Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyper-activity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders, identifying three groups of inter-related disorders. Meta-analysis across these eight disorders detected 109 loci associated with at least two psychiatric disorders, including 23 loci with pleiotropic effects on four or more disorders and 11 loci with antagonistic effects on multiple disorders. The pleiotropic loci are located within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes. These findings have important implications for psychiatric nosology, drug development, and risk prediction.Peer reviewe

Mediji i nasilje: aktualno stanje u znanosti

I danas istraživanje teme o medijima i nasilju pokazuje mnoge nedostatnosti. Primjerice, mnoge studije još uvijek istražuju iste tematske aspekte istim metodama, uz samo neznatne modifi kacije. Napredak u spoznaji istraživanja također je slab. Te studije sve više razvijaju posebno postavljena pitanja i analiziraju ih pomoću složenih načina istraživanja, čiji su nalazi jedva pogodni za interpretaciju. Osim toga, premalo se postojeća ispitivanja nadograđuju jedno na drugo, tako da je teško i djelomice nemoguće heterogeno stanje istraživanja sklopiti u sveobuhvatnu sliku. Unatoč svemu, može se ustvrditi da je znanje o uvjetima pod kojima nasilje u medijima može imati prije svega utjecaj na djecu i mlade ljude, u međuvremenu znatno napredovalo.Today’s extensive media consumption, especially by children, is presupposed. Children consume media of audiovisual characteristics, such as television programming or computer games—media that oftentimes distinguish themselves with acts of violence. In our daily lives, we see spectacular images of real violence. This every-day reality contributes to the discussion of the connections between media and violence. Oftentimes, media violence seems to be the main, quick “common sense’’ explanation for today’s violent acts. On the basis of existing fi ndings, there is scientifi c agreement that media violence can have negative effects, especially in stabilizing the violent structure of personalities when determined marginal circumstances are present. The thesis of this paper, however, is that existing studies’ correlations showing the connections between violence and the media are very weak

Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study

Background: In individuals suffering from a rare disease the diagnostic process and the confirmation of a final diagnosis often extends over many years. Factors contributing to delayed diagnosis include health care professionals' limited knowledge of rare diseases and frequent (co-)occurrence of mental disorders that may complicate and delay the diagnostic process. The ZSE-DUO study aims to assess the benefits of a combination of a physician focusing on somatic aspects with a mental health expert working side by side as a tandem in the diagnostic process. Study design: This multi-center, prospective controlled study has a two-phase cohort design. Methods: Two cohorts of 682 patients each are sequentially recruited from 11 university-based German Centers for Rare Diseases (CRD): the standard care cohort (control, somatic expertise only) and the innovative care cohort (experimental, combined somatic and mental health expertise). Individuals aged 12 years and older presenting with symptoms and signs which are not explained by current diagnoses will be included. Data will be collected prior to the first visit to the CRD's outpatient clinic (T0), at the first visit (T1) and 12 months thereafter (T2). Outcomes: Primary outcome is the percentage of patients with one or more confirmed diagnoses covering the symptomatic spectrum presented. Sample size is calculated to detect a 10 percent increase from 30% in standard care to 40% in the innovative dual expert cohort. Secondary outcomes are (a) time to diagnosis/diagnoses explaining the symptomatology; (b) proportion of patients successfully referred from CRD to standard care; (c) costs of diagnosis including incremental cost effectiveness ratios; (d) predictive value of screening instruments administered at T0 to identify patients with mental disorders; (e) patients' quality of life and evaluation of care; and f) physicians' satisfaction with the innovative care approach. Conclusions: This is the first multi-center study to investigate the effects of a mental health specialist working in tandem with a somatic expert physician in CRDs. If this innovative approach proves successful, it will be made available on a larger scale nationally and promoted internationally. In the best case, ZSE-DUO can significantly shorten the time to diagnosis for a suspected rare disease