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The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D (AD) deletion of 3 million base pairs (Mb). In this report, we evaluated IQ scores in 1,478 subjects with 22q11.2DS. The mean of full scale IQ, verbal IQ, and performance IQ scores in our cohort were 72.41 (standard deviation-SD of 13.72), 75.91(SD of 14.46), and 73.01(SD of 13.71), respectively. To investigate whether IQ scores are associated with deletion size, we examined individuals with the 3 Mb, AD (n = 1,353) and nested 1.5 Mb, AB (n = 74) deletions, since they comprised the largest subgroups. We found that full scale IQ was decreased by 6.25 points (p = .002), verbal IQ was decreased by 8.17 points (p = .0002) and performance IQ was decreased by 4.03 points (p = .028) in subjects with the AD versus AB deletion. Thus, individuals with the smaller, 1.5 Mb AB deletion have modestly higher IQ scores than those with the larger, 3 Mb AD deletion. Overall, the deletion of genes in the AB region largely explains the observed low IQ in the 22q11.2DS population. However, our results also indicate that haploinsufficiency of genes in the LCR22B-D region (BD) exert an additional negative impact on IQ. Furthermore, we did not find evidence of a confounding effect of severe congenital heart disease on IQ scores in our cohort.

Energy resource-consuming industries such as coal, coking, and steel, are crucial for socio-economic development; however, they are also related to high energy consumption and environmental pollution. As carbon peak and carbon neutral goals were porposed, it becomes increasingly urgent to accelerate the revolution of energy production and consumption in China. To this end, we investigate the current status of coal-based hydrogen production technologies and propose a coal–coking–hydrogen–steel industrial chain in this study. The industrial chain is proposed considering the resource endowment, environmental capacity, and industry foundation in China,and it is expected to be green, low-carbon, secure, and highly efficient. Subsequently, we compare and evlatuate five technological paths for this industry chain from the aspects of economy, energy consumption, and carbon emissions, and analyze the potentials and path choices for coupling hydrogen production with direct reduced iron. Moreover, we elaborate the strategic goals and whole layout of the coal–coking–hydrogen–steel industry chain using Shanxi Province as an example. Furthermore, we suggest that a clean and lowcarbon development concept should be established to promote energy transformation in China, an overall development plan should be formulated for the industry chain, and policies, science, technologies, personnels, and market should be further integrated.

Climate change is creating a new era of infectious disease crises, further exacerbated by extreme weather. However, the relationship between extreme weather and infectious disease remain unclear. Here, we provide a new quantitative study on the impact of cold wave on COVID‐19 as an example. We found that during cold waves, extreme cold temperatures coupled with rapid aerosol transport accelerated COVID‐19 outbreaks. It directly increased the number of COVID‐19 cases in Beijing by 28.1% in the winter of year 2022. More urgently, cold temperatures led to a higher risk of death during infectious disease outbreaks, with a 7.07% increase in confirmed deaths and a 16.61% increase in excess mortality. Our findings emphasize the urgent need to promote a synergistic policy for responding to infectious diseases during cold wave disasters in order to minimize the risk of death among the elderly and those with underlying diseases. Plain Language Summary: The sudden drop in temperature and rapid spread of aerosols during cold waves resulted in a higher prevalence of infectious diseases. At the same time, low temperatures resulted in a higher risk of death due to infectious diseases and a variety of other factors during the epidemic. Key Points: The rapid dispersion of aerosols during cold waves hastens the transmission of infectious diseasesLow temperatures contribute to higher risk of death during infectious disease outbreaks [ABSTRACT FROM AUTHOR]

Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base pair (Mb), LCR22A-D deletion, some have nested LCR22A-B or LCR22A-C deletions. Our goal is to identify additional recurrent 22q11.2 deletions associated with 22q11.2DS, serving as recombination hotspots for meiotic chromosomal rearrangements. Here, using data from Affymetrix 6.0 microarrays on 1680 22q11.2DS subjects, we identified what appeared to be a nested proximal 22q11.2 deletion in 38 (2.3%) of them. Using molecular and haplotype analyses from 14 subjects and their parent(s) with available DNA, we found essentially three types of scenarios to explain this observation. In eight subjects, the proximal breakpoints occurred in a small sized 12 kb LCR distal to LCR22A, referred to LCR22A+, resulting in LCR22A+-B or LCR22A+-D deletions. Six of these eight subjects had a nested 22q11.2 deletion that occurred during meiosis in a parent carrying a benign 0.2 Mb duplication of the LCR22A-LCR22A+ region with a breakpoint in LCR22A+. Another six had a typical de novo LCR22A-D deletion on one allele and inherited the LCR22A-A+ duplication from the other parent thus appearing on microarrays to have a nested deletion. LCR22A+ maps to an evolutionary breakpoint between mice and humans and appears to serve as a local hotspot for chromosome rearrangements on 22q11.2.