Disease

Articles

• 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 (...)

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• Parkinson disease
  29 September 2003

  Parkinson’s disease, pakinsonism

• Meckel syndrome
  18 March 2004

  Meckel-Gruber syndrome, dysencephalia splanchnocystica

• Hirschsprung disease
  6 October 2003

  Hirschsprung’s disease, congenital intestinal aganglionosis, digestive aganglionnosis; digestive aganglionoses PO1 PO2
  Definition: Aganglionic megacolon is associated with congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. The disorder is genetically heterogeneous.
  Digital cases
  HPC:90 : rectal mucosa biopsies
  HPC:98 : rectal mucosa biopsies
  HPC:151 : Hirschsprung disease - Rectal (...)

• Cowden disease
  2 November 2004

  multiple hamartoma syndrome, Cowden syndrome; PTEN hamartoma tumor syndrome (PHTS).
  Definition: Cowden syndrome is a rare autosomal dominant condition named after the Cowden family in which it was initially documented.
  Images
  Digestive hamartomas with neural and fatty elements, lymphoid aggs
  https://twitter.com/CArnold_GI/status/830854075944144898
  Manifestations of the syndrome include gastrointestinal, oral and cutaneous hamartomas, tumors of breast and thyroid, autoimmune (...)

• lichen striatus
  17 June 2004

  Images
  Lichen striatus (lichenoid inflammation and perieccrine inflammation ) https://twitter.com/faisalmohammedi/status/834896649977802754 https://twitter.com/GBRainwater/status/854350881856344067
  Synopsis
  lichenoid inflammation
  peri-eccrine inflammation / peri-eccrine lymphocytic infiltrate
  DIFFERENTIAL:
  linear lichen planus
  lichen niditus
  inflammatory linear verrucous epidermal (...)

• pentalogy of Cantrell
  19 December 2005

  THAS, TAS, thoracoabdominal syndrome, Cantrell syndrome, "shagreen skin" pentalogy

• Crohn disease
  30 December 2003

  Crohn’s disease

• ankylosing spondylitis
  17 August 2004

  Susceptibility
  major histocompatibility complex (MHC) region
  HLA B27
  rs13202464 within the MHC region mainly represents the risk effect of HLA-B*27 variants (including HLA-B*2704, HLA-B*2705 and HLA-B*2715) (Chinese)
  Locus 2q13 (IL1 cluster) (#15309690#)
  EDIL3 and HAPLN1 at 5q14.3 (rs4552569) (bone formation and cartilage development)
  ANO6 at 12q12 (rs17095830) (bone formation and cartilage development)
  2p15 (rs10865331)
  Reviews
  Sims AM, Wordsworth BP, Brown MA. Genetic (...)

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