Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence

Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants. The prevalence of certain ANK2 (encodes ankyrin-B) variants range from 2 percent of European individuals to 8 percent in individuals from West Africa. Ankyrin-B variants associated with severe human arrhythmia phenotypes (eg E1425G, V1516D, R1788W) were rare in the general population. Variants associated with less severe clinical and in vitro phenotypes were unexpectedly common. Studies with the ankyrin-B+/− mouse reveal both benefits of enhanced cardiac contractility, as well as costs in earlier senescence and reduced lifespan. Together these findings suggest a constellation of traits that we term “ankyrin-B syndrome”, which may contribute to both aging-related disorders and enhanced cardiac function

Coronavirus disease 2019 (COVID‐19) and individuals with intellectual and developmental disabilities in Nigeria

This article chronicles the present situation of coronavirus disease 2019 (COVID‐19) on individuals with intellectual and developmental disabilities (IDD) in Nigeria. A systematic search was conducted on three bibliographic databases: MEDLINE Complete, Web of Science and Scopus, and supplemented with grey literature searches to assess studies on the effect of COVID‐19 on these individuals in Nigeria with data on this group from December 2019 to July 2020. There were no studies found concerning individuals with IDD in Nigeria. This article argues for an urgent call to action by Nigerian policymakers to make data available to help understand the impact of COVID‐19 and to develop and implement appropriate interventions. This article provides steps to support and care for these individuals in Nigeria. Forecasting models are recommended which offer better approaches in yielding accurate predictions and provide valuable decisions in the event of future threats and infectious disease outbreak in Nigeria

ApoE elevation is associated with the persistence of psychotic experiences from age 12 to age 18: Evidence from the ALSPAC birth cohort

Apolipoproteins, which play important roles in lipid metabolism, innate immunity and synaptic signalling, have been implicated in first episode psychosis and schizophrenia. This is the first study to investigate plasma apolipoprotein expression in children with psychotic experiences that persist into adulthood. Here, using semi-targeted proteomic analysis we compared plasma apolipoprotein expression levels in age 12 subjects who reported psychotic experiences at both age 12 and age 18 (n = 37) with age-matched subjects who only experienced psychotic experiences (PEs) at age 12 (n = 38). Participants were recruited from the UK Avon Longitudinal Study of Parents and Children (ALSPAC) cohort who participated in psychiatric assessment interviews at ages 12 and 18. We identified apoE, a protein with significant regulatory activity on cholesterol metabolism in the brain, to be significantly up regulated (p < 0.003) in those with persistent psychotic experiences. We confirmed this finding in these samples using ELISA. Our findings indicate elevated plasma apoE in age 12 children who experience PEs is associated with persistence psychotic experiences

Changes in white cell estimates and plasma chemistry measurements following oral or external dosing of double-crested cormorants, \u3ci\u3ePhalacocorax auritus\u3c/i\u3e, with artificially weathered MC252 oil

Scoping studies were designed whereby double-crested cormorants (Phalacocorax auritus) were dosed with artificially weathered Deepwater Horizon (DWH) oil either daily through oil injected feeder fish, or by application of oil directly to feathers every three days. Preening results in oil ingestion, and may be an effective means of orally dosing birds with toxicant to improve our understanding of the full range of physiological effects of oral oil ingestion on birds. Blood samples collected every 5–6 days were analyzed for a number of clinical endpoints including white blood cell (WBC) estimates and differential cell counts. Plasma biochemical evaluations were performed for changes associated with oil toxicity. Oral dosing and application of oil to feathers resulted in clinical signs and statistically significant changes in a number of biochemical endpoints consistent with petroleum exposure. In orally dosed birds there were statistically significant decreases in aspartate amino transferase (AST) and gamma glutamyl transferase (GGT) activities, calcium, chloride, cholesterol, glucose, and total protein concentrations, and increases in plasma urea, uric acid, and phosphorus concentrations. Plasma electrophoresis endpoints (pre-albumin, albumin, alpha-2 globulin, beta globulin, and gamma globulin concentrations and albumin: globulin ratios) were decreased in orally dosed birds. Birds with external oil had increases in urea, creatinine, uric acid, creatine kinase (CK), glutamate dehydrogenase (GLDH), phosphorus, calcium, chloride, potassium, albumin, alpha-1 globulin and alpha-2 globulin. Decreases were observed in AST, beta globulin and glucose. WBC also differed between treatments; however, this was in part driven by monocytosis present in the externally oiled birds prior to oil treatment

Changes in white cell estimates and plasma chemistry measurements following oral or external dosing of double-crested cormorants, \u3ci\u3ePhalacocorax auritus\u3c/i\u3e, with artificially weathered MC252 oil

Scoping studies were designed whereby double-crested cormorants (Phalacocorax auritus) were dosed with artificially weathered Deepwater Horizon (DWH) oil either daily through oil injected feeder fish, or by application of oil directly to feathers every three days. Preening results in oil ingestion, and may be an effective means of orally dosing birds with toxicant to improve our understanding of the full range of physiological effects of oral oil ingestion on birds. Blood samples collected every 5–6 days were analyzed for a number of clinical endpoints including white blood cell (WBC) estimates and differential cell counts. Plasma biochemical evaluations were performed for changes associated with oil toxicity. Oral dosing and application of oil to feathers resulted in clinical signs and statistically significant changes in a number of biochemical endpoints consistent with petroleum exposure. In orally dosed birds there were statistically significant decreases in aspartate amino transferase (AST) and gamma glutamyl transferase (GGT) activities, calcium, chloride, cholesterol, glucose, and total protein concentrations, and increases in plasma urea, uric acid, and phosphorus concentrations. Plasma electrophoresis endpoints (pre-albumin, albumin, alpha-2 globulin, beta globulin, and gamma globulin concentrations and albumin: globulin ratios) were decreased in orally dosed birds. Birds with external oil had increases in urea, creatinine, uric acid, creatine kinase (CK), glutamate dehydrogenase (GLDH), phosphorus, calcium, chloride, potassium, albumin, alpha-1 globulin and alpha-2 globulin. Decreases were observed in AST, beta globulin and glucose. WBC also differed between treatments; however, this was in part driven by monocytosis present in the externally oiled birds prior to oil treatment

Analysis of the 5 iron golf swing when hitting for maximum distance

Most previous research on golf swing mechanics has focused on the driver club. The aim of this study was to identify the kinematic factors that contribute to greater hitting distance when using the 5 iron club. Three-dimensional marker coordinate data were collected (250 Hz) to calculate joint kinematics at eight key swing events, while a swing analyser measured club swing and ball launch characteristics. Thirty male participants were assigned to one of two groups, based on their ball launch speed (high: 52.9 ± 2.1 m · s(-1); low: 39.9 ± 5.2 m · s(-1)). Statistical analyses were used to identify variables that differed significantly between the two groups. Results showed significant differences were evident between the two groups for club face impact point and a number of joint angles and angular velocities, with greater shoulder flexion and less left shoulder internal rotation in the backswing, greater extension angular velocity in both shoulders at early downswing, greater left shoulder adduction angular velocity at ball contact, greater hip joint movement and X Factor angle during the downswing, and greater left elbow extension early in the downswing appearing to contribute to greater hitting distance with the 5 iron club