Identifying the Pathogenicity of a Novel NPRL3 Missense Mutation Using Personalized Cortical Organoid Model of Focal Cortical Dysplasia.

Focal cortical dysplasia (FCD) II is a cortical malformation characterized by cortical architectural abnormalities, dysmorphic neurons, with or without balloon cells. Here, we systematically explored the pathophysiological role of the GATOR1 subunit NPRL3 variants including a novel mutation from iPSCs derived from one FCD II patient. Three FCD II children aged 0.

TFEB Phase Separation Mediates the Amelioration Effect of Intermittent Fasting on Inflammatory Colitis.

Intermittent fasting (IF) has been shown to ameliorate inflammation including DSS-induced colitis. It is well known that autophagy can limit inflammation and TFEB is a master transcriptional factor that regulates the processes of autophagy. However, whether TFEB is involved in the regulation of IF-mediated amelioration of inflammation and its mechanism remained unclear.

Mechanically Robust, Superlubricating and Antifouling Bilayer Nanocoating for Micro-Bioimplants via a Dual-Function Metal Coordination Approach.

Nanometer-thick ultrathin coatings with superior mechanical strength and desirable lubricating and antifouling performance are critical for the miniaturization of implantable medical devices. However, integrating these properties at the nanoscale remains challenging due to the inherent trade-off between mechanical strength and hydration as well as limitations in coating thickness. In this work, we address these challenges by employing dual-function metal coordination to construct a ∼25 nm thick bilayer structure.

Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.

Newborn congenital hypothyroidism (CH) screening has been widely used worldwide. The objective of this study was to evaluate the effectiveness of applying biochemical and gene panel sequencing as screening tests for CH and to analyze the mutation spectrum of CH in China. Newborns were prospectively recruited from eight hospitals in China between February and December 2021.

Application value of personalized 3D printing vaginal model for the Image-guided adaptive brachytherapy of cervical cancer.

Objective: To explore the application value of using 3-dimensional (3D) printing (3DP) technology to create individualized vaginal molds for brachytherapy (BT) in high-dose-rate 3D cervical cancer through reverse engineering of needle placement.

Methods: Prospectively, 11 patients with cervical cancer were treated with 3DP-intracavitary/interstitial (IC/IS) BT using 3DP to create individualized vaginal molds. All patients were performed BT after completion of external beam radiotherapy (EBRT).

Advances in the management of arteriosclerosis of the lower extremity: Integrating Western and Chinese medicine approaches.

This editorial provides a commentary on the recent article. The paper reviews current literature and explores innovative treatment strategies for lower extremity arteriosclerosis obliterans (LEASO) through an integrative approach. It highlights the effectiveness of combination therapies that merge traditional Chinese medicine (TCM) with Western medical practices, suggesting that such integrative methods may improve patient compliance and outcomes through personalized care.

Association of maternal dietary cholesterol intake during the second and third trimesters of pregnancy and blood glucose and pregnancy outcome in women with gestational diabetes mellitus: a prospective cohort study.

Background: Cholesterol is essential for pregnant women to maintain maternal health and fetal support development. This study aimed to assess the cholesterol intake of women with gestational diabetes mellitus (GDM) during the second and third trimesters of pregnancy and to explore its effects on blood glucose and pregnancy outcomes.

Methods: This prospective cohort study collected dietary data using a food frequency questionnaire (FFQ) administered during the 24-30 gestational weeks (first survey) and the 34-42 gestational weeks (second survey).

Influence of inhaled nitric oxide on bronchopulmonary dysplasia in preterm infants with PPHN or HRF at birth: a propensity score matched study.

Background: Bronchopulmonary Dysplasia (BPD) is a chronic lung disease affecting preterm infants, with limited prevention and treatment options. Inhaled Nitric Oxide (iNO) is sometimes used to treat Persistent Pulmonary Hypertension of the Newborn (PPHN) and Hypoxemic Respiratory Failure (HRF), and its impact on BPD development remains debated.

Objective: To assess whether iNO-related factors are potential contributors to the development of BPD Grade Ⅱ-Ⅲ in very premature infants (VPI) diagnosed with PPHN or HRF at birth using Propensity Score Matching (PSM).

Dosimetric comparison and evaluation of different convergence modes in nasopharyngeal carcinoma using VMAT treatment deliveries.

Background: This study investigates the impact of convergence mode (CM) in Eclipse (Varian Medical Systems) on the quality and complexity of volumetric modulated arc therapy (VMAT) plans for nasopharyngeal carcinoma (NPC) patients.

Methods: We retrospectively analyzed data from 21 NPC patients. For each patient, three VMAT plans with different CM settings (Off, On, and Extended) were created using identical optimization objectives.

Proteome-Wide Mendelian Randomization Analysis to Identify Potential Plasma Biomarkers and Therapeutic Targets for Epithelial Ovarian Cancer Subtypes.

Background: Epithelial ovarian cancer (EOC) remains an unmet medical challenge due to its insidious onset, atypical symptoms, and increasing resistance to conventional chemotherapeutic agents. It is imperative to explore novel biomarkers and generate innovative target drugs.

Methods: To identify potential proteins with causal association to EOC subtypes, we conducted a Mendelian Randomization (MR) analysis using 15,419 protein quantitative trait loci (pQTLs) associated with 2015 proteins.

Impact of vancomycin therapeutic drug monitoring on mortality in sepsis patients across different age groups: a propensity score-matched retrospective cohort study.

Background: Due to its potent antibacterial activity, vancomycin is widely used in the treatment of sepsis. Therapeutic drug monitoring (TDM) can optimize personalized vancomycin dosing regimens, enhancing therapeutic efficacy and minimizing nephrotoxic risk, thereby potentially improving patient outcomes. However, it remains uncertain whether TDM affects the mortality rate among sepsis patients or whether age plays a role in this outcome.

Prevalence of falls and associations with family functioning among community-dwelling older adults in Guangzhou, China.

Introduction: Falls are the primary cause of unintentional fatalities among individuals aged 65 and older. Enhancing research on fall prevention among older adults is an urgent priority. Consequently, this study aims to investigate the prevalence and influencing factors of falls among community-dwelling older adults in Guangzhou, China, with a particular emphasis on the impact of family functioning.

Advances of NAT10 in diseases: insights from dual properties as protein and RNA acetyltransferase.

N-acetyltransferase 10 (NAT10) is a member of the Gcn5-related N-acetyltransferase (GNAT) family and it plays a crucial role in various cellular processes, such as regulation of cell mitosis, post-DNA damage response, autophagy and apoptosis regulation, ribosome biogenesis, RNA modification, and other related pathways through its intrinsic protein acetyltransferase and RNA acetyltransferase activities. Moreover, NAT10 is closely associated with the pathogenesis of tumors, Hutchinson-Gilford progeria syndrome (HGPS), systemic lupus erythematosus, pulmonary fibrosis, depression and host-pathogen interactions. In recent years, mRNA acetylation has emerged as a prominent focus of research due to its pivotal role in regulating RNA stability and translation.

[Clinical characteristics and prognosis of children with T-lineage acute lymphoblastic leukemia: a single-center study].

Objectives: To study the clinical characteristics and prognosis of T-lineage acute lymphoblastic leukemia (T-ALL) and related prognostic factors.

Methods: A retrospective analysis was conducted on the children with T-ALL who were treated with the Chinese Children's Cancer Group Acute Lymphoblastic Leukemia (CCCG-ALL) regimen in Guangzhou Women and Children's Medical Center between April 2015 and December 2022.

Results: A total of 80 children were included, with a median age of 7 years and 3 months and a male/female ratio of 6:1.

Remimazolam alleviates sleep deprivation induced anxiety-like behaviors via regulating the STING pathway.

Sleep loss becomes a major problem in modern life and increases the incidence of anxiety disorders. Benzodiazepines are the most commonly used anxiolytic medications. Remimazolam is an ultra-short-acting benzodiazepine, which has been shown to reduce the preoperative anxiety levels in patients.

m6A demethylation of NNMT in CAFs promotes gastric cancer progression by enhancing macrophage M2 polarization.

Cancer associated fibroblasts (CAFs) are the predominant stromal cells in the tumor microenvironment of gastric cancer (GC), interacting with both immune and tumor cells to drive cancer progression. However, the precise link between these interactions and their potential as therapeutic targets remains poorly understood. In this study, we identified for the first time that nicotinamide N-methyltransferase (NNMT) derived from CAFs promoted M2 macrophage polarization, which, in turn, facilitated the proliferation and migration of GC cells.

Performance of a novel viral load assay for plasma HIV-1 RNA quantification compared with Roche real time PCR in China.

The aim of this study was to compare the Sansure HIV-1 VL assay with the Roche Cobas HIV-1 assay in the quantitation of HIV-1 VL and evaluate its application in China. We collected plasma samples from patients infected with HIV-1 or interference patients infected with other viruses. The same samples were subsequently tested using the Sansure HIV-1 VL and Roche Cobas HIV-1 VL assays.

MOF-Based Biomimetic Enzyme Microrobots for Efficient Detection of Total Antioxidant Capacity of Fruits and Vegetables.

Green and efficient total antioxidant capacity (TAC) detection is significant for healthy diet and disease prevention. This work first proposed the concept of TAC colorimetric detection based on microrobots. A novel metal-organic framework (MOF)-based biomimetic enzyme microrobot (MIL-88A@FeO) is developed that can efficiently and accurately detect the TAC of real fruits and vegetables.

Gender Differences in Dendritic Damage, Gut Microbiota Dysbiosis, and Cognitive Impairment During Aging Processes.

Background: Cognitive impairment is a common and feared characteristic of aging processes, and one key mechanism of cognition is hippocampal synaptic structure. Previous studies have reported that gut microbiota dysbiosis occurred in neurodegenerative diseases and other brain disorders with cognitive impairment. However, it is not clear how gender differences affect cognitive impairment in aging processes and whether they affect synaptic structure and gut microbiota.

Analgesic effect of Dahuang Fuzi Decoction in neuropathic pain through inhibiting TNF-α and PI3K-AKT signaling.

Background: Neuropathic pain (NeP) presents considerable challenges in terms of effective management and significantly impacts the quality of life for affected patients. The current treatment options for NeP are limited, highlighting the need for alternative therapeutic approaches. Dahuang Fuzi Decoction (DF), a formula from traditional Chinese medicine, has shown potential in relieving pain symptoms associated with various types of NeP.

Respiratory Physiological Reactions During Expiratory Muscle Training in Patients with Stable Severe Chronic Obstructive Pulmonary Disease (COPD).

Object: This study aimed to investigate the physiological responses of patients with severe Chronic Obstructive Pulmonary Disease (COPD) during incremental expiratory resistive loading (ERL).

Method: Nine stable subjects with very severe COPD and hypercapnia were recruited. Baseline data were collected through spontaneous breathing for 10 minutes without resistive load.

Orchestrated desaturation reprogramming from stearoyl-CoA desaturase to fatty acid desaturase 2 in cancer epithelial-mesenchymal transition and metastasis.

Background: Adaptative desaturation in fatty acid (FA) is an emerging hallmark of cancer metabolic plasticity. Desaturases such as stearoyl-CoA desaturase (SCD) and fatty acid desaturase 2 (FADS2) have been implicated in multiple cancers, and their dominant and compensatory effects have recently been highlighted. However, how tumors initiate and sustain their self-sufficient FA desaturation to maintain phenotypic transition remains elusive.