Items tagged “re-write”

44 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

Deep vein thrombosis

The term deep vein thrombosis (DVT) is practically a synonym for clots occuring in the lower limbs. However, it can also be used for those that occur in the upper limbs and neck veins. Other types of venous thrombosis, such as intra-abdominal and intracranial, are discussed in separate articles....
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 presentati...
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

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 fi...
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: diseases with Lewy bodies Parki...
Article

Tauopathy

Tauopathies are a heterogeneous group of neurodegenerative diseases characterized by abnormal metabolism of tau proteins leading to intracellular accumulation and formation of neurofibrillary tangles (NFT). These neurofibrillary tangles are deposited in the cytosol of neurons and glial cells.  ...
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

Spinal synovial cyst

Synovial cysts of the spine are cystic formations connected to the facet joint and containing synovial fluid lined by a cuboid or pseudostratified columnar epithelium. They may result in lumbar radiculopathy in a significant number of cases. Clinical presentation They may be asymptomatic and f...
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...
Article

Primary pulmonary lymphoma

Primary pulmonary lymphomas refer to clonal lymphoid proliferation affecting the lungs without any detectable extrapulmonary involvement. It is much rarer than secondary pulmonary lymphoma and is most frequently represented by lymphoma of B-cell lineage - often marginal zone B-cell lymphoma of m...
Article

Metaphyseal chondrodysplasia

Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia. Pathology Classification Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cupped resembling rickets Pena and Vaandrager type - intermedi...

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