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Background Primary vesicoureteral reflux (PVUR) is the most common malformation of the kidney and urinary tract, and reflux nephropathy is a major cause of chronic kidney disease in children. Recently, we reported mutations in the tenascin XB gene (TNXB) as a cause of PVUR with joint hypermobility. Methods To define the role of rare variants in tenascin genes in the etiology of PVUR, we screened a cohort of patients with familial PVUR (FPVUR) and non-familial PVUR (NFPVUR) for rare missense variants inTNXB and the tenascin C gene (TNC) after excluding mutations in ROBO2 and SOX17. Results The screening procedure identified 134 individuals from 112 families with PVUR; two families with mutations in ROBO2 were excluded from further analysis. Rare missense variants in TNXB were found in the remaining 110 families, of which 5/55 (9 %) families had FPVUR and 2/55 (4 %) had NFPVUR. There were no differences in high-grade reflux or renal parenchymal scarring between patients with and without TNXB variants. All patients with TNXB rare variants who were tested exhibited joint hypermobility. Overall we were able to identify causes of FPVUR in 7/57 (12 %) families (9 % in TNXB and 3 % in ROBO2). Conclusions In conclusion, the identification of a rare missense variant in TNXB in combination with a positive family history of VUR and joint hypermobility may represent a non-invasive method to diagnose PVUR and warrants further evaluation in other cohorts., Author(s): Shan Elahi[sup.1] , Alison Homstad[sup.1] [sup.2] , Himani Vaidya[sup.1] [sup.2] , Jennifer Stout[sup.1] , Gentzon Hall[sup.2] [sup.3] , Guanghong Wu[sup.2] [sup.3] , Peter Conlon[sup.1] , Jonathan C. Routh[sup.1] [sup.4] [...]

The distribution, risks, and sources of polycyclic aromatic hydrocarbons (PAHs) observed in seawater and sediments in the Bohai Sea were reviewed. The ecological risk of total PAHs in seawater was low, but the ecological risks of several individual PAHs (Pyr, BbF, and IcdP) were high. Detected PAHs in sediments rarely had adverse biological effects. High PAH concentrations were identified in Bohai Bay, in the sea area near Qinhuangdao, in Jinzhou Bay, and in Bohai Strait. Low PAH concentrations were found in the central Bohai, in Laizhou Bay, and in the sea area with more intensive ocean currents near Caofeidian. PAH concentrations in the Bohai Sea present a seaward‐decreasing trend. Their spatial distribution could be attributed to the influence of human activities (population, industrial activities, and shipping activities), which determined PAH emissions. The PAHs were characterized by local sources, indicating that coal consumption and vehicle emissions were important sources of PAHs. Integr Environ Assess Manag 2022;18:1705–1721. © 2022 SETAC KEY POINTS: Spatial distribution of PAH concentrations in the surface sediments of the Bohai Sea was determined.PAH pollution hot spots in the entire Bohai Sea were identified.Divergence of economic development and energy consumption during urbanization and industrialization was the main reason for the PAH distribution in the Bohai Sea sediments.PAH concentrations descended in the order of river > estuary > offshore. [ABSTRACT FROM AUTHOR]

A two–year (2020−2021) survey dataset of six water quality parameters (pH, dissolved oxygen (DO), chemical oxygen demand (COD), dissolved inorganic nitrogen (DIN), soluble reactive phosphate (SRP), and petroleum pollutants) was used to investigate their spatial distribution in the Bohai Sea and quantify their potential sources. There were significant differences in spatial distribution of the parameters. High concentrations of COD, DIN and SRP were found in three bays, with terrestrial input being the main pollution source. Phosphorus–limiting conditions were present in the Bohai Sea. High petroleum pollutant concentrations were identified in port areas, offshore oilfields, and adjacent areas. The pH was above the global oceanic average and there were no signs of acidification. The contribution of the mixed terrestrial inputs, maritime transportation, and offshore oil exploitation sources, oceanic and associated biotic sources, and seawater–atmosphere exchange and atmospheric deposition sources to water quality were 63.4 %, 8.0 %, and 28.6 %, respectively. • Terrestrial inputs are the main sources of organic matter and nutrients. • Port activities and offshore oilfield exploration cause petroleum pollution. • Seawater in the Bohai Sea did not exhibit acidification. • Phosphorus -limiting conditions are present in the Bohai Sea. [ABSTRACT FROM AUTHOR]

This study aimed to determine sediment contamination in the Beidagang Wetland Nature Reserve to describe atmospheric deposition of trace metals. We analyzed Hg, Cd, Pb, TOC, TN, TP, δ13C, and δ15N, and studied their variations in surface sediments and in the vertical profiles of sediment cores collected from the reserve. Evaluation of environmental trace metal contamination using sediment quality guidelines and geochemical background values indicated that the risk of metal pollution in the reserve sediments was relatively low. Concentrations of Hg, Cd, and Pb in the sediments were much lower than concentrations in sediment samples from Bohai Bay and polluted rivers in Tianjin. Enrichment factors indicate that samples are moderately contaminated with Hg, Cd, and Pb; whereas the geo-accumulation index results classify the sediments as uncontaminated to moderately contaminated with Hg, Cd, and Pb. The distribution patterns of trace metal concentrations in the three core samples were uniform. δ13C and δ15N were used to track the sources of TOC and TN in sediments. Results show that TOC mainly originated from the residue and decaying matter of aquatic plants (e.g., algae, reeds, and Typha), while TN was derived from soil N and elevated atmospheric N deposition. Because domestic and industrial waste is not discharged into the Beidagang Wetland Nature Reserve, trace metals found in sediments mainly originate from atmospheric deposition. The results provide baseline data for analysis of trace metal accumulation in Beijing-Tianjin-Hebei, a region subject to atmospheric deposition in northern China. [ABSTRACT FROM AUTHOR]

In this paper, a class of nonlinear p-Laplace diffusion BAM Cohen-Grossberg neural networks (BAM CGNNs) with time delays is investigated. In the case of p>1 with p≠2, the authors construct novel Lyapunov functional to overcome the mathematical difficulties of nonlinear p-Laplace diffusion time-delay model with parameter uncertainties, deriving the LMI-based robust stability criterion applicable to computer MATLAB LMI toolbox and deleting the boundedness of the amplification functions. And in the case of p=2, LMI-based sufficient conditions are also inferred for robust input-to-state stability of reaction-diffusion Markovian jumping BAM CGNNs with the event-triggered control, which is different from those of many previous related literature. In particular, the role of diffusion can be reflected in newly acquired criteria. Finally, numerical examples verify the effectiveness of the proposed methods. [ABSTRACT FROM AUTHOR]

A tide gate was built in 2010 to prevent seawater from moving upstream into the Yongdingxin River estuary in Bohai Bay, Northern China. We analysed the concentrations of Hg, Cd, Pb, TOC, TN, δ 13 C and δ 15 N and studied their variations in the surface layer and vertical profiles of sediment cores collected from the Yongdingxin River estuary. Contamination factors and geo-accumulation indices were calculated for each metal, which revealed high levels of contamination for Hg and Cd in the sediments, likely from anthropogenic sources. δ 13 C and δ 15 N were used as natural tracers to determine the sources of TOC and TN. The results revealed that sewage was the main source of TOC, while TN may have more than one source in the Yongdingxin River estuary. Sewage dominated trace metal pollution in the Yongdingxin River estuary. Our results provide a baseline for trace metal contamination in an estuary facing a large water project. [ABSTRACT FROM AUTHOR]

Highlights: [•] Heavy metals were analysed in nine estuaries along the coast of Bohai Bay. [•] Strong correlations were found between higher Hg and organic matter and nutrients. [•] Cd exposure was rather low in all of the nine selected estuaries. [•] High mobility of Cd explained its spatial variations in sediments between rivers and estuaries. [ABSTRACT FROM AUTHOR]

Abstract: The polysaccharides extracted by hot water and precipitated by 50% ethanol from the fruiting bodies of cultured Cordyceps militaris (W-CBP50) were introduced. Antioxidant activities of W-CBP50, W-CBP50 I (obtained from W-CBP50 purified by Sephadex G-100 chromatography) and W-CBP50 II (obtained from W-CBP50I purified by Sephadex G-200 chromatography) were evaluated and structural features of W-CBP50 II were analyzed. The polysaccharide W-CBP50 II was able to scavenge the stable free radical 1,1-diphenyl-2-picrylhyrazyl (DPPH), while W-CBP50 and W-CBP50I could scavenge DPPH, hydroxyl and superoxide radical. Structural characteristics of W-CBP50 II were investigated using GPC, GC–MS, 1H NMR and IR. The results showed that it was mainly composed of α-glucose, α-mannose, α-galactose and α-arabinose with α-type glycosidic linkage and the molecular weight of its main component was 8.97kD. [Copyright &y& Elsevier]

Samples of class F coal fly ash (levels I, II, and III), slag, coal, atmospheric deposition, and soils collected from Tianjin, China, were analyzed using U.S. Environmental Protection Agency (U.S. EPA) Method 3052 and a sequential extraction procedure, to investigate the pollution status and mobility of Hg. The results showed that total mercury (HgT) concentrations were higher in level I fly ash (0.304 µg/g) than in level II and level III fly ash and slag (0.142, 0.147, and 0.052 µg/g, respectively). Total Hg in the atmospheric deposition was higher during the heating season (0.264 µg/g) than the nonheating season (0.135 µg/g). Total Hg contents were higher in suburban area soils than in rural and agricultural areas. High HgT concentrations in suburban area soils may be a result of the deposition of Hg associated with particles emitted from coal-fired power plants. Mercury in fly ash primarily existed as elemental Hg, which accounted for 90.1, 85.3, and 90.6% of HgT in levels I, II, and III fly ash, respectively. Mercury in the deposition existed primarily as sulfide Hg, which accounted for 73.8% (heating season) and 74.1% (nonheating season) of HgT. However, Hg in soils existed primarily as sulfide Hg, organo-chelated Hg and elemental Hg, which accounted for 37.8 to 50.0%, 31.7 to 41.8%, and 13.0 to 23.9% of HgT, respectively. The percentage of elemental Hg in HgT occurred in the order fly ash > atmospheric deposition > soils, whereas organo-chelated Hg and sulfide Hg occurred in the opposite order. The present approach can provide a window for understanding and tracing the source of Hg in the environment in Tianjin and the risk associated with Hg bioaccessibility. Environ. Toxicol. Chem. 2011;30:1997-2003. © 2011 SETAC [ABSTRACT FROM AUTHOR]

Surface soil samples were collected from 52 sites around Guanting Reservoir in Beijing, China, and contents of ‘total’ metals (Cu, Zn, Pb, Cd, As, Ni and Cr) were determined. The results indicate that the degree of heavy metal pollution in the soils declines in the order of Cd>Cr>Zn>As>Cu>Ni>Pb. Based on the results of a combination of multivariate statistics and geostatiscal analyses, it was concluded that land application of phosphate fertilizer, wastewater and sludge were the primary sources of Cd and Zn in soils. Whereas As, Cu, Cr and Ni in some soils were due to natural rock weathering. The sources of Pb in soils only partially originated from land application of phosphate fertilizer, but mainly from vehicle exhaust. The greatest concentrations of all metals, except for Pb, were found in Huailai County and the towns of Yanghedaqiao and Guanting. [Copyright &y& Elsevier]

Qompsell are extracts of several traditional Chinese medicines: Astragalus membranaceus, Portulaca oleracea L, Flavescent sophora and Andrographis paniculata, etc. The macrophage phagocytic activity, macrophage ROS (reactive oxygen species), activity of serum lysozyme, SOD (superoxide dismutase), NOS (nitric oxide synthetase) and levels of total serum protein, globulin, and albumin were measured in carp that had been fed diets containing Qompsell at 0.3 g kg−1 for 60 days. The results showed that Qompsell had increased the macrophage phagocytic activity, macrophage ROS and the content of total protein, globulin, lysozyme in serum significantly ( P<0.05). Also, the triglyceride and cholesterol levels had slightly increased but there was no significant difference. However, NOS, SOD and albumin showed no significant difference ( P>0.05). These results indicate that the Qompsell formula might elevate the immunity function of carp ( Cyprinus carpio). [ABSTRACT FROM AUTHOR]

Abstract: Huntington's disease results from expansion of the polyglutamine (PolyQ) domain in the huntingtin protein. Although the cellular mechanism by which pathologic-length PolyQ protein causes neurodegeneration is unclear, mitochondria appear central in pathogenesis. We demonstrate in isolated mitochondria that pathologic-length PolyQ protein directly inhibits ADP-dependent (state 3) mitochondrial respiration. Inhibition of mitochondrial respiration by PolyQ protein is not due to reduction in the activities of electron transport chain complexes, mitochondrial ATP synthase, or the adenine nucleotide translocase. We show that pathologic-length PolyQ protein increases the production of reactive oxygen species in isolated mitochondria. Impairment of state 3 mitochondrial respiration by PolyQ protein is reversed by addition of the antioxidants N-acetyl-l-cysteine or cytochrome c. We propose a model in which pathologic-length PolyQ protein directly inhibits mitochondrial function by inducing oxidative stress. [Copyright &y& Elsevier]

Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was reported as a cause of glomerular pathologies without extra-renal manifestations, otherwise known as nail patella-like renal disease (NPLRD). We have identified two additional NPLRD families with the R246Q mutation, though the mechanisms by which LMX1BR246Q causes a renal-specific phenotype is unknown. In this study, using human podocyte cell lines overexpressing either myc-LMX1BWT or myc-LMX1BR246Q, we observed dominant negative and haploinsufficiency effects of the mutation on the expression of podocyte genes such as NPHS1, GLEPP1, and WT1. Specifically, we observed a novel LMX1BR246Q-mediated downregulation of WT1(−KTS) isoforms in podocytes. In conclusion, we have shown that the renal-specific phenotype associated with the LMX1BR246Q mutation may be due to a dominant negative effect on WT1(−KTS) isoforms that may cause a disruption of the WT1 (−KTS):(+KTS) isoform ratio and a decrease in the expression of podocyte genes. Full delineation of the LMX1B gene regulon is needed to define its role in maintenance of glomerular filtration barrier integrity. [ABSTRACT FROM AUTHOR]

Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes, including inherited genetic defects, with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome (AS), thin basement membrane nephropathy, and to result in pathognomonic glomerular basement membrane (GBM) findings. Secondary FSGS is known to develop in classic AS at later stages of the disease. Here, we present seven families with rare or novel variants in COL4A3 or COL4A4 (six with single and one with two heterozygous variants) from a cohort of 70 families with a diagnosis of hereditary FSGS. The predominant clinical finding at diagnosis was proteinuria associated with hematuria. In all seven families, there were individuals with nephrotic-range proteinuria with histologic features of FSGS by light microscopy. In one family, electron microscopy showed thin GBM, but four other families had variable findings inconsistent with classical Alport nephritis. There was no recurrence of disease after kidney transplantation. Families with COL4A3 and COL4A4 variants that segregated with disease represent 10% of our cohort. Thus, COL4A3 and COL4A4 variants should be considered in the interpretation of next-generation sequencing data from such patients. Furthermore, this study illustrates the power of molecular genetic diagnostics in the clarification of renal phenotypes. [ABSTRACT FROM AUTHOR]

Focal and segmental glomerulosclerosis (FSGS) is a major cause of end-stage kidney disease. Recent advances in molecular genetics show that defects in the podocyte play a major role in its pathogenesis and mutations in inverted formin 2 (INF2) cause autosomal dominant FSGS. In order to delineate the role of INF2 mutations in familial and sporadic FSGS, we sought to identify variants in a large cohort of patients with FSGS. A secondary objective was to define an approach for genetic screening in families with autosomal dominant disease. A total of 248 individuals were identified with FSGS, of whom 31 had idiopathic disease. The remaining patients clustered into 64 families encompassing 15 from autosomal recessive and 49 from autosomal dominant kindreds. There were missense mutations in 8 of the 49 families with autosomal dominant disease. Three of the detected variants were novel and all mutations were confined to exon 4 of INF2, a regulatory region responsible for 90% of all changes reported in FSGS due to INF2 mutations. Thus, in our series, INF2 mutations were responsible for 16% of all cases of autosomal dominant FSGS, with these mutations clustered in exon 4. Hence, screening for these mutations may represent a rapid, non-invasive and cost-effective method for the diagnosis of autosomal dominant FSGS. [ABSTRACT FROM AUTHOR]

Pentachlorophenol (PCP) concentrations were determined in 55 samples of fish, shrimp, crabs, frogs and turtles collected in Jiangsu Province and 55 freshwater shrimp samples collected from the Huiming Fish Market, Nanjing, China between 2003 and 2004. PCP concentrations ranged from less than the method detection limit (MDL: 0.5μg/kgww) to 61μg/kgww, with a mean of 5.2μg/kgww in 55 samples collected across Jiangsu Province and a mean of 0.5μg/kgww for freshwater shrimp collected from the Huiming Fish Market. Concentrations of PCP in common carp (Carassius auratus) were significantly greater than concentrations of PCP in other species from all of the areas studied. Grass carp (Ctenopharyngodon idella) contained the second greatest concentrations and crustacean species contained the least concentrations. Concentrations of PCP were greater in samples collected from Southern Jiangsu than those collected from other areas of Jiangsu Province. Concentrations of PCP in the freshwater shrimp (Macrobrachium nipponense) from the Huiming Fish Market were greater in March and September than those collected in June and December. Based on the allowable daily intake (ADI) set by the US National Academy of Science, current concentrations of PCP measured in aquatic products from Jiangsu Province presented minimus health risks to humans. [Copyright &y& Elsevier]