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Sökning: WFRF:(Rotenberg L)

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1.
  • Helbig, K. L., et al. (författare)
  • De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
  • 2018
  • Ingår i: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 103:5, s. 666-678
  • Tidskriftsartikel (refereegranskat)abstract
    • Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the alpha(1)-subunit of the voltage-gated Ca(V)2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed Ca(V)2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.
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  • Fernandes Portela, Luciana, et al. (författare)
  • Job strain and self-reported insomnia symptoms among nurses : What about the influence of emotional demands and social support?
  • 2015
  • Ingår i: BioMed Research International. - 2314-6133 .- 2314-6141.
  • Tidskriftsartikel (refereegranskat)abstract
    • Job strain, derived from high psychological demands and low job control, is associated with insomnia, but information on the role of emotional demands and social support in this relationship is scarce. The aims of this study were (i) to test the association between job strain and self-reported insomnia symptoms, (ii) to evaluate the combination of emotional demands and job control regarding insomnia symptoms, and (iii) to analyze the influence of social support in these relationships. This cross-sectional study refers to a sample of nurses (N = 3,013 and N = 3,035 for Job Strain and Emotional demand-control model, resp.) working at public hospitals in Rio de Janeiro, Brazil. Data were collected through a self-report questionnaire. The prevalence of insomnia symptoms was 34.3%. Job strain was associated with increased odds for insomnia symptoms (OR: 2.20); the same result was observed with the combination of emotional demands and low job control (OR: 1.99). In both models, the inclusion of low social support combined with high demands and low job control led to increased odds for insomnia symptoms, compared to groups with high social support from coworkers and supervisors. Besides job strain, the study of emotional demands and social support are promising with regards to insomnia symptoms, particularly among nurses.
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4.
  • Griep Härter, Rosane, et al. (författare)
  • Years worked at night and body mass index among registered nurses from eighteen public hospitals in Rio de Janeiro, Brazil
  • 2014
  • Ingår i: BMC Health Services Research. - 1472-6963 .- 1472-6963. ; 14, s. 603-
  • Tidskriftsartikel (refereegranskat)abstract
    • Background: Employees working night shifts are at a greater risk of being overweight or obese. Few studies on obesity and weight gain analyze the years of exposure to night work. The aim of this study was to determine the relationship between the years of exposure to night work and body mass index (BMI) among registered nurses. Methods: A cross-sectional analysis was performed in 18 largest public hospitals in Rio de Janeiro, Brazil. A total of 2,372 registered nurses ( 2,100 women) completed a comprehensive questionnaire concerning sociodemographic, professional, lifestyle, and health behavioral data. Current and past exposures to night shifts as well as BMI values were measured as continuous variables. A gamma regression model was used with an identity link function to establish the association. Results: The association between years of exposure to night work and BMI was statistically significant for both women and men after adjusting for all covariates [beta = 0.036; CI95% = 0.009-0.063) and beta = 0.071 (CI95% = 0.012-0.129), respectively]. The effect of night work was greater among men than women. For example, for those women who have worked at night for 20 years the estimated average BMI was 25.6 kg/m(2) [range, 25.0-26.2]. In relation to men, after 20 years of exposure to night work the estimated average BMI was 26.9 kg/m(2) [range, 25.6-28.1]. Conclusions: These findings suggest that night shift exposure is related to BMI increases. Obesity prevention strategies should incorporate improvements in work environments, such as the provision of proper meals to night workers, in addition to educational programs on the health effects of night work.
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  • Wyrick, J., et al. (författare)
  • Do Two-Dimensional "Noble Gas Atoms" Produce Molecular Honeycombs at a Metal Surface?
  • 2011
  • Ingår i: Nano Letters. - 1530-6992 .- 1530-6984. ; 11:7, s. 2944-2948
  • Tidskriftsartikel (refereegranskat)abstract
    • Anthraquinone self-assembles on Cu(111) into a giant honeycomb network with exactly three molecules on each side. Here we propose that the exceptional degree of order achieved in this system can be explained as a consequence of the confinement of substrate electrons in the pores, with the pore size tailored so that the confined electrons can adopt a noble-gas-like two-dimensional quasi-atom configuration with two filled shells. Formation of identical pores in a related adsorption system (at different overall periodicity due to the different molecule size) corroborates this concept. A combination of photoemission spectroscopy with density functional theory computations (including van der Waals interactions) of adsorbate-substrate interactions allows quantum mechanical modeling of the spectra of the resultant quasi-atoms and their energetics.
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7.
  • Garbulsky, Martin F., et al. (författare)
  • Patterns and controls of the variability of radiation use efficiency and primary productivity across terrestrial ecosystems
  • 2010
  • Ingår i: Global Ecology and Biogeography. - : Wiley-Blackwell. - 1466-8238. ; 19:2, s. 253-267
  • Tidskriftsartikel (refereegranskat)abstract
    • Aim The controls of gross radiation use efficiency (RUE), the ratio between gross primary productivity (GPP) and the radiation intercepted by terrestrial vegetation, and its spatial and temporal variation are not yet fully understood. Our objectives were to analyse and synthesize the spatial variability of GPP and the spatial and temporal variability of RUE and its climatic controls for a wide range of vegetation types. Location A global range of sites from tundra to rain forest. Methods We analysed a global dataset on photosynthetic uptake and climatic variables from 35 eddy covariance (EC) flux sites spanning between 100 and 2200 mm mean annual rainfall and between -13 and 26 degrees C mean annual temperature. RUE was calculated from the data provided by EC flux sites and remote sensing (MODIS). Results Rainfall and actual evapotranspiration (AET) positively influenced the spatial variation of annual GPP, whereas temperature only influenced the GPP of forests. Annual and maximum RUE were also positively controlled primarily by annual rainfall. The main control parameters of the growth season variation of gross RUE varied for each ecosystem type. Overall, the ratio between actual and potential evapotranspiration and a surrogate for the energy balance explained a greater proportion of the seasonal variation of RUE than the vapour pressure deficit (VPD), AET and precipitation. Temperature was important for determining the intra-annual variability of the RUE at the coldest energy-limited sites. Main conclusions Our analysis supports the idea that the annual functioning of vegetation that is adapted to its local environment is more constrained by water availability than by temperature. The spatial variability of annual and maximum RUE can be largely explained by annual precipitation, more than by vegetation type. The intra-annual variation of RUE was mainly linked to the energy balance and water availability along the climatic gradient. Furthermore, we showed that intra-annual variation of gross RUE is only weakly influenced by VPD and temperature, contrary to what is frequently assumed. Our results provide a better understanding of the spatial and temporal controls of the RUE and thus could lead to a better estimation of ecosystem carbon fixation and better modelling.
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8.
  • Harter Griep, R, et al. (författare)
  • Beyond simple approaches to studying the association between work characteristics and absenteeism : Combining the DCS and ERI models
  • 2010
  • Ingår i: Work & Stress. - 0267-8373 .- 1464-5335. ; 24:2, s. 179-195
  • Tidskriftsartikel (refereegranskat)abstract
    • The Demand-Control-Support (DCS) and the Effort-Reward Imbalance (ERI) models assess different psychosocial factors. This study investigates whether a combination of these models increases their ability to predict sickness absence, as compared to results based on each model separately. A cross-sectional study with nursing personnel (N = 1307) in Brazil was performed. Regression analyses were conducted in three stages: analysis of each scale of the models and sickness absences; assessment of the independent association of each model with sickness absences; assessment of the associations of three combinations of models/scales with sickness absences: DC and social support (SS), ERI and overcommitment, and DC and ERI. As regards comparisons between the stress models, ERI was shown to be independently associated with short (up to 9 days) and long (10 days or more) spells of absenteeism. The same result held true for low social support. The combinations DC-ERI and DC-SS were better predictors for short spells than each model/scale separately, whereas for long spells, the combination DC-SS was the best predictor. ERI seems to be a good instrument for predicting absenteeism if used alone, whereas DC performed better when combined with ERI or SS. An improved risk estimation of sickness absences by combining information from the two models was observed.
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