Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors present three cases of infants born with myelodysplasia. Each infant underwent closure of a myelomeningocele and within 2 to 4 days placement of a ventriculoperitoneal (VP) shunt. In each case, on opening the peritoneal cavity, the authors observed egress of a dark or creamy dark fluid. None of the patients had a history of abdominal birth trauma. The decision was made to continue the procedures and send samples of the unusual fluids to the laboratory for culture and analysis. The cultures proved to be nondiagnostic and the characteristics of the fluid samples were most consistent with those of blood-tinged chyle. The authors hypothesize that, occasionally, the mechanical tautness that is created with repair of myelomeningoceles is sufficient to rupture small lymphatic vessels and accompanying blood vessels of the abdomen. An alternative hypothesis is that abdominal compression due to closure of the myelomeningocele may temporarily compress the liver, leading to raised intraportal pressures and resulting in weeping of chyle from the gastrointestinal tract. This abnormal fluid accumulation did not lead to chronic ascites, VP shunt infection, or dysfunction at long-term follow-up examination and abdominal visceral function has not been an issue.
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PMID:Unusual findings during abdominal placement of a ventriculoperitoneal shunt: report of three cases. 1592 96

Recent work has established that heterozygous germline GATA2 mutations predispose carriers to familial myelodysplastic syndrome (MDS)/acute myeloid leukemia (AML), "MonoMAC" syndrome, and DCML deficiency. Here, we describe a previously unreported MDS family carrying a missense GATA2 mutation (p.Thr354Met), one patient with MDS/AML carrying a frameshift GATA2 mutation (p.Leu332Thrfs*53), another with MDS harboring a GATA2 splice site mutation, and 3 patients exhibiting MDS or MDS/AML who have large deletions encompassing the GATA2 locus. Intriguingly, 2 MDS/AML or "MonoMAC" syndrome patients with GATA2 deletions and one with a frameshift mutation also have primary lymphedema. Primary lymphedema occurs as a result of aberrations in the development and/or function of lymphatic vessels, spurring us to investigate whether GATA2 plays a role in the lymphatic vasculature. We demonstrate here that GATA2 protein is present at high levels in lymphatic vessel valves and that GATA2 controls the expression of genes important for programming lymphatic valve development. Our data expand the phenotypes associated with germline GATA2 mutations to include predisposition to primary lymphedema and suggest that complete haploinsufficiency or loss of function of GATA2, rather than missense mutations, is the key predisposing factor for lymphedema onset. Moreover, we reveal a crucial role for GATA2 in lymphatic vascular development.
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PMID:Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. 2214 95