Search results for "AETIOLOGY"
showing 10 items of 94 documents
Search for neutrino-induced cascades with five years of AMANDA data
2010
Contains fulltext : 97339.pdf (Publisher’s version ) (Closed access) We report on the search for electromagnetic and hadronic showers ("cascades") produced by a diffuse flux of extraterrestrial neutrinos in the AMANDA neutrino telescope. Data for this analysis were recorded during 1001 days of detector livetime in the years 2000-2004. The observed event rates are consistent with the background expectation from atmospheric neutrinos and muons. An upper limit is derived for the diffuse flux of neutrinos of all flavors assuming a flavor ratio of v(e):v(mu):v(tau) = 1:1:1 at the detection site. The all-flavor flux of neutrinos with an energy spectrum Phi proportional to E(-2) is less than 5.0 x…
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…
Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism
2018
Objective: To examine cognitive deficits and associated brain activity in fragile X-associated tremor/ataxia syndrome (FXTAS) patients with parkinsonism (FXTp+), in relation to FXTAS patients without parkinsonism (FXTp-), and normal elderly controls (NC). Methods: Retrospective reviews were performed in 65 FXTAS patients who participated in the event-related brain potential (ERP) study and also had either a videotaped neurological examination or a neurological examination for extrapyramidal signs. Parkinsonism was defined as having bradykinesia with at least one of the following: rest tremor, postural instability, hypermyotonia, or rigidity. Eleven FXTp+ patients were identified and compare…
Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments.
2022
AbstractBackgroundA recent genome-wide association study (GWAS) identified 12 independent loci significantly associated with attention-deficit/hyperactivity disorder (ADHD). Polygenic risk scores (PRS), derived from the GWAS, can be used to assess genetic overlap between ADHD and other traits. Using ADHD samples from several international sites, we derived PRS for ADHD from the recent GWAS to test whether genetic variants that contribute to ADHD also influence two cognitive functions that show strong association with ADHD: attention regulation and response inhibition, captured by reaction time variability (RTV) and commission errors (CE).MethodsThe discovery GWAS included 19 099 ADHD cases …
IL-12 Expands and Differentiates Human Vγ2Vδ2 T Effector Cells Producing Antimicrobial Cytokines and Inhibiting Intracellular Mycobacterial Growth
2019
While IL-12 plays a key role in differentiation of protective CD4+ Th1 response, little is known about mechanisms whereby IL-12 differentiates other T-cell populations. Published studies suggest that predominant Vγ2Vδ2 T cells in humans/nonhuman primates (NHP) are a fast-acting T-cell subset, with capacities to rapidly expand and produce Th1 and cytotoxic cytokines in response to phosphoantigen (E)-4-hydroxy-3-methyl-but-2-enyl pyrophosphate (HMBPP) produced by Mycobacterium tuberculosis (Mtb) or others. However, whether IL-12 signaling pathway mediates fast-acting and Th1 or anti-microbial features of Vγ2Vδ2 T cells remains poorly defined. Here, we show that IL-12, but not other IL-12 fami…
ICUD-EAU International Consultation on Bladder Cancer 2012: Non–Muscle-Invasive Urothelial Carcinoma of the Bladder
2012
Item does not contain fulltext CONTEXT: Our aim was to present a summary of the Second International Consultation on Bladder Cancer recommendations on the diagnosis and treatment options for non-muscle-invasive urothelial cancer of the bladder (NMIBC) using an evidence-based approach. OBJECTIVE: To critically review the recent data on the management of NMIBC to arrive at a general consensus. EVIDENCE ACQUISITION: A detailed Medline analysis was performed for original articles addressing the treatment of NMIBC with regard to diagnosis, surgery, intravesical chemotherapy, and follow-up. Proceedings from the last 5 yr of major conferences were also searched. EVIDENCE SYNTHESIS: The major findi…
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 …
EMAS position statement: Predictors of premature and early natural menopause.
2019
Simoncini, Tommaso/0000-0002-2971-0079; Chung, Hsin-Fang/0000-0003-3261-5942; Mishra, Gita/0000-0001-9610-5904 WOS:000468709100014 PubMed ID: 31027683 Introduction: While the associations of genetic, reproductive and environmental factors with the timing of natural menopause have been extensively investigated, few epidemiological studies have specifically examined their association with premature (< 40 years) or early natural menopause (40-45 years). Aim: The aim of this position statement is to provide evidence on the predictors of premature and early natural menopause, as well as recommendations for the management of premature and early menopause and future research. Materials and methods…
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 …
Endoderm development requires centrioles to restrain p53-mediated apoptosis in the absence of ERK activity
2021
Centrioles comprise the heart of centrosomes, microtubule-organizing centers. To study the function of centrioles in lung and gut development, we genetically disrupted centrioles throughout the mouse endoderm. Surprisingly, removing centrioles from the endoderm did not disrupt intestinal growth or development but blocked lung branching. In the lung, acentriolar SOX2-expressing airway epithelial cells apoptosed. Loss of centrioles activated p53, and removing p53 restored survival of SOX2-expressing cells, lung branching, and mouse viability. To investigate how endodermal p53 activation specifically killed acentriolar SOX2-expressing cells, we assessed ERK, a prosurvival cue. ERK was active t…