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807 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, Lower Gastrointestinal Hemorrhage, Mostly Sporadic

  • Sotos Syndrome

    Abstract We isolated NSD1 from the 5q35 breakpoint in an individual with Sotos syndrome harboring a chromosomal translocation. We identified 1 nonsense, 3 frameshift and 20 submicroscopic deletion mutations of NSD1 among 42 individuals with sporadic cases of Sotos syndrome. The results indicate that[…][doi.org]

    Missing: Lower Gastrointestinal Hemorrhage
  • Infectious Colitis

    Campylobacter leads mostly to sporadic infections. About 50% of cases are associated with the handling and consumption of poultry.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Adenocarcinoma of the Colon

    The RER sporadic colon cancers are mostly diploid, without LOH, with few mutations of p53 and APC and right-sided; they contain mutations in repetitive coding sequences of[atlasgeneticsoncology.org] Somatic mutation Somatic mutations of SMAD2 have been described in 3.4% of sporadic CRC, mostly causing missense changes in the protein which reduces SMAD2/SMAD4 complex formation[atlasgeneticsoncology.org] Loss of DCC is mostly observed in metastatic cancers.[atlasgeneticsoncology.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Juvenile Polyp

    Case Report Abstract: Colorectal cancers are mostly sporadic; some cases of familial clustering and autosomal dominant conditions are also known to occur.[jgo.amegroups.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Campylobacter Enteritis

    Most infections are sporadic and believed to be foodborne; large outbreaks are infrequent and mostly due to the consumption of raw milk or unchlorinated water.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Peutz-Jeghers Syndrome

    Chromosome 19p13 • Mostly hereditary. Can also be sporadic in 10- 20% cases 4.[slideshare.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Typhus

    It is endemic in many areas and is mostly sporadic in nature.[symptoma.com] Incomplete and inappropriate treatment of infection may increase the risk of recurrence, mostly in the form of Brill-Zinsser disease.[symptoma.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Hemorrhoids

    Abstract Identifying the source of lower gastrointestinal hemorrhage in patients with chronic liver disease and portal hypertension can be challenging.[ncbi.nlm.nih.gov] These varices are not responsible for hemorrhoidal bleeding, but may rarely cause lower gastrointestinal hemorrhage.[web.archive.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Mostly Sporadic
  • Colonic Diverticulosis

    Symptomatic presenting features of diverticular disease (i.e. presentation of complicated diverticulosis) include: diverticulitis lower gastrointestinal hemorrhage ("diverticular[radiopaedia.org] Urgent colonoscopy for evaluation and management of acute lower gastrointestinal hemorrhage: A randomized controlled trial .[ncbi.nlm.nih.gov] Analysis of urgent colonoscopy for lower gastrointestinal tract bleeding . Digestion 2000; 61 : 189–192 [ PubMed ] 93. Bloomfeld RS, Rockey DC, Shetzline MA.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Mostly Sporadic
  • Familial Adenomatous Polyposis

    Familial adenomatous polyposis (FAP) is an inherited condition arising from genetic defects in the Adenomatous polyposis coli (APC) gene. Carriers with mutations in the APC gene develop polyps in the colon and rectum which if not managed, transition into colon cancer. In this study, we identified a novel germline[…][ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Mostly Sporadic

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