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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive

FLT3 expression initiates in fully multipotent mouse hematopoietic progenitor cells

Lymphoid-primed multipotent progenitors with down-regulated megakaryocyte-erythroid (MkE) potential are restricted to cells with high levels of cell-surface FLT3 expression, whereas HSCs and MkE progenitors lack detectable cell-surface FLT3. These findings are compatible with FLT3 cell-surface expression not being detectable in the fully multipotent stem/progenitor cell compartment in mice. If so,

Genetic control of antibody production during collagen-induced arthritis development in heterogeneous stock mice

Objective. To identify genetic factors driving pathogenic autoantibody formation in collagen-induced arthritis (CIA), a mouse model of rheumatoid arthritis (RA), in order to better understand the etiology of RA and identify possible new avenues for therapeutic intervention. Methods. We performed a genome-wide analysis of quantitative trait loci controlling autoantibody to type II collagen (anti-CI

Capture the Fracture: a Best Practice Framework and global campaign to break the fragility fracture cycle.

The International Osteoporosis Foundation (IOF) Capture the Fracture Campaign aims to support implementation of Fracture Liaison Services (FLS) throughout the world. INTRODUCTION: FLS have been shown to close the ubiquitous secondary fracture prevention care gap, ensuring that fragility fracture sufferers receive appropriate assessment and intervention to reduce future fracture risk. METHODS: Capt

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.

Individuals carrying pathogenic mutations in BRCA1/2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. In

Rapid Sequence Induction is Superior to Morphine for Intubation of Preterm Infants: A Randomized Controlled Trial.

OBJECTIVES: To compare rapid sequence intubation (RSI) premedication with morphine for intubation of preterm infants. STUDY DESIGN: Preterm infants needing semi-urgent intubation were enrolled to either RSI (glycopyrrolate, thiopental, suxamethonium, and remifentanil, n = 17) or atropine and morphine (n = 17) in a randomized trial. The main outcome was "good intubation conditions" (score ≤10 asse

Reliable wet-chemical cleaning of natively oxidized high-efficiency Cu(In,Ga)Se-2 thin-film solar cell absorbers

Currently, Cu-containing chalcopyrite-based solar cells provide the highest conversion efficiencies among all thin-film photovoltaic (PV) technologies. They have reached efficiency values above 20%, the same performance level as multi-crystalline silicon-wafer technology that dominates the commercial PV market. Chalcopyrite thin-film heterostructures consist of a layer stack with a variety of inte

Baeyer-Villiger oxidation with peracid generated in situ by CaLB-CLEA catalyzed perhydrolysis

Candida antarctica lipase B, immobilized as cross linked enzyme aggregates (CLEAs) was used to mediate the Baeyer-Villiger oxidation of cyclohexanone to epsilon-caprolactone, and the reaction was compared with the one using Novozym (R) 435 as catalyst. The conversion was dependent on the initial concentration of cyclohexanone, and was about 90% after 48 h at concentrations of up to 0.25 M but was

Model-data synthesis for the next generation of forest free-air CO2 enrichment (FACE) experiments.

The first generation of forest free-air CO2 enrichment (FACE) experiments has successfully provided deeper understanding about how forests respond to an increasing CO2 concentration in the atmosphere. Located in aggrading stands in the temperate zone, they have provided a strong foundation for testing critical assumptions in terrestrial biosphere models that are being used to project future intera

Reusing and Retargeting On-Chip Instrument Access Procedures in IEEE P1687

Modern chips may contain a large number of embedded test, debugging, configuration, and monitoring features, called instruments. An instrument and its instrument access procedures may be pre-developed and reused, and each instrument—in different chips and through the life-time of a chip—may be accessed in different ways, which requires retargeting. To address reuse and retargeting of instrument ac

Visualization and understanding of combustion processes using spatially and temporally resolved laser diagnostic techniques

Laser diagnostic techniques have for more than 30 years added very valuable input for a deepened understanding of combustion processes. The present paper will focus on techniques developed for visualization of important parameters with the ability to get detailed information in space and time. The paper is not meant to be a complete review of the entire research field but rather a survey with a ma

Nature, nurture and socioeconomic policy-What can we learn from molecular genetics?

Many countries use public resources to compensate individuals with genetic disorders, identified by behaviors/symptoms such as chronic diseases and disabilities. This paper draws attention to molecular genetic research which may provide a new dimension to our understanding of how socioeconomic outcomes are generated. We provide an overview of the recently emerging evidence of gene-environment inte

Postgraduate education in internal medicine in Europe

Background: Limited information exists on the framework and content of postgraduate education in internal medicine in Europe. This report describes the results of a survey of postgraduate training in internal medicine in the European countries. Methods: Two online questionnaire-based surveys were carried out by the European Board of Internal Medicine, one on the practice of internists and the othe

Maternal Autoimmune Thyroid Disease and the Fetal Immune System.

OBJECTIVE: Several studies indicate that in utero exposure to maternal autoimmune diseases and transplacental passage of autoantibodies affect the risk of autoimmunity in the offspring, e. g., maternally derived GAD65 autoantibody correlates with decreased risk of type 1 diabetes, whereas thyroid peroxidase autoantibody (TPOAb) positivity at birth is associated with increased incidence of autoimmu

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 89

Pressure and Phase Equilibria in Interacting Active Brownian Spheres

We derive a microscopic expression for the mechanical pressure P in a system of spherical active Brownian particles at density ρ. Our exact result relates P, defined as the force per unit area on a bounding wall, to bulk correlation functions evaluated far away from the wall. It shows that (i) P(ρ) is a state function, independent of the particle-wall interaction; (ii) interactions contribute two

Oncogenic activation of FOXR1 by 11q23 intrachromosomal deletion-fusions in neuroblastoma

Neuroblastoma tumors frequently show loss of heterozygosity of chromosome 11q with a shortest region of overlap in the 11q23 region. These deletions are thought to cause inactivation of tumor suppressor genes leading to haploinsufficiency. Alternatively, micro-deletions could lead to gene fusion products that are tumor driving. To identify such events we analyzed a series of neuroblastomas by comp