Knowledge Atlas on the Relationship between Water Management and Constructed Wetlands—A Bibliometric Analysis Based on CiteSpace

Water management is a crucial resource conservation challenge that mankind faces, and encouraging the creation of manmade wetlands with the goal of achieving long-term water management is the key to long-term urban development. To summarise and analyse the status of the research on the relationship between water management and constructed wetlands, this paper makes use of the advantages of the bibliometric visualization of CiteSpace to generate country/region maps and author-collaboration maps, and to analyse research hotspots and research dynamics by using keywords and literature co-citations based on 1248 pieces of related literature in the core collection in the Web of Science (WoS) database. The existing research shows that the research content and methods in the field of constructed-wetland and water-management research are constantly being enriched and deepened, including the research methods frequently used in constructed wetlands in water management and in the research content under concern, the functions and roles of constructed wetlands, the relevant measurement indicators of the purification impact of constructed wetlands on water bodies, and the types of water bodies treated by constructed wetlands in water management. We summarise the impact pathways of constructed wetlands on water management, as well as the impact factors of constructed wetlands under water-management objectives, by analysing the future concerns in the research field to provide references for research

Knowledge Atlas on the Relationship between Water Management and Constructed Wetlands—A Bibliometric Analysis Based on CiteSpace

Water management is a crucial resource conservation challenge that mankind faces, and encouraging the creation of manmade wetlands with the goal of achieving long-term water management is the key to long-term urban development. To summarise and analyse the status of the research on the relationship between water management and constructed wetlands, this paper makes use of the advantages of the bibliometric visualization of CiteSpace to generate country/region maps and author-collaboration maps, and to analyse research hotspots and research dynamics by using keywords and literature co-citations based on 1248 pieces of related literature in the core collection in the Web of Science (WoS) database. The existing research shows that the research content and methods in the field of constructed-wetland and water-management research are constantly being enriched and deepened, including the research methods frequently used in constructed wetlands in water management and in the research content under concern, the functions and roles of constructed wetlands, the relevant measurement indicators of the purification impact of constructed wetlands on water bodies, and the types of water bodies treated by constructed wetlands in water management. We summarise the impact pathways of constructed wetlands on water management, as well as the impact factors of constructed wetlands under water-management objectives, by analysing the future concerns in the research field to provide references for research

Whole‐exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy

Abstract Background Skeletal ciliopathies are a group of clinically and genetically heterogeneous disorders with the spectrum of severity spanning from relatively mild to prenatally lethal. The aim of our study was to identify pathogenic mutations in a Chinese family with two siblings presenting a Short‐rib polydactyly syndrome (SRPS)‐like phenotype. Method Karyotyping and NGS‐based CNVseq were performed. Obtaining the negative results in karyotyping and CNVseq, whole‐exome sequencing (WES) using genomic DNA (gDNA) extracted from the umbilical cord blood of the first fetus was carried out, followed by bioinformation analysis. The candidate pathogenic variants were confirmed by Sanger sequencing in the family. Results No chromosomal abnormalities and pathogenic copy number variations (CNVs) were detected in the affected fetus with SRPS‐like phenotype. WES analysis identified two novel compound heterozygous variants in DYNC2LI1, c.358G>T (p.Pro120Ser; NM_001193464), and c.928A>T (p.Lys310Ter; NM_ 001193464). Bioinformatics analysis suggested that c.358G>T (p.Pro120Ser) was likely pathogenic and c.928A>T (p.Lys310Ter) was pathogenic. Sanger sequencing of the two variants in family reveal that c.358G>T was from paternal origin and c.928A>T was from maternal origin, and the second affected fetus had the same compound heterozygous variants in DYNC2LI1. Definitive diagnosis of short‐rib thoracic dysplasia 15 with polydactyly (SRTD15) was made in the family. Conclusion Our results expand the mutational spectrum of DYNC2LI1 in severe skeletal ciliopathies. WES facilitates the accurate prenatal diagnosis of fetal skeletal ciliopathy, and provides helpful information for genetic counseling

Requirement for etoposide in the treatment of pregnancy related hemophagocytic lymphohistiocytosis: a multicenter retrospective study

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a rare severe clinical syndrome. HLH manifesting during pregnancy has been paid much attention in recent years. Despite the specificity of pregnancy-related HLH, there has not been any consensus regarding its treatment. According to a previous study, corticosteroid/IVIG is the mainstream therapy; however, the efficacy is controversial. Etoposide is an important agent in the HLH-94 regimen; nevertheless, its use is limited because of possible toxicity to the fetus. Methods: In this study, we summarized 13 cases from 4 medical institutions from April 2011 to April 2018. Treatment regimens and outcomes were observed. Results The median age was 26 (20–36) years old. The median gestational age was 28 (10–35) weeks. In these 13 patients, 10 were treated with methylprednisolone/IVIG and was effective in only two patients. In 6 patients who used etoposide during their treatment, all achieved remission. The median time from onset of disease to use of etoposide was 36 (17–131) days. Five of these 6 patients were treated with corticosteroids with/without IVIG before etoposide. One patient with pulmonary tuberculosis and one with lymphoma were treated according to etiology and achieved long survival. Conclusion For treatment of pregnancy-related HLH, particularly for patients who do not respond to corticosteroids/IVIG therapy, etoposide should be used bravely. Nevertheless, suitable dosages and toxic and side-effects require further clinical observation

Genome-wide association study on coordination and agility in 461 Chinese Han males

Purpose: There is growing evidence that genetic factors can influence human athletic performance. In many sports performances, excellent coordination and agility are the keys to mastery. However, few studies have been devoted to identifying genetic influences on athletic performance. Methods: We generated a derived measure of coordination and agility from the data of hexagonal jumps and T-runs and conducted genome-wide association and meta-analysis studies focused on coordination and agility. Results: The phenotypic correlation and genetic covariance analysis indicated that hexagonal jumps and T-runs were possibly influenced by the same set of genetic factors (R = 0.27, genetic covariance = 0.59). Meta-analysis identified rs117047321 genome-wide significant association (N = 143, P < 10E-5) with coordination and agility, and this association was replicated in the replication group (N = 318, P < 0.05). The CG genotype samples of this single nucleotide polymorphism (SNP) required a longer average movement time than the CC genotype samples, and the CG genotype only exists in Asia, which may belong to the East Asia-specific variation. This SNP is located on MYO5B, which is highly expressed in tissues such as the brain, heart, and muscle, suggesting that this locus might be a genetic factor related to human energy metabolism. Conclusion: Our study indicated that genetic factors can affect the athletic performance of coordination and agility. These findings may provide valuable insights for using genetic factors to evaluate sports characteristics

Endothelium-specific SIRT7 targeting ameliorates pulmonary hypertension through Krüpple-like factor 4 deacetylation.

AIMS: Pulmonary hypertension (PH) is a pulmonary vascular disease characterized by a high mortality rate. Pulmonary arterial endothelium cells (PAECs) serve as a primary sensor of various environmental cues, such as shear stress and hypoxia, but PAEC dysfunction may trigger vascular remodelling during the onset of PH. This study aimed to illustrate the role of Sirtuin 7 (SIRT7) in endothelial dysfunction during PH and explore the potential therapeutic strategy for PH. METHODS AND RESULTS: SIRT7 levels were measured in human and murine experimental PH samples. Bioinformatic analysis, immunoprecipitation, and deacetylation assay were used to identify the association between SIRT7 and Krüpple-like factor 4 (KLF4), a key transcription factor essential for endothelial cell (EC) homeostasis. Sugen5416 + hypoxia (SuHx)-induced PH mouse models and cell cultures were used for the study of the therapeutic effect of SIRT7 for PH. SIRT7 level was significantly reduced in lung tissues and PAECs from PH patients and the SuHx-induced PH mouse model as compared with healthy controls. Pulmonary endothelium-specific depletion of Sirt7 increased right ventricular systolic pressure and exacerbated right ventricular hypertrophy in the SuHx-induced PH model. At the molecular level, we identified KLF4 as a downstream target of SIRT7, which deacetylated KLF4 at K228 and inhibited the ubiquitination-proteasome degradation. Thus, the SIRT7/KLF4 axis maintained PAEC homeostasis by regulating proliferation, migration, and tube formation. PAEC dysfunction was reversed by adeno-associated virus type 1 vector-mediated endothelial overexpression of Sirt7 or supplementation with nicotinamide adenine dinucleotide (NAD)+ intermediate nicotinamide riboside which activated Sirt7; both approaches successfully reversed PH phenotypes. CONCLUSION: The SIRT7/KLF4 axis ensures PAEC homeostasis, and pulmonary endothelium-specific SIRT7 targeting might constitute a PH therapeutic strategy