Items tagged “re-write”

83 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 11. This is resulting in progressive disability and multisystem failure. This artic...
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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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Polycystic ovarian syndrome

Polycystic ovarian syndrome (PCOS), recently referred also as hyperandrogenic anovulation, is a chronic anovulation syndrome associated with androgen excess.  The Rotterdam criteria is used to make the diagnosis of PCOS and require any two of the following three criteria for the diagnosis, as w...
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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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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 ...
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...
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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. Pati...
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Multiple system atrophy cerebellar type (MSA-C)

Multiple system atrophy cerebellar type (MSA-C) also known as olivopontocerebellar degeneration 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-...
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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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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...
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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...
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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...
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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. Epidemiology Risk factors chronic lung...
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Stroke in children and young adults

Stroke in children and young adults can result from several causes, which are distinct from the most common causes in adults. Pathology Etiology Arterial ischemic stroke arteriopathies focal cerebral arteriopathy of childhood CNS vasculitis (e.g. large vessel childhood primary angiitis of ...
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Micrognathia

The term micrognathia describes a small mandible. Epidemiology Associations Micrognathia is associated with a vast array of other congenital anomalies which include: aneuploidic syndromic trisomy 9 4 trisomy 13 trisomy 18  non-aneuploidic syndromic arterial tortuosity syndrome Fryns sy...
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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 slowly progressive degeneration (atrophy) of the soft tissues of half of the face (hemifacial atrophy). This involve...
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Synucleinopathy

Synucleinopathies are a subgroup of neurodegenerative diseases, characterized by impairment of alpha-synuclein metabolism, resulting in abnormal intracellular deposits and can further be divided into those with and those without the formation of Lewy bodies 1,2: synucleinopathies with Lewy bodi...