Items tagged “re-write”

54 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

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

Chronic obstructive pulmonary disease

Chronic obstructive pulmonary disease (COPD) represents a spectrum of obstructive airway diseases. It includes two key components which are chronic bronchitis-small airways disease and emphysema.  Epidemiology The most common cause has historically been, and unfortunately continues to be, smok...
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

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 diff...
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

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 ...
Article

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...
Article

Central nervous system curriculum

The central nervous system curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core central nervous system knowledge. Definition  Topics pertaining to the intracranial content (brain, pituitary, dura, intracranial vasculatures). There will be...
Article

Miliary nodules in the exam

Getting a film with miliary nodules in the exam is one of the many exam set-pieces that can be prepared for. The film goes up and after a couple of seconds pause, you need to start talking: Chest radiograph There are multiple tiny soft-tissue density nodules present throughout both lungs with...
Article

Complex breast cyst

A complex breast cyst is a morphological type of breast cyst along with simple breast cysts and complicated breast cysts. The current preferred term for complex breast cysts is solid and cystic mass to avoid confusion with a complicated cyst. Radiographic features Breast ultrasound The presen...
Article

Speckle tracking echocardiography

Speckle tracking echocardiography describes the semi-automated analysis of grey scale (B-mode) echocardiographic studies in which the spatial translocation of derived functional units (speckles) allows quantitative analysis of myocardial function. Speckle tracking constitutes a subset of deform...

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.