Identification of novel germline mutations in FUT7 and EXT1 linked with hereditary multiple exostoses.

Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder primarily linked with mutations in Exostosin-1 (EXT1) and Exostosin-2 (EXT2) genes. However, not all HME cases can be explained by these mutations, and its pathogenic mechanisms are not fully understood. Herein, utilizing whole-exome sequencing and genetic screening with a family trio design, we identify two novel rare mutations co-segregating with HME in a Chinese family, including a nonsense mutation (c.

Outgrowth of Escherichia is susceptible to aggravation of systemic lupus erythematosus.

Background: Systemic lupus erythematosus (SLE) is linked to host gut dysbiosis. Here we performed faecal gut microbiome sequencing to investigate SLE-pathogenic gut microbes and their potential mechanisms.

Methods: There were 134 healthy controls (HCs) and 114 SLE cases for 16 S ribosomal RNA (rRNA) sequencing and 97 HCs and 124 SLE cases for shotgun metagenomics.

MCM8-mediated mitophagy protects vascular health in response to nitric oxide signaling in a mouse model of Kawasaki disease.

Mitophagy is a major quality control pathway that removes unwanted or dysfunctional mitochondria and plays an essential role in vascular health. Here we show that MCM8 expression is significantly decreased in children with Kawasaki disease (KD) who developed coronary artery aneurysms. Mechanistically, we discovered that nitric oxide signaling promotes TRIM21-mediated MCM8 ubiquitination, which disrupts its interaction with MCM9 and promotes its cytosolic export.

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.

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.

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.

Single cell RNA-sequencing analysis reveals that -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 -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.

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.

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.

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.

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 (CO) emissions is also accumulating, which generates the negative impact of global warming on nature and human beings. Meanwhile, economy and CO emissions prediction methods based on traditional neural networks lead to gradient disappearance or gradient explosion, making the economy and CO emissions prediction inaccurate.

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.

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.

Association between 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.

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. is a gene that encodes a protein, which catalyzes the synthesis of quinolinic acid, and has been identified as a risk gene for hypospadias.

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.

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.

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.

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.

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.

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 H production rate and cumulative H production improved after addition oyster shells.

Increased hypospadias risk by 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, 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.

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.

Identification of the distinct genomic features in gastroesophageal junction adenocarcinoma and its Siewert subtypes.

Rates of gastroesophageal junction adenocarcinomas (GEJAs) have shown an alarming increase; however, the genetic background of GEJA and its Siewert classification have yet to be uncovered. Here, 60 paired tumor and normal DNA samples from GEJA patients were analyzed by whole-exome sequencing. Among them, 13 were Siewert type I, 14 were type II, and 33 were type III.

Carbon migration and metagenomic characteristics during anaerobic digestion of rice straw.

Background: Considerable interest has been expressed in the development of anaerobic digestion (AD) of straw to solve the environmental problems caused by the dumping and burning of straw and to generate clean energy. However, the poor biodegradability of straw and the low efficiency of energy generation achieved during its AD are problematic. Studying the parameter changes involved in the process of AD is helpful for clarifying its micro-mechanisms and providing a theoretical basis for improving its efficiency.