Search results for " ASSOCIATION"

Cost-effectiveness of recall strategies for non-invasive diagnosis of small hepatocellular carcinoma

2009

A systematic review and meta-analysis of the impact of WT1 polymorphism rs16754 in the effectiveness of standard chemotherapy in patients with acute …

2015

The polymorphism rs16754 of the WT1 gene has been described as a possible prognostic marker in different acute myeloid leukemia (AML) cohorts; however, it is not supported by all the studies. We performed the first meta-analysis evaluating the effect of this polymorphism upon the effectiveness of standard AML therapy. Fourteen cohort studies were included (3618 patients). Patients with the variant allele showed a significant higher overall survival (OS) at 5 years (OR: 1.24, 95% CI: 1.06-1.45, P = 0.007, with dominant model). WT1 did not influence complete remission, but a higher disease-free survival was observed with the variant allele. In the subgroup analysis, Caucasians, pediatric and …

Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study

2012

Item does not contain fulltext INTRODUCTION: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. METHODS: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analys…

Paper vs. Pixel: Can We Use a Pen-and-Paper Method to Measure Athletes' Implicit Doping Attitude?

2017

Doping attitude is an individual’s subjective evaluation (e.g., good or bad, useful or useless) toward the use of prohibited performance-enhancing substances or methods in sports. Research on doping attitude has traditionally relied on self-report questionnaire methods to measure the construct (Ntoumanis et al., 2014; Chan et al., 2015). However, as doping in sport is illegal (World AntiDoping Agency, 2015) and perceived as socially unacceptable, athletes who hold positive attitudes toward doping are less likely to reveal them to others. As a result explicit measures of doping attitude are susceptible to potential bias as athletes may respond in a socially desirable fashion (Petróczi and Ai…

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

2015

Item does not contain fulltext Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium, obtaining a global resource. We identify 112 candidate ciliogenesis and ciliopathy genes, including 44 components of the ubiquitin-proteasome system, 12 G-protein-coupled receptors, and 3 pre-mRNA processing factors (PRPF6, PRPF8 and PRPF31) mutated in autosomal dominant retinitis pigmentosa. The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequen…

Evaluation of Franz Marc’s Color Theory using Implicit Testing Procedures

2018

In the early 20th century, the German expressionist painter Franz Marc formulated assumptions concerning the meanings of color, based on his individual sensations. He characterized the ‘cool’ blue as the ‘masculine principle’. Yellow represented the ‘feminine principle’ which he declared as ‘gentle, cheerful, and sensual’. This leaves red, the color he perceived as ‘brutal and heavy’. Here, we tested some of the color–meaning associations assumed by Franz Marc via implicit measures based on response times, using Single Category Implicit Association Tests. The participants had to classify words as belonging to one of two semantic categories (e.g., masculine or feminine) by pressing one of tw…

Common variants conferring risk of schizophrenia

2009

Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…

Mediterranean diet and adiposity in children and adolescents: A systematic review

2021

Our aim was to summarize, through a systematic review, the current evidence from dietary intervention and observational studies on the impact of adherence to the Mediterranean diet on adiposity markers and obesity in children and adolescents. We searched Medline up to June 1, 2021 for the identification of intervention and observational studies meeting the inclusion criteria, following the PRISMA statement. We included 55 articles: 8 intervention studies and 47 observational studies. Three trials report a beneficial effect of the dietary intervention, whereas two did not, and three did not compare with a control. All observational studies were cross-sectional, and only five studies also inc…

Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease?

2021

Gender Confirmation Surgery: Guiding Principles

2016

Abstract Background At this time, no formal training or educational programs exist for surgeons or surgery residents interested in performing gender confirmation surgeries. Aim To propose guiding principles designed to aid with the development of formal surgical training programs focused on gender confirmation surgery. Methods We use expert opinion to provide a “first of its kind” framework for training surgeons to care for transgender and gender nonconforming individuals. Outcomes We describe a multidisciplinary treatment model that describes an educational philosophy and the institution of quality parameters. Results This article represents the first step in the development of a structure…