Search for an Invisibly-Decaying Higgs Boson at LEP

A search for a Higgs boson produced in e^+e^- collisions in association with a Z boson and decaying into invisible particles is performed. Data collected at LEP with the L3 detector at centre-of-mass energies from 189 GeV to 209 GeV are used, corresponding to an integrated luminosity of 0.63/fb. Events with hadrons, electrons or muons with visible masses compatible with a Z boson and missing energy and momentum are selected. They are consistent with the Standard Model expectations. A lower limit of 112.3 GeV is set at 95% confidence level on the mass of the invisibly-decaying Higgs boson in the hypothesis that its production cross section equals that of the Standard Model Higgs boson. Relaxing this hypothesis, upper limits on the production cross section are derived

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (vol 6, 92, 2021)

Genetics of disease, diagnosis and treatmen

Identification of common genetic risk variants for autism spectrum disorder

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.Peer reviewe

Track D Social Science, Human Rights and Political Science

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/138414/1/jia218442.pd

Risk profiles and one-year outcomes of patients with newly diagnosed atrial fibrillation in India: Insights from the GARFIELD-AF Registry.

BACKGROUND: The Global Anticoagulant Registry in the FIELD-Atrial Fibrillation (GARFIELD-AF) is an ongoing prospective noninterventional registry, which is providing important information on the baseline characteristics, treatment patterns, and 1-year outcomes in patients with newly diagnosed non-valvular atrial fibrillation (NVAF). This report describes data from Indian patients recruited in this registry. METHODS AND RESULTS: A total of 52,014 patients with newly diagnosed AF were enrolled globally; of these, 1388 patients were recruited from 26 sites within India (2012-2016). In India, the mean age was 65.8 years at diagnosis of NVAF. Hypertension was the most prevalent risk factor for AF, present in 68.5% of patients from India and in 76.3% of patients globally (P < 0.001). Diabetes and coronary artery disease (CAD) were prevalent in 36.2% and 28.1% of patients as compared with global prevalence of 22.2% and 21.6%, respectively (P < 0.001 for both). Antiplatelet therapy was the most common antithrombotic treatment in India. With increasing stroke risk, however, patients were more likely to receive oral anticoagulant therapy [mainly vitamin K antagonist (VKA)], but average international normalized ratio (INR) was lower among Indian patients [median INR value 1.6 (interquartile range {IQR}: 1.3-2.3) versus 2.3 (IQR 1.8-2.8) (P < 0.001)]. Compared with other countries, patients from India had markedly higher rates of all-cause mortality [7.68 per 100 person-years (95% confidence interval 6.32-9.35) vs 4.34 (4.16-4.53), P < 0.0001], while rates of stroke/systemic embolism and major bleeding were lower after 1 year of follow-up. CONCLUSION: Compared to previously published registries from India, the GARFIELD-AF registry describes clinical profiles and outcomes in Indian patients with AF of a different etiology. The registry data show that compared to the rest of the world, Indian AF patients are younger in age and have more diabetes and CAD. Patients with a higher stroke risk are more likely to receive anticoagulation therapy with VKA but are underdosed compared with the global average in the GARFIELD-AF. CLINICAL TRIAL REGISTRATION-URL: http://www.clinicaltrials.gov. Unique identifier: NCT01090362

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Purpose: Neurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated with a mild phenotype without any externally visible tumors. Methods: A total of 135 individuals from 103 unrelated families, all carrying the constitutional NF1 p.Met992del pathogenic variant and clinically assessed using the same standardized phenotypic checklist form, were included in this study. Results: None of the individuals had externally visible plexiform or histopathologically confirmed cutaneous or subcutaneous neurofibromas. We did not identify any complications, such as symptomatic optic pathway gliomas (OPGs) or symptomatic spinal neurofibromas; however, 4.8% of individuals had nonoptic brain tumors, mostly low-grade and asymptomatic, and 38.8% had cognitive impairment/learning disabilities. In an individual with the NF1 constitutional c.2970_2972del and three astrocytomas, we provided proof that all were NF1-associated tumors given loss of heterozygosity at three intragenic NF1 microsatellite markers and c.2970_297

Active layer and permafrost thermal regime in a patterned ground soil in Maritime Antarctica, and relationship with climate variability models

Permafrost and active layer studies are important to understand and predict regional climate changes. The objectives of this work were: i) to characterize the soil thermal regime (active layer thickness and permafrost formation) and its interannual variability and ii) to evaluate the influence of different climate variability modes to the observed soil thermal regime in a patterned ground soil in Maritime Antarctica. The study was carried out at Keller Peninsula, King George Island, Maritime Antarctica. Six soil temperatures probes were installed at different depths (10, 30 and 80 cm) in the polygon center (Tc) and border (Tb) of a patterned ground soil. We applied cross-correlation analysis and standardized series were related to the Antarctic Oscillation Index (AAO). The estimated active layer thickness was approximately 0.75 cm in the polygon border and 0.64 cm in the center, indicating the presence of permafrost (within 80 cm). Results indicate that summer and winter temperatures are becoming colder and warmer, respectively. Considering similar active layer thickness, the polygon border presented greater thawing days, resulting in greater vulnerability to warming, cooling faster than the center, due to its lower volumetric heat capacity (Cs). Cross-correlation analysis indicated statistically significant delay of 1 day (at 10 cm depth) in the polygon center, and 5 days (at 80 cm depth) for the thermal response between atmosphere and soil. Air temperature showed a delay of 5 months with the climate variability models. The influence of southern winds from high latitudes, in the south facing slopes, favored freeze in the upper soil layers, and also contributed to keep permafrost closer to the surface. The observed cooling trend is linked to the regional climate variability modes influenced by atmospheric circulation, although longer monitoring period is required to reach a more precise scenario