Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hirschsprung disease (HSCR), or congenital aganglionic megacolon, is the most common cause of congenital bowel obstruction with an incidence of 1 in 5000 live births. Recently, linkage of an incompletely penetrant, dominant form of HSCR was reported, followed by identification of mutations in the RET receptor tyrosine kinase. To determine the frequency of RET mutations in HSCR and correlate genotype with phenotype, we have screened for mutations among 80 HSCR probands representing a wide range of phenotypes and family structures. Polymerase chain reaction (PCR) and single-strand conformation polymorphism (SSCP) analysis of RET's 20 exons for mutations among probands revealed eight putative mutations (10%). Sequence changes, which included missense, frameshift and complex mutations, were detected in both familial and isolated cases, among patients with both long- and short-segment HSCR and in three kindreds with other phenotypes (maternal deafness, talipes and malrotation of the gut, respectively). Two mutations (C609Y and C620R) we identified have previously been associated with multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC) and, on rare occasions, HSCR. Thus, while HSCR family members may be at risk for developing neuroendocrine tumors, it follows that identical mutations in RET may be able to participate in the pathogenesis of distinct phenotypes. Our data suggest that: (i) the overall frequency of RET mutations in HSCR patients is low and therefore, other genetic and/or environmental determinants contribute to the majority of HSCR susceptibility, and (ii) at present, there is no obvious relationship between RET genotype and HSCR phenotype.
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PMID:Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. 763 41

Inflammatory pseudotumours are the morphological expression of diverse processes such as reactive/reparative, infective, and neoplastic. This paper reports an example of intestinal inflammatory pseudotumour, with identification of a newly characterized bacterium in the lesion. The patient presented with intestinal obstruction. Laparotomy revealed a tumour in the terminal ileum causing stricture, and multiple enlarged regional lymph nodes. Histologically, the tumour and lymph nodes were composed of plump spindle cells disposed in a vague storiform pattern, and associated with lymphocytes and plasma cells. Immunohistochemical studies showed that most of the spindle cells were histiocytes (CD68 positive), prompting a search for a bacterial aetiology, akin to mycobacterial spindle cell pseudotumour. All histochemical stains for micro-organisms were unrewarding. Ultrastructural studies, however, revealed abundant bacteria within the spindle histiocytes. Polymerase chain reaction, using conserved oligonucleotide primers complementary to the 16S rRNA genes of eubacteria, was employed to amplify 16S rRNA gene fragments directly from the involved lymph node tissue. Phylogenetic analysis of the amplified DNA sequences revealed an organism with 99% sequence conformity to Pseudomonas veronii, a bacterium which has hitherto not been implicated in human infection. The importance of searching for an infective agent in inflammatory pseudotumour in the appropriate setting is re-emphasized.
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PMID:Intestinal inflammatory pseudotumour with regional lymph node involvement: identification of a new bacterium as the aetiological agent. 1105 8

We report a case of colonic adenosquamous carcinoma with MSI-H (microsatellite instability-high) in a 43-year-old male who presented with bowel obstruction due to a circumferential mass involving the descending colon and splenic flexure. Microscopically, it showed poorly differentiated adenocarcinoma with squamous differentiation, tumor infiltrating lymphocytes >3/high-power field, and mild peritumoral lymphocytic response. Immunohistochemistry was equivocal for MLH-1, PMS-2, and MSH-2, with retention of MSH-6 expression. Polymerase chain reaction testing demonstrated MSI-H pattern with instability of BAT-25, BAT-26, and NR-21. Review of the literature revealed only one recently published case of MSI-H adenosquamous carcinoma. The role of MSI in adenosquamous carcinoma pathogenesis is still unknown. In conclusion, MSI testing in colonic adenosquamous carcinoma combined with other MSI-related clinical and histological features is indicated.
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PMID:An Unusual Variant of Adenocarcinoma of the Left Colon Associated With Microsatellite Instability: A Case Report. 2853 83