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Living in the heart of Eurasia, the Kyrgyz ethnic minority have a complex human evolutionary and migration history. However, the genetic architecture of the Kyrgyz population has not been fully explored. We studied 526 Kyrgyz samples from Kizilsu Kirghiz Autonomous Prefecture in Xinjiang using the Investigator® DIPplex kit. All loci followed Hardy-Weinberg equilibrium (HWE). The combined power of discrimination (CPD) and combined power of paternity exclusion (CPE) was 0.9999999999988 and 0.9936, respectively. Compared with 90 reference populations, five InDels (HLD99, HLD81, HLD64, HLD118, and HLD111) have the potential to distinguish the Kyrgyz/Uyghur/Kazak population from other East Asian populations. Our results suggested a close genetic relationship between the Kyrgyz population and the Uyghur/Kazak populations, followed by South Asian populations. This was in accordance with the inland migration hypothesis or modern human migration influenced by warfare. Overall, this system can be used as a powerful tool in forensic individual identification and as a complementary tool in paternity cases and biogeographic ancestry analyses.

Objective: Through metabolomics method, the objective of the paper is to differentially screen serum metabolites of GDM patients and healthy pregnant women, to explore potential biomarkers of GDM and analyze related pathways, and to explain the potential mechanism and biological significance of GDM. Methods: The serum samples from 30 GDM patients and 30 healthy pregnant women were selected to conduct non-targeted metabolomics study by liquid chromatography-mass spectrometry. The differential metabolites between the two groups were searched and the metabolic pathway was analyzed by KEGG database. Results: Multivariate statistical analysis found that serum metabolism in GDM patients was different significantly from healthy pregnant women, 36 differential metabolites and corresponding metabolic pathways were identified in serum, which involved several metabolic ways like, fatty acid metabolism, butyric acid metabolism, bile secretion, and amino acid metabolism. Conclusion: The discovery of these biomarkers provided a new theoretical basis and experimental basis for further study of the early diagnosis and pathogenesis of GDM. At the same time, LC-MS-based serum metabolomics methods also showed great application values in disease diagnosis and mechanism research. Keywords: Gestational diabetes mellitus, Metabolomics, Serum, Liquid chromatography-mass spectrometry, Metabolic pathway analysis

BACKGROUND: Bilateral renal agenesis (BRA) is a lethal con genital anomaly caused by the failure of normal development of both kidneys early in embryonic development. Oligohydramnios on fetal ultrasonography reveals BRA. Although the exact causes are not clear, BRA is associated with mutations in many renal development genes. However, molecular diagnostics do not pick up many clinical patients. Nephronectin (NPNT) may be a candidate protein for widening diagnosis. It is essential in kidney development, and knockout of Npnt in mice frequently leads to kidney agenesis or hypoplasia. METHODS: A consanguineous Han family experienced three cases of induced abortion in the second trimester of pregnancy, due to suspected BRA. Whole-exome sequencing (WES)–based homozygosity mapping detected underlying genetic factors, and a knock-in mouse model confirmed the renal agenesis phenotype. RESULTS: WES and evaluation of homozygous regions in II:3 and II:4 revealed a pathologic homozygous frameshift variant in NPNT (NM_001184690:exon8:c.777dup/p.Lys260*), which leads to a premature stop in the next codon. The truncated NPNT protein exhibited decreased expression, as confirmed in vivo by the overexpression of WT and mutated NPNT. A knock-in mouse model homozygous for the detected Npnt mutation replicated the BRA phenotype. CONCLUSIONS: A biallelic loss-of-function NPNT mutation causing an autosomal recessive form of BRA in humans was confirmed by the corresponding phenotype of knock-in mice. Our results identify a novel genetic cause of BRA, revealing a new target for genetic diagnosis, prenatal diagnosis, and preimplantation diagnosis for families with BRA.

Background: Monosomies and trisomies, as the most common aneuploid abnormalities, are the leading causes of miscarriages and fetal defects in humans. Although there is evidence suggested that aneuploid may have some common aspects, their common mechanism still remains unclear. This studies objective was to explore the common mechanism of monosomies and trisomies, with a purpose to identify some critical biomarkers and pathway so as to early diagnosis and effective therapy.Methods: We obtained the mRNA expression profile of GSE114559 including 101 samples data from GEO database. These data include normal, every monosomic, and trisomic transcriptome. We conducted Limma analysis by using the adj. p1 criteria to identify all monosomy-related, trisomy-related differentially expressed genes (DEGs), and also to found their overlapping DEGs through Venn diagram. We then performed Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes pathway (KEGG) enrichment analyses, protein-protein interaction(PPI) network analysis to find the functional, pathways and hub genes in these DEGs. We carried out weighted correlation network analysis (WGCNA) to further detect the candidate genes and pathways related to all DEGs and their overlappling DEGs. Finally, we further used qPCR to certify pathological change of specific genes. Results: We identified all monosomy-related, trisomy-related DEGs, and their overlapping DEGs which were enriched by spliceosome, thyroid hormone, infection-related genes and signalling pathways. We also found that epigenetic related pathways were significantly enriched in the DEGs of monosomies by GO, KEGG. We explode the hub gene and module in the DEGs of monosomies and the overlapping DEGs by PPI. Then, we found that spliceosome, thyroid hormone, infection-related genes and signalling pathways were enriched in all DEGs group and the overlapping DEGs group by weighted correlation network analysis (WGCNA). Finally, we certified some hub gene in the trisomy 21, 47, XYY samples from clinical patients by qPCR which were consistent with results of PPI analysis.Conclusion: Our study indicates the potential common mechanism underlining spliceosome, thyroid hormone and infection-related signalling pathways for both monosomies and trisomies, and the mechanism underling epigenetic for monosomies.

Urban green infrastructure (UGI) can be used as a sustainable stormwater management approach. UGI can bring numerous ecological benefits to cities, including increased urban resilience, increased availability of water resources, and optimization of habitats. This paper used empirical research methods to describe an Internet of things (IoT)-based UGI monitoring and control system for stormwater management (MCSSWM). Using a Xuzhou-based practical project in China as a case study, we introduce the construction process, method, and monitoring results of the system. The results showed that the MCSSWM could be beneficial for UGI ecological performance evaluation and management.

Genxia Li,1,* Na Yang,2,* Mingkun Xie,1 Yajuan Xu,1 Ning Han,1 Qi Chen,3 Hezhou Li,4 Yueli Wu,5 Chunhua Cheng,1 Yuhong Wang,1 Man Zhou,6 Bo Xia,6 Shuhua Guo,1 Shihong Cui11Department of Obstetrics and Gynecology, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, 2Department of Obstetrics and Gynecology, The First People’s Hospital in Guangzhou, Guangzhou, 3Department of Pediatric Surgery, 4Department of Ultrasound, 5Department of Genetics Laboratory, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China; 6Department of Genetics and Biochemistry, Clemson University, Clemson, SC, USA*These authors contributed equally to this workSynopsis: The establishment of a multidisciplinary consultation system is necessary for the diagnosis of complicated fetal anomalies.Purpose: We aimed to investigate the incidences of different types of fetal anomalies and the influence of multidisciplinary consultation on fetal prognosis.Patients and methods: Multidisciplinary specialists include obstetricians, pediatricians, pediatric surgeons, and experts of ultrasound department and genetic counseling. Consultation was done if the fetal ultrasound examinations showed abnormality. Follow-up, assistance, and guidance for the fetus were achieved by phone calls.Results: Ultrasound screening showed that the incidences of central nervous system anomaly and genitourinary anomaly were 25.80% (275/1,066) and 22.05% (235/1,066), respectively. The detection rates of fetal anomalies were 5.07% (54/1,066), 36.12% (385/1,066), and 58.82% (627/1,066) in pregnant women with gestational age of 28 weeks, respectively. In addition, the fetal cerebral ventriculomegaly accounted for 40.73% of central nervous system malformation, while 71.43% cases with fetal cerebral ventriculomegaly were alleviated during the follow-up period. The proportion of hydronephrosis in genitourinary anomalies was 50.64%, and the remission rate of hydronephrosis was 67.23% during the follow-up period.Conclusion: The establishment of a multidisciplinary consultation system is necessary for the diagnosis of complicated fetal anomalies. The central nervous system anomaly and genitourinary anomaly are the most common fetal anomalies. In addition, the remission rates of cerebral ventriculomegaly and fetal hydronephrosis are high during the follow-up period. Keywords: multidisciplinary consultation, fetal anomalies, pregnancy outcome

Genome-wide association studies of patients have linked the Rasgrf1 gene with myopia. The aim of this study was to investigate the messenger RNA (mRNA) expression of Rasgrf1 in the eyes of guinea pigs with induced myopia.The myopia was induced by form deprivation in 24 guinea pigs, while additional 12 animals served as a control. Biometric measurements were used to monitor myopic progression. The animals were sacrificed at two, three and four weeks after beginning of the monocular form deprivation, followed by dissection of the retina, and the sclera, as well as mRNA isolation from both layers. A quantitative reverse transcriptase-polymerase chain reaction was performed to detect the expression of Rasgrf1.The spherical equivalent in eyes subjected to form deprivation differed from the fellow eyes, with measurements of -3.80 ± 0.08 D, -3.96 ± 0.94 D and -4.00 ± 0.94 D at the two-, three- and four-week times, respectively, significantly more myopia than the inter-ocular difference in the control group (p 0.05). The form-deprived eyes also had a longer axial length compared with the fellow eye: 1.37 ± 0.76 mm, 1.32 ± 0.65 mm and 0.92 ± 0.80 mm at two, three and four weeks, respectively, significantly different from the control group (p 0.05). In contrast, there was no difference in the corneal curvature, anterior chamber depth or lens thickness between the two eyes at any time (p 0.05). The increase of Rasgrf1 expression was observed in the sclera, with a fold change of 6.596, 4.379 after three weeks and 6.788, 5.711 after four weeks of treatment, compared with the fellow eyes and the control group, respectively (p 0.05).Rasgrf1 up-regulation was found in the sclera of myopic eyes; however, further investigation is needed to determine whether Rasgrf1 plays a causative role or is a consequence of myopia-induced scleral remodelling.