Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000729 (abdominal cramps)
 531 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Factors influencing small bowel morphology in dermatitis herpetiformis (DH) were investigated by comparing patients with DH and normal small bowel biopsies to patients with DH and abnormal small bowel biopsies. The mean age of 18 patients with morphological changes in small bowel (38 years) was significantly lower (P less than 0-001) than the mean age of nine patients with normal bowel mucosa (60 years). HLA typing confirmed the high frequency of HLA-B8 in DH (64%) but HLA-B8 was unrelated to the presence or severity of small bowel lesions. Four patients had diarrhoea with progressive weight loss or abdominal cramps subsequently responsive to gluten withdrawal. In this subgroup serum levels of IgG and IgM were significantly lower than in patients with normal small bowel mucosa. Small bowel involvement appeared to be independent of the duration and severity of skin disease, and the deposition of immunoglobulin and complement (C3) in the dermal papillae of skin adjacent to skin lesions.
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PMID:Factors influencing small bowel changes in dermatitis herpetiformis. 27 Sep 84

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase (TP). Allogeneic hematopoietic stem cell transplantation (HSCT) has been proposed as a treatment for patients with MNGIE and a standardized approach to HSCT in this condition has recently been developed. We report on the transplant course, management and short-term follow-up in two MNGIE patients who underwent HSCT. The source of stem cells was bone marrow taken from an HLA 9/10 allele-matched unrelated donor in the first patient and from an HLA 10/10 allele-matched sibling donor in the second. Both patients achieved full donor chimerism, and we observed restoration of buffy coat TP activity and lowered urine nucleoside concentrations in both of them. The post-transplant clinical follow-up showed improvement in gastrointestinal dysmotility, abdominal cramps and diarrhea. Neurological assessment remained unchanged. However, the first patient died 15 months after HSCT due to gastrointestinal obstruction and shock; the second patient died 8 months after the procedure due to respiratory distress following septic shock. Although HSCT corrects biochemical abnormalities and improves gastrointestinal symptoms, the procedure can be risky in subjects already in poor medical condition as are many MNGIE patients. Since transplant-related morbidity and mortality increases with progression of the disease and number of comorbidities, MNGIE patients should be submitted to HSCT when they are still relatively healthy, in order to minimize the complications of the procedure. Anyway, there is still incomplete knowledge on the natural history of the disease in many affected patients and it is not yet clear when the best time to do a transplant is. Further clues to the therapeutic potential of HSCT could result from a prolonged observation in a greater number of non-transplanted and transplanted patients, which would allow us to answer the questions of if, how and when MNGIE patients require HSCT treatment.
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PMID:Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. 2271 Nov 61