Assessing for interaction between ε4, sex, and lifestyle on cognitive abilities.

Objective: To test for interactions between ε4 genotype and lifestyle factors on worse cognitive abilities in UK Biobank.

Methods: Using UK Biobank cohort data, we tested for interactions between ε4 allele presence, lifestyle factors of alcohol intake, smoking, total physical activity and obesity, and sex, on cognitive tests of reasoning, information processing speed, and executive function (n range = 70,988-324,725 depending on the test). We statistically adjusted for potential confounders of age, sex, deprivation, cardiometabolic conditions, and educational attainment.

Is Enhancement the Price of Prevention in Human Gene Editing?

New gene-editing tools challenge conventional policy proscriptions of research aimed at either human germline gene editing or human enhancement by potentially lowering technical barriers to both kinds of intervention. Some recent gene-editing reports have begun to take up the prospect of germline editing, but most experts are in broad agreement that research should prioritize medical applications over attempts to enhance human traits. However, there is little consensus about what counts as human enhancement in this context, or how to deal with the issues it flags.

Management of Peripapillary Choroidal Neovascular Membrane in Patients With Idiopathic Intracranial Hypertension.

Objective: To report the clinical features and treatment outcomes of patients with peripapillary choroidal neovascular membrane (CNVM) secondary to idiopathic intracranial hypertension (IIH).

Methods: Retrospective, multicenter chart review of patients diagnosed with peripapillary CNVM in the course of the treatment and follow-up of IIH.

Results: Records were reviewed from 7 different institutions between 2006 and 2016.

First international descriptive and interventional survey for cholesterol and non-cholesterol sterol determination by gas- and liquid-chromatography-Urgent need for harmonisation of analytical methods.

Serum concentrations of lathosterol, the plant sterols campesterol and sitosterol and the cholesterol metabolite 5α-cholestanol are widely used as surrogate markers of cholesterol synthesis and absorption, respectively. Increasing numbers of laboratories utilize a broad spectrum of well-established and recently developed methods for the determination of cholesterol and non-cholesterol sterols (NCS). In order to evaluate the quality of these measurements and to identify possible sources of analytical errors our group initiated the first international survey for cholesterol and NCS.

Association between APOE e4 and white matter hyperintensity volume, but not total brain volume or white matter integrity.

Apolipoprotein (APOE) e4 genotype is an accepted risk factor for accelerated cognitive aging and dementia, though its neurostructural substrates are unclear. The deleterious effects of this genotype on brain structure may increase in magnitude into older age. This study aimed to investigate in UK Biobank the association between APOE e4 allele presence vs.

The Combination of Physical Activity and Sedentary Behaviors Modifies the Genetic Predisposition to Obesity.

Objective: This study aimed to investigate whether the association between a validated genetic profile risk score for BMI (GPRS-BMI) (based on 93 single-nucleotide polymorphisms) and phenotypic obesity (BMI) was modified by the combined categories of physical activity (PA) and sedentary behaviors in a large population-based study.

Methods: This study included cross-sectional baseline data from 338,216 white European adult men and women aged 37 to 73 years. Interaction effects of GPRS-BMI with the combined categories of PA and sedentary behaviors on BMI were investigated.

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics.

Beckwith-Wiedemann syndrome (BWS) is caused due to the disturbance of imprinted genes at chromosome 11p15. The molecular confirmation of this syndrome is possible in approximately 85% of the cases, whereas in the remaining 15% of the cases, the underlying defect remains unclear. The goal of our research was to identify new epigenetic loci related to BWS.

Healthy workers or less healthy leavers? Mortality in military veterans.

Background: The 'healthy worker effect' predicts that longer employment is positively associated with reduced mortality, but few studies have examined mortality in military veterans irrespective of exposure to conflict.

Aims: To examine mortality in a large national cohort of Scottish veterans by length of service.

Methods: Retrospective cohort study comparing survival in up to 30-year follow-up among 57 000 veterans and 173 000 people with no record of service, matched for age, sex and area of residence, who were born between 1945 and 1985.

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.

Background/aims: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restriction, short stature, hypotonia, small hands and feet and precocious puberty. We sought to determine whether treatment with growth hormone improves growth outcomes in patients with Temple syndrome.

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes.

Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50-70% of patients.

A framework for genomics-informed ecophysiological modeling in plants.

Dynamic process-based plant models capture complex physiological response across time, carrying the potential to extend simulations out to novel environments and lend mechanistic insight to observed phenotypes. Despite the translational opportunities for varietal crop improvement that could be unlocked by linking natural genetic variation to first principles-based modeling, these models are challenging to apply to large populations of related individuals. Here we use a combination of model development, experimental evaluation, and genomic prediction in Brassica rapa L.

Dose-response associations of cardiorespiratory fitness with all-cause mortality and incidence and mortality of cancer and cardiovascular and respiratory diseases: the UK Biobank cohort study.

Objective: To investigate the association of cardiorespiratory fitness with all-cause mortality, and cardiovascular disease (CVD), respiratory disease, chronic obstructive pulmonary disease (COPD) and cancer mortality and incidence.

Design: Prospective population-based study.

Setting: UK Biobank.

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects.

During reproductive age, approximately one in seven couples are confronted with fertility problems. While the aetiology is diverse, including infections, metabolic diseases, hormonal imbalances and iatrogenic effects, it is becoming increasingly clear that genetic factors have a significant contribution. Due to the complex nature of infertility that often hints at a multifactorial cause, the search for potentially causal gene mutations in idiopathic infertile couples has remained difficult.

The lifetime prevalence of hospitalised head injury in Scottish prisons: A population study.

Background: There is mounting evidence that associates brain injury and offending behaviour, and there is a need to understand the epidemiology of head injury in prisoners in order to plan interventions to reduce associated disability and risk of reoffending. This is the first study to determine the lifetime prevalence of hospitalised head injury (HHI) in a national population of current prison inmates. In addition characteristics of prisoners with HHI and were compared to prisoners without HHI to discover whether those with HI differed demographically.

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact.

Genomic imprinting, the monoallelic and parent-of-origin-dependent expression of a subset of genes, is required for normal development, and its disruption leads to human disease. Imprinting defects can involve isolated or multilocus epigenetic changes that may have no evident genetic cause, or imprinting disruption can be traced back to alterations of cis-acting elements or trans-acting factors that control the establishment, maintenance and erasure of germline epigenetic imprints. Recent insights into the dynamics of the epigenome, including the effect of environmental factors, suggest that the developmental outcomes and heritability of imprinting disorders are influenced by interactions between the genome, the epigenome and the environment in germ cells and early embryos.

An evaluation of the effects of lowering blood alcohol concentration limits for drivers on the rates of road traffic accidents and alcohol consumption: a natural experiment.

Background: Drink driving is an important risk factor for road traffic accidents (RTAs), which cause high levels of morbidity and mortality globally. Lowering the permitted blood alcohol concentration (BAC) for drivers is a common public health intervention that is enacted in countries and jurisdictions across the world. In Scotland, on Dec 5, 2014, the BAC limit for drivers was reduced from 0·08 g/dL to 0·05 g/dL.

Guidelines for the Treatment of PTSD Using Clinical EFT (Emotional Freedom Techniques).

Clinical EFT (Emotional Freedom Techniques) is an evidence-based method that combines acupressure with elements drawn from cognitive and exposure therapies. The approach has been validated in more than 100 clinical trials. Its efficacy for post-traumatic stress disorder (PTSD) has been investigated in a variety of demographic groups including war veterans, victims of sexual violence, the spouses of PTSD sufferers, motor accident survivors, prisoners, hospital patients, adolescents, and survivors of natural and human-caused disasters.

Examining the ocular fundus in neurology.

Purpose Of Review: The funduscopic examination can be a technically difficult, and often omitted, portion of the neurologic examination, despite its great potential to influence patient care.

Recent Findings: Medical practitioners are often first taught to examine the ocular fundus using a direct ophthalmoscope, however, this skill requires frequent practice. Nonmydriatic tabletop and portable fundus photography and even smartphone-based photography offer alternative and practical means for approaching examination of the ocular fundus.

Serious Adverse Events Reported with Dietary Supplement Use in the United States: A 2.5 Year Experience.

Dietary supplement marketers assure the safety of their products by complying with current good manufacturing practices and a host of federal regulations, including those enforced by the Food and Drug Administration (FDA). Post-market surveillance is a key part of identifying safety problems associated with dietary supplement products. FDA requires dietary supplement marketers to provide a domestic address or phone number on product labels for consumers, family members, or health care professionals to report adverse events (AEs) associated with product use and to report all serious adverse events (SAEs) to the agency within 15 business days of receipt.

Kinetic Delay in Partitioning and Parallel Particle Pathways: Underappreciated Aspects of Environmental Transport.

We outline the general conditions under which chemicals of high hydrophobicity or, more generally, high partition ratios (HPRs) in water or air, may experience unexpectedly long kinetic delays in approaching equilibrium conditions with organic media. Such a "hydrophobic delay" in the case of K or an "aerophobic" delay in the case of K may be misinterpreted as being caused by a change in partitioning behavior or mechanism, resulting in development of nonlinear regression models describing intermedia partitioning. In fact, the partitioning is fundamentally linear but is distorted by a kinetic delay in partitioning.