implementation in clinical practice is still underdevelopment. Antibiotic therapy, with azithromycin, is the main treatment for pertussis.
Malaria in children remains a common condition in endemic areas in Africa, Asia and South America. The condition is very rare in the United States unless there is a recent travel history to one of the 108 endemic countries. Patients present with fever, headache, anemia and other non-specific symptoms. Microscopic confirmation of the diagnosis is useful and is usually adequate and accurate. DNA amplification techniques are being developed to make the diagnosis easier and faster in emergency situations. Combination therapy of an artemisinin and another slow-acting antimalarial drug is indicated for the treatment of malaria in children.
Scarlet fever and rheumatic fever are two possible complications of streptococcus pyogenes induced pharyngitis. Scarlet fever usually presents with a characteristic rash during the pharyngitis illness itself. Rheumatic fever presents with arthritis, carditis, skin rash, and fever a couple of weeks after a bout of streptococcal pharyngitis. Throat swab cultures are useful in the confirmation of the diagnosis of scarlet fever. Erythrocyte sedimentation rate and c-reactive proteins are usually elevated in rheumatic fever. Antibiotic treatment with penicillin, or first generation cephalosporin is indicated in both conditions. Aspirin administration is essential in rheumatic fever.
Septic arthritis is the bacterial infection of the synovial membrane and fluid in joints. The condition is more common in children. Nowadays, the most common causative organism is staphylococcus aureus. Children usually present with severe pain, tenderness, warmth, swelling and erythema of the affected joint. Fever is a common finding but is usually low-grade. Synovial fluid aspiration and examination is helpful in establishing the diagnosis. Antibiotic therapy is indicated and is usually started with parenteral dosage forms before being switched to oral route.
Cervical lymphadenitis is a common condition in children that can be caused by staphylococcus, streptococcus, or other bacterial etiologies. Viral cervical lymphadenitis is also common but is usually less painful. Laboratory investigations are not needed to confirm the diagnosis but can provide supportive evidence about the primary focus of the infection. Treatment of bacterial cervical lymphadenitis is mainly antibiotic therapy with clindamycin or an anti-staph antibiotic.
Antenatal care plays a vital role in the good health of a pregnant woman and her yet-to-be-born baby. According to the World Health Organization, the goal of antenatal care is to prepare the pregnant woman for childbirth and prevent, diagnose, alleviate and treat health problems arising during the pregnancy. Good antenatal care helps to reduce maternal and neonatal mortality as well as morbidity rates.
Atopic dermatitis is a common, chronic dermatological disorder of unknown origin characterized by intense itching and eczematous lesions. In this chapter, after an introduction to general terminology for skin lesions, epidemiology, clinical features, diagnosis and management of atopic dermatitis are briefly discussed. As the diagnosis is purely clinical, differentiation from alternative diagnoses is also important. Emollients, topical corticosteroids and trigger avoidance constitute the mainstay of management.
Morphea or localized scleroderma is a rare disorder with characteristic clinical features. The treatment of this disease involves the use of long-term immunomodulators. In this article, we will learn about the clinical features including the different types of morphea, pathophysiology, laboratory diagnosis, treatment using different modalities, and the prognosis of morphea.
Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neuro-developmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management of the same.
Angelman syndrome (AS) is an infrequent, unusual autosomal neuro-developmental disease resulting from epigenetic sex-specific genomic imprinting and uniparental disomy of paternal chromosome 15 with a simultaneous functional loss of the maternal part 15q11-q13. With a focus on clinical, diagnostic and management aspects, this article encompasses a detailed discussion on the genetic mechanisms involved in AS.
Pemphigus vulgaris (PV) is a rare, chronic, autoimmune, intraepithelial disease characterized by blister formation involving skin and mucous membrane. PV is caused by autoantibodies, which are directed against target antigens present on the cell surface of keratinocytes.
In this article, epidemiology, pathophysiology, sign and symptoms, differential diagnosis, diagnosis, prognosis and treatment of PV will be discussed.
Amongst all autoimmune blistering diseases, bullous pemphigoid is the most common one. Circulating antibodies are produced against the proteins present in the dermoepidermal junction (DEJ). In this article, we will study the epidemiology, pathophysiology, diagnosis, differential diagnosis, therapy and prognosis of bullous pemphigoid.
Bacterial meningitis is a medical emergency that is represented by inflammation of the leptomeninges due to a bacterialinfectious etiology. The most common incriminatedbacterial pathogens include streptococci and haemophilus influenzae. Infants present with non-specific symptoms such as fever, vomiting, poor-feeding, irritability, or lethargy. Older children present with fever, vomiting, photophobia, and positive Kerning’s or Brudzinski signs. While cerebrospinal fluid examination is essential to confirm the diagnosis, antibiotic therapy should be started, based on suspicion alone, and should not be delayed.
Community-acquired pneumonia in children is a common condition that can be caused by viral or bacterial organisms. The most common bacterial organisms include streptococcus pneumoniae, mycoplasma pneumoniae and chlamydia pneumoniae. Patients usually present with cough and tachypnea, which might be associated with fever, especially in bacterial cases. The main diagnostic tool is a chest X-ray. Empirical antibiotic treatment is usually sufficient in the majority of the cases. The choice of antibiotics is based on the child’s age, which has an impact on the most likely causative organism.
This article runs through the common presentations, pathophysiology, differential diagnoses and common therapies for mononeuropathies. It looks in detail at a number of common nerve injuries, including radial nerve, ulnar nerve, brachial plexus, phrenic nerve, common peroneal nerve and the femoral nerve. It covers common examination findings in order to make an accurate and specific diagnosis.
Allergic contact dermatitis is a delayed cell-medicated immune reaction from exposure to contact allergens. The substances that trigger ACD can be nickel, poison ivy and fragrances. ACD of acute onset usually represent erythema, pruritic vesicles and bulla whereas lichen with cracks and fissures are seen in chronic cases. Symptoms usually disappear with avoidance of known causative substance. Localized application of mid or high potency topical steroids like triamcinolone and clobetasol relives the acute ACD. Systemic steroid therapy is required in long standing and relapsing ACD. Patch testing is recommended if treatment fails.
Ichthyosis vulgaris is a skin disease in which patients present with a scaly skin. Though there is no perfect cure for this disease, many therapies have been used successfully to limit the disease. In this article, we will study the etiology, pathophysiology, clinical features, diagnostic techniques and the common treatment modalities for this condition.
The primary pathophysiology of lichen planus is CD8 cell-mediated damage to keratinocytes. Lichen planus can be found in various sites on the body. Topical steroids remain the mainstay of the treatment, but there are many others medications (e.g., retinoids) and therapies (e.g., UV-B) that have been tried. In this article, we will study the etiology, pathophysiology, clinical features, diagnostic techniques and the common treatment modalities for this condition.
Angioedema refers to swelling involving skin, mucosa, and subcutaneous tissues. It may be an isolated symptom or may be a manifestation of an underlying disorder. Etiology of angioedema with urticaria and angioedema without urticaria differs significantly and clinical presentation guides further investigations. In this article, etiology, pathophysiology, clinical features, diagnosis, differential diagnosis, and management of angioedema are described.
Abdominal and Pelvic traumas is characterized by disturbance or penetration of abdominal wall and its contents by blunt or gunshot injuries. The signs and symptoms depends on the type injury impacted on the abdomen with or without penetration of the weapon, the range of injury, organs that are traumatized and the position and quantity of wounds formed. After physical examination of the injuries with survey of the vital signs, level of consciousness, loss of blood, immediate surgical intervention becomes necessary to stabilize the patient.
This article looks at spinal cord pathologies. It runs through various conditions including spinal cord compression, syringomyelia, anterior spinal artery occlusion, multiple sclerosis, amyotrophic lateral sclerosis and B12 deficiency.
Fetal growth restriction (FGR) or intrauterine growth restriction (IUGR) is a condition in which the fetus is unable to achieve an ideal weight and growth commensurate with the gestational age. It is caused by uteroplacental insufficiency of oxygen and nutrients that result in serious fetal perinatal morbidity and mortality. It is important to detect FGR and then monitor the fetal growth during the antenatal period so that a prompt delivery can be carried out in the case of fetal distress.
While short stature only affects 2.5% of the population, it is a common reason for referral to a pediatric endocrinologist. Short stature is defined as a child being in the 3% for growth on a growth chart with normal growth velocity. Bone age is often used to assess children with short stature. Growth hormone injections are an expensive therapy that can mildly increase a child’s adult height.
All women during pregnancy have an increased demand for a nutrient supply. When the nutrient intake is compromised, the body uses the stored nutrients, and that makes a pregnant woman weak. Energy demands are the highest in the third trimester of pregnancy. Certain nutrient deficiencies are associated with congenital disabilities and other complications. The increase in energy requirements is due to increase in body weight of a pregnant woman, the energy needs of the fetus, and physiological changes occurring in the events of pregnancy. There is about 20 percent increase in caloric needs, 50 percent increase in micronutrients, and an additional 350-450 calories are required during 2nd and 3rd trimester. Energy requirements increase up to 12 percent and BMR increases on an average of 10-15 percent.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an x-linked recessive disorder that is characterized by intravascular hemolysis induced by oxidative stress. Children with this disorder are usually asymptomatic until they are exposed to a possible trigger of hemolysis, such as an infectious illness, certain drugs or the ingestion of fava beans. The hemolysis is usually mild and the management plan should focus on the prevention of future episodes of hemolysis, rather than the treatment of the current episode.
Thalassemias are a group of inherited disorders that are characterized by decreased production of the alpha or beta globin chains. The amount of the produced normal hemoglobin within the red blood cells correlates with the severity of the symptoms. Fetuses with alpha-thalassemia major usually die. Children with beta-thalassemia major are usually dependent on repeated blood transfusions. Splenectomy is the only therapeutic option that is known to result in improvement of symptoms and severity of the anemia in children with major thalassemia. Bone marrow transplantation is becoming a possible curative option for selected patients with beta-thalassemia major.
Sickle cell disease is a genetic blood disease that is characterized by abnormal hemoglobin that can undergo polymerization in certain conditions, such as hypoxia, acidosis or dehydration. This process of polymerization is responsible for the distortion of the red blood cell shape and the hemolysis of red blood cells. Children can present with symptoms and signs suggestive of chronic hemolytic anemia, acute splenic sequestration syndrome, acute vaso-occlusive syndromes, acute chest syndrome, or proliferative sickle retinopathy. The diagnosis of sickle cell disease is usually made at time of birth in the United States because of the mandatory testing for sickle cell disease in all newborns in the United States. Prevention of acute chest pain syndrome, the management of the different sickle cell disease clinical sequalae, and the prevention of infectious complications are the mainstay treatment approaches for the condition in children.
Nerve cell, skeletal muscle cell, as well as myocardial muscle cell excitability, are influenced by serum potassium levels, and elevated serum potassium levels (hyperkalemia) reduce the electrical potential of these cells leading to cardiac arrhythmias and cardiac arrest. Anesthetic drugs, like succinylcholine, can precipitate hyperkalemia in susceptible patients. As the treatment for hyperkalemia does not follow ACLS guidelines for asystole, it is important to detect the condition early and restore normal sinus rhythm to prevent fatal outcomes.
Lipids are organic molecules that are composed of the elements carbon, hydrogen and oxygen, with the hydrogen to oxygen ratio greater than 2:1. They are highly hydrophobic because of having a long hydrocarbon chain. This family of compound includes fats, waxes, steroids and phospholipids. This article focuses more on the metabolic processes involved in processing fats and fatty acids.
Skin and soft tissue infections include impetigo, skin abscesses, acne, carbuncles and staph-scalded skin syndrome. Necrotizing fasciitis is a more severe form of soft tissue infections that is usually caused by streptococcus pyogenes, but can also be polymicrobial. Staphylococcus aureus is more commonly associated with abscesses and purulent skin infections. Genital and non-genital warts caused by the human papillomavirus are becoming more commonly seen in children. Molluscum contagiosum is a common viral skin infection of young children. Antibiotic therapy is indicated for bacterial soft tissue infections, while cryotherapy and other lesional destructive therapy are usually used for viral skin and soft tissue infections.
Preconception care is medical care focusing on the health of women (and men) of child-bearing age before pregnancy. The goal is to address medical conditions and substance use that could negatively impact the pregnancy or baby. By having these under control before the pregnancy itself, preconception care increases the chances for an uneventful pregnancy and a healthy baby.
Headache is one of the most common symptoms in the emergency department and outpatient clinics. It can be a sign for serious illness that needs immediate action to prevent fatal consequences e.g. subarachnoid hemorrhage, meningitis and temporal arteritis. Headache also can be a sign of chronic physical and mental illnesses. Careful history taking and physical examination should be performed to any patient complaining of headache for proper diagnosis and management.
Obstructive sleep apnea (OSA) is defined as episodic apnea, or cessation of breathing, during sleep, in which the period of apnea should last for more than 10 seconds. It is usually due to partial or complete collapse of the upper airway and is associated with snoring, restlessness, daytime headache and somnolence. The diagnosis relies on history and requires polysomnography for confirmation. Several medical as well as surgical treatment modalities are currently recommended and essential to prevent complications.
There have been remarkable improvements in the drugs, techniques and anesthesia machines being used. As a result anesthesia is a safer procedure today. The safety features were gradually incorporated into the anesthesia machine over the years following problems and mishaps. Although several safety measures have been introduced in the anesthesia machine, the anesthesia provider bears the responsibility for checking the machine prior to use and for its safe deployment.
Membranes serve different functions in a cell. They are responsible for keeping unwanted particles out of the cell while letting important macromolecules enter the cell. They are also important in partitioning the cell into segregated and functional compartments. Given emphasis in this article is the fluid mosaic model for cellular membranes, the different proteins embedded in the membranes and the different roles they play in cell activity. Cytoskeleton and extracellular matrix are also discussed in this article.
Coccidiomycosis is a fungal infection caused by Coccidioides immitis and Coccidioides posadasii. The two organisms are genetically different but phenotypically identical. The clinical symptoms produced by these two species and the immunological response of the body are similar.
Mycosis is a fungal infection, affecting all animals, including human beings. It is subacute or chronic infection caused by saprophytic dimorphic fungus sporothrixschenckii. In addition to the pathophysiological state of the body, the environmental factors are equally contributing to the development of mycosis. The fungal infection usually begins either with the inhalation of the spores or through direct cutaneous invasion of the organism.
Seizures are the result of abnormal electrical activity in the brain, which can be either stimulatory or inhibitory. The abnormal activity consists of repeated consistent discharges that can lead to motor, sensory, autonomic or behavioral dysfunction.
Patients presenting with symptoms related to the respiratory system can be challenging to the physician as a number of diseases can overlap in the semiology. For instance, asthma, chronic obstructive lung disease, interstitial lung disease and inflammatory lung disease can all present with dyspnea. The main differentiating factors between these disorders are the epidemiological and demographic profiles of the patients. Therefore, age, gender, race and country of origin can all point towards a possible diagnosis. Additionally, certain epidemiological risk factors can help narrow down the differential diagnosis, which include occupational exposure and smoking history for instance. Moreover, a detail history and physical examination can help exclude a number of differential diagnoses in the patient without needing any advanced diagnostic testing or imaging modalities.
Upper respiratory tract infections (URIs) include a group of illnesses that can be mild to life-threatening where the upper respiratory tract is the main affected part. The infecting organism can affect the sinuses, the nasal passages, the pharynx or the larynx. Several diseases can be put under the umbrella of URIs which include rhinitis, pharyngitis, sinusitis, epiglottitis, laryngitis and tracheitis.
Patients with interstitial lung disease usually present with progressive exertional dyspnea, cough and hypoxemia. Computed tomography imaging of the lungs can reveal fibrosis or granulomatous disease. Symptomatic treatment with oxygen supplementation might be needed but specific treatment should also be tried because some conditions are known to respond to medical therapy. Lung transplantation should be available as an option for patients who do not respond to medical therapy.
Pneumoconiosis is an occupational lung disease that is related to coal dust exposure. Macrophages and fibroblasts become activated and focal lung fibrosis occurs. If left untreated, patients can progress to massive lung fibrosis which carries high mortality. History taking and chest x-rays are the mainstay diagnostic tests to confirm and stage pneumoconiosis. Current treatment of pneumoconiosis is mainly symptomatic. Lung transplantation might be an option for patients with advanced pneumoconiosis.
Hemoptysis can be defined as the expectoration of blood during coughing that originates from the lower respiratory tract. Per this definition, coughing of blood from an upper respiratory tract illness can be excluded. While coughing blood can be alarming to the patient, it is usually a self-limiting symptom. In clinical practice, only 5% of the patients who present with hemoptysis are found to have a serious medical condition that needs further treatment.