WholeExome Sequencing Reveals Fresh TSPAN12 Versions throughout Autosomal Prominent Familial Exudative Vitreoretinopathy

United States. Sex Med 2021;9100355.
In this population of female cannabis users, risk for sexual dysfunction increased amidst the COVID-19 pandemic and is associated with depression and anxiety symptoms. Bhambhvani HP, Chen T, Wilson-King AM, et al. Female Sexual Function During the COVID-19 Pandemic in the United States. Sex Med 2021;9100355.It is well known that stress elevates intake of total calories and shifts food preference toward unhealthy food choices. There is, however, little known on the physiological mechanisms that drive stress-induced hyperphagia. In order to better understand how to reduce stress eating, it is critical to identify mechanisms in humans that are points of convergence between stress and eating. The feeding-related hormones ghrelin, leptin, glucagon-like peptide-1 (GLP-1), and amylin are likely candidates. It was hypothesized that ghrelin, an orexigenic hormone, would increase in response to an acute laboratory stressor, but that leptin, GLP-1, and amylin (anorexigenic hormones) would decrease after stress. To this aim, participants (n = 47) came into the laboratory and had feeding-related hormones, salivary cortisol and α-amylase, and self-rated anxiety measured. Then they underwent either exposure to a stressor (n = 24), which reliably elevates measures of stress and energy intake, or a no-stress condition (n = 23). Feeding hormones, stress hormones, and self-rated anxiety were measured twice more after the stressor. Elevated self-rated anxiety and α-amylase confirmed the validity of the stressor. Furthermore, there was a time X condition interaction for both ghrelin and GLP-1. Ghrelin was significantly elevated after stress compared to baseline (p = .02) and there was a trend for GLP-1 to be higher in the stress condition over the no-stress condition immediately after the stressor (p = .07). Overall, ghrelin is the most likely candidate driving energy intake after stress in humans.Birds of prey have suffered persecution for centuries through trapping, shooting, poisoning and theft from the wild to meet the demand from egg collectors and falconers; they were also amongst the earliest beneficiaries of DNA testing in wildlife forensics. Here we report the identification and characterisation of 14 novel tetramer, pentamer and hexamer short tandem repeat (STR) markers which can be typed either by capillary electrophoresis or massively parallel sequencing (MPS) and apply them to historical casework samples involving 49 peregrine falcons, 30 of which were claimed to be the captively bred offspring of nine pairs. The birds were initially tested in 1994 with a multilocus DNA fingerprinting probe, a sex test and eight single-locus minisatellite probes (SLPs) demonstrating that 23 birds were unrelated to the claimed parents. The multilocus and SLP approaches were highly discriminating but extremely time consuming and required microgram quantities of high molecular weight DNA and the use of radioiave the potential to resolve complex cases involving trace, mixed and degraded samples from raptor persecution casework representing a significant advance over the previously applied methods.An extensive catalog of common and rare genetic variants contributes to overall risk for schizophrenia and related disorders. As a complement to population genetics efforts, here we present whole genome sequences of multiple affected probands within individual families to search for possible high penetrance driver variants. From a total of 15 families diagnostically evaluated by a single research psychiatrist, we performed whole genome sequencing of a total of 61 affected individuals, called SNPs, indels, and copy number variants, and compared to reference genomes. In fourteen out of fifteen families, the schizophrenia polygenic risk score for each proband was within the control range defined by the Thousand Genomes cohort. In six families, each affected member carried a very rare or private, predicted-damaging, variant in at least one gene. Among these genes, variants in LRP1 and TENM2 suggest these are candidate disease-related genes when taken into context with existing population genetic studies and biological information. Results add to the number of pedigree sequences reported, suggest pathways for the investigation of biological mechanisms, and are consistent with the overall accumulating evidence that very rare damaging variants contribute to the heritability of schizophrenia.We provide one of the first national longitudinal studies of the association between trajectories of marital quality and cognitive functioning among older adults, with close attention paid to gender differences. Data were drawn from the Health and Retirement Study (HRS) 2006-2016. Marital quality trajectories were assessed at three waves 2006/2008, 2010/2012, and 2014/2016. Cognitive trajectories were assessed at five waves 2008, 2010, 2012, 2014, and 2016. The final analytic sample included 7901 respondents age 50 and older (4334 men and 3567 women) who were either married or cohabiting during the study period. Results from parallel linear growth curve models suggest that among older adults, initial positive marital quality was associated with better initial cognition, and initial negative marital quality was associated with worse initial cognition. Results from multiple group analysis further suggest that marital quality was significantly associated with men's cognitive trajectories but not women's. Among men, an increase in positive marital quality was associated with a slower rate of cognitive decline, whereas an increase in negative marital quality was associated with a faster rate of cognitive decline. These findings suggest that older men who experience a decline in marital quality may be vulnerable to cognitive decline and that reducing marital strain and improving marital quality may protect men's cognitive health in later life.Gastrointestinal infections are an important global public health issue. In the UK, one in four people experience a gastrointestinal infection each year and epidemiological research highlights inequalities in the burden of disease. click here Specifically, poorer children are at greater risk of infection and the consequences of illness, such as symptom severity and time off work/school, are greater for less privileged groups of all ages. Gastrointestinal infections are, however, largely 'hidden' within the home and little is known about the lived experience and practices surrounding these illnesses, how they vary across contrasting socioeconomic contexts, or how inequalities in the disease burden across socioeconomic groups might come about. This paper presents data from an ethnographic study which illuminate how socioeconomic inequalities in the physical and material management and consequences of gastrointestinal infections are generated in families with young children. The study shows how the 'work' needed to manage gastrointestinal infections is more laborious for people living in more 'disadvantaged' conditions, exacerbated by more overcrowded homes with fewer washing and toilet facilities; inflexible employment; low household incomes; and higher likelihood of co-morbidities which can be made worse by having a gastrointestinal infection.