Disease

Articles

• Wilson disease
  30 May 2003

  Wilson’s disease

• Beckwith-Wiedemann syndrome
  17 September 2003

  Wiedemann-Beckwith syndrome

• Niemann-Pick disease type B
  15 August 2012

  NPDB; acid sphingomyelinase deficiency
  Definition: NPD type B is a rare inborn error of metabolism of autosomal recessive inheritance. Patients with Niemann-Pick disease type B (NPDB) have a benign course and prognosis. It is mainly a visceral form without neurologic manifestations despite the massive visceral involvement. NPDB is caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1) (MIM.607608)
  Digital slides
  Case 52 (HPC:52) : Liver in (...)

• thrombotic microangiopathy
  15 April 2005

  thrombotic microangiopathies, Moschkowitz syndrome, TMA

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• chronic granulomatous disease
  3 October 2003

  CGD

• malignant hyperthermia
  6 September 2005

  Definition: Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, in humans, to stresses such as vigorous exercise and heat.
  The incidence of MH reactions ranges from 1:5,000 to 1:50,000-100,000 anesthesias. However, the prevalence of the genetic abnormalities may be as great as one (...)

• asthma
  12 November 2003

  Definition: Asthma is a chronic respiratory condition that affects children and adults. Genetic predisposition and environmental factors interact to produce the disease.
  Images
  Asthma; airway parietal edema , smooth muscle hyperplasia , mucus gland hyperplasia
  https://twitter.com/H_Elshoni/status/747268830955593729
  Types
  acute asthma
  chronic asthma
  Synopsis
  mucus plugs
  mucosal eosinophilic infiltrate
  mucosal basement membrane thickening with sunmembranous collagen (...)

• glycogen storage disease type 4
  25 April 2004

  GSD4; glycogenosis type 4; glycogen storage disease type IV, glycogenosis type IV, GSD IV, glycogen branching enzyme deficiency, GBE1 deficiency, Andersen disease, Brancher deficiency, amylopectinosis, familial cirrhosis with deposition of abnormal glycogen, GSD4

• trisomy 22
  9 May 2005

  Trisomy 22 is frequently seen in first trimester miscarriages but is extremely rare in life-borns. Trisomy 22 is commonly found among spontaneous abortions, second in frequency of occurrence only to trisomy 16. Most earlier reports of surviving trisomy 22 cases in the literature are thought to represent the product of unbalanced 11;22 translocations or the result of undetected mosaicism, since this condition is thought to manifest early embryonic or fetal lethality.
  Types
  non-mosaic (...)

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 1050