Items tagged “re-write”
142 results found
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: "-phalang...
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
Pseudobulbar palsy
Pseudobulbar palsy is a clinical syndrome that results from bilateral upper motor neuron lesions predominantly affecting cranial nerves IX, X and XII.
Terminology
Pseudobulbar palsy should be differentiated from bulbar palsy, which is a lower motor neuron syndrome involving the same cranial ne...
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.
Epidemiology
Risk factors
chronic lung...
Article
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
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)
CARA...
Article
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...
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 slowly progressive degeneration (atrophy) of the soft tissues of half of the face (hemifacial atrophy). This involve...
Article
Kissing carotids
The term kissing carotids refers to tortuous and elongated carotid arteries which touch in the midline. They can be found in:
retropharynx 2
intrasphenoid 1
within the pituitary fossa
within sphenoid sinuses
within sphenoid bones
The significance of kissing ca...
Article
Synucleinopathy
Synucleinopathies are a subgroup of neurodegenerative diseases, characterized by impairment of alpha-synuclein metabolism, resulting in abnormal intracellular deposits. They can further be divided into those with and those without the formation of Lewy bodies, although it should be noted that so...
Article
Perigestational hemorrhage
Perigestational hemorrhage refers to hemorrhage that occurs around the fetus during the gestational period. The spectrum of hemorrhage includes:
chorionic hemorrhage: caused by the separation of the chorion from the endometrium
subchorionic hemorrhage: most common type, occurs between the cho...
Article
Pontine hemorrhage
Pontine hemorrhages are a common form of intracerebral hemorrhage, and usually are a result of poorly controlled long-standing hypertension, although also have other causes. When due to chronic hypertension, the stigmata of chronic hypertensive encephalopathy are often present (see cerebral micr...
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
Jarcho-Levin syndrome
Jarcho-Levin syndrome, or spondylothoracic dysostosis, is a rare genetic disorder.
Terminology
Previously, spondylocostal dysostosis was considered part of the Jarcho-Levin syndrome spectrum.
Epidemiology
The exact prevalence of this disease is unknown.
Clinical presentation
It is primaril...
Article
Duane-radial ray syndrome
Duane-radial ray syndrome, also known as the Okihiro syndrome, is a rare an autosomal dominant condition characterized by radial ray defects and Duane syndrome (a form of strabismus with partial horizontal gaze palsy).
Pathology
Duane-radial ray syndrome is caused by a pathogenic mutation to S...
Article
Pachydermoperiostosis
Pachydermoperiostosis, also known as Touraine-Solente-Golé syndrome, refers to a rare osteoarthrodermopathic syndrome with familial and idiopathic forms. It is also known as primary hypertrophic osteoarthropathy because it is not due to a secondary cause such as lung disease.
Epidemiology
Pach...
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
Hydrocephalus
Hydrocephalus denotes an increase in the volume of CSF, causing the distension of cerebral ventricles (ventriculomegaly) due to insufficient passage of the CSF from its point of production in the ventricles into the systemic circulation 7.
Terminology
Although hydrocephalus is typically referr...
Article
Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome (BHDS), also known as folliculin gene-associated syndrome, is a multi-system disease characterized by:
cutaneous manifestations, typically fibrofolliculomas
multiple lung cysts and spontaneous pneumothoraces
increased risk of renal tumors, typically chromophobe oncocyt...
Article
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is an extremely rare but underdiagnosed pulmonary disorder at the benign end of the neuroendocrine cell proliferation spectrum of preinvasive lesions of the lungs.
The diagnosis can be suggested when CT demonstrates charact...
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