Items tagged “re-write”

127 results found
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Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy (HMSN), is the most commonly inherited neuropathy of lower motor (to a lesser degree sensory) neurons. Epidemiology The prevalence of CMT in one Norwegian study was 82.3 cases per 100,000 people 4.  Clini...
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Cystic fibrosis

Cystic fibrosis (CF), also called mucoviscidosis, is an autosomal recessive genetic disease that affects the exocrine function of the lungs, liver, pancreas, small bowel, sweat glands, and the male genital system. This is resulting in progressive disability and multisystem failure. This article...
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Indirect inguinal hernia

Indirect inguinal hernias (alternative plural: herniae), a type of groin herniation, are the most common type of abdominal hernia. Epidemiology It is five times more common than a direct inguinal hernia, and is seven times more frequent in males, due to the persistence of the processus vaginal...
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Rheumatic fever

Rheumatic fever is an illness caused by an immunological reaction following group A streptococcal infection.  Epidemiology Risk factors include: children and adolescents aged 5 to 15 years developing nations where antibiotic prescription is low 1 poverty, overcrowding Clinical presentation...
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Hyperdense MCA sign (brain)

The hyperdense MCA sign, also known as Gács sign, is a type of hyperdense vessel sign and refers to focal hyperattenuation of the middle cerebral artery (MCA) on non-contrast brain CT and is due to intraluminal thromboembolic material. It is the earliest visible sign of MCA infarction and is see...
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Alexander disease

Alexander disease, also known as fibrinoid leukodystrophy, is a rare fatal leukodystrophy, which usually becomes clinically evident in the infantile period, although neonatal, juvenile and even adult variants are recognized. As with many other diseases with variable age of presentation, the earl...
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Sigmoid mesocolon

The sigmoid mesocolon is a fold of peritoneum that attaches the sigmoid colon to the pelvic wall.  It is one of the four mesenteries in the abdominal cavity. It has an "inverted V" line of attachment, the apex of which is near the division of the left common iliac artery. It has two limbs: th...
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Habenula

The habenula is part of the epithalamus and receives input from the brain via the stria medullaris. It outputs to many midbrain areas involved in releasing neuromodulators, such as dopamine, norepinephrine, and serotonin. The habenula was traditionally divided into lateral (limbic) and medial (...
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Direct inguinal hernia

A direct inguinal hernia (alternative plural: herniae) is a type of groin herniation, that arises from protrusion of abdominal viscera through a weakness of the posterior wall of the inguinal canal medial to the inferior epigastric vessels, specifically through Hesselbach's triangle. This type ...
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Mazabraud syndrome

Mazabraud syndrome is a rare syndrome characterized by skeletal fibrous dysplasia and intramuscular myxomas 1-3. Epidemiology Only 107 cases have been reported in the global literature (as of 2019) 1,3-5,15. The prevalence is ~ 1 in 1,000,000 3 with a strong female predilection (68-84%) 1,3. T...
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Coup de poignard of Michon

Coup de poignard of Michon refers to spinal subarachnoid hemorrhage, usually as a result of a spinal arteriovenous malformation (AVM). Clinical presentation Presentation is with sudden excruciating back pain, akin to being stabbed with a dagger (poignard is French for dagger). It is the coroll...
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Sjögren syndrome

Sjögren syndrome, or Sjögren disease, is an autoimmune condition of the exocrine glands that produce tears and saliva. Epidemiology Sjögren syndrome is the second most common autoimmune disorder after rheumatoid arthritis. There is a recognized female predilection with F:M ratio of ~9:1. Patie...
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Multiple system atrophy cerebellar type (MSA-C)

Multiple system atrophy cerebellar type (MSA-C), previously known as olivopontocerebellar degeneration, is a neurodegenerative disease, and one of the clinical phenotypes of multiple systemic atrophy (MSA). Terminology It is important to note that the current belief that olivopontocerebellar d...
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Guillain-Barré syndrome

Guillain-Barré syndrome (GBS) is a heterogeneous group of autoimmune polyradiculopathies, involving sensory, motor, and autonomic nerves. It is the most common cause of rapidly progressive flaccid paralysis. It is believed to be one of a number of related conditions, sharing a similar underlying...
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Glycogen storage disease

Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen. Pathology There are many types of GSD: type I: von Gierke disease type II: Pompe disease type III: Cori or Forbes disease type IV: Andersen di...
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Deep brain stimulation

Deep brain stimulation is used in a variety of clinical settings, predominantly in patients with poorly controlled movement disorders. Although effective, its exact mode of function continues to be poorly understood 2.   Careful patient selection and target selection are essential if the proced...
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Pulmonary bullae

Pulmonary bullae (singular: bulla) are focal regions of emphysema with no discernible wall which measure more than 1 or 2 cm in diameter 1-2. Some use the term pulmonary bleb for a similar lesion less than 1 or 2 cm, whereas others use both the terms bleb and bulla interchangeably. They are oft...
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Sclerotic clavicle

Sclerotic clavicles have many causes: trauma: fractured clavicle arthritis: osteoarthritis, seronegative arthritides osteitis condensans of the clavicle 1 SAPHO syndrome clavicular tumors metastases osteosarcoma lymphoma osteoblastoma bone island tumor-like lesions eosinophilic granu...
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Ataxia-telangiectasia

Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a rare multisystem autosomal recessive disorder, sometimes classified as a phakomatosis. It is characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections, and immunodeficiency.  On brain imaging, it usually demo...
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Friedreich ataxia

Friedreich ataxia is the most common hereditary progressive ataxia. Epidemiology Thought to have an estimated prevalence of ~1:50,000. There is no recognized gender predilection. Typically present in childhood to adolescence 11. Those with a higher number of trinucleotide repeats (>500) are t...