Publications by authors named "Xin-Hua Wang"

155 Publications

First complete mitogenomes of Diamesinae, Orthocladiinae, Prodiamesinae, Tanypodinae (Diptera: Chironomidae) and their implication in phylogenetics.

PeerJ 2021 6;9:e11294. Epub 2021 May 6.

College of Life Sciences, Nankai University, Tianjin, China.

Background: The mitochondrial genome (mitogenome) has been extensively used for phylogenetic and evolutionary analysis in Diptera, but the study of mitogenome is still scarce in the family Chironomidae.

Methods: Here, the first complete mitochondrial genomes of four Chironomid species representing Diamesinae, Orthocladiinae, Prodiamesinae and Tanypodinae are presented. Coupled with published mitogenomes of two, a comparative mitochondrial genomic analysis between six subfamilies of Chironomidae was carried out.

Results: Mitogenomes of Chironomidae are conserved in structure, each contains 37 typical genes and a control region, and all genes arrange the same gene order as the ancestral insect mitogenome. Nucleotide composition is highly biased, the control region displayed the highest A + T content. All protein coding genes are under purifying selection, and the ATP8 evolves at the fastest rate. In addition, the phylogenetic analysis covering six subfamilies within Chironomidae was conducted. The monophyly of Chironomidae is strongly supported. However, the topology of six subfamilies based on mitogenomes in this study is inconsistent with previous morphological and molecular studies. This may be due to the high mutation rate of the mitochondrial genetic markers within Chironomidae. Our results indicate that mitogenomes showed poor signals in phylogenetic reconstructions at the subfamily level of Chironomidae.
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http://dx.doi.org/10.7717/peerj.11294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8106913PMC
May 2021

Etiological, epidemiological, and clinical features of acute diarrhea in China.

Nat Commun 2021 04 29;12(1):2464. Epub 2021 Apr 29.

The Institute for Disease Prevention and Control of PLA, Beijing, China.

National-based prospective surveillance of all-age patients with acute diarrhea was conducted in China between 2009‒2018. Here we report the etiological, epidemiological, and clinical features of the 152,792 eligible patients enrolled in this analysis. Rotavirus A and norovirus are the two leading viral pathogens detected in the patients, followed by adenovirus and astrovirus. Diarrheagenic Escherichia coli and nontyphoidal Salmonella are the two leading bacterial pathogens, followed by Shigella and Vibrio parahaemolyticus. Patients aged <5 years had higher overall positive rate of viral pathogens, while bacterial pathogens were more common in patients aged 18‒45 years. A joinpoint analysis revealed the age-specific positivity rate and how this varied for individual pathogens. Our findings fill crucial gaps of how the distributions of enteropathogens change across China in patients with diarrhea. This allows enhanced identification of the predominant diarrheal pathogen candidates for diagnosis in clinical practice and more targeted application of prevention and control measures.
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http://dx.doi.org/10.1038/s41467-021-22551-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8085116PMC
April 2021

[Source and Health Risk Assessment of PM-Bound Metallic Elements in Road Dust in Zibo City].

Huan Jing Ke Xue 2021 Mar;42(3):1245-1254

State Key Laboratory of Environmental Criteria and Risk Assessment, Chinese Research Academy of Environmental Sciences, Beijing 100012, China.

To study the pollution characteristics, sources, and ecological and health risk of PM-bound metallic elements in road dust in Zibo City, a total of 97 dust samples were collected in eight districts between October 2016 and May 2017, and particles smaller than 2.5 μm were suspended filtered using a resuspension system. Inductively coupled plasma mass spectrometry (ICP-MS) and optical emission spectrometry (ICP-OES) were used to investigate 18 metal elements within the dust samples. The results showed that the mass fraction of Ca[(Ca)] was highest with an average of 120307.7 mg·kg, which was 7.2 times higher than the soil background values for Shandong Province. The mean values of (Zn), (Cu), (Sb), and (Cd) were 13.9, 11.7, 13.3, and 29.6 times higher than the background values, respectively. The geo-accumulation index () indicated high levels of Cd, Zn, Cu, and Sb pollution, especially in winter. Enrichment factors (EFs) also indicated high concentrations of Cd, Zn, Sb, and Cu in the road dust, which were notably affected by human activities. Principal component analysis (PCA) showed that biomass combustion, coal burning, vehicle emissions, iron and steel smelting, and soil dust are the five main sources of metal elements in road dust in Zibo City. The potential ecological risk of Cd and the total potential risk were extremely high during three seasons and was highest in winter. Health risk assessment showed that As and Pb had a non-carcinogenic risk for children, while Cr presents a carcinogenic risk. In conclusion, pollution from PM-bound metallic elements in road dust in Zibo City is derived from anthropogenic sources and is most severe during winter. Importantly, the levels of pollution detected represent potential ecological risk as well as some non-carcinogenic and carcinogenic risks for children. Therefore, the source control of road dust requires particular attention.
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http://dx.doi.org/10.13227/j.hjkx.202007176DOI Listing
March 2021

A new species of () (Diptera, Chironomidae) from Oriental China.

Zookeys 2021 22;1011:139-148. Epub 2021 Jan 22.

College of Life Sciences, Nankai University, Tianjin, 300071, China Nankai University Tianjin China.

Polypedilum (Cerobregma) huapingensis Liu & Lin, is described and illustrated based on an adult male from Huaping National Nature Reserve, Guangxi, China. A DNA barcode analysis, including the known partial COI sequences of species in the subgenus, was conducted. An updated key to adult males of the subgenus Cerobregma is provided.
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http://dx.doi.org/10.3897/zookeys.1011.59554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7847467PMC
January 2021

Suppression of lncRNA HOTAIR alleviates RCC angiogenesis through regulating miR-126/EGFL7 axis.

Am J Physiol Cell Physiol 2021 May 27;320(5):C880-C891. Epub 2021 Jan 27.

Department of Pathology, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, People's Hospital of Henan University, Zhengzhou, People's Republic of China.

Renal cell carcinoma (RCC) has the highest mortality rate among urological cancers and tumor angiogenesis that plays a critical role in RCC progress. Epidermal growth factor-like domain multiple 7 (EGFL7) has been recently identified as a regulator in RCC tumor angiogenesis and progression. Long noncoding RNA (LncRNA) HOTAIR has been considered as a pro-oncogene in multiple cancers, but its precise mechanism of tumor angiogenesis has rarely been reported. MicroRNA-126 (miR-126) functions as a tumor suppressor in RCC. However, the underlying tumor angiogenesis mechanism of HOTAIR/miR-126 axis in RCC has not been studied. The proliferation, migration, angiogenesis, and expression of EGFL7 and related proteins in extracellular signal-regulated kinase (ERK)/activators of transcription 3 (STAT3) signal pathway were determined to examine the effect and mechanism of HOTAIR and miR-126 on RCC progress. The regulatory relationship of HOTAIR and miR-126, as well as miR-126 and EGFL7 were tested using dual-luciferase reporter assay. Aenograft RCC mice model was used to examine the effect of HOTAIR on RCC tumor growth and metastasis in vivo. HOTAIR knockdown and miR-126 overexpression suppressed the proliferation, migration, and angiogenesis of RCC cells. HOTAIR regulated EGFL7 expression by competitively binding to miR-126. Knockdown of HOTAIR significantly suppressed the RCC tumor progression and lung metastasis in vivo. These findings suggest that lncRNA HOTAIR regulate RCC angiogenesis through miR-126/EGFL7 axis and provide a new perspective on the molecular pathways of angiogenesis in RCC development, which might be potential therapeutic targets for RCC treatment.
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http://dx.doi.org/10.1152/ajpcell.00459.2019DOI Listing
May 2021

Corynoneura Winnertz (Diptera, Chironomidae, Orthocladiinae) from Zhejiang Province, China.

Zootaxa 2020 Dec 1;4890(1):zootaxa.4890.1.4. Epub 2020 Dec 1.

Hubei Key Laboratory of Economic Forest Germplasm Improvement and Resources Comprehensive Utilization, Hubei Collaborative Innovation Center for the Characteristic Resources Exploitation of Dabie Mountains, Hubei Zhongke Research Institute of Industrial Technology, Huanggang Normal University, Huanggang City, Hubei, 438000, P.R. China.

The genus Corynoneura Winnertz, 1846 from Zhejiang Province in Oriental China is reviewed. Corynoneura aggeris Fu, sp. n., Corynoneura lateralis Fu, sp. n., Corynoneura petitspectabilis Fu, sp. n., Corynoneura prolata Fu, sp. n., and Corynoneura recta Fu, sp. n. are described and illustrated based on adult males. Corynoneura lobata Edwards, 1924 and Corynoneura tokarapequea Sasa et Suzuki, 1995 are redescribed and illustrated based on newly collected material. A key to known adult males of Corynoneura from Zhejiang Province is given.
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http://dx.doi.org/10.11646/zootaxa.4890.1.4DOI Listing
December 2020

A novel TBX5 mutation predisposes to familial cardiac septal defects and atrial fibrillation as well as bicuspid aortic valve.

Genet Mol Biol 2020 13;43(4):e20200142. Epub 2020 Nov 13.

Fudan University, Department of Cardiology, Shanghai Fifth People's Hospital, Shanghai, China.

TBX5 has been linked to Holt-Oram syndrome, with congenital heart defect (CHD) and atrial fibrillation (AF) being two major cardiac phenotypes. However, the prevalence of a TBX5 variation in patients with CHD and AF remains obscure. In this research, by sequencing analysis of TBX5 in 178 index patients with both CHD and AF, a novel heterozygous variation, NM_000192.3: c.577G>T; p.(Gly193*), was identified in one index patient with CHD and AF as well as bicuspid aortic valve (BAV), with an allele frequency of approximately 0.28%. Genetic analysis of the proband's pedigree showed that the variation co-segregated with the diseases. The pathogenic variation was not detected in 292 unrelated healthy subjects. Functional analysis by using a dual-luciferase reporter assay system showed that the Gly193*-mutant TBX5 protein failed to transcriptionally activate its target genes MYH6 and NPPA. Moreover, the mutation nullified the synergistic transactivation between TBX5 and GATA4 as well as NKX2-5. Additionally, whole-exome sequencing analysis showed no other genes contributing to the diseases. This investigation firstly links a pathogenic variant in the TBX5 gene to familial CHD and AF as well as BAV, suggesting that CHD and AF as well as BAV share a common developmental basis in a subset of patients.
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http://dx.doi.org/10.1590/1678-4685-GMB-2020-0142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7783509PMC
November 2020

Species delimitation and life stage association of Kieffer, 1923 (Diptera, Chironomidae) using DNA barcodes.

Zookeys 2020 12;975:79-86. Epub 2020 Oct 12.

College of Life Sciences, Nankai University, Tianjin, 300071, China.

The utility of COI DNA barcodes in species delimitation is explored as well as life stage associations of five closely related species: (Tokunaga, 1938), (Lundström, 1915), Wang, Liu et Paasivirta, 2007, Sæther et Wang, 1996, and (Wen, Zhou et Rong, 1994). Results revealed distinctly larger interspecific than intraspecific divergences and indicated a clear "barcode gap". In total, 42 COI barcode sequences including 16 newly generated DNA barcodes were applied to seven Barcode Index Numbers (BINs). A neighbor-joining (NJ) tree comprises five well-separated clusters representing five morphospecies. Comments on how to distinguish the larvae of and are provided.
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http://dx.doi.org/10.3897/zookeys.957.54668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7572518PMC
October 2020

DNA barcodes and morphology confirm a new species of Rheocricotopus (Psilocricotopus) orientalis group (Diptera: Chironomidae).

Zootaxa 2020 May 1;4768(2):zootaxa.4768.2.9. Epub 2020 May 1.

College of Life Sciences, Nankai University, Tianjin, 300071, P.R. China.

Morphology and DNA barcodes confirm a new chironomid species within the Rheocricotopus (Psilocricotopus) orientalis group (Diptera: Chironomidae). Rheocricotopus (Psilocricotopus) kongi Lin et Wang sp. n. is described and illustrated based on adult male from Hainan, China. Key to adult males of the R. orientalis group is given.
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http://dx.doi.org/10.11646/zootaxa.4768.2.9DOI Listing
May 2020

Historical Introgression from Wild Relatives Enhanced Climatic Adaptation and Resistance to Pneumonia in Sheep.

Mol Biol Evol 2021 03;38(3):838-855

Department of Animal Breeding and Genetics, Justus-Liebig-University Giessen, Giessen, Germany.

How animals, particularly livestock, adapt to various climates and environments over short evolutionary time is of fundamental biological interest. Further, understanding the genetic mechanisms of adaptation in indigenous livestock populations is important for designing appropriate breeding programs to cope with the impacts of changing climate. Here, we conducted a comprehensive genomic analysis of diversity, interspecies introgression, and climate-mediated selective signatures in a global sample of sheep and their wild relatives. By examining 600K and 50K genome-wide single nucleotide polymorphism data from 3,447 samples representing 111 domestic sheep populations and 403 samples from all their seven wild relatives (argali, Asiatic mouflon, European mouflon, urial, snow sheep, bighorn, and thinhorn sheep), coupled with 88 whole-genome sequences, we detected clear signals of common introgression from wild relatives into sympatric domestic populations, thereby increasing their genomic diversities. The introgressions provided beneficial genetic variants in native populations, which were significantly associated with local climatic adaptation. We observed common introgression signals of alleles in olfactory-related genes (e.g., ADCY3 and TRPV1) and the PADI gene family including in particular PADI2, which is associated with antibacterial innate immunity. Further analyses of whole-genome sequences showed that the introgressed alleles in a specific region of PADI2 (chr2: 248,302,667-248,306,614) correlate with resistance to pneumonia. We conclude that wild introgression enhanced climatic adaptation and resistance to pneumonia in sheep. This has enabled them to adapt to varying climatic and environmental conditions after domestication.
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http://dx.doi.org/10.1093/molbev/msaa236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7947771PMC
March 2021

ISL1 loss-of-function variation causes familial atrial fibrillation.

Eur J Med Genet 2020 Nov 6;63(11):104029. Epub 2020 Aug 6.

Department of Cardiology, Shanghai Fifth People's Hospital, Fudan University, Shanghai, China; Cardiovascular Research Laboratory, Shanghai Fifth People's Hospital, Fudan University, Shanghai, China; Central Laboratory, Shanghai Fifth People's Hospital, Fudan University, Shanghai, China. Electronic address:

Atrial fibrillation (AF) represents the most frequent form of sustained cardiac rhythm disturbance, affecting approximately 1% of the general population worldwide, and confers a substantially enhanced risk of cerebral stroke, heart failure, and death. Increasing epidemiological studies have clearly demonstrated a strong genetic basis for AF, and variants in a wide range of genes, including those coding for ion channels, gap junction channels, cardiac structural proteins and transcription factors, have been identified to underlie AF. Nevertheless, the genetic pathogenesis of AF is complex and still far from completely understood. Here, whole-exome sequencing and bioinformatics analyses of a three-generation family with AF were performed, and after filtering variants by multiple metrics, we identified a heterozygous variant in the ISL1 gene (encoding a transcription factor critical for embryonic cardiogenesis and postnatal cardiac remodeling), NM_002202.2: c.481G > T; p.(Glu161*), which was validated by Sanger sequencing and segregated with autosome-dominant AF in the family with complete penetrance. The nonsense variant was absent from 284 unrelated healthy individuals used as controls. Functional assays with a dual-luciferase reporter assay system revealed that the truncating ISL1 protein lost transcriptional activation on the verified target genes MEF2C and NKX2-5. Additionally, the variant nullified the synergistic transactivation between ISL1 and TBX5 as well as GATA4, two other transcription factors that have been implicated in AF. The findings suggest ISL1 as a novel gene contributing to AF, which adds new insight to the genetic mechanisms underpinning AF, implying potential implications for genetic testing and risk stratification of the AF family members.
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http://dx.doi.org/10.1016/j.ejmg.2020.104029DOI Listing
November 2020

Mitral isthmus block is associated with favorable outcomes after reablation for long-standing persistent atrial fibrillation.

Clin Cardiol 2020 Oct 8;43(10):1119-1125. Epub 2020 Jul 8.

Department of Cardiology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Background: Mitral isthmus (MI) ablation was limited due to technical challenges in the index ablation for long-standing persistent atrial fibrillation (LPeAF). The role of adjunctive MI ablation was controversial.

Hypothesis: MI block could be achieved in most patients undergoing repeat LPeAF ablation and was associated with favorable clinical outcomes.

Methods: Of 87 consecutively patients undergoing reablation for recurrent atrial tachyarrhythmias (ATa), 41 patients with residual MI conduction but without pulmonary vein reconnection or left atrial roof conduction were enrolled to treat recurrent atrial flutter (AFL) (n = 20) and AF (n = 21). After AFL ablation and AF cardioversion, MI conduction gaps (CGs) were mapped and closed.

Results: MI line was successfully blocked in 37 (90.2%) of 41 patients after closing 1.4 ± 0.5 CGs (31 endocardial CGs and 16 epicardial ones) in the initial MI lines. CGs were more often located at the endocardial sites close to the lateral ridge between left atrial appendage and left-sided PVs, midportion of MI and at the epicardial breakthroughs within coronary sinus. At the end of 16.0 ± 1.9 months' follow-up, 31 (83.8%) of 37 patients with MI block and 1 of 4 patients without MI block were free of further recurrence of ATa off anti-arrhythmic drugs. MI block was positively associated with ATa-free survival by Cox's regression analysis (hazard ratio [HR]: 0.012, 95% confidence interval [CI]: 0.000-0.456, P = .02).

Conclusions: MI block could be achieved in the majority of patients during repeat ablation for LPeAF. MI block was associated with favorable clinical outcomes after LPeAF reablation.
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http://dx.doi.org/10.1002/clc.23415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7533998PMC
October 2020

[Distribution Characteristics and Source Apportionment of Elements Bonded with PM and PM in Linyi].

Huan Jing Ke Xue 2020 May;41(5):2036-2043

College of Environmental Science & Safety Engineering, Tianjin University of Technology, Tianjin 300384, China.

To investigate the pollution characteristics and sources of elements bonded with PM and PM in Linyi, PM and PM sample collections were carried out simultaneously in Linyi from December 2016 to October 2017, and 23 elements were determined by inductively coupled plasma mass spectrometry (ICP-MS) and inductively coupled plasma optical emission spectrometry (ICP-OES), with the enrichment factor method and PMF employed to determine the source apportionment. The results indicated that the dominant elements in PM and PM were recognized as Si, Ca, Al, Fe, K, Na, and Mg, accounting for 92.93% and 94.61% of the total measured elements, respectively. The concentrations of 18 elements (excluding Ti, Ni, Mo, Cd, and Mg) were highest in winter and spring, and lowest in summer and autumn. Si, Al, Ca, K, and Na showed the highest levels in spring, mainly distributed in coarse particles; Cu, Zn, Pb, and Sb showed the highest levels in winter, mainly distributed in fine particles. The enrichment factor results showed that the enrichment of Cd, Sb, and Bi was significant, mainly originated by anthropogenic sources such as coal combustion, industrial production, and waste incineration. Based on the analysis results of PMF, coal, and copper smelting, municipal waste incineration, fugitive dust, vehicle emissions, and industrial sources were the main sources of elements in PM, accounting for 22.64%, 7.49%, 41.22%, 14.71%, and 13.94%, respectively. For PM, fugitive dust, coal and copper smelting, vehicle emissions, and industrial sources were the main sources of elements, contributing 55.47%, 19.80%, 7.48%, and 12.83%, respectively. Our results suggested that the main contributors to particulate matter pollution in Linyi during the sampling period were fugitive dust, and coal and copper smelting.
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http://dx.doi.org/10.13227/j.hjkx.201909237DOI Listing
May 2020

Whole-genome resequencing of wild and domestic sheep identifies genes associated with morphological and agronomic traits.

Nat Commun 2020 06 4;11(1):2815. Epub 2020 Jun 4.

Small Ruminant Genomics, International Centre for Agricultural Research in the Dry Areas (ICARDA), Addis Ababa, Ethiopia.

Understanding the genetic changes underlying phenotypic variation in sheep (Ovis aries) may facilitate our efforts towards further improvement. Here, we report the deep resequencing of 248 sheep including the wild ancestor (O. orientalis), landraces, and improved breeds. We explored the sheep variome and selection signatures. We detected genomic regions harboring genes associated with distinct morphological and agronomic traits, which may be past and potential future targets of domestication, breeding, and selection. Furthermore, we found non-synonymous mutations in a set of plausible candidate genes and significant differences in their allele frequency distributions across breeds. We identified PDGFD as a likely causal gene for fat deposition in the tails of sheep through transcriptome, RT-PCR, qPCR, and Western blot analyses. Our results provide insights into the demographic history of sheep and a valuable genomic resource for future genetic studies and improved genome-assisted breeding of sheep and other domestic animals.
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http://dx.doi.org/10.1038/s41467-020-16485-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272655PMC
June 2020

Indole alkaloids from leaves of Alstonia scholaris (L.) R. Br. protect against emphysema in mice.

J Ethnopharmacol 2020 Sep 5;259:112949. Epub 2020 May 5.

Key Laboratory of Medicinal Chemistry for Natural Resource, Ministry of Education and Yunnan Province, School of Chemical Science and Technology, Yunnan University, Kunming 650091, PR China; State Key Laboratory of Phytochemistry and Plant Resources in West China, Kunming Institute of Botany, Chinese Academy of Sciences, Kunming, 650201, PR China. Electronic address:

Ethnopharmacological Relevance: Alstonia scholaris (L.) R. Br. (Apocynaceae) is a medicinal plant in China traditionally used to treat pulmonary diseases, including bronchitis, whooping cough, asthma and chronic obstructive pulmonary disease.

Aim Of The Study: To provide experimental data supporting clinical adaptation of total indole alkaloids ( TA) from A. scholaris leaves for treating emphysema.

Materials And Methods: An emphysema model was induced by a single intratracheal instillation of porcine pancreatic elastase followed by administration of TA and four main alkaloid components (scholaricine, 19-epischolaricine, vallesamine, and picrinine) for 30 consecutive days. Cytokine levels, histopathological parameters and protein expression in lung tissues were examined.

Results: Administering the TA, picrinine, scholaricine, 19-epischolaricine and vallesamine for 30 days effectively inhibited inflammatory cell accumulation and invasion in the lung tissue and relieved pulmonary tissue injury. Oxygen saturation was enhanced, and interleukin (IL)-1β, monocyte-chemo attractive peptide 1, IL-11, matrix metalloproteinase-12, transforming growth factor-β and vascular endothelial growth factor levels were significantly reduced, likely by suppressing overactivation of alveolar macrophages and pulmonary fibrosis. The elastin content was markedly elevated, and fibronectin was reduced. Bcl-2 expression was significantly increased, and nuclear factor-κB and β-catenin levels were decreased.

Conclusions: TA can be potentially used as an effective novel drug for pulmonary emphysema and exerts its effects through not only inhibiting inflammation of the airway wall and airflow resistance but also promoting lung elastic recoil and protease/anti-protease balance.
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http://dx.doi.org/10.1016/j.jep.2020.112949DOI Listing
September 2020

A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2).

Front Pediatr 2020 28;8:64. Epub 2020 Feb 28.

Children's Hospital of Fudan University, Shanghai, China.

Infantile X-linked spinal muscular atrophy (SMAX2) is a rare type of spinal muscular atrophy associated with variants. Clinical imaging and neurophysiological tests were performed on a Chinese patient with SMAX2. Further, focused panel sequencing of was carried out on samples of both the proband and his maternal relatives. The proband, a 4-year-old boy with the SMAX2 phenotype, suffered from reduced exercise capacity since infancy. His other symptoms included speech difficulties, severe nasal tone, reduced distal muscle strength, areflexia, and inadequate sucking ability. The brain MRI of the proband's showed normal results but the electromyography results showed multiple peripheral neurogenic lesions. Five male members of the proband's family were affected with the SMAX2 phenotype. They presented similar symptoms and had experienced a long and autonomous life. Molecular analysis revealed a novel missense variant (c.1617G>A, p.Met539Ile) in the exon 15 of . The proband's mother, as well as grandmother, carried the heterozygous missense variant; whereas, the male patients from the family carried the hemizygotic variant. The affected members in this Chinese family showed unique features such as extended life span, no fractures, and cramps as compared with previously reported SMAX2 cases. The novel missense variant (c.1617G>A (p.Met539Ile) in UBA1 highlights the critical role of this gene in causing SMAX2 phenotype.
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http://dx.doi.org/10.3389/fped.2020.00064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059435PMC
February 2020

Enhanced aerobic granulation at low temperature by stepwise increasing of salinity.

Sci Total Environ 2020 Jun 2;722:137660. Epub 2020 Mar 2.

Shandong Provincial Key Laboratory of Water Pollution Control and Resource Reuse, School of Environmental Science and Engineering, Shandong University, Qingdao, Shandong 266237, China. Electronic address:

High salinity and low temperature are generally considered to have negative effects on the formation, stability and performance of aerobic granular sludge (AGS). This study investigated whether and how salinity acclimation strategies can enhance aerobic granulation at low temperature (12 °C) in three sequencing batch reactors (SBRs). Stepwise increased concentrations of NaCl (2-10 and 4-20 g/L) were added to the influent of R1 and R2 with steps of 1 and 2 g/L per week respectively, while R0 was set as a control (salt-free). The granulation processes in R1 and R2 were rapidly started up within 9 days, and were completed within 21 and 18 days, respectively. By contrast, R0 took 25 days and 49 days to start and complete granulation. The salinity acclimation strategies improved sludge hydrophobicity, reduced repulsion barrier between cells, and stimulated EPS production during granulation processes, which simultaneously promoted the formation of AGS. When the influent salinity reached 14 g/L on day 35, granule hydrophobicity, density and size in R2 sharply decreased and granules began to disintegrate afterwards. When operated under salt-free condition, sludge bulking occurred in R0 since day 60. The treatment performance was thus impaired in these two reactors, especially in R2 with significant biomass loss. Conversely, the AGS developed in R1 maintained stable structure with high biomass concentration (8.0 gSS/L) and excellent treatment performance for COD (90%), ammonium (95%) and total nitrogen (70%). Genera Thauera, Azoarcus, and Nitrosomonas were more enriched, while Flavobacterium and Meganema were more suppressed in R1, which would have contributed to granule stability and treatment performance. In conclusion, great care has to be taken for cultivating and operating AGS at low temperature for treating saline wastewater. Increasing salinity with a lower salt gradient provides a possibility for rapid granulation of AGS with excellent treatment performance under such conditions.
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http://dx.doi.org/10.1016/j.scitotenv.2020.137660DOI Listing
June 2020

Direct versus conventional anticoagulants for treatment of cancer associated thrombosis: a pooled and interaction analysis between observational studies and randomized clinical trials.

Ann Transl Med 2020 Feb;8(4):95

Department of Pharmacy, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200127, China.

Background: There are emerging observational studies (OSs) to assess real-world comparative effectiveness and safety of direct oral anticoagulants (DOACs) in cancer associated thrombosis (CAT). We conducted a pooled and interaction analysis to compare the treatment effect estimates of DOACs between OSs and randomized controlled trials (RCTs).

Methods: We systematically searched PUBMED, EMBASE and Cochrane Library for OSs and RCTs that reported recurrent venous thromboembolism (VTE) and/or major bleeding events in CAT patients receiving DOACs and conventional anticoagulants [warfarin or low molecular-weight heparins (LMWHs)]. Relative risks (RRs) for OSs and RCTs were calculated using random-effects models separately, and interaction analyses were afterward applied to assess the comparability between OSs and RCTs.

Results: Baseline characteristic was comparable between identified 10 OSs (35,142 patients) and 8 RCTs (2,602 patients). Overall, no significant difference of treatment effect estimates between OSs and RCTs was detected (P: 0.42 for recurrent VTE; P: 0.38 for major bleeding). DOACs significantly decreased the risk of recurrent VTE compared with conventional anticoagulants in CAT patients (RR: 0.74, 95% CI: 0.63-0.86, I: 0% for OSs; RR: 0.65, 95% CI: 0.49-0.86; I: 0% for RCTs), without increasing major bleeding risk (RR: 0.90, 95% CI: 0.76-1.07, I: 24.0% for OSs; RR: 1.17, 95% CI: 0.72-1.88, I: 26.2% for RCTs). Whereas, increased risk of gastrointestinal bleeding (GIB) was found with DOACs versus conventional anticoagulants in CAT patients (RR: 2.77, 95% CI: 1.35-5.68, I: 0% for RCTs). Analyses of subgroups, based on comparators and follow-up duration, did not significantly affect results.

Conclusions: In this study, effectiveness and safety of DOACs versus conventional anticoagulants in CAT from OSs are in agreement with those from RCTs, confirming a low risk of recurrent VTE and similar risk of major bleeding in CAT patients receiving DOACs.
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http://dx.doi.org/10.21037/atm.2019.12.152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049023PMC
February 2020

Baseline and early 3D-CUBE volume reconstruction of locally advanced rectal cancer to predict tumor response after neoadjuvant chemotherapy.

J Xray Sci Technol 2020 ;28(2):231-241

Department of Radiology, the Sixth Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Colorectal and Pelvic Floor Disease, Guangzhou, China.

Purpose: To explore whether volumetric measurements of 3D-CUBE sequences based on baseline and early treatment time can predict neoadjuvent chemotherapy (NCT) efficacy of locally advanced rectal cancer (LARC).

Material And Method: 73 patients with LARC were enrolled from February 2014 to January 2018. All patients underwent MRIs during the baseline period before NCT (BL-NCT) and the first month of NCT (FM-NCT), and tumor volume (TV) was measured using 3D-CUBE, and tumor volume reduction (TVR) and tumor volume reduction rate (TVRR) were calculated. In addition, tumor invasion depth, tumor maximal length, range of tumor involvement in the circumference of intestinal lumen and distance from inferior part of tumor to the anal verge were measured using baseline high-spatial-resolution T2-weighted MRIs. All patients were categorized into sensitive and insensitive groups based on post-surgical pathology after completion of the full courses of NCT. The receiver operating characteristic (ROC) curve was used to analyze the value of different MRI parameters in predicting efficacy of NCT.

Results: Statistically significant differences in TV of BL-NCT, TVR and TVRR from BL-NCT to FM-NCT were detected between sensitive and insensitive groups (P < 0.05, respectively). The areas under the curves (AUC) of ROC of TVR and TVRR in predicting efficacy of NCT (0.890 [95% CI, 0.795∼0.951], 0.839 [95% CI, 0.735∼0.915]) were significantly better than that of TV (0.660 [95% CI, 0.540∼0.767]) (P < 0.05, respectively).

Conclusion: Reconstruction of 3D-CUBE volume in the first month of NCT is necessary, and both TVR and TVRR can be used as early predictors of NCT efficacy.
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http://dx.doi.org/10.3233/XST-190594DOI Listing
April 2021

[Emission Characteristics of Exhaust PM and Its Carbonaceous Components from China Ⅲ to China Ⅳ Diesel Vehicles in Shenyang].

Huan Jing Ke Xue 2019 Oct;40(10):4330-4336

State Key Laboratory of Environmental Criteria and Risk Assessment, Chinese Research Academy of Environmental Sciences, Beijing 100012, China.

Diesel vehicles were the primary source of atmospheric particulate matter (PM) emitted by motor vehicles. To study the emission factors and carbon components of PM and PM from diesel vehicles in Shenyang, exhaust PM samples were collected from 15 diesel vehicles including small, medium, and large passenger vehicles, and light, medium, and heavy-duty trucks under China Ⅲ and China Ⅳ emission standards. This was undertaken using a dilution channel sampling system, and the carbon components were also analyzed. The results showed that the average distance-based PM and PM emission factors for diesel vehicles under China Ⅲ were (0.193±0.092) g·km and (0.338±0.305) g·km, respectively, and for China Ⅳ were (0.085±0.038) g·km and (0.100±0.042) g·km, respectively. This shows that the PM emission factors decreased significantly with the improvement of emission standards. Under the same emission standards, emission factors increased with the increase of vehicle passenger volume or cargo capacity. TC (total carbon) was the main component of the emissions from diesel vehicles. The mass fraction of TC under China Ⅳ (23%-48%) was significantly lower than under China Ⅲ (29%-70%). The mass fraction of elemental carbon (EC) for all types of diesel vehicles was greater than organic carbon (OC). The OC/EC value was 0.70±0.29, and the OC/EC value for diesel vehicles under China Ⅳ was lower than under China Ⅲ. The total mileage of passenger vehicles was significantly higher than that of trucks, resulting in higher fuel consumption. The mass fraction of OC and EC in passenger vehicles was higher than for trucks under the same emission standards. EC2 (elemental carbon which was measured at temperatures of 700℃) was the highest carbon content of diesel vehicles under China Ⅲ and China Ⅳ emission standards, which can be used in the identification of diesel vehicles in source apportionment studies.
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http://dx.doi.org/10.13227/j.hjkx.201903125DOI Listing
October 2019

[Characterization of PM and PM Source Profiles for Emissions from Nonmetal Mineral Products Manufacturing Processes].

Huan Jing Ke Xue 2019 Jun;40(6):2526-2532

State Key Laboratory of Environmental Criteria and Risk Assessment, Chinese Research Academy of Environmental Sciences, Beijing 100012, China.

In view of the insufficient source profiles for emissions from nonmetal mineral products manufacturing processes in China, a dilution sampling system was used to collect PM and PM samples from glassmaking, ceramics, and firebrick manufacturing sources between February and June of 2017. The characteristics of 50 chemical components in the samples were studied to identify source profiles. The results showed that the dominant composition of particulate matter in glassmaking plant profiles was Na, with percentages ranging from 9.2% to 18.5%. Ceramics profiles were enriched in Al, Si, Ca, and Fe, with percentages ranging from 1.7% to 8.7%. Refractory brick and shale manufacturing process profiles were characterized by high abundances of SO (36.9%-48.1%) and NH (7.7%-17.0%). Chemical components in the source profiles varied with the different fuel types and desulfurization, denitrification, and dedusting methods. The coefficients of divergence (CD) between PM and PM from the same process were similar except for the results from the shale manufacturing process (CD values>0.3), thus indicating that the elements profiles of PM might be similar to those in PM. Profiles of the same particle size from different processes were significantly different from one another, with CD values ranging from 0.42 to 0.76. The CD values for float glass and medicinal glass, and the CD values for the two ceramic enterprises were relatively small. The distributions of weighted differences ( ratios) were used to compare the differences of components between the source profiles, and results showed that the identified components for glass manufacturing, ceramic manufacturing, fireproof bricks, and page rock bricks were Na and As, Al and Ti, NO and NH, and SO and NH, respectively.
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http://dx.doi.org/10.13227/j.hjkx.201811100DOI Listing
June 2019

MicroRNA expression signatures of atrial fibrillation: The critical systematic review and bioinformatics analysis.

Exp Biol Med (Maywood) 2020 01 25;245(1):42-53. Epub 2019 Nov 25.

Department of Pharmacy, Affiliated Hospital of Shaoxing University, Shao Xing 312000, China.

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http://dx.doi.org/10.1177/1535370219890303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6987745PMC
January 2020

Polypedilum (Cerobregma) heberti sp. n. (Diptera: Chironomidae) from Gaoligong Mountains, Yunnan, China.

Zootaxa 2019 Mar 26;4571(2):zootaxa.4571.2.5. Epub 2019 Mar 26.

College of Life Sciences, Nankai University, Tianjin, 300071, P.R. China.

DNA barcodes and morphology recognize a new non-biting midge within the genus Polypedilum (Diptera: Chironomidae). Polypedilum (Cerobregma) heberti Lin et Wang sp. n. is described and illustrated based on an adult male from Gaoligong Mountains, Yunnan, China. Key to adult males of the subgenus Cerobregma is given.
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http://dx.doi.org/10.11646/zootaxa.4571.2.5DOI Listing
March 2019

Effectiveness of rehabilitation training combined acupuncture for the treatment of neurogenic bladder secondary to spinal cord injury.

Medicine (Baltimore) 2019 Sep;98(39):e17322

Department of Rehabilitation, Tongde Hospital of Zhejiang Province.

Background: This study will aim to assess the effectiveness of the rehabilitation training (RT) combined acupuncture for the treatment of patients with neurogenic bladder (NB) secondary to the spinal cord injury (SCI).

Methods: We will conduct a comprehensive literature search from the following databases from the inceptions to the present with no language limitation: PUBMED, EMBASE, Cochrane Library, SinoMed, Web of Science, Allied and Complementary Medicine Database, VIP, WANGFANG, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure. Additionally, we will also search gray literature, including dissertations and conference proceedings. RevMan V.5.3 software will be used for the study selection, assessment of bias of bias, and data synthesis.

Results: This study will synthesize the available evidence of RT combined with acupuncture for NB secondary to SCI, including episodes of urinary incontinence, urinary retention, urinary tract infection, bladder overactivity, quality of life, and adverse events.

Conclusion: This study will determine whether RT combined acupuncture is an effective and safety therapy for NB secondary to SCI.

Systematic Review Registration: PROSPERO CRD42019146127.
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http://dx.doi.org/10.1097/MD.0000000000017322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6775361PMC
September 2019

Clinical Characteristics and Outcomes of Pediatric Cerebral Venous Sinus Thrombosis: An Analysis of 30 Cases in China.

Front Pediatr 2019 4;7:364. Epub 2019 Sep 4.

Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.

Cerebral venous sinus thrombosis (CVST) in children is rare in a clinical setting. The aim of this study was to summarize the etiological, clinical, and imaging characteristics of CVST in children. We retrospectively analyzed the data of 30 patients with a diagnosis of CVST who were admitted to Children's Hospital of Fudan University from 2008 to 2018. The medical records, including clinical manifestations, laboratory data, neurological findings, treatment, and short-term prognosis were analyzed. Etiologically, the causes of CVST were infection (7/30), tumor (3/30), nephritis or nephrotic syndrome (8/30), traumatic brain injury (1/30), and undefined disease (11/30). All 30 cases were diagnosed with CVST after a neuroimaging examination using brain magnetic resonance imaging (MRI) combined with magnetic angiography venography (MRV). With regard to short-term prognosis, all the patients were treated with anticoagulants, after which 26 cases improved. CVST patients do not typically present with specific clinical manifestations, which leads to a high rate of misdiagnosis and delayed therapy. Increased consideration and prompt MRV checkup plays a key role in achieving an accurate diagnosis. Overall, anticoagulation is a safe and effective treatment for CVST.
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http://dx.doi.org/10.3389/fped.2019.00364DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6737727PMC
September 2019

Predictive value of ultrasound-related scoring system on embryo development in early pregnancy after IVF/ICSI: An observation of embryonic quality.

Taiwan J Obstet Gynecol 2019 Jul;58(4):501-504

Community Health Service Center of Pengli Subdistrict, 681 Bohai 9 Road, Binzhou, 256600, China.

Objective: This study aims to evaluate the value of the ultrasound-related scoring system on pregnant patients receiving assisted reproductive technology (IVF/ICSI) and early pregnancy outcome.

Materials And Methods: This prospective study included 208 pregnant women receiving assisted reproductive technology (IVF/ICSI). The following ultrasound parameters were measured: gestational sac size, the proportion of the embryo and gestational sac (embryo/gestational sac), yolk sac size, and fetal cardiac activity. The above data were assigned according to the ongoing pregnancy rate (up to 14 weeks), and the score increased parallel to the pregnancy rate. All patients were grouped according to their scores.

Results: Patients with a score of 4-5 had a low ongoing pregnancy rate of 14.29%, while patients with a score of 6-7 had an ongoing pregnancy rate of 55.56%. Surprisingly, patients with a score of 8-9 had an ongoing pregnancy rate of 97.22%. In addition, it was found that the ongoing pregnancy rate was 100% (36/36) in patients with a score of 9. Conversely, there was no ongoing pregnancy in patients with a score of 4.

Conclusion: First, this scoring system is strongly associated with an ongoing pregnancy of over 14 weeks. Second, some reassurance can be given to patients with favorable ultrasound parameters, regardless of maternal age or previous pregnancy loss. Third, it would be meaningless to continue the pregnancy in patients with a score of 4, according to the scoring system. Fourth, patients without cardiac activity and embryos at days 33-35 after embryo transfer should discontinue the pregnancy, while patients with embryos should proceed with the pregnancy.
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http://dx.doi.org/10.1016/j.tjog.2019.05.013DOI Listing
July 2019

Risk of Major Gastrointestinal Bleeding With New vs Conventional Oral Anticoagulants: A Systematic Review and Meta-analysis.

Clin Gastroenterol Hepatol 2020 04 11;18(4):792-799.e61. Epub 2019 Jun 11.

State Key Laboratory of Oncogenes and Related Genes, Department of Pharmacy, Department of Cardiology, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. Electronic address:

Background & Aims: There is controversy over whether use of non-vitamin K antagonist oral anticoagulants (NOACs) associates with increased risk of major gastrointestinal bleeding (GIB) compared with conventional therapies (such as vitamin K antagonists or anti-platelet agents). We performed a systematic review and meta-analysis of data from randomized controlled trials and high-quality real-world studies.

Methods: We performed a systematic search of the MEDLINE, EMBASE, Cochrane Library, and ClinicalTrials.gov Website databases (through Oct 12, 2018) for randomized controlled trials and high-quality real-world studies that reported major GIB events in patients given NOACs or conventional therapy. Relative risks (RRs) for randomized controlled trials and adjusted hazard ratios (aHRs) for real-world studies were calculated separately using random-effects models.

Results: We analyzed data from 43 randomized controlled trials (183,752 patients) and 41 real-world studies (1,879,428 patients). The pooled major rates of GIB for patients on NOACs (1.19%) vs conventional treatment (0.92%) did not differ significantly (RR from randomized controlled trials, 1.09; 95% CI, 0.91-1.31 and aHR from real-world studies, 1.02; 95% CI, 0.94-1.10; P=.52). Rivaroxaban, but not other NOACs, was associated with an increased risk for major GIB (RR from randomized controlled trials, 1.39; 95% CI, 1.17-1.65 and aHR from real-world studies, 1.14; 95% CI, 1.04-1.23; P = .06). Analyses of subgroups, such as patients with different indications, dosage, or follow-up time, did not significantly affect results. Meta-regression analysis failed to detect any potential confounding to impact the primacy outcome.

Conclusions: In a systematic review and meta-analysis of data from randomized controlled trials and real-world studies, we confirmed that there is no significant difference in risk of major GIB between patients receiving NOACs vs conventional treatment. Rivaroxaban users had a 39% increase in risk for major GIB.
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http://dx.doi.org/10.1016/j.cgh.2019.05.056DOI Listing
April 2020

Activated hippo signal pathway inhibits cell proliferation and promotes apoptosis in NK/T cell lymphoma cells.

Cancer Med 2019 07 23;8(8):3892-3904. Epub 2019 May 23.

Department of Oncology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Background: Natural Killer T-Cell Lymphoma (NKTCL) is a subtype of Non-Hodgkin's Lymphoma, and its morbidity is ranked the first of T-Cell Lymphoma. Hippo signaling pathway is involved in the pathogenesis of tumors. However, the role of Hippo signaling pathway in the oncogenesis of NKTCL still remains unclear.

Methods: The expressions of mammalian sterile 20-like kinase 1 (MST1) and Yes-associated protein (YAP) were investigated by RT-PCR and Western blotting. Cell viability was detected by MTT assays. Cell cycle and cell apoptosis were determined by flow cytometry. Cell proliferative capacity was detected by colony formation assay. Nude mice xenograft models were established and the tumor sections were analyzed by immunohistochemistry (IHC) staining.

Results: The expression of MST1 was significantly down-regulated in NKTCL tissues (n = 30) and cell lines, while the expression of YAP was significantly up-regulated, and the phosphorylation of YAP was inhibited. Overexpression of MST1, knockdown of YAP, or verteporfin (VP) treatment could inhibit cell proliferation, and promote cell cycle arrest and apoptosis in NKTCL cells, while knockdown of MST1 and overexpression of YAP promoted cell proliferation. Additionally, Bcl-2/Bax ratio and downstream effectors of Hippo signaling pathway (c-myc, survivin, cyclinD1, CTGF, and TEAD) were significantly decreased when MST1 was overexpressed and YAP was knocked down or after VP treatment. Furthermore, our mice model demonstrated that activation of Hippo signal pathway suppressed the tumorigenesis of NKTCL.

Conclusion: The activation of Hippo signal pathway via overexpressing MST1 or down-regulating YAP can inhibit the tumorigenesis of NKTCL.
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http://dx.doi.org/10.1002/cam4.2174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639190PMC
July 2019