Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 15-year retrospective review was undertaken to evaluate the operative outcomes of patients with indeterminate colitis who were referred for rectal-sparing operations. Review of 95 consecutive patients operated for ulcerative colitis (UC) or indeterminate colitis (IC) revealed characteristics of IC in 13 patients. In the group as a whole, there were 45 females and 50 males; the average age was 33. A total of 64 patients had ileoanal pull-through (IAA). Analysis revealed that four of these patients had IC revealed by findings before operation in three patients and following the first stage of operation in one patient. Three of these four patients have subsequently required permanent ileostomy. Six patients who underwent IAA have subsequently demonstrated signs and symptoms of Crohn's disease (CD). All six have subsequently required ileostomy. Overall 10 patients with CD underwent IAA, and nine have required permanent ileostomy. Fourteen patients had ileorectal anastomosis (IRA) for UC or IC. IRA was performed for patients with IC in nine cases, and five patients with UC elected this operative option. Indications for IRA in patients with UC included obesity, 2; mental retardation, 1; advanced age, 1; and patient preference, 1. Of the patients with IC who underwent IRA, two have subsequently shown signs and symptoms of Crohn's disease. Overall, 14 of 14 patients who had IRA still have functioning IRA. None has required ileostomy. The poor results in patients with UC or IC subsequently shown to have CD have caused us to change our operative approach in patients with any question in the diagnosis of UC.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Ileoproctostomy is preferred over ileoanal pull-through in patients with indeterminate colitis. 779 39

We report on eight children with severe diarrhea beginning in the first 6 months of life (< 1 month in six cases), who had a number of features in common. All were small for gestational age and had an abnormal phenotype, including facial dysmorphism, hypertelorism, and woolly, easily removable hair with trichorhexis nodosa. Two were products of consanguineous marriages. Severe secretory diarrhea persisted despite bowel rest (n = 7). Jejunal biopsy specimens showed total or subtotal villous atrophy with crypt necrosis, and inconstant T-cell activation in some cases (n = 3). Colon biopsy specimens showed moderate nonspecific colitis. All the patients had defective antibody responses despite normal serum immunoglobulin levels, and defective antigen-specific skin tests despite positive proliferative responses in vitro. Three had monoclonal hyper-immunoglobulinemia A. The course was marked by diffuse erythroderma in two cases and mental retardation in three. Treatment included bowel rest, intravenous administration of immune globulins, administration of corticosteroids (n = 6) and cyclosporine (n = 2), and bone marrow transplantation (n = 1). Five patients died between the ages of 2 and 5 years (of sepsis or cirrhosis), two are being fed enterally, and one continues to receive total parenteral nutrition. The cause of the combined low birth weight, dysmorphism, severe diarrhea, trichorrhexis, and immunodeficiency is unclear. These features may constitute a specific syndrome within the group of intractable diarrheas of infancy.
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PMID:Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. 802 82

Two siblings suffering from mental retardation, progressive bronchiectasis, extensive warts, and persistent hepatitis B are described. The propositus also had an unusual physiognomy and non-specific colitis. Both patients had a marked decrease in the population of CD4+ helper T cells.
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PMID:Hereditary CD4+ T lymphocytopenia. 962 4

We have reported lymphocytic colitis in children with regressive autism, with epithelial damage prominent. We now compare duodenal biopsies in 25 children with regressive autism to 11 with coeliac disease, five with cerebral palsy and mental retardation and 18 histologically normal controls. Immunohistochemistry was performed for lymphocyte and epithelial lineage and functional markers. We determined the density of intraepithelial and lamina propria lymphocyte populations, and studied mucosal immunoglobulin and complement C1q localisation. Standard histopathology showed increased enterocyte and Paneth cell numbers in the autistic children. Immunohistochemistry demonstrated increased lymphocyte infiltration in both epithelium and lamina propria with upregulated crypt cell proliferation, compared to normal and cerebral palsy controls. Intraepithelial lymphocytes and lamina propria plasma cells were lower than in coeliac disease, but lamina propria T cell populations were higher and crypt proliferation similar. Most strikingly, IgG deposition was seen on the basolateral epithelial surface in 23/25 autistic children, co-localising with complement C1q. This was not seen in the other conditions. These findings demonstrate a novel form of enteropathy in autistic children, in which increases in mucosal lymphocyte density and crypt cell proliferation occur with epithelial IgG deposition. The features are suggestive of an autoimmune lesion.
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PMID:Small intestinal enteropathy with epithelial IgG and complement deposition in children with regressive autism. 1198 72