The triggering process of an X-class solar flare on a small quadrupolar active region

The occurrence of X-class solar flares and their potential impact on the space weather often receive great attention than other flares. But predicting when and where an X-class flare will occur is still a challenge. With the multi-wavelength observation from the Solar Dynamics Observatory and FengYun- 3E satellite, we investigate the triggering of a GOES X1.0 flare occurring in the NOAA active region (AR) 12887. Our results show that this unique X-class flare is bred in a relatively small but complex quadrupolar AR. Before the X-class flare, two filaments (F1 and F2) exist below a null-point topology of the quadrupolar AR. Magnetic field extrapolation and observation reveal that F1 and F2 correspond to two magnetic flux ropes with the same chirality and their adjacent feet rooted at nonconjugated opposite polarities, respectively. Interestingly, these two polarities collide rapidly, accompanied by photospheric magnetic flux emergence, cancellation and shear motion in the AR center. Above this site, F1 and F2 subsequently intersect and merge to a longer filament (F3) via a tether-cutting-like reconnection process. As a result, the F3 rises and erupts, involving the large-scale arcades overlying filament and the quadrupolar magnetic field above the AR, and eventually leads to the eruption of the X-class flare with a quasi-X-shaped flare ribbon and a coronal mass ejection. It suggests that the rapid collision of nonconjugated opposite polarities provides a key condition for the triggering of this X-class flare, and also provides a featured case for flare trigger mechanism and space weather forecasting.Comment: 24 pages, 7 figures, accepted for publication in Ap

Prenatal Diagnosis of Recurrent Distal 1q21.1 Duplication in Three Fetuses With Ultrasound Anomalies

Background: The phenotype of duplication of 1q21.1 region is variable, ranging from macrocephaly, autism spectrum disorder, congenital anomalies, to a normal phenotype. Few cases have been reported in the literature regarding prenatal diagnosis of 1q21.1 duplication syndrome. The current study presents prenatal diagnosis of 1q21.1 duplication syndrome in three fetuses with ultrasound anomalies.Case presentation: Three fetuses from three unrelated families were included in the study. The prenatal routine ultrasound examination showed nasal bone loss in Fetus 1 and Fetus 3, as well as duodenal atresia in Fetus 2. Chromosomal microarray analysis was performed to provide genetic analysis of amniotic fluid and parental blood samples. The CMA results revealed two de novo duplications of 1.34 and 2.69 Mb at distal 1q21.1 region in two fetuses with absent nasal bone, as well as a maternal inherited 1.35-Mb duplication at distal 1q21.1 in one fetus with duodenal atresia.Conclusions: The phenotype of 1q21.1 duplication syndrome in prenatal diagnosis is variable. The fetuses with nasal bone loss or duodenal atresia may be related to 1q21.1 duplication and chromosomal microarray analysis should be performed

Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study.

Results from observational studies examining dyslipidemia as a risk factor for diabetic retinopathy (DR) have been inconsistent. We evaluated the causal relationship between plasma lipids and DR using a Mendelian randomization approach. We pooled genome-wide association studies summary statistics from 18 studies for two DR phenotypes: any DR (N = 2,969 case and 4,096 control subjects) and severe DR (N = 1,277 case and 3,980 control subjects). Previously identified lipid-associated single nucleotide polymorphisms served as instrumental variables. Meta-analysis to combine the Mendelian randomization estimates from different cohorts was conducted. There was no statistically significant change in odds ratios of having any DR or severe DR for any of the lipid fractions in the primary analysis that used single nucleotide polymorphisms that did not have a pleiotropic effect on another lipid fraction. Similarly, there was no significant association in the Caucasian and Chinese subgroup analyses. This study did not show evidence of a causal role of the four lipid fractions on DR. However, the study had limited power to detect odds ratios less than 1.23 per SD in genetically induced increase in plasma lipid levels, thus we cannot exclude that causal relationships with more modest effect sizes exist

The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

Nononcogenic somatic mutations are thought to be uncommon and inconsequential. To test this, we analyzed 43,693 National Heart, Lung and Blood Institute Trans-Omics for Precision Medicine blood whole genomes from 37 cohorts and identified 7131 non-missense somatic mutations that are recurrently mutated in at least 50 individuals. These recurrent non-missense somatic mutations (RNMSMs) are not clearly explained by other clonal phenomena such as clonal hematopoiesis. RNMSM prevalence increased with age, with an average 50-year-old having 27 RNMSMs. Inherited germline variation associated with RNMSM acquisition. These variants were found in genes involved in adaptive immune function, proinflammatory cytokine production, and lymphoid lineage commitment. In addition, the presence of eight specific RNMSMs associated with blood cell traits at effect sizes comparable to Mendelian genetic mutations. Overall, we found that somatic mutations in blood are an unexpectedly common phenomenon with ancestry-specific determinants and human health consequences

Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels

Large-scale meta-analyses of genome-wide association studies (GWAS) have identified >175 loci associated with fasting cholesterol levels, including total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG). With differences in linkage disequilibrium (LD) structure and allele frequencies between ancestry groups, studies in additional large samples may detect new associations. We conducted staged GWAS meta-analyses in up to 69,414 East Asian individuals from 24 studies with participants from Japan, the Philippines, Korea, China, Singapore, and Taiwan. These meta-analyses identified (P < 5 × 10-8) three novel loci associated with HDL-C near CD163-APOBEC1 (P = 7.4 × 10-9), NCOA2 (P = 1.6 × 10-8), and NID2-PTGDR (P = 4.2 × 10-8), and one novel locus associated with TG near WDR11-FGFR2 (P = 2.7 × 10-10). Conditional analyses identified a second signal near CD163-APOBEC1. We then combined results from the East Asian meta-analysis with association results from up to 187,365 European individuals from the Global Lipids Genetics Consortium in a trans-ancestry meta-analysis. This analysis identified (log10Bayes Factor ≥6.1) eight additional novel lipid loci. Among the twelve total loci identified, the index variants at eight loci have demonstrated at least nominal significance with other metabolic traits in prior studies, and two loci exhibited coincident eQTLs (P < 1 × 10-5) in subcutaneous adipose tissue for BPTF and PDGFC. Taken together, these analyses identified multiple novel lipid loci, providing new potential therapeutic targets

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

One-Pot Green Synthesis of Ag-Decorated SnO2 Microsphere: an Efficient and Reusable Catalyst for Reduction of 4-Nitrophenol

Abstract In this paper, hierarchical Ag-decorated SnO2 microspheres were synthesized by a facile one-pot hydrothermal method. The resulting composites were characterized by XRD, SEM, TEM, XPS, BET, and FTIR analysis. The catalytic performances of the samples were evaluated with the reduction of 4-nitrophenol to 4-aminophenol by potassium borohydride (KBH4) as a model reaction. Time-dependent experiments indicated that the hierarchical microspheres assembled from SnO2 and Ag nanoparticles can be formed when the react time is less than 10 h. With the increase of hydrothermal time, SnO2 nanoparticles will self-assemble into SnO2 nanosheets and Ag nanoparticles decorated SnO2 nanosheets were obtained. When evaluated as catalyst, the obtained Ag-decorated SnO2 microsphere prepared for 36 h exhibited excellent catalytic performance with normalized rate constant (κ nor) of 6.20 min−1g−1L, which is much better than that of some previous reported catalysts. Moreover, this Ag-decorated SnO2 microsphere demonstrates good reusability after the first five cycles. In addition, we speculate the formation mechanism of the hierarchical Ag-decorated SnO2 microsphere and discussed the possible origin of the excellent catalytic activity

Additional file 1: Figure S1. of One-Pot Green Synthesis of Ag-Decorated SnO2 Microsphere: an Efficient and Reusable Catalyst for Reduction of 4-Nitrophenol

XRD patterns of the SnO2/Ag prepared at different temperatures and different contents of mole ratio of Ag. Figure S2. Time-dependent UV–Vis spectra for first to fifth cycles for the sample with 5 h hydrothermal time. Figure S3. Time-dependent UV–Vis spectra for first to fifth cycles for the sample with 10-h hydrothermal time. Figure S4. Time-dependent UV–Vis spectra for first to fifth cycles for the sample with 24-h hydrothermal time. Figure S5. Time-dependent UV–Vis spectra for first to fifth cycles for the sample with 36-h hydrothermal time. Figure S6. Time-dependent UV–Vis spectra for sixth to tenth cycles for the sample with 36-h hydrothermal time. Figure S7. FTIR spectrum of SnO2/Ag microsphere after different catalytic cycles. Figure S8. Time-dependent UV–Vis spectra for pure SnO2 and Ag NPs. Figure S9. Plot of ln(C t /C 0) versus reaction time of the pure SnO2 and Ag. (DOCX 2159 kb

Molecular Subtyping and Prognostic Assessment Based on Tumor Mutation Burden in Patients with Lung Adenocarcinomas

The distinct molecular subtypes of lung cancer are defined by monogenic biomarkers, such as EGFR, KRAS, and ALK rearrangement. Tumor mutation burden (TMB) is a potential biomarker for response to immunotherapy, which is one of the measures for genomic instability. The molecular subtyping based on TMB has not been well characterized in lung adenocarcinomas in the Chinese population. Here we performed molecular subtyping based on TMB with the published whole exome sequencing data of 101 lung adenocarcinomas and compared the different features of the classified subtypes, including clinical features, somatic driver genes, and mutational signatures. We found that patients with lower TMB have a longer disease-free survival, and higher TMB is associated with smoking and aging. Analysis of somatic driver genes and mutational signatures demonstrates a significant association between somatic RYR2 mutations and the subtype with higher TMB. Molecular subtyping based on TMB is a potential prognostic marker for lung adenocarcinoma. Signature 4 and the mutation of RYR2 are highlighted in the TMB-High group. The mutation of RYR2 is a significant biomarker associated with high TMB in lung adenocarcinoma