Simulated Anthrax Attacks and Syndromic Surveillance

Bioterrorism surveillance systems can be assessed using modeling to simulate real-world attacks

A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

J. Kaprio, A. Palotie, A. Raevuori-Helkamaa ja S. Ripatti ovat työryhmän Eating Disorders Working Group of the Psychiatric Genomics Consortium jäseniä. Erratum in: Sci Rep. 2017 Aug 21;7(1):8379, doi: 10.1038/s41598-017-06409-3We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 x 10(-7); OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.Peer reviewe

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

Genome-wide association studies (GWASs) have identified hundreds of susceptibility genes, including shared associations across clinically distinct autoimmune diseases. We performed an inverse χ(2) meta-analysis across ten pediatric-age-of-onset autoimmune diseases (pAIDs) in a case-control study including more than 6,035 cases and 10,718 shared population-based controls. We identified 27 genome-wide significant loci associated with one or more pAIDs, mapping to in silico-replicated autoimmune-associated genes (including IL2RA) and new candidate loci with established immunoregulatory functions such as ADGRL2, TENM3, ANKRD30A, ADCY7 and CD40LG. The pAID-associated single-nucleotide polymorphisms (SNPs) were functionally enriched for deoxyribonuclease (DNase)-hypersensitivity sites, expression quantitative trait loci (eQTLs), microRNA (miRNA)-binding sites and coding variants. We also identified biologically correlated, pAID-associated candidate gene sets on the basis of immune cell expression profiling and found evidence of genetic sharing. Network and protein-interaction analyses demonstrated converging roles for the signaling pathways of type 1, 2 and 17 helper T cells (TH1, TH2 and TH17), JAK-STAT, interferon and interleukin in multiple autoimmune diseases

Overactive bladder is associated with erectile dysfunction and reduced sexual quality of life in men

ntroduction. The prevalence of sexual dysfunction, including erectile dysfunction (ED), is greater in men with lower urinary tract symptoms (LUTS), including overactive bladder (OAB), than in men without LUTS. Aim. To evaluate the prevalence of ED, the impact of urinary symptoms on sexual activity and sexual enjoyment, and sexual satisfaction in men with OAB. Methods. A nested case-control analysis was performed on data from a subset of men with (cases) and without (controls) OAB frequency-matched for age (5-year age strata) and country from the EPIC study. Respondents were asked about OAB symptoms (using the 2002 International Continence Society [ICS] definitions) and sexual activity. Sexually active respondents were asked about ED, sexual enjoyment, and overall satisfaction with their sex lives. Conditional logistic regression was used to assess factors associated with ED. Main Outcome Measures. The percentage of cases and controls reporting ED, a reduction in the frequency of sexual activity or enjoyment of sexual activity because of urinary symptoms, and overall satisfaction with their sex lives was determined for cases and controls. Results. A total of 502 cases and 502 controls were matched for age strata and country. Significantly more cases (14%) reported reduced sexual activity because of urinary symptoms compared with controls (4%; P 640.05). Among sexually active respondents, cases were significantly more likely to have ED than were controls (prevalence odds ratio, 1.5; 95% confidence interval, 1.1-2.2); the prevalence of ED was similar to that for men with hypertension or diabetes. Significantly more cases (15%) reported decreased enjoyment of sexual activity because of urinary symptoms relative to controls (2%; P 640.05), and significantly fewer cases were satisfied with their sex lives (81% vs. 90%; P 640.05). Conclusions. OAB, as defined by the ICS, was significantly associated with increased prevalence of ED, reduced sexual activity and sexual enjoyment because of urinary symptoms, and reduced sexual satisfaction

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper

Social Identity and the Handicapping Functions of Stereotypes: Children's Understanding of Mental and Physical Handicap

32 junior high pupils (mean age 10.3 yrs) used the terms "mental handicap," "physical handicap," and the colloquial term "divvy" in a pilot study that explored the Ss' understanding of different forms of disability and handicap. In the main study, 48 junior high school students (mean age 10.15 yrs) rated a male target child ascribed one of these labels (or the label "normal"), and completed a measure of social distance from that target. Ss did not distinguish among the attributes of the different nonnormal labels, but did differentiate between these and normal, showing that they generally employed a "normal/abnormal" categorization of others, In line with predictions derived from social identity theory (H. Tajfel, 1981), social stereotypes were unaffected by interpersonal contact

The Specificity of Nitroxyl Chemistry Is Unique Among Nitrogen Oxides in Biological Systems

The importance of nitric oxide in mammalian physiology has been known for nearly 30 years. Similar attention for other nitrogen oxides such as nitroxyl (HNO) has been more recent. While there has been speculation as to the biosynthesis of HNO, its pharmacological benefits have been demonstrated in several pathophysiological settings such as cardiovascular disorders, cancer, and alcoholism. The chemical biology of HNO has been identified as related to, but unique from, that of its redox congener nitric oxide. A summary of these findings as well as a discussion of possible endogenous sources of HNO is presented in this review. Antioxid. Redox Signal. 14, 1659–1674