World Journal of Pediatrics最新文献

Background: Increased understanding of the etiology of attention-deficit hyperactivity disorder (ADHD) emphasizes the importance of non-pharmaceutical treatments. This study compares the effects of Baduanjin exercise, a Qigong-based body therapy from traditional Chinese medicine (TCM), with routine physical exercise on school-aged children diagnosed with ADHD.

Methods: In this two-arm, single-blind, randomized controlled trial, eligible school-aged children with ADHD were randomly assigned (1:1) to Baduanjin exercise or regular physical exercise using a permuted block randomization procedure. Both groups performed the designated exercise for at least 30 minutes a day and were monitored for exercise quality at least 5 days a week for 3 months. The primary outcome was a doctor-assessed hyperactivity/impulsivity score change, using the Swanson, Nolan, and Pelham rating scale (DSNAP_HYP) at the end of the third month since intervention initiation.

Results: Between October 2020 and January 2023, 120 eligible children were randomly allocated to two exercise interventions. After 3 months, the DSNAP_HYP decreased by 3.67 ± 4.81 and 4.68 ± 4.44 of Baduanjin exercise and regular physical exercise, respectively, with no significant between-group difference [mean difference = 1.52; 95% confidence interval (CI) = - 0.08 to 3.13; P = 0.06]. No adverse events were reported during the whole study period.

Conclusions: This study did not demonstrate the expected superiority of 3-month Baduanjin exercise in improving ADHD symptoms compared with routine physical exercise. However, the results suggest that both types of exercise may improve core symptom scores, providing preliminary evidence for Baduanjin as a potential supplementary intervention for children with ADHD.

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most prevalent congenital malformations in children and a common cause of chronic kidney disease. There is currently limited documentation of the clinical epidemiology and disease burden of hospitalized CAKUT patients globally. This study reports the clinic-epidemiological characteristics and disease burden of hospitalized CAKUT children in China, and offers critical data to inform the diagnosis, treatment, and prevention of CAKUT.

Methods: From January 2016 to December 2022, hospitalized patients diagnosed with CAKUT were discharged from 33 provincial and municipal hospitals across China. Demographic and clinical data were collected for statistical analysis.

Results: A total of 33,621 children aged 0-18 years were hospitalized with a CAKUT diagnosis, accounting for 0.46% of the total pediatric hospitalizations during the study period. There was a male-to-female ratio of 1.88:1. The CAKUT hospitalization rate demonstrated an increasing trend from 2016 to 2022 (P < 0.001). Regional hospitalization rates were significantly higher in Eastern and Central China compared to Western and Northeastern China (P < 0.001). Most patients were diagnosed with hydronephrosis, with a hospitalization ratio of 1.28% (n = 9359). 18.00% of patients were diagnosed with multiple CAKUT. The incidence of urinary tract infections (UTIs) increased as the number of combined CAKUT conditions rose.

Conclusions: The most common CAKUT subtype is hydronephrosis. The disease spectrum of CAKUT was different in different age groups, which gradually evolved from hydronephrosis to duplex collection system and renal cystic disease. UTI, associated nonurinary congenital anomalies and low birth weight are the warning factors for CAKUT. The cost burden and fatality rate of CAKUT is low. Strengthening the management of CAKUT and appropriate intervention is expected to obtain a good prognosis and improve quality of life.

Background: Mitochondria plays a pivotal role in cellular energy production, and their dysfunction can lead to a spectrum of mitochondrial diseases, affecting various organs with a wide range of clinical symptoms. Among these, short stature is a notable manifestation, yet its pathogenesis related to mitochondrial dysfunction remains underexplored.

Data sources: A comprehensive literature search was conducted in the PubMed, Medline, and EMBASE databases from inception to November 2024. Patient demographics, genetic confirmation type, clinical features associated with short stature or growth abnormalities, and any interventions or treatments alongside treatment outcomes were extracted.

Results: Our article provides a comprehensive review of the clinical manifestations and delves into the molecular mechanisms of mitochondrial dysfunction that are associated with short stature. A total of 134 genetically confirmed cases with primary mitochondrial disease (PMD) associated with short stature with mtDNA (e.g., m.3243A>G, large-scale deletions) and nDNA mutations (e.g., NDUFB3, SURF1). Median age at short stature detection was 8 years, with 40% presenting earlier. Growth hormone deficiency (GHD) occurred in 15% of cases, showing variable responses to therapy. Pathogenesis involves mitochondrial dysfunction, growth plate impairment, and endocrine disorders. Early diagnosis relies on timely genetic testing. Management of PMD includes tailored dietary strategies, supplementation, and cautious GH therapy due to potential risks. Emerging gene therapy and multidisciplinary care are emphasized to address disease complexity and optimize outcomes.

Conclusions: Previous reviews have described the endocrine aspects of mitochondrial diseases. Although the list of endocrine diseases is comprehensive, it is not specific for short stature. This review focuses on short stature, and it is more specific than previous reviews in terms of etiology, pathogenesis, diagnosis, treatment, and prospects.

Background: Mutations in the SLC2A1 gene cause glucose transporter type 1 deficiency syndrome (Glut1DS). This study aimed to investigate the clinical and molecular genetics characteristics of Chinese patients with Glut1DS.

Methods: The clinical data of patients with Glut1DS were analyzed retrospectively. SLC2A1 mutation analysis was performed using Sanger sequencing or next-generation sequencing (NGS). Multiplex ligation-dependent probe amplification (MLPA) was conducted in patients with negative results.

Results: A total of 90 patients were diagnosed with Glut1DS, including 63 (70%) classic type and 27 (30%) non-classic type. Seizures occurred in 69 patients (77%), movement disorders were observed in 58 (68%), and episodic eye-head movements were noted in 17 (19%). Cerebrospinal fluid (CSF) glucose levels were available for 73 patients (81%), ranging from 1.0 to 2.6 mmol/L (median 1.9 mmol/L), with 90% (66/73) of patients showing levels below 2.2 mmol/L. Additionally, CSF-to-blood glucose ratios measured in 71 patients (79%) ranged from 0.20 to 0.63 (median 0.37), with 87% (62/71) of patients having ratios below 0.45. Genetic analysis identified 69 variants of the SLC2A1 gene including 39 previously reported and 30 unreported variants. The two most common variants were c.997C > T (p.Arg333Trp) and c.988C > T (p.Arg330*). Following ketogenic diet therapy, seizures were controlled in 47 of 57 patients (82%), movement disorders resolved in 18 of 47 patients (38%), and improved in 26 of 47 patients (55%).

Conclusions: The clinical manifestations of Glut1DS primarily include seizures, movement disorders, and developmental delay. Most affected children had CSF glucose levels below 2.2 mmol/L, with CSF-to-blood glucose ratios under 0.45. Two of the most common SLC2A1 variants were identified in our cohort. Ketogenic diet therapy was effective in controlling seizures, improving movement disorders, and was well tolerated.

Background: Identifying effective predictors early in life is crucial to enable timely prevention and intervention to improve cardiometabolic health outcomes. Adiposity rebound (AR) is an important period in early life, with earlier AR increasing the risk of cardiometabolic abnormalities. However, the role and mechanism of genetic factors in this association are unclear. Therefore, this study reviews the potential genetic mechanisms influencing the age at AR, as well as the genetic mechanisms linking earlier AR with cardiometabolic abnormalities.

Data sources: A comprehensive literature search was conducted in PubMed and China National Knowledge Infrastructure databases using a combination of medical subject headings terms and related keywords, including "adiposity rebound", "cardiometabolic", "obesity", "BMI trajectory", "diabetes mellitus", "dyslipidemias", "hypertension", "metabolic syndrome", "genetics", and "epigenetic". Citation tracking was performed as a supplementary search strategy. All potentially relevant articles were subsequently subjected to full-text evaluation for eligibility assessment.

Results: Polymorphisms in the DMRT1, FTO, LEPR, and TFAP2B genes, along with obesity susceptibility, can influence the age at AR. Single-nucleotide polymorphisms associated with the age at AR are enriched in the insulin-like growth factor 1 (IGF-1) signaling pathway, which can be modulated by the LEPR and TFAP2B genes. Shared genetic mechanisms between cardiometabolic abnormalities and the age at AR are influenced by obesity-related genetic variants. These variants regulate the growth hormone (GH)/IGF-1 axis, advancing AR and leading to cardiometabolic abnormalities. Earlier AR alters adiponectin and leptin levels, further activating the GH/IGF-1 axis and creating a vicious cycle. Long-term breastfeeding can counteract the adverse effects of obesity-related genetic susceptibility on AR timing, thereby reducing the genetic risk of cardiometabolic abnormalities.

Conclusions: Our results support earlier AR as a marker for identifying cardiometabolic risk and screening high-risk populations at the genetic level.