Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).

Congenital Anomalies of Kidney and Urinary Tract (CAKUT) can occur in isolation or in conjunction with one or more non-CAKUT associated congenital anomalies or neurodevelopmental disorders (CAKUT+). A molecular cause is not identified in most individuals with CAKUT+. This is due, in part, to uncertainty regarding the efficacy of genetic testing and an incomplete understanding of the genes that cause CAKUT+.

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect (CHD). TOF may present in isolation or in conjunction with one or more non-cardiac congenital anomalies or neurodevelopmental disorders (TOF+). Uncertainty regarding the efficacy of various genetic testing strategies, and an incomplete understanding of the genetic causes of TOF+, may lead to hesitancy in recommending genetic testing, particularly, clinical exome sequencing (cES).

Complex Medium-Chain Triglycerides Mitigate Porcine Epidemic Diarrhea Virus Infection in Piglets by Enhancing Anti-Inflammation, Antioxidation, and Intestinal Barrier Function.

Porcine epidemic diarrhea (PED), a highly contagious enteric disease caused by the porcine epidemic diarrhea virus (PEDV), is characterized by vomiting, diarrhea, and dehydration, leading to high mortality in newborn piglets and significant economic losses in the swine industry. The shortage of effective PED vaccines emphasizes the need to explore potent natural compounds for therapeutic intervention. It has been shown that glycerol monolaurate (GML) effectively inhibits PEDV replication in vivo and in vitro.

Distributions of parvalbumin, calbindin-D28k, and calretinin in the cerebrum of Chinese tree shrews ( ): A high-resolution neuroanatomical resource.

The Chinese tree shrew has gained prominence as a model organism due to its phylogenetic proximity to primates, offering distinct advantages over traditional rodent models in biomedical research. However, the neuroanatomy of this species remains insufficiently defined, limiting its utility in neurophysiological and neuropathological studies. In this study, immunofluorescence microscopy was employed to comprehensively map the distribution of three calcium-binding proteins, parvalbumin, calbindin D-28k, and calretinin, across the tree shrew cerebrum.

Prevalence and Characterization of and Methicillin-Resistant from Different Retail Raw Meats in Shandong, China.

is an important cause of food intoxication, which has the potential to induce diverse infections, toxinoses and life-threatening diseases among humans and animals. This study investigated the prevalence, antimicrobial resistance, and genetic diversity of and methicillin-resistant (MRSA) in retail raw meat from Shandong (March 2021-October 2022). The distribution of virulence genes, antimicrobial susceptibility, and genetic diversity of these isolates were analyzed.

Novel receptor-binding protein from phage PJNS004 for sensitive detection of Salmonella.

The detection of Salmonella, a key foodborne pathogen, is essential for maintaining food safety and safeguarding public health. Here, we have identified a novel receptor-binding protein (RBP), encoded by ORF33 of phage PJNS004, that specifically targets lipopolysaccharide on the host strain surface. To utilize this RBP for Salmonella detection, we expressed and purified the recombinant protein, designated as proSM and proM.

Self-Pollinated Types and Ecological Adaptations of the Desert Plant .

In desert plants, outcrossing is frequently limited by pollinator scarcity, leading to a certain percentage of self-fertilization. However, research on the ecological adaptations of self-fertilized seeds remains limited. Maxim, a Tertiary relict plant in the arid deserts of Northwest China, exhibits pronounced self-pollination.

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

8q21.11 microdeletions involving ZFHX4 have previously been associated with a syndromic form of intellectual disability, hypotonia, unstable gait, and hearing loss. We report on 63 individuals-57 probands and 6 affected family members-with protein-truncating variants (n = 41), (micro)deletions (n = 21), or an inversion (n = 1) affecting ZFHX4.

Benzoic acid as a dietary supplement mitigates inflammation and intestinal injury in acute enterotoxigenic -infected mice without adverse effects in healthy mice.

Benzoic acid is a naturally occurring compound found in fruits and is also commercially synthesized as an additive in the food, feed, and pharmaceutical industries. This study investigated the effects of benzoic acid as a dietary supplement on inflammation and intestinal injury in acute (ETEC)-infected or healthy mice. Thirty-six BALB/c mice were divided into three groups, with 12 mice in each group for a 16-day feeding trial.

SYNTAXIN OF PLANTS 81 regulates fatty acid desaturation by mediating Acyl Carrier Protein Desaturase 5 during seed development in Arabidopsis thaliana.

Lipids are essential for building cells and are used as important seed reserves. Fatty acids (FAs) are the key structural units of lipids, forming their hydrophobic tails in triglycerides and phospholipids. FA synthesis starts in plastids and is completed in the endoplasmic reticulum (ER).

Tissue-Specific Effects of the DNA Helicase FANCJ/BRIP1/BACH1 on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders.

Fragile X-related disorders (FXDs) are caused by the expansion of a CGG repeat tract in the 5'-UTR of the gene. The expansion mechanism is likely shared with the 45+ other human diseases resulting from repeat expansion, a process that has been shown to require key mismatch repair (MMR) factors. FANCJ, a DNA helicase involved in unwinding unusual DNA secondary structures, has been implicated in a number of DNA repair processes including MMR.

The impact of digital village construction on poverty vulnerability among rural households.

Against the backdrop of consolidating the achievements of poverty alleviation and promoting rural revitalization, whether digital village construction can alleviate the risk of rural families returning to poverty and then help long-term poverty prevention needs systematic and scientific empirical investigation. Using data from the 2020 China Rural Revitalization Survey (CRRS), this paper analyzes the impact of digital village construction on rural household poverty vulnerability and explores its potential channels. The results show that (1) digital village construction can significantly alleviate the poverty vulnerability of rural households.

Refining the interpretation of variants of uncertain significance in hereditary cancer screening through integrated RNA sequencing.

Purpose: Although up to 25% of germline variants are predicted to affect splicing, most are classified as variants of uncertain significance (VUS) because of the limited understanding of their functional consequences. Here, we investigated the impact of RNA sequencing (RNA-seq) data on the ability to resolve splicing-related VUS.

Methods: Patients with VUS predicted to alter splicing identified through commercial hereditary cancer testing between October 2021 to July 2023 were included.

Polyphenol-mediated assembly of toll-like receptor 7/8 agonist nanoparticles for effective tumor immunotherapy.

Toll-like receptor (TLR) 7/8 agonists have shown significant potential in tumor immunotherapy. However, the limited pharmacokinetic properties and systemic toxicity resulting from off-target effects limits their biomedical applications. We here report the polyphenol-mediated assembly of resiquimod (R848, a TLR7/8 agonist) nanoparticles (RTP NPs) to achieve tumor-selective immunotherapy while avoiding systemic adverse effects.

Prevalence and molecular characterization of human bocavirus-1 in children and adults with influenza-like illness from Kunming, Southwest China.

Human bocavirus-1 (HBoV-1) has been associated with respiratory infections in both children and adults, often presenting symptoms similar to those of influenza. Understanding the prevalence and molecular characteristics of HBoV-1 in individuals with influenza-like illness (ILI) is essential for enhancing the diagnosis and treatment of respiratory infections in Kunming, Southwest China. Between December 2017 and December 2023, demographic and clinical data, along with respiratory tract specimens from individuals aged 0 to 97 years with ILI, were collected at three sentinel hospitals in Kunming.

Intracellular osteopontin potentiates the immunosuppressive activity of mesenchymal stromal cells.

Introduction: Mesenchymal stromal cell (MSC)-based cell therapy is a promising approach for various inflammatory disorders based on their immunosuppressive capacity. Osteopontin (OPN) regulates several cellular functions including tissue repair, bone metabolism and immune reaction. However, the biological function of OPN in regulating the immunosuppressive capacity of MSCs remains elusive.

Effect of coated-benzoic acid on growth performance, immunity, and intestinal functions in weaned pigs challenged by enterotoxigenic .

Introduction: Benzoic acid (BA) could be added to the diets of weaned pigs to prevent diarrhea due to its antibacterial function. However, BA may be absorbed or decomposed before it can reach the hindgut. This study was conducted to explore the effect of a novel coated benzoic acid (CBA) on growth performance, immunity, and intestinal barrier functions in weaned pigs upon enterotoxigenic (ETEC) challenge.

Protective Effect of Coated Benzoic Acid on Intestinal Epithelium in Weaned Pigs upon Enterotoxigenic Challenge.

The study was designed to investigate the protective effect of dietary supplementation with coated benzoic acid (CBA) on intestinal barrier function in weaned pigs challenged with enterotoxigenic (ETEC). Thirty-two pigs were randomized to four treatments and given either a basal diet or a basal diet supplemented with 3.0 g/kg CBA, followed by oral administration of ETEC or culture medium.

Reconciling the effects of PMS2 in different repeat expansion disease models supports a common therapeutic strategy.

Expansion of a disease-specific tandem repeat is responsible for >45 Repeat Expansion Diseases (REDs). The expansion mutation in each of these diseases has different pathological consequences and most are currently incurable. If the underlying mechanism of mutation is shared, a strategy that slows repeat expansion in one RED may be applicable to multiple REDs.

Development of the CRISPR-Cas12a system for editing of phages.

is a common opportunistic pathogen. The potential efficacy of phage therapy has attracted the attention of researchers, but efficient gene-editing tools are lacking, limiting the study of their biological properties. Here, we designed a type V CRISPR-Cas12a system for the gene editing of phages.

Characterization, genome analysis, and therapeutic evaluation of a novel Salmonella phage vB_SalS_JNS02: a candidate bacteriophage for phage therapy.

Phage therapy is gaining momentum as an alternative to antibiotics in the treatment of salmonellosis caused by Salmonella. In this study, a novel Salmonella phage, vB_SalS_JNS02, was isolated successfully from poultry farms in Shandong, China. The biological characteristics of vB_SalS_JNS02 were analysed, which revealed a short latent period of approximately 10 min and a burst size of 110 PFU/cell.

Deficiency of UCHL1 results in insufficient decidualization accompanied by impaired dNK modulation and eventually miscarriage.

Background: Miscarriage is a frustrating complication of pregnancy that is common among women of reproductive age. Insufficient decidualization which not only impairs embryo implantation but disturbs fetomaternal immune-tolerance, has been widely regarded as a major cause of miscarriage; however, the underlying mechanisms resulting in decidual impairment are largely unknown.

Methods: With informed consent, decidual tissue from patients with spontaneous abortion or normal pregnant women was collected to detect the expression profile of UCHL1.

Antimicrobial Resistance and Molecular Characterization of from Healthy Chickens in Shandong, China from 2009 to 2014.

Antimicrobial resistance (AMR) is a great threat to animal and public health. Here, we conducted a surveillance of isolated from healthy chickens during 2009-2014 to identify the characteristics of AMR. A total of 351 (95.