67 research outputs found
Characterization of an N-terminal Na v 1.5 channel variant - a potential risk factor for arrhythmias and sudden death?
No full textBACKGROUND
Alterations in the SCN5A gene encoding the cardiac sodium channel Na1.5 have been linked to a number of arrhythmia syndromes and diseases including long-QT syndrome (LQTS), Brugada syndrome (BrS) and dilative cardiomyopathy (DCM), which may predispose to fatal arrhythmias and sudden death. We identified the heterozygous variant c.316A > G, p.(Ser106Gly) in a 35-year-old patient with survived cardiac arrest. In the present study, we aimed to investigate the functional impact of the variant to clarify the medical relevance.
METHODS
Mutant as well as wild type GFP tagged Na1.5 channels were expressed in HEK293 cells. We performed functional characterization experiments using patch-clamp technique.
RESULTS
Electrophysiological measurements indicated, that the detected missense variant alters Nav1.5 channel functionality leading to a gain-of-function effect. Cells expressing S106G channels show an increase in Na1.5 current over the entire voltage window.
CONCLUSION
The results support the assumption that the detected sequence aberration alters Na1.5 channel function and may predispose to cardiac arrhythmias and sudden cardiac death
Entosphenus tridentatus
No full textEntosphenus tridentatus (Richardson, 1837). Pacific Lamprey. To 85 cm (33.5 in) TL (Orlov et al. 2008b). Honshu (Orlov et al. 2008b), and Hokkaido, Japan (Nakabo in Nakabo 2002); eastern Chukchi Sea (Mecklenburg et al. 2002), and Bering Sea to Punta Canoas, northern Baja California (Miller and Lea 1972), and likely to Isla Clarión, and Islas Revillagigedo, Mexico (Renaud 2008). Southernmost freshwater occurrence is currently in the Big Sur River, central California (Reid and Goodman 2016). Depth: at sea, near surface to 1,508 m (4,946 ft) (min.: Eschmeyer and Herald 1983; max.: Hoff and Britt 2003). Anadromous, may be found at sea, often far offshore, any time of the year. Previously as Lampetra tridentata (Richardson, 1836). The author of the species description is sometimes given as Gairdner, or Gairdner in Richardson, but authorship evidently is correct as Richardson, or Richardson (ex Gairdner) (Eschmeyer 1998 and online edition 8 November 2004).Published as part of Love, Milton S., Bizzarro, Joseph J., Cornthwaite, Maria, Frable, Benjamin W. & Maslenikov, Katherine P., 2021, Checklist of marine and estuarine fishes from the Alaska-Yukon Border, Beaufort Sea, to Cabo San Lucas, Mexico, pp. 1-285 in Zootaxa 5053 (1) on page 12, DOI: 10.11646/zootaxa.5053.1.1, http://zenodo.org/record/557800
Physical activity promotion in the primary care setting in pre- and type 2 diabetes - the Sophia step study, an RCT
No full textabstract: Background
Physical activity prevents or delays progression of impaired glucose tolerance in high-risk individuals. Physical activity promotion should serve as a basis in diabetes care. It is necessary to develop and evaluate health-promoting methods that are feasible as well as cost-effective within diabetes care. The aim of Sophia Step Study is to evaluate the impact of a multi-component and a single component physical activity intervention aiming at improving HbA[subscript 1c] (primary outcome) and other metabolic and cardiovascular risk factors, physical activity levels and overall health in patients with pre- and type 2 diabetes.
Methods/design
Sophia Step Study is a randomized controlled trial and participants are randomly assigned to either a multi-component intervention group (A), a pedometer group (B) or a control group (C). In total, 310 patients will be included and followed for 24 months. Group A participants are offered pedometers and a website to register steps, physical activity on prescription with yearly follow-ups, motivational interviewing (10 occasions) and group consultations (including walks, 12 occasions). Group B participants are offered pedometers and a website to register steps. Group C are offered usual care. The theoretical framework underpinning the interventions is the Health Belief Model, the Stages of Change Model, and the Social Cognitive Theory. Both the multi-component intervention (group A) and the pedometer intervention (group B) are using several techniques for behavior change such as self-monitoring, goal setting, feedback and relapse prevention.
Measurements are made at week 0, 8, 12, 16, month 6, 9, 12, 18 and 24, including metabolic and cardiovascular biomarkers (HbA[subscript 1c] as primary health outcome), accelerometry and daily steps. Furthermore, questionnaires were used to evaluate dietary intake, physical activity, perceived ability to perform physical activity, perceived support for being active, quality of life, anxiety, depression, well-being, perceived treatment, perceived stress and diabetes self- efficacy.
Discussion
This study will show if a multi-component intervention using pedometers with group- and individual consultations is more effective than a single- component intervention using pedometers alone, in increasing physical activity and improving HbA[subscript 1c], other metabolic and cardiovascular risk factors, physical activity levels and overall health in patients with pre- and type 2 diabetes.The electronic version of this article is the complete one and can be found online at: https://bmcpublichealth.biomedcentral.com/articles/10.1186/s12889-015-1941-
Reallocating bouted sedentary time to non-bouted sedentary time, light activity and moderate-vigorous physical activity in adults with prediabetes and type 2 diabetes
No full textabstract: Aim
The aim of this study was to investigate the potential associations of reallocating 30 minutes sedentary time in long bouts (>60 min) to sedentary time in non-bouts, light intensity physical activity (LPA) and moderate- to vigorous physical activity (MVPA) with cardiometabolic risk factors in a population diagnosed with prediabetes or type 2 diabetes.
Methods
Participants diagnosed with prediabetes and type 2 diabetes (n = 124, 50% men, mean [SD] age = 63.8 [7.5] years) were recruited to the physical activity intervention Sophia Step Study. For this study baseline data was used with a cross-sectional design. Time spent in sedentary behaviors in bouts (>60 min) and non-bouts (accrued in <60 min bouts) and physical activity was measured using the ActiGraph GT1M. Associations of reallocating bouted sedentary time to non-bouted sedentary time, LPA and MVPA with cardiometabolic risk factors were examined using an isotemporal substitution framework with linear regression models.
Results
Reallocating 30 minutes sedentary time in bouts to MVPA was associated with lower waist circumference (b = -4.30 95% CI:-7.23, -1.38 cm), lower BMI (b = -1.46 95% CI:-2.60, -0.33 kg/m2) and higher HDL cholesterol levels (b = 0.11 95% CI: 0.02, 0.21 kg/m[superscript 2]. Similar associations were seen for reallocation of sedentary time in non-bouts to MVPA. Reallocating sedentary time in bouts to LPA was associated only with lower waist circumference.
Conclusion
Reallocation of sedentary time in bouts as well as non-bouts to MVPA, but not to LPA, was beneficially associated with waist circumference, BMI and HDL cholesterol in individuals with prediabetes and type 2 diabetes. The results of this study confirm the importance of reallocation sedentary time to MVPA.The article is published at http://journals.plos.org/plosone/article?id=10.1371/journal.pone.018105
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
No full textThe QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD
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