CFTR mutations of patients with cystic fibrosis from Republic of Moldova

Departamentul de pediatrie, clinica de pneumologie, Universitatea de Stat de Medicină și Farmacie „Nicolae Testemiţanu”, Chișinău, Republica Moldova, Universitäts-Kinderklinik, Johann-Wolfgang-Goethe Universität, Frankfurt am Main, Germania, Service de génétique médicale, CHU de Bordeaux, Groupe Hospitalier Pellegrin, Bordeaux, Franţa, Klinische Forschergruppe‚ Molekulare Pathologie der Mukoviszidose, Klinik für Pädiatrische Pneumologie, Allergologie und Neonatologie, Medizinische Hochschule Hannover, Germania, ViennaLab Diagnostics GmbH, Wien, AustriaIntroducere. Spectrul de mutaţii ce cauzează fibroză chistică (FC) în Republica Moldova, deocamdată, nu a fost determinat. Material și metode. Analiza mutaţiei genei CFTR a fost efectuată pe mostre de ADN, colectate de la 61 de pacienţi cu FC, examinaţi în Departamentul de pediatrie, clinica de pneumologie, Universitatea de Stat de Medicină și Farmacie „Nicolae Testemiţanu”, în perioada anilor 2006-2011.Rezultate. Mutaţiile cu o frecvenţă mai mare de 3% au fost următoarele: F508del (57%), 2789+5 G-A (4%), 2184insA (4%) și G542X (3%). Concluzii. Distribuţia mutaţiei genei CFTR în Moldova este similară cu cea din România.Introduction. The spectrum of cystic fibrosis (CF) – cau-sing mutations in Republic of Moldova has yet not been determined. Material and methods. CFTR gene mutation analysis was performed on DNA samples from 61 patients with CF seen 2006-2011 at the Department of pediatrics, Division of pneumology, Nicolae Testemitanu State Medical and Pharmaceutical University. Results. Mutations with a frequency of more than 3% were F508del (57%), 2789+5 G-A (4%), 2184insA (4 %) and G542X (3%). Conclusions. The distribution of CFTR gene mutations in Moldova is similar to that in Romania.https://stiinta.usmf.md/sites/default/files/2018-09/MJHS%20nr.%203%20_2015.pd

Электропривод переменного тока насоса Д200/36 подачи питьевой воды

Цель выпускной квалификационной работы - проектирование асинхронного электропривода центробежного насоса. Выпускная квалификационная работа выполнена с помощью программ MATLAB, Mathcad 14, MS Excel в текстовом редакторе MS Word и представлена на компакт - диске (в конверте на обороте обложки).The purpose of final qualifying work is the design of the asynchronous electric drive of centrifugal pump.Final qualifying work is done using MATLAB software, Mathcad 14, MS Excel to MS Word text editor and presented on the CD - ROM (in an envelope on the back cover)

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

Abstract Background Monogenic autoinflammatory diseases are caused by pathogenic variants in genes that regulate innate immune responses, and are characterized by sterile systemic inflammatory episodes. Since symptoms can overlap within this rapidly expanding disease category, accurate genetic diagnosis is of the utmost importance to initiate early inflammation-targeted treatment and prevent clinically significant or life-threatening complications. Initial recommendations for the genetic diagnosis of autoinflammatory diseases were limited to a gene-by-gene diagnosis strategy based on the Sanger method, and restricted to the 4 prototypic recurrent fevers (MEFV, MVK, TNFRSF1A, and NLRP3 genes). The development of best practices guidelines integrating critical recent discoveries has become essential. Methods The preparatory steps included 2 online surveys and pathogenicity annotation of newly recommended genes. The current guidelines were drafted by European Molecular Genetics Quality Network members, then discussed by a panel of experts of the International Society for Systemic Autoinflammatory Diseases during a consensus meeting. Results In these guidelines, we combine the diagnostic strength of next-generation sequencing and recommendations to 4 more recently identified genes (ADA2, NOD2, PSTPIP1, and TNFAIP3), nonclassical pathogenic genetic alterations, and atypical phenotypes. We present a referral-based decision tree for test scope and method (Sanger versus next-generation sequencing) and recommend on complementary explorations for mosaicism, copy-number variants, and gene dose. A genotype table based on the 5-category variant pathogenicity classification provides the clinical significance of prototypic genotypes per gene and disease. Conclusions These guidelines will orient and assist geneticists and health practitioners in providing up-to-date and appropriate diagnosis to their patients

The performance of a commercial radioligand binding assay for the epidermal growth factor receptor is comparable to the EORTC standard assay

Contains fulltext : 21334___.PDF (publisher's version ) (Open Access

Very low frequency of the lactase persistence allele LCT-13910T in the Armenian population

Primary lactose malabsorption is characterised by a down-regulation of lactase activity after weaning and inability to digest lactose in adulthood. It has been suggested that the historical introduction of dairying led to a positive selection for lactase persistence variants in a regulatory region upstream of the LCT gene. Here, we genotyped 202 Armenian subjects for LCT-13910T, a lactase persistence variant which is widespread in Europeans. The homozygous C/C genotype associated with primary hypolactasia, the heterozygous C/T and the homozygous T/T lactase persistence genotypes were found in 191 (94.6%), 11 (5.4%), and 0 (0.0%) samples, respectively. The frequency for the LCT-13910*T allele was 2.7%. The observed allele frequency of 2.7% for LCT-13910T is even lower than previously reported and supports current phenotypic data about lactose malabsorption in Armenia