Disease

Articles

• triple X syndrome
  26 February 2008

  trisomy X; 47,XXX; triploX

• 4p- syndrome
  1 October 2003

  Wolf-Hirschhorn syndrome

• Marfan disease
  17 November 2003

  Marfan’s disease, Marfan syndrome

• hepatic ARPKD
  9 May 2004

  Synopsis
  anomalies of hepatic organogenesis (hepatic dysplasia) ductal plate malformation (DPM) portal fibrosis (congenital hepatic fibrosis)
  Associations
  phosphomannose isomerase deficiency (#10963387#)
  hereditary hemorrhagic telangiectasia (#9500780#)
  References
  Strayer DS, Kissane JM. Dysplasia of the kidneys, liver, and pancreas: report of a variant of Ivemark’s syndrome. Hum Pathol. 1979 Mar;10(2):228-34. PMID: (...)

• palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
  31 March 2007

  References
  Parma, P.; Radi, O.; Vidal, V.; Chaboissier, M. C.; Dellambra, E.; Valentini, S.; Guerra, L.; Schedl, A.; Camerino, G. : R-spondin 1 is essential in sex determination, skin differentiation and malignancy. Nature Genet. 38: 1304-1309, 2006. PubMed ID : #17041600#
  Radi, O.; Parma, P.; Imbeaud, S.; Nasca, M. R.; Uccellatore, F.; Maraschio, P.; Tiepolo, L.; Micali, G.; Camerino, G. : XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic (...)

• GM1 gangliosidosis
  29 April 2016

  Images
  Suspected skeletal dysplasia with pulmonary hypoplasia @ 37gw. Small placenta (304g) : GM1 gangliosidosis https://twitter.com/sranna86/status/899780925445165056 Placental metabolic dysfunction due to GM1 gangliosidosis Placental shows vacuolisation of syncytiotrophoblast, intermediate trophoblast, and stromal Hofbauer cells. AR lysosomal storage disease characterised by def of acid beta-galactosidase resulting in accumulation of gangliosides and MPS in tissues.
  GM1 (...)

• 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

• listeriosis
  13 February 2006

  Definition: Infection by Listeria monocytogenes.
  In acute human infections, Listeria monocytogenes evokes an exudative pattern of inflammation with numerous neutrophils.
  The meningitis it causes is macroscopically and microscopically indistinguishable from that caused by other pyogenic bacteria.
  The finding of Gram-positive, mostly intracellular, bacilli in the CSF is virtually diagnostic. More varied lesions may be encountered in neonates and immunosuppressed adults.
  Focal abscesses (...)

• Gaucher disease
  1 October 2003

  Definition: Gaucher disease refers to a cluster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase. Acid beta-glucocerebrosidase, also known as beta-glucosidase (GBA) (EC 3.2.1.45), is a lysosomal enzyme that catalyzes the breakdown of the glycolipid glucosylceramide to ceramide and glucose.
  This disease is the most common lysosomal storage disorder. The affected gene encodes glucocerebrosidase, an enzyme that normally cleaves the glucose (...)

• type 1 diabetes
  25 September 2003

  type I diabetes

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