variants in four Chinese children with Danon disease: clinical and molecular analysis in a monocentric cohort.

Background: Danon disease is an X-linked disorder caused by variants in the lysosome-associated membrane protein-2 () gene located on Xq24. Due to its inheritance in an X-chromosome dominant manner, males typically experience more severe manifestations than females.

Method: The whole exome sequencing was conducted on a cohort of 218 children diagnosed with hypertrophic cardiomyopathy; four children with hypertrophic cardiomyopathy carrying the variants were diagnosed at our centre.

A Study on the Extraction, Fermentation Condition Optimization, and Antioxidant Activity Assessment of Polysaccharides Derived from .

exhibits advantages such as strong thermotolerance, rapid growth rate, and high safety, making it an excellent host cell for the production of bio-based products. In this study, two exopolysaccharides, KE1 and KE2, were isolated from the fermentation broth of the strain KM-502, and their hydroxyl radical scavenging, DPPH scavenging, and Fe-reducing activities were evaluated. In vitro antioxidant assays demonstrated that exopolysaccharide KE2 exhibited superior antioxidant activity compared to KE1.

The GABAergic Parafacial Zone: Integrating Consciousness and Respiratory Control in Sevoflurane Anesthesia.

Background: General anesthesia induces both unconsciousness and respiratory depression, but whether these effects share a common neural substrate remains unclear. The parafacial zone (PZ), a GABAergic sleep-promoting region, has been proposed to modulate respiration. This study investigates whether PZ GABAergic neurons function as a common neural node coordinating anesthetic-induced unconsciousness and respiratory suppression.

Immunomodulatory roles of butyrate in asthma: mechanisms and therapeutic potentials.

Asthma, a chronic airway inflammatory disease driven by complex immune dysregulation, still remains a global health challenge despite its advances in biologic therapies. Butyrate, a major short-chain fatty acids (SCFAs) produced by intestinal microorganisms in the fermentation of dietary fiber, has recently garnered considerable attention for its multifaceted roles in maintaining immune homeostasis and modulating airway inflammation. This review summarizes the molecular mechanisms and recent advances by which butyrate alleviates asthmatic inflammation, including suppression of excessive activation of type 2 innate lymphoid cells (ILC2s) and T helper 2 (Th2) cells, inhibition of mast cells (MCs) degranulation, epigenetic modulation, regulation of receptor-mediated signaling pathways, and interactions along the gut-lung axis.

Simultaneous EGFR mutation detection using a sensitive dual-target biosensor based on 3D hollow carbon nanosphere synergy with circular bipedal DNA walkers.

A sensitive dual-target electrochemical biosensor was developed integrating circular bipedal DNA walkers with a three-dimensional hollow carbon nanospheres-tetrametallic nanoparticle (3D HCNs-TT NPs) modified platform, enabling concurrent detection of two critical epidermal growth factor receptor (EGFR) exon 19 mutations: E746_A750 deletion (Mut DNA A) and L747_S752delinsS (Mut DNA B). The circular bipedal DNA walkers address the limitations of low amplification efficiency in traditional single-legged DNA walkers and mitigate the sensitivity reduction caused by excessively long walking strands. Additionally, we used the 3D HCNs-TT NPs nanocomposite materials to modify the electrodes, which significantly increased the electron transfer rate and provided more active sites for molecular probe loading, thereby further enhancing the performance of the detection platform.

The impact of health emergencies on nurses' burnout: a systematic review and meta-analysis.

Background: Burnout is a prevalent occupational phenomenon among healthcare workers. To evaluate the current evidence on nurses' burnout and the impact of turnover intention during the pandemic is imperative.

Objective: We aimed to comprehensively synthesize and quantify the impact of health emergencies caused by the COVID-19 pandemic outbreak on nurses' burnout and identify factors associated with the negative impact.

Clinical characteristics and economic burden of hospitalized patients with acute exacerbation of chronic obstructive pulmonary disease in the Chinese Yi population.

Purpose: The study aimed to compare the clinical characteristics and economic burden of Yi and Han hospitalized patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD).

Patients And Methods: The patients hospitalized for AECOPD were retrospectively enrolled at the Hospital of Integrated Traditional and Western Medicine in Liangshan Yi Autonomous Prefecture, China, from January 2020 to October 2022. Data regarding the characteristics, treatment, clinical outcomes, and economic burden of Yi and Han AECOPD patients included in the cohort were compared and analyzed.

Exploration of the mechanism of Danggui Buxue decoction for the treatment of gastric ulcer based on network pharmacology, molecular docking, and experiment.

Objective: To explore the mechanism of Danggui Buxue decoction (, DBD) for the treatment of gastric ulcer (GU), based on network pharmacology and experiments.

Methods: A network pharmacology strategy was used to predict the main components, candidate targets, and potential signaling pathways. Then, molecular docking was performed to further investigate the interactions and binding affinities between the main components and primary targets.

Nintedanib Induces Mesenchymal-to-Epithelial Transition and Reduces Subretinal Fibrosis Through Metabolic Reprogramming.

This study aimed to investigate the tyrosine kinase inhibitor Nintedanib and its potential role in reversing epithelial-mesenchymal transition (EMT) induced by transforming growth factor beta 2 (TGF-β2) in retinal pigment epithelial (RPE) cells, along with its therapeutic potential using a mouse model of subretinal fibrosis. We hypothesized that the blockade of angiogenesis promoting and fibrosis inducing signaling using the receptor tyrosine kinase inhibitor Nintedanib (OfevTM) can prevent or reverse EMT both in vitro and in our in vivo model of subretinal fibrosis. Primary human retinal pigment epithelial cells (phRPE) and adult retinal pigment epithelial cell line (ARPE-19) cells were treated with TGF-β210 ng/mL for two days followed by four days of Nintedanib (1 µM) incubation.

Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough.

Epidermolysis Bullosa (EB) comprises a group of inherited blistering disorders caused by pathogenic variants in genes essential for skin and mucosal integrity. Nonsense mutations, which generate premature termination codons (PTCs), result in reduced or absent protein expression and contribute to severe disease phenotypes in EB. Readthrough therapies, which may continue translation past PTCs to restore full-length functional proteins, have emerged as promising approaches.

Transcriptome analysis of serum biomarker, shared gene signature and pharmacological targets between diabetic cardiomyopathy and nephropathy.

Cardio-renal injury frequently coexist in patients with diabetes mellitus. This study aims to explore the serum parameters, shared gene signature, pharmacological targets, and potential candidate compounds of the two major diabetic complications. This study employed a series of analytical methodologies, including omics analysis, bioinformatics analysis, correlation analysis, machine learning, network pharmacology, and molecular docking.

Measurement of deciduous molar crowns and arches using digital imaging technology in pre-school children from Xiamen, China.

Background: Deciduous teeth are closely associated with the development of the permanent teeth, drawing concern and emphasis in dental restoration and endodontics. The deciduous teeth arches and crowns can serve as a clinical diagnostic reference that contributes to the manufacture of dental restoration and dental therapy.

Aim: This study measured dimensions of deciduous molar teeth in pre-school children using digital imaging technology.

Engineering molecular switches of CRISPR/Cas12a for biosensing applications.

Benefiting from high specificity, excellent programmability, and efficient signal amplification capability, the CRISPR/Cas12a system has emerged as a crucial tool in the field of molecular diagnostics. To fully realize the application potential of Cas12a, many molecular switches of CRISPR/Cas12a have been recently developed to convert the activity of Cas12a from an inactive state to an active state in response to external stimuli, which significantly improves the biosensing performance in terms of the sensitivity, selectivity, and accuracy. This review summarizes recent progress in the development and application of Cas12a-based molecular switches, with a focus on their conditional activation mechanisms and biosensing applications.

A method for the detection and enrichment of endogenous cereblon substrates.

C-terminal cyclic imides are posttranslational modifications (PTMs) on proteins that are recognized and removed by the E3 ligase substrate adapter cereblon (CRBN). Despite the observation of these modifications across the proteome by mass spectrometry-based proteomics, an orthogonal and generalizable method to visualize the C-terminal cyclic imide would enhance detection, sensitivity, and throughput of endogenous CRBN substrate characterization. Here, we develop an antibody-like reagent, termed "cerebody," for visualizing and enriching C-terminal cyclic imide-modified proteins.

Short-term Effects of High Thoracic Epidural Blockade in Patients With Ischemic Heart Disease and Heart Failure: A Systematic Review and Data Synthesis.

Background: High thoracic epidural blockade (HTEB) with local anti-sympathetic effects modulates cardiac performance in patients undergoing cardiac or non-cardiac surgeries. However, the short-term cardio-protective effects of HTEB in non-operative patients with ischemic heart disease (IHD) and heart failure (HF) remain unclear. Our study aimed to pool evidence regarding the benefits of adjunctive HTEB intervention in patients with IHD and HF.

On Structuring Hyperspherical Manifold for Probing Novel Biomedical Entities.

The insufficient high- throughput modeling capability for high-dimensional, multiscale, and nonlinear real-world observations and measurements stands as one of the major impediments for modern science advancements. In this regard, machine learning holds tremendous promise for transforming the fundamental practice of scientific discovery by virtue of its data-driven disposition. With the ever-increasing stream of research data collection, it would be appealing to automate the exploration of patterns and insights from observational data for discovering novel classes of phenotypes and entities.

Exploratory study on the association of fish consumption with serum cotinine levels in the general adult population.

Background: This cross-sectional study examined the association between fish consumption and serum cotinine levels, a biomarker of tobacco exposure, among adults in the United States.

Methods: Data were obtained from the National Health and Nutrition Examination Survey (NHANES) conducted between 2001 and 2018. A total of 32,766 participants were included after applying eligibility criteria.

Development and validation of a prediction model based on a nomogram for tuberculous pleural effusion.

Background: Diagnosing tuberculous pleural effusion (TPE) is challenging. There is a lack of cross-sectional lateral comparisons among TPE prediction models.

Objectives: We aimed to develop and validate a novel TPE prediction model and compare its diagnostic performance with that of existing models.

Arbuscular mycorrhizal fungi enhance alfalfa production by changing root morphology and physiology.

Soil phosphorus (P) deficiency can severely limit crop and forage productivity. With limited P resources, breeding programs to select high-P efficiency (HPE) genotypes have been developed, but the role of arbuscular mycorrhizal fungi (AMF) in altering root morphology and physiology to increase P use efficiency and production remains poorly understood. In this study, we compared mycorrhizal responsiveness, and plasticity of root morphological and physiological traits between two low-P efficiency (LPE) and two HPE alfalfa genotypes under low and high P treatments.

Multienzyme-Mimicking CuO/AuPt with Efficient Photothermal Effects for Superior and Long-Term Antibacterial Performance.

Microbial evolution, combined with antibiotic overuse, has accelerated the emergence of antibiotic-resistant bacteria. These bacteria pose significant risks to human health and the ecological environment. To address this challenge, researchers are increasingly focusing on multifunctional nanostructures with multiple antimicrobial mechanisms.

NTCP-Based Prediction of Lung Sparing With IMPT in BC Patients and Implication of Patient Selection.

Purpose: To compare the difference in normal tissue complication probability (ΔNTCP) between proton therapy (PT) and photon therapy plans using radiation-induced lung injury (RILI) as an endpoint and to analyze its correlation with thoracic anatomic features in breast cancer patients.

Materials And Methods: A total of 409 breast cancer patients receiving photon intensity-modulated radiation therapy were randomly split into training and testing sets at an 8:2 ratio. A dose-modifying-factors (DMFs)-incorporated Lyman-Kutcher-Burman NTCP model was developed by maximum likelihood estimation with the training set to predict the risk of grade ≥ 1 RILI (CTCAE 5.

Senescence Alters Antimicrobial Peptide Expression and Induces Amyloid-β Production in Retinal Pigment Epithelial Cells.

Age-related retinal degeneration, such as diabetic retinopathy and age-related macular degeneration, are major causes of blindness in modern society. Recent studies suggest that dysbiosis and intraocular translocation of bacteria from the blood circulation are critically involved in retinal degeneration. We hypothesise that the blood-retinal barrier (BRB) cells can protect the neuroretina from blood-borne pathogens by producing antimicrobial peptides (AMPs).

Establishing a knowledge-based planning model for left-sided breast cancer patients receiving hypofractionated postmastectomy and regional nodal irradiation.

We aimed to validate and evaluate a RapidPlan model for left-sided breast cancer patients receiving hypofractionated PM-RNI. This study included 89 patients with left-sided breast cancer who were enrolled in a clinical trial and received PM-RNI using IMRT. A RapidPlan KBP model was developed using 40 clinical IMRT plans treated at Institution A.

Further investigation of (Poaceae, Bambusoideae) in China based on Skmer analysis and morphology.

is a genus of paleotropical woody bamboos distributed in Southeast Asia, characterised by its complex taxonomic history. Currently, the taxonomic status of several species within remains unresolved, primarily due to incompleteness of vegetative specimens for identification, coupled with scarcity of floral and fruit specimens and phylogenetic discordance. To address these issues, we developed a genome skimming dataset with multiple samples per species of through the Skmer approach.

Accordion-shaped MXene/PANI-Pd loaded with dual aptamer rolling circle-amplified 3D DNA networks for enhanced sensitivity in circulating tumor cell detection.

The high mortality rate associated with metastasis poses a major threat to human health. Circulating tumor cells (CTCs), being the dominant factor leading to tumor metastasis, are an advantageous target of liquid biopsy and an important biomarker for prognosis and cancer monitoring. Here, we report a sensing strategy based on accordion-like multilayered TiC MXene-polyaniline-palladium nanoparticles (MXene/PANI-Pd) and dual aptamer rolling circle-amplified (RCA) 3D DNA networks to trap CTCs and generate electrochemical signals.