Search results for "origin"
showing 10 items of 4356 documents
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia
2009
Context: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).Objective: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.Results: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent epis…
Does Implementation Follow Design? A Case Study of a Workplace Health Promotion Program Using the 4-S Program Design and the PIPE Impact Metric Evalu…
2017
Objective: The aim of this study was to describe the content of a multiyear market-based workplace health promotion (WHP) program and to evaluate design and implementation processes in a real-world setting. Methods: Data was collected from the databases of the employer and the service provider. It was classified using the 4-S (Size, Scope, Scalability, and Sustainability) and PIPE Impact Metric (Penetration, Implementation) models. Data analysis utilized both qualitative and quantitative methods. Results: Program design covered well the evidence-informed best practices except for clear path toward sustainability, cooperation with occupational health care, and support from middle-management …
Different prognosis in hospitalized patients with influenza one season after the pandemic H1N1 influenza of 2009-2010 in Spain
2013
Background The present report compares prognosis in hospitalized cases with the H1N1 pandemic virus in two seasons. Methods Two series of hospitalized patients with laboratory-confirmed H1N1 pandemic influenza have been compared: 813 in the season 2009–2010 and 707 in the season 2010–2011. A detailed history of variables preceding hospital admission and during hospitalization was obtained by interview and clinical charts. A combined endpoint of death admission to intensive care was used as outcome due to the low number of deaths. Logistic regression was applied in the analysis for adverse outcome. Results Patients of the second season had different characteristics than in the first one (old…
The applicability of SRTM in [18F]fallypride PET investigations: Impact of scan durations
2011
The high-affinity radioligand [18F]fallypride (FP) is frequently used for quantification of striatal/extrastriatal D2/3 receptors and the receptor occupancies of antipsychotics (APs). Its 110 minutes half-life allows long scan durations. However, the optimum scan duration is a matter of debate. This investigation focuses on scan-duration-related effects on simplified reference tissue model (SRTM) results and the time point of transient equilibrium in a large sample of dynamic FP positron emission tomography (PET) scans. Fifty drug-free and 50 AP-treated subjects underwent FP-PET scans (180 minutes scan duration). The binding potential ( BPND) of the putamen, thalamus, and temporal cortex w…
A dominant gene for developmental dyslexia on chromosome 3.
2001
Developmental dyslexia is a neurofunctional disorder characterised by an unexpected difficulty in learning to read and write despite adequate intelligence, motivation, and education. Previous studies have suggested mostly quantitative susceptibility loci for dyslexia on chromosomes 1, 2, 6, and 15, but no genes have been identified yet. We studied a large pedigree, ascertained from 140 families considered, segregating pronounced dyslexia in an autosomal dominant fashion. Affected status and the subtype of dyslexia were determined by neuropsychological tests. A genome scan with 320 markers showed a novel dominant locus linked to dyslexia in the pericentromeric region of chromosome 3 with a m…
Motor recruitment during action observation: Effect of interindividual differences in action strategy
2020
Abstract Visual processing of other’s actions is supported by sensorimotor brain activations. Access to sensorimotor representations may, in principle, provide the top-down signal required to bias search and selection of critical visual features. For this to happen, it is necessary that a stable one-to-one mapping exists between observed kinematics and underlying motor commands. However, due to the inherent redundancy of the human musculoskeletal system, this is hardly the case for multijoint actions where everyone has his own moving style (individual motor signature—IMS). Here, we investigated the influence of subject’s IMS on subjects’ motor excitability during the observation of an actor…
The Role of Meaning in Life Within the Relations of Religious Coping and Psychological Well-Being.
2014
The purpose of this study was to examine whether meaning in life understood in terms of presence, search, and personal meaning is a mediator in the relationships between religious coping and psychological well-being. Associations of religiousness and psychological well-being are complex and suggest the existence of meaning and purpose in their internal structures. Two studies were conducted. In Study 1, presence of meaning in life was a mediator between negative coping and psychological well-being in the scope of a total score and all its dimensions. Search for meaning in life did not mediate the above relations. In Study 2, personal meaning turned out to be a partial mediator between negat…
Knowledge and training needs on built environment and indoor health of Italian public health residents: a national survey
2017
Introduction The Working Group for Hygiene of Built Environment and the National Council of Residents of the Italian Society of Hygiene, Preventive Medicine and Public Health conducted a nation-wide survey to evaluate the knowledge and training needs on built environment and indoor health of Italian public health residents. Results The compliance was very high (52,4%) covering all the Italian postgraduate schools. The results underline important lacks of theoretical formation and practical training, but also a certain inhomogeneity across the country and show a strong interest of residents on this topic. Conclusions The authors propose the adoption a national core curriculum and suggest som…
Logistic regression of attitudes and coverage for influenza vaccination among Italian Public Health medical residents
2014
Introduction. A few number of literature specifically addresses vaccination uptake among Public Health Residents (PHRs). Influ- enza vaccine attitudes and risk perceptions of PHRs across Italy were studied, contributing to literature on influenza vaccination uptake predictors, in particular among young physicians. Methods. An online survey was conducted in 25 Schools of Public Health in Italy in 2011-2012. Results were analysed using preva- lence and logistic regression methods. Results. A total of 365 Italian public health residents were included in the study. Vaccination uptake was confirmed by 22.2 and 33.2% of PHRs in 2010-2011 and 2011-2012, respectively. For the 2010-2011 influenza se…
Refined cytogenetic-risk categorization for overall and leukemia-free survival in primary myelofibrosis: a single center study of 433 patients.
2011
We have previously identified sole +9, 13q- or 20q-, as 'favorable' and sole +8 or complex karyotype as 'unfavorable' cytogenetic abnormalities in primary myelofibrosis (PMF). In this study of 433 PMF patients, we describe additional sole abnormalities with favorable (chromosome 1 translocations/duplications) or unfavorable (-7/7q-) prognosis and also show that other sole or two abnormalities that do not include i(17q), -5/5q-, 12p-, inv(3) or 11q23 rearrangement are prognostically aligned with normal karyotype, which is prognostically favorable. These findings were incorporated into a refined two-tired cytogenetic-risk stratification: unfavorable and favorable karyotype. The respective 5-y…