Search results for "LPI"

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

2020

Contains fulltext : 218274.pdf (Publisher’s version ) (Closed access) Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging pa…

NNRTI and Liver Damage: Evidence of Their Association and the Mechanisms Involved.

2021

Due to the improved effectiveness and safety of combined antiretroviral therapy, human immunodeficiency virus (HIV) infection has become a manageable, chronic condition rather than a mortal disease. However, HIV patients are at increased risk of experiencing non-AIDS-defining illnesses, with liver-related injury standing out as one of the leading causes of death among these patients. In addition to more HIV-specific processes, such as antiretroviral drug-related toxicity and direct injury to the liver by the virus itself, its pathogenesis is related to conditions that are also common in the general population, such as alcoholic and non-alcoholic fatty liver disease, viral hepatitis, and age…

Factors Associated With Weight Gain in People Treated With Dolutegravir.

2020

AbstractBackgroundAn unexpected excess in weight gain has recently been reported in the course of dolutegravir (DTG) treatment. The aim of the present study was to investigate whether weight gain differs among different DTG-containing regimens.MethodsAdult naïve and experienced people with HIV (PWH) initiating DTG-based antiretroviral therapy (ART) between July 2014 and December 2019 in the Surveillance Cohort Long-Term Toxicity Antiretrovirals (SCOLTA) prospective cohort were included. We used an adjusted general linear model to compare weight change among backbone groups and a Cox proportional hazard regression model to calculate hazard ratios (HRs) and 95% confidence intervals (CIs) for …

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Sy…

2021

Abstract Purpose To determine impact of risk-reducing hysterectomy and bilateral salpingo-oophorectomy (BSO) on gynecological cancer incidence and death in heterozygotes of pathogenic MMR ( path_MMR ) variants. Methods The Prospective Lynch Syndrome Database was used to investigate the effects of gynecological risk-reducing surgery (RRS) at different ages. Results Risk-reducing hysterectomy at 25 years of age prevents endometrial cancer before 50 years in 15%, 18%, 13%, and 0% of path_MLH1 , path_MSH2 , path_MSH6 , and path_PMS2 heterozygotes and death in 2%, 2%, 1%, and 0%, respectively. Risk-reducing BSO at 25 years of age prevents ovarian cancer before 50 years in 6%, 11%, 2%, and 0% and…

CCDC 754487: Experimental Crystal Structure Determination

2010

Related Article: M.Karna, M.Lahtinen, J.Valkonen|2009|Acta Crystallogr.,Sect.E:Struct.Rep.Online|65|o2952|doi:10.1107/S1600536809045139

CCDC 1483077: Experimental Crystal Structure Determination

2017

Related Article: Vittorio Pace, Wolfgang Holzer, Guangrong Meng, Shicheng Shi, Roger Lalancette, Roman Szostak, Michal Szostak|2016|Chem.-Eur.J.|22|14494|doi:10.1002/chem.201603543

The aspect of nationality and performance in a mountain ultra-marathon-the ‘Swiss Alpine Marathon’

2012

Eichenberger E, Knechtle B, Rust CA, Lepers R, Rosemann T, Onywera VO. The aspect of nationality and performance in a mountain ultra-marathon - the ‘Swiss Alpine Marathon’ J. Hum. Sport Exerc. Vol. 7, No. 4, pp. 748-762, 2012. Runners from East Africa and especially from Kenya dominate middle- and longdistance running races worldwide. The aim of the present study was to investigate the participation and performance trends regarding the nationality of runners in a mountain ultra-marathon held in partially high alpine terrain. We hypothesized that Kenyan runners, living and training in the Great Rift Valley, a predominantly hilly, mountainous and altitudinous region like the Alps, would domin…

ChemInform Abstract: Recyclable Catalyst Reservoir: Oxidation of Alcohols Mediated by Noncovalently Supported Bis(imidazolium)-Tagged 2,2,6,6-Tetrame…

2014

Soil moisture variations from boreal forests to the tundra

2023

Soil moisture has a profound influence on life on Earth, and this vital water resource varies across space and time. Here, we explored soil moisture variations in boreal forest and tundra environments, where comprehensive soil moisture datasets are scarce. We installed soil moisture sensors up to 14 cm depth at 503 measurement sites within seven study areas across northern Europe. We recorded 6,138,528 measurements to capture soil moisture variations of the snowless season from April to September 2020. We described the spatio-temporal patterns of soil moisture, and test how these patterns are linked to topography and how these links vary in space and time. We found large spatial variation a…

Latvijas Vēstures Institūta Žurnāls. 2022, Nr. 1 (115)

2022

LU Latvijas vēstures institūta LU ilgtermiņa saistību izpildei 2020.-2022. g. ("Latvijas Vēstures Institūta Žurnāls")