Search results for " Variants"
showing 10 items of 148 documents
Relation Between Genetic Factors and Frailty in Older Adults.
2018
Frailty is a geriatric syndrome that identifies individuals at higher risk of disability, institutionalization, and death. We previously reported that frailty is related to oxidative stress and cognitive impairment-related biomarkers. The aim of this study was to determine whether frailty is associated with genetic variants.Longitudinal population-based cohort of 2488 community-dwelling people from Toledo, Spain, aged 65 years or older.We obtained blood samples from 78 individuals with frailty and 74 nonfrail individuals who were nonfrail (according to Fried criteria) from the Toledo Study of Healthy Ageing and extracted DNA using the Chemagic DNA blood kit.Sample genotyping was carried out…
PRELIMINARY STUDY ON QUANTIFICATION OF aS1-CASEIN VARIANTS IN GIRGENTANA GOAT BREED BY DIRECT CHROMATOGRAPHIC ANALYSIS OF MILK
2012
Goat αs1-casein is a highly polymorphic protein, coded by CSN1S1 gene. Nowadays, several alleles were identified and associated with different levels of αs1-casein in goat milk. Polymorphisms at αs1-casein locus have been shown to affect not only the quantity of this casein in goat milk, but also the structural and nutritional characteristics (hypoallergenic properties) and technological properties of the milk (1). The aim of this work was to separate and quantify the most common allelic variants of αs1-casein in milk of Girgentana goat breed, a Sicilian autochthonous breed, and to evaluate the effect of αs1-casein polymorphisms on casein content. The CSN1S1 A/01, B/E, F, and N alleles were…
Human HSP10 variants downregulation after cigarette smoke extract exposure in lung cells
2009
The impact of cigarette-smoke stress (a form of oxidative stress) on human lung fibroblasts and epithelial cells, particularly its effect on Hsp10 expression, has not been characterized despite the fact that a role for mitochondrial chaperonins in the development of lung diseases, ranging from chronic obstructive pulmonary disease to bronchial carcinogenesis, has been suggested (1). We studied the effects of non-lethal doses of cigarette smoke extract (CSE) on the expression of Hsp10 in human lung fibroblasts (HFL-1 line) and epithelial cells (16HBE line). Proteomics was carried out using 2D-IPG, silver stain, western blotting, and mass-spectrometry; mRNA was measured by RT-PCR. Database se…
Standard Vs Uniform Binary Search and Their Variants in Learned Static Indexing: The Case of the Searching on Sorted Data Benchmarking Software Platf…
2023
Learned Indexes are a novel approach to search in a sorted table. A model is used to predict an interval in which to search into and a Binary Search routine is used to finalize the search. They are quite effective. For the final stage, usually, the lower_bound routine of the Standard C++ library is used, although this is more of a natural choice rather than a requirement. However, recent studies, that do not use Machine Learning predictions, indicate that other implementations of Binary Search or variants, namely k-ary Search, are better suited to take advantage of the features offered by modern computer architectures. With the use of the Searching on Sorted Sets SOSD Learned Indexing bench…
A large multicenter propensity match study of sentinel lymph node biopsy feasibility in endometrioid variants of endometrial cancer
2022
Introduction: Sentinel lymph node (SLN) biopsy algorithm has been routinely applied in all endometrial endometrioid tumors, however, no studies analyzed the feasibility of SLN mapping in endometrioid variants (EV), which included villoglandular, secretory, ciliated cell, mucinous, and squamous differentiation. This study aimed to demonstrate the feasibility of SLN biopsy in EV of EC. Materials and methods: All patients undergoing minimally invasive surgical treatment for early-stage EC were included in the study. Patients were divided into 2 study groups: Group 1 which included patients with EV, and Group 2 which included patients with typical endometrioid histology. A propensity match anal…
Characteristics of SARS-CoV-2 variants of concern B.1.1.7, B.1.351 or P.1: data from seven EU/EEA countries, weeks 38/2020 to 10/2021
2021
COVID study groups - PORTUGAL: Portuguese Laboratory Network for the Diagnosis of COVID-19 and Public Health Department of the Health Administrative Regions, Physicians that provided data and samples from suspected cases and SARS-CoV-2 genetic characterization. INSA laboratory team for the diagnosis of SARS-CoV-2. Algarve Biomedical Center and Unilabs. We compared 19,207 cases of SARS-CoV-2 variant B.1.1.7/S gene target failure (SGTF), 436 B.1.351 and 352 P.1 to non-variant cases reported by seven European countries. COVID-19 cases with these variants had significantly higher adjusted odds ratios for hospitalisation (B.1.1.7/SGTF: 1.7, 95% confidence interval (CI): 1.0-2.9; B.1.351: 3.6, 95…
SINCONAPP: A Computerized learning tool for CBCT normal anatomy and variants of the nose and paranasal sinuses
2014
1. Purpose To supply an useful learning tool aimed to interactively display on mobile devices normal anatomy and variants of the nose and paranasal sinuses as seen on CBCT images. 2. Methods and Materials Images Images of the nose and paranasal sinuses were derived by a study series acquired by a CBCT device. CBCT studies of the paranasal sinuses were acquired in patients referred for nasal obstruction or sinusitis with the following parameters: 90 kVp, 12.5 mA, 20 s rotation time, FOV 13 x 14.5 cm, 0.25 x 0.25 x 0.25 mm voxel size. Software The application has been developed for iOS based mobile devices through the platform XCode provided by Apple®, and it is developed using the Objective-…
De novo GRIN2A variants associated with epilepsy and autism and literature review
2021
N-methyl-D-aspartate receptors (NMDAR) are di- or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A–D, and GRIN3A–B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression patterns in the brain and varies in the cell types and subcellular localization resulting in different functions. They play a crucial role in mediating the excitatory neurotransmission, but are also involved in neuronal development and synaptic plasticity, essential for learning, memory, and high cognitive functions. Among genes coding NMDAR subunits…
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
Intake of Vitamin K Antagonists and Worsening of Cardiac and Vascular Disease: Results From the Population‐Based Gutenberg Health Study
2018
Background Preclinical data have indicated a link between use of vitamin K antagonists ( VKA ) and detrimental effects on vascular structure and function. The objective of the present study was to determine the relationship between VKA intake and different phenotypes of subclinical cardiovascular disease in the population. Methods and Results Clinical and laboratory data, as well as medical–technical examinations were assessed from 15 010 individuals aged 35 to 74 years during a highly standardized 5‐hour visit at the study center of the population‐based Gutenberg Health Study. In total, the study sample comprised 287 VKA users and 14 564 VKA nonusers. Multivariable analysis revealed an in…