中华儿科杂志最新文献

{"title":"[Clinical and genetic investigation of 4 children with microdeletion KBG syndrome].","authors":"M M Li, Z Z Zhang, S Q Wang, X Wang, J Q Hu, M Q Wang, H Y Wei, Y X Chen","doi":"10.3760/cma.j.cn112140-20250206-00095","DOIUrl":"10.3760/cma.j.cn112140-20250206-00095","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the genetic characteristics of clinical manifestations in children with KBG syndrome due to microdeletions. <b>Methods:</b> A retrospective case summary was conducted. Four children diagnosed with KBG syndrome due to 16q24.3 microdeletion at Children's Hospital of Zhengzhou University from July 2021 to April 2024 were enrolled.Their clinical manifestations, biochemical parameters, imaging data, whole-exome sequencing results, treatments and follow-up outcomes were reviewed. <b>Results:</b> The cohort included two males and two females (diagnosed at 81, 18, 26, and 56 months of age, respectively), from four unrelated families. All patients exhibited peculiar facial features (Cupid's bowed-shaped lips, prominent ears, thick eyebrows), skeletal abnormalities (brachydactyly, abnormal ribs, short stature, etc.), ocular anomalies (astigmatism, strabismus, amblyopia, etc.), intrauterine growth restriction, and developmental retardation. Case 2, 3, 4 had cranial imaging abnormalities, including thin anterior pituitary lobes with pineal cyst, left ventricular cyst, and abnormal pituitary stalk or lateral ventricles with sinusitis, respectively. Two children had intellectual disability, two had congenital heart disease, and one had delayed bone age and hair abnormalities. Whole exome genomic sequencing confirmed 16q24.3 microdeletions encompassing ANKRD11 gene in all four cases. Two children treated with recombinant human growth hormone achieved height increments of 1.5 <i>s</i> and 0.4 <i>s</i>, respectively. <b>Conclusions:</b> Typical features of 16q24.3 microdeletion-induced KBG syndrome include peculiar facial features, macrodontia, skeletal anomalies, neurological abnormalities, and ocular defects. Genetic testing is essential for definitive diagnosis. The treatment of KBG syndrome requires early diagnosis and multidisciplinary collaboration to implement individualized treatment for multisystem symptoms.</p>","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 7","pages":"794-797"},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144303719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Granulomatosis with polyangiitis in a child presenting with gastrointestinal ulcers as the initial manifestation].","authors":"Z B Zhou, D Wang, X Y Shi, Y Yao, J Zhang, J B Sun, Y P Cui, Z L Li","doi":"10.3760/cma.j.cn112140-20250314-00208","DOIUrl":"10.3760/cma.j.cn112140-20250314-00208","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 7","pages":"798-799"},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144303727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Strengthen early management and standardized diagnosis and treatment of corrosive injury of the digestive tract in children].","authors":"M Z Jiang","doi":"10.3760/cma.j.cn112140-20250429-00377","DOIUrl":"10.3760/cma.j.cn112140-20250429-00377","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 7","pages":"702-704"},"PeriodicalIF":0.0,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144303733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Composition of gut microbiota and characteristics of virulence factors genes in overweight or obese children and their relationship with liver metabolic inflammation].","authors":"J Y Jiang, Z X Fan, F Yang, H M Liu, M Mao, L Feng, F Xiong, P Li","doi":"10.3760/cma.j.cn112140-20241128-00873","DOIUrl":"10.3760/cma.j.cn112140-20241128-00873","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Objective:&lt;/b&gt; To explore the composition of gut microbiome, the characteristics of virulence factor genes and their relationship with liver metabolic inflammation in overweight or obese children. &lt;b&gt;Methods:&lt;/b&gt; A case-control design was conducted. From the children who visited the West China Second University Hospital of Sichuan University for medical or physical examinations between August 2021 and April 2022, a total of 23 obese children (obesity group), 8 overweight children (overweight group), and 22 healthy children (control group) were recruited. The body mass index of children was calculated after anthropometric measurements; metabolic inflammation indexes such as the levels of fasting blood glucose and hepatic function and renal function etc. were detected. The composition and abundance of gut microbiota in the feces of the children were detected by metagenomic sequencing technology and the Shannon index and Simpson index were calculated to assess the α diversity of virulence factor genes. The Wilcoxon rank-sum test was used for pairwise comparison between groups. The Spearman's rank correlation test was used for correlation analysis, and the Benjamini-Hochberg method was used to correct the &lt;i&gt;P&lt;/i&gt;-value of multiple tests. &lt;b&gt;Results:&lt;/b&gt; The obese group included 23 children aged 8.5 (6.3, 11.8) years, of whom 9 (39%) were male. The overweight group consisted of 8 children aged 9.2 (5.5, 12.3) years, of whom 4 were male. The control group comprised 22 children aged 5.3 (5.1, 5.4) years, of whom 10 (45%) were male. The obese group exhibited higher levels of alanine aminotransferase (ALT), gamma-glutamyl transferase (γ-GT), globulin, and uric acid compared to those of the control group (all &lt;i&gt;P&lt;/i&gt;&lt;0.05), with ALT also higher than that of the overweight group (&lt;i&gt;P&lt;/i&gt;&lt;0.05). The levels of fasting blood glucose, γ-GT, globulin, and uric acid in the overweight group were all higher than those in the control group (all &lt;i&gt;P&lt;/i&gt;&lt;0.05). The abundance of &lt;i&gt;Coprococcus A&lt;/i&gt; (0.76 (0.00, 3.11) &lt;i&gt;vs.&lt;/i&gt; 0.00 (0.00, 0.00), false discovery rate (&lt;i&gt;FDR&lt;/i&gt;)&lt;0.05) and &lt;i&gt;Parasutterella&lt;/i&gt; (0.89 (0.08, 1.79) &lt;i&gt;vs.&lt;/i&gt; 0.00 (0.00, 0.08), &lt;i&gt;FDR&lt;/i&gt;&lt;0.05) in the gut of children in the obese group were both higher than those of the control group. The number of virulence factor genes in the obese group was higher than those of the control group (941 (886, 977) &lt;i&gt;vs.&lt;/i&gt; 890 (807, 920), &lt;i&gt;P&lt;/i&gt;&lt;0.05). The Simpson index and Shannon index of gut microbial virulence factor genes in the obese group were both higher than those of the control group (0.993 (0.992, 0.993) &lt;i&gt;vs.&lt;/i&gt; 0.991(0.990, 0.991), (5.50 (5.46, 5.56) &lt;i&gt;vs.&lt;/i&gt; 5.37 (5.30, 5.43), both &lt;i&gt;P&lt;/i&gt;&lt;0.01). The abundance of gut microbiota virulence factors genes all showed positive correlations with fasting blood glucose, ALT, γ-GT, and uric acid levels in children (all &lt;i&gt;r&lt;/i&gt;&gt;0.3, all &lt;i&gt;FDR&lt;/i&gt;&lt;0.05). The abundance of 17 gut microbial virulence factor genes were all positive","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 6","pages":"642-648"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144113000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research progress on predictors of renal injury severity in children with IgA vasculitis].","authors":"Y T Gong, Y Chen, Y X Tang, X J Nie","doi":"10.3760/cma.j.cn112140-20241112-00818","DOIUrl":"10.3760/cma.j.cn112140-20241112-00818","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 6","pages":"676-679"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research on the prevalence of overweight and obesity among children].","authors":"X Y Liang, J N Chen, X L Zhou, R M Chen, J S Luo, R X Zheng, C X Gong, C L Wang, Z Su, Mireguli Maimaiti, Y Liang, H Yao, H Y Wei, H W Du, S K Chen, Y Yang, F H Luo, P Li, M Zhu, W Wu, K Huang, G P Dong, J F Fu","doi":"10.3760/cma.j.cn112140-20250205-00092","DOIUrl":"10.3760/cma.j.cn112140-20250205-00092","url":null,"abstract":"<p><p><b>Objective:</b> 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. <b>Methods:</b> 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. Multilevel multinomial logistic regression models were employed to identify the potential risk factors. <b>Results:</b> The cohort comprised 193 997 children (102 178 boys, 91 819 girls),aged (10±4) years. Overall prevalence rates were 30 574(15.8%)overweight children and 17 217(8.9%) obesity children. Boys exhibited higher overweight and obesity rates than girls (17.0% (17 368/102 178) <i>vs.</i> 14.4% (13 206/102 178), 11.3% (11 553/91 819) <i>vs.</i> 6.2% (5 664/91 819), <i>χ</i>²=249.12,1 578.69,both <i>P</i><0.001). The detection rates of obesity in Tanner stage 2 and 3 were the highest in boys and girls, with 13.4%(2 231/16 665) and 8.6%(880/10 221) respectively. Risk factors for obesity included parental overweight (paternal <i>OR</i>=2.34 and maternal <i>OR</i>=2.29), annual household income of 100 000-200 000 yuan (compared with<100 000 yuan, <i>OR</i>=1.04), higher paternal education (compared with below high school,high school and a college education <i>OR</i>=1.09,1.14), birth weight >4.0 kg (≤5 and>5 years old <i>OR</i>=1.74, 1.44,respectively), and western food consumption≥1 time/month (compared with<1, 1-2, 3-4,>4 times/month <i>OR</i>=1.36, 1.30, 1.67(≤5 years), 1.19, 1.16, 1.15 (>5 years), respectively) (all <i>P</i><0.05). Conversely, coarse grain intake≥1 times/week (compared with<1 times/week, every day, 3-4, 1-2 times/week <i>OR</i>=0.74, 0.80, 0.71 (≤5 years), 0.75, 0.87, 0.90(>5 years), respectively, all <i>P</i><0.05) was associated with reduced obesity risk. <b>Conclusions:</b> Obesity epidemiology in children demonstrates significant heterogeneity across age, gender, geographic regions, and pubertal stages. It is necessary to establish a personalized prevention and control strategy.</p>","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 6","pages":"612-619"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Interpretation of guideline for the management of diabetic ketoacidosis in children (2024)].","authors":"B Y Cao, M Cheng, C X Gong","doi":"10.3760/cma.j.cn112140-20250102-00004","DOIUrl":"10.3760/cma.j.cn112140-20250102-00004","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 6","pages":"606-611"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Clinical phenotype and genotype analysis of neuroinflammation, autoinflammation, splenomegaly and anemia syndrome caused by IRAK4 gene variantion].","authors":"S M Peng, S B X Yuan, Z X Sun, Y Zhang, W Wang, H M Song","doi":"10.3760/cma.j.cn112140-20241203-00884","DOIUrl":"10.3760/cma.j.cn112140-20241203-00884","url":null,"abstract":"<p><p><b>Objective:</b> To summarize the clinical and genetic features of neuroinflammation, autoinflammation, splenomegaly and anemia (NASA) syndrome and investigate the pathogenic mechanism. <b>Methods:</b> The clinical data of 2 patients diagnosed with NASA syndrome at Department of Pediatrics, Peking Union Medical College Hospital were retrospectively analyzed. Variants were identified by gene panel sequencing and confirmed by Sanger sequencing. The function of IRAK4 gene variants was studied in vitro. <b>Results:</b> Among the 2 patients, case 1 was an 8-year-old girl and case 2 was a 10-year-old boy. Both patients presented in early childhood with anemia and hepatosplenomegaly. Case 1 was also experienced recurrent seizures. Laboratory examinations showed elevated inflammatory markers and neuroimaging revealed bilateral basal ganglia calcification. In case 2, anemia and inflammation markers were well controlled after treatment with tocilizumab, while case 1 succumbed to recurrent seizures. Genetic tests verified compound heterozygous variants in IRAK4 gene: case 1 carries a nonsense variant c.592G>T (p.G198X) and a missense variant c.248A>C (p.D83A), which were respectively from the parents; case 2 carries a c.831+3A>G variant and a frameshift variant c.540delT (p.F180Lfs*26), and the former was inherited from the father and the latter from the mother. The reverse transcription and Sanger sequencing results confirmed that c.831+3A>G variant led to exon 7 skipping. In vitro studies indicated that c.592G>T, c.540delT and c.831+3A>G variants resulted in truncated interleukin-1 receptor-associated kinase-4 (IRAK4) protein while c.248A>C do not cause changes in IRAK4 protein expression level and protein length. <b>Conclusions:</b> NASA syndrome should be considered in children with early-onset anemia, hepatosplenomegaly, recurrent seizures, elevated inflammatory markers and intracranial calcification. IRAK4 gene variants may lead to impaired anti-inflammatory function of IRAK4 protein, contributing to the autoinflammatory phenotype.</p>","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 6","pages":"655-659"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112995","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Upholding integrity and innovation to embrace the mission, advancing vigorously toward the future].","authors":"T Y Wang","doi":"10.3760/cma.j.cn112140-20250416-00342","DOIUrl":"10.3760/cma.j.cn112140-20250416-00342","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 6","pages":"573-575"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112780","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"[Research progress of mesenchymal stem cell exosomes in the treatment of intraventricular hemorrhage in premature infants].","authors":"Q H Xia, D Y Jiang, Z W Zhang, J Li, H T Zhang, Z L Lin, T L Zhang","doi":"10.3760/cma.j.cn112140-20250211-00107","DOIUrl":"10.3760/cma.j.cn112140-20250211-00107","url":null,"abstract":"","PeriodicalId":60813,"journal":{"name":"中华儿科杂志","volume":"63 6","pages":"691-694"},"PeriodicalIF":0.0,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}