Human bocavirus-1 infection in hospitalized pediatric patients with acute respiratory tract infections.

Unlabelled: Human bocavirus-1 (HBoV1) is an emerging viral pathogen associated with acute respiratory tract infections (ARTIs) in pediatric populations. This study aimed to evaluate the infection status and clinical characteristics of HBoV1 among hospitalized children suffering from ARTIs. A cohort of 5,021 pediatric patients with respiratory infections was analyzed using targeted next-generation sequencing to identify HBoV1 and other co-existing respiratory pathogens.

Detection of Mycoplasma pneumoniae in hospitalized pediatric patients presenting with acute lower respiratory tract infections utilizing targeted next-generation sequencing.

Background: Mycoplasma pneumoniae is a prevalent pathogen in pediatric community-acquired pneumonia. Currently, limited literature exists on the clinical utilization of pathogen-targeted sequencing technologies.

Methods: Targeted next-generation sequencing (tNGS) technology was employed to analyze bronchoalveolar lavage fluid (BALF) from 1,070 hospitalized pediatric patients with acute lower respiratory tract infections.

Clinical and prognostic insights into Chlamydia trachomatis in pediatric acute respiratory infections: evidence from targeted next-generation sequencing of 5,021 cases.

Background: Chlamydia trachomatis (CT) is a major cause of respiratory tract infections in children. The primary objective of this research was to evaluate the infection status and clinical manifestations associated with C. trachomatis in these pediatric patients.

Implementation of multi-omics in diagnosis of pediatric rare diseases.

The rapid and accurate diagnosis of rare diseases is paramount in directing clinical management. In recent years, the integration of multi-omics approaches has emerged as a potential strategy to overcome diagnostic hurdles. This review examines the application of multi-omics technologies, including genomics, epigenomics, transcriptomics, proteomics, and metabolomics, in relation to the diagnostic journey of rare diseases.

Impact of high body mass index on gallbladder and biliary tract cancer burden in China: a comprehensive analysis of trends from 1990 to 2021.

Background: Gallbladder and biliary tract cancer (GBTC) is a significant health burden in China, exacerbated by the rising prevalence of high body mass index (BMI). Understanding the trends and factors contributing to mortality and disability associated with GBTC is crucial for targeted public health interventions.

Methods: We utilized data from the Global Burden of Disease (GBD) Study to assess the burden of GBTC attributable to high BMI in China from 1990 to 2021.

Global Leadership Initiative on Malnutrition criteria: Clinical benefits for patients with gastric cancer.

Malnutrition is a prevalent condition among patients with gastric cancer and is associated with poor survival outcomes. This study aimed to evaluate the clinical utility of the Global Leadership Initiative on Malnutrition (GLIM) criteria in predicting survival among patients with gastric cancer. The multicenter retrospective cohort study (INSCOC study) included 1406 patients enrolled between December 2012 and April 2020, with follow-up data collected until June 2023.

Image restoration model for microscopic defocused images based on blurring kernel guidance.

Defocus blurring imaging seriously affects the observation accuracy and application range of optical microscopes, and the blurring kernel function is a key parameter for high-resolution image restoration. However, its solving process is complicated and high in computational cost. Image restoration based on most neural networks has high requirements on data sets and the image resolution after restoration is limited because of the lack of quantitative estimation of blurring kernels.

The relationship between dexmedetomidine administration and prognosis in patients with sepsis-induced coagulopathy: a retrospective cohort study.

This study aimed to investigate whether dexmedetomidine provides survival benefit in critically ill patients with sepsis-induced coagulopathy (SIC). Patients with sepsis-induced coagulopathy admitted to the ICU were identified from the Medical Information Marketplace for Intensive Care (MIMIC)-IV database. They were divided into two groups: patients who started dexmedetomidine within 48 h of ICU admission and lasted for more than 4 h and patients who did not receive dexmedetomidine as a control group.

HBS1L deficiency causes retinal dystrophy in a child and in a mouse model associated with defective development of photoreceptor cells.

Inherited retinal diseases encompass a genetically diverse group of conditions caused by variants in genes critical to retinal function, including handful of ribosome-associated genes. This study focuses on the HBS1L gene, which encodes for the HBS1-like translational GTPase that is crucial for ribosomal rescue. We have reported a female child carrying biallelic HBS1L variants, manifesting with poor growth and neurodevelopmental delay.

The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation.

Background And Aims: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations to the CF transmembrane conductance regulator (CFTR). Symptoms and severity of the disease can be quite variable suggesting modifier genes play an important role.

Materials And Methods: Exome sequencing was performed on six individuals carrying homozygous deltaF508 for CFTR genotype but present with rapidly progressing CF (RPCF).

Carbon monoxide-induced autophagy enhances human mesenchymal stromal cell function via paracrine actions in murine polymicrobial sepsis.

Sepsis is a life-threatening process due to organ dysfunction resulting from severe infections. Mesenchymal stromal cells (MSCs) are being investigated as therapy for sepsis, along with conditioning regimens to improve their function. Carbon monoxide (CO) gas, which is cytoprotective at low doses, induces autophagy and is a mediator of inflammation.

Integrated multi-omics approach reveals the role of striated muscle preferentially expressed protein kinase in skeletal muscle including its relationship with myospryn complex.

Background: Autosomal-recessive mutations in SPEG (striated muscle preferentially expressed protein kinase) have been linked to centronuclear myopathy with or without dilated cardiomyopathy (CNM5). Loss of SPEG is associated with defective triad formation, abnormal excitation-contraction coupling, calcium mishandling and disruption of the focal adhesion complex in skeletal muscles. To elucidate the underlying molecular pathways, we have utilized multi-omics tools and analysis to obtain a comprehensive view of the complex biological processes and molecular functions.

A review of mesoscopic modeling and constitutive equations of particle-reinforced metals matrix composites based on finite element method.

Particle reinforced metal matrix composite (PRMMCs) has a complex mesoscopic structure, and the addition of particles can strengthen the metal matrix, which makes the deformation and failure behavior of PRMMCs under load very complicated. The finite element method can quantitatively describe the effect of PRMMCs microstructure parameters on the macroscopic properties of materials, but the key is to establish a representative volume element(RVE) model that can reflect the real mechanical properties of materials. This paper reports and discusses on the construction methods of the RVE model of PRMMCs from three aspects: the geometric modeling of PRMMCs microstructure, the construction of the matrix constitutive equation based on PRMMCs reinforcement mechanism and the interface module.

Identification of novel serum metabolic signatures to predict chronic kidney disease among Chinese elders using UPLC-Orbitrap-MS.

Background: Chronic kidney disease (CKD) is a major public health concern. However, validated and broadly applicable biomarkers for early CKD diagnosis are currently not available. We aimed to identify serum metabolic signatures at an early stage of CKD to provide a reference for future investigations into the early diagnostic biomarkers.

High number of candidate gene variants are identified as disease-causing in a period of 4 years.

Advances in bioinformatic tools paired with the ongoing accumulation of genetic knowledge and periodic reanalysis of genomic sequencing data have led to an improvement in genetic diagnostic rates. Candidate gene variants (CGVs) identified during sequencing or on reanalysis but not yet implicated in human disease or associated with a phenotypically distinct condition are often not revisited, leading to missed diagnostic opportunities. Here, we revisited 33 such CGVs from our previously published study and determined that 16 of them are indeed disease-causing (novel or phenotype expansion) since their identification.

Striated preferentially expressed gene deficiency leads to mitochondrial dysfunction in developing cardiomyocytes.

A deficiency of striated preferentially expressed gene (Speg), a member of the myosin light chain kinase family, results in abnormal myofibril structure and function of immature cardiomyocytes (CMs), corresponding with a dilated cardiomyopathy, heart failure and perinatal death. Mitochondrial development plays a role in cardiomyocyte maturation. Therefore, this study investigated whether Speg deficiency ( - / - ) in CMs would result in mitochondrial abnormalities.

Genetic deficiency of ribosomal rescue factor HBS1L causes retinal dystrophy associated with Pelota and EDF1 depletion.

Inherited retinal diseases (IRDs) encompass a genetically diverse group of conditions in which mutations in genes critical to retinal function lead to progressive loss of photoreceptor cells and subsequent visual impairment. A handful of ribosome-associated genes have been implicated in retinal disorders alongside neurological phenotypes. This study focuses on the gene, encoding HBS1 Like Translational GTPase which has been recognized as a critical ribosomal rescue factor.

Exploration of 1,2,3-triazolo fused triterpenoids as inhibitors of human coronavirus 229E targeting the viral nsp15 protein.

The coronavirus disease-19 (COVID-19) pandemic has raised major interest in innovative drug concepts to suppress human coronavirus (HCoV) infections. We previously reported on a class of 1,2,3-triazolo fused betulonic acid derivatives causing strong inhibition of HCoV-229E replication via the viral nsp15 protein, which is proposedly related to compound binding at an intermonomer interface in hexameric nsp15. In the present study, we further explored the structure-activity relationship (SAR), by varying the substituent at the 1,2,3-triazolo ring as well as the triterpenoid skeleton.

Inorganic All-Solid-State Sodium Batteries: Electrolyte Designing and Interface Engineering.

Inorganic all-solid-state sodium batteries (IASSSBs) are emerged as promising candidates to replace commercial lithium-ion batteries in large-scale energy storage systems due to their potential advantages, such as abundant raw materials, robust safety, low price, high-energy density, favorable reliability and stability. Inorganic sodium solid electrolytes (ISSEs) are an indispensable component of IASSSBs, gaining significant attention. Herein, this review begins by discussing the fundamentals of ISSEs, including their ionic conductivity, mechanical property, chemical and electrochemical stabilities.

Synthesis and structure-activity relationship study of phenoxybenzylpiperazine analogues as CCR8 agonists.

CCR8 agonists hold promise for the treatment of various auto-immune diseases. Despite the fact that phenoxybenzylpiperazine derivatives are known to be endowed with CCR8 agonistic activity, systematic structure-activity relationship studies have not been reported. In this study, ZK756326, a previously disclosed CCR8 agonist, was divided in various fragments and each subunit was subjected to structural modifications.

Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex.

Unlabelled: Autosomal-recessive mutations in (striated muscle preferentially expressed protein kinase) have been linked to centronuclear myopathy. Loss of SPEG is associated with defective triad formation, abnormal excitation-contraction coupling, and calcium mishandling in skeletal muscles. To elucidate the underlying molecular pathways, we have utilized multi-omics tools and analysis to obtain a comprehensive view of the complex biological processes.

Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.

Clinical exome/genome sequencing is increasingly being utilized by clinicians to diagnose various likely genetic conditions, but many cases remain undiagnosed. In a subset of those undiagnosed cases, a single heterozygous variant in an autosomal recessive (AR) condition with consistent phenotype may be identified, raising the question if a second variant is missing. Here, we report two cases of recessive conditions in which only one heterozygous variant was initially reported by clinical exome sequencing, and on research reanalysis a second heterozygous variant in trans was identified.

Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model.

Striated preferentially expressed protein kinase (SPEG), a myosin light chain kinase, is mutated in centronuclear myopathy (CNM) and/or dilated cardiomyopathy. No precise therapies are available for this disorder, and gene replacement therapy is not a feasible option due to the large size of SPEG. We evaluated the potential of dynamin-2 (DNM2) reduction as a potential therapeutic strategy because it has been shown to revert muscle phenotypes in mouse models of CNM caused by MTM1, DNM2, and BIN1 mutations.