Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0262471 (ENT)
 5,307 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The ciliopathies are an expanding group of disorders caused by mutations in genes implicated in the biogenesis and function of primary cilia. Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity, polydactyly, cognitive impairment, kidney anomalies and hypogonadism. Mutations in SDCCAG8(NPHP10) were described recently in patients with nephronophthisis and retinal degeneration (Senior-Loken syndrome; SLS). Given the phenotypic and genetic overlap between known ciliopathy genes, we hypothesized that mutations in SDCCAG8 might also contribute alleles to more severe, multisystemic ciliopathies. We performed genetic and phenotypic analyses of 2 independent BBS cohorts. Subsequent to mutation screening, we made a detailed phenotypic analysis of 5 families mutated for SDCCAG8 (3 homozygous and 2 compound heterozygous mutations) and conducted statistical analyses across both cohorts to examine possible phenotype-genotype correlations with mutations at this locus. All patients with mutations in SDCCAG8 fulfilled the diagnostic criteria for BBS (retinal degeneration, obesity, cognitive defects, renal failure, hypogonadism). Interestingly, none of the patients with primary SDCCAG8 mutations had polydactyly, a frequent but not obligatory BBS feature. In contrast, the same patients displayed early-onset renal failure, obesity, as well as recurrent pulmonary and ENT infections. Comparison of the phenotypes of these families with our entire BBS cohort indicated that renal impairment and absent polydactyly correlated significantly with causal SDCCAG8 mutations. Thus, SDCCAG8 mutations are sufficient to cause BBS in 1-2% of our combined cohorts, and define this gene as the sixteenth BBS locus (BBS16). The absence of polydactyly and the concomitant, apparently fully penetrant association with early kidney failure represents the first significant genotype-phenotype correlation in BBS that potentially represents an indicator for phenotype-driven priority screening and informs specific patient management.
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PMID:Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 2219 Aug 96

The prevalence and characteristics of right heart endocarditis in Africa are not well known. The aim of this study was to describe the epidemiological, clinical and laboratory profiles of patients with right-heart infective endocarditis. This was a 10-year retrospective study conducted in 2 cardiology departments in Dakar, Senegal. All patients who met the diagnosis of right heart infective endocarditis according to the Duke's criteria were included. We studied the epidemiological, clinical as well as their laboratory profiles. There were 10 cases of right-heart infective endocarditis representing 3.04% of cases of infective endocarditis. There was a valvulopathy in 3 patients, an atrial septal defect in 1 patient, parturiency in 2 patients and the presence of a pacemaker in one patient. Anaemia was present in 9 patients whilst leukocytosis in 6 patients. The port of entry was found to be oral in three cases, ENT in one case and urogenital in two cases. Apart from one patient with vegetations in the tricuspid and pulmonary valves, the rest had localized vegetation only at the tricuspid valve. However, blood culture was positive in only three patients. There was a favorable outcome after antibiotic treatment in 4 patients with others having complications; three cases of renal impairment, two cases of heart failure and one case of pulmonary embolism. There was one mortality. Right heart infective endocarditis is rare but associated with potentially fatal complications.
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PMID:Right-heart infective endocarditis: a propos of 10 cases. 2695 43