Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.

EP400 encodes a core catalytic ATPase subunit of ATP-dependent chromatin remodeling complexes. The gene-disease association of EP400 is undetermined. In this study, we performed trio-based whole-exome sequencing in a cohort of 402 families with epilepsy and neurodevelopmental disorders (NDDs) and identified compound heterozygous EP400 variants in six unrelated individuals.

Verapamil inhibits ferroptosis in septic acute lung injury by blocking L-type calcium channels.

Acute lung injury (ALI) and its severe form, acute respiratory distress syndrome (ARDS), result from pulmonary edema and alveolar-capillary barrier disruption due to inflammation, often triggered by conditions like sepsis. Sepsis-induced ALI (SALI) involves extensive damage to vascular endothelium and alveolar epithelium, leading to respiratory failure. Our study explores ferroptosis, an iron-dependent cell death pathway, and calcium dysregulation in SALI.

Preclinical study of TLR stimulation combined PD-1 antibody enhance the therapeutic effect of microwave ablation on NSCLC.

Purpose: The purpose of this study was to investigate the therapeutic efficacy of the combination of microwave ablation (MWA) with immune checkpoints blockade and TLR9 stimulation in the treatment of non-small cell lung cancer (NSCLC) using the C57BL/6 tumor-bearing mice model.

Materials And Methods: Tumor-bearing mice were treated with MWA, programmed cell death protein1 blockade (PD-1) plus MWA (MWA + P), TLR9 agonist CpG ODNs and MWA (MWA + C), PD-1 blockade and CpG ODNs (P + C), MWA plus PD-1 blockade and CpG ODNs (MWA + P + C), or untreated. Survival time was evaluated with the Kaplan-Meyer method comparing survival curves by log-rank test.

Association study of depressive symptoms and periodontitis in an obese population: Analysis based on NHANES data from 2009 to 2014.

Background: Obesity, depressive symptoms, and periodontitis are major worldwide health concerns. Despite separate studies on both illnesses, no research has directly examined the link between depressive symptoms and periodontitis in obese people. Given the close correlation between obesity and chronic illnesses, as well as the possibility of a bidirectional impact between depressive symptoms and periodontitis, this study aims to investigate the link between depressive symptoms and periodontitis in an obese population.

Prognostic and Immunologic Significance of SH2B2 in Colon Adenocarcinoma and its Relationship to Proliferation, Migration, and Invasion.

Background: SH2B adaptor protein 2 (SH2B2, also named APS) is an adaptor protein implicated in the modulation of insulin signaling pathways and glucose metabolism. Its role in colon adenocarcinoma (COAD) is unknown.

Methods: Data from The Cancer Genome Atlas and Gene Expression Omnibus database were utilized to assess SH2B2 expression and its clinical significance in COAD.

Impact of Dual Antithrombotic Therapy with Aspirin and Rivaroxaban on Secondary Cardiovascular Outcomes.

BACKGROUND Dual antiplatelet therapy is the main treatment for cardiovascular diseases (CADs). In this study, we evaluated the efficacy and safety of aspirin combined with low-dose rivaroxaban in the secondary prevention of high-risk ischemic cardiovascular diseases. MATERIAL AND METHODS In total, 168 patients who were diagnosed with acute myocardial infarction or multiple vessel disease 1 year after percutaneous coronary intervention were divided into 2 groups: the aspirin group (aspirin as acetylsalicylic acid: 100 mg once daily) and the aspirin + rivaroxaban group (aspirin: 100 mg once daily, rivaroxaban: 2.

Intra-articular injection of exosomes derived from different stem cells in animal models of osteoarthritis: a systematic review and meta- analysis.

Background: In recent years, the increasing incidence of osteoarthritis (OA) has attracted widespread public attention; however, the available effective treatments are limited. As a result, new therapeutic approaches, including stem cell and exosome therapies, have been proposed and are gradually gaining popularity. Because exosomes are immunocompatible, there is thought to be more potential for their use in clinical settings.

A novel role for protein disulfide isomerase ERp18 in venous thrombosis.

Background: Previous studies using genetically modified mouse models and inhibitors have shown that protein disulfide isomerase (PDI) family plays a significant role in arterial thrombosis. However, their role in venous thrombosis remains unknown. In this study, using gene-modified mouse models, we determined whether PDI family members contribute to venous thrombosis.

Leopard spot retinopathy represents the initial sign of rhegmatogenous retinal detachment in children: a report of two cases.

Background: Leopard spots can appear in a variety of diseases; however, they are extremely rare in children with rhegmatogenous retinal detachment. This study presents two such rare cases in which leopard spot retinopathy was the initial manifestation of rhegmatogenous retinal detachment.

Case Presentation: Case 1 involved a 4-year-old boy had previously been diagnosed with left eye uveitis and received systemic steroid therapy at a local hospital, but symptoms persisted.

Identification of 7-HOCA as a Potential Biomarker in Glioblastoma: Evidence from Genome-Wide Association Study and Clinical Validation.

Purpose: Glioblastoma (GBM) is associated with metabolic disturbances, yet the relationships between metabolites with GBM have not been comprehensively explored. This study aims to fill this gap by integrating Mendelian randomization (MR) analysis with clinical validation.

Patients And Methods: Summary data from genome-wide association study (GWAS) of cerebrospinal fluid (CSF) metabolites, plasma metabolites, and GBM were obtained separately.

Overexpression of endothelial S1pr2 promotes blood-brain barrier disruption via JNK/c-Jun/MMP-9 pathway after traumatic brain injury in both and models.

Objectives: The disruption of blood-brain barrier (BBB) is associated with poor outcomes of TBI patients. Sphingosine-1-phosphate receptor 2 (S1pr2), a member of the G protein-coupled receptor family, is involved in endothelial activation and the regulation of vascular integrity. We hypothesized that the inhibition of S1pr2 may alleviate BBB disruption and explored potential underlying molecular mechanisms.

Study of TRAF3IP3 for prognosis and immune infiltration in hepatocellular carcinoma.

Background: Tumor necrosis factor receptor-associated factor 3 (TRAF3)-interacting protein 3 (TRAF3IP3) expressed in various tumor cell. However, its role in hepatocellular carcinoma (HCC) was unclear. We aimed to demonstrate the relationship between TRAF3IP3 and HCC and explore the potential role of TRAF3IP3 in HCC.

CARM1-induced lncRNA NEAT1 synchronously activates MYCN and GalNAcT-I to accelerate the progression of neuroblastoma.

Purpose: Long non-coding RNAs (lncRNAs) play important roles in progression of neuroblastoma (NB). LncRNA nuclear paraspeckle assembly transcript 1 (NEAT1) has been shown to affect the development of multiple tumors. However, the effect of NEAT1 on NB remain unclear.

Randomized, Double-Blind, Placebo-Controlled Trial on the Efficacy, Safety and Tolerability of Modified-Release Methylphenidate (MPH-MR) in Chinese Children and Adolescents with Attention-Deficit/Hyperactivity Disorder (ADHD).

Background And Objectives: The efficacy and safety of modified-release methylphenidate (MPH-MR) in the treatment of attention-deficit/hyperactivity disorder (ADHD) have been shown in both pediatric and adult Caucasian patients. The objective of this study was to assess the efficacy and safety of MPH-MR in Chinese children and adolescents with ADHD.

Methods: MICCA was a randomized, double-blind, placebo-controlled trial conducted at 19 sites in China from September 2018 to July 2021.

Research hotspots and trends for Duchenne muscular dystrophy: a machine learning bibliometric analysis from 2004 to 2023.

Aims: The aim of this study was to conduct a bibliometric analysis of the relevant literature on Duchenne muscular dystrophy (DMD) to ascertain its current status, identify key areas of research and demonstrate the evolution of the field.

Methods: The analysis sourced documents from the Science Citation Index Expanded in the Web of Science core collection, utilizing CiteSpace software and an online bibliometric platform to analyze collaborative networks among authors, institutions and countries, and to map out the research landscape through journal and reference evaluations. Keyword analyses, including clustering and emergent term identification, were conducted, alongside the development of knowledge maps.

DCBLD1 Modulates Angiogenesis by Regulation of the VEGFR-2 Endocytosis in Endothelial Cells.

Background: Unwanted angiogenesis is involved in the progression of various malignant tumors and cardiovascular diseases, and the factors that regulate angiogenesis are potential therapeutic targets. We tested the hypothesis that DCBLD1 (discoidin, CUB, and LCCL domain-containing protein 1) is a coreceptor of VEGFR-2 (vascular endothelial growth factor receptor-2) and modulates angiogenesis in endothelial cells.

Methods: A carotid artery ligation model and retinal angiogenesis assay were used to study angiogenesis using globe knockout or endothelial cell-specific conditional knockout mice in vivo.

Clinical Efficacy and Safety of Vancomycin Based on Unbound Vancomycin Concentration Monitoring.

Objective: To monitor total trough concentration (Cmin_total) and unbound trough concentration (Cmin_free) of vancomycin in clinical samples and analyze the factors influencing them, and to assess their correlation with clinical efficacy and acute kidney injury (AKI).

Methods: Plasma samples were processed by protein precipitation, followed by hollow-fiber centrifugal ultrafiltration to separate unbound vancomycin from plasma. Thereafter, Cmin_total and Cmin_free were determined using high-performance liquid chromatography.

Role of COX6C and NDUFB3 in septic shock and stroke.

Background: Septic shock is a clinical syndrome characterized by acute circulatory disturbance. Stroke is an acute cerebrovascular disease caused by brain tissue damage. However, the relationship of COX6C and NDUFB3 to them is unclear.

Early neurological deterioration with severe headache as the initial manifestation: A case report.

Severe headache as the initial clinical manifestation of early neurological deterioration (END) is uncommon. The emergence of severe headache should be promptly recognized as a potential indicator of large vessel stenosis. Here, we describe a male patient who initially presented with severe headache accompanied by transient left limb weakness, which subsequently progressed to persistent weakness.

ResNet-Vision Transformer based MRI-endoscopy fusion model for predicting treatment response to neoadjuvant chemoradiotherapy in locally advanced rectal cancer: A multicenter study.

Background: Neoadjuvant chemoradiotherapy followed by radical surgery has been a common practice for patients with locally advanced rectal cancer, but the response rate varies among patients. This study aimed to develop a ResNet-Vision Transformer based magnetic resonance imaging (MRI)-endoscopy fusion model to precisely predict treatment response and provide personalized treatment.

Methods: In this multicenter study, 366 eligible patients who had undergone neoadjuvant chemoradiotherapy followed by radical surgery at eight Chinese tertiary hospitals between January 2017 and June 2024 were recruited, with 2928 pretreatment colonic endoscopic images and 366 pelvic MRI images.

Expert consensus on the off-label use in China of drugs for rare hematologic diseases (2024 edition).

Drug package inserts are a crucial foundation for clinical medication practices and serve as the legal basis for guiding rational drug use and ensuring patient safety and efficacy. As rare disease treatments evolve, current package inserts often need to meet the clinical requirements for treating such conditions, frequently resulting in off-label drug use. This consensus is derived from discussions between Guangdong Pharmaceutical Association Hematologic Rare Diseases Group experts.

MR study on white matter injury in patients with acute diquat poisoning.

Objective: To explore the microstructural damage of white matter in acute diquat (DQ) poisoning patients using diffusion kurtosis imaging (DKI) and Tract-based Spatial Statistics (TBSS).

Methods: This study included 19 DQ poisoning patients and 19 age-matched controls. MRI was performed using a 3.