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Items tagged “re-write”

68 results found
Article

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...
Article

Cystic fibrosis

Cystic fibrosis (CF) is an autosomal recessive genetic disease that affects the exocrine function of the lungs, liver, pancreas, and small bowel resulting in progressive disability and multisystem failure. This article is a general discussion of the disease. Each organ system will be discussed s...
Article

Indirect inguinal hernia

Indirect inguinal hernias, a type of groin herniation, are the most common type of abdominal hernias. 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 vaginalis during testicular descent....
Article

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...
Article

Polycystic ovarian syndrome

Polycystic ovarian syndrome (PCOS), recently referred also as hyperandrogenic anovulation, is a chronic anovulation syndrome associated with androgen excess.  The diagnosis of PCOS generally requires any two of the following three criteria for the diagnosis, as well as the exclusion of other et...
Article

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...
Article

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...
Article

Direct inguinal hernia

A direct inguinal hernia, a type of groin herniation, are a common type of abdominal hernias. They arise from protrusion of abdominal viscera through a weakness of the posterior wall of the inguinal canal medial to the inferior epigastric vessels, specifically through the Hesselbach triangle. T...
Article

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...
Article

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. Pati...
Article

Olivopontocerebellar degeneration (MSA-C)

Olivopontocerebellar degeneration (OPCD) is a neurodegenerative disease, and one of the clinical manifestations of multiple systemic atrophy (MSA). It is important to note that the current belief that olivopontocerebellar degeneration, Shy-Drager syndrome, and striatonigral degeneration are dif...
Article

Mosaic attenuation pattern in lung

Mosaic attenuation is a descriptive term used in describing a patchwork of regions of differing pulmonary attenuation on CT imaging. It is a non-specific finding, although is associated with the following: obstructive small airways disease: low attenuation regions are abnormal and reflect decre...
Article

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...
Article

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...
Article

Langer-Giedion syndrome

Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is an extremely rare autosomal dominant genetic disorder. Pathology The effects are seen mainly on the skeletal system and primarily involves hair: tricho nose: rhino digits of the hands and feet: phalangeal The...
Article

Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I). Epidemiology The estimated incidence is ~1:100,000. Clinical presentation It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the f...
Article

Pulmonary non-tuberculous mycobacterial infection

Pulmonary non-tuberculous mycobacterial (NTM) infection refers to pulmonary infection caused by one of the large number (at least 150) mycobacterial species other than Mycobacterium tuberculosis. However, certain species are much more common than others. Clinical presentation Some patients are...
Article

Stroke in children and young adults

Brain ischemia/infarction in children and young adults can result from several causes. embolic phenomena cyanotic heart disease cardiomyopathies mitral valve prolapse Osler-Weber-Rendu syndrome arterial dissection trauma spontaneous fibromuscular dysplasia Marfan syndrome Ehlers Danlo...
Article

Micrognathia

The term micrognathia describes a small mandible. Pathology A small mandible occurs secondary to abnormalities of the first branchial arch which in turn are caused by deficient or insufficient migration of neural crest cells and usually occur around the 4th week of gestation. Associations Mi...
Article

Parry-Romberg syndrome

Parry-Romberg syndrome (PRS), also known as progressive facial hemiatrophy (PFH), is a rare progressive craniofacial disorder (phakomatosis). It is classically characterized by a slow progressive degeneration (atrophy) of the soft tissues of half of the face (hemifacial atrophy). This involves ...

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