Effect of growth hormone on bone density and body composition in Chinese patients with transitional growth hormone deficiency.

This study evaluated the effects of recombinant human growth hormone (rhGH) on bone mineral density (BMD) and body composition in Chinese adolescents with transitional growth hormone deficiency (TGHD). A prospective cohort study was conducted from September 2021 to September 2024, involving 37 TGHD patients (15-18 years) and 7 healthy controls. After a 3-month rhGH washout, 9 confirmed TGHD patients (diagnosed per 2019 AACE criteria) were stratified into treatment (n = 4, rhGH continuation) and non-treatment (n = 5) groups.

Unveiling the hidden impact: metabolomic changes in children undergoing VSD repair.

Background: We analyzed the perioperative metabolomic alterations in children undergoing ventricular septal defect (VSD) repair under cardiopulmonary bypass (CPB), identified evidence of postoperative injury, and explored strategies to mitigate such injuries.

Methods: We conducted an untargeted metabolomic analysis of serum at three distinct time points (preoperative (Tp), immediate postoperative (T0), and 24 h postoperative (T24)) in eight children undergoing VSD repair under CPB. Subsequently, we identified the key enzymes associated with perioperative injury for molecular docking prediction studies.

Generation of a human PBMC induced pluripotent stem cell line JXEYi001-A-iPSC from a pediatric patient with ventricular arrhythmias.

This study established an iPSC line, JXEYi001-A, from a 7-year-old male with a KCNJ2 mutation linked to ventricular arrhythmias (VA). KCNJ2 encodes Kir2.1, essential for cardiac repolarization; its mutations can cause short QT syndrome, increasing VA risk.

A Multicenter Study of Acute Abdomen in Children With Acute Lymphoblastic Leukemia: CCCG-ALL-2015.

Objective: Acute abdomen presents a significant challenge in the treatment of childhood acute lymphoblastic leukemia (ALL), potentially leading to treatment failure and treatment-related mortality. Results from the multicenter study of CCCG-ALL-2015 showed significant improvements in overall survival (OS) and event-free survival (EFS) for childhood ALL. However, the primary aim of this study was to determine the incidence, risk factors, and clinical impact of acute abdomen in the CCCG-ALL-2015 protocol, with the ultimate goal in the future of establishing evidence-based preventive strategies to reduce its occurrence.

Case report: A special case of pneumonia with a novel STAT3 mutation and Talaromyces marneffei infection.

Background: Talaromyces marneffei (TM) is an opportunistic pathogenic fungus, primarily reported in patients with congenital immune deficiencies. STAT3, a key molecule involved in fungal immune surveillance, plays a critical role in defense against fungal infections. Mutations in the STAT3 gene are associated with increased susceptibility to such infections.

WDR26-related Skraban-Deardorff syndrome: clinical, genetic and pathomechanistic insights.

WDR26 mutations have recently been linked to Skraban-Deardorff syndrome (SKDEAS). While most WDR26 variants are truncating and are expected to destabilize the protein, the impact of missense variants on protein stability remains unclear. To delineate the clinical and genetic characteristics of SKDEAS and elucidate its underlying pathomechanism, we report two novel WDR26 variants (p.

Risk factors and outcomes of asparaginase-associated pancreatitis in pediatric patients with ALL.

Asparaginase-associated pancreatitis (AAP) is a significant complication in acute lymphoblastic leukemia (ALL) therapy, often leading to treatment delays or discontinuation. This study aimed to identify AAP risk factors, assess outcomes after first and second episodes, and evaluate the impact of asparaginase rechallenge. We retrospectively analyzed 7,640 patients (aged 1 month-18 years) treated under the Chinese Children Cancer Group ALL 2015 protocol.

Bifidobacterium breve M-16V Alleviates Cow's Milk Allergy in a Mouse Model via Gut Microbiota-Derived Indole-3-Propionic Acid-Aryl Hydrocarbon Receptor Signaling Axis.

Background: Gut microbiota plays a crucial role in the development of food allergy (FA), and probiotic intervention is a promising therapeutic strategy targeting the gut microbiota. Previous investigations have reported that some Bifidobacterium species mitigate FA by regulating the microbial composition and metabolic functions. However, the key metabolites and potential mechanisms remain poorly understood.

Dynamic Multi-Image Weighting for Automated Detection and Diagnosis of Abnormal Urinary Tract on Voiding Cystourethrography with a Deep Learning System: A Retrospective, Large-Scale, Multicenter Study.

We aimed to develop a voiding cystourethrography (VCUG) diagnostic artificial intelligence model (VCUG-DAM), which relies on a novel architecture to automatically segment and diagnose the bladder, urethra, and ureters using a single VCUG image, while dynamically assessing the relative importance of each image. A total of 7,899 VCUG images from 1,660 patients across 15 Chinese hospitals were collected between 2021 and 2023. In stage 1, we assessed the performances of the VCUG-DAM model.

Nuclear Transport Receptor Importin-β Inhibition Enhances Cell Cycle Arrest Induced by CKS2 Knockdown to Suppress Neuroblastoma Progression.

Cyclin-dependent kinases regulatory subunit 2 (CKS2) is a key regulator of the cell cycle, but its role in neuroblastoma remains poorly understood. This study investigates the function and mechanisms of CKS2 in neuroblastoma through bioinformatics analyses, as well as in vitro and in vivo experiments. Data from the GEO and TCGA databases indicate that elevated CKS2 expression is associated with poor prognosis in neuroblastoma.

MeCP2 dysregulation inhibits mitophagy and impairs neural development in cortical organoids.

Introduction: Methylated CpG-binding protein 2 (MeCP2) plays a critical role in the normal development and function of the nervous system. Mutations in MeCP2 have been linked to neurodevelopmental disorders, potentially because of mitochondrial dysfunction and impaired mitophagy. However, the underlying mechanisms remain poorly understood.

Itaconate suppresses neonatal intestinal inflammation via metabolic reprogramming of M1 macrophage.

Background: Necrotizing enterocolitis (NEC) is a rapidly progressive and severe gastrointestinal disorder in neonates that is marked by an inflammatory cascade initiated by mechanisms that remain incompletely understood, resulting in intestinal necrosis and systemic infections. This study demonstrated that itaconate (ITA) exerts a protective effect in NEC by regulating macrophage reprogramming.

Methods: Changes in ITA expression were investigated using immunofluorescence staining and liquid chromatography-mass spectrometry, and their effect on immune cell differentiation was verified through single-cell sequencing.

Hashimoto's thyroiditis and nanophthalmos in Gabriele-de Vries syndrome: a case report.

Background: Gabriele-de Vries syndrome (GADEVS, OMIM 617557) is a rare autosomal dominant disorder caused by pathogenic variants in the YY1 gene. This report describes a case of GADEVS with concurrent Hashimoto's thyroiditis (HT) and nanophthalmos, a previously unreported association.

Case Presentation: We present a case of a 9-year-5-month-old girl who was admitted to the Pediatric Endocrinology Outpatient Clinic due to an asymptomatic neck lump and multiple malformations.

Cardiovascular safety of propranolol oral solution in infantile hemangiomas: a disproportionality analysis based on the FAERS database.

This study aims to explore the potential association between propranolol and cardiovascular adverse events (AEs) through real-world evidence. Reports from the FDA Adverse Event Reporting System (FAERS) database spanning from January 2014 to September 2024, identifying propranolol oral solution as the primary suspected (PS) drug, were analyzed. Disproportionality analysis employed four key metrics: Reporting Odds Ratio (ROR), Proportional Reporting Ratio (PRR), Bayesian Confidence Propagation Neural Network (BCPNN), and Multi-item Gamma-Poisson Shrinkage (MGPS) to identify positive signals of cardiovascular AEs potentially associated with propranolol oral solution.

Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

The spliceosome is a critical cellular machinery responsible for pre-mRNA splicing, essential for the proper expression of genes. Mutations in its core components are increasingly linked to neurodevelopmental disorders, such as primary microcephaly. Here, we investigated the role of SNW1, a spliceosomal protein, in splicing integrity and neurodevelopment.

M-16V alleviates cow's milk allergy by regulating the gut microbiota and metabolites in human microbiota-associated mice.

Cow's milk allergy (CMA) is one of the most common food allergies, especially in infants and young children. Growing evidence from animal studies has shown that some specific probiotics can alleviate CMA, but clinical evidence remains insufficient due to certain limitations. In the present study, we transplanted fecal material from three CMA children into antibiotic-pretreated mice (hum-CMA mice) to mimic the intestinal microecology of allergic individuals, followed by allergen sensitization and (.

Association of the pri-miR-34b/c rs4938723 T > C polymorphism with hepatoblastoma susceptibility in Eastern Chinese children: A five-center case-control study.

Background: Hepatoblastoma is the most prevalent liver cancer affecting children, and its intricate causes are closely linked to genetic variations. This study interrogated the influence of the miR-34b/c rs4938723 T > C polymorphism in hepatoblastoma predisposition in a Han Chinese children study population, comprising 193 cases and 773 controls from East China.

Methods: Genotyping was performed via the TaqMan technique.

Identification of a de Novo MARK2 gene variant in a patient with autism spectrum disorder, epilepsy, and neurodevelopmental delay.

Autism spectrum disorder (ASD) is a neurodevelopmental condition that is frequently accompanied by developmental delay and epilepsy. There is increasing evidence that genetic factors play a key role and that variations in the MARK2 gene are associated with neurodevelopmental disorders. Nevertheless, clinical reports associating MARK2 variants with human disease remain limited.

The role of the gut microbiota in shaping the tumor microenvironment and immunotherapy of breast cancer.

Breast cancer is the most prevalent malignancy among women worldwide and is a major contributor to cancer-related mortality. The tumor microenvironment (TME), composed of tumor cells, immune infiltrates, fibroblasts, and vascular components, is critically involved in tumor initiation, metastatic progression, and therapeutic response. In recent years, therapies targeting the TME have undergone rapid advancements, with the objective of enhancing antitumor immunity.

Systemic immune indicators for predicting renal damage in newly diagnosed type 1 diabetic children.

Background: Early kidney damage is a significant complication in children with newly diagnosed type 1 diabetes mellitus (T1DM). Systemic inflammation plays a key role in the development of diabetic nephropathy. Several inflammatory markers, including the systemic immune inflammation index (SII), neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR), have been proposed as potential indicators of diabetic complications.

Denticleless homolog-mediated ubiquitin-proteasome degradation of forkhead box O1 contributes to development of carboplatin resistance in retinoblastoma.

This study aimed to investigate the role of forkhead box O1 (FOXO1) in carboplatin-resistant retinoblastoma (RB) cells, focusing on its subcellular distribution and regulation through ubiquitin-dependent degradation mediated by denticleless homolog (DTL). The study sought to elucidate the molecular mechanisms underlying carboplatin resistance in RB and explore potential therapeutic strategies to overcome chemoresistance. Carboplatin-resistant RB cell lines (Y79/CBP and WERI-Rb-1/CBP) were established by incremental drug exposure.

AQP-4 autoantibodies as potential early diagnostic biomarkers for NEC.

Background: Necrotizing enterocolitis (NEC) is a severe intestinal disease in neonates. The study aims to identify aquaporin-4 (AQP-4) protein and its autoantibodies as potential biomarkers for early diagnosis of neonatal necrotizing enterocolitis.

Methods: A prospective cohort study was conducted.

[Research on the prevalence of overweight and obesity among children].

To investigate the prevalence and risk factors of overweight and obesity among Chinese children aged 3-18 years from 11 provinces, antonomous regions, or municipalities. This national cross-sectional community health survey utilized a multistage stratified cluster-random sampling method to recruit 193 997 nationally representative participants from 11 provinces, autonomous regions, or municipalities between January 2017 and December 2019. All participants underwent physical examinations, and their caregivers completed questionnaires assessing participants' dietary, lifestyle, familial, and perinatal information.

Low expression of miR-7-5p promotes resistance to radiotherapy in lung cancer through direct upregulation of PKP2 expression.

Lung cancer remains a significant global health challenge, with advanced stages often limiting surgical options and necessitating systemic therapies, such as radiotherapy. Resistance to radiotherapy frequently undermines the treatment efficacy. This study explored the role of miR-7-5p in modulating the expression and radiosensitivity of plakophilin-2 (PKP2) in non-small cell lung cancer (NSCLC).

Early detection of left atrial dysfunction in young hypertensive patients with a normal left atrial size: a comprehensive analysis using four-dimensional auto left atrial quantification echocardiography.

Background: This study aimed to detect early left atrial (LA) function abnormalities in young hypertensive patients with a normal two-dimensional LA volume index (2D-LAVI) using four-dimensional auto LA quantification technology (4D Auto LAQ) and to analyse correlations between LA strain parameters and clinical metabolic indicators.

Methods: This study enrolled 70 young patients who underwent standard hypertension treatment or diagnosis at the Second Affiliated Hospital, Jiangxi Medical College, Nanchang University, from October 2023 to July 2024 and 41 control volunteers enrolled during the same period. LA volume and strain parameters were evaluated with a 4D Auto LAQ.