Practice Recommendations for Genetic Testing of Ataxias.

Objective: Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at-risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic counseling and testing for individuals with unexplained ataxia.

Methods: We conducted a comprehensive literature review on genetic counseling and testing in ataxia, identifying 7362 articles.

Clinical trial landscape analysis of stem cell therapy for autoimmune rheumatic diseases.

Background: Autoimmune rheumatic diseases (ARDs), including rheumatoid arthritis and osteoarthritis, are debilitating conditions with limited curative options. Stem cell therapy offers promising regenerative and immunomodulatory benefits.

Methods: We analyzed global clinical trial data from the Informa Trialtrove database up to 31 March 2025, identifying 449 relevant trials on stem cell therapy for ARDs.

An Extraction Tool for Venous Thromboembolism Symptom Identification in Primary Care Notes to Facilitate Electronic Clinical Quality Measure Reporting: Algorithm Development and Validation Study.

Background: Diagnosis of venous thromboembolism (VTE) is often delayed, and facilitating earlier diagnosis may improve associated morbidity and mortality. Clinical notes contain information not found elsewhere in the medical record that could facilitate timely VTE diagnosis and accurate quality measurement. However, extracting relevant information from unstructured clinical notes is complex.

Identification of Proteomic Biomarkers and Therapeutic Targets for Vitiligo Using a Two-Sample Proteome-Wide Mendelian Randomization Approach.

Background: Vitiligo is a chronic autoimmune disorder characterized by melanocyte loss and depigmented skin patches. Effective treatment options are limited, and therapeutic progress has been hindered by incomplete understanding of its precise pathogenic mechanisms. We aimed to identify candidate protein biomarkers and therapeutic targets for vitiligo by integrating large-scale proteomics and genomic data using Mendelian randomization (MR).

LncRNA938/ TAF9/TTK axis promotes EMT and serves as a therapeutic target in hepatoblastoma.

Background: Hepatoblastoma (HB) is the most common malignant liver tumor in children. The expression of TAF9 is frequently upregulated in HB; however, its underlying molecular mechanisms are not yet fully understood, and its potential as a therapeutic target warrants further investigation.

Methods: Bioinformatic analysis was performed using sequencing datas to evaluate clinical diagnostic and prognostic values of molecules.

A multifunctional hydrogel promotes diabetic wound healing by remodeling iron balance and energy metabolism.

Patients with diabetes often exhibit delayed wound healing, which is characterized by the endothelial cells dysfunction and excessive accumulation of free tissue iron. Ferroptosis, a form of regulated cell death driven by iron-dependent lipid peroxidation, has been implicated in the pathogenesis of diabetic complications, though its role in angiogenesis under hyperglycemia remains unknown. In this study, we revealed a distinct ferroptosis-associated metabolic phenotype in endothelial cells derived from unhealed diabetic foot ulcers (DFUs) and under high glucose exposure in vitro, marked by elevated intracellular reactive oxygen species (ROS) levels and impaired mitochondrial function.

Universal and highly sensitive detection of influenza A virus and streptococcus pneumoniae using WGA-modified magnetic SERS nanotags-based lateral flow assay.

Infection with influenza A (FluA) virus usually leads to secondary infection with streptococcus pneumoniae (s. pneumoniae). It is urgent to develop rapid, highly sensitive, simultaneous and universal point-of-care testing (POCT) techniques for FluA and s.

Neoadjuvant PD-1/PD-L1 inhibitors combined with chemotherapy in gastric cancer and gastroesophageal junction adenocarcinoma: a systematic review and meta-analysis of single-arm studies.

Background: Neoadjuvant chemotherapy, particularly neoadjuvant immunotherapy, has achieved significant progress in treating gastric cancer (GC) and gastroesophageal junction (GEJ) adenocarcinoma. While PD-1/PD-L1 inhibitors have improved survival outcomes in some patients, the efficacy of combining neoadjuvant chemotherapy with PD-1/PD-L1 inhibitors remains insufficiently validated.

Objective: This study aims to evaluate the efficacy and safety of neoadjuvant chemotherapy combined with PD-1/PD-L1 inhibitors in GC/GEJ adenocarcinoma and enhance statistical power through meta-analysis.

Supragingival microbial profiles in caries-free and caries-active adolescents treated with fixed orthodontics.

Background: Dental caries occur primarily due to the formation of excessive dental plaque biofilm on teeth surfaces. This study aims to analyze the supragingival microbial profiles of permanent teeth in caries-free and caries-active adolescents with fixed orthodontic appliances and to identify bacterial biomarkers that may be indicative of caries activity in specific population.

Methods: Twelve-year-old adolescents treated with fixed orthodontic appliances were selected as the study population, with 5 caries-free and 5 caries-active subjects.

Precise synthesis of Fe single-atom catalysts on montmorillonite/g-CN heterostructures for highly efficient fenton-like degradation of organic pollutants.

Single-atom Fenton-like catalysts supported on graphitic carbon nitride (g-CN) show great potential for aqueous organic pollutant degradation but are hindered by structural heterogeneity and inefficient metal anchoring. Herein, a precise synthesis strategy that can balance metal precursor supply and anchoring site formation is proposed to construct iron single-atom catalysts (Fe-SACs) on a g-CN/montmorillonite (MMT) heterostructure. Directional electron transfer from MMT to g-CN was found to strengthen metal-support interactions, optimizing interfacial electron redistribution and significantly enhancing both catalytic activity and stability.

Progression of myopia among school-aged children in Guangzhou, China.

Aim: To investigate the prevalence and characteristics of myopia in school-aged students and effects of environmental and genetic factors on the progression of myopia.

Methods: A total of 2422 students aged between 5 and 18y from nine schools in Baiyun District of Guangzhou, China were sampled using a stratified sampling method in 2020. Among them, 1066 students participated in the follow-up survey the following year.

Large-scale CRISPR screening in primary human 3D gastric organoids enables comprehensive dissection of gene-drug interactions.

Understanding how genes influence drug responses is critical for advancing personalized cancer treatments. However, identifying these gene-drug interactions in a physiologically relevant human system remains a challenge, as it requires a model that reflects the complexity and heterogeneity among individuals. Here we show that large-scale CRISPR-based genetic screens, including knockout, interference (CRISPRi), activation (CRISPRa), and single-cell approaches, can be applied in primary human 3D gastric organoids to systematically identify genes that affect sensitivity to cisplatin.

Smart bacteriophage release from bovine β-lactoglobulin fibrils based hydrogel with anti-MRSA, biofilm degradation and hair follicle regeneration functions for infected burn wound.

The emergence and spread of antibiotic-resistant bacteria negatively impact the effectiveness of antibiotics in treating burn wound infections, which significantly hinders the healing process. To address this, a β-lactoglobulin fibrils/oxidized dextran/phage (BLGFs/ODEX/Phage) hydrogel dressing has been developed to treat burn wounds that are infected with methicillin-resistant Staphylococcus aureus (MRSA). First, a highly efficacious MRSA phage is isolated and purified, and it exhibits excellent bactericidal efficiency, storage stability, biofilm degradation ability, and biocompatibility.

Comparative toxicological impacts of tire wear and latex particle leachates on zebrafish embryos: Chemical characterization, oxidative stress, and transcriptomic disruption.

Rubber-derived pollutants, such as tire wear particles (TWP) and latex particles (LAP), pose increasing threats to aquatic ecosystems due to their complex chemical composition and potential toxicity. This study systematically evaluated the embryotoxicity of 30-day leachates from TWP and LAP (10 g/L) in zebrafish (Danio rerio) by integrating chemical characterization and toxicological assessment. ICP-MS and GC-MS analyses revealed elevated levels of toxic metals, notably zinc and aluminum that exceeded established ambient water quality criteria for aquatic life, along with numerous organic contaminants including antioxidants, plasticizers, and accelerators.

A three-in-one strategy of residual alkali removal, TiO-coating, and Ti-doping to enhance sodium storage properties of P2/O3 biphasic layered oxide cathodes.

Unstable surface/interface structure and serious irreversible phase transitions greatly hinder the commercial application of sodium layered oxides. Herein, a TiO-coated and Ti-doped P2/O3 biphasic NaMnNiCuO cathode material is designed by immersing NaMnNiCuO in a purpose-made solution mixed with tetrabutyl titanate, acetic acid and ethanol, followed by solid-phase sintering. During the immersing process, residual alkali on the surface of the material is removed using low-concentration acetic acid, and a layer of tetrabutyl titanate is adsorbed onto the surface.

Decoupled spectral tuning for multi-band perfect absorption via Brillouin zone-folding induced quasi-BICs.

Monolayer graphene-based perfect absorber plays a critical role in advanced sensing, photodetection, and optical communications. Significant effort has been devoted to realizing an ideal absorber at a single wavelength by integrating graphene onto a high-quality resonant metasurface. Here, we present what we believe to be a novel strategy for achieving independent, multi-band perfect absorption in graphene by harnessing Brillouin zone-folding induced quasi-bound states in the continuum (quasi-BICs).

Improvement of Rice Seed Storability by Regulating Lipid Metabolism Using a CRISPR/Cas9 System.

Long-term storage of rice grain is critical for global food security, yet rice is inherently susceptible to deterioration during storage. Herein, rice seed storability was improved by targeting three key enzyme genes in the lipid metabolism pathway via CRISPR/Cas9 technology, and the mechanism underlying this was analyzed by an untargeted lipidomic approach. Our findings demonstrate that the significantly inferior seed storability in the Yu-Zhen-Xiang (YZX) cultivar compared with the Xi-Li-Gong-Mi (XLGM) cultivar arises from accelerated lipid catabolism and reactive oxygen species (ROS) overproduction.

Resilience and vulnerabilities of tumor cells under purine shortage stress.

Purpose: Purine metabolism is a promising therapeutic target in cancer; however, how cancer cells respond to purine shortage, particularly their adaptation and vulnerabilities, remains unclear.

Experimental Design: Using the recently developed purine shortage-inducing prodrug DRP-104 and genetic approaches, we investigated the responses in prostate, lung, and glioma cancer models.

Results: We demonstrate that when de novo purine biosynthesis is compromised, cancer cells employ microtubules to assemble purinosomes, multi-protein complexes of de novo purine biosynthesis enzymes that enhance purine biosynthesis efficiency.

Lead-driven synergistic interactions in environmental metal (loid) mixtures: Systemic inflammation mediating autism spectrum disorder risk in Chinese children.

Environmental metal (loid) exposure, particularly to lead (Pb), constitutes a growing concern for potential associations with autism spectrum disorder (ASD). Current risk assessments may underestimate neurodevelopmental impacts due to co-exposure interactions, while systemic inflammation's mediating role in Pb-ASD relationships remains poorly characterized. This case-control study quantified serum concentrations of eight metal (loid)s via inductively coupled plasma mass spectrometry (ICP-MS) in 81 ASD cases and 402 typically developing (TD) Chinese children.

Human exposure to green spaces and monoterpenes: discovery and use of α-pinene metabolites as biomarkers.

Exposure to green spaces has been linked to numerous health benefits, including a reduction in the risk of cardiovascular disease and lower mortality rates. However, to better understand how green spaces influence human health, it is essential to have valid, quantitative measures of greenness exposure. Building on our previous identification of urinary limonene metabolites as potential biomarkers of exposure, we now investigate α-pinene, another abundant plant-emitted monoterpene, to identify and quantify its urinary metabolites and evaluate their suitability as biomarkers.

Therapeutic efficacy of superficial vein-anastomosed spiral propeller flap in elderly patients with foot and ankle soft tissue defects.

Background: This study aimed to evaluate the efficacy of superficial vein anastomoses spiral propeller flaps in improving venous return and reducing postoperative complications for elderly patients with foot and ankle soft tissue defects.

Methods: A prospective study involving 15 elderly patients (65-90 years) underwent spiral propeller flap repair between 2020 and 2021. Flap perfusion, swelling, venous patency (Doppler ultrasound), and ankle function (AOFAS score) were assessed.

A predictive model for prognosis in infants with surgical necrotizing enterocolitis.

Background: Surgical intervention could improve the prognosis of infants with necrotizing enterocolitis (NEC), but it's also an independent risk factor for severe complications and death. This study aimed to establish a nomogram to predict the prognosis of infants with surgical NEC.

Methods: A total of 189 infants with surgical NEC were enrolled from January 2013 to May 2024.

Lipid-mediated photoprotection confers strong light resilience in hyperaccumulator Sedum alfredii.

The heavy metal hyperaccumulator Sedum is limited by sensitivity to intense sunlight. This study compared light-tolerant Sedum alfredii and light-sensitive Sedum plumbizincicola under light intensities (600-1400 μmol m⁻² s⁻¹). Sedum plumbizincicola exhibited complete mortality at 1400 μmol m⁻² s⁻¹ after six days, while Sedum alfredii showed minimal to moderate mortality.

A "giant bomb" in acute myocardial infarction due to coronary artery aneurysm: a case report.

Background: Coronary artery aneurysm associated with acute coronary syndromes represents a rare clinical entity, particularly in cases with persistent significant thrombus burden following aspiration therapy. The novel pathomechanism of intra-aneurysmal thrombosis secondary to pathological flow dynamics-characterized by endothelial shear stress perturbation and blood stasis-has been rarely documented. While existing literature describes therapeutic applications of surgical repair, percutaneous intervention, and pharmacotherapy in coronary artery aneurysm management, no consensus-driven protocol has been established, reflecting critical knowledge gaps in risk-stratified treatment algorithms for thrombus-laden aneurysms.

Enantioselective Total Synthesis of Bipolarolides A and B.

Bipolarolides A and B are members of the ophiobolin family of sesterterpenes, characterized by their intricate cage-like structures. Herein we report a concise asymmetric total synthesis of bipolarolides A and B enabled by the type-II Diels-Alder reaction. The synthesis features a sequence of key transformations: an iridium-catalyzed enantioselective allylation to establish the first stereocenter, type-II Diels-Alder reaction to rapidly assemble the bicyclo[3.