Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis

AbstractBackgroundThe aim of this study was characterization of an updated distribution of CFTR mutations in a representative cohort of 40 CF patients with the classical form of the disease drawn from Eastern Hungary. Due to the homogeneity of the Hungarian population our data are generally applicable to other regions of the country, including the sizeable diaspora.MethodsWe utilized the recommended “cascade” CFTR mutation screening approach, initially using a commercial assay, followed by examination of the common “Slavic” deletion CFTRdele2,3(21kb). Subsequently, the entire CFTR coding region of the CFTR gene was sequenced in patients with yet unidentified mutations.ResultsThe Elucigene CF29Tm v2 assay detected 81.25% of all CF causing mutations. An addition of the CFTRdele2,3(21kb) increased the mutation detection rate to 86.25%. DNA sequencing enabled us to identify mutations on 79/80 CF alleles. Mutations [CFTRdele2,3(21kb), p.Gln685ThrfsX4 (2184insA) were found at an unusually high frequency, each comprising 5.00% of all CF alleles.ConclusionWe have identified common CF causing mutations in the Hungarian population with the most common mutations (p.Phe508del, p.Asn1303Lys, CFTRdele2,3(21kb), 2184insA, p.Gly542X, and p.Leu101X), comprising over 93.75% of all CF alleles. Obtained data are applicable to the improvement of DNA diagnostics in Hungary and beyond, and are the necessary prerequisite for the introduction of a nationwide “two tier” CF newborn screening program

Zbornik prac Slovenskeho hydrometeorologickeho ustavu

Short abstracts in EnglishAvailable from Slovak Centre of Scientific and Technical Information, under shelf-number: A583306 / Slovenska Technicka Univerzita v BratislaveSIGLESKSlovak Republi

Development of evapotranspiration and water supply of clay-loamy soil on the East Slovak Lowland

With regard to optimization of the factors of field crop harvest formation in semi-arid areas the phenomenon of soil drought is of key importance. This article deals with the problem of soil water management in connection to soil fertility in the area of East Slovakian Lowland, characterized by the complexity of its agro-ecologic conditions. In clay-loamy soils of the corresponding area, soil water content at the level limited by the threshold point and field water capacity ensures that the average value of actual evapotranspiration intensity varies between 2.69 and 3.89 mm per day-1. Time development of soil water storage and evaporation deficit depends on optimized system of soil water management necessary for plant production.The East Slovak Lowland Semi-arid region Evapotranspiration deficit Critical soil moisture

Analysis of Outcomes in Ischemic vs Nonischemic Cardiomyopathy in Patients With Atrial Fibrillation A Report From the GARFIELD-AF Registry

IMPORTANCE Congestive heart failure (CHF) is commonly associated with nonvalvular atrial fibrillation (AF), and their combination may affect treatment strategies and outcomes