The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

The interface between assisted reproductive technologies (ART) and genetics comprises several sensitive and important issues that affect infertile couples, families with severe genetic diseases, potential children, professionals in ART and genetics, health care, researchers and the society in general. Genetic causes have a considerable involvement in infertility. Genetic conditions may also be transmitted to the offspring and hence create transgenerational infertility or other serious health problems. Several studies also suggest a slightly elevated risk of birth defects in children born following ART. Preimplantation genetic diagnosis (PGD) has become widely practiced throughout the world for various medical indications, but its limits are being debated. The attitudes towards ART and PGD vary substantially within Europe. The purpose of the present paper was to outline a framework for development of guidelines to be issued jointly by European Society of Human Genetics and European Society of Human Reproduction and Embryology for the interface between genetics and ART. Technical, social, ethical and legal issues of ART and genetics will be reviewed.JRC.J.5-Agriculture and Life Sciences in the Econom

Hydrological control of large hurricane-induced lahars: evidence from rainfall-runoff modeling, seismic and video monitoring

Abstract. The Volcán de Colima, one of the most active volcanoes in Mexico, is commonly affected by tropical rains related to hurricanes that form over the Pacific Ocean. In 2011, 2013 and 2015 hurricanes Jova, Manuel and Patricia, respectively, triggered tropical storms that deposited up to 400 mm of rain in 36 h, with maximum intensities of 50 mm h −1. The effects were devastating, with the formation of multiple lahars along La Lumbre and Montegrande ravines, which are the most active channels in sediment delivery on the south-southwest flank of the volcano. Deep erosion along the river channels and several marginal landslides were observed, and the arrival of block-rich flow fronts resulted in damages to bridges and paved roads in the distal reaches of the ravines. The temporal sequence of these flow events is reconstructed and analyzed using monitoring data (including video images, seismic records and rainfall data) with respect to the rainfall characteristics and the hydrologic response of the watersheds based on rainfall-runoff numerical simulation. For the studied events, lahars occurred 5–6 h after the onset of rainfall, lasted several hours and were characterized by several pulses with block-rich fronts and a maximum flow discharge of 900 m3 s −1. Rainfall-runoff simulations were performer using the SCS-curve number and the Green–Ampt infiltration models, providing a similar result in the detection of simulated maximum watershed peaks discharge. Results show different behavior for the arrival times of the first lahar pulses that correlate with the simulated catchment's peak discharge for La Lumbre ravine and with the peaks in rainfall intensity for Montegrande ravine. This different behavior is related to the area and shape of the two watersheds. Nevertheless, in all analyzed cases, the largest lahar pulse always corresponds with the last one and correlates with the simulated maximum peak discharge of these catchments. Data presented here show that flow pulses within a lahar are not randomly distributed in time, and they can be correlated with rainfall peak intensity and/or watershed discharge, depending on the watershed area and shape. This outcome has important implications for hazard assessment during extreme hydro-meteorological events, as it could help in providing real-time alerts. A theoretical rainfall distribution curve was designed for Volcán de Colima based on the rainfall and time distribution of hurricanes Manuel and Patricia. This can be used to run simulations using weather forecasts prior to the actual event, in order to estimate the arrival time of main lahar pulses, usually characterized by block-rich fronts, which are responsible for most of the damage to infrastructure and loss of goods and lives

Communication in Implantable Medical Devices: FEM Simulation to Evaluate the Coating Effects on Transmission

Implantable medical devices hold great promise for treating nervous system disorders. However, their small size requires communication with an external device to process electrophysiological signals. The transmission of these signals is often hindered by biocompatible encapsulation materials and surrounding biological tissues. This study uses FEM simulations in COMSOL Multiphysics to assess how the device’s coating and biological tissues affect 2.4 GHz data transmission, a frequency within the ISM band for implantable device communications. A compact Planar Inverted-F Antenna (PIFA) is used, and S11/S22 parameters are calculated to assess transmission efficiency. Since the coating layer hinders transmission depending on its thickness and material properties, simulations were conducted using three different body types representing varying Body Mass Index (BMI) levels to account for inter-patient variability. Implant safety was evaluated by calculating the Specific Absorption Rate (SAR) and the local temperature increase. The results presented in this work serve as a pilot study to assess the effects of encapsulation materials on wireless communication in implantable devices, laying the groundwork for future ex vivo and in vivo research

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition

Comparison of Imaging and Data Prediction Compression Methods for Implanted Real-Time Peripheral Nervous System

This study focuses on the problem of reducing the transmission rate of electroneurographic (ENG) signals for implantable medical devices. Such devices represent a significant innovation in the healthcare sector. We examine seven compression algorithms by implementing a variety of techniques that includes, among the others, image compression and predictors. Our results show that Fractal Compression (FC) and Vector Quantization (VQ) algorithms are the most effective, with a low value of percentage root difference (PRD), acceptable Compression Ratio (CR), and temporal redundancy. The analysis suggests that the optimal time window for compression should be between 10 ms and 50 ms. Our findings indicate that the FC and VQ algorithms could be suitable for real-time application, opening promising avenues for future research in the field of neural interfaces

Telehealth to provide prenatal genetics services: Feasibility and importance revealed during global pandemic

Traditionally, prenatal genetic counseling is performed with face to face counseling in a prenatal diagnosis center. However, alternative forms of genetic counseling are available including use of telephone counseling, group counseling, and use of decision aids. Telegenetics services can benefit patients living in rural areas where there is limited access to providers with genetics expertise. Many women in the United States do not have access to prenatal genetic counseling and receive limited access to standard aneuploidy and carrier screening options because of insurance status even though these options should be offered to all pregnant women. Prenatal telegenetics services can address these inequalities but thus far have not been used broadly due to limited reimbursement and hospital unwillingness to provide the necessary start-up costs to implement prenatal genetics telehealth services

Genetic Determinants of Circulating Estrogen Levels and Evidence of a Causal Effect of Estradiol on Bone Density in Men

Context: Serum estradiol (E2) and estrone (E1) levels exhibit substantial heritability.Objective: To investigate the genetic regulation of serum E2 and E1 in men.Design, Setting, and Participants: Genome-wide association study in 11,097 men of European origin from nine epidemiological cohorts.Main Outcome Measures: Genetic determinants of serum E2 and E1 levels.Results: Variants in/near CYP19A1 demonstrated the strongest evidence for association with E2, resolving to three independent signals. Two additional independent signals were found on the X chromosome; FAMily with sequence similarity 9, member B (FAM9B), rs5934505 (P = 3.4 × 10-8) and Xq27.3, rs5951794 (P = 3.1 × 10-10). E1 signals were found in CYP19A1 (rs2899472, P = 5.5 × 10-23), in Tripartite motif containing 4 (TRIM4; rs17277546, P = 5.8 × 10-14), and CYP11B1/B2 (rs10093796, P = 1.2 × 10-8). E2 signals in CYP19A1 and FAM9B were associated with bone mineral density (BMD). Mendelian randomization analysis suggested a causal effect of serum E2 on BMD in men. A 1 pg/mL genetically increased E2 was associated with a 0.048 standard deviation increase in lumbar spine BMD (P = 2.8 × 10-12). In men and women combined, CYP19A1 alleles associated with higher E2 levels were associated with lower degrees of insulin resistance.Conclusions: Our findings confirm that CYP19A1 is an important genetic regulator of E2 and E1 levels and strengthen the causal importance of E2 for bone health in men. We also report two independent loci on the X-chromosome for E2, and one locus each in TRIM4 and CYP11B1/B2, for E1