Association between CACNA1D polymorphisms and hypospadias in a southern Chinese population.

BACKGROUND: Hypospadias is a congenital genitourinary malformation, with the etiology remaining complex and poorly understood. Despite several genes have been identified to be associated with the risk of hypospadias, current understanding of the susceptibility loci for hypospadias yet remained largely improved. The CACNA1D gene encodes calcium voltage-gated channel subunit alpha 1d and may be involved in androgen signaling. However, the genetic susceptibility of CACNA1D associated with hypospadias has yet been addressed. OBJECTIVE: To evaluate the association between CACNA1D polymorphisms and the susceptibility to hypospadias. METHODS: In this study, we accessed the association between two potential regulatory SNPs (rs3774491 and rs898415) within CACNA1D and hypospadias in a cohort of southern Chinese population which comprised of 740 cases and 948 healthy individuals. Both SNP and haplotypic associations were evaluated. Bioinformatic analysis of the regulatory abilities of the CACNA1D SNPs were carried out by utilizing public ChIP-seq and DNase-seq data. The expression of Cacna1d in mouse external genitalia and testis was evaluated by qPCR. RESULTS: We found that the allele C in rs3774491 and allele G in rs898415 were significantly associated with an increased risk of hypospadias, especially for proximal hypospadias. Further model-based genotypic analyses showed that these association were prominent in additive model and recessive models. Bioinformatic analyses indicated that both SNPs were colocalized with DNase and multiple histone marker across multiple tissues, suggesting the regulatory potentials for these variants. Cacna1d is detectable in both testis and external genitalia of mouse, but the expression level was more prominent in testis than that in external genitalia, suggesting tissue-specific differences in its expression. CONCLUSION: Our findings provide evidence for CACNA1D as a novel predisposing gene for hypospadias, shedding new light on the genetic basis of malformation of urinary tract. Further investigations are warranted to elucidate the functional implication of CACNA1D underlying the development of hypospadias. LEVEL OF EVIDENCE: N/A.

Associations of MMP9 polymorphism with the risk of severe pneumonia in a Southern Chinese children population.

BACKGROUND: Severe pneumonia frequently causes irreversible sequelae and represents a major health burden for children under the age of 5. Matrix Metallopeptidase 9 (MMP9) is a zinc-dependent endopeptidase that is involved in various cellular processes. The correlation between MMP9 and the risk of severe childhood pneumonia remains unclear. METHODS: Here we assemble a case-control cohort to study the association of genetic variants in MMP9 gene with severe childhood pneumonia susceptibility in a Southern Chinese population (1034 cases and 8426 controls). RESULTS: Our results indicate that the allele G in rs3918262 SNP was significantly associated with an increased risk of severe pneumonia. Bioinformatic analyses by expression quantitative trait loci (eQTL), RegulomeDB and FORGEdb database analysis showed that rs3918262 SNP has potential regulatory effect on translational efficiency and protein level of MMP9 gene. Furthermore, MMP9 concentrations were significantly up-regulated in the bronchoalveolar lavages (BALs) of children with severe pneumonia. CONCLUSION: In summary, our findings suggest that MMP9 is a novel predisposing gene for childhood pneumonia.

Adding Granular Activated Carbon and Zerovalent Iron to the High-Solid Anaerobic Digestion System of the Organic Fraction of Municipal Solid Waste: Anaerobic Digestion Performance and Microbial Community Analysis.

Anaerobic digestion (AD) performance and microbial dynamics were investigated in a high-solid anaerobic digestion (HSAD) system of the organic fraction of municipal solid waste (OFMSW). 1, 5, 10, and 15% (w/w, dry weight of the OFMSW) of granular activated carbon (GAC) and zerovalent iron (ZVI) were added to the HSAD system. The results showed that adding ZVI and GAC can improve the methane yield of the OFMSW. Notably, R-(GAC + ZVI) exhibited the highest cumulative methane yield of 343.0 mL/gVS, which was 57.1% higher than that of the R-control. At the genus level, the dominant bacteria included norank_f__norank_o__MBA03, norank_f__norank_o__norank_c__norank_p__Firmicutes, Fastidiosipila, norank_f__Rikenellaceae, and Sphaerochaeta, while Methanoculleus, Methanobacterium, and Methanosarcina were the dominant archaea. The highest relative abundance of norank_f__norank_o__norank_c__norank_p__Firmicutes was 30.8% for the R-(GAC + ZVI), which was 71.4% higher than that of the R-control. The relative abundance of Methanoculleus and Methanobacterium for the R-(GAC + ZVI) and the R-control group accounted for 79.0 and 90.8% of the total archaeal abundance, respectively. Additionally, the relative abundance of Methanosarcina was 10.6% for R-(GAC + ZVI), which was higher than that of the R-control (1.1%). After the addition of GAC and ZVI, the electron transfer capacity of the HSAD system was enhanced, resulting in promoted methane production. Thus, the simultaneous addition of GAC and ZVI to the HSAD system can be an effective strategy to promote the cumulative methane yield of the OFMSW.

Single cell RNA-sequencing analysis reveals that N-acetylcysteine partially reverses hepatic immune dysfunction in biliary atresia.

Background & Aims: Our previous study indicated that CD177+ neutrophil activation has a vital role in the pathogenesis of biliary atresia (BA), which is partially ameliorated by N-acetylcysteine (NAC) treatment. Here, we evaluated the clinical efficacy of NAC treatment and profiled liver-resident immune cells via single cell RNA-sequencing (scRNA-seq) analysis to provide a comprehensive immune landscape of NAC-derived immune regulation. Methods: A pilot clinical study was conducted to evaluate the potential effects of intravenous NAC treatment on infants with BA, and a 3-month follow-up was carried out to assess treatment efficacy. scRNA-seq analysis of liver CD45+ immune cells in the control (n = 4), BA (n = 6), and BA + NAC (n = 6) groups was performed and the effects on innate cells, including neutrophil and monocyte-macrophage subsets, and lymphoid cells were evaluated. Results: Intravenous NAC treatment demonstrated beneficial efficacy for infants with BA by improving bilirubin metabolism and bile acid flow. Two hepatic neutrophil subsets of innate cells were identified by scRNA-seq analysis. NAC treatment suppressed oxidative phosphorylation and reactive oxygen species production in immature neutrophils, which were transcriptionally and functionally similar to CD177+ neutrophils. We also observed the suppression of hepatic monocyte-mediated inflammation, decreased levels of oxidative phosphorylation, and M1 polarisation in Kupffer-like macrophages by NAC. In lymphoid cells, enhancement of humoral immune responses and attenuation of cellular immune responses were observed after NAC treatment. Moreover, cell-cell interaction analysis showed that innate/adaptive proinflammatory responses were downregulated by NAC. Conclusions: Our clinical and scRNA-seq data demonstrated that intravenous NAC treatment partially reversed liver immune dysfunction, alleviated the proinflammatory responses in BA by targeting innate cells, and exhibited beneficial clinical efficacy. Impact and implications: BA is a serious liver disease that affects newborns and has no effective drug treatment. In this study, scRNA-seq showed that NAC treatment can partially reverse the immune dysfunction of neutrophil extracellular trap-releasing CD177+ neutrophils and Kupffer cells, and lower the inflammatory responses of other innate immune cells in BA. In consequence, intravenous NAC treatment improved the clinical outcomes of patients with BA in term of bilirubin metabolism.

Whole-Exome Sequencing for Identification of Potential Sex-Biased Variants in Kawasaki Disease Patients.

Kawasaki disease (KD) is an autoimmune disease of unknown etiology and has become a main cause of childhood acquired heart disease. KD is more prevalent in males than in females. The reason for this sex bias is unknown. Here, we used whole-exome sequencing (WES) to identify significantly different variants between male and female KD patients. From WES result, a total of 19,500 shared genetic variants in 8421 genes were captured via a series of filters. Further comparisons based on sex were performed to obtain 34 potential sex-biased variants in 34 genes for GO and Reactome Gene Sets enrichment analyses. Moreover, we selected 6 variants associated with immune, cells adhesion, platelet function, homeostasis, and ion channel signaling and expanded the sample size (1247 KD patients containing 713 males and 534 females, 803 healthy population containing 481 males and 322 females) for genotyping validation. From the results, USH2A/rs148135241, LMO7/rs142687160, CEMIP/rs12441101, and EFCC1/rs142391828 presented significant differences of alleles/genotypes frequency distributions between male and female only in KD patients (which were consistent with the result of WES analysis) but not in healthy population. In addition, the result also found that only EFCC1/rs142391828 polymorphism was associated with KD susceptibility. This result suggested that those four variants might play critical roles in sex bias in KD. The study would be in favor of a sex-specific genome atlas establishing and novel sex-specific precision therapies development for KD.

Inhibitory Effects of 3-Methylcholanthrene Exposure on Porcine Oocyte Maturation.

3-methylcholanthrene (3-MC) is a highly toxic environmental pollutant that impairs animal health. 3-MC exposure can cause abnormal spermatogenesis and ovarian dysfunction. However, the effects of 3-MC exposure on oocyte maturation and embryo development remain unclear. This study revealed the toxic effects of 3-MC exposure on oocyte maturation and embryo development. 3-MC with different concentrations of 0, 25, 50, and 100 µM was applied for in vitro maturation of porcine oocytes. The results showed that 100 µM 3-MC significantly inhibited cumulus expansion and the first polar body extrusion. The rates of cleavage and blastocyst of embryos derived from 3-MC-exposed oocytes were significantly lower than those in the control group. Additionally, the rates of spindle abnormalities and chromosomal misalignments were higher than those in the control group. Furthermore, 3-MC exposure not only decreased the levels of mitochondria, cortical granules (CGs), and acetylated α-Tubulin, but also increased the levels of reactive oxygen species (ROS), DNA damage, and apoptosis. The expression of cumulus expansion and apoptosis-related genes was abnormal in 3-MC-exposed oocytes. In conclusion, 3-MC exposure disrupted the nuclear and cytoplasmic maturation of porcine oocytes through oxidative stress.

Substance bioconversion, hydrolases activity, and metagenomic analysis to unravel the enhanced biomethanation of corn stover with urea-hydrothermal pretreatment.

Corn stover (CS) is a promising feedstock for producing biomethane, that can replace diminishing fossil fuels. However, the recalcitrant structure of CS resulted in low degradability in anaerobic digestion (AD). Numerous studies investigated the pretreatment of CS before AD, but the insight mechanism of biomethanation enhancement is not fully revealed. Therefore, this study advanced low-temperature urea-hydrothermal pretreatment of CS, and the biomethane production, substance bioconversion, hydrolase activity, and metagenomic analysis were conducted to unravel the intrinsic mechanisms of pretreatment for the enhanced biomethanation. The results showed that the pretreatment improved 11.5% of the specific surface area of CS, providing 111.5% higher total volatile fatty acids and 19.9% higher reducing sugars than the control, potentially enriching more anaerobic microorganisms. As a result, the pretreated CS achieved 19.1% higher biomethane yield, 9.1% higher volatile solid removal rate, and 3 days shorter digestion time. The mass balance and microbial community succession analysis indicated that the pretreatment reinforced the biomethane conversion from carbohydrate, which was attributed to the rapid enrichment of hydrolytic acidification bacteria (g__unclassified_o__Bacteroidales) (33.2%) and mixotrophic archaea (Methanosarcina) (72.3%). Meanwhile, the activity of cellulase and xylanase was enhanced up to 23.7% and 66.7%. Metagenomic analysis revealed that the combined pretreatment of CS promoted methanogenesis by enhancing various CAZymes secretion (such as oligosaccharide-degrading enzymes), and functional genes expression of hydrolytic, acidification and acetate-methane pathways at days 1-5. The study indicated that the combined pretreatment could influence microbial composition and function by changing the physicochemical properties of the CS, thereby improving methanogenic performance.

Novel economy and carbon emissions prediction model of different countries or regions in the world for energy optimization using improved residual neural network.

Nowadays, the world has achieved tremendous economic development at the expense of the long-term habitability of the planet. With the rapid economic development, the global greenhouse effect caused by excessive carbon dioxide (CO2) emissions is also accumulating, which generates the negative impact of global warming on nature and human beings. Meanwhile, economy and CO2 emissions prediction methods based on traditional neural networks lead to gradient disappearance or gradient explosion, making the economy and CO2 emissions prediction inaccurate. Therefore, this paper proposes a novel economy and CO2 emissions prediction model based on a residual neural network (RESNET) to optimize and analyze energy structures of different countries or regions in the world. The skip links are used in the inner residual block of the RESNET to alleviate vanishing gradients due to increasing depth in deep neural networks. Consequently, the proposed RESNET can optimize this problem and protect the integrity of information by directly bypassing the input information to the output, which can increase the precision of the prediction model. The needs for natural gas, hydroelectricity, oil, coal, nuclear energy, and renewable energy in 24 different countries or regions from 2009 to 2020 are used as inputs, the CO2 emissions and the gross domestic product (GDP) per capita are respectively used as the undesired output and the desired output of the RESNET to build an economy and CO2 emissions prediction model. The experimental results show that the RESNET has higher correctness and functionality than the traditional convolutional neural network (CNN), the radial basis function (RBF), the extreme learning machine (ELM) and the back propagation (BP). Furthermore, the proposed model provides guidance and development plans for countries or regions with low energy efficiency, which can improve energy efficiency, economic development and reasonably control CO2 emissions.

Combined modifications of CaO and liquid fraction of digestate for augmenting volatile fatty acids production from rice straw: Microbial and proteomics insights.

The modification sequence of chemical (CaO) and biological (liquid fraction of digestate, LFD) for augmenting volatile fatty acids (VFAs) production from rice straw was investigated in this study. The coupling order of the modifiers influenced acidification performance, and simultaneous modification (CaO-LFD) was superior to other modes. The highest VFAs production was obtained in CaO-LFD, 51% higher than that in the LFD-first additional modification. The CaO-LFD demonstrated the highest selectivity of acetate production, accounting for 79% of the total VFAs. In addition, CaO-LFD modification changed the direction of the domestication of fermentative bacteria and increased populations of the key anaerobes (Atopostipes sp.) responsible for acidification. The synergistic effect of CaO and LFD was revealed, namely, the effective function of CaO in degrading recalcitrant rice straw, the promotion of transport/metabolism of carbohydrates and acetogenesis by LFD.

Association between IKBKAP polymorphisms and Hirschsprung's disease susceptibility in Chinese children.

Background: Hirschsprung's disease (HSCR) is a rare congenital disease in which enteric nervous system (ENS) in the distal intestine is absent. HSCR is a disease involving genetic factors and environmental factors. Despite a series of genes have been revealed to contribute to HSCR, many HSCR associated genes were yet not identified. Previous studies had identified that a potential susceptibility gene of HSCR was an inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP). The study aimed to explore the association of genetic variants in IKBKAP and HSCR susceptibility in southern Chinese children. Methods: Single nucleotide polymorphism (SNPs) were genotyped by the Mass ARRAY iPLEX Gold system (Sequenom, San Diego, CA, USA) on all samples, which included 1,470 HSCR children (cases) and 1,473 healthy children (controls). The associations between SNPs and HSCR or clinical subtypes were assessed by comparing their allele frequencies in corresponding case and control samples. Different genetic models, including additive, recessive, and dominant models, were tested using PLINK 1.9 software. Results: Further subgroup analysis revealed rs2275630 as a total colonic aganglionosis (TCA)-specific susceptibility locus. The present study is the first to indicate that IKBKAP rs2275630 were associated with HSCR susceptibility, especially in TCA patients. Conclusions: We conclude that IKBKAP rs2275630 is a susceptibility gene of HSCR.

Determining Optimal Temperature Combination for Effective Pretreatment and Anaerobic Digestion of Corn Stalk.

Temperature is one of the important factors affecting both chemical pretreatment and anaerobic digestion (AD) process of corn stalk (CS). In this work, the combined ways between pretreatment temperature (40 °C and 60 °C) and AD temperature (35 °C and 55 °C) were selected to investigate the AD performance for sodium hydroxide (NaOH) pretreated CS. Three organic loading rates (OLRs) of 1.6, 1.8 and 2.0 g·L-1·d-1 were studied within 255 days using continuously stirred tank reactors (CSTR). The results revealed that biogas yields of CS after pretreated were higher than that of untreated groups by 36.79-55.93% and 11.49-32.35%, respectively. When the temperature of NaOH pretreatment changed from 40 °C to 60 °C, there was no significant difference in enhancing the methane yields during the three OLRs. The mesophilic AD (MAD) of CS pretreated with 2% NaOH under 40 °C and 60 °C conditions produced 275 and 280 mL·gvs-1 methane yield at OLR of 1.6 g·L-1·d-1. However, as the OLR increased, the methane yield of CS under thermophilic AD (TAD) condition was further higher than under MAD condition. Furthermore, from the perspectives of energy balance and economic analysis, AD of 40 °C-treated CS recovered more energy and TAD is less expensive. Therefore, temperature of 40 °C was considered as an appropriate for pretreatment whether in mesophilic or thermophilic AD system. On the other hand, TAD was chosen as the optimal AD temperatures for higher OLRs.

HAAO rs3816183 Polymorphisms [T] Increase Anterior/Middle Hypospadias Risk in Southern Han Chinese Population.

Hypospadias is one of the most common congenital external genital malformations, which is characterized by abnormal urethral meatus. However, the etiology remains to be incompletely understood. HAAO is a gene that encodes a protein, which catalyzes the synthesis of quinolinic acid, and has been identified as a risk gene for hypospadias. Thus, this study was conducted to elaborate the association between HAAO gene polymorphism rs3816183 T>C and hypospadias in the largest hypospadias cohort from Asia, including 577 patients and 654 healthy controls in China. The strength of interrelation was evaluated using 95% confidence intervals (CIs) and odds ratios (ORs). Based on the stratified analysis of hypospadias subtypes, it was found that the HAAO risk allele rs386183[T] enhances the susceptibility for hypospadias among patients with anterior/middle hypospadias subtypes (adjusted OR = 1.31, 95% CI = 1.05-1.64, p = 0.017). Enhanced risk of hypospadias in the entirety could not be demonstrated (OR = 1.20, 95% CI = 1.00-1.47, p = 0.054). In summary, our study found that the rs3816183[T] polymorphism is associated with increased risk of anterior/middle hypospadias among Southern Han Chinese children. The mechanisms by which the variations in the HAAO gene require further research.

Dysbiosis of Cervical and Vaginal Microbiota Associated With Cervical Intraepithelial Neoplasia.

Cervical intraepithelial neoplasia (CIN) is a precancerous condition inducing local lesions on the surface of the squamocolumnar junction of the cervix. Despite the role of vaginal microbiota having been under-discussed, the role of the cervical microbiome and the microbial migration across the reproductive tract involved in CIN was limitedly studied. We aimed to synchronously characterize the dysbiosis associated with CIN in both the cervix and vagina in a Chinese population. Profiling of cervical and vaginal microbiota from 60 CIN women and 60 healthy women was conducted. 16S rRNA sequencing was adopted. By comparing the microbial profiles between different parts of the reproductive tract, our results demonstrated an increased shift of microbial diversity in the cervix compared with that in the vagina for the CIN patients, specifically in CIN 1. Less dysbiosis was found between the CIN patients and controls, in either the vagina or cervix. The microbial community may be modulated by the onset of sexual activity, a known clinical risk factor for cervical neoplasia. Distinct patterns of perturbated bacteria were found in the vaginal and cervical microbiota, in which reduced Actinobacteria-related operational taxonomic units (OTUs) and increased Proteobacteria-related OTUs were found in the vagina and cervix, respectively. A good agreement between the direction of the top-significant perturbated OTUs was observed between the vaginal and cervical microbiome, suggesting a potential microbial migration in the reproductive tract. Enriched genera such as Sphingomonas and Stenotrophomonas were found in cervical microbiota-associated CIN. Multivariate analysis revealed Comamonas, Rhizobium, and Pseudomonas as independent genera contributing to CIN in the cervix. In summary, this study revealed the perturbation of microbiota in the presence of CIN and demonstrated a distinct pattern of characteristic bacteria community between the vagina and cervix involved in the development of CIN.

Biogas and Volatile Fatty Acid Production During Anaerobic Digestion of Straw, Cellulose, and Hemicellulose with Analysis of Microbial Communities and Functions.

The anaerobic digestion efficiency and methane production of straw was limited by its complex composition and structure. In this study, rice straw (RS), cellulose, and hemicellulose were used as raw materials to study biogas production performance and changes in the volatile fatty acids (VFAs). Further, microbial communities and genetic functions were analyzed separately for each material. The biogas production potential of RS, cellulose, and hemicellulose was different, with cumulative biogas production of 283.75, 412.50, and 620.64 mL/(g·VS), respectively. The methane content of the biogas produced from cellulose and hemicellulose was approximately 10% higher than that produced from RS after the methane content stabilized. The accumulation of VFAs occurred in the early stage of anaerobic digestion in all materials, and the cumulative amount of VFAs in both cellulose and hemicellulose was relatively higher than that in RS, and the accumulation time was 12 and 14 days longer, respectively. When anaerobic digestion progressed to a stable stage, Clostridium was the dominant bacterial genus in all three anaerobic digestion systems, and the abundance of Ruminofilibacter was higher during anaerobic digestion of RS. Genetically, anaerobic digestion of all raw materials proceeded mainly via aceticlastic methanogenesis, with similar functional components. The different performance of anaerobic digestion of RS, cellulose, and hemicellulose mainly comes from the difference of composition of raw materials. Increasing the accessibility of cellulose and hemicellulose in RS feedstock by pretreatment is an effective way to improve the efficiency of anaerobic digestion. Since the similar microbial community structure will be acclimated during anaerobic digestion, there is no need to adjust the initial inoculum when the accessibility of cellulose and hemicellulose changes.

Current development and perspectives of anaerobic bioconversion of crop stalks to Biogas: A review.

As one of the most abundant biomass resources, crop stalks are great potential feedstock available for anaerobic digestion (AD) to produce biogas. However, the specific physical properties and complex chemical structures of crop stalks form strong barriers to efficient AD bioconversion. To overcome these problems, many efforts have been made over the past few years. This paper reviewed recent research in the evolving field of anaerobic bioconversion of crop stalks and was focused on three critical aspects affecting AD performance: various pretreatment methods and their effects on the improvement of crop stalk biodegradability, determination of specific AD operation parameters for crop stalks, and development of AD technologies. Finally, recommendations on the future development of crop stalk AD were proposed.

Associations of CYP2B6 genetic polymorphisms with Hirschsprung's disease in a southern Chinese population.

BACKGROUND: Hirschsprung's disease (HSCR) is an enteric nervous system birth defect partially caused by a genetic disorder. Single-nucleotide polymorphisms (SNPs) of the cytochrome P450 family 2 subfamily B member 6 (CYP2B6) gene are reported to be associated with HSCR. METHODS: We evaluated the association of rs2054675, rs707265, and rs1042389 with HSCR susceptibility in southern Chinese children including 1470 HSCR patients and 1473 controls using the TaqMan SNP Genotyping Assay. RESULTS: rs2054675 C allele and the rs707265 G allele were risk SNPs for total colonic aganglionosis (OR = 1.82, 95% CI 1.29 ~ 2.55, P_adj < 0.001 and OR = 0.68, 95% CI 0.48 ~ 0.97, P_adj = 0.034). These results suggested that CYP2B6 rs2054675 and rs707265 polymorphisms were associated with increased susceptibility to the severe HSCR subtype in southern Chinese children. CONCLUSION: We suggest that CYP2B6 rs2054675 and rs707265 polymorphisms are associated with increased susceptibility to the severe HSCR subtype in southern Chinese children.

Biomethane Yield, Physicochemical Structures, and Microbial Community Characteristics of Corn Stover Pretreated by Urea Combined with Mild Temperature Hydrotherm.

The corn stover (CS)'s compact structure makes it challenging for microorganisms to use in anaerobic digestion (AD). Therefore, improving CS biodegradability has become a key focus in AD studies. Methods are being targeted at the pretreatment of CS, combining advanced urea with mild temperature hydrotherm pretreatment to study its effect on promoting the AD process of CS. The biomethane yield, physicochemical structure, and microbial community characteristics were investigated. CS samples were assigned into groups differed by a range of pretreatment times (from 24 to 96 h) and set at a temperature of 50 °C with a 2% urea addition. Results revealed that the 72-h group obtained the highest biomethane yield of 205 mL/g VS-1, volatile solid (VS) and total solid (TS) removal rates of 69.3% and 47.7%, which were 36.7%, 25.3% and 27.5% higher than those of untreated one, respectively. After conducting several analyses, results confirmed the pretreatment as a method for altering CS microstructures benefits biomethane production. The most resounding differences between pretreated and untreated groups were observed within a microbial community, an integral factor for improved AD performance. This study serves to confirm that this specific pretreatment is an effective method for enhancing biomethane production in CS.

Increased hypospadias risk by GREM1 rs3743104[G] in the southern Han Chinese population.

Hypospadias is a common congenital genitourinary malformation characterized by ventral opening of the urethral meatus. As a member of the bone morphogenic protein antagonist family, GREM1 has been identified as associated with susceptibility to hypospadias in the European population. The present study was designed to elaborate on the mutual relationship between replicated single-nucleotide polymorphisms (SNPs) and hypospadias in Asia's largest case-control study in the Southern Han Chinese population involving 577 patients and 654 controls. Our results demonstrate that the GREM1 risk allele rs3743104[G] markedly increases the risk of mild/moderate and severe hypospadias (P<0.01, 0.28≤OR≤0.66). GTEx expression quantitative trait locus data revealed that the eQTL SNP rs3743104 has more associations of eQTL SNP rs3743104 and GREM1 targets in pituitary tissues. Additionally, Bioinformatics and Luciferase Assays show that miR-182 is identified as a suppressor for GREM1 expression, likely through regulation of its binding affinity to rs3743104 locus. In conclusion, the GREM1 risk allele rs3743104[G] increases hypospadias susceptibility in mild/moderate and severe cases among the southern Han population. rs3743104 regulates GREM1 expression by altering the binding affinity of miR-182 to their locus. Collectively, this study provides new evidence that GREM1 rs3743104 is associated with an increased risk of hypospadias. These findings provide a promising biomarker and merit further exploration.

Oyster shells improve anaerobic dark fermentation performances of food waste: Hydrogen production, acidification performances, and microbial community characteristics.

Anaerobic dark fermentation (DF) performances of food waste (FW) were investigated using oyster shells. The different amount oyster shells(6%-12%(w/w)) were added to the DF system of FW. The result showed that the H2 production rate and cumulative H2 production improved after addition oyster shells. The highest H2 production rate and cumulative H2 production of 8% oyster shells addition group were 8.4 mL/(gVS·h) and 88.2 mL/gVS, which were 11.7%-30.6% and 17.4%-52.9% higher than those of the other test groups. TVFAs production, especially acetic and butyric acids improved after addition oyster shells. The highest TVFAs production was 19291.4 mg/L for 8% oyster shells added group, which was 90.24% higher than that of the unadded group. For 8% oyster shells added group, Lactobacillales, Gallicola, and Bacteroides were the dominant species at genus levels. Thus, the addition of an appropriate amount oyster shells could improve H2 production rate, cumulative H2 production, promote buffering capacity, enhance TVFAs production.

Microbial cell-free DNA in plasma of patients with sepsis: a potential diagnostic methodology.

Sepsis is a life-threatening clinical condition demanding accurate and rapid diagnosis of the culprit pathogen, thereby to improve prognosis. Pathogen determination through blood culture is the gold standard for diagnosis but has limitations due to low sensitivity. Recently, circulating DNAs derived from pathogenic organisms were found in the plasma of patients with sepsis and were further proved to be more sensitive biomarkers for the diagnosis of the pathogen origin in sepsis. However, the fundamental molecular characteristics of circulating DNA in patients with sepsis remain unclear. Here, we used specific PCR and Sanger sequencing to verify the microbiology culture results via the corresponding plasma circulating DNA. We analyzed the composition and molecular characteristics of circulating DNA in septic patients using next-generation sequencing technology. We showed the presence of pathogen-derived circulating DNA in the plasma of patients with sepsis. The sizes of circulating DNA fragments derived from pathogenic bacteria showed a skewed unimodal distribution, while those derived from host cells showed a normal unimodal distribution. Lengths of fragments at peak concentration for both origins ranged from 150 bp to 200 bp, and reads mapping to pathogenic bacteria genome distributed uniformly on the reference. Our findings have improved our understanding of microbial circulating DNA in patients with sepsis as a potential methodology for the accurate diagnosis of sepsis, especially in light of an urgent need for such a diagnosis associated with the COVID-19 infection.