Efficacy and safety of perampanel monotherapy in Chinese children with newly diagnosed focal epilepsy: a single-center prospective study
Focal epilepsy is the most common type of epilepsy in children. Antiseizure medications (ASMs) are the main treatment for focal epilepsy at present. Perampanel (PER), as a competitive antagonist of α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid of glutamate receptor, have been used for treatment for focal epilepsy in children in western countries. The purpose of our research was to evaluate the efficacy and safety of PER monotherapy in children (aged 2-12 years) with newly diagnosed focal epilepsy in China.
A predictive model for low bone mass in pediatric and adolescent patients with transfusion-dependent beta-thalassemia
Patients with transfusion-dependent beta-thalassemia (TDT) frequently experience osteoporosis, and low bone mass (LBM) is particularly common. However, there is no accurate predictive model for LBM risk in the pediatric and adolescent TDT cohort. This study aimed to create a predictive model to assess LBM risk in this specific population.
Pediatric cholelithiasis: a comprehensive analysis of clinical characteristics and surgical treatment strategies
Pediatric cholelithiasis is a biliary system calculus resulting from complex pathogenesis, which is a significant public health issue affecting children's health. This study aimed to analyze the clinical characteristics of pediatric cholelithiasis, including demographic characteristics, primary diseases, symptoms, and imaging features, then investigated the treatment strategies and effects of different types of cholelithiasis.
Clinical characteristics and risk factors for imaging abnormalities in pediatric Group B Streptococcus meningitis: a multicenter study
Intracranial imaging abnormalities are highly prevalent in children with Group B Streptococcus (GBS) meningitis and are closely associated with disease severity and prognosis. This highlights the importance of investigating the clinical features of GBS meningitis and the risk factors for imaging abnormalities. This study aimed to identify the risk factors for imaging abnormalities in children with GBS meningitis, thereby providing a basis for the early identification of high-risk patients.
Ewing's sarcoma family of tumors in adolescents in Beijing 2010-2019: a multicenter retrospective cohort study
Ewing's sarcoma family of tumors (ESFTs) comprises a group of aggressive malignancies predominantly affecting children and adolescents. This study aimed to evaluate the clinical characteristics, treatment outcomes, and prognostic factors in adolescent patients with ESFTs.
Temporal trends in cross-country inequalities of neuroblastoma burden in children under 14 years of age from 1990 to 2021
Neuroblastoma is the most prevalent extracranial solid tumor in children. This study aims to assess the global burden of neuroblastoma in 2021.
Efficacy and safety of dabrafenib-targeted therapy for pediatric langerhans cell histiocytosis: a systematic review and meta-analysis
The presence of gene mutations and the treatment with targeted drugs in Langerhans cell histiocytosis (LCH) patients have changed the LCH treatment paradigm and greatly improved the prognosis of LCH patients. Nevertheless, a unified standard for the application dose and discontinuation time of targeted drugs in children has not been established. We collated data from clinical trials and studies for pediatric LCH to provide a more robust understanding of dabrafenib's therapeutic potential and associated adverse events (AEs).
Clinical characteristics and risk factor analysis of children with severe pneumonia complicated by plastic bronchitis
Severe pneumonia (SMPP) can be complicated by plastic bronchitis (PB), posing a serious threat to children's health. Early identification of PB is crucial. This study aimed to clarify the clinical characteristics and independent risk factors for PB in children with SMPP, to facilitate early clinical recognition.
Machine learning models based on chest computed tomography for identifying plastic bronchitis in children with pneumonia
Early identification of plastic bronchitis (PB) in pneumonia (MPP) is very important, as it may help to initiate appropriate treatment early. We aimed to establish a machine learning (ML) model integrating clinical risk factors and chest computed tomography (CT) features to predict PB in children with MPP complicated with lung consolidation.
The impact of adenoid hypertrophy on obstructive sleep apnea in children with allergic rhinitis: a retrospective analysis of ventilation function and treatment outcomes
Adenoid hypertrophy is known to contribute to upper airway obstruction and obstructive sleep apnea (OSA) in children. The impact of adenoid hypertrophy on ventilation function, allergic rhinitis symptoms, and treatment outcomes in children with coexisting allergic rhinitis and OSA has not been extensively characterized. This study aimed to retrospectively analyze the influence of adenoid hypertrophy on OSA in children with allergic rhinitis.
Early continuous blood purification and timely liver transplantation in a neonatal-onset ornithine transcarbamylase deficiency: a case report
Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder (UCD), caused by a deficiency of the OTC enzyme, leading to the accumulation of toxic ammonia in the blood. Neonatal-onset OTCD is associated with high mortality and severe neurodevelopmental impairments. Symptoms are often non-specific and can mimic neonatal sepsis. If untreated, the condition can rapidly progress to neurological damage. Early diagnosis and prompt intervention are crucial for improving survival and long-term outcomes.
Epidemiology and clinical profiles of neonates with infection during the post-COVID-19 era in Chengdu
Data on neonatal (MP) infection in the post-coronavirus disease 2019 (post-COVID-19) era are scarce, despite MP being a common respiratory pathogen. This study explored the epidemiology and clinical features of hospitalized neonates with MP infection in Chengdu.
Increased incidence of necrotizing enterocolitis in very/extremely preterm infants with early hypotension: a retrospective cohort study
The relationship between neonatal early hypotension and necrotizing enterocolitis (NEC) remains uncertain, with inconsistent findings reported in previous studies. The objective of this study was to assess whether early hypotension in very/extremely preterm infants was associated with an increased risk of NEC, aiming to facilitate early detection and prevention.
Genetic markers and canonical pathways associated with medulloblastoma: a systematic review and meta-analysis
Medulloblastoma is the most common malignant brain tumor of childhood, accounting for 25% of pediatric central nervous system (CNS) neoplasms. Although the cause of medulloblastoma is unclear, recent findings have contributed to treatment guidelines that emphasize the extent of disease, tumor resection margins, and age of onset. This study synthesizes available evidence to provide further insight into associated genetic markers and associated pathways that may be leveraged for individualized therapy.
Immune cell reconstitution after allogeneic hematopoietic stem cell transplantation in children with β-thalassemia major
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains the only curative treatment for β-thalassemia major (TM). Currently, TM patients undergoing allo-HSCT achieve a survival rate exceeding 90%, with over 80% attaining disease-free survival following treatment at transplant centers worldwide. Sibling donors constitute the most common graft source, and the immune status of pediatric recipients directly influences transplant approach selection, conditioning regimen design, and prognosis. Children with TM exhibit distinct immune states before and after transplantation, yet research on post-transplant immune reconstitution in these patients remains limited. Therefore, this study aims to explore the characteristics of immune reconstitution following allo-HSCT in TM patients, with the goal of providing additional valuable insights for clinical management. This study aimed to investigate the differences in lymphocyte subset reconstitution within 1 year after allo-HSCT in children with TM, evaluate the efficacy of transplantation, and explore factors influencing post-transplant immune cell reconstitution.
Noninfectious endocarditis as a novel cardiac manifestation of glycogen storage disease type IV: a case report
Glycogen storage disease type IV (GSD IV), Andersen disease, is a rare autosomal recessive disorder of glycogen metabolism typically associated with liver failure and cardiomyopathy. Isolated non-infectious cardiac valvular disease as a sequela of GSD IV has not been previously reported in this population. We aim to describe the first reported case of non-infectious endocarditis as a novel cardiac manifestation in a patient with GSD IV.
Two Chinese patients with Basilicata-Akhtar syndrome caused by novel variants: a case report and literature review
MSL3 is a subunit of the chromatin-associated male-specific lethal (MSL) complex that regulates global histone H4 lysine-16 acetylation (H4K16ac) that plays a critical role as an epigenetic regulator in flies and mammals. Variants of have been reported to cause an ultra-rare developmental disorder, Basilicata-Akhtar syndrome (MRXSBA) (OMIM #301032), which is characterized by global development delay, intellectual disability (ID), muscular hypotonia and progressive spasticity. To date, only 42 patients with MRXSBA have been reported around the world, and the diagnosis and treatment of MRXSBA remain challenging.
Psychological resilience in pediatric nurses: a cross-sectional survey
Pediatric nursing is recognized as a highly demanding and stressful profession, often exacerbated by relatively lower remuneration, which can negatively affect nurses' psychological health. While prior research has explored psychological resilience in general nursing populations, limited data specifically address resilience levels and their determinants among pediatric nurses, leaving a critical gap in understanding how to support this specialized cohort. This study aimed to evaluate the psychological resilience of pediatric nurses and identify key influencing factors, providing evidence to inform targeted nurse management strategies.
Compound heterozygous low-density lipoprotein receptor variants causing homozygous of familial hypercholesterolemia in two sisters: a case report
Familial hypercholesterolemia (FH) is a severe hereditary lipid metabolism disorder. Homozygous FH (HoFH) in particular was marked by rapid disease progression, with afflicted children at risk of developing coronary heart disease or even suffering from fatal myocardial infarction in their teenage years. This case report is aim to deepen understanding of HoFH's complexity and provide a scientific foundation for early diagnosis, personalized therapy to improve treatment protocols and reduce the burden on patients and families.
Effects of modified exchange blood transfusion therapy on infants with severe pertussis: a case-control study
Severe pertussis usually occurs in children. The modified exchange blood transfusion (ET) has some benefits, but has not been widely used in children with severe pertussis. Therefore, the effects of ET on severe pertussis are to be illustrated. This study aimed to investigate the effects of ET on severe pertussis in children, and summarize the key points of nursing.
Clinical analysis of 73 children with anti-N-methyl-D-aspartic receptor (NMDAR) encephalitis
Anti-N-methyl-D-aspartic receptor (NMDAR) encephalitis is a severe neurological condition often seen in pediatric patients. Early identification of clinical characteristics and prognostic risk factors is essential for optimizing diagnosis and treatment. This study aimed to systematically assess the clinical features and treatment outcomes of pediatric anti-NMDAR encephalitis and to identify independent prognostic risk factors for poor outcomes.
