The rs1800012 polymorphism is associated with osteoporosis or fracture risk: a meta-analysis of 30 studies.

Objectives: Osteoporosis is a complex disease that is influenced by several genetic markers. Many studies have examined the link between the gene rs1800012 polymorphism and osteoporosis risk. However, the findings of these studies are contradictory.

An implantable system for opioid safety.

Naloxone can effectively rescue victims from opioid overdose, but less than 5% survive due to delayed or absent first responder intervention. Current overdose reversal systems face key limitations, including low user adherence, false positive detection, and slow antidote delivery. Here, we describe a subcutaneously implanted robotic first responder to overcome these challenges.

Concentration-Bias-Free Discrimination of Single Nucleotide Variants Using Isothermal Nucleic Acid Amplification and Mismatch-Guided DNA Assembly.

Isothermal nucleic acid amplification techniques are promising alternatives to polymerase chain reaction (PCR) for amplifying and detecting nucleic acids under resource-limited conditions. While many isothermal amplification strategies, such as recombinase polymerase amplification (RPA), offer comparable sensitivity to PCR, they often lack the specificity and robustness for discriminating single nucleotide variants (SNVs), mainly due to the uncontrolled production of massive amplicons. Herein, we introduce a mismatch-guided DNA assembly (MGDA) approach capable of discriminating SNVs in the presence of high concentrations of wild-type (WT) interferences.

A Global Collaborative Comparison of SARS-CoV-2 Antigenicity Across 15 Laboratories.

Setting up a global SARS-CoV-2 surveillance system requires an understanding of how virus isolation and propagation practices, use of animal or human sera, and different neutralisation assay platforms influence assessment of SARS-CoV-2 antigenicity. In this study, with the contribution of 15 independent laboratories across all WHO regions, we carried out a controlled analysis of neutralisation assay platforms using the first WHO International Standard for antibodies to SARS-CoV-2 variants of concern (source: NIBSC). Live virus isolates (source: WHO BioHub or individual labs) or spike plasmids (individual labs) for pseudovirus production were used to perform neutralisation assays using the same serum panels.

An isolated 17,20-lyase deficiency patient achieved a successful live birth after in vitro fertilization: a case report and narrative review.

Purpose: This study aimed to investigate the genetic etiology in an infertile patient presenting with consistently elevated progesterone levels.

Methods: Genomic DNA was extracted from the patient's blood sample and subjected to whole-genome sequencing (NGS) using the Illumina NovaSeq platform. Bioinformatic analyses were conducted to identify single nucleotide variants (SNVs) and insertion-deletion mutations (Indels) potentially associated with the patient's clinical phenotype.

A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient.

Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a group of extremely rare autosomal recessive neurological disorders characterized by predominant sensory dysfunction and attendant severe complications, such as limb destruction. Our study reports a Chinese patient who met the diagnostic criteria for HSAN2 and harbored a homozygous mutation in the WNK1 gene (NM_213655.4: c.

Heterogeneous Cardiac-Derived and Neural Crest-Derived Aortic Smooth Muscle Cells Exhibit Similar Transcriptional Changes After TGFβ Signaling Disruption.

Background: Smooth muscle cells (SMCs) of cardiac and neural crest origin contribute to the developing proximal aorta and are linked to disease propensity in adults.

Methods: We analyzed single-cell transcriptomes of aortic SMCs from adult mice to determine basal states and changes after disrupting TGFβ (transforming growth factor-β) signaling necessary for aortic homeostasis.

Results: A minority of Myh11 lineage-marked SMCs differentially expressed genes suggestive of embryological origin.

Genome-Wide Association Study and Marker Development for Root Rot Resistance in Soybean.

root rot (FORR) is an important disease threatening soybean production. The development of marker-assisted selection (MAS) molecular markers will help accelerate the disease resistance breeding process and achieve the breeding goal of improving soybean disease resistance. This study evaluated the FORR disease resistance of 356 soybean germplasm accessions (SGAs) and screened resistance-related loci using genome-wide association analysis (GWAS) to develop molecular markers for MAS.

The Effects of , , a Lignocellulolytic Enzyme System, and Their Combination on the Fermentation Profiles, Chemical Composition, Bacterial Community, and In Situ Rumen Digestion of Fresh Waxy Corn Stalk Silage.

The objective of this study was to assess the impact of , , and a lignocellulolytic enzyme system on the nutritional value, fermentation profiles, rumen digestion, and bacterial community of fresh waxy corn stalk silage. Fresh waxy corn stalks harvested after 90 days of growth were treated with no additives (CON), compound multiple lactobacilli (ML, comprising at 1.0 × 10 cfu/g fresh weight and at 1.

A proof-of-concept analysis of data from the first NHS clinic for young adults with comorbid cannabis use and psychotic disorders.

Background: Cannabis use severely affects the outcome of people with psychotic disorders, yet there is a lack of treatments. To address this, in 2019 the National Health Service (NHS) Cannabis Clinic for Psychosis (CCP) was developed to support adults suffering from psychosis to reduce and/or stop their cannabis use.

Aims: Examine outcome data from the first 46 individuals to complete the CCP's intervention.

Novel deletion and nonsense pathogenic variant in Bardet-Biedl syndrome.

Background: Bardet-Biedl syndrome (BBS) is a rare syndromic ciliopathy characterized with retinal degeneration and a broad range of systemic features. Twenty-six BBS-associated genes have been identified to date and clinical genetic testing resolves around 80% of the cases. Two BBS cases unsolved by clinical genetic testing were recruited to identify causative variants using next-generation sequencing.

Nivolumab plus Ipilimumab in Microsatellite-Instability-High Metastatic Colorectal Cancer.

Background: Patients with microsatellite-instability-high (MSI-H) or mismatch-repair-deficient (dMMR) metastatic colorectal cancer have poor outcomes with standard chemotherapy with or without targeted therapies. Nivolumab plus ipilimumab has shown clinical benefit in nonrandomized studies of MSI-H or dMMR metastatic colorectal cancer.

Methods: In this phase 3 open-label trial, we randomly assigned patients with unresectable or metastatic colorectal cancer and MSI-H or dMMR status according to local testing to receive, in a 2:2:1 ratio, nivolumab plus ipilimumab, nivolumab alone, or chemotherapy with or without targeted therapies.

Effects of Genetic Polymorphism in the Gene on Milk Fat Traits and Relevance to Lipid Metabolism in Bovine Mammary Epithelial Cells.

Milk fat is an important indicator for evaluating milk quality and a symbol of the core competitiveness of the dairy industry. It can be improved through genetic and feed management factors. Interferon alpha-inducible protein 27 () was found to be differentially expressed when comparing the transcriptome in high- and low-fat bovine mammary epithelial cells (bMECs) in our previous research.

Cephalopod-inspired jetting devices for gastrointestinal drug delivery.

Needle-based injections currently enable the administration of a wide range of biomacromolecule therapies across the body, including the gastrointestinal tract, through recent developments in ingestible robotic devices. However, needles generally require training, sharps management and disposal, and pose challenges for autonomous ingestible systems. Here, inspired by the jetting systems of cephalopods, we have developed and evaluated microjet delivery systems that can deliver jets in axial and radial directions into tissue, making them suitable for tubular and globular segments of the gastrointestinal tract.

The effects of compound probiotics on production performance, rumen fermentation and microbiota of sheep.

Fungal probiotics have the potential as feed additives, but less has been explored in ruminant feed up to date. This study aimed to determine the effect of compound probiotics (CPs) with 1, 2 and on sheep's growth performance, rumen fermentation and microbiota. A total of 120 male sheep, aged 2 months and with the body weight of 16.

[Association Between the Protein Expressions of MutS Homologs and Villin and the Clinicopathological Characteristics in 310 Colon Cancer Patients].

Objective: To examine the relationship between the expressions of mismatch repair proteins, MutS homolog 2 (MSH2) and MutS homolog 6 (MSH6), and villin and the pathological features in patients with colon cancer.

Methods: A total of 310 cases of colon cancer patients who were treated at our hospital between January 2017 and September 2021 were selected. The diagnosis of colon cancer of all patients was verified by pathological evaluation.

Identification of a novel SNP mutation causing drop-out alleles in a paternity test using combined nest and touch-down PCR with Sanger sequencing.

Background: Short tandem repeat (STR) markers are widely used in forensic DNA analysis due to their ability to provide automated and standardised typing. However, incorrect STR typing can have a significant impact on forensic outcomes.

Aim: In this study, we detected drop-out alleles at the SE33 locus in a putative father-son pair using the Microreader 28 A ID System.

Wild rice GL12 synergistically improves grain length and salt tolerance in cultivated rice.

The abounding variations in wild rice provided potential reservoirs of beneficial genes for rice breeding. Maintaining stable and high yields under environmental stresses is a long-standing goal of rice breeding but is challenging due to internal trade-off mechanisms. Here, we report wild rice GL12 improves grain length and salt tolerance in both indica and japonica genetic backgrounds.

[Source Profiles of VOCs for Different Types of Industrial Boilers in Sichuan, China].

Seven different types of industrial boilers in Sichuan Province were selected to determine the VOC emission components and the source profiles of VOCs containing 115 components were established using Teflon sampling and GC-MS/FID analysis. The ozone formation potential （OFP） and emission factors of VOCs from different types of industrial boilers were analyzed. The results showed that the VOC components emitted from different types of industrial boilers were different.

Formulation and Characterization of Deep Eutectic Solvents and Potential Application in Recycling Packaging Laminates.

Deep Eutectic Solvents (DESs) show promising abilities for the delamination of multilayer packaging films that are used in food packaging and in pharmaceutical blister packs. Due to the complexity of their structure, the recycling of such materials is a challenging task, leading to the easiest or cheapest disposal option of either landfill or incineration. Towards the development of 'green' solvents for efficient waste management and recycling, this research focuses on the preparation of a range of hydrophobic and hydrophilic DESs based on carboxylic acids in combination with various naturally derived aliphatic and aromatic organic compounds as well as amino acids.

Head-to-head comparison of leading blood tests for Alzheimer's disease pathology.

Introduction: Blood tests have the potential to improve the accuracy of Alzheimer's disease (AD) clinical diagnosis, which will enable greater access to AD-specific treatments. This study compared leading commercial blood tests for amyloid pathology and other AD-related outcomes.

Methods: Plasma samples from the Alzheimer's Disease Neuroimaging Initiative were assayed with AD blood tests from C2N Diagnostics, Fujirebio Diagnostics, ALZPath, Janssen, Roche Diagnostics, and Quanterix.