Unveiling the Pathogenic Role of Novel CPLANE1 Compound Heterozygous Variants in Joubert Syndrome: Insights Into mRNA Stability and NMD Pathway.

Joubert syndrome (JS) is a rare neurodevelopmental disorder associated with mutations in genes involved in ciliary function. Germline variants in CPLANE1 have been implicated in JS. In this study, we investigated a family with three adverse pregnancies characterised by fetal malformations consistent with JS.

Agreement analysis of subjective and objective sleep quality in adolescents with mood disorders.

Objectives: Accurate assessment of sleep quality is crucial for understanding sleep problems and their impact on health. This study analyzed the agreement between subjective sleep assessments and objective sleep monitoring in adolescents with mood disorders, aiming to provide a reliable methodological foundation for related research.

Methods: Adolescents with mood disorders were recruited from psychiatric outpatient clinics of three domestic hospitals.

Association of occupational noise exposure and shift work with non-alcoholic fatty liver disease: a cross-sectional study of male workers in the Chinese automobile manufacturing industry.

Objective: This study aimed to determine the relationship between occupational noise, shift work and non-alcoholic fatty liver disease (NAFLD) in male workers in the automobile manufacturing industry.

Design: Cross-sectional study.

Setting: This study was carried out at the Guangzhou Twelfth People's Hospital using data from April to September 2022.

Galectin-3 activates microglia and promotes neurological impairment via NLRP3/pyroptosis pathway following traumatic brain injury.

Background: Externally caused traumatic brain injury (TBI) poses a woeful worldwide health concern, bringing about disability, death, and prolonged neurological impairment. Increased galectin-3 levels have been linked to unfavorable outcomes in several neurological conditions. This study explores the role of galectin-3 in TBI, specifically examining its contribution to neuroinflammation.

Distribution and potential sources of iodine in particulate matter at an industrial city in Northwest China.

Iodine plays a key role in atmospheric chemistry that can significantly affect the atmospheric oxidation capacity. Although the oceans are the main reservoir of iodine on Earth, iodine is also widely present in the terrestrial environment. Therefore, a comprehensive understanding of the present sources of iodine in inland areas is warranted for the evaluation of its environmental effect.

Heme metabolism mediates RANKL-induced osteoclastogenesis via mitochondrial oxidative phosphorylation.

Bone undergoes life-long remodelling, in which disorders of bone remodelling could occur in many pathological conditions including osteoporosis. Understanding the cellular metabolism of osteoclasts is key to developing new treatments for osteoporosis, a disease that affects over 200 million women worldwide per annum. We found that human osteoclast differentiation from peripheral blood mononuclear cells (PBMCs) derived from 8 female patients is featured with a distinct gene expression profile of mitochondrial biogenesis.

TGFβ-activated Asporin interacts with STMN1 to promote prostate cancer docetaxel chemoresistance and metastasis by upregulating the Wnt/β-catenin signaling pathway.

Aims: Prostate cancer (PCa) remains a significant challenge in oncology due to high rates of drug resistance following standard treatment with docetaxel-based chemotherapy. Asporin (ASPN) has been regarded as an oncogene and its upregulation is closely associated with malignant behavior and poor prognosis in multiple cancers. Studies indicated that abnormal activation of the Wnt/β-catenin signaling pathway is prevalent in PCa.

An efficient approach to probe bioactive components of herbal patches by 2D-carbon microfiber fractionation and multi-chamber membrane separation electrophoresis: Spatholobus suberectus Dunn as a case.

Herbal patches are widely used in clinics for their good curative effects. However, due to the complexity of plant matrices and the extremely low content of transdermal components, the individuation of their effective bioactive compounds represents a challenge: there is then a great need for an efficient method to reveal the bioactive ingredients of herbal patches. In this work, a wide-screening approach is proposed to an individuation of transdermal bioactive components in herbal patches obtained by Spatholobus suberectus Dunn (S.

Molecular Engineering of a SICTERS Small Molecule with Superior Raman Imaging and Photothermal Performance.

Raman-based theranostics has demonstrated great potential for sensitive real-time imaging and treatment. However, these advanced materials, primarily depending on the SERS technique, encounter clinical concerns regarding substrate biosafety. Herein, we molecularly engineered a substrate-free SICTERS small molecule, namely BTT-TPA (bis-thienyl-substituted benzotriazole selenadiazole derivative structures), possessing both ultrasensitive Raman signals and excellent photothermal effects based on self-stacking.

Nomogram predicts risk score and likehood of orchiectomy in patients with testicular torsion: a multicenter retrospective study.

Purpose: Testicular torsion is a prevalent scrotal emergency associated with a significant risk of testicular loss, and there is no reliable scoring system available to assess the likelihood of orchiectomy following testicular torsion.

Methods: Clinical characteristics and surgical data of patients with testicular torsion from January 2015 to May 2024 were gathered from National Center for Children's Health (NCCH) and the Children's Hospital of Capital Institute of Pediatrics (CIPCH). Independent risk variables for testicular resection were evaluated by logistic regression analyses, leading to the establishment of a nomogram.

Clinical characterization of diseases associated with anti-N-methyl-D-aspartate receptor encephalitis combined with anti-myelin oligodendrocyte glycoprotein antibodies in adults.

Objective: The aim of this study was to analyze the clinical characteristics of adult patients with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis combined with anti-myelin oligodendrocyte glycoprotein (MOG) antibodies.

Methods: This was a non-randomized controlled study. Clinical data were collected from 17 patients with anti-NMDAR encephalitis combined with anti-MOG antibodies admitted to Xuanwu Hospital, Capital Medical University, from January 2020 to August 2024.

Long noncoding RNA MATN1-AS1 contributes to oxaliplatin resistance of gastric cancer cells through miR-518b/ZNF281 axis.

Chemoresistance leads to poor outcomes of patients with gastric cancer (GC). Long non-coding RNAs (lncRNAs) have been demonstrated as novel gene modulators in various carcinomas and chemoresistance. Our study aimed to investigate the role and underlying modulatory mechanism of lncRNA MATN1-AS1 in GC chemoresistance.

Magnetically targeted delivery of probiotics for controlled residence and accumulation in the intestine.

The effectiveness of orally delivered probiotics in treating gastrointestinal diseases is restricted by inadequate gut retention. In this study, we present a magnetically controlled strategy for probiotic delivery, which enables controlled accumulation and residence of probiotics in the intestine. The magnetically controlled probiotic is established by attaching amino-modified iron oxide (FeO-NH NPs) to polydopamine-coated GG (LGG@P) through electrostatic self-assembly and named as LGG@P@FeO.

Prognostic Impact of Fluorescent Lymphography on Gastric Cancer After Neoadjuvant Chemotherapy.

Importance: Indocyanine green (ICG)-guided lymphadenectomy has been increasingly used to treat gastric cancer. However, its oncologic impact remains unclear.

Objective: To investigate the effect of ICG tracing on long-term outcomes in patients diagnosed with locally advanced gastric cancer undergoing neoadjuvant chemotherapy (NAC) followed by laparoscopic radical gastrectomy.

Cellular Senescence in the Regenerative Niche Hampers Skeletal Muscle Repair.

With the growing interest in skeletal muscle diseases, understanding the processes, factors, and treatments associated with muscle regeneration is crucial. Skeletal muscle regeneration is a complex process that largely depends on the niche composed of cell populations, such as satellite cells, and their microenvironment. Cellular senescence is associated with various physiological processes and age-related diseases and plays a significant role in the muscle regeneration niche.

Exploring the Dual Nature of Integrated Crop-Livestock Systems: A Review of Environmental Benefits and Risk Challenges.

Integrated crop-livestock systems (ICLS) are acknowledged as both productive and environmentally sustainable, with notable potential to optimize resource use, enhance ecosystem services, and boost crop yields. However, manure application, a critical component of ICLS, may amplify negative environmental impacts, particularly the risks associated with emerging pollutants, which remain underexplored and insufficiently understood. This comprehensive review seeks to thoroughly evaluate the environmental benefits of ICLS.

Linear Model for Concentration Measurement of Mixed Gases.

Electronic noses have been widely used in industrial production, food preservation, agricultural product storage, environmental monitoring, and other fields. However, due to the cross-sensitivity of gas-sensing responses, accurately measuring the concentration of mixed gases remains challenging. To address this issue, this study attempts to determine the number of state variables that produce the cross-influence based on the experimental data, establish the state space model from the equivalent circuit model, and obtain model parameters through parameter correlation iterative algorithms and a Kalman filter.

Modified FeO Nanoparticles for Foam Stabilization: Mechanisms and Applications for Enhanced Oil Recovery.

Nanoparticles (NPs) have shown great potential in stabilizing foam for enhanced oil recovery (EOR). However, conventional NPs are difficult to recover and may contaminate produced oil, increasing operational costs. In contrast, superparamagnetic FeO NPs can be efficiently recovered using external magnetic fields, offering a sustainable solution for foam stabilization.

Caki-1 Spheroids as a Renal Model for Studying Free Fatty Acid-Induced Lipotoxicity.

Lipotoxicity, resulting from the buildup of excess lipids in non-adipose tissues, is increasingly recognized as a major contributor to the progression of kidney disease, highlighting the need for alternative models to assess its effects on renal cells. The main aim of this study was to investigate the usefulness of Caki-1, a human proximal tubule (PT) and renal cell carcinoma (RCC) representative cell line, as a 3D model system for studying free fatty acid-induced PT lipotoxicity. Caki-1 spheroids were generated and maintained on ultra-low attachment plates and characterized regarding time-dependent morphology changes.

Continuous R-DA-EDOCH alternated with high-dose Ara-C induces deep remission and overcomes high-risk factors in young patients with newly diagnosed mantle cell lymphoma.

Objective: Our previous studies have indicated potentially higher proliferative activity of tumor cells in Chinese patients with mantle-cell lymphoma (MCL) than those in Western. Given the success and tolerability of R-DA-EDOCH immunochemotherapy in treating aggressive B-cell lymphomas, we designed a prospective, phase 3 trial to explore the efficacy and safety of alternating R-DA-EDOCH/R-DHAP induction therapy for young patients with newly diagnosed MCL. The primary endpoint was the complete remission rate (CRR) at the end of induction (EOI).

The GP2a 91/97/98 amino acid substitutions play critical roles in determining PRRSV tropism and infectivity but do not affect immune responses.

Unlabelled: Porcine reproductive and respiratory syndrome virus (PRRSV) isolates share a restricted cellular tropism. Marc-145 cells derived from African green monkey are one of the few cell lines supporting PRRSV propagation and are commonly used for PRRS vaccine development. However, currently prevalent PRRSV isolates display different Marc-145 cell tropism while the exact determinant is not clarified yet.

Self-Driven High-Performance Gate-Voltage-Tunable and Enhanced Performance Optoelectronic Device Based on FePS/MoS Heterojunctions.

The van der Waals heterojunctions are crucial for the development of next-generation high-performance optoelectronic devices due to their high-quality interface. In this study, FePS/MoS van der Waals heterojunctions were fabricated, and their electronic and optoelectronic properties were investigated. The devices demonstrated typical rectification behavior, characterized by a low rectification ratio and electron-dominated conductivity.

Fine-tuning of Wnt signaling by RNA surveillance factor Smg5 in the mouse craniofacial development.

The specific roles of nonsense-mediated mRNA decay (NMD), a translation-dependent RNA quality control mechanism that degrades mRNAs containing premature termination codons (PTCs), in mammalian craniofacial development have remained unclear. Here, we show that knockout of the essential NMD factor in mouse craniofacial neural crest cells leads to hypoplastic mandibles, subsequently inducing tongue mispositioning and cleft palate formation. Furthermore, loss triggers massive cell apoptosis and disrupts cell differentiation, accompanied by widespread alterations in alternative splicing and a surge in PTC-containing mRNA levels.

Ferritinophagy: multifaceted roles and potential therapeutic strategies in liver diseases.

Ferritinophagy, the selective autophagic degradation of ferritin to release iron, is emerging as a critical regulator of iron homeostasis and a key player in the pathogenesis of various liver diseases. This review comprehensively examines the mechanisms, regulation, and multifaceted roles of ferritinophagy in liver health and disease. Ferritinophagy is intricately regulated by several factors, including Nuclear Receptor Coactivator 4 (NCOA4), Iron regulatory proteins and signaling pathways such as mTOR and AMPK.

Genome-wide characterization and expression profiling of the gene family in sweet orange () reveal responses to multiple phytohormones and abiotic stresses.

Citrus is widely recognized as one of the most economically important fruit crops worldwide. However, citrus growth is frequently hindered by external environmental stresses, which severely limit its development and yield. The TGA (TGACG motif-binding factor) transcription factors (TFs) are members of the bZIP family and play essential roles in plant defense responses and organ development.