Search results for " Aetiology"
showing 5 items of 15 documents
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
2013
Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…
Detección precoz de la hipoacusia, influencia en el diagnóstico y en el tratamiento temprano
2021
Detección precoz de la hipoacusia, influencia en el diagnóstico y en el tratamiento temprano. INTRODUCCIÓN: La hipoacusia es el déficit sensorial mas frecuente en los países desarrollados. La prevalencia de cualquier grado de hipoacusia es de un 2-3 % de la población infantil y el 80% de las mismas, está presente al nacimiento. Los programa de screening auditivo (SA) se justifican por la alta incidencia de la hipoacusia y sus consecuencias devastadoras para el lenguaje cuando no se detecta precozmente. OBJETIVO: Establecer el número de niños diagnosticados de hipoacusia congénita gracias al SA en el hospital Universitario La Fe. Analizamos las técnicas utilizadas en el cribado, los parámetr…
Is prolonged febrile syndrome associated with reactive thrombocytosis a possible association in the diagnosis of Takayasu’s arteritis? A case report
2021
Takayasu’s arteritis is a rare, systemic, inflammatory vasculitis of large blood vessels with an unknown aetiology that more frequently affects women of childbearing age with progression to stenosis, fibrosis or thrombogenesis. Clinical manifestations are associated either with inflammation of the vascular wall (including fever, myalgia, arthralgia, weight loss) or the development of aneurysms and extensive vascular lesions, which creates challenges for a differential diagnosis. This current report presents the case of a female Caucasian patient, aged 23 years, that presented herself repetitively at the hospital reporting symptoms including fever, productive cough, myalgia associated with …
A common biological basis of obesity and nicotine addiction
2013
Contains fulltext : 128630.pdf (Publisher’s version ) (Open Access) Smoking influences body weight such that smokers weigh less than non-smokers and smoking cessation often leads to weight increase. The relationship between body weight and smoking is partly explained by the effect of nicotine on appetite and metabolism. However, the brain reward system is involved in the control of the intake of both food and tobacco. We evaluated the effect of single-nucleotide polymorphisms (SNPs) affecting body mass index (BMI) on smoking behavior, and tested the 32 SNPs identified in a meta-analysis for association with two smoking phenotypes, smoking initiation (SI) and the number of cigarettes smoked …
Common variants at VRK2 and TCF4 conferring risk of schizophrenia
2011
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…