Search results for "Disposition"

Role of PTPRJ genotype in papillary thyroid carcinoma risk

2010

The strong genetic predisposition to papillary thyroid carcinoma (PTC) might be due to a combination of low-penetrance susceptibility variants. Thus, the research into gene variants involved in the increase of susceptibility to PTC is a relevant field of investigation. The gene coding for the receptor-type tyrosine phosphatase PTPRJ has been proposed as a cancer susceptibility gene, and its role as a tumor suppressor gene is well established in thyroid carcinogenesis. In this study, we want to ascertain the role of PTPRJ genotype in the risk for PTC. We performed a case–control study in which we determined the PTPRJ genotype for the non-synonymous Gln276Pro and Asp872Glu polymorphisms by PC…

Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines.

2013

J. Balmana1, F. Balaguer2, A. Cervantes3 & D. Arnold4, on behalf of the ESMO Guidelines Working Group* Department of Medical Oncology, Hospital Vall d’Hebron, Vall d’Hebron Institute of Oncology (VHIO), Universitat Autonoma de Barcelona, Barcelona; Department of Gastroenterology, Hospital Clinic, CIBERehd, IDIBAPS, University of Barcelona, Barcelona; Department of Hematology and Medical Oncology, INCLIVA, University of Valencia, Valencia, Spain; Department of Medical Oncology, Tumor Biology Clinic, Albert Ludwigs University, Freiburg, Germany;

Updated Field Synopsis and Systematic Meta-Analyses of Genetic Association Studies in Cutaneous Melanoma: The MelGene Database

2015

We updated a field synopsis of genetic associations of cutaneous melanoma (CM) by systematically retrieving and combining data from all studies in the field published as of August 31, 2013. Data were available from 197 studies, which included 83,343 CM cases and 187,809 controls and reported on 1,126 polymorphisms in 289 different genes. Random-effects meta-analyses of 81 eligible polymorphisms evaluated in4 data sets confirmed 20 single-nucleotide polymorphisms across 10 loci (TYR, AFG3L1P, CDK10, MYH7B, SLC45A2, MTAP, ATM, CLPTM1L, FTO, and CASP8) that have previously been published with genome-wide significant evidence for association (P5 × 10(-8)) with CM risk, with certain variants pos…

Disposição ao pensamento crítico, nível acadêmico, gênero e resolução de problemas no ensino médio

2021

Resumen El propósito de este estudio fue investigar la posible influencia de la disposición hacia el pensamiento crítico, el nivel académico y el género (variables independientes) sobre el desempeño en resolución de problemas de estudiantes de secundaria (variable dependiente). Han participado 114 estudiantes de educación secundaria españoles, 55 chicos y 59 chicas, de 3º y 4º de ESO y de 1º de Bachillerato (9º, 10º y 11º grado, respectivamente). A todos ellos se les ha administrado un cuestionario sobre disposición hacia el pensamiento crítico y una prueba de resolución de problemas (un problema de las pruebas PISA). De la matriz de correlaciones producto-momento de Pearson entre variables…

Alpha1-antitrypsin heterozygosity plays a positive role in attainment of longevity.

2007

Genes involved in cardiovascular diseases (CVD) play an opposite role in human longevity. The alpha1-antitrypsin (AAT) is a serine-protease inhibitor required for the prevention of proteolytic tissue damage, by neutrophil elastase. The role of AAT in CVD has not been definitively assessed and its effect on longevity has not yet fully been studied. To clarify these points, we have studied the distribution of AAT allele variants in 3 cohorts: 127 young patients affected by acute myocardial infarction (AMI), 255 young controls and 143 centenarians from Sicily. The Z allele frequency was most frequent in centenarians (13.3%), intermediate in healthy young controls (3.1%) and less frequent in AM…

Measuring dispositional optimism in patients with chronic heart failure and their healthcare providers: The validity of the Life Orientation Test-Rev…

2017

Patrizia Steca,1 Dario Monzani,1 Antonia Pierobon,2 Giulia Avvenuti,2 Andrea Greco,1 Anna Giardini2 1Department of Psychology, University of Milano – Bicocca, Milan, 2Psychology Unit, Istituti Clinici Scientifici Maugeri Spa SB, IRCCS Montescano, Montescano, Italy Abstract: The Life Orientation Test-Revised (LOT-R) measures dispositional optimism (DO) – an individual difference promoting physical and psychological well-being in healthy adults (HAs) as well as in patients with chronic heart failure (CHF) and healthcare providers (HPs). Controversy has arisen regarding the dimensionality of the LOT-R. Whereas DO was originally defined as a one-dimensional construct, empiri…

Liver and Statins: A Critical Appraisal of the Evidence.

2019

Adverse drug reactions (ADRs) represent an important cause of morbidity and mortality worldwide. Statins are a class of drugs whose main adverse effects are drug-induced liver injury (DILI) and myopathy. Some of these may be predictable, due to their pharmacokinetic and pharmacodynamic properties, while others, unfortunately, are idiosyncratic. Genetic factors may also influence patient susceptibility to DILI and myopathy in the case of statins. This review will first discuss the role of statins in cardiovascular disease treatment and prevention and the underlying mechanisms of action. Furthermore, to explore the susceptibility of statin-induced adverse events such as myopathy and hepatoto…

Role of genetic predisposition as a risk factor for osteoporosis.

2005

Systematic screening for mutations in the human serotonin-2A (5-HT2A) receptor gene: Identification of two naturally occurring receptor variants and …

1996

A statistically significant association between a silent mutation (102T/C) in the serotonin-2A (5-HT2A) receptor gene and schizophrenia has recently been reported in a sample of Japanese patients and healthy controls. This finding suggests that genetic predisposition to schizophrenia may be affected by a functional 5-HT2A receptor variant that is in linkage disequilibrium with 102T/C. In the present study, we have sought to identify genetic variation in the 5-HT2A receptor gene by screening genomic DNA samples from 91 unrelated subjects comprising 45 patients with schizophrenia and 46 healthy controls by using single-strand conformation analysis. We have identified four nucleotide sequence …

Nullité des délibérations : la contrariété à l'intérêt social ne suffit pas

2021

International audience; Note sous Cour de cassation (com.), 13 janvier 2021, n° 18-21.860 (F-P), Société mécanique de précision de Méreau