Disease

Articles

• cobalamin C disease
  22 July 2008

  Cobalamin C disease is the most common inborn error of cobalamin metabolism with an autosomal recessive mode of inheritance and mutations within the MMACHC gene.
  Clinical features, including systemic, haematological and neurological abnormalities, usually occur in the first year of life. Adolescent and adult onset presentations are rare.
  As cobalamin C disease and related disorders of homocysteine metabolism are treatable conditions, homocysteinaemia should be included in the (...)

• juvenile polyposis
  11 March 2004

  Juvenile polyposis syndrome; JPS; JPD; Juvenile polyposis disease; digestive juvenile polyposis
  Autosomal dominant disease.
  JPS presents in childhood or adulthood with a history of rectal bleeding. The juvenile polyps may be limited to the colorectum or generalized throughout the gastrointestinal tract. Rarely, the stomach is the principal site of involvement.
  Genetic types
  MADH4-associated juvenile polyposis (SMAD4)
  BMPR1A-associated juvenile polyposis
  Images
  Juvenile polyposis. (...)

• peroxisomal acyl-CoA-oxidase deficiency
  26 May 2009

  References
  Peroxisomal acyl-CoA-oxidase deficiency: two new cases. Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. PMID: #18536048#

• eosinophilic fasciitis
  1 March 2004

  Synopsis
  eosinophilic fasciitis
  monoclonal gammopathy
  thyroglobulin antibodies
  pericarditis
  colitis
  References
  Naschitz JE, Yeshurun D, Miselevich I, Boss JH. Colitis and pericarditis in a patient with eosinophilic fasciitis. A contribution to the multisystem nature of eosinophilic fasciitis. J Rheumatol. 1989 May;16(5):688-92. PMID: #2502625#

• obesity
  19 April 2004

  Obesity is associated with many adverse health effects, including an increased risk of diabetes and heart disease.
  The combined condition of obesity, diabetes and heart disease is sometimes referred to as the metabolic syndrome.
  One of the factors that best correlates obesity with the rest of the metabolic syndrome is not overall body mass, but the distribution of adipose tissue in the abdominal region, visceral obesity.
  Obesity is a global epidemic resulting from sedentary lifestyles, (...)

• epidermolysis bullosa simplex
  19 March 2004

  Types
  KRT14-associated epidermolysis bullosa simplex Koebner type epidermolysis bullosa simplex (MIM.131900) Dowling-Meara type epidermolysis bullosa simplex (MIM.131760) recessive epidermolysis bullosa simplex Weber-Cockayne type epidermolysis bullosa simplex (MIM.131800)
  References
  Schroder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Furst DO, Blumcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, (...)

• neonatal necrotizing enterocolitis
  6 April 2004

  NNEC, necrotizing enterocolitis of the neonate

• cone rod dystrophies
  6 October 2003

  inherited retinal dystrophy, cone-rod dystrophy

• ACEIs fetopathy
  22 November 2004

  Synopsis
  neonatal anuria renal tubular dysgenesis

• maternal smoking fetopathy
  14 December 2004

  References
  Vogt Isaksen C. Maternal smoking, intrauterine growth restriction, and placental apoptosis. Pediatr Dev Pathol. 2004 Sep-Oct;7(5):433-42. PMID: #15568214#

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