Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042961 (volvulus)
 4,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have recently performed living-related small bowel transplantation for 2 patients. The first patient was a 14-year-old boy with total parenteral nutrition (TPN)-dependent short-bowel syndrome associated with hypoganglionosis of the entire intestine. He received a bowel graft from his 43-year-old mother. The second patient was a 27-year-old woman, who had massive enterectomy due to volvulus and developed vitamin deficiencies and severe metabolic disorders as a result of long-term TPN. She underwent living-related bowel transplantation from her 57-year-old mother. Blood types were ABO identical, cytotoxic cross matches were negative, and cytomegalovirus statuses were positive-to-positive in both cases. Up to one third of the donor bowel was harvested from the donor distal ileum more than 30 cm away from the ileocecal valve. The graft vessels were connected to infrarenal aorta, and inferior vena cava. The immunosuppressive regimen consisted of daclizumab, tacrolimus, and steroid. The graft surveillance was accomplished using zoom endoscopy and mucosal biopsy. The first patient developed progressive acute cellular rejection (ACR) on the 9th postoperative day (POD)-9 requiring OKT-3 therapy, which was effective. Two months after transplantation, he was weaned from TPN, tolerating oral intake with a fully functioning graft. The second patient experienced no episode of ACR and was weaned off TPN on POD-29 with a functioning graft. Her metabolic disorder dramatically improved after bowel transplantation. Both donors had no complication and were discharged from the hospital on POD-10. Living-related bowel transplantation is an extreme option of treatment for patients with short-bowel syndrome.
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PMID:Living-related small bowel transplantation: two cases experiences. 1584 27

We recently performed living-related small bowel transplant in two patients. The first patient was a 14-year-old boy with total parenteral nutrition (TPN)-dependent short-bowel syndrome associated with hypoganglionosis. He received a bowel graft from his 43-year-old mother. The second patient was a 27-year-old female who had undergone massive enterectomy due to volvulus. She underwent living-related bowel transplantation from her 57-year-old mother. In both cases, blood types were ABO identical, cytotoxic cross matches were negative, and cytomegalovirus status was positive to positive in both cases. Up to one third of the donor bowel was harvested from the distal ileum. The graft vessels were connected to infrarenal aorta and inferior vena cava. The immunosuppressive regimen consisted of daclizumab, tacrolimus, and steroids. The first patient developed progressive acute cellular rejection on postoperative day 9, requiring OKT-3 therapy. Two months after transplantation, he was weaned off TPN, tolerating oral intake with a fully functioning graft. The second patient was weaned off TPN on day 29 with a functioning graft. Her metabolic disorder dramatically improved. This patient developed indeterminate acute cellular rejection on day 111, which was successfully treated with bolus injections of steroid. Both donors had no complications; they were discharged on day 10. Living-related intestinal transplantation can be a treatment option for patients with short-bowel syndrome.
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PMID:Two cases of living-related intestinal transplantation. 1690 48

Congenital hyperinsulinism (CHI) is a rare glucose metabolism disorder characterized by unregulated secretion of insulin leading to hyperinsulinemic hypoglycemia (HH). Most cases are caused by mutations in the KATP-channel genes ABCC8 and KCNJ11. We report two patients with severe HH from the first day of life. Patient 1 developed midgut volvulus after initiating diazoxide and required intestinal resection. He was subsequently managed with high-dose octreotide and glucose enriched diet. Consistent with diffuse type CHI by 18F-DOPA-PET/CT, genetic testing revealed a homozygous ABCC8 variant, c.1801G>A, p.(Val601Ile). The rare variant was previously reported to be diazoxide-responsive and the patient responded well to diazoxide monotherapy with clinical remission at two years of age. Patient 2 responded to diazoxide with spontaneous clinical remission at 15 months of age. However, an oral glucose tolerance test at seven years of age revealed hyperinsulinism. Genetic testing revealed the proband and several seemingly healthy family members harbored a novel, heterozygous ABCC8 variant, c.1780T>C, p.(Ser594Pro). Genetic findings identified previously unrecognized HH in the proband.
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PMID:Congenital Hyperinsulinism: Two case reports with different rare variants in ABCC8. 3287 44