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Each human genome includes de novo mutations that arose during gametogenesis. While these germline mutations represent a fundamental source of new genetic diversity, they can also create deleterious alleles that impact fitness. Whereas the rate and patterns of point mutations in the human germline are now well understood, far less is known about the frequency and features that impact de novo structural variants (dnSVs). We report a family-based study of germline mutations among 9,599 human genomes from 33 multigenerational CEPH-Utah families and 2,384 families from the Simons Foundation Autism Research Initiative. We find that de novo structural mutations detected by alignment-based, short-read WGS occur at an overall rate of at least 0.160 events per genome in unaffected individuals, and we observe a significantly higher rate (0.206 per genome) in ASD-affected individuals. In both probands and unaffected samples, nearly 73% of de novo structural mutations arose in paternal gametes, and we predict most de novo structural mutations to be caused by mutational mechanisms that do not require sequence homology. After multiple testing correction, we did not observe a statistically significant correlation between parental age and the rate of de novo structural variation in offspring. These results highlight that a spectrum of mutational mechanisms contribute to germline structural mutations and that these mechanisms most likely have markedly different rates and selective pressures than those leading to point mutations.

In this work, nanocomposite graphitic carbon nitride/biochar is successfully prepared by physical mixing method to achieve efficient charge separation and photodegradation of RhB dye under sunlight. The biochar is synthesized by heating biomass in muffle furnace in an inert atmosphere. The graphitic carbon nitride is prepared using melamine as a precursor and heating it in a muffle furnace in air atmosphere. The structural characterizations FTIR and X‐ray diffraction are done to confirm the functional groups and crystallography of prepared samples. The photodegradation of RhB dye by nanocomposite is analyzed using a UV–visible spectrophotometer under solar irradiation. It is found that the RhB dye is completely reduced by the nanocomposite in less than 6 min in the presence of sunlight. The kinetic study confirms the photodegradation of RhB dye is first order reaction and rate constant is found to be 0.31 min−1. [ABSTRACT FROM AUTHOR]

The study has prepared highly conducting polymer electrolyte films using solution cast technique with poly(vinylidene fluoride‐co‐hexafluoropropylene) PVDF‐HFP, mixture of ethylene carbonate (EC), and propylene carbonate (PC) as plasticizer and latex of Calotropis gigantea (CGL) as an ionic source. In this study, four films are prepared using PVDF‐HFP:CGL in ratio 1:1 with the increasing concentration of EC+PC as 1, 2, 3, and 4 M named as 1:1:1, 1:1:2, 1:1:3, 1:1:4. The prepared polymer electrolyte is examined by polarized optical microscopy (POM), elemental dispersive X‐ray technique (EDX), and complex impedance spectroscopy. EDX and POM are studied for the surface morphology of all prepared samples and to investigate the porous nature of films. The enhancement in ionic conductivity occurs due to CGL and increasing amount of EC‐PC. Conductivity of highest composition (1:1:4) polymer electrolyte film is found to be ≈10−3 S cm−1. The optimized polymer electrolyte film is considered as a promising candidate for application in supercapacitors. [ABSTRACT FROM AUTHOR]

MXenes for supercapacitor (SC) electrodes is a very promising area of research. Supercapacitors are still behind batteries when to be used as primary energy source due to their low energy densities. Hence, additional research is vital to explore materials like MXenes for SC electrodes. The electronic properties of molybdenum nitride Mo2N are studied and its quantum capacitance (QC) is calculated to explore its potential for SC electrodes. The MXene is found to be metallic in nature. The QC values for Mo2N MXene are extremely high around Fermi level. Maximum value of 746.69 µF cm−2 is achieved which is way higher than that of graphene. The value remains high for the negative bias voltage as well. [ABSTRACT FROM AUTHOR]

The aim of this study was to describe rates of telemedicine use 18 months after the start of the coronavirus disease 2019 pandemic and to assess the institutional barriers to its implementation for type 1 diabetes care across centers of the T1D Exchange Quality Improvement Collaborative. Observational electronic health record data capturing telemedicine rates from 15 U.S. centers between September 2020 and September 2021 and a survey of 33 centers capturing telemedicine rates and key components of telemedicine were analyzed. A capacity score was developed and summed to a total capacity score and compared with overall telemedicine rates across centers. Telemedicine visits decreased by 17.4% from September 2020 to September 2021. Generally, it was observed that the lower the average telemedicine capacity score, the lower the rate of telemedicine visits. Despite a decline in the utilization of telemedicine 18 months after the start of the pandemic, visit rates were still 20% higher than in the pre-pandemic period. However, there is a need to improve structural components to ensure telemedicine capacity and robust telemedicine utilization. [ABSTRACT FROM AUTHOR]

The article discusses research which determined the longitudinal associations of mental health comorbidities with hemoglobin A1C among adolescents and young adults with type 1 diabetes. The study examined the of diabetes distress, depressive symptoms, and suicide risk with higher A1C, with consideration of sociodemographic and clinical characteristics including age, sex, race/ethnicity, health insurance status, body mass index, insulin pump use, and continuous glucose monitoring use.

A blend polymer based on the latex of the South-Asian giant milkweed Calotropis gigantea (CGL) combined with poly (vinylidene fluoride)-co-hexafluoropropylene (PVDF-HFP) at a mass ratio of 1:1 without the addition of doping salts was synthesized via solution casting to prepare an ionic conductive film. The morphology, crystalline state, vibrational and thermal properties of the film were investigated by Scanning electron microscopy, X-ray diffraction, Fourier Transform infrared spectroscopy (FTIR), Thermal gravimetric analysis (TGA) and Differential scanning calorimetry (DSC). The ionic conductivity and transport properties were investigated by using electrochemical impedance spectroscopy (EIS) Technique. Due the highest ionic conductivity at room temperature (2.7 x 10−2 S/cm), all-solid-state electrolyte was assembled using the prepared polymer film and a comparative study was conducted with respect to 1M H2SO4 liquid electrolyte, regarding the specific capacitance and the electrical properties. The results demonstrate that the fabricated all-solid-state supercapacitor using PVDF-HFP/CGL blend polymer film as electrolyte matches the performance of the liquid electrolyte. [ABSTRACT FROM AUTHOR]