Translational pediatrics最新文献

筛选
英文 中文
A rare de novo mutation, m.1630A>G, in the mitochondrial trnAVal (MT-TV) gene in a child with epilepsy. 癫痫患儿线粒体trnAVal (MT-TV)基因中罕见的新突变m.1630A >g。
IF 1.5 4区 医学
Translational pediatrics Pub Date : 2025-06-27 Epub Date: 2025-06-12 DOI: 10.21037/tp-2025-258
Qiong Wang, Yan Chen, Jun Li, Baomin Li
{"title":"A rare <i>de novo</i> mutation, m.1630A>G, in the mitochondrial trnAVal (<i>MT-TV</i>) gene in a child with epilepsy.","authors":"Qiong Wang, Yan Chen, Jun Li, Baomin Li","doi":"10.21037/tp-2025-258","DOIUrl":"10.21037/tp-2025-258","url":null,"abstract":"","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1385-1386"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268643/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurodevelopmental disorder due to a frameshift mutation in the GRIN2A gene: a case report. 由GRIN2A基因移码突变引起的神经发育障碍:一例报告。
IF 1.5 4区 医学
Translational pediatrics Pub Date : 2025-06-27 Epub Date: 2025-06-18 DOI: 10.21037/tp-2025-93
Chen Xu, Man-Li Wang, Wei-Hao Ling, Ji-Hong Tang
{"title":"Neurodevelopmental disorder due to a frameshift mutation in the <i>GRIN2A</i> gene: a case report.","authors":"Chen Xu, Man-Li Wang, Wei-Hao Ling, Ji-Hong Tang","doi":"10.21037/tp-2025-93","DOIUrl":"10.21037/tp-2025-93","url":null,"abstract":"<p><strong>Background: </strong>Pathogenic variants in <i>GRIN2A</i>, encoding the GluN2A subunit of the N-methyl-D-aspartate receptor (NMDAR), are increasingly recognized as causes of neurodevelopmental disorders, particularly within the epilepsy-aphasia spectrum. However, presentations without clinical seizures-especially those initially manifesting as isolated ataxia-are rarely reported. We describe a previously unreported <i>GRIN2A</i> frameshift variant associated with early-onset ataxia, delayed-onset electrographic abnormalities, and favorable response to immunotherapy.</p><p><strong>Case description: </strong>A 23-month-old boy presented with subacute gait ataxia following a viral illness. Neuroimaging, cerebrospinal fluid analysis, and an extensive autoimmune panel were unremarkable. Initial immunotherapy with high-dose corticosteroids and intravenous immunoglobulin (IVIG) led to transient improvement. Five months later, he developed recurrent ataxia, speech regression, drooling, and global developmental delay, still without overt seizures. Video electroencephalogram (EEG) revealed electrical status epilepticus during slow-wave sleep (ESES) with a spike-wave index exceeding 85%. Trio-based whole genome sequencing identified a novel heterozygous frameshift variant in <i>GRIN2A</i> (c.1717delG, p.Val573Phefs*16), predicted to result in loss of all transmembrane domains. Repeat immunotherapy produced significant clinical improvement, including restored ambulation, cessation of drooling, enhanced speech output, and marked reduction in epileptiform discharges. The patient remained seizure-free during the reported treatment period. Notably, his mother, a carrier of the same variant, reported only a brief history of childhood seizures with minimal residual speech disturbance.</p><p><strong>Conclusions: </strong>This case expands the phenotypic spectrum of <i>GRIN2A</i>-related disorders to include early isolated ataxia and delayed electrographic epilepsy in the absence of clinical seizures. It highlights the diagnostic value of early genetic testing in atypical neurodevelopmental syndromes and suggests that immunotherapy may confer clinical and electrophysiological benefits, even in presumed NMDAR loss-of-function states. Integration of genomics, neurophysiology, and immune-modulating strategies may inform future precision therapies for <i>GRIN2A</i>-associated encephalopathies.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1353-1361"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence and overlap of white blood cell counts, procalcitonin and C-reactive protein in neonates with invasive bacterial infections. 新生儿侵袭性细菌感染中白细胞计数、降钙素原和c反应蛋白的患病率和重叠。
IF 1.5 4区 医学
Translational pediatrics Pub Date : 2025-06-27 Epub Date: 2025-06-23 DOI: 10.21037/tp-2025-97
Zhanghua Yin, Jintong Tan, Yujie Xie, Jianyuan Zhao, Yan Chen, Yongjun Zhang
{"title":"Prevalence and overlap of white blood cell counts, procalcitonin and C-reactive protein in neonates with invasive bacterial infections.","authors":"Zhanghua Yin, Jintong Tan, Yujie Xie, Jianyuan Zhao, Yan Chen, Yongjun Zhang","doi":"10.21037/tp-2025-97","DOIUrl":"10.21037/tp-2025-97","url":null,"abstract":"<p><strong>Background: </strong>Neonatal invasive bacterial infections (IBIs) are associated with substantial mortality. We aimed to elucidate the prevalence and overlapping effects of white blood cell (WBC), procalcitonin (PCT), and C-reactive protein (CRP) in neonates with IBIs.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study in 17 Chinese hospitals from 2012 to 2021. Full-term neonates who had suspected IBIs and underwent blood cultures and lumbar punctures were enrolled. We investigated the prevalence of WBC counts, PCT, CRP, and their combinations for predicting IBIs risk.</p><p><strong>Results: </strong>Of 1,825 patients, 121 were identified with early-onset IBIs and 314 with late-onset IBIs. Restricted Cubic Spline plots indicated positive relationships between PCT, CRP levels and IBIs risk, but PCT curve was relatively flat in early-onset IBIs. A U-shaped association was found between leukocyte counts and late-onset IBIs risk, whereas no such correlation in early-onset cases was found. Neonates with normal WBC counts, elevated PCT and CRP accounted for the highest proportion in early-onset IBIs (28.1%), as did those with leukocytosis, increased PCT and CRP in late-onset IBIs (26.1%). Heat map showed that the highest overlapping risks of early- [adjusted odds ratio (aOR) =23.6; 95% confidence interval (CI): 5.7-98.4] and late-onset IBIs (aOR =30.3, 95% CI: 12.7-72.3) were both in leukopenia with increased PCT and CRP. Statistical interaction effects were affirmed between leukopenia and elevated PCT in both IBIs types.</p><p><strong>Conclusions: </strong>Leukocyte counts, PCT, CRP and their overlaps contribute unequally in neonatal IBIs risk assessment, with differences observed even for the same combinations between early- and late-onset IBIs. This multi-marker approach provides new perspectives on rapidly and conveniently identifying neonates at high risk of IBIs for further clinical management.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1245-1255"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268583/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Repair of tetralogy of Fallot in neonates: a single-center case series. 新生儿法洛四联症的修复:单中心病例系列。
IF 1.5 4区 医学
Translational pediatrics Pub Date : 2025-06-27 Epub Date: 2025-06-25 DOI: 10.21037/tp-2025-133
Can Jin, Yongtao Wu, Yalun Qu, Zhiyi Wang, Bin Li, Jun Yan, Francesco Nappi, Stiljan Hoxha, Qiang Wang
{"title":"Repair of tetralogy of Fallot in neonates: a single-center case series.","authors":"Can Jin, Yongtao Wu, Yalun Qu, Zhiyi Wang, Bin Li, Jun Yan, Francesco Nappi, Stiljan Hoxha, Qiang Wang","doi":"10.21037/tp-2025-133","DOIUrl":"10.21037/tp-2025-133","url":null,"abstract":"<p><strong>Background: </strong>The optimal timing for surgical intervention in the management of tetralogy remains a subject of ongoing debate. This investigation involved a retrospective analysis of neonatal patients who had received continuous treatment for tetralogy of Fallot (TOF) at our centre. The objective of this study was to examine the feasibility and necessity of treating TOF in the neonatal period.</p><p><strong>Methods: </strong>A retrospective analytical investigation was undertaken of 33 cases of neonates who underwent consecutive one-stage surgical repair for TOF at the Beijing Anzhen Hospital from June 2022 to December 2023. The subjects had an average gestational age of 38.1 weeks (range, 31.3-40.0 weeks) and a median age at surgery of 14.0 days [interquartile range (IQR): 9.75-20.0 days]. Their mean weight at the time of surgery was 3.25±0.53 kg, and their mean pulse blood oxygen saturation (SpO<sub>2</sub>) level was 93.0% (range, 80-98%).</p><p><strong>Results: </strong>The mean duration for which aortic cross-clamping was performed during the surgical procedure was 74.24 minutes, with a standard deviation of ±16.33 minutes. The average duration of cardiopulmonary bypass (CPB) was 118.85±17.94 minutes. The average duration of postoperative mechanical ventilation was 110.6 hours (±89.2 hours). The patients' average postoperative intensive care unit (ICU) stay was 10 days (range, 6.75-13.25 days), and their median postoperative stay was 14 days (IQR, 11.75-15.5 days). Postoperative complications were observed in two patients (6%), who required peritoneal dialysis catheter insertion at the bedside to manage fluid imbalances. No further interventions nor mortalities occurred during the follow-up period. The median follow-up period after surgery was 201 days (range, 51-417 days).</p><p><strong>Conclusions: </strong>The curative effect of TOF repair in the neonatal period is well-documented, with its ability to prevent the effects of pulmonary artery development and collateral circulation formation. Consequently, we suggest considering TOF repair during the neonatal period.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1278-1286"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675847","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel use of a light-emitting nasogastric tube to enhance oesophageal dissection during laparoscopic fundoplication in children: a case report. 一种新型的发光鼻胃管在儿童腹腔镜手术中加强食管解剖:一个病例报告。
IF 1.5 4区 医学
Translational pediatrics Pub Date : 2025-06-27 Epub Date: 2025-06-10 DOI: 10.21037/tp-2024-584
Adrian Chi Heng Fung, Patrick Ho Yu Chung, Eugene Chin Tung Lau, Kenneth Kak Yuen Wong
{"title":"Novel use of a light-emitting nasogastric tube to enhance oesophageal dissection during laparoscopic fundoplication in children: a case report.","authors":"Adrian Chi Heng Fung, Patrick Ho Yu Chung, Eugene Chin Tung Lau, Kenneth Kak Yuen Wong","doi":"10.21037/tp-2024-584","DOIUrl":"10.21037/tp-2024-584","url":null,"abstract":"<p><strong>Background: </strong>Laparoscopic Nissen fundoplication is the standard treatment for gastroesophageal reflux disease in children. The proper dissection of the oesophagus and the hiatus is essential yet may be associated with higher morbidities in scenarios where dense adhesions obscuring a clear tissue plane were anticipated, for instance, patients with previous laparotomies, redo-fundoplication, etc. We hereby report the first experience of the novel use of a light-emitting nasogastric tube to enhance oesophageal dissection during laparoscopic fundoplication in children.</p><p><strong>Case description: </strong>In this case report, we report a four-year-old girl with known cystic fibrosis who required supplemental milk to improve nutrition and medications administered via a nasogastric tube. Since long-term tube feeding was expected, the patient's parents were advised of the need for gastrostomy tube insertion and a pre-operative potential of hydrogen (pH) study. The 24-hour pH study revealed significant gastroesophageal reflux; therefore, laparoscopic fundoplication and gastrostomy were planned. An infrared illumination system urethral kit was put inside a feeding tube for identification of the boundary of the intra-abdominal oesophagus and aiding dissection in real time. Laparoscopic fundoplication and gastrostomy were smoothly performed. The patient resumed feeding 1 day after the procedure and was fit for discharge 3 days after the operation.</p><p><strong>Conclusions: </strong>Light-emitting nasogastric tube is safe and potentially facilitates oesophageal dissection during laparoscopic fundoplication in children.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1332-1335"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675843","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel EFTUD2 splicing variant causing mandibulofacial dysostosis with microcephaly: a case report. 一种新的EFTUD2剪接变异引起小头畸形的下颌面骨缺损1例报告。
IF 1.5 4区 医学
Translational pediatrics Pub Date : 2025-06-27 Epub Date: 2025-06-24 DOI: 10.21037/tp-2024-587
Ying Xu, Xiwen Zhang, Wenli Lu, Yuan Xiao, Xiaoyu Ma, Lifen Chen, Zhiya Dong
{"title":"A novel <i>EFTUD2</i> splicing variant causing mandibulofacial dysostosis with microcephaly: a case report.","authors":"Ying Xu, Xiwen Zhang, Wenli Lu, Yuan Xiao, Xiaoyu Ma, Lifen Chen, Zhiya Dong","doi":"10.21037/tp-2024-587","DOIUrl":"10.21037/tp-2024-587","url":null,"abstract":"<p><strong>Background: </strong>Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant disorder caused by pathogenic variants in the <i>EFTUD2</i> gene, presenting with craniofacial anomalies, microcephaly, and systemic abnormalities. Despite several reported cases, the genetic and molecular mechanisms underlying MFDM remain inadequately understood. This case study identifies and analyzes a previously unreported <i>EFTUD2</i> splice variant (NM_004247.4:c.492+1del), investigates its clinical phenotype, and analyzes genotype-phenotype correlations to improve early recognition and diagnosis of MFDM.</p><p><strong>Case description: </strong>The patient had facial abnormalities (micrognathia, high-arched palate, microtia, and preauricular tags), a small head-to-body ratio, sensorineural hearing loss, delayed speech development, and cognitive impairment. Exome sequencing identified a splice variant, NM_004247.4:c.492+1del, in the <i>EFTUD2</i> gene, which was classified as pathogenic according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). AlphaFold 2 predictions indicated that this variant had a significant impact on the protein structure. RNA-sequencing (RNA-seq) further demonstrated that the NM_004247.4:c.492+1del variant led to a pronounced splicing abnormality, causing exon 6 skipping during the transcription process of the <i>EFTUD2</i> gene.</p><p><strong>Conclusions: </strong>This study reported a novel <i>EFTUD2</i> splice variant in a child with MFDM, expanding its variant spectrum. Utilizing RNA-seq, we demonstrated the variant's pathogenicity and contributed to the understanding of MDFM's genotype-phenotype relationship, enriching the disease's variant spectrum with molecular insights.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1336-1343"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epstein-Barr virus (EBV)-induced acute acalculous cholecystitis in children: a case report. eb病毒引起的儿童急性无结石性胆囊炎1例报告。
IF 1.5 4区 医学
Translational pediatrics Pub Date : 2025-06-27 Epub Date: 2025-06-23 DOI: 10.21037/tp-2024-614
Xiaoyuan Zhang, Chunlin Wang
{"title":"Epstein-Barr virus (EBV)-induced acute acalculous cholecystitis in children: a case report.","authors":"Xiaoyuan Zhang, Chunlin Wang","doi":"10.21037/tp-2024-614","DOIUrl":"10.21037/tp-2024-614","url":null,"abstract":"<p><strong>Background: </strong>The clinical manifestations of Epstein-Barr virus (EBV) infection are usually infectious mononucleosis, chronic active EBV infection, and related hemophagocytic lymphohistiocytosis. The incidence of non-calculous cholecystitis in children is not high, and non-calculous cholecystitis in children caused by EBV infection remains a rarity, which is often overlooked in clinical practice. The purpose of this study was to describe the clinical characteristics, laboratory tests, imaging findings, and treatment outcomes of a 9-year-old boy.</p><p><strong>Case description: </strong>This case details a 9-year-old boy who was diagnosed with infectious mononucleosis, acute non-calculous cholecystitis (ACC), and severe hepatic insufficiency. ACC is very rare in pediatric patients, especially because of its own liver function impairment, which is easily overlooked in clinical diagnosis. At the beginning of the disease, the patient presented with upper abdominal pain and vomiting, which was misdiagnosed as acute gastroenteritis, and later with fever, yellowing of the skin, dark yellow urine, repeated abdominal pain and vomiting, and serious liver damage, which was later found to be accompanied by ACC. After receiving regular treatment, the patient's condition improved, with no discomfort reported in the follow-up six months and one year thereafter. This case emphasizes that the clinical work should be carefully performed, in order not to miss any specific clinical manifestations. In this study, we highlight a new problem posed by EBV infection, as well as early awareness of rare cases of ACC in children caused by EBV infection.</p><p><strong>Conclusions: </strong>This case report provides a new supplement for the diagnosis and treatment of rare non-calculous cholecystitis in children caused by EBV infection, and provides a clinical basis for young pediatricians to make a timely diagnosis, reduce misdiagnosis, and prevent missed diagnosis.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1326-1331"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The development and validation of a privacy-preserving model based on federated learning for diagnosing severe pediatric pneumonia. 基于联邦学习的儿童重症肺炎诊断隐私保护模型的开发与验证。
IF 1.5 4区 医学
Translational pediatrics Pub Date : 2025-06-27 Epub Date: 2025-06-25 DOI: 10.21037/tp-2025-349
Dejian Wang, Guoqiang Qi, Jing Li, Yuqi Wang, Kexiong Dong, Jian Ding, Chen Zhu, Jun Zhu, Beiyan Li, Gang Yu, Shuiguang Deng
{"title":"The development and validation of a privacy-preserving model based on federated learning for diagnosing severe pediatric pneumonia.","authors":"Dejian Wang, Guoqiang Qi, Jing Li, Yuqi Wang, Kexiong Dong, Jian Ding, Chen Zhu, Jun Zhu, Beiyan Li, Gang Yu, Shuiguang Deng","doi":"10.21037/tp-2025-349","DOIUrl":"10.21037/tp-2025-349","url":null,"abstract":"<p><strong>Background: </strong>There is a challenge of in diagnostic testing of pneumonia in children, especially severe pneumonia. Thus, developing an auxiliary diagnostic model to help identify severe pneumonia in pediatric patients at an early stage would be highly valuable to address the issues. To overcome the issue of privacy protection, we applied a privacy-preserving machine learning framework to build a multicenter diagnostic model based on federated learning technology.</p><p><strong>Methods: </strong>Based on Arya, a novel privacy computing platform developed by Hangzhou Healink Technology Corporation, several privacy-preserving federated learning models were developed using datasets from one, two, or four medical centers. A total of 5,091 records were included in this multicenter retrospective study, with 2,484 pediatric patients with severe pneumonia and 2,607 with common pneumonia. Among the records, 80% were used in model training for the diagnosis of severe pneumonia, with 11 common indicators, including white blood cell count (WBC), high-sensitivity C-reactive protein (hs-CRP), hemoglobin (Hb), platelet count (PLT), lymphocyte percentage (L%), monocyte percentage (M%), neutrophil percentage (N%), prothrombin time (PT), alanine aminotransferase (ALT), aspartate aminotransferase (AST), and lactic dehydrogenase (LDH), while the other 20% records were used for model efficacy evaluation. During the process, the original data were stored in the individual hospitals without transmission.</p><p><strong>Results: </strong>Based on privacy-preserving federated learning technology, the developed models provided reliable diagnostic efficacy for severe pneumonia. Among these models, the four-center model achieved the highest diagnostic efficacy (95.10% sensitivity, 82.70% specificity, and 85.80% accuracy). Although the two-center models achieved a relatively low diagnostic efficacy, they still surpassed the diagnostic efficacy of the single-center model (88.10% sensitivity, 74.60% specificity, and 81.00% accuracy).</p><p><strong>Conclusions: </strong>Privacy-preserving federated learning technology can facilitate the performance of multicenter studies and was used to develop a high-performance diagnostic model for severe pneumonia in pediatric patients, which can benefit doctors and patients as an auxiliary diagnostic tool.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1287-1295"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675851","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Alterations in the gut microbiota in individuals with infantile cholestasis: a comparison of high- and low-γ-glutamyltransferase subtypes. 婴儿胆汁淤积症患者肠道微生物群的改变:高γ-谷氨酰转移酶亚型和低γ-谷氨酰转移酶亚型的比较
IF 1.5 4区 医学
Translational pediatrics Pub Date : 2025-06-27 Epub Date: 2025-06-25 DOI: 10.21037/tp-2025-183
Yijun Lin, Hong Ye, Yan Chen, Weijie Ou, Rui Zhang
{"title":"Alterations in the gut microbiota in individuals with infantile cholestasis: a comparison of high- and low-γ-glutamyltransferase subtypes.","authors":"Yijun Lin, Hong Ye, Yan Chen, Weijie Ou, Rui Zhang","doi":"10.21037/tp-2025-183","DOIUrl":"10.21037/tp-2025-183","url":null,"abstract":"<p><strong>Background: </strong>There are two subtypes of infantile cholestasis (IC): high-γ-glutamyltransferase (GGT) and low-GGT (LG) cholestasis. This study aims to investigate the differences in the gut microbiota between infants with cholestasis and healthy infants and the correlations between the gut microbiota and blood or urine metabolites associated with high-GGT (HG) and LG IC subtypes.</p><p><strong>Methods: </strong>A total of 37 infants were recruited into the cholestasis (Cho) group, including 21 infants with HG and 16 infants with LG levels, with 23 infants included in the control (Con) group. The gut microbiota composition was comprehensively analyzed, as were blood and urine metabolites, clinical indicators, and their correlations. The study was registered in both the Chinese Clinical Trial Registry (www.chictr.org.cn, ChiCTR2300072387) and the National Medical Research Registration & Filing Information System (www.medicalresearch.org.cn, MR-35-24-056613).</p><p><strong>Results: </strong>The <i>Lactobacillus</i>, <i>Streptococcus</i>, <i>Bacteroides</i>, and <i>Lactococcus</i> abundances were greater and the <i>Lachnoclostridium</i> abundance was lower in the Cho group than in the Con group. The Bacteroides abundance was significantly greater in the HG group than in the LG group. The characteristic bacterial taxa in the HG group were <i>Bacteroides</i>, <i>Lactococcus</i>, <i>Streptococcus thermophilus</i> TH1435, <i>Haemophilus</i>, <i>Parabacteroides</i> and Subgroup_6, whereas those in the LG group were <i>Gammaproteobacteria</i>, <i>Streptococcus</i>, <i>Blautia</i>, <i>Pasteurellaceae</i>, <i>Staphylococcus</i>, <i>Megamonas</i>, <i>Helicobacter</i> and <i>Bacillus</i>. The HG group presented higher concentrations of alkapton-3 and lower concentrations of methylfumaric acid-2, 2-hydroxyglutaric acid-3 and malic acid-3 than the LG group. The abundances of Pasteurellaceae and Parabacteroides were negatively correlated with GGT levels and pediatric end-stage liver disease (PELD) scores, respectively.</p><p><strong>Conclusions: </strong>Infants with cholestasis exhibit gut microbiota dysbiosis. Notably, distinct differences in the microbiota profiles were observed between the HG and LG cholestasis groups. <i>Bacteroides</i> and <i>Parabacteroides</i> may play roles in the HG group, whereas <i>Gammaproteobacteria</i> and <i>Pasteurellaceae</i> did so in the LG group. Our research provides new insights into the relationships between gut microbiota and different subtypes of IC, but the causal relationships and specific mechanisms need to be characterized further and verified.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1263-1277"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Seasonal epidemiological and clinical characteristics of pediatric patients with respiratory syncytial virus infection by age during COVID-19: a cross-sectional study. COVID-19期间按年龄分呼吸道合胞病毒感染患儿的季节性流行病学及临床特征:一项横断面研究
IF 1.5 4区 医学
Translational pediatrics Pub Date : 2025-06-27 Epub Date: 2025-06-18 DOI: 10.21037/tp-2025-62
Le-Yun Xie, Ying-Gang Peng, Tao Wang, Tian Yu, Xian Hu, Le Yang, Li-Li Zhong, Li Peng, Sai-Zhen Zeng
{"title":"Seasonal epidemiological and clinical characteristics of pediatric patients with respiratory syncytial virus infection by age during COVID-19: a cross-sectional study.","authors":"Le-Yun Xie, Ying-Gang Peng, Tao Wang, Tian Yu, Xian Hu, Le Yang, Li-Li Zhong, Li Peng, Sai-Zhen Zeng","doi":"10.21037/tp-2025-62","DOIUrl":"10.21037/tp-2025-62","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;To date, reports have been conflicting regarding changes in the age distribution and severity of respiratory syncytial virus (RSV) hospitalizations in children since the beginning of the coronavirus disease 2019 (COVID-19) pandemic. This study aimed to investigate the epidemiological trends and clinical characteristics of RSV infection among children hospitalized with acute lower respiratory tract infection (ALRTI) before and during the COVID-19 pandemic.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A cross-sectional study was conducted from January 2018 to December 2022 in Hunan, China. Data were collected on hospitalized children 14 years or younger with RSV-positive ALRTIs admitted to the Children's Medical Center of Hunan Provincial People's Hospital and the First Affiliated Hospital of Hunan Normal University. We evaluated their demographic characteristics, clinical features, and disease severity before and during the COVID-19 pandemic.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;RSV was detected in 4,255 (17.68%) of the 24,072 children, and the highest detection was 30.90% (1,248 of 4,039) in 2021. The RSV detection rates differed significantly among the years (χ&lt;sup&gt;2&lt;/sup&gt;=664.741, P&lt;0.001). Among 4,006 RSV-positive children, 62.91% were males and 98.45% were children &lt;5 years old. We found an atypical upsurge of RSV infection in the autumn of 2020 and throughout 2021 after a major suppression in February 2020. The RSV resurge during the COVID-19 epidemic was most prominently in children aged 2-4 years. Compared with pre-pandemic, the median age of children with RSV infection during the COVID-19 pandemic increased from 8 to 12 months (&lt;i&gt;Z&lt;/i&gt;=-12.688, P&lt;0.001). Moreover, the proportion of children in the 1-5 months old group decreased (37.47% before &lt;i&gt;vs&lt;/i&gt;. 23.61% during the epidemic), and the proportion of children in the 24-59 months old group increased (12.17% before &lt;i&gt;vs&lt;/i&gt;. 24.29% during the epidemic) (χ&lt;sup&gt;2&lt;/sup&gt;=92.225, P&lt;0.001). We next compared the clinical characteristics of &lt;5-year-old children before and during the COVID-19 pandemic by age. The wheezing ratio of each age group decreased during the COVID-19 pandemic (P&lt;0.001), and except for the 12-23 months old group, the proportions of fever increased during the COVID-19 epidemic (P&lt;0.001), and polypnea, dyspnea, and catarrh increased (P&lt;0.001). In terms of disease severity, stratified by age, the proportion of children under 2 years old requiring oxygen support during the COVID-19 epidemic increased, and the proportion of invasive ventilation increased in the 6-11 months old group (2.61% &lt;i&gt;vs&lt;/i&gt;. 0.89%, χ&lt;sup&gt;2&lt;/sup&gt;=4.178, P=0.04). However, there were no differences in hospitalization duration and the proportion of children admitted to the pediatric intensive care unit (PICU) before and during the COVID-19 epidemic.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;During the COVID-19 pandemic, RSV-infected children were older and had a lower rate of wheezing and disease","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":"14 6","pages":"1168-1180"},"PeriodicalIF":1.5,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144675849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信