Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0264733 (ventricular dilatation)
 2,163 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 30007) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of corpus callosum and mental retardation. We confirm here the localisation of the mutant gene on Xq (Xq 2.8) by linkage analysis in a 5-generation pedigree (maximum lod score of Z = 4.57 at theta = 0.04 with probe St14 at locus DXS52) and emphasise the phenotypic variability of the disease. Ventricular dilatation in affected males was either severe and diagnosed antenatally or moderate and consistent with a long survival with little or no macrocephaly. Since other X-linked syndromes of mental retardation with spasticity and flexion deformities of the thumbs have previously been shown to map to the Xq 2.8 region as well (e.g. MASA syndrome and spastic paraplegia), the present results raise the question of whether H-SAS syndrome, MASA syndrome and spastic paraplegia with mental retardation might represent different phenotypic expression of various mutations at the same locus.
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PMID:X-linked hydrocephalus: clinical heterogeneity at a single gene locus. 139 13

18 neonates with bacteriologically confirmed Flavobacterium meningitis and ventriculitis were treated with various antibiotic regimens, including the use of intraventricular antibiotics. During the course of treatment, four patients died. 8/14 patients developed progressive hydrocephalus which required insertion of ventriculo-peritoneal shunts. The remainder 6/14 patients had normal ventricles or only mild ventriculomegaly. 5/8 patients with progressive hydrocephalus and 5/6 patients with normal or mildly dilated ventricles were followed up for at least 24 months. 4/5 of the patients with progressive hydrocephalus had severe bilateral hearing loss and delayed milestones. All the 5 patients with normal or mildly dilated ventricles had normal hearing although 2 of them had gross motor delay due to spastic paraplegia. Patients with progressive hydrocephalus received effective antibiotic treatment more than 8 days after the onset of infection while those with normal or mildly dilated ventricles within 8 days of infection. Onset of ventricular dilatation was associated with ventriculitis. Daily ultrasound scanning of the ventricles in the early stage helped to determine the need for early instillation of intraventricular antibiotics. Combined use of intravenous rifampicin, moxalactam and piperacillin showed promise as an effective antibiotic regimen in treating patients with normal or mildly dilated ventricles. Once significant ventriculomegaly has occurred, concomitant intravenous and intraventricular administration of antibiotics, to which the organisms were sensitive, was necessary to eradicate the infection.
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PMID:Management of Flavobacterium meningitis in the neonates: experience with 18 consecutive cases. 260 78