Search results for "ExAC"

Gene Rearrangements and Other Molecular Features in Aggressive B-Cell Lymphomas of Patients with and without HIV-Infection

2015

Abstract Aggressive B-cell Lymphomas are the second most frequent AIDS-defining cancers. Few studies have compared the molecular characteristics of aggressive B-cell lymphomas in patients with and without HIV-infection; and to our knowledge, there are no reports comparing the incidence of gene rearrangements between the two groups and their impact on outcome in series treated with RCHOP. We retrospectively studied two series of patients with (N=32) and without HIV-infection (N=43) with diffuse large B-cell lymphomas (DLBCL) NOS (75% and 70%, respectively), T-rich DLCBL (13% and 5%), transformed DLBCL (3% and 14%) and double-hit (DH) DLCBL (9% and 11%) [defined by translocations affecting MY…

Benign intracranial hypertension associated to blood coagulation derangements

2006

Abstract Background Benign Intracranial Hypertension (BIH) may be caused, at least in part, by intracranial sinus thrombosis. Thrombosis is normally due to derangements in blood coagulation cascade which may predispose to abnormal clotting activation or deficiency in natural inhibitors' control. The aim of the study is to examine the strength of the association between risk factors for thrombosis and BIH. Patients and methods The incidence of prothrombotic abnormalities among a randomly investigated cohort of 17 patients with BIH, was compared with 51 healthy subjects matched for sex, age, body mass index, height and social background. Results The number of subjects with protein C deficienc…

2015

Recent data suggest that the traditional definition of bisphosphonate-associated osteonecrosis of the jaw (ONJ) may exclude patients who present with the non-exposed variant of the condition. To test the hypothesis that a proportion of patients with ONJ remain undiagnosed because their symptoms do not conform to the traditional case definition, we did a secondary analysis of data from MISSION (Multicentre study on phenotype, definition and classification of osteonecrosis of the jaws associated with bisphosphonates), a cross-sectional study of a large population of patients with bisphosphonate-associated ONJ who were recruited in 13 European centres. Patients with exposed and non-exposed ONJ…

Reslizumab (RES) in asthma patients (pts) with severe eosinophilic asthma stratified by GINA asthma steps 4 and 5: Analysis of two phase 3, placebo (…

2016

Background: RES reduced exacerbation frequency and improved lung function and asthma control in pts with inadequately controlled asthma and elevated blood eosinophils (EOS) in two PBO-controlled, phase 3 trials (Castro et al. Lancet Resp Med 2015). Aims/objectives: To determine the efficacy of RES in asthma pts stratified by GINA Step 4 (G4) and Step 5 (G5) categories of asthma severity. Methods: Pooled data from two 52-week, PBO-controlled trials of RES (3mg/kg IV Q4W) in pts with inadequately controlled asthma and blood EOS ≥400/µL on inhaled corticosteroid (ICS) ± another controller; primary results have been reported. Current analysis includes pts stratified by G4 (medium/high-dose ICS …

The Symmetry of Lower Back Pain as a Potential Screening Factor for Serious Pathology: A Survey Study

2021

Background: Pain maps provide reliable information on pain location in various conditions. This study explored the feasibility of pain maps as a screening tools for serious underlying conditions. The pain symmetry was evaluated as the possible distinguishing feature. Methods: A Web-based survey on the correlation of pain-related disability and pain pattern was developed. Respondents with lower back pain were asked to mark the exact location of their pain over the pain chart. The symmetry index was calculated and used to divide subjects into two groups that were then compared in terms of the prevalence of red flags for serious pathologies, as well as the pain-related disability measured with…

Influence of prenatal exposure to environmental pollutants on human cord blood levels of glutamate

2013

El pdf del artículo es la versión post-print.

Efficacy and safety of open-label caplacizumab in patients with exacerbations of acquired thrombotic thrombocytopenic purpura in the HERCULES study.

2020

BACKGROUND Acquired thrombotic thrombocytopenic purpura (aTTP) is a rare, life-threatening autoimmune thrombotic microangiopathy. Caplacizumab, an anti-von Willebrand Factor Nanobody® , is effective for treating aTTP episodes and is well tolerated. OBJECTIVES AND METHODS In the phase 3 HERCULES trial (NCT02553317), patients with aTTP received double-blind caplacizumab or placebo during daily therapeutic plasma exchange (TPE) and for ≥30 days thereafter. Patients who experienced an exacerbation while on blinded study drug treatment switched to receive open-label caplacizumab plus re-initiation of daily TPE. Exacerbations were defined as recurrence of disease occurring within 30 days after ce…

Characterising individual response to mepolizumab treatment

2020

Background: Patients with severe eosinophilic asthma (SEA) often have heterogenous phenotypes with periods of asthma worsening, making it difficult to assess mepolizumab treatment response. Aims: To define patient level variables for mepolizumab treatment response. Methods: In this post-hoc analysis we examined mepolizumab response in patients with SEA (≥2 exacerbations in prior year) in the 32-week, randomised, placebo-controlled MENSA study and the following 52-week, open-label COSMOS study. Patients who completed both studies and received mepolizumab throughout were included (n=311). Results: In MENSA, 67% and 21% of patients had 0 or 1 exacerbations, respectively, and were considered re…

Association Between COL5a1, COL11a1, and COL11a2 Gene Variations and Rotator Cuff Tendinopathy in Young Athletes

2021

Objective Tendinopathy is a prevalent condition in young athletes and in older nonathletic people. Recent tendinopathy research has shown a growing interest in the role played by genetic factors, basically genes involved in collagen synthesis and regulation, in view of collagen disorganization typically present in tendon pathologies. Design A case-control, genotype-phenotype association study. Setting La Ribera Hospital, Valencia, Spain. Participants A group of 137 young athletes (49 with rotator cuff tendon pathology and 88 healthy counterparts) who played upper-limb-loading sports were clinically and ultrasound (US) assessed for rotator cuff tendinopathy were included. Intervention Geneti…

Disease control and treatment pathways of asthma patients after initiating ICS/LABA

2019

Introduction: GINA guidelines recommend medium dose (MED) and high dose (HD) ICS/LABA as the preferred controller for step 4 asthma patients and clinicians should consider step up/down based on their patients’ asthma control. Limited data is available on how step 4 patients respond to ICS/LABA and how they step up/down in clinical practice. Methods: We conducted a retrospective cohort study using UK Clinical Practice Research Datalink to assess control status of asthma patients in one year after initiating a MED or HD ICS/LABA between 2007 and 2015, and examined their treatment pathways within one year after the treatment initiation. Results: 29,229 and 16, 575 patients initiated MED and HD…