Search results for "Ande"

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients

2000

Friedreich's ataxia is caused by mutations in the FRDA gene that encodes frataxin, a nuclear-encoded mitochondrial protein. Most patients are homozygous for the expansion of a GAA triplet repeat within the FRDA gene, but a few patients show compound heterozygosity for a point mutation and the GAA-repeat expansion. We analyzed DNA samples from a cohort of 241 patients with autosomal recessive or isolated spinocerebellar ataxia for the GAA triplet expansion. Patients heterozygous for the GAA expansion were screened for point mutations within the FRDA coding region. Molecular analyses included the single-strand conformation polymorphism analysis, direct sequencing, and linkage analysis with FR…

Harmonization of real-world studies in multiple sclerosis: Retrospective analysis from the rirems group

2020

Background: Worldwide multiple sclerosis (MS) centers have coordinated their efforts to use data acquired in clinical practice for real-world observational studies. In this retrospective study, we aim to harmonize outcome measures, and to evaluate their heterogeneity within the Rising Italian Researchers in MS (RIReMS) study group. Methods: RIReMS members filled in a structured questionnaire evaluating the use of different outcome measures in clinical practice. Thereafter, thirty-four already-published papers from RIReMS centers were used for heterogeneity analyses, using the DerSimonian and Laird random-effects method to compute the between-study variance (τ2). Results: Based on questionna…

Blood levels of nitric oxide and DNA breaks assayed in whole blood and isolated peripheral blood mononucleated cells in patients with multiple sclero…

2019

Abstract Oxidative stress, especially overproduction of nitric oxide (NO), is considered to be one of the crucial factors in the pathogenesis of multifactorial multiple sclerosis (MS). DNA breaks could be one of the consequences of oxidative stress; however, data on DNA breakage in MS are very few and contradictory. There are no data on direct measurements of NO production in the blood of MS patients. The goal of this study was to determine the level of single-stranded DNA breaks in whole blood or isolated peripheral blood mononuclear cells (PBMNCs) by means of alkaline single cell gel electrophoresis (comet assay) and to evaluate production of NO in the human blood by applying electron par…

Reductions in circulating endocannabinoid 2-arachidonoylglycerol levels in healthy human subjects exposed to chronic stressors

2016

Increasing evidence indicates that chronic stress, such as social isolation, plays an important role in the development of a variety of psychiatric and somatic disorders. Meanwhile, chronic stress imposed by prolonged isolation and confinement in the spacecraft is also one of the major concerns for the health of future interplanetary space travelers. Preclinical studies suggest that the peripheral endocannabinoid (eCB) system is involved in the regulation of the stress response and eCB signaling is implicated in the pathogenesis of stress-related diseases. However, there are only few human studies addressing this topic, of which most focusing on patients who have already developed a certain…

Quizartinib versus salvage chemotherapy in relapsed or refractory FLT3-ITD acute myeloid leukaemia (QuANTUM-R): a multicentre, randomised, controlled…

2019

Background Patients with relapsed or refractory FLT3 internal tandem duplication (FLT3-ITD)-positive acute myeloid leukaemia have a poor prognosis, including high frequency of relapse, poorer response to salvage therapy, and shorter overall survival than those with FLT3 wild-type disease. We aimed to assess whether single-agent quizartinib, an oral, highly potent and selective type II FLT3 inhibitor, improves overall survival versus salvage chemotherapy. Methods QuANTUM-R is a randomised, controlled, phase 3 trial done at 152 hospitals and cancer centres in 19 countries. Eligible patients aged 18 years or older with ECOG performance status 0-2 with relapsed or refractory (duration of first …

Measuring deterioration in international classification of functioning domains of people with multiple sclerosis who are ambulatory.

2007

Background and PurposeMeasures to detect important effects related to physical therapy interventions must be able to detect an important change. The purpose of this study was to select the most responsive physical functioning measures for multiple sclerosis (MS) using the International Classification of Functioning, Disability and Health (ICF) as a framework.SubjectsThe participants were 120 people with MS who were ambulatory from a population-based sample.MethodsPhysical functioning was assessed by quantitative clinical measures of activities (n=5) and body functions (n=7) and by self-reported performance in self-care, mobility, and domestic life domains in the activities and participation…

Levels and variables associated with psychological distress during confinement due to the coronavirus pandemic in a community sample of Spanish adults

2020

Due to the COVID-19 pandemic's consequences and the state of alarm, literature has shown that people worldwide have experienced severe stressors that have been associated with increased prevalence of emotional distress. In this study, we explored psychological distress (depression, anxiety, and somatization symptoms) using an online survey platform in a sample of 1,781 Spanish adults during the confinement due to COVID-19, relationships between distress and sleep problems, affect, pain, sleep, emotional regulation, gender, type of housing, history of psychopathology, and living alone during the confinement, and differences depending on demographic and psychological variables. Results showed…

Emotional and Behavioral Consequences of the COVID-19 Pandemic: The Role of Health Anxiety, Intolerance of Uncertainty, and Distress (In)Tolerance.

2020

The COVID-19 pandemic represents a worldwide threat to mental health. To optimize the allocation of health care resources, research on specific vulnerability factors, such as health anxiety, intolerance of uncertainty, and distress (in)tolerance, and particularly their effect on the time course of SARS-CoV-2 related anxiety appears crucial for supporting high risk groups suffering from elevated mental distress during the pandemic. N = 887 participants (78.4% female

Incidence of severe COVID-19 outcomes in psoriatic patients treated with systemic therapies during the pandemic: A Biobadaderm cohort analysis

2021

Social factors related to the clinical severity of influenza cases in Spain during the A (H1N1) 2009 virus pandemic

2013

Abstract Background During the 2009 influenza pandemic, a change in the type of patients most often affected by influenza was observed. The objective of this study was to assess the role of individual and social determinants in hospitalizations due to influenza A (H1N1) 2009 infection. Methods We studied hospitalized patients (cases) and outpatients (controls) with confirmed influenza A (H1N1) 2009 infection. A standardized questionnaire was used to collect data. Variables that might be related to the hospitalization of influenza cases were compared by estimation of the odds ratio (OR) and 95% confidence intervals (CI) and the variables entered into binomial logistic regression models. Resu…