Search results for "POPULATION"
showing 10 items of 9945 documents
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
2018
ObjectiveTo describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified.MethodsPatients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed.ResultsEighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys mutations. Both BIN1 variants have only been identified in Roma, causing 100% of CNM in this ethnic group in our cohort. The haplotype analysis confi…
Application of 1H NMR-based serum metabolomic studies for monitoring female patients with rheumatoid arthritis
2015
AbstractRheumatoid arthritis is a chronic autoimmune-based inflammatory disease that leads to progressive joint degeneration, disability, and an increased risk of cardiovascular complications, which is the main cause of mortality in this population of patients. Although several biomarkers are routinely used in the management of rheumatoid arthritis, there is a high demand for novel biomarkers to further improve the early diagnosis of rheumatoid arthritis, stratification of patients, and the prediction of a better response to a specific therapy.In this study, the metabolomics approach was used to provide relevant biomarkers to improve diagnostic accuracy, define prognosis and predict and mon…
One year of training with FES has impressive beneficial effects in a 36-year-old woman with spinal cord injury
2015
International audience; CONTEXT:Reductions of muscular and cardiorespiratory functions are often observed in people with spinal cord injury (SCI) and several studies demonstrated the benefits of aerobic and strengthening exercise training for this population. Functional Electrical Stimulation (FES) of paralyzed muscles has been proposed as a strategy to assist patients in executing functional movement but its utilization during long durations has never been investigated. The purpose of the present study was to assess the effects of a one-year training program with FES (strengthening and rowing) in one subject with SCI. Evoked torque, quadriceps muscle thickness, aerobic exercise capacity an…
The Association of Appendectomy, Adhesions, Tubal Pathology, and Female Infertility.
2019
Background and Objectives: The aim of the study was to investigate a potential association between previous childhood appendectomy, tube pathology, and female infertility. Methods: We reviewed patients seeking care at the fertility clinic of our university medical center between 2006 and 2016. The history of previous appendectomy was extracted from hospital documentation and by telephone follow-up. Tubal patency was assessed by diagnostic laparoscopy and chromopertubation. Results: In our study cohort (N = 237), 24.9% (n = 59) had a history of previous appendectomy. Previous appendectomy, therefore, was about 3-fold more prevalent in women seeking fertility treatment than in the general pop…
Development of a Brief Form of the Interpersonal Reactivity Index (B–IRI)
2016
ABSTRACTThe Interpersonal Reactivity Index (IRI) is a standardized self-report measure of disposition to empathic responsiveness for the general adult population (the domain for which it was developed), and for the general adolescent population. The IRI has a number of problems, however, including some uncertainty about its factor structure, low reliabilities, and poor readability of some items for people with limited literacy skills. To address these issues, we constructed an abbreviated form of the index, the Brief IRI (B–IRI). Three studies demonstrated that this 16-item B–IRI has a clear and coherent factor structure, adequate internal consistency, measurement invariance across gender a…
Intervenciones individuales para mejorar la adherencia al tratamiento farmacéutico, la dieta y la actividad física en adultos con hipertensión primar…
2020
Introduction Hypertension is a chronic disease with 31% worldwide prevalence in adults. It has been associated with non-adherence to therapeutic regime with a negative impact on the prognosis of the disease and healthcare-associated costs. So, it is necessary to identify effective interventions to improve adherence among the afflicted population. The objective of this protocol is to describe the methods for a systematic review that will evaluate the effect of individual interventions so as to improve adherence to the prescribed pharmacological treatment, as well as to prescribed diet and physical activity in adults with primary hypertension. Methods and analysis A systematic search of studi…
Recurrent episodes of skin angioedema and severe attacks of abdominal pain induced by oral contraceptives or hormone replacement therapy
2003
Abstract Purpose Recurrent angioedema, characterized by skin swelling, colicky attacks of abdominal pain, and life-threatening laryngeal edema, can be either hereditary or acquired. According to anecdotal reports, it may be associated with use of oral contraceptives and hormone replacement therapy. We investigated potential interactions between these medications and various types of recurrent angioedema in a large cohort of women. Methods Women with recurrent angioedema (n = 516) underwent a thorough medical evaluation. They were then classified by type of angioedema, using standard criteria. Results Of the 516 women, 228 (44%) had used oral contraceptives or hormone replacement therapy, in…
Risk assessment and monitoring programme of nitrates through vegetables in the Region of Valencia (Spain)
2017
This study was carried out to determine current levels of nitrate in vegetables marketed in the Region of Valencia (Spain) and to estimate the toxicological risk associated with their intake. A total of 533 samples of seven vegetable species were studied. Nitrate levels were derived from the Valencia Region monitoring programme carried out from 2009 to 2013 and food consumption levels were taken from the first Valencia Food Consumption Survey, conducted in 2010. The exposure was estimated using a probabilistic approach and two scenarios were assumed for left-censored data: the lower-bound scenario, in which unquantified results (below the limit of quantification) were set to zero and the up…
Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients …
2003
Few data are available on genotype-phenotype interactions among familial hypercholesterolemia (FH) patients in South European populations and there are no data about the influence of R3500Q mutation on lipoprotein phenotype compared to low-density lipoprotein receptor (LDLR) mutations. The objective of the study is to analyze the influence of mutations in the LDLR and apolipoprotein B (apoB) genes on lipoprotein phenotype among subjects clinically diagnosed of FH living in East Spain. In all, 113 FH index patients and 100 affected relatives were studied. Genetic diagnosis was carried out following a protocol based on Southern blot and PCR-SSCP analysis. A total of 118 FH subjects could be c…
Invasive meningococcal disease in Italy: from analysis of national data to an evidence-based vaccination strategy
2020
Introduction. Invasive meningococcal disease (IMD) is one of the most severe vaccine-preventable diseases not yet under control. In Italy, although different anti-meningococcal vaccines are available, their offer among regions is heterogeneous. The aim of this study is to describe the epidemiology of IMD in Italy based on analysis of national surveillance data for 2011–2017 to optimize the vaccination strategy. Methods: IMD surveillance data from the Italian National Health Institute were analysed. Microsoft Excel was used to present trend analysis, stratifying by age and serogroups. Results: In Italy, during the period 2011–2017, the incidence of IMD increased from 0.25 cases/100,000 inhab…