Identifying New Susceptibility Gene of Nonsyndromic Orofacial Cleft Based on Syndromes Accompanied With Hypertelorism.

ObjectivesGenetic studies of nonsyndromic orofacial clefts (NSOC) focus on identifying susceptibility genes and elucidating underlying pathogenesis. A correlation between orofacial clefts and hypertelorism has been established by previous studies, hinting at shared genetic risk factors.Materials and MethodsSyndromes characterized by hypertelorism and orofacial clefts were screened, followed by analysis and selection of their causative genes, resulting in 35 candidate genes.

Novel susceptibility gene SLC23A2 functions via PI3K-AKT-mTOR pathway in etiology of non-syndromic cleft palate.

The biological interactions between genetic and environmental modifiers play critical roles in the etiology of non-syndromic orofacial cleft (NSOC), but it is rarely studied. This study selected 47 environmental related genes from the metabolic pathways of smoking, drinking, hypoxia, and vitamins (including vitamin A, vitamin B9 (folic acid), vitamin C (ascorbic acid), vitamin D, and vitamin E), and test their associations with NSOC and its subtypes. We found that a novel gene SLC23A2, the vitamin C transporter gene is significantly associated with non-syndromic cleft palate only (NSCPO) (p = 3.

Targeted Resequencing Identifies Novel MAFB Variants Associated With Nonsyndromic Cleft Lip With or Without Cleft Palate.

ObjectivesNonsyndromic cleft lip with or without palate (NSCL/P) is one of the most prevalent congenital orofacial defects. It arises from a combination of genetic and environmental factors. This study aims to identify new risk loci around the musculoaponeurotic fibrosarcoma oncogene family, protein B () gene in NSCL/P patients from the Western Han Chinese population.

Musculoskeletal ultrasound-guided needle knife therapy in the treatment of refractory nonspecific low back pain: A single-blind, randomized controlled trial.

Background: This clinical study aimed to evaluate the Numerical Rating Scale (NRS), Oswestry disability index (ODI), and Japanese Orthopedic Association (JOA) scores at 2, 4, 6, and 12 weeks, and the thickness of the 4th lumbar multifidus under ultrasound at 6 and 12 weeks, using musculoskeletal ultrasound (MU)-guided needle-knife loosening therapy for treating refractory nonspecific low back pain (RNSLBP) compared to usual care, to demonstrate the clinical efficacy of needle knife therapy for RNSLBP. This study used a single-blind, randomized controlled design.

Methods: A total of 66 patients with RNSLBP who met the inclusion criteria were randomly divided into an observation group and a control group of 33 patients.

Association analysis between forkhead box E1 gene and non-syndromic cleft lip with or without cleft palate in Han Chinese population.

Objectives: This study aims to explore the association between single nucleotide polymorphisms (SNPs) loci near the haplotype region hg19 chr9:100560865-100660865 of the forkhead box E1 (FOXE1) gene and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P) in western Han Chinese population.

Methods: In the first stage, our study recruited 159 NSCL/P patients and performed targeted region sequencing to screen SNPs loci near the haplotype region of the FOXE1 gene associated with NSCL/P. In the second stage, we selected 21 common SNPs and re-enrolled 1 000 non-syndromic cleft lip only (NSCLO) patients, 1 000 non-syndromic cleft palate only (NSCPO) patients, and 1 000 normal controls to verify the association.

An on-Demand Oxygen Nano-vehicle Sensitizing Protein and Nucleic Acid Drug Augment Immunotherapy.

Hypoxia severely limits the antitumor immunotherapy for breast cancer. Although efforts to alleviate tumor hypoxia and drug delivery using diverse nanostructures achieve promising results, the creation of a versatile controllable oxygen-releasing nano-platform for co-delivery with immunostimulatory molecules remains a persistent challenge. To address this problem, a versatile oxygen controllable releasing vehicle PFOB@F127@PDA (PFPNPs) is developed, which effectively co-delivered either protein drug lactate oxidase (LOX) or nucleic acids drug unmethylated cytosine-phosphate-guanine oligonucleotide (CpG ODNs).

Identifying New Susceptibility Genes of Non-Syndromic Orofacial Cleft Based on Syndromes Accompanied With Craniosynostosis.

Objectives: Orofacial cleft (OC) can be classified into syndromic orofacial cleft (SOC) and non-syndromic orofacial cleft (NSOC), depending on whether there are other congenital deformities. Craniosynostosis, the premature closure of cranial sutures, is a common phenotype of SOC resulting in abnormal ossification of skull and brain development disorders. Its correlation with OC offers a promising approach to identify susceptibility genes for NSOC by examining causative genes of SOCs with craniosynostosis.

Clinical efficacy of acupuncture therapy combined with core muscle exercises in treating patients with chronic nonspecific low back pain: a systematic review and meta-analysis of randomized controlled trials.

Introduction: This meta-analysis aimed to determine the clinical efficacy of acupuncture combined with core muscle exercises on pain and functional status in patients with chronic nonspecific low back pain.

Methods: This study followed the Preferred Reporting Items for Systematic Reviews and meta-analysis criteria for systematic reviews and meta-analyses. Randomized controlled trials published till November 2023 were searched in PubMed, Web of Science, Cochrane, Embase, China National Knowledge Infrastructure, Chinese Biomedical Literature, and Wanfang databases.

Ultrasound Trigger Ce-Based MOF Nanoenzyme For Efficient Thrombolytic Therapy.

The inflammatory damage caused by thrombus formation and dissolution can increase the risk of thrombotic complications on top of cell death and organ dysfunction caused by thrombus itself. Therefore, a rapid and precise thrombolytic therapy strategy is in urgent need to effectively dissolve thrombus and resist oxidation simultaneously. In this study, Ce-UiO-66, a cerium-based metal-organic framework (Ce-MOF) with reactive oxygen species (ROS) scavenging properties, encapsulated by low-immunogenic mesenchymal stem cell membrane with inflammation-targeting properties, is used to construct a targeted nanomedicine Ce-UiO-CM.

A novel mitochondrial unfolded protein response-related risk signature to predict prognosis, immunotherapy and sorafenib sensitivity in hepatocellular carcinoma.

Hepatocellular carcinoma (HCC) is a common cause of cancer-associated death worldwide. The mitochondrial unfolded protein response (UPR) not only maintains mitochondrial integrity but also regulates cancer progression and drug resistance. However, no study has used the UPR to construct a prognostic signature for HCC.

Transcription factors-related molecular subtypes and risk prognostic model: exploring the immunogenicity landscape and potential drug targets in hepatocellular carcinoma.

Background: Hepatocellular carcinoma (HCC) is the most prevalent form of liver cancer, with a high mortality rate and poor prognosis. Mutated or dysregulated transcription factors (TFs) are significantly associated with carcinogenesis. The aim of this study was to develop a TF-related prognostic risk model to predict the prognosis and guide the treatment of HCC patients.

A follicle-stimulating hormone receptor-targeted near-infrared fluorescent probe for tumor-selective imaging and photothermal therapy.

Late detection, peritoneal dissemination, chemoresistance and weak response to targeted therapeutics lead to high mortality in ovarian cancer. More efficient and specific tumor imaging and therapeutic agents are needed to improve the resection rate of surgery and to eliminate residual disease. The expression patterns of follicle-stimulating hormone (FSH) receptor make it a suitable target for ovarian cancer.

Apoptosis-related prognostic biomarkers and potential targets for acute kidney injury based on machine learning algorithm and in vivo experiments.

Acute kidney injury (AKI) is a common critical illness in hospitalized patients, characterized by a rapid decline in kidney function over a short period, which can seriously endanger the patient's life. Currently, there is a lack of precise and universal AKI diagnostic biomarkers in clinical practice. In this study, weighted gene coexpression network analysis (WGCNA), differential expression analysis, univariate and multivariate logistic regression analyses, receiver operating characteristic (ROC) curves, and immune cell infiltration were performed to identify apoptosis-related biomarkers that can be used for AKI diagnosis.

Immunogenic landscape and risk score prediction based on unfolded protein response (UPR)-related molecular subtypes in hepatocellular carcinoma.

Background: Hepatocellular carcinoma (HCC) is the most common type of cancer and causes a significant number of cancer-related deaths worldwide. The molecular mechanisms underlying the development of HCC are complex, and the heterogeneity of HCC has led to a lack of effective prognostic indicators and drug targets for clinical treatment of HCC. Previous studies have indicated that the unfolded protein response (UPR), a fundamental pathway for maintaining endoplasmic reticulum homeostasis, is involved in the formation of malignant characteristics such as tumor cell invasiveness and treatment resistance.

Afterglow/Fluorescence Dual-Emissive Ratiometric Oxygen Probe for Tumor Hypoxia Imaging.

Hypoxia is a common feature of many diseases such as solid tumors. The measurement and imaging of oxygen (O) are extremely important for disease diagnosis and therapy evaluation. In this work, the afterglow/fluorescence dual-emissive ratiometric O probe based on a photochemical reaction-based afterglow system is reported.

Autophagy genes in biology and disease.

Macroautophagy and microautophagy are highly conserved eukaryotic cellular processes that degrade cytoplasmic material in lysosomes. Both pathways involve characteristic membrane dynamics regulated by autophagy-related proteins and other molecules, some of which are shared between the two pathways. Over the past few years, the application of new technologies, such as cryo-electron microscopy, coevolution-based structural prediction and in vitro reconstitution, has revealed the functions of individual autophagy gene products, especially in autophagy induction, membrane reorganization and cargo recognition.

Improving VOC control strategies in industrial parks based on emission behavior, environmental effects, and health risks: A case study through atmospheric measurement and emission inventory.

Industrial parks have a very important impact on regional economic development, but the extremely complex and relatively concentrated volatile organic compound (VOC) emissions from industrial parks also result in it being difficult to control VOCs. In this study, we took a large integrated industrial park in the upper reaches of the Yangtze River as an example, conducted a 1-year monitoring campaign of ambient air VOCs, and established a speciated VOC emission inventory based on the measured chemical profiles of the key industries. The comprehensive control index (CCI) of 125 VOCs was evaluated using the entropy weighting method based on comprehensive consideration of three aspects, namely, emission behavior, environmental effects, and health risks of VOCs, to identify priority VOC species and their key sources for VOC control in industrial parks.

The autophagy pathway beyond model organisms: an evolutionary perspective.

In this issue, we answer a frequently asked question regarding the evolution of the macroautophagy/autophagy pathway.

First Nerve-Related Immunoprobe for Guidance of Renal Denervation through Colocalization of NIR-II and Photoacoustic Bioimaging.

Nerve-related fluorophores generally locate in the visible or near-infrared region with shallow penetration depth and easy uptake by surrounding tissues. Prolonging the optical window promotes resolution by minimizing photoscattering and eliminating autofluorescence for NIR-II (second near infrared; 1000-1700 nm) and photoacoustic bioimaging. In addition, combination of the two could help in colocalization of targets at the 3D level.

Development and Validation of a Novel Ferroptosis-Related Gene Signature for Prognosis and Immunotherapy in Hepatocellular Carcinoma.

Hepatocellular carcinoma (HCC) is a cancer that is sensitive to ferroptosis, and immunotherapy has emerged as a promising treatment for HCC patients. However, the prognostic potential of ferroptosis-related genes (FRGs) and the effect of ferroptosis on the tumor immune microenvironment in HCC remain largely obscure. Here, we analyzed the expression pattern of FRGs using the TCGA, ICGC and GEO databases.

An NIR-II Photothermally Triggered "Oxygen Bomb" for Hypoxic Tumor Programmed Cascade Therapy.

Hypoxia, as a characteristic feature of solid tumors, has a close relationship with tumor resistance to photodynamic therapy (PDT) and chemotherapy. Perfluorocarbon (PFC) is reported to relieve hypoxic in solid tumors by acting as an oxygen carrier via several nanostructures. However, the oxygen delivery process is mostly driven by a concentration gradient, which is uncontrollable.

Evolutionary diversification of the autophagy-related ubiquitin-like conjugation systems.

Two autophagy-related (ATG) ubiquitin-like conjugation systems, the ATG12 and ATG8 systems, play important roles in macroautophagy. While multiple duplications and losses of the ATG conjugation system proteins are found in different lineages, the extent to which the underlying systems diversified across eukaryotes is not fully understood. Here, in order to understand the evolution of the ATG conjugation systems, we constructed a transcriptome database consisting of 94 eukaryotic species covering major eukaryotic clades and systematically identified ATG conjugation system components.

Knockdown of circ-PRKCH alleviates IL-1β-treated chondrocyte cell phenotypic changes through modulating miR-502-5p/ADAMTS5 axis.

Background: Osteoarthritis (OA) is a common joint disease characterized by progressive cartilage degradation. Circular RNAs (circRNAs) are involved in the initiation and development of OA. This study aimed to explore the potential role and mechanism of circRNA protein kinase C eta (circ-PRKCH) in OA.

Association between variants around IRF6 and non-syndromic orofacial cleft in Western Han Chinese.

Objectives: Considering limitations of previous studies and differences across populations and subtypes, this study aimed to identify new potential SNPs around IRF6 associated with non-syndromic orofacial cleft (NSOC) in Western Han Chinese.

Materials And Methods: We recruited 376 NSOC case-parent trios, including 125 non-syndromic cleft lip only (NSCLO) trios, 151 non-syndromic cleft lip and palate (NSCLP) trios, and 100 non-syndromic cleft palate only (NSCPO) trios. Twenty-two single-nucleotide polymorphisms (SNPs) were genotyped using MassARRAY method.

The evolution of autophagy proteins - diversification in eukaryotes and potential ancestors in prokaryotes.

Autophagy is a degradative pathway for cytoplasmic constituents, and is conserved across eukaryotes. Autophagy-related (ATG) genes have undergone extensive multiplications and losses in different eukaryotic lineages, resulting in functional diversification and specialization. Notably, even though bacteria and archaea do not possess an autophagy pathway, they do harbor some remote homologs of Atg proteins, suggesting that preexisting proteins were recruited when the autophagy pathway developed during eukaryogenesis.