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Based on 9 years of quasi‐continuous data observed at extremely low‐frequency electromagnetic stations, the long‐term variations of Schumann resonances (SRs) are compared and analyzed. We obtained two major parameters, namely the peak intensity and peak frequencies by Lorentz fitting and focus on their seasonal and interannual variations of the first three modes in 10 stations. Fengning station was taken as an example to show the seasonal variations of the intensity and frequency of each electromagnetic component and each mode of SR, with the intensity reaching the maximum in Northern Hemisphere summer and minimum in winter; while the frequency has an inverse phase. And the amount they change from summer to winter also shows different characteristics. The interannual variation of the 10 stations shows the unified law of change in the magnetic field than in the electric field. Finally, in conjunction with observations from other regions of the globe, the periodic intensity variation and migration of the lighting activities were considered the dominant controlling factors for the SR parameters. And by comparing with the El Niño index and solar X‐radiation flux, the strong links between SR parameters and the 11‐year solar cycle are confirmed, and intensity enhanced under the influence the 2015/2016 super E1 Niño phenomenon. Plain Language Summary: Schumann resonance (SR) is an electromagnetic phenomenon displayed in the low‐frequency band. The Earth's surface and the bottom boundary ionosphere form a cavity that enables specific frequency enhancements. Three major sources of lightning on Earth act as the sources, and due to the extreme low attenuation of electromagnetic waves, their radiated signals can be observed anywhere on Earth. We use ground‐based observations of the natural electromagnetic field to obtain SR information. By analyzing the seasonal and interannual variation of the intensity and frequency in the first three SR modes, we have a preliminary understanding of the SR periodic variation characteristics. We subsequently aim to explain the main reasons for these variations. The intensity changes and the migrations of thunderstorm activity play important roles in the seasonal SR variation. The interannual variation of the frequency and intensity is synchronous with the solar activity, and there is an 11‐year period, while the long‐term variation pattern of the intensity is controlled by global temperature change, especially the super El Niño phenomenon. Key Points: Long‐periodic variation in the Schumann resonance (SR) parameters is examined at 10 extremely low‐frequency electromagnetic stations in ChinaCorrelations are confirmed among the SR parameters, global climate change, and the solar activity cycle [ABSTRACT FROM AUTHOR]

Cosmetics have a long history in China, but their origins remain unclear. Cosmetic industry potentially originated in the Spring and Autumn Period (770–476 bce), but little is known about the early manufacture and use of cosmetics. The Liujiawa site, located on the southern edge of the Loess Plateau in northern China, was the late capital of the ancient Rui state in the early to mid‐Spring and Autumn Period. During the excavation, a sealed small and exquisite container with suspected cosmetic use was unearthed from tomb M49 belonging to a male associated with the aristocratic class. We report in this paper the multidisciplinary application of ATR‐FTIR, XRD, SEM, stable isotope analysis, GC‐MS and GC‐C‐IRMS analysis of the residue inside the container, demonstrating that the residue, which was made of ruminant adipose fat mixed with monohydrocalcite from cave moonmilk, was likely used as cosmetic face cream by the nobleman of the Rui state. This study provides an early example of cosmetic production in China, and, together with the prevalence of similar cosmetic containers during this period, it suggests the rise of an incipient cosmetics industry. Furthermore, the exploitation of moonmilk, a special stalactite in some limestone caves, reflects the link between early Taoist School and cosmetic production encouraged by the aristocratic class. [ABSTRACT FROM AUTHOR]

Auditory neuropathy spectrum disorder ( ANSD) is one of the most common diseases leading to hearing and speech communication barriers in infants and young children. The OTOF gene is the first gene identified for autosomal recessive non-syndromic ANSD, and patients with OTOF mutations have shown marked improvement of auditory functions from the cochlear implantation, but the true involvement of OTOF mutations in Chinese ANSD patients is still unknown which precludes the effective management of this disease. Here, we investigated the contribution of OTOF mutations to congenital ANSD patients in China. In all, 37 infants and young Children with ANSD were screened for all the exons of OTOF gene, of them 34 patients had no neonatal risk factors who were considered as congenital ANSD. The clinical manifestation and audiometric features were also investigated and compared in patients with and without OTOF mutations. In all, 14 of these subjects were shown to carry two or three mutant alleles of OTOF with the high frequency of 41.2% in congenital ANSD patients. In total, 15 novel pathogenic mutations and 10 reported mutations were identified. Our results confirmed that mutations in OTOF gene were a major cause of congenital ANSD in China. Identification of OTOF mutations can facilitate diagnosis, clinical intervention and counseling for congenital ANSD. [ABSTRACT FROM AUTHOR]

The article presents analysis of C5 and C3 gene polymorphism in 220 Chinese patients with paroxysmal nocturnal hemoglobinuria untreated with eculizumab and 259 healthy controls to predict possible efficacy of eculizumab in Chinese patients. Topics include research approved by the Institutional Review Board of the Peking Union Medical College Hospital; control of intravascular hemolysis by eculizumab; and disease such as systemic vasculitis associated with C3 single nucleotide polymorphism.

As a member of the fatty acid desaturase family, fatty acid desaturase 2 (FADS2) gene is a rate-limiting enzyme in the synthesis of unsaturated fatty acids and within/near to the reported QTL regions for milk-production traits. We previously found that FADS2 is differentially expressed during different lactations of Chinese Holstein cows, and participates in lipid metabolic processes by influencing the insulin, PI3K-Akt, MAPK, AMPK, mTOR and PPAR signaling pathways. Therefore, we considered this gene as a candidate gene for milk-production traits. In this study, we identified 12 SNPs in FADS2 by re-sequencing, including two SNPs in the 5' flanking region, one in the seventh exon, five in introns, two in the 3' untranslated region and two in the 3' flanking region. The 29:g.40378819C>T is a missense mutation that causes alanine (GCG) to be replaced with valine (GTG). Through single marker association analysis, we found that all of the 12 SNPs were significantly associated with 305 day milk yield, fat yield, fat percentage, protein yield or protein percentage (p < 0.0493). The results of the subsequent haplotype association analysis also confirmed the associations between the gene and milk-production traits. In summary, this study suggests that there is a significant genetic association between FADS2 and milk-production traits, and that the SNPs with significant genetic effects can provide important molecular information for the development of a genomic selection chip in dairy cattle., (© 2022 Stichting International Foundation for Animal Genetics.)

Our previous GWAS revealed 83 significant SNPs and 20 promising candidate genes associated with milk fatty acid traits in dairy cattle. Out of them, the carboxypeptidase M (CPM) gene contains a genome-wide significant SNP, Hapmap49848-BTA-106779, which is strongly associated with myristic acid (C14:0; P = 0.0064). Herein, we aimed to confirm the genetic effects of CPM on milk fatty acids in Chinese Holstein. Seven SNPs were detected by re-sequencing the sequences of entire exons and 3000 bp of up-/downstream flanking regions of the CPM gene, of which three were in 5' flanking region, one in the 3' UTR and three were in the 3' flanking region. Using the Haploview 4.1, we estimated the LD among the identified SNPs and found two haplotype blocks. With the animal model, we performed the SNP- and haplotype-based association analyses, and observed that these SNPs and haplotype blocks mainly had strong genetic associations with medium-chain saturated fatty acids (caproic acid, C6:0; caprylic acid, C8:0; capric acid, C10:0; and lauric acid, C12:0) (P < 0.0001-0.0257). In addition, using the Genomatix software, we predicted that three SNPs in the 5' flanking region of CPM (g.45079507A>G, g.45080228C>A and g.45080335C>G) changed the transcription factor binding sites for PREF (progesterone receptor biding site), ZBRK1 (transcription factor with eight central zinc fingers and an N-terminal KRAB domain), SOX9 (sex-determining region Y-box 9, dimeric binding sites), SOX6 (sex-determining region Y-box 6) and FOXP1-ES (alternative splicing variant of FOXP1, activated in ESCs). Further, the dual-luciferase reporter assay showed these three SNPs altered the transcriptional activity of CPM gene (P ≤ 0.0006). In summary, using the post-GWAS strategy, we first confirmed the significant genetic effects of CPM with milk fatty acids in dairy cattle, and identified three potential causal mutations., (© 2020 Stichting International Foundation for Animal Genetics.)

Background Myocardial infarction with nonobstructive coronary arteries ( MINOCA ) occurs in ≈10% of all patients with myocardial infarction. Studies on effects of depression on MINOCA outcomes are lacking. Therefore, the aim of this study was to examine the association of depression with clinical outcomes in Chinese patients with MINOCA . Methods and Results We conducted a prospective cohort study of 633 participants with MINOCA and followed up for 3 years. End points were defined as all-cause mortality and cardiovascular events. Diagnosis of depression was ascertained using the psychiatric interview based on the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). During the follow-up period, all-cause death occurred in 93 individuals and cardiovascular events developed in 170 individuals. Kaplan-Meier curves showed a significant association of depression with all-cause mortality (log-rank P<0.001) and cardiovascular events (log-rank P<0.001). Multiple Cox regression identified the new diagnosis of depression as an independent prognostic factor for all-cause mortality as well as cardiovascular events (adjusted hazard ratio, 7.250; 95% CI, 4.735-11.100; P<0.001; and hazard ratio, 3.411; 95% CI , 2.490-4.674; P<0.001, respectively). Conclusions The new diagnosis of depression at the time of myocardial infarction is associated with increased risk of adverse clinical outcomes in patients with MINOCA.

Autosomal dominant types of nonsyndromic hearing loss (ADNSHL) are typically postlingual in onset and progressive. High genetic heterogeneity, late onset age, and possible confounding due to nongenetic factors hinder the timely molecular diagnoses for most patients. In this study, exome sequencing was applied to investigate a large Chinese family segregating ADNSHL in which we initially failed to find strong evidence of linkage to any locus by whole-genome linkage analysis. Two affected family members were selected for sequencing. We identified two novel mutations disrupting known ADNSHL genes and shared by the sequenced samples: c.328C>A in COCH (DFNA9) resulting in a p.Q110K substitution and a deletion c. 2814&#95;2815delAA in MYO6 (DFNA22) causing a frameshift alteration p.R939Tfs*2. The pathogenicity of novel coding variants in ADNSHL genes was carefully evaluated by analysis of co-segregation with phenotype in the pedigree and in light of established genotype-phenotype correlations. The frameshift deletion in MYO6 was confirmed as the causative variant for this pedigree, whereas the missense mutation in COCH had no clinical significance. The results allowed us to retrospectively identify the phenocopy in one patient that contributed to the negative finding in the linkage scan. Our clinical data also supported the emerging genotype-phenotype correlation for DFNA22., (© 2014 John Wiley & Sons Ltd/University College London.)