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showing 10 items of 6771 documents
Amino Acid Polymorphisms in Hla Class II Differentiate Between Thyroid and Polyglandular Autoimmunity.
2019
Abstract Context The structure of the human leucocyte antigen (HLA) peptide-binding clefts strongly contributes to monoglandular and polyglandular autoimmunity (AP). Objective To investigate the impact of amino acid polymorphisms on the peptide-binding interactions within HLA class II and its association with AP. Design Immunogenetic study. Setting Tertiary referral center for autoimmune endocrine diseases. Subjects 587 subjects with AP, autoimmune thyroid disease (AITD), type 1 diabetes (T1D), and healthy unrelated controls were typed for HLA class II. Methods Amino acids within the peptide binding cleft that are encoded by HLA class II exon 2 were listed for all codon positions in all sub…
Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis.
2018
ObjectiveHomozygous alpha1-antitrypsin (AAT) deficiency increases the risk for developing cirrhosis, whereas the relevance of heterozygous carriage remains unclear. Hence, we evaluated the impact of the two most relevant AAT variants (‘Pi*Z’ and ‘Pi*S’), present in up to 10% of Caucasians, on subjects with non-alcoholic fatty liver disease (NAFLD) or alcohol misuse.DesignWe analysed multicentric case–control cohorts consisting of 1184 people with biopsy-proven NAFLD and of 2462 people with chronic alcohol misuse, both cohorts comprising cases with cirrhosis and controls without cirrhosis. Genotyping for the Pi*Z and Pi*S variants was performed.ResultsThe Pi*Z variant presented in 13.8% of p…
Sex-specific differences in genetic and nongenetic determinants of mean platelet volume: results from the Gutenberg Health Study.
2016
Mean platelet volume (MPV), a measure of platelet size, is a potential biological marker of platelet function. To date, a comprehensive analysis including known genetic and nongenetic factors that determine MPV is still lacking. MPV has been evaluated in 15 010 individuals from the population-based Gutenberg Health Study. Genetic information was available for 4175 individuals. Our results showed that age (β, 0.0346; 95% confidence interval [CI], 0.0255 to 0.0436), cardiovascular risk factors (CVRFs) such as smoking (β, 0.178; 95% CI, 0.128 to 0.229), hypertension (β, 0.05; 95% CI, 0.00289 to .0981), and high glucose level (β, 0.00179; 95% CI, 0.0006 to 0.00299) were linked with higher MPV i…
Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity
2017
9 páginas, 2 figuras, 4 tablas
Mitochondrial genetic haplogroups and depressive symptoms: A large study among people in North America.
2017
Background:\ud A possible relationship between mitochondrial haplogroups and psychiatric diseases (e.g. schizophrenia and bipolar disorder) has been postulated, but data regarding depression is still limited. We investigated whether any mitochondrial haplogroup carried a significant higher risk of depressive symptoms in a large prospective cohort of North American people included in the Osteoarthritis Initiative.\ud \ud Methods:\ud Cross sectional data was derived from the Osteoarthritis Initiative. The haplogroup was assigned through a combination of sequencing and PCR-RFLP techniques. All the mitochondrial haplogroups were named following this nomenclature: H, U, K, J, T, V, SuperHV, I, W…
Influence of a Mediterranean Dietary Pattern on Body Fat Distribution: Results of the PREDIMED-Canarias Intervention Randomized Trial
2016
Objective: To assess the influence of a Mediterranean dietary pattern (MeDiet) on anthropometric and body composition parameters in one of the centers of the PREDIMED randomized dietary trial. Subjects/Settings: 351 Canarian free-living subjects aged 55 to 80 years, with type 2 diabetes or ≥3 cardiovascular risk factors. Intervention: Participants were randomly assigned to one of 3 different dietary interventions: MeDiet + extra-virgin olive oil (EVOO), MeDiet + nuts (walnuts, almonds, and hazelnuts), or a control low-fat diet. Total energy intake was ad libitum. Outcome measures: Measures included changes in anthropometric measures (weight, body mass index [BMI] and waist circumference [WC…
Improved electroless platinum contacts on CdZnTe X- and γ-rays detectors
2020
AbstractPlatinum is a promising candidate for the realization of blocking electrical contacts on cadmium-zinc-telluride (CdZnTe or CZT) radiation detectors. However, the poor mechanical adhesion of this metal often shortens the lifetime of the final device. In this work, a simple and effective procedure to obtain robust platinum contacts by electroless deposition is presented. Microscopical analysis revealed the final thickness and composition of the contact layer and its adhesion to the bulk crystal. The blocking nature of the Pt-CdZnTe junction, essential to obtain low noise devices, was confirmed by current–voltage measurements. The planar Pt-CdZnTe-Pt detectors showed good room temperat…
Surface structure promoted high-yield growth and magnetotransport properties of Bi2Se3 nanoribbons
2019
AbstractIn the present work, a catalyst-free physical vapour deposition method is used to synthesize high yield of Bi2Se3 nanoribbons. By replacing standard glass or quartz substrates with aluminium covered with ultrathin porous anodized aluminium oxide (AAO), the number of synthesized nanoribbons per unit area can be increased by 20–100 times. The mechanisms of formation and yield of the nanoribbons synthesized on AAO substrates having different arrangement and size of pores are analysed and discussed. It is shown that the yield and average length of the nanoribbons can base tuned by adjustment of the synthesis parameters. Analysis of magnetotransport measurements for the individual Bi2Se3…
Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia
2016
Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P=2.55 × 10−11), 6p25.2 (rs73718779, SERPINB6, P=1.97 × 10−8) and 3q28 (rs9815073, LPP, P=3.62 × 10−8), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P=1.00 × 10−11) in the combined analysis. We find suggestive evidence (P<5 × 10−…
Diversity of Sterol Composition in Tunisian Pistacia lentiscus Seed Oil
2016
International audience; Pistacia lentiscus L. seed oil is used in some Mediterranean forest area for culinary and medicinal purposes. In this study, we aim to examine, for the first time, the effect of growing area on sterol content of Pistacia lentiscus seed oil. Fruits were harvested from 13 different sites located in northern and central Tunisia. Gas chromatography-flame-ionization detection (GC-FID) was used to quantify sterols and gas chromatography/mass spectrometry (GC/MS) was used to identify them. The major sterol identified was b-sitosterol with a value ranging from 854.12 to 1224.09 mg/kg of oil, thus making up more than 54% of the total sterols. The other two main sterols were c…