Twenty-eight enterotoxin H-positive Staphylococcus aureus strains isolated from food samples collected in eleven districts of the Czech Republic between 2000 and 2005 were genotypically characterized by pulsed-field gel electrophoresis (PFGE) profiling, spa gene polymorphism analysis, enterobacterial repetitive intergenic consensus sequence-based PCR (ERIC-PCR) fingerprinting and prophage carriage detection. These strains accounted for about 21% of the food-derived, staphylococcal enterotoxin (SE)-positive isolates. One strain, detected in feta cheese, was implicated in a case of enterotoxinosis. Sixteen of the twenty-eight isolates carried the seh gene alone. The remaining twelve strains harbored the seh gene in combination with other enterotoxin genes, most often the seg and sei genes, followed by the sea, seb, sec and sed genes. Comparison of various genomic profiles resulted in the determination of twenty genotypes designated G-1 to G-20. Two new, to date not defined, spa types (t2000 and t2002) were identified in one strain isolated from raw meat and two strains obtained from prepacked pizza. Evidence has been given that the seh-positive S. aureus isolates from foodstuffs did not originate from a single source or a common ancestor.

• MeSH
• DNA bakterií analýza   MeSH
• DNA fingerprinting MeSH
• enterotoxiny genetika   izolace a purifikace   klasifikace   MeSH
• financování organizované MeSH
• genotyp MeSH
• kontaminace potravin analýza   MeSH
• lidé MeSH
• polymorfismus genetický MeSH
• potravinářská mikrobiologie MeSH
• pulzní gelová elektroforéza MeSH
• stafylokoková otrava přenesená potravou mikrobiologie   prevence a kontrola   MeSH
• Staphylococcus aureus genetika   izolace a purifikace   klasifikace   MeSH
• Check Tag
• lidé MeSH
• Geografické názvy
• Česká republika MeSH

OBJECTIVE: 18q deletion syndrome is a multiple-anomaly mental retardation syndrome associated with congenital aural atresia. The purpose of this study was to determine the frequency of the congenital aural atresia phenotype in 18q deletion syndrome patients and to delineate a potential critical region for congenital aural atresia at the 18q22.3-18q23 region. STUDY DESIGN AND PATIENTS: The study describes one 18q deletion syndrome clinical report (Patient 15) with an overview of 19 other selected 18q deletion syndrome patients presenting congenital aural atresia from 18 published articles and one presented poster on 18q deletion syndrome. RESULTS: Our investigation, together with the results of published 18q deletion syndrome reports, shows that the average frequency of congenital aural atresia is approximately 52%. A combination of three 18q deletion syndrome probands defines a chromosomal deletion site for congenital aural atresia at 18q22.3-18q23 in the region between markers D18S489 and D18S554. These polymorphic markers outline a putative critical interval of approximately 2.3 Mb, including the genes ZNF407, ZADH2, SDCCAG33, ZNF516, FLJ44881, ZNF236, MBP-Golli, and GALR1. The haploinsufficiency of these genes is suggested to be a primary cause of congenital aural atresia phenotype in 18q deletion syndrome individuals. CONCLUSION: Congenital aural atresia is a relevant diagnostic clue and a major recognizable feature of 18q deletion syndrome. Early diagnosis of 18q deletion syndrome may enable application of hearing aids. Knockout studies on the congenital aural atresia mouse gene homolog may add further insight into the genes responsible for this condition.

• MeSH
• chromozomální delece * MeSH
• fenotyp MeSH
• hybridizace in situ fluorescenční MeSH
• karyotypizace MeSH
• kojenec MeSH
• lidé MeSH
• lidské chromozomy, pár 18 * MeSH
• mapování chromozomů MeSH
• převodní nedoslýchavost genetika   vrozené   MeSH
• sluchový práh MeSH
• syndrom MeSH
• zvukovod * abnormality   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH

In a 7-year-old boy with normal hearing suffering from repeated syncope an extremely prolonged QTc interval (up to 700 ms) was found. The mother was completely asymptomatic and the father had an intermittently borderline QTc interval (maximum 470 ms) but no symptoms. In the proband a mutation analysis of KCNQ1 gene revealed a homozygous 1893insC mutation. The parents were heterozygous for this mutation. There was no consanguineous marriage in the family. The clinical relevance of these findings is that apparently normal individuals may have a latent reduction of repolarizing currents, a "reduced repolarization reserve," because they are carriers of latent ion channel genes mutations.

• MeSH
• dítě MeSH
• draslíkový kanál KCNQ1 * genetika   MeSH
• elektrokardiografie metody   MeSH
• genetická predispozice k nemoci genetika   MeSH
• geny recesivní * genetika   MeSH
• heterozygot MeSH
• jednonukleotidový polymorfismus genetika   MeSH
• lidé MeSH
• molekulární sekvence - údaje MeSH
• mutace MeSH
• Romanův-Wardův syndrom * diagnóza   genetika   MeSH
• sekvence nukleotidů MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• kazuistiky MeSH
• práce podpořená grantem MeSH