Disease

Articles

• juvenile nephronophthisis
  27 October 2003

  Nephronophthisis comprises a group of autosomal recessive cystic kidney diseases, which constitute the most frequent genetic cause for end-stage renal failure in children and young adults.
  Synopsis
  medullary cystic disease renal medullary cysts renal corticomedullary cysts renal interstitial fibrosis renal tubular atrophy relatively spared glomeruli
  nephronophthisis-associated hepatic disease nephronophthisis-associated congenital hepatic fibrosis hepatic fibrosis
  Variants (...)

• campomelic dysplasia
  14 January 2005

  campomelic dysostosis, camptomelic dysplasia, camptomelic syndrome, campomelic dwarfism

• thanatophoric dysplasia
  5 July 2005

  thanatophoric dwarfism, thanatophoric dysplasias

• autoimmune enteropathy
  12 November 2003

  AIE. Nom. 1985, Ent. 1985 (Unsworth DJ and Walker-Smith JA)

• mixed gonadal dysgenesis
  22 December 2005

  asymmetric gonadal dysgenesis; 46,XY disorders of sex development

• osteogenesis imperfecta
  26 May 2004

  Autosomal dominant disease.
  Synopsis
  systemic anomalies
  perinatal death
  premature birth
  nonimmune hydrops
  low birth weight
  ocular anomalies
  blue sclerae
  craniofacial anomalies
  beaked nose
  large fontanelles
  platyspondyly
  skeletal anomalies
  short limb dwarfism
  beaded ribs
  numerous multiple fractures present at birth
  soft calvaria
  absent calvarial mineralization
  hips usually flexed and abducted (frog-leg position)
  flattened acetabulae and iliac wings (...)

• acute appendicitis
  2 September 2004

  Digital cases
  HPC:25 : acute appendicitis
  HPC:94 : acute appendicitis
  HPC:368 : Granulation tissue after acute appendicitis
  Videos
  Acute appendicitis (by Washington Deceit)
  Peri-appendiceal abscess (by Washington Deceit)
  Laparoscopic appendicectomy
  See also
  appendicectomy (videos)
  References
  Lamps LW. Appendicitis and infections of the appendix. Semin Diagn Pathol. 2004 May;21(2):86-97. PMID: #15807469#
  References
  Minimal added value of further blocks in negative (...)

• 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 (...)

• congenital epidermolytic hyperkeratosis
  18 March 2004

  bullous ichthyosis; bullous congenital ichthyosiform erythroderma
  Images
  7 day old baby. erythrodermia and bullous lesions. https://twitter.com/crisgbellvert/status/836149943857463297
  Etiology
  germ-line mutations in the keratin-1 gene (KRT1 ) in the keratin-10 gene (KRT10 )
  Differential diagnosis
  epidermolytic acanthoma
  warts (especially of the palmoplantar type )
  epidermal nevi
  bullous ichthyosiform erythroderma
  ichthyosis (...)

• pseudomembranous colitis
  10 January 2005

  Defintion : The pseudomembranous colitis inflammatory pattern is associated with infections primarily caused by Clostridium difficile and less frequently by other bacteria (E. coli, Shigella).
  A similar pattern may be caused by ischemia, certain drugs and radiation injury.
  The diffuse distribution of the lesions favor an infectious or drug induced etiology. The localized distribution of the lesions favor an ischemic etiology.
  Images (...)

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