Search results for "FRAM"

Plectin-related scapuloperoneal myopathy with treatment-responsive myasthenic syndrome

2020

A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer

2005

A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequen…

Influence of the APOA5 locus on plasma triglyceride, lipoprotein subclasses, and CVD risk in the Framingham Heart Study

2004

Several polymorphisms in the APOA5 gene have been associated with increased plasma triglyceride (TG) concentrations. However, associations between APOA5 and lipoprotein subclasses, remnant-like particles (RLPs), and cardiovascular disease (CVD) risk have been less explored. We investigated associations of five APOA5 single-nucleotide polymorphisms (SNPs; −1131T>C, −3A>G, 56C>G IVS3+ 476G>A, and 1259T>C) with lipoprotein subfractions and CVD risk in 1,129 men and 1,262 women participating in the Framingham Heart Study. Except for the 56C>G SNP, the other SNPs were in significant linkage disequilibria, resulting in three haplotypes (11111, 22122, and 11211) representing 98% of the population.…

Riskard 2005. New tools for prediction of cardiovascular disease risk derived from Italian population studies.

2005

Abstract Background and aim The need to update tools for the estimate of cardiovascular risk prompted the “Gruppo di Ricerca per la Stima del Rischio Cardiovascolare in Italia” to produce a new chart and new software called Riskard 2005. Methods and results Data from 9 population studies in 8 Italian regions, for a grand total of 17,153 subjects (12,045 men and 5,108 women) aged 35–74 and for a total exposure of about 194,000 person/years were available. A chart for the estimate of cardiovascular risk (major coronary, cerebrovascular and peripheral artery disease events) in 10 years was produced for men and women aged 45–74 free from cardiovascular diseases. Risk factors employed in the est…

A new risk score to assess atrial fibrillation risk in hypertensive patients (ESCARVAL-RISK Project.

2020

AbstractThis study aimed to assess atrial fibrillation (AF) incidence and predictive factors in hypertensive patients and to formulate an AF risk assessment score that can be used to identify the patients most likely to develop AF. This was a cohort study of patients recruited in primary healthcare centers. Patients aged 40 years or older with hypertension, free of AF and with no previous cardiovascular events were included. Patients attended annual visits according to clinical practice until the end of study or onset of AF. The association between AF incidence and explanatory variables (age, sex, body mass index, medical history and other) was analyzed. Finally, 12,206 patients were includ…

Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods

2015

International audience; Calreticulin (CALR) mutations have recently been reported in 70-84% of JAK2V617F-negative myeloproliferative neoplasms (MPN), and this detection has become necessary to improve the diagnosis of MPN. In a large single-centre cohort of 298 patients suffering from Essential Thrombocythemia (ET), the JAK2V617F, CALR and MPL mutations were noted in 179 (60%), 56 (18.5%) and 13 (4.5%) respectively. For the detection of the CALR mutations, three methods were compared in parallel: high-resolution melting-curve analysis (HRM), product-sizing analysis and Sanger sequencing. The sensitivity for the HRM, product-sizing analysis and Sanger sequencing was 96.4%, 98.2% and 89.3% re…

Prognostic Relevance of Cardiorespiratory Fitness as Assessed by Submaximal Exercise Testing for All-Cause Mortality: A UK Biobank Prospective Study

2020

Objective: To investigate if the inverse associations of cardiorespiratory fitness (CRF) with all-cause and cardiovascular mortality in the general population vary among individuals who are at different pre-test risk. Patients and Methods: CRF was assessed through submaximal bike tests in 58,892 participants aged 40-69 years who completed baseline questionnaires between January 1, 2006 and December 31, 2010 in the UK Biobank study. Participants were categorized into risk categories, which determined allocation to an individualized bike protocol. These were “minimal risk (1)”, “small risk (2)” and “medium risk (3)” groups (i.e., those who cycled at 50%, 35% of predicted maximal workload and …

Sprint mechanics evaluation using inertial sensor-based technology: A laboratory validation study.

2018

Advances in micro-electromechanical systems have turned magnetic inertial measurement units (MIMUs) into a suitable tool for vertical jumping biomechanical evaluation. Thus, this study aimed to determine whether appropriate reliability and agreement reports could also be obtained when analyzing 20-m sprint mechanics. Four bouts of 20-m sprints were evaluated to determine whether the data provided by a MIMU placed at the lumbar spine could reliably assess sprint mechanics and to examine the validity of the MIMU sensor compared to force plate recordings. Maximal power (P0), force (F0), and velocity (V0), as well as other mechanical determinants of sprint performance associated with the force-…

Jump Height from Inertial Recordings : A Tutorial for a Sports Scientist

2019

Jump performance provides meaningful information both for sporting and clinical needs. Current state-of-the-art in jump performance assessment is laboratory-bound, however, out-of-the-laboratory methods are desirable. Therefore, the purposes of the present investigation were 1) to explore whether utilising a novel analytical approach minimises the bias between inertial recording unit (IMU)-based and jump mat-based jump height estimates, and 2) to provide a thorough tutorial for a sport scientist (see appendix) to facilitate standardisation of jump height estimation. Forty one women, men and boys aged 6 to 77 years-of-age completed three maximal counter movement jumps without arm swing, whic…

Ethical assessment of hepatitis C virus treatment: The lesson from first generation protease inhibitors

2015

Abstract Since chronic hepatitis C has mostly become curable, issues concerning choice and allocation of treatment are of major concern. We assessed the foremost ethical issues in hepatitis C virus therapy with 1st generation protease inhibitors using the personalist ethical framework within the health technology assessment methodology. Our aim was to identify values at stake/in conflict and to support both the physicians’ choices in hepatitis C therapy and social (macro-) allocation decision-making. The ethical assessment indicates that: (1) safety/effectiveness profile of treatment is guaranteed if its use is restricted to the patients subgroups who may benefit from it; (2) patients shoul…