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)

A comprehensive approach to diagnosis of patients with lissencephaly using clinical, CT and MRI scan, and sometimes other laboratory data will allow a specific diagnosis to be made in a large majority of patients. The most common diagnoses in order of decreasing frequency will probably prove to be WWS, MDS, and ILS. The remainder constitute a heterogeneous group. Both diagnosis and counseling have been modified by several recent and important advances. Diagnostic criteria for WWS have been revised. Several molecular probes have been located within the MDS critical region in chromosome band 17p13.3. Prenatal diagnosis should prove to be reliable in both WWS and MDS.
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PMID:The neurogenetics of lissencephaly. 264 23

Detailed clinical, pathological, and cytogenetic investigations of patients with lissencephaly over the past several years have demonstrated the existence of at least eight distinct conditions with variable genetic implications. In several of these disorders, especially chromosomally normal MDS, ILS, and CCL, too few patients have been reported to permit citation of accurate recurrence risk figures. Accordingly, we wish to begin a registry of patients with lissencephaly of all types for the purpose of developing such risk figures and request that any available information be sent to one of us (W.B.D. or J.M.O.).
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PMID:Further comments on the lissencephaly syndromes. 390 51

To evaluate the hematologic effects of recombinant human interleukin-6 (rhIL-6, Escherichia coli, SDZ ILS 969, IL-6), and determine its toxicity profile, we performed a phase I trial of IL-6 in 22 patients with various myelodysplastic syndromes (MDS), platelet counts < 100,000/microL, and < 5% bone marrow (BM) blasts. Patients received one of four doses of IL-6 (1.0, 2.5, 3.75, and 5.0 micrograms/kg/d) as a subcutaneous injection on day 1, followed by a 7-day wash-out period, and then 28 days of IL-6 therapy. Dose-limiting toxicities of fatigue, fever, and elevated alkaline phosphatase were seen at 5.0 micrograms/kg/d; the maximum tolerated dose was 3.75 micrograms/kg/d. All patients experienced at least grade II fever and all had an increase in acute phase proteins. Eight patients (36%) experienced at least a transient improvement in platelet counts; three fulfilled the criteria for response, whereas five others had clinically significant increases that failed to meet response criteria. Various IL-6-related toxicities prevented more than three patients from receiving maintenance therapy. Two of the three patients who received maintenance IL-6 therapy had a persistent increase in platelet counts, during 3 and 12 months of IL-6 therapy, respectively. Laboratory studies indicated that IL-6 increased the frequency of higher ploidy megakaryocytes but did not significantly increase the number of assayable megakaryocytic progenitor cells, suggesting that IL-6 acts as a maturational agent rather than a megakaryocyte colony-stimulating factor. Although IL-6 therapy can promote thrombopoiesis in some MDS patients, its limited activity and significant therapy-related toxicity preclude its use as a single agent in this patient population. Further studies, combining low doses of IL-6 with other hematopoietic growth factors, are underway.
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PMID:A phase I trial of recombinant human interleukin-6 in patients with myelodysplastic syndromes and thrombocytopenia. 753 15

Classical lissencephaly is a severe human neuronal migration disorder characterized by a smooth cerebral surface and a paucity of gyri. Isolated lissencephaly sequence (ILS, OMIM 601545) and Miller-Dieker syndrome (MDS, OMIM 247200) are human malformation syndromes characterized by classical lissencephaly. MDS and some cases of ILS are caused by haploinsufficiency at chromosome 17p13.3. Recent evidence suggests that mutations or deletions of the LIS1 gene, within band 17p13.3, are responsible for classical lissencephaly. LIS1 codes for a subunit of platelet-activating factor acetylhydrolase isoform 1b (PAFAH1B1 or LIS1). To investigate the pathophysiological mechanisms responsible for these two developmental defects, we have undertaken strategies to model these neuronal migration disorders in the mouse. We present a brief review of MDS and ILS, several mouse mutants with cortical neuronal migration defects, and our strategies to model ILS and MDS in the mouse.
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PMID:Murine modelling of classical lissencephaly. 1036 82

Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 deletion syndrome (DiGeorge syndrome or velocardiofacial syndrome) are known to have congenital cardiac malformations (in particular conotruncal defects), palatal abnormalities (especially velopharyngeal insufficiency), hypocalcemia, immune deficiency, learning disabilities, and characteristic facial features. This case report describes phenotypic characteristics of a patient with extremely rare instance of having both MDS and 22q11.2 deletion syndrome that is unique in the medical literature. Prognosis in this concurrent phenotype is poor with our patient suffering from several malformations seen in both conditions and expiring in the neonatal period.
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PMID:A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome. 2761 33