Items tagged “re-write”
142 results found
Article
Schindler disease
Schindler disease is a rare lysosomal storage disorder characterized by deficiency of alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B).
Epidemiology
It is a rare disease with autosomal recessive inheritance.
Clinical presentation
Age and severity of presentation depends ...
Article
Trisomy 8 mosaic
Trisomy 8 mosaicism or Warkany syndrome is a less severe variant of trisomy 8 and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. They are more likely to survive into childhood and adulthood but can exh...
Article
Pneumococcal pneumonia
Pneumococcal pneumonia is a common lung infection caused by the organism Streptococcus pneumoniae (a.k.a. pneumococcus).
Epidemiology
Pneumococcus accounted for around 95% of pneumonia cases in the pre-antibiotic, pre-vaccination era. Conjugate vaccinations were introduced in 2000. These prote...
Article
Anterior resection syndrome
Anterior resection syndrome refers to a wide spectrum of symptoms which develop following sphincter-preserving anterior resection for rectal cancer.
Epidemiology
There have been reports that up to 47% of patients who undergo anterior resection for rectal cancer develop anterior resection syndr...
Article
Primary pulmonary chondrosarcoma
Primary pulmonary chondrosarcoma is an extremely rare form of chondrosarcoma, in terms of location. The majority of intrathoracic chondrosarcomas occur in relation to the chest wall.
Epidemiology
While the exact incidence is unknown, only a handful of cases have been reported in the literature...
Article
Hyperlipidemia
Hyperlipidemia is a condition in which elevated levels of lipids circulating in the blood.
Clinical presentation
Hyperlipidemia is usually asymptomatic. However, certain forms may be associated with types of xanthomas.
Pathology
Several genetic disorders (e.g. familial hypercholesterolemia) ...
Article
Myofibroma
Myofibromas are benign neoplasms of soft tissues of myofibroblastic differentiation.
Terminology
The term "myofibroma" is used for solitary lesions and "myofibromatosis" for multicentric lesions.
Epidemiology
Myofibromas can occur at any age, but most predominantly occur in infants and youn...
Article
Gastroptosis
Gastroptosis is characterized by abnormal downward displacement of the stomach. It may be part of a wider spectrum called visceroptosis.
Epidemiology
There is paucity of literature about the actual prevalence of the condition. It is more common in females.
Clinical presentation
It has nonspe...
Article
Ischemic type biliary lesions
Ischemic type biliary lesions (ITBL) is a term used to describe non-anastomotic intra- or extrahepatic bile duct strictures after primarily successful liver transplantation, when there is no evidence of perfusion restriction or other cause of bile duct damage (i.e organ rejection or recurrence o...
Article
Peritesticular lipoma
Peritesticular lipoma is considered the most common benign tumor of the paratesticular tissues and spermatic cord (can comprising around 45% of paratesticular masses).
Clinical presentation
Often manifests as an incidentally discovered nontender scrotal mass. Can affect patients over a wide ag...
Article
Gastritis
Gastritis (plural: gastritides) refers to any form of mucosal inflammation of the stomach and can sometimes be part of a wider gastroenteritis. It may have acute or chronic forms.
Pathology
There are different types of gastritis, including:
acute gastritis
atrophic gastritis
emphysematous g...
Article
Interstitial lung disease associated with systemic sclerosis
Interstitial lung disease associated with systemic sclerosis (SSc-ILD) is one of the important pulmonary manifestations of systemic sclerosis. It usually gives a NSIP type pattern with an UIP pattern occurring less commonly 7. It can sometimes produce a rapidly progressive interstitial lung dise...
Article
Keutel syndrome
Keutel syndrome is an extremely rare inherited condition.
Clinical presentation
It is characterized by:
cartilage calcification of:
ears
nose
larynx
trachea - with resultant tracheobronchial stenosis
ribs
pulmonary arterial stenoses
brachytelephalangism (short fingers and nails that re...
Article
Cerebral varix
Cerebral varices, also known as cerebral venous aneurysms or isolated cerebral varices are uncommon cerebral vascular malformations, only rarely found in isolation, hence the name isolated cerebral varix. They are more commonly encountered in association with other vascular malformations, such a...
Article
Adult hypophosphatasia
Adult hypophosphatasia is generally considered a milder form of hypophosphatasia.
Clinical presentation
It is usually classified as hypophosphatasia occurring after 18 years of age and typically diagnosed after middle age 2. It is normally not associated with low bone mass in general but can h...
Article
Myometritis
Myometritis describes inflammation of the myometrium. It can fall under the broader umbrella term of pelvic inflammatory disease and can often be associated with endometritis. It can arise in a variety of situations with puerperal situations being the most common. In some situations, puerperal i...
Article
Spinal epidural venous plexus congestion
Spinal epidural venous plexus congestion or dilatation is typically a complication of other pathologies.
Clinical presentation
Radiculopathy caused by the dilated epidural veins is not uncommon 1.
Pathology
Several spinal and pelvic diseases can result in secondary epidural venous engorgem...
Article
Interference screw
An interference screw is a direct tendon-to-bone interference fixation device. It is a compression fixation device that relies on the screw threads to engage and compress the graft for fixation. It is most commonly used in anterior cruciate ligament reconstruction.
One notable specific type of ...
Article
Granulomatous epididymitis
Granulomatous epididymitis refers to a form of epididymitis secondary to a granulomatous process. It may or may not be associated with concurrent orchitis.
It is usually associated with:
tuberculosis - tuberculous epididymitis
bacillus Calmette–Guérin (BCG) vaccine
Occasionally cases are idi...
Article
Pseudoachondroplasia
Pseudoachondroplasia (PSACH) refers to a type of osteochondrodysplasia.
Clinical presentation
It is characterized by:
rhizomelic dwarfism
limb and vertebral deformities
joint laxity
early onset osteoarthrosis
Furthermore, typically there is an absence of abnormality and a normal craniofac...
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