A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).

Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.

Unveiling alfalfa root rot resistance genes through an integrative GWAS and transcriptome study.

Background: Root rot is a major disease affecting alfalfa (Medicago sativa L.), causing significant yield losses and economic damage. The primary pathogens include Fusarium spp.

Genome-wide identification and functional roles relating to anthocyanin biosynthesis analysis in maize.

Background: Anthocyanin is an important class of water-soluble pigments that are widely distributed in various tissues of plants, and it not only facilitates diverse color changes but also plays important roles in various biological processes. Maize silk, serving as an important reproductive organ and displaying a diverse range of colors, plays an indispensable role in biotic resistance through its possession of anthocyanin. However, the copy numbers, characteristics, and expression patterns of genes involved in maize anthocyanin biosynthesis are not fully understood.

Evaluation of Inflammatory Activity of Extraocular Muscles in Thyroid Associated Orbitopathy by [Ga]DOTATATE PET/CT.

Purpose: The accurate assessment of inflammatory activity of the extraocular muscles (EOMs) in thyroid associated ophthalmopathy (TAO) is crucial for formulating subsequent treatment strategies and prognostic judgments. This study aims to explore the efficacy of using [Ga]DOTATATE PET/CT to assess the inflammatory activity of EOMs in TAO patients.

Procedures: This study enrolled 22 TAO patients and 6 healthy volunteers, all of whom underwent orbital [Ga]DOTATATE PET/CT.

CT Multidimensional Radiomics Combined with Inflammatory Immune Score For Preoperative Prediction of Pathological Grade in Esophageal Squamous Cell Carcinoma.

Rationale And Objectives: Inflammation and immune biomarkers can promote angiogenesis and proliferation and metastasis of esophageal squamous cell carcinoma (ESCC). The degree of pathological grade reflects the tumor heterogeneity of ESCC. The purpose is to develop and validate a nomogram based on enhanced CT multidimensional radiomics combined with inflammatory immune score (IIS) for predicting poorly differentiated ESCC.

Solar-driven production of renewable chemicals via biomass hydrogenation with green methanol.

Solar-driven, selective biomass hydrogenation is recognized as a promising route to renewable chemicals production, but remains challenging. Here, we report a TiO supported Cu single-atom catalyst with a four-coordinated Cu-O structure, which can be universally applied for solar-driven production of various renewable chemicals from lignocellulosic biomass-derived platform molecules with good yields using green methanol as a hydrogen donor, to address this challenge. It is significant that the biomass upgrading driven by natural sunlight on a gram scale demonstrates the great practical potential.

Allelic transcriptomic profiling identifies the role of PRD-like homeobox genes in human embryonic-cleavage-stage arrest.

Cleavage-stage arrest in human embryos substantially limits the success rate of infertility treatment, with maternal-to-zygotic transition (MZT) abnormalities being a potential contributor. However, the underlying mechanisms and regulators remain unclear. Here, by performing allelic transcriptome analysis on human preimplantation embryos, we accurately quantified MZT progression by allelic ratio and identified a fraction of 8-cell embryos, at the appropriate developmental time point and exhibiting normal morphology, were in transcriptionally arrested status.

Efficacy of Spray Cryotherapy on Airway Secretions in Canine Models of Chronic Bronchitis and Mechanism Insights.

Introduction Bronchoscopic spray cryotherapy (SCT) is a novel treatment showing promise for chronic bronchitis (CB), characterized by excessive mucus secretion and productive cough. A large animal model for preclinical research of SCT is lacking, and its treatment's efficacy and mechanisms for CB are not well understood. Methods Eight Labradors were exposed to 200 ppm SO2 for 6 months to develop a CB model.

Machine learning-assisted assessment of municipal solid waste thermal treatment efficacy via rapid image recognition and visual analysis.

Decentralized thermal treatment is a common method for municipal solid waste (MSW) disposal in rural areas. However, evaluating the effect of incineration has always been challenging owing to the difficult and time-consuming measurements involved. Herein, this study presented a rapid image recognition method for assessing the effects of thermal treatment on MSW using a neural network algorithm and a BAEVA 1.

The whole-genome dissection of root system architecture provides new insights for the genetic improvement of alfalfa ( L.).

Appropriate root system architecture (RSA) can improve alfalfa yield, yet its genetic basis remains largely unexplored. This study evaluated six RSA traits in 171 alfalfa genotypes grown under controlled greenhouse conditions. We also analyzed five yield-related traits in normal and drought stress environments and found a significant correlation (0.

Optimising data sharing whilst protecting participant privacy: a data note describing processed data from a qualitative study of healthcare professionals' experiences of caring for women with false positive screening test results.

Introduction: The present article describes the processed data generated in a qualitative interview study and template analysis. Many women find the experience of being recalled and receiving a false-positive breast screening test result to be distressing. The interview study aimed to understand breast screening healthcare professionals' (HCPs) experiences of providing care during the recall process and when receiving false-positive screening test results, including their communication with women around false-positive screening test results.

Tumor Vaccine Exploiting Membranes with Influenza Virus-Induced Immunogenic Cell Death to Decorate Polylactic Coglycolic Acid Nanoparticles.

Immunogenic cell death (ICD) of tumor cells, which is characterized by releasing immunostimulatory "find me" and "eat me" signals, expressing proinflammatory cytokines and providing personalized and broad-spectrum tumor antigens draws increasing attention in developing a tumor vaccine. In this study, we aimed to investigate whether the influenza virus (IAV) is efficient enough to induce ICD in tumor cells and an extra modification of IAV components such as hemeagglutinin (HA) will be helpful for the ICD-induced cells to elicit robust antitumor effects; in addition, to evaluate whether the membrane-engineering polylactic coglycolic acid nanoparticles (PLGA NPs) simulating ICD immune stimulation mechanisms hold the potential to be a promising vaccine candidate, a mouse melanoma cell line (B16-F10 cell) was infected with IAV rescued by the reverse genetic system, and the prepared cells and membrane-modified PLGA NPs were used separately to immunize the melanoma-bearing mice. IAV-infected tumor cells exhibit dying status, releasing high mobility group box-1 (HMGB1) and adenosine triphosphate (ATP), and exposing calreticulin (CRT), IAV hemeagglutinin (HA), and tumor antigens like tyrosinase-related protein 2 (TRP2).

MAPK signaling mediated intestinal inflammation induced by endoplasmic reticulum stress and NOD2.

Endoplasmic reticulum (ER) stress is crucially involved in inflammatory bowel disease (IBD), but the mechanisms remain incompletely understood. This study aimed to elucidate how ER stress promotes inflammation in IBD. ER stress marker Grp78 and NOD2 in colon tissues of Crohn's disease (CD) patients and IBD model mice were detected by immunohistochemical analysis.

Constructing the Well Regenerated Decellularized Adipose Tissue Using External Volume Expansion Device.

Background: External volume expansion (EVE) devices has been demonstrated to enhance the survival of fat grafts. Decellularized adipose tissue (DAT) serves as a promising scaffold for adipose regeneration; however, the effectiveness of adipose regeneration in DAT remains limited, and the underlying mechanisms of its regeneration require further investigation.

Objective: This study explores the potential of EVE technology to enhance DAT-mediated adipogenesis by facilitating cellular recruitment and establishing a microenvironment conducive to adipose tissue regeneration.

The Labiomandibular Fold Anatomy for Comprehensive Lower Facial Rejuvenation: A Micro-Computed Tomography Investigation.

Background: Perioral rejuvenation is challenging due to the lack of spatial anatomical understanding of the labiomandibular fold (LMF). The LMF's formation mechanism remains underexplored due to intricate relationships between musculature and subcutaneous structures. This study aimed to clarify the three-dimensional structures of the LMF using micro-computed tomography and histology.

Analysis of expression and its clinical significance of the ADAMTS-2 in systemic lupus erythematosus.

Objectives: ADAMTS-2 is a procollagen N-proteinase that plays an important role in inflammation regulation. The objective of our research is to explore the expression of ADAMTS-2 in Systemic Lupus Erythematosus (SLE), and analyze its relationship with clinical features of SLE, and evaluate the potential value of ADAMTS-2 as a diagnostic biomarker in SLE.

Methods: ADAMTS-2 expression in PBMCs was detected by RT-qPCR in SLE patients, RA patients, and healthy controls (HC).

Sinomenine attenuates uremia vascular calcification by miR-143-5p.

Vascular calcification is considered to be a killer of the cardiovascular system, involved inflammation and immunity. There is no approved therapeutic strategy for the prevention of vascular calcification. Sinomenine exhibited anti-inflammatory and immunosuppressive effects.

Investigating slope stability of multiple stopes prone to instability in the Ziluoyi iron ore mining site.

The ore mining sites commonly experience slope instability, which is causing concern for the workers' safety and the operation's stability. Considering the Ziluoyi iron ore mining site as a case study, uniaxial compression strength and shear tests are performed on the lower disk peripheral rock, ore body, and upper disk peripheral rock, leading to the extraction of compressive strength and elastic modulus (lower disk: 77.7 MPa-9.

Analysis of mechanical properties and energy evolution mechanism of frozen calcareous clay under multi-factor interaction.

Research investigating the complex mechanical properties and energy evolution mechanisms of frozen calcareous clay under the influence of multiple factors is crucial for optimizing the artificial ground freezing method in shaft sinking, thereby enhancing construction quality and safety. In this study, a four-factor, four-level orthogonal test was devised, taking into account temperature, confining pressure, dry density, and water content. The complex nonlinear curvilinear relationship between deviatoric stress, volume strain, and axial strain of frozen calcareous clay under different interaction levels was analyzed.

Effects of environmental factors on the phenotypic traits and seed element accumulation of wild Elymus nutans in Tibet.

Soil nutrients and meteorological conditions are pivotal environmental factors influencing plant growth and development. This study systematically analyzes how soil nutrients and meteorological factors influence the phenotypic growth and seed production of wild Elymus nutans in Tibet. These environmental factors are critical ecological determinants, and this research seeks to unveil the complex and diverse ecological adaptation mechanisms of the species.

[Effects of Xihuang Pills on angiogenesis, invasion, and metastasis of p rostate cancer based on FAK/Src/ERK pathway].

Based on the focal adhesion kinase(FAK)/steroid receptor coactivator(Src)/extracellular regulated protein kinase(ERK) pathway, this study explored the effects of Xihuang Pills on angiogenesis, invasion, and metastasis in prostate cancer. Liquid chromatography-tandem mass spectrometry(LC-MS/MS) was used to analyze and identify the active ingredients of Xihuang Pills. Bioinformatics techniques, including R language and Perl programs, were employed to analyze the interactions between prostate cancer-related targets and the potential targets of Xihuang Pills.

[Molecular mechanism of Xinyang Tablets in improving myocardial fibrosis in uremic cardiomyopathy based on single-cell sequencing technology].

This study aimed to investigate the ameliorative effect of Xinyang Tablets on myocardial fibrosis in uremic cardiomyopathy(UCM) using single-cell sequencing technology. UCM mouse models were established by 5/6 nephrectomy(NPM) and randomly divided into the model group, Xinyang Tablets group, and sham-operated(sham) group as the control. The Xinyang Tablets group received postoperative interventions of Xinyang Tablets(0.

Plasma metabolomic signature of a proinflammatory diet in relation to breast cancer risk: a prospective cohort study.

Background: A proinflammatory diet has been linked to an increased risk of breast cancer. However, the underlying metabolic roles remain to be elucidated.

Objective: To investigate the metabolic mechanism between proinflammatory diet and breast cancer risk.