A cohort of allogeneic hematopoietic stem cell transplantation for pediatric rare diseases (allo-HSCT-PRD): design and preliminary results.

Rare diseases in children have attracted widespread attention worldwide due to their rarity and difficulty in diagnosis and treatment. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is emerging as a promising and curable therapy for multiple rare diseases. However, rare disease research in China is relatively backward, prompting us to construct the first cohort of allo-HSCT for pediatric rare diseases (allo-HSCT-PRD) involving those who underwent allo-HSCT at the Children's Hospital of Fudan University from 1 January 2014 to 31 October 2024.

Alterations in EEG functional connectivity in preterm infants: A systematic review.

Objective: To synthesise current evidence on electroencephalography-based functional connectivity in preterm infants and clarify how prematurity alters early brain-network maturation.

Methods: A PRISMA-guided search (PubMed and Web of Science, inception-Mar 2025) identified 24 studies that quantified resting-state functional connectivity or graph-theory metrics in infants born <37 weeks' gestation. Study quality was rated with a six-item electroencephalography-functional connectivity checklist (reference montage, epoch length/number, artefact rejection, volume-conduction control, multiple-comparison correction).

Association between neutrophil-to-high-density lipoprotein cholesterol ratio (NHR) and psoriasis risk: a nationally representative cross-sectional study.

Objective: To investigate the association between the neutrophil-to-high-density lipoprotein cholesterol ratio (NHR) and the risk of psoriasis.

Methods: This cross-sectional study analyzed data from the National Health and Nutrition Examination Survey (NHANES) for the periods 2003-2006 and 2009-2014, including 21,723 adults aged ≥20 years. Weighted multivariable logistic regression models were used to examine the association between NHR and psoriasis, with stepwise adjustments for demographic, metabolic parameters, and comorbid factors.

Optical Genomic Mapping and Next-Generation Sequencing Identified Retrotransposon Insertion and Missense Variant Disrupting Gene in Dyskeratosis Congenita.

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by defects in telomere biology and clinical manifestations such as nail dystrophy, skin pigmentation abnormalities, and mucosal leukoplakia. Here, using whole exome sequencing (WES), whole genome sequencing (WGS), optical mapping sequencing (OGM), third-generation sequencing, and mRNA sequencing, we diagnosed a participant with gene complex compound heterozygous variants. In addition, protein structure simulation, immunohistochemistry, and western blot were conducted to investigate the structure and expression level of the PARN protein.

A Case of Measles Virus-caused Subacute Sclerosing Panencephalitis Diagnosed by Molecular and Clinical Analysis.

Subacute sclerosing panencephalitis (SSPE) is a rare and lethal neurodegenerative encephalitis caused by persistent measles virus infection. We report an SSPE case in a patient infected at 6 months old, diagnosed using clinical methods and metagenomic sequencing, highlighting the benefits of combining clinical and molecular techniques for improved diagnosis.

Analysis of the value of novel inflammatory indicators derived from complete blood count in predicting for pertussis in children.

Objective: Inflammatory indicators derived from complete blood count (CBC) have been shown to exhibit substantial clinical utility across a broad spectrum of infectious and inflammatory conditions, this study aimed to explore the potential value of CBC-derived inflammatory indicators in predicting for pertussis in children.

Methods: CBC parameters of all the participants included in this study were collected. The CBC-derived inflammatory indicators evaluated included the neutrophil-to-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR), platelet-to-lymphocyte ratio (PLR), [neutrophil + monocyte]-to-lymphocyte ratio (NMLR), systemic immune-inflammation index (SII), and systemic inflammatory response index (SIRI).

Environmental noise exposure and cardiovascular diseases in a Shanghai cohort.

Background: Little is known about the impact of environmental noise on cardiovascular diseases (CVDs) in low- and middle-income countries, where high population density and complex sources of noise are prevalent. This study aimed to explore associations of environmental noise with CVDs and cardiovascular risk factors.

Methods: 27,444 participants aged 18-74 years were included in this study.

Non-Viral Gene Delivery Systems: Current Advances and Therapeutic Applications.

Gene therapy holds immense potential for treating genetic disorders, malignancies, and infectious diseases through the targeted introduction, silencing, or precise editing of therapeutic genes. Although viral vectors exhibit exceptionally high gene transfection efficiency, their clinical application faces significant challenges, including robust immunogenicity, the insertional mutagenesis risks, complex and costly manufacturing processes hindering large-scale manufacturing, limited gene cargo capacity, and poor packaging efficiency for large genes. In contrast, nonviral vectors-such as lipid nanoparticles (LNPs), cationic polymers, and inorganic nanoparticles, offer numerous advantages, including superior safety profiles, the scalability for manufacturing, structural and functional reconfigurability in accommodating various sizes cargo.

Hypoxanthine Promotes Pulmonary Vascular Remodeling and Adenosine Deaminase Is a Therapeutic Target for Pulmonary Hypertension.

Uric acid metabolism is implicated in the pathogenesis of pulmonary arterial hypertension, wherein the key metabolite hypoxanthine exhibits elevated levels, thereby promoting pulmonary vascular remodeling through facilitation of cell proliferation and migration as well as regulation of adenosine triphosphate binding cassette transport signaling pathway. Consequently, therapeutic interventions targeting hypoxanthine synthesis may hold promise for the management of pulmonary arterial hypertension.

Assessment of Dysphagia in Chinese Cohort of Angelman Syndrome: An Observational Study.

Aims: This study aims to identify the prevalence and risk factors of dysphagia in a Chinese cohort of Angelman syndrome (AS).

Methods: A structured questionnaire was used to assess the status of patients in a Chinese cohort of AS. Swallowing function was evaluated using the Pediatric Eating Assessment Tool-10, with gastrointestinal symptoms quantified via the Six-item Gastrointestinal Severity Index (6-GSI).

Reg3β promotes chondrocyte proliferation and ECM metabolism during acetabular roof remodeling in a rat model of DDH‑induced residual dysplasia.

Residual acetabular dysplasia (RAD) is a common complication after the successful management of developmental dysplasia of the hip (DDH). RAD remodeling is important for predicting the outcome of the affected hip, and optimal treatment can be chosen accordingly. Regenerating islet‑derived protein 3‑β (Reg3β), a multifaceted cytokine, is a prognostic marker for inflammation and cardiac disease.

GPATCH3, a splicing regulator that facilitates tumor immune evasion via the modulation of ATPase activity of DHX15.

Introduction: Aberrant pre-mRNA splicing is increasingly recognized as a key contributor to tumorigenesis and immune evasion. However, the regulatory factors orchestrating splicing dynamics within the tumor microenvironment (TME) remain incompletely understood. Here, we identify GPATCH3, a previously uncharacterized G-patch domain-containing protein, as a critical modulator of alternative splicing and immune regulation in cancer.

Feasibility of laryngeal mask airway ventilation in selected pediatric pulmonary artery sling surgeries: a retrospective review.

Background: Pulmonary artery sling (PAS) is a rare congenital anomaly of the great vessels, often accompanied by tracheal stenosis and various intracardiac malformations. Traditionally, PAS surgeries have been performed using tracheal intubation and extracorporeal circulation. In 2015, our center began using laryngeal mask airway (LMA) ventilation combined with extracorporeal circulation to facilitate PAS surgeries.

Evaluating the effects of liraglutide, empagliflozin and linagliptin on mild cognitive impairment remission in patients with type 2 diabetes (LIGHT-MCI): study protocol for a multicentre, randomised controlled trial with an extension phase.

Introduction: Diabetes is a significant modifiable risk factor for cognitive dysfunction. There are currently no effective treatments that delay or reverse the progression of cognitive dysfunction. Accumulating evidence demonstrates that specific antidiabetes medications hold promise in improving cognitive function.

Desmoplastic small round cell tumor in children: Report of six cases.

Purpose: To study the clinical, pathological, and prognostic features of desmoplastic small round cell tumor (DSRCT).

Methods: Six DSRCTs were retrieved from the archives of the Department of Pathology at Children's Hospital of Fudan University. Clinical manifestations, radiologic characteristics, pathological features, and treatment methods were analyzed, and the postoperative status was evaluated at follow-up.

A novel mechanism involving USP53-regulated BSEP trafficking underlies low-GGT intrahepatic cholestasis.

Background And Aims: USP53 variants cause low-GGT progressive familial intrahepatic cholestasis (PFIC). The mechanism is not well understood. USP53, which encodes a ubiquitin-specific protease, has been proposed to be involved in blood-bile barrier impairment.

A neonatal rat model of progressive left ventricular pressure overload induced by abdominal aortic banding microsurgery.

Objective: Left ventricular pressure overload models using adult mice or rats were developed 60 years ago; however, a neonatal mouse model of left ventricular pressure overload was reported only 5 years ago. Moreover, how left ventricular pressure overload reshapes the neonatal left ventricle and how it affects cardiomyocyte proliferation remain largely unexplored. The aim of this study is to develop a simple neonatal rat model with clinical features matched to those of left ventricular pressure overload.

Prenatal particulate matter exposure and risk of bronchopulmonary dysplasia in very preterm infants: a retrospective cohort study.

Objectives: To investigate the associations between maternal fine particulate matter (PM) and PM<10 µm in aerodynamic diameter (PM) exposure during pregnancy and bronchopulmonary dysplasia (BPD) incidence in very preterm infants (VPIs, gestational age (GA)<32 weeks), with emphasis on trimester-specific susceptibility and effect modification by clinical and environmental factors.

Design: Retrospective observational cohort study.

Setting: A tertiary neonatal intensive care unit in China, 2016-2022.

Fasting-mimicking diet enhances EGFR-TKI efficacy in oral cancer through dual mechanisms: direct cancer cell sensitization and tumor-associated macrophage crosstalk.

Background: Emerging evidence suggests the fasting-mimicking diet (FMD) offers a promising alternative to traditional calorie restriction and intermittent fasting, mitigating associated adverse effects including cachexia. Clinical trials have demonstrated the safety and efficacy of FMD, highlighting its considerable potential for translational applications. Future research should focus on assessing with molecularly targeted therapies to enhance therapeutic outcomes.

Predictive Role of Fixation Stability for Clinical Stages and Conversion in Schizophrenia and Its Correlation with Cognitive Function.

Background And Hypothesis: Given that fixation stability is closely linked to cognition, we investigated fixation stability in patients at different stages of schizophrenia, its relationship with cognitive impairments, and its predictive role for conversion to psychosis.

Study Design: Fixation stability was measured by bivariate contour ellipse area (BCEA), and cognition was assessed by the Measurement and Treatment Research to Improve Cognition in Schizophrenia Consensus Cognitive Battery for 75 patients with first-episode schizophrenia (FES), 75 patients with clinical high-risk (CHR) syndrome, and 75 healthy controls (HCs). After a 1-year longitudinal study, CHR follow-up outcomes were classified as CHR-converters and CHR-nonconverters.

Clinical practice guidelines for rituximab treatment in children with steroid-sensitive nephrotic syndrome.

Background: Steroid-sensitive nephrotic syndrome is a prevalent glomerular disease in children. The 2021 guidelines for glomerular disease management by Kidney Disease: Improving Global Outcomes and the 2023 recommendations for steroid-sensitive nephrotic syndrome management by International Pediatric Nephrology Association recommend rituximab for frequently relapsing nephrotic syndrome and steroid-dependent nephrotic syndrome in children. However, there is considerable variation in rituximab application, including administration timing, dose, frequency, concomitant medications, and follow-up schedules.

Does the combination of cartoon stickers and fruit juices reduce premedication anxiety in preschool children?-a randomized controlled trial.

Background: Perioperative anxiety affects 40-75% of children undergoing surgery, risking complications. Midazolam (0.5 mg/kg) is commonly used but poorly tolerated due to bitterness.

Knockdown of Long Noncoding RNA IPCRL1 Mitigates Myocardial Ischemia/Reperfusion Injury via miR-185-3p/JIP3 Axis and JNK Pathway.

Purpose: Myocardial ischemia/reperfusion injury (MIRI) represents a significant culprit leading to adverse consequences after cardiac surgery. This study aims to clarify the function and related pathway of ischemic preconditioning related lncRNA-1 (IPCRL1) in MIRI.

Methods: MIRI model was established in C57BL/6J mice via the myocardial reperfusion method, and hypoxia/reoxygenation (H/R) model was constructed using HL-1 cell.

Degradation of IRF6 by TRIM59 in tumor cells triggers PGM1-mediated glycolysis to regulate cell proliferation in neuroblastoma.

Neuroblastoma is the most common extracranial malignancy in children, and patients who develop recurrent or metastatic disease are likely to have a much poorer survival prognosis. Herein, by applying random forest and XGBoost machine-learning techniques, we identified interferon regulatory factor (IRF) 6 as the most crucial gene associated with neuroblastoma patient survival. Low IRF6 expression was further determined to be associated with dismal survival in neuroblastoma patients.