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

Global wealth disparities drive adherence to COVID-safe pathways in head and neck cancer surgery

Peer reviewe

Three-dimensional color doppler: a clinical study in patients with mitral regurgitation

AbstractOBJECTIVESThe purpose of this study was to assess the clinical feasibility of three-dimensional (3D) reconstruction of color Doppler signals in patients with mitral regurgitation.BACKGROUNDTwo-dimensional (2D) color Doppler has limited value in visualizing and quantifying asymmetric mitral regurgitation. Clinical studies on 3D reconstruction of Doppler signals in original color coding have not yet been performed in patients. We have developed a new procedure for 3D reconstruction of color Doppler.METHODSWe studied 58 patients by transesophageal 3D echocardiography. The jet area was assessed by planimetry and the jet volumes by 3D Doppler. The regurgitant fractions, the volumes, and the angiographic degree of mitral regurgitation were assessed in 28 patients with central jets and compared with those of 30 patients with eccentric jets.RESULTSIn all patients, jet areas and jet volumes significantly correlated with the angiographic grading (r = 0.73 and r = 0.90), the regurgitant fraction (r = 0.68 and r = 0.80) and the regurgitant volume (r = 0.66 and r = 0.90). In patients with central jets, significant correlations were found between jet area and angiography (r = 0.86), regurgitant fraction (r = 0.64) and regurgitant volume (r = 0.78). No significant correlations were found between jet area and angiography (r = 0.53), regurgitant fraction (r = 0.52) and regurgitant volume (r = 0.53) in the group of patients with eccentric jets. In contrast, jet volumes significantly correlated with angiography (r = 0.90), regurgitant fraction (r = 0.75) and regurgitant volume (r = 0.88) in the group of patients with eccentric jets.CONCLUSIONSThree-dimensional Doppler revealed new images of the complex jet geometry. In addition, jet volumes, assessed by an automated voxel count, independent of manual planimetry or subjective estimation, showed that 3D Doppler is also capable of quantifying asymmetric jets

Brazilian Flora 2020: Leveraging the power of a collaborative scientific network

International audienceThe shortage of reliable primary taxonomic data limits the description of biological taxa and the understanding of biodiversity patterns and processes, complicating biogeographical, ecological, and evolutionary studies. This deficit creates a significant taxonomic impediment to biodiversity research and conservation planning. The taxonomic impediment and the biodiversity crisis are widely recognized, highlighting the urgent need for reliable taxonomic data. Over the past decade, numerous countries worldwide have devoted considerable effort to Target 1 of the Global Strategy for Plant Conservation (GSPC), which called for the preparation of a working list of all known plant species by 2010 and an online world Flora by 2020. Brazil is a megadiverse country, home to more of the world's known plant species than any other country. Despite that, Flora Brasiliensis, concluded in 1906, was the last comprehensive treatment of the Brazilian flora. The lack of accurate estimates of the number of species of algae, fungi, and plants occurring in Brazil contributes to the prevailing taxonomic impediment and delays progress towards the GSPC targets. Over the past 12 years, a legion of taxonomists motivated to meet Target 1 of the GSPC, worked together to gather and integrate knowledge on the algal, plant, and fungal diversity of Brazil. Overall, a team of about 980 taxonomists joined efforts in a highly collaborative project that used cybertaxonomy to prepare an updated Flora of Brazil, showing the power of scientific collaboration to reach ambitious goals. This paper presents an overview of the Brazilian Flora 2020 and provides taxonomic and spatial updates on the algae, fungi, and plants found in one of the world's most biodiverse countries. We further identify collection gaps and summarize future goals that extend beyond 2020. Our results show that Brazil is home to 46,975 native species of algae, fungi, and plants, of which 19,669 are endemic to the country. The data compiled to date suggests that the Atlantic Rainforest might be the most diverse Brazilian domain for all plant groups except gymnosperms, which are most diverse in the Amazon. However, scientific knowledge of Brazilian diversity is still unequally distributed, with the Atlantic Rainforest and the Cerrado being the most intensively sampled and studied biomes in the country. In times of “scientific reductionism”, with botanical and mycological sciences suffering pervasive depreciation in recent decades, the first online Flora of Brazil 2020 significantly enhanced the quality and quantity of taxonomic data available for algae, fungi, and plants from Brazil. This project also made all the information freely available online, providing a firm foundation for future research and for the management, conservation, and sustainable use of the Brazilian funga and flora