Search results for "frequ"
showing 10 items of 2272 documents
Molecular analysis of sequence variants in the Fcepsilon receptor I beta gene and IL-4 gene promoter in Italian atopic families
2004
The genetic variants in the Fcepsilon receptor I beta gene (Glu237Gly) and the T allele of the (C590T) polymorphism of interleukin (IL)-4 gene promoter were reported to be associated with atopy. But the data of the studies in different populations are contrasting with one another.
Haplotypes of the caspase-1 gene, plasma caspase-1 levels, and cardiovascular risk.
2006
Caspase-1 processes the interleukin (IL)-1β and IL-18 inactive precursors to the biologically active cytokines that are known to have proatherogenic effects. The present study investigated the genetic variability of the CASP1 gene and plasma levels of caspase-1 in relation to cardiovascular risk. In Europeans, 3 tag SNPs captured 4 common haplotypes of the CASP1 gene. Among these, the A in6 allele of the G+7/in6A polymorphism was less frequent in 246 cases with myocardial infarction and a parental history of disease than in 253 controls free of familial history of disease (0.13±0.02 versus 0.20±0.02; P =0.005). However, in a larger case/control study (n=1774), these effects are borderline …
Human voice pitch measures are robust across a variety of speech recordings: methodological and theoretical implications
2021
Fundamental frequency ( f o ), perceived as voice pitch, is the most sexually dimorphic, perceptually salient and intensively studied voice parameter in human nonverbal communication. Thousands of studies have linked human f o to biological and social speaker traits and life outcomes, from reproductive to economic. Critically, researchers have used myriad speech stimuli to measure f o and infer its functional relevance, from individual vowels to longer bouts of spontaneous speech. Here, we acoustically analysed f o in nearly 1000 affectively neutral speech utterances (vowels, words, counting, greetings, read paragraphs and free spontaneous speech) produced by the same 154 men and women, ag…
Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants
2016
Background & Aim: Patients with Gaucher disease type 1 (GD1) show an altered lipid profile and a certain degree of insulin resistance, which might contribute to cholelithiasis (CL) and could possibly be associated with ABCG5/ABCG8 gene variants. We aimed to investigate the prevalence of CL in Caucasian adult patients with GD1 and the possible risk factors, including gene variants of the ABCG5/ABCG8 genes.
 Methods: 61 Caucasian patients with GD1 (38 female/23male), aged 18-62 years and 61 healthy subjects matched for age, gender and BMI, without CL, for comparison of lipid profiles. Data before start of enzyme replacement therapy (ERT) were recorded: clinical, haematological, sever…
Genotype and allele frequencies of isoniazid-metabolizing enzymes NAT2 and GSTM1 in Latvian tuberculosis patients
2016
Pharmacogenomic testing of tuberculosis drug-metabolizing enzyme genes was proposed as a strategy to identify patients at risk for suboptimal responses to medications. However, variations of the genotype frequencies among ethnic groups exist and new alleles are been identified. The aim of this study was to identify polymorphisms of genes encoding metabolic enzymes NAT2 and GSTM1 in tuberculosis patients in Latvia and to estimate the frequency of NAT2 slow acetylator and GSTM1 null genotypes. In total, 85 DNA samples were genotyped, all individuals were Caucasian. An ethnic heterogeneity reflecting the multiethnic population of the country was observed. 49 patients were Latvians, 30 were Rus…
Association of CYP2R1 rs10766197 with MS risk and disease progression
2017
Background MS is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Among these, vitamin D and genetic variants associated with vitamin D-metabolism gain great attention. The aim of our study was to assess five SNPs in NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in MS patients and controls. Methods 25-OH-vitamin D3 levels and genotyping of CYP2R1- and NADSYN1-SNPs were investigated both in MS patients and in healthy controls. Results The analysis revealed lower 25-OH-vitamin D3 concentrations in MS patients than in controls and an association of rs10766197 CYP2R1 SNP with MS risk. After stratifying MS p…
Low Prevalence of Lactase Persistence in Bronze Age Europe Indicates Ongoing Strong Selection over the Last 3,000 Years
2020
Lactase persistence (LP), the continued expression of lactase into adulthood, is the most strongly selected single gene trait over the last 10,000 years inmultiple human populations. It has been posited that the primary allele causing LP among Eurasians, rs4988235-A [1], only rose to appreciable frequencies during the Bronze and Iron Ages [2, 3], long after humans started consuming milk from domesticated animals. This rapid rise has been attributed to an influx of people from the Pontic-Caspian steppe that began around 5,000 years ago [4, 5]. We investigate the spatiotemporal spread of LP through an analysis of 14 warriors from the Tollense Bronze Age battlefield in northern Germany ( 3,20…
PTPN22 and CTLA-4 Polymorphisms Are Associated With Polyglandular Autoimmunity
2017
Context Single nucleotide polymorphisms (SNPs) of various genes increase susceptibility to monoglandular autoimmunity. Data on autoimmune polyglandular syndromes (APSs) are scarce. Objective Evaluate potential associations of eight SNPs with APSs. Setting Academic referral endocrine clinic. Patients A total of 543 patients with APS and monoglandular autoimmunity and controls. Intervention The SNP protein tyrosine phosphatase nonreceptor type 22 (PTPN22) rs2476601 (+1858); cytotoxic T-lymphocyte‒associated antigen 4 (CTLA-4) rs3087243 (CT60) and rs231775 (AG49); vitamin D receptor (VDR) rs1544410 (Bsm I), rs7975232 (Apa I), rs731236 (Taq I); tumor necrosis factor α rs1800630 (-863); and inte…
Changes in Alcohol Consumption Pattern Based on Gender during COVID-19 Confinement in Spain
2021
(1) The goal of this study was to analyze the prevalence and pattern of alcohol consumption (frequency of consumption, average daily consumption, and risky consumption) before and during confinement due to the coronavirus disease (COVID-19) in the adult population and based on gender. (2) Methods: Data from 3779 individuals were collected via a set of online surveys. The AUDIT alcohol consumption questions (AUDIT-C) were used to measure the frequency of consumption, the average daily consumption, intensive consumption, risky consumption, and standard drink units. (3) Results: During confinement, the prevalence of alcohol consumption declined in both males and females, but only intensive con…
High-frequency oscillatory ventilation in adults with traumatic brain injury and acute respiratory distress syndrome
2005
This study observed adverse events of rescue treatment with high-frequency oscillatory ventilation (HFOV) in head-injured patients with acute respiratory distress syndrome (ARDS).Data of five male patients with ARDS and traumatic brain injury, median age 28 years, who failed to respond to conventional pressure-controlled ventilation (PCV) were analyzed retrospectively during HFOV. Adjusted mean airway pressure at initiation of HFOV was set to 5 cm H2O above the last measured mean airway pressure during PCV. Frequency of pulmonary air leak, mucus obstruction, tracheal injury, and need of HFOV termination due to increased intracranial pressure, decreased cerebral perfusion pressure, or deteri…