A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

Monitoring of hand function enabled by low complexity sensors printed on textile

Development of inexpensive, disposable, use-at-home, personalised health wearables can revolutionise clinical trial design and clinical care. Recent approaches have focused on electronic skins, which are complex systems of sensors and wiring produced by integration of multiple materials and layers. The requirement for high-end clean room microfabrication techniques create challenges for the development of such devices. Drawing inspiration from the ancient art of henna tattoos, where an artist draws designs directly on the hand by extruding a decorative ink, we developed a simple strategy for direct writing (3D printing) of bioelectronic sensors on textile. The sensors are realised using a very limited set of low-cost inks composed only of graphite flakes and silicone. By adapting sensor architectures in two dimensions, we produced electromyography (EMG), strain and pressure sensors. The sensors are printed directly onto stretchable textile (cotton) gloves and function as an integrated multimodal monitoring system for hand function. Gloves demonstrated functionality and stability by recording simultaneous readings of pinch strength, thumb movement (flexion) and EMG of the abductor pollicis brevis muscle over 5 days of daily recordings. Our approach is targeted towards a home based monitoring of hand function, with potential applications across a range of neurological and musculoskeletal conditions

Erosão em entressulcos sob caatinga e culturas agrícolas Interrill erosion under shrub and crop systems

Dentre as formas de erosão hídrica do solo, a erosão em entressulcos é uma das que causam maiores danos no processo produtivo dos solos utilizados na agricultura, por provocar perdas de solo, água e nutrientes. Frente a isso, o presente trabalho visou avaliar a proteção ambiental promovida pela cobertura vegetal da caatinga, do feijão-guandu (Cajanus cajan) e da batata-doce (Ipomoea batatas Lam) em relação ao solo descoberto, bem como o efeito das práticas de cultivos dessas culturas, por meio das taxas da erosão em entressulcos e das características hidráulicas do escoamento superficial vinculado à erosão em entressulcos, em um Luvissolo. Para isso, foi implementada uma série de 20 chuvas simuladas em Serra Talhada, município do semi-árido do Estado de Pernambuco, sob os seguintes tratamentos: (1) solo descoberto; (2) solo coberto pela cultura do feijão-guandu (Cajanus cajan); (3) solo coberto pela cultura da batata-doce (Ipomoea batatas Lam.); (4) solo coberto por Caatinga semi-arbustiva. Todos os regimes de escoamento superficial obtidos foram laminar lento. As coberturas vegetais proporcionadas pela Caatinga e pelo guandu, que deram origem aos maiores valores de cobertura do solo, responderam pelas menores taxas de concentração de sedimentos e desagregação do solo na erosão em entressulcos, em decorrência da maior rugosidade hidráulica da superfície do solo promovida por essas vegetações. As taxas de concentração de sedimentos no cultivo da batata-doce foram iguais às do solo descoberto, por conta do revolvimento do solo na preparação das leiras de plantio, e determinou as maiores taxas de desagregação do solo entre as coberturas vegetais; em contrapartida, as leiras permitiram retenção do escoamento superficial. As coberturas vegetais Caatinga, guandu e batata-doce e as respectivas rugosidades hidráulicas impostas ao escoamento superficial determinaram reduções exponenciais das perdas de solo. A cobertura vegetal da Caatinga semi-arbustiva proporcionou o menor coeficiente de escoamento superficial (C = 0,32), em decorrência de sua maior cobertura do solo, da maior resistência hidráulica e do não-revolvimento do solo.<br>Among the different forms of water erosion, interrill erosion is one of the most deleterious to the productivity of soils used in agriculture, causing losses of soil, water and nutrients. This study sought to evaluate the efficiency of environmental protection by the Shrub cover types caatinga, Guandu (Cajanus cajan) and sweet potato (Ipomoea potatoes Lam) as compared to bare soil, as well as the effect of these crops on the interrill erosion and hydraulic properties of surface runoff in a Inceptisol. For this purpose, a series of 20 simulated rainfall events in Serra Talhada - PE, Brazil, semiarid area, on the following treatments: (1) bare soil; (2) soil covered with Guandu (Cajanus cajan); (3) soil covered with sweet potato (Ipomoea potatoes Lam.); (4) soil covered with caatinga (dry forest vegetation). All runoff flow regimes were laminar and slow. The lowest rates of sediment concentration and soil detachment in the interrills were observed for caatinga and Guandu covers, the species with the highest values of soil cover, due to the higher hydraulic soil surface roughness of these crops. The sediment concentration rates in sweet potato were equal to those of bare soil, due to soil revolving to prepare the planting furrows and the rates of soil detachment were the highest of all plant covers; on the other hand, the furrows retained surface runoff. Similarly, the plant covers caatinga, Guandu and sweet potato with the respective hydraulic roughness restricting runoff resulted in exponential reductions of soil losses. The runoff coefficient in the soil covered by caatinga vegetation was the lowest (0.2) due to the greatest soil cover, roughness and absence of soil tillage