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)

Sclerosing peritonitis is a rare complication of peritoneal dialysis (PD). In encapsulating peritoneal sclerosis (EPS), the most severe form of the disease, the intestine is entrapped in a fibrous tissue, causing intestinal obstruction. Patients are typically seriously ill, with evidence of infection and requirement for parenteral nutrition. A mortality rate of 73% has been reported. There is no established medical treatment and surgery has offered variable results. Our unit provides renal replacement therapy for a population of about 2 million. The prevalent population of PD patients averages 110. The cumulative PD population since January 1993 is 643, with an EPS prevalence of 0.6%. Influenced by the first case reported by Allaria in 1999 suggesting benefit of tamoxifen in treating EPS, we have treated with tamoxifen the four consecutive cases of EPS that have presented since 1999. All 4 patients have survived and recovered intestinal function. ALL showed prior evidence of peritoneal dysfunction with ultrafiltration failure and were characterized by long duration of PD therapy rather than multiple episodes of peritonitis. We conclude that tamoxifen is a highly promising therapy in EPS, hitherto a usually fatal condition. This description of its efficacy in acutely ill patients with EPS complements its possible prophylactic use in patients with the earlier and milder disease, sclerosing peritonitis. A high index of clinical suspicion for sclerosing peritonitis is desirable, perhaps facilitated by routine screening of at-risk patients.
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PMID:Four consecutive cases of peritoneal dialysis-related encapsulating peritoneal sclerosis treated successfully with tamoxifen. 1662 21

Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities to very mild symptoms. Both benign and malignant hematological entities are rare. A male patient was diagnosed with mild facial dysmorphia, congenital heart anomalies shortly after birth and acute bowel obstruction due to malrotation of the intestine at the age of 3 years. A whole-genome single nucleotide polymorphism (SNP) array revealed a de novo 6.6 Mb duplication in the 22q11.1q11.22 chromosomal region. A year later, the patient was diagnosed with acute pre-B lymphoblastic leukemia (pre-B ALL). Five genes, CDC45, CLTCL1, DGCR2, GP1BB and SEPT5, in the 22q11.1q11.22 region are potentially responsible for cell cycle division. We hypothesized that dosage imbalance of genes implicated in the rearrangement could have disrupted the balance between cell growth and differentiation and played a role in the initiation of malignancy with a hyperdiploid leukemic clone, whereas over-expression of the TBX1 gene might have been responsible for congenital heart defects and mild facial dysmorphia.
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PMID:Acute Pre-B Lymphoblastic Leukemia and Congenital Anomalies in a Child with a de Novo 22q11.1q11.22 Duplication. 3042 17