Search results for "STING"
showing 10 items of 3756 documents
Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.
2012
Abstract Objectives Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD). Design and methods We carried out high resolution melting analysis (HRM) and DNA sequencing of all the exons of the GLA gene. We also assayed the alpha-galactosidase A activity in patients' blood. Results In some members of one family, we identified a new mutation in the GLA gene, c.614delC. This is a deletion of a single nucleotide, a cytosine, in exon 4 of the gene which causes a frameshift mutation. Conclusions Patients with the c.614delC mu…
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study
2018
Abstract Background and aims Familial hypercholesterolemia (FH) is an inherited disorder characterized by high levels of blood cholesterol from birth and premature coronary heart disease. Thus, the identification of FH patients is crucial to prevent or delay the onset of cardiovascular events, and the availability of a tool helping with the diagnosis in the setting of general medicine is essential to improve FH patient identification. Methods This study evaluated the performance of the Dutch Lipid Clinic Network (DLCN) score in FH patients enrolled in the LIPIGEN study, an Italian integrated network aimed at improving the identification of patients with genetic dyslipidaemias, including FH.…
Bed-side inferior vena cava diameter and mean arterial pressure predict long-term mortality in hospitalized patients with heart failure: 36 months of…
2015
In discharged patients with heart failure (HF), diverse conditions can intervene to worsen outcome. We would investigate whether such factors present on hospital admission can affect long-term mortality in subjects hospitalized for acute HF.One hundred twenty-three consecutive patients hospitalized for acute HF (mean age 74.8 years; 57% female) were recruited and followed for 36 months after hospitalization.At multivariate Cox model, only inferior vena cava (IVC) diameter and mean arterial pressure (MAP) registered bed-side on admission, resulted, after correction for all confounders factors, the sole factors significantly associated with a higher risk of all-cause mortality in long-term (H…
The use of statins in people at risk of developing diabetes mellitus: Evidence and guidance for clinical practice
2014
Reducing low-density lipoprotein cholesterol (LDL-C) levels using statins is associated with significant reductions in cardiovascular (CV) events in a wide range of patient populations. Although statins are generally considered to be safe, recent studies suggest they are associated with an increased risk of developing Type 2 diabetes (T2D). This led the US Food and Drug Administration (FDA) to change their labelling requirements for statins to include a warning about the possibility of increased blood sugar and HbA1c levels and the European Medicines Agency (EMA) to issue guidance on a small increased risk of T2D with the statin class. This review examines the evidence leading to these clai…
Global Lung Function Initiative 2012 reference values for spirometry in South Italian children
2017
Rationale Despite the widespread use of the Global Lung Function Initiative (GLI) 2012 reference values, there is still the need of testing their applicability in local areas. Objectives The aims of this study are to evaluate applicability of GLI reference equations in a large population-based sample of normal schoolchildren from Sicily, and to compare GLI and previous prediction equations in terms of spirometry test interpretation. Methods GLI equations were evaluated in 1243 normal schoolchildren, 49% males, aged 7â16 years, height 116â187 cm. Normality assumptions for the GLI z-scores (FEV1, FVC, FEV1/FVC) were tested, and bootstrap confidence intervals for the mean (0 expected) and …
Authors’ response
2012
Claudio Sorino,1,2 Salvatore Battaglia,1 Nicola Scichilone,1 Claudio Pedone,3 Raffaele Antonelli-Incalzi,3 Duane Sherrill,4 Vincenzo Bellia11Biomedical Department of Internal and Specialist Medicine, Section of Pulmonology, University of Palermo, Italy; 2Division of Pulmonology, S Anna Hospital, Como, Italy; 3Chair of Geriatrics, University Campus Bio-Medico, Roma, Italy; 4Mel and Enid Zuckerman College of Public Health, University of Arizona, Tucson, AZ, USABackground: The choice between lower limit of normal or fixed value of forced expiratory volume in one second/forced vital capacity ratio (FEV1/FVC) < 0.70 as the criterion for confirming airway obstruction is an open issue. In t…
Pulmonary function and complications after laparoscopic cholecystectomy
1998
Objective: To investigate the impairment of pulmonary function and complications after laparoscopic compared with open cholecystectomy through an upper midline incision.Design: Prospective randomised trial.Setting: Teaching hospital, Spain.Subjects: 40 patients, 20 in each group.Interventions: Clinical examination, spirometry, arterial blood gas analysis, and chest radiographs before and after operation.Results: 48 hours postoperatively FVC and FEV had decreased to 56.7% and 53%, respectively, in the patients who had had open cholecystectomy, compared with 85.3% and 84.8% in the laparoscopic group (p < 0.0001). The mean (SD) postoperative percentage reductions in both Pa02 (86.1 (11.1) comp…
A flexible approach to the crossing hazards problem
2010
We propose a simple and flexible framework for the crossing hazards problem. The method is not confined to two-sample problems, but may also work with continuous exposure variables whose effect changes its sign at some time-point of the observed follow-up time. Penalized partial likelihood estimation relies upon the assumption of a smooth hazard ratio via low-rank basis splines with a conventional difference penalty to ensure smoothness, and additional ad hoc penalties to obtain restricted estimates useful in the context of crossing hazards. The framework naturally also leads to a statistical test that has good power for revealing a global effect under several alternatives, including crossi…
The antidepressant-like effect of tDCS in mice: A behavioral and neurobiological characterization
2017
Abtract Background Transcranial direct current stimulation (tDCS) is a non-invasive method increasingly popular for the treatment of several brain disorders, such as major depression. Despite great enthusiasm and promising results, some studies report discrepant findings and no consensus exists for the clinical use of tDCS. Objective The present study aims to (i) determine the most effective stimulation parameters to optimize antidepressant-like effect of tDCS in the forced-swim test in mice and (ii) identify brain regions recruited by tDCS and possibly involved in its behavioral effect using Fos immunohistochemistry. Results We reported that tDCS induced long-lasting antidepressant-like ef…
Trends and outcome of neoadjuvant treatment for rectal cancer: A retrospective analysis and critical assessment of a 10-year prospective national reg…
2021
Introduction: Preoperative treatment and adequate surgery increase local control in rectal cancer. However, modalities and indications for neoadjuvant treatment may be controversial. Aim of this study was to assess the trends of preoperative treatment and outcomes in patients with rectal cancer included in the Rectal Cancer Registry of the Spanish Associations of Surgeons. Method: This is a STROBE-compliant retrospective analysis of a prospective database. All patients operated on with curative intention included in the Rectal Cancer Registry were included. Analyses were performed to compare the use of neoadjuvant/adjuvant treatment in three timeframes: I)2006–2009; II)2010–2013; III)2014–2…