BACKGROUND: Restless legs syndrome (RLS) is associated with common variants in three intronic and intergenic regions in MEIS1, BTBD9, and MAP2K5/LBXCOR1 on chromosomes 2p, 6p and 15q. METHODS: Our study investigated these variants in 649 RLS patients and 1230 controls from the Czech Republic (290 cases and 450 controls), Austria (269 cases and 611 controls) and Finland (90 cases and 169 controls). Ten single nucleotide polymorphisms (SNPs) within the three genomic regions were selected according to the results of previous genome-wide scans. Samples were genotyped using Sequenom platforms. RESULTS: We replicated associations for all loci in the combined samples set (rs2300478 in MEIS1, p = 1.26 x 10(-5), odds ratio (OR) = 1.47, rs3923809 in BTBD9, p = 4.11 x 10(-5), OR = 1.58 and rs6494696 in MAP2K5/LBXCOR1, p = 0.04764, OR = 1.27). Analysing only familial cases against all controls, all three loci were significantly associated. Using sporadic cases only, we could confirm the association only with BTBD9. CONCLUSION: Our study shows that variants in these three loci confer consistent disease risks in patients of European descent. Among the known loci, BTBD9 seems to be the most consistent in its effect on RLS across populations and is also most independent of familial clustering.

• MeSH
• dospělí MeSH
• frekvence genu MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• homeodoménové proteiny genetika   MeSH
• jednonukleotidový polymorfismus * MeSH
• korepresorové proteiny MeSH
• lidé středního věku MeSH
• lidé MeSH
• MAP kinasa-kinasa 5 genetika   MeSH
• nádorové proteiny genetika   MeSH
• odds ratio MeSH
• proteiny nervové tkáně MeSH
• represorové proteiny genetika   MeSH
• senioři MeSH
• syndrom neklidných nohou genetika   MeSH
• transkripční faktor Meis1 MeSH
• transkripční faktory genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Finsko MeSH
• Rakousko MeSH

Short-term effects of air pollution (consisting primarily of sulphur dioxide and particulate matter but with low acidity) on respiratory morbidity were studied in asthmatic children from Sokolov, Czech Republic. Eighty nine children with asthma, who recorded daily peak expiratory flow measurements, symptoms and medication use in a diary, were analysed for 7 months during the winter of 1991-1992. Air pollution measurements included: SO2, total suspended particulates (TSPs), inhalable particles, ie. particulate matter of aerodynamic diameter < or = 10 microm, particle strong acidity (PSA) and fine particle sulphate concentration (SO4). Linear and logistic regression analyses estimated the impact of air pollutants adjusted for trend, temperature and weekend and autocorrelated errors. Exposure to elevated levels of air pollution was associated with decreased peak expiratory flow rates, increased respiratory symptoms, increased prevalence of school absence and fever, and increased medication use. Prolonged exposure to particle SO4 showed the largest effect estimates. At the end of January, an air pollution episode occurred, during which respiratory symptoms, prevalence of fever, school absence and asthma medication increased. The association between respiratory symptoms and particulate SO4 was highly dependent on this episode, whilst the associations between lung function and SO4 as well as between fever and SO4 were still observed when this air pollution episode was excluded. Some evidence was found that exposure to air pollution might have enhanced the respiratory symptoms while children were experiencing respiratory infections. In this study, a panel of children with mild asthma experienced small decreases in peak expiratory flow and increased dyspnoea in association with fine particles formed during air pollution episodes.

• MeSH
• bronchiální astma epidemiologie   etiologie   patofyziologie   MeSH
• časové faktory MeSH
• dítě MeSH
• dyspnoe epidemiologie   etiologie   MeSH
• incidence MeSH
• infekce dýchací soustavy epidemiologie   etiologie   MeSH
• látky znečišťující vzduch škodlivé účinky   MeSH
• lidé MeSH
• lineární modely MeSH
• logistické modely MeSH
• mladiství MeSH
• průzkumy a dotazníky MeSH
• respirační funkční testy MeSH
• velikost částic MeSH
• vrcholová exspirační průtoková rychlost * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

Previous controlled studies have indicated that asthma medication modifies the adverse effects of sulfur dioxide (SO2) on lung function and asthma symptoms. The present report analyzed the role of medication use in a panel study of children with mild asthma. Children from Sokolov (n = 82) recorded daily peak expiratory flow (PEF) measurements, symptoms, and medication use in a diary. Linear and logistic regression analyses estimated the impact of concentrations of sulfate particles with diameters less than 2.5 microns, adjusting for linear trend, mean temperature, weekend (versus weekday), and prevalence of fever in the sample. Fifty-one children took no asthma medication, and only 31 were current medication users. Most children were treated with theophylline; only nine used sprays containing beta-agonist. For the nonmedicated children, weak associations between a 5-day mean of sulfates and respiratory symptoms were observed. Medicated children, in contrast, increased their beta-agonist use in direct association with an increase in 5-day mean of sulfates, but medication use did not prevent decreases in PEF and increases in the prevalence of cough attributable to particulate air pollution. Medication use was not a confounder but attenuated the associations between particulate air pollution and health outcomes.

• MeSH
• antiastmatika terapeutické užití   MeSH
• bronchiální astma farmakoterapie   etiologie   MeSH
• dítě MeSH
• látky znečišťující vzduch škodlivé účinky   MeSH
• lidé MeSH
• lineární modely MeSH
• logistické modely MeSH
• longitudinální studie MeSH
• mladiství MeSH
• monitorování životního prostředí * MeSH
• oxid siřičitý škodlivé účinky   MeSH
• vrcholová exspirační průtoková rychlost MeSH
• zdraví ve městech MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Česká republika MeSH

Acute effects of winter-type air pollution characterized by high levels of SO2, moderate levels of particles, and low acidity were studied. A panel of 155 asthmatic children and 102 adults with a history of asthma from the former German Democratic Republic cities of Erfurt and Welmar and from the Czech Republic city of Sokolov participated from September 1990 through June 1992. The panelists recorded daily symptoms, medication intake, and peak expiratory flow (PEF). Statistical analysis was based on linear regression of population-averaged time series controlling for trend, meteorology, and autocorrelation. A temporospatial time series approach was also applied to the data to eliminate possible confounding by some known or unknown variables that occurred simultaneously in two of the study areas. Weak same-day effects and a stronger cumulative effect of air pollution on children was observed both for PEF and for symptoms. PEF decreased -0.90% (-1.35 to -0.46%), and a symptom score increased 14.7% (0.8-28.6%) in association with an average increase of 128 micrograms/m3 SO2 over the previous 5 days. Effects on adults were smaller and less consistent. Morbidity of children was best predicted by SO2 and sulfate concentrations. The authors conclude that prolonged, high exposure to winter-type pollution was associated with small adverse health effects in asthmatics.

• MeSH
• aerosoly MeSH
• bronchiální astma chemicky indukované   epidemiologie   MeSH
• dítě MeSH
• dospělí MeSH
• látky znečišťující vzduch škodlivé účinky   analýza   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• oxid siřičitý škodlivé účinky   analýza   MeSH
• počasí MeSH
• regresní analýza MeSH
• roční období MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• vrcholová exspirační průtoková rychlost účinky léků   MeSH
• znečištění ovzduší škodlivé účinky   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Research Support, U.S. Gov't, P.H.S. MeSH
• Geografické názvy
• Česká republika MeSH
• Německo MeSH