World Journal of Pediatrics最新文献

{"title":"Critical importance of accurate diagnosis in treatable neurometabolic disorders: insights from a large Chinese cohort with glucose transporter-1 deficiency syndrome.","authors":"Hui Xiong","doi":"10.1007/s12519-025-00885-8","DOIUrl":"10.1007/s12519-025-00885-8","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"211-212"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature.","authors":"Yue Jiang, Zhi-Qiang Wan, Xin-Yue Zhang, Han-Ze Du, Yun-Meng Yang, Hui Pan, Yi Hu","doi":"10.1007/s12519-025-00881-y","DOIUrl":"10.1007/s12519-025-00881-y","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Data sources: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"223-251"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504638","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and genetic characteristics of glucose transporter 1 deficiency syndrome in a large cohort of Chinese patients.","authors":"Mei-Jiao Zhang, Shi-Min Zhang, Qing-Ping Zhang, Yong-Xin Wen, Jia-Ping Wang, Yu-Wu Jiang, Xin-Hua Bao","doi":"10.1007/s12519-025-00884-9","DOIUrl":"10.1007/s12519-025-00884-9","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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%).</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"274-283"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958367/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568344","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mpox in children: drawing epidemiologic insights from endemic regions.","authors":"Viola Savy Dsouza, Jestina Rachel Kurian, Angela Brand","doi":"10.1007/s12519-025-00886-7","DOIUrl":"10.1007/s12519-025-00886-7","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"216-219"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504640","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human parainfluenza virus: an important but overlooked respiratory pathogen.","authors":"Zhen Zhu, Yan Zhang, Nai-Ying Mao","doi":"10.1007/s12519-025-00888-5","DOIUrl":"10.1007/s12519-025-00888-5","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"220-222"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143543750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From low remission to hope: the efficacy of targeted therapies in NUP98-R positive pediatric acute myeloid leukemia.","authors":"Run-Ji Xiong, Hong-Xia Tang, Tian-Tian Yin, Hui-Yi Pan, Run-Ming Jin","doi":"10.1007/s12519-025-00875-w","DOIUrl":"10.1007/s12519-025-00875-w","url":null,"abstract":"<p><strong>Background: </strong>Treating pediatric acute myeloid leukemia (AML) with NUP98 rearrangement (NUP98-R) is challenging. Standard chemotherapy results in low remission rates. This study aimed to evaluate different induction regimens and explore alternative therapies to improve outcomes.</p><p><strong>Methods: </strong>This retrospective study included 111 pediatric patients with AML treated at our institution from March 2012 to March 2023. Patients were classified into two groups: NUP98-R-positive (n = 10) and NUP98-R-negative (n = 101). We compared their clinical characteristics, treatment responses, and prognoses. Additionally, we presented three cases of NUP98-R-positive patients to elaborate on the role of targeted therapies during induction in treatment outcomes and prognosis.</p><p><strong>Results: </strong>Patients with NUP98-R fusion genes had a complete remission (CR) rate of 20% after the first induction, which was significantly lower than the 64.3% reported in those without NUP98-R fusion genes (P < 0.05). The 3-year event-free survival (EFS) rate was also lower, with only 30% for NUP98-R patients and 55.3% for non-NUP98-R patients (P < 0.05). The prognosis of NUP98-R patients improved with targeted therapies during induction. For example, Patient 1 achieved CR with FLT3 and BCL-2 inhibitors plus conventional chemotherapy. Patient 2, who was treated with a CDK6 inhibitor, a BCL-2 inhibitor, azacitidine, and an FLT3 inhibitor, also achieved CR and underwent successful stem cell transplantation. Conversely, Patient 3, who received only standard chemotherapy, did not achieve remission and died from a severe infection.</p><p><strong>Conclusions: </strong>This study demonstrated that using targeted drugs for the induction in NUP98-R pediatric AML improved treatment outcomes. BCL-2, FLT3, and CDK6 inhibitors available at our institution are promising options for this phase of treatment.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"266-273"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958374/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of age on cardiometabolic health in children at adiposity rebound: the role of genetic mechanisms.","authors":"Ling Luo, Fang-Biao Tao","doi":"10.1007/s12519-025-00893-8","DOIUrl":"10.1007/s12519-025-00893-8","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Data sources: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>Our results support earlier AR as a marker for identifying cardiometabolic risk and screening high-risk populations at the genetic level.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"252-265"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143651043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adherence to 24-hour movement guidelines in adolescence and its association with lower risk of hypertension in adulthood.","authors":"Antonio García-Hermoso, José Francisco López-Gil, Rodrigo Yáñez-Sepúlveda, Jorge Olivares-Arancibia, Jacqueline Páez-Herrera, Yasmin Ezzatvar","doi":"10.1007/s12519-025-00880-z","DOIUrl":"10.1007/s12519-025-00880-z","url":null,"abstract":"<p><strong>Background: </strong>There is limited research on how adherence to 24 h movement guidelines from adolescence to adulthood affects long-term hypertension outcomes. This study examined the association between sustained adherence to these guidelines and hypertension risk.</p><p><strong>Methods: </strong>Analysis was done on data from adolescents 12- to 19-year-olds who took part in Waves I and V of the Add Health Study. Physical activity (PA), screen time, and sleep duration were assessed through self-report questionnaires. Blood pressure (BP) was assessed on the right arm following a 5 min seated rest, utilizing an oscillometric device, and hypertension was defined as systolic/diastolic BP ≥ 140/90 mmHg, physician-diagnosed hypertension, or current antihypertensive medication use.</p><p><strong>Results: </strong>This prospective study included a total of 3076 participants (60.3% female), and 802 were diagnosed with hypertension. Meeting sleep duration guidelines at Wave I was associated with reductions in systolic [- 0.568 mmHg, 95% bias-corrected and accelerated (BCa) confident interval (CI) - 2.128 to - 0.011, P = 0.044] and diastolic (- 0.331 mmHg, 95% BCa CI - 1.506 to - 0.071, P = 0.043) BP at Wave V. Adherence to PA and sleep duration guidelines at both waves further reduced BP, with the greatest decreases observed among participants meeting all three guidelines: systolic (- 6.184 mmHg, 95% BCa CI - 13.45 to - 0.915, P = 0.040) and diastolic BP (- 3.156 mmHg, 95% BCa CI - 6.413 to - 0.120, P = 0.047). The risk of hypertension was lower among those who met the PA guidelines individually [relative risk (RR) 0.710, 95% CI 0.516-0.976, P = 0.035] or adhered to all three recommendations (RR 0.699, 95% CI 0.311-0.899, P = 0.030) in both waves.</p><p><strong>Conclusions: </strong>Our findings highlight the cardiovascular benefits of consistently adhering to healthy movement behaviors from adolescence through adulthood.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"284-290"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11958436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Global prevalence of cannabis and amphetamine/methamphetamine use among adolescents in 47 countries: a population-based study from WHO database.","authors":"Yejun Son, Seohyun Hong, Yesol Yim, Soeun Kim, Hojae Lee, Kyeongmin Lee, Hyeon Jin Kim, Hyesu Jo, Jaeyu Park, Jiyeon Oh, Sooji Lee, Hayeon Lee, Christa J Nehs, Lee Smith, Dong Keon Yon, Jiseung Kang","doi":"10.1007/s12519-025-00883-w","DOIUrl":"10.1007/s12519-025-00883-w","url":null,"abstract":"<p><strong>Background: </strong>Adolescent drug use poses significant public health challenges worldwide, with detrimental effects on mental and physical health. Most existing research focuses on Western countries, holding a gap in understanding drug use in low- and middle-income countries. Thus, we aimed to assess the prevalence of cannabis and amphetamine or methamphetamine use among school-going adolescents aged 12-15 years across 47 countries globally.</p><p><strong>Methods: </strong>We used data from the Global School-based Student Health Survey from 47 countries (2009-2018) to analyze cannabis and amphetamine/methamphetamine use and age at first drug use among adolescents (n = 220,362). A meta-analysis utilizing random-effects models estimated prevalence rates and weighted linear regression analyzed trends. Student's t tests were used to compare two-subgroup categories, while one-way ANOVA was employed for analyses involving the four-subgroup category. Stratification analysis by sex, World Bank income category, region, and country-specific characteristics based on World Health Organization data were also performed.</p><p><strong>Results: </strong>The study included a total of 220,362 school-going adolescents aged 12-15 years (49.96% girls) from 47 countries. The overall prevalence of cannabis use was 7.02% [95% confidence interval (CI) 6.16-7.89], with higher usage among boys [9.20% (95% CI 8.05-10.36)] compared to girls [4.20% (95% CI 3.68-4.72)]. Amphetamine/methamphetamine use prevalence was 4.05% (95% CI 3.51-4.60), also higher among boys [5.14% (95% CI 4.45-5.84)] than girls [2.34% (95% CI 2.00-2.69)]. The region of the Americas exhibited the highest prevalence of cannabis use [11.31% (95% CI 8.44-14.17)], while the African region showed the highest prevalence of amphetamine use [4.34% (95% CI 3.14-5.53)]. High-income countries reported the highest prevalence of cannabis use [9.45% (95% CI, 6.06 to 12.84)], whereas low-income countries had the lowest [3.46% (95% CI 2.01-4.91)]. Higher prevalence rates were associated with countries having higher homicide rates, better sanitation services, and higher health expenditures.</p><p><strong>Conclusions: </strong>Cannabis use among adolescents is more prevalent than amphetamine or methamphetamine use, with significant sex differences showing higher prevalence among boys. The highest prevalence of cannabis use was observed in Latin America, while Africa exhibited the highest rates of amphetamine use. Findings from the present study indicate a need for public policies and programs targeting adolescents to effectively reduce adolescent drug use.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"291-305"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tribute to Reviewers (January 1, 2024 to December 31, 2024).","authors":"","doi":"10.1007/s12519-025-00877-8","DOIUrl":"https://doi.org/10.1007/s12519-025-00877-8","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143256680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}