Search results for "insights"
showing 10 items of 34 documents
Bitter, Sweet, Salty, Sour and Umami Taste Perception Decreases with Age: Sex-Specific Analysis, Modulation by Genetic Variants and Taste-Preference …
2018
There is growing interest in relating taste perception to diet and healthy aging. However, there is still limited information on the influence of age, sex and genetics on taste acuity as well as on the relationship between taste perception and taste preferences. We have analysed the influence of age on the intensity rating of the five basic tastes: sweet, salty, bitter, sour and umami (separately and jointly in a &ldquo
Genome-wide Association Studies Identify Genetic Loci Associated with Albuminuria in Diabetes
2016
Elevated concentrations of albumin in the urine, albuminuria, are a hallmark of diabetic kidney disease and are associated with an increased risk for end-stage renal disease and cardiovascular events. To gain insight into the pathophysiological mechanisms underlying albuminuria, we conducted meta-analyses of genome-wide association studies and independent replication in up to 5,825 individuals of European ancestry with diabetes and up to 46,061 without diabetes, followed by functional studies. Known associations of variants in CUBN, encoding cubilin, with the urinary albumin-to-creatinine ratio (UACR) were confirmed in the overall sample (P = 2.4 × 10−10). Gene-by-diabetes interactions were…
Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia
2014
Idiopathic achalasia is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus(1,2). This ultimately leads to massive dilatation and an irreversibly impaired megaesophagus. We performed a genetic association study in 1,068 achalasia cases and 4,242 controls and fine-mapped a strong MHC association signal by imputing classical HLA haplotypes and amino acid polymorphisms. An eight-residue insertion at position 227-234 in the cytoplasmic tail of HLA-DQ beta 1 (encoded by HLA-DQB1*05:03 and HLA-DQB1*06:01) confers the strongest risk for achalasia (P = 1.73 x 10(-19)). In addition, two amino acid substitutions in the. extracellular …
Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
2021
Background The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. In this study, we aimed to characterise the adult population with heterozygous familial hypercholesterolaemia and described how it is detected and managed globally. Methods Using FHSC global registry data, we did a cross-sectional assessment of adults (aged 18 years or older) with a clinical or genetic diagnosis of probable or definite heterozygous familial hypercholesterolaemia at the time they were entered into the registries. Dat…
Training-induced changes in daily energy expenditure: Methodological evaluation using wrist-worn accelerometer, heart rate monitor, and doubly labele…
2019
IntroductionWrist-mounted motion sensors can quantify the volume and intensity of physical activities, but little is known about their long-term validity. Our aim was to validate a wrist motion sensor in estimating daily energy expenditure, including any change induced by long-term participation in endurance and strength training. Supplemental heart rate monitoring during weekly exercise was also investigated.MethodsA 13-day doubly labeled water (DLW) measurement of total energy expenditure (TEE) was performed twice in healthy male subjects: during two last weeks of a 12-week Control period (n = 15) and during two last weeks of a 12-week combined strength and aerobic Training period (n = 13…
Between context and comparability: Exploring new solutions for a familiar methodological challenge in qualitative comparative research
2020
Finding the balance between adequately describing the uniqueness of the context of studied phenomena and maintaining sufficient common ground for comparability and analytical generalisation has widely been recognised as a key challenge in international comparative research. Methodological reflections on how to adequately cover context and comparability have extensively been discussed for quantitative survey or secondary data research. In addition, most recently, promising methodological considerations for qualitative comparative research have been suggested in comparative fields related to higher education. The article’s aim is to connect this discussion to comparative higher education rese…
Comparison of HapMap and 1000 genomes reference panels in a large-scale genome-wide association study
2017
An increasing number of genome-wide association (GWA) studies are now using the higher resolution 1000 Genomes Project reference panel (1000G) for imputation, with the expectation that 1000G imputation will lead to the discovery of additional associated loci when compared to HapMap imputation. In order to assess the improvement of 1000G over HapMap imputation in identifying associated loci, we compared the results of GWA studies of circulating fibrinogen based on the two reference panels. Using both HapMap and 1000G imputation we performed a meta-analysis of 22 studies comprising the same 91,953 individuals. We identified six additional signals using 1000G imputation, while 29 loci were ass…
The young Ramón y Cajal as a cell-theory dissenter
2008
Pereto Magraner, Juli, Juli.Pereto@uv.es
Rapid shifting of a deep magmatic source at Fagradalsfjall volcano, Iceland
2022
AbstractRecent Icelandic rifting events have illuminated the roles of centralized crustal magma reservoirs and lateral magma transport1–4, important characteristics of mid-ocean ridge magmatism1,5. A consequence of such shallow crustal processing of magmas4,5 is the overprinting of signatures that trace the origin, evolution and transport of melts in the uppermost mantle and lowermost crust6,7. Here we present unique insights into processes occurring in this zone from integrated petrologic and geochemical studies of the 2021 Fagradalsfjall eruption on the Reykjanes Peninsula in Iceland. Geochemical analyses of basalts erupted during the first 50 days of the eruption, combined with associate…
La Valle dei Templi in epoca medioevale. Caratterizzazione antropologica e paleopatologica delle sepolture antistanti in Tempio della Concordia
2021
Riassunto ― Il lavoro presenta i risultati delle analisi bio-archeologiche effettuate su resti scheletrici umani rinvenuti in quattordici sepolture di epoca medioevale rinvenute nel Parco Archeologico della Valle dei Templi di Agrigento (Sicilia). L’obiettivo è stato l’acquisizione delle informazioni necessarie per la ricostruzione del profilo biologico di ciascun individuo, al fine di determinarne il sesso, la stima dell’età biologica alla morte, la stima della statura e la valutazione delle patologie e degli indicatori di stress occupazionale mediante le correnti metodologie e tecniche diagnostiche di tipo antropologico. Sebbene il cattivo stato di conservazione di alcuni individui non ne…