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Genes & Diseases 2024年第3期11卷 83-86页

作者： Ping Wei Weizhe Shi Tianying Nong Caixia Xian Xia Li Zhaohui Li Xin Li Jianping Wu Liyuan Shang Fulong Xu Yibo Xu Hongwen Xu Mingwei Zhu Guangzhou Institute of pediatrics Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouGuangdong 510623China Department of Pediatric Orthopedics Guangzhou Women and Children's Medical CenterGuangzhou Medical UniversityGuangdong Provincial Clinical Research Center for Child HealthGuangzhouGuangdong 510623China

Metatropicdysplasia(MD,MIM156530)is a rare congenital bone dysplasia primarily characterized by severe platyspondyly with long and wide vertebral bodies and dumbbell deformity of the tubular *** can be caused by heterozygous mutations in the gene encoding transient receptor potential vanilloid family member 4(TRPV4).We identifieda novel de novo mutation,c.2353T>C,in the TRPV4 gene,in a Chinese family with mild MD.

关键词： TRPV4 dysplasia congenital

Association between childhood obesity and gut microbiota:16S rRNA gene sequencing-based cohort study

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World Journal of Gastroenterology 2024年第16期30卷 2249-2257页

作者： Xu-Ming Li Qing Lv Ya-Jun Chen Lu-Biao Yan Xin Xiong Laboratory Department Nanjing Medical University Affiliated Obstetrics and Gynecology Hospital(Nanjing Maternal and Child Health Hospital)Nanjing 210004Jiangsu ProvinceChina Department of pediatrics Shenzhen University General HospitalShenzhen 518055Guangdong ProvinceChina Department of Inspection Division Women’s Hospital of Nanjing Medical University(Nanjing Maternity and Child Health Care Hospital)Nanjing 210004Jiangsu ProvinceChina Department of pediatrics Women’s Hospital of Nanjing Medical University(Nanjing Maternity and Child Health Care Hospital)Nanjing 210004Jiangsu ProvinceChina Department of Neonatology Chenzhou First People’s HospitalChenzhou 423000Hunan ProvinceChina

BACKGROUND This study aimed to identify characteristic gut genera in obese and normal-weight children(8-12 years old)using 16S rDNA *** research aimed to provide insights for mechanistic studies and prevention strategies for childhood *** normal-weight and thirty age-and sex-matched obese children were *** and body measurements were collected,and fecal samples underwent 16S rDNA *** differences in body mass index(BMI)and body-fat percentage were observed between the *** of gut microbiota diversity revealed lowerα-diversity in obese *** in gut microbiota composition were found between the two *** and Firmicutes were more abundant in the obese group,while Bacteroides and Sanguibacteroides were more prevalent in the control *** To identify the characteristic gut genera in obese and normal-weight children(8-12-year-old)using 16S rDNA sequencing,and provide a basis for subsequent mechanistic studies and prevention strategies for childhood *** Thirty each normal-weight,1:1 matched for age and sex,and obese children,with an obese status from 2020 to 2022,were included in the control and obese groups,*** information was collected through questionnaires and body measurements were obtained from both obese and normal-weight *** samples were collected from both groups and subjected to 16S rDNA sequencing using an Illumina MiSeq sequencing platform for gut microbiota diversity *** Significant differences in BMI and body-fat percentage were observed between the two *** Ace and Chao1 indices were significantly lower in the obese group than those in the control group,whereas differences were not significant in the Shannon and Simpson ***-Wallis tests indicated significant differences in unweighted and weighted UniFrac distances between the gut microbiota of normal-weight and obese children(P<0.01),suggest

关键词： childhood obesity Gut microbiota 16S rDNA sequencing Diversity analysis Genus identification Body mass index

Aberrant LETM1 elevation dysregulates mitochondrial functions and energy metabolism and promotes lung metastasis in osteosarcoma

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Genes & Diseases 2024年第3期11卷 368-384页

作者： Yulu Shi Quan Kang Hong Zhou Xiaohan Yue Yang Bi Qing Luo Stem Cell Biology and Therapy Laboratory The Children's Hospital of Chongqing Medical UniversityNational Clinical Research Center for Child Health and DisordersMinistry of Education Key Laboratory of Child Development and DisordersChongqing Key Laboratory of PediatricsChongqing 400014China Department of Pediatric Surgery The Children's Hospital of Chongqing Medical UniversityChongqing 400014China

Osteosarcoma is a differentiation-deficient disease,and despite the unique advan-tages and great potential of differentiation therapy,there are only a few known differentia-tion inducers,and little research has been done on their *** differentiation is associated with an increase in mitochondrial content and *** metabolism of some tu-mor cells is characterized by impaired oxidative phosphorylation,as well as up-regulation of aerobic glycolysis and pentose phosphate ***-containing zipper and EF-hand transmembrane protein 1(LETM1)is involved in the maintenance of mitochondrial morphology and is closely associated with tumorigenesis and progression,as well as cancer cell *** found that MG63 and 143B osteosarcoma cells overexpress LETM1 and exhibit abnormalities in mitochondrial structure and *** of LETM1 partially restored the mitochon-drial structure and function,inhibited the pentose phosphate pathway,promoted oxidative phosphorylation,and led to osteogenic *** also inhibited spheroid cell forma-tion,proliferation,migration,and invasion in an in vitro *** LETM1 was knocked down in vivo,there was reduced tumor formation and lung *** data suggest that mitochondria are aberrant in LETM1-overexpressing osteosarcoma cells,and knockdown of LETM1 partially restores the mitochondrial structure and function,inhibits the pentose phosphate pathway,promotes oxidative phosphorylation,and increases osteogenic differentiation,thereby reducing malignant biological behavior of the cells.

关键词： Cancer metabolism Differentiation LETM1 Osteosarcoma Stemness

Evaluating the role of interleukin-2 and interleukin-12 in pediatric patients with concurrent Mycoplasma pneumoniae and Epstein-Barr virus infections

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World Journal of Clinical Cases 2024年第23期12卷 5346-5353页

作者： Yan-Ping Hao Department of pediatrics Maternal and Child Health HospitalShaoxing 312400Zhejiang ProvinceChina

BACKGROUND Mycoplasma pneumoniae(MP)frequently causes respiratory infections in children,whereas Epstein-Barr virus(EBV)typically presents subclinical manifestations in immunocompetent pediatric *** incidence of MP and EBV coinfections is often overlooked clinically,with the contributory role of EBV in pulmonary infections alongside MP remaining *** To evaluate the serum concentrations of interleukin-2(IL-2)and interleukin-12(IL-12)in pediatric patients with MP pneumonia co-infected with EBV and assess their prognostic *** We retrospectively analyzed clinical data from patients diagnosed with MP and EBV co-infection,isolated MP infection,and a control group of healthy children,spanning from January 1,2018 to December 31,*** IL-2 and IL-12 levels were quantified using enzyme-linked immunosorbent *** regression was employed to identify factors influencing poor prognosis,while receiver operating characteristic(ROC)curves evaluated the prognostic utility of serum IL-2 and IL-12 levels in co-infected *** The co-infection group exhibited elevated serum IL-2 and C-reactive protein(CRP)levels compared to both the MP-only and control groups,with a reverse trend observed for IL-12(P<0.05).In the poor prognosis cohort,elevated CRP and IL-2 levels,alongside prolonged fever duration,contrasted with reduced IL-12 levels(P<0.05).Logistic regression identified elevated IL-2 as an independent risk factor and high IL-12 as a protective factor for adverse outcomes(P<0.05).ROC analysis indicated that the area under the curves for IL-2,IL-12,and their combination in predicting poor prognosis were 0.815,0.895,and 0.915,*** Elevated serum IL-2 and diminished IL-12 levels in pediatric patients with MP and EBV co-infection correlate with poorer prognosis,with combined IL-2 and IL-12 levels offering enhanced predictive accuracy.

关键词： Interleukin-2 Interleukin-12 Mycoplasma pneumonia Epstein-Barr virus Coinfection

Pediatric stricturing Crohn's disease

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World Journal of Gastroenterology 2024年第12期30卷 1651-1654页

作者： Alessandro Boscarelli Matteo Bramuzzo Department of Pediatric Surgery and Urology Institute for Maternal and Child Health-IRCCS“Burlo Garofolo”Trieste 34137Italy Department of Gastrointestinal Endoscopy and Nutrition Institute for Maternal and Child Health-IRCCS"Burlo Garofolo"Trieste 34137Italy

Crohn’s disease(CD)is a chronic inflammatory disease of the digestive *** incidence of pediatric CD is increasing and is currently 2.5-11.4 per 100000 ***,approximately 25%of children with CD develop stricturing CD(SCD)that requires *** stricturing diseases refractory to pharmacological management frequently require non-pharmacological ***-pharmacological therapeutic strategies include endoscopic balloon dilatation,stricturoplasty,and surgical resection of the strictured ***,strictures tend to recur postoperatively regardless of treatment *** lifetime risk of surgery in patients with childhood SCD remains at 50%-90%.Thus,new and emerging strategies,advanced diagnostic tools,and minimally invasive approaches are under investigation to improve the outcomes and overall quality of life of pediatric patients with SCD.

关键词： Stricturing Crohn’s disease pediatrics Insights Future perspectives

NLRP3 activation in macrophages promotes acute intestinal injury in neonatal necrotizing enterocolitis

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World Journal of pediatrics 2024年第2期20卷 153-164页

作者： Bo Shi Cheng-Jie Lyu Zhen-Kai Le Hao-Sen Ji Yi Xiao Yuan-Yuan Zhang Shou-Jiang Huang Lin-Jun Yu Qiang Shu Jin-Fa Tou Deng-Ming Lai Department of Neonatal Surgery Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhou 310052China Department of Pulmonology Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhou 310052China Department of Thoracic and Cardiovascular Surgery Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhou 310052China

Background Macrophages are involved in various immune inflammatory disease *** study aimed to investigate the role and mechanism of macrophages in regulating acute intestinal injury in neonatal necrotizing enterocolitis(NEC).Methods CD68,nucleotide-binding oligomerization domain,leucine-rich repeat,and pyrin domain-containing 3(NLRP3),cysteine aspartate-specific protease-1(caspase-1),and interleukin-1β(IL-1β)in paraffin sections of intestinal tissues from NEC and control patients were detected with immunohistochemistry,immunofluorescence,and western *** pet milk,hypoxia and cold stimulation were used to establish a mouse(wild type and Nlrp3^(-/-))model of *** mouse macrophage(RAW 264.7)and rat intestinal epithelial cell-6 lines were also cultured followed by various ***,intestinal epithelial cell injuries,and IL-1β release were *** Compared to the gut“healthy”patients,the intestinal lamina propria of NEC patients had high macrophage infiltration and high NLRP3,caspase-1,and IL-1β ***,in vivo,the survival rate of Nlrp3^(-/-)NEC mice was dramatically improved,the proportion of intestinal macrophages was reduced,and intestinal injury was decreased compared to those of wild-type NEC ***3,caspase-1,and IL-1β derived from macrophages or supernatant from cocultures of macrophages and intestinal epithelial cells also caused intestinal epithelial cell *** Macrophage activation may be essential for NEC ***3/caspase-1/IL-1β cellular signals derived from macrophages may be the underlying mechanism of NEC development,and all these may be therapeutic targets for developing treatments for NEC.

关键词： Caspase-1 Interleukin-1β Macrophage Necrotizing enterocolitis NLRP3

Polo-like kinase 1 as a biomarker predicts the prognosis and immunotherapy of breast invasive carcinoma patients

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Oncology Research 2024年第2期32卷 339-351页

作者： JUAN SHEN WEIYU ZHANG QINQIN JIN FUYU GONG HEPING ZHANG HONGLIANG XU JIEJIE LI HUI YAO XIYA JIANG YINTING YANG LIN HONG JIE MEI YANG SONG SHUGUANG ZHOU School of Big Data and Artificial Intelligence Anhui Xinhua UniversityHefei230088China Department of Gynecology and Obstetrics Maternity and Child Healthcare Hospital Affiliated to Anhui Medical UniversityAnhui Province Maternity and Child Healthcare HospitalHefei230001China Department of Gynecology and Obstetrics The Fifth Clinical College of Anhui Medical UniversityHefei230032China departments of Breast Surgery Fuyang Women and Children’s HospitalFuyang236000China departments of Pathology Anhui Province Maternity and Child Health HospitalHefei230001China Department of Pain The First Affiliated Hospital of Anhui Medical UniversityHefei230032China Department of Gynecology and Obstetrics Linquan Maternity and Child Healthcare HospitalFuyang236400China

Invasive breast carcinoma(BRCA)is associated with poor prognosis and high risk of ***,it is critical to identify novel biomarkers for the prognostic assessment of ***:The expression data of polo-like kinase 1(PLK1)in BRCA and the corresponding clinical information were extracted from TCGA and GEO ***1 expression was validated in diverse breast cancer cell lines by quantitative real-time polymerase chain reaction(qRT-PCR)and western *** sample gene set enrichment analysis(ssGSEA)was performed to evaluate immune infiltration in the BRCA microenvironment,and the random forest(RF)and support vector machine(SVM)algorithms were used to screen for the hub infiltrating cells and calculate the immunophenoscore(IPS).The RF algorithm and COX regression model were applied to calculate survival risk scores based on the PLK1 expression and immune cell ***,a prognostic nomogram was constructed with the risk score and pathological stage,and its clinical potential was evaluated by plotting calibration charts and DCA *** application of the nomogram was further validated in an immunotherapy ***:PLK1 expression was significantly higher in the tumor samples in TCGA-BRCA ***,PLK1 expression level,age and stage were identified as independent prognostic factors of *** the IPS was unaffected by PLK1 expression,the TMB and MATH scores were higher in the PLK1-high group,and the TIDE scores were higher for the PLK1-low *** also identified 6 immune cell types with high infiltration,along with 11 immune cell types with low infiltration in the PLK1-high tumors.A risk score was devised using PLK1 expression and hub immune cells,which predicted the prognosis of BRCA *** addition,a nomogram was constructed based on the risk score and pathological staging,and showed good predictive ***:PLK1 expression and immune cell infiltration can predict post-immunotherapy pr

关键词： Breast invasive carcinoma(BRCA) Polo-like kinase 1(PLK 1) Random forest(RF) Support vector machine(SVM) Immune infiltration

Associations of prenatal exposure to bisphenols with BMI growth trajectories in offspring within the first two years:evidence from a birth cohort study in China

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World Journal of pediatrics 2024年第7期20卷 701-711页

作者： Chao Xiong Kai Chen Lu-Li Xu Yi-Ming Zhang Hua Liu Meng-Lan Guo Zhi-Guo Xia Yu-Ji Wang Xiao-Feng Mu Xiao-Xuan Fan Jing-Quan Chen Yu-Ru Liu Yuan-Yuan Li Wei Xia You-Jie Wang Ai-Fen Zhou Wuhan children’s Hospital(Wuhan Maternal and child healthcare Hospital) Tongji Medical CollegeHuazhong University of Science and TechnologyWuhan430016China Key Laboratory of Environment and health Ministry of Education and Ministry of Environmental Protectionand State Key Laboratory of Environmental HealthSchool of Public HealthTongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina Department of Maternal and child health School of Public HealthTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China

Background Prenatal bisphenol exposure has been reported to be associated with lower birth weight and obesity-related indicators in early *** findings warrant an investigation of the relationship between prenatal bisphenol exposure and the dynamic growth of *** study aimed to evaluate the relationship of maternal bisphenol concentration in urine with the body mass index(BMI)growth trajectory of children aged up to two years and to identify the critical exposure *** A total of 826 mother–offspring pairs were recruited from Wuhan children’s Hospital between November 2013 and March *** urine samples collected during the first,second,and third trimesters were analyzed for bisphenol A(BPA),bisphenol S,and bisphenol F(BPF)*** of length and weight were taken at 0,1,3,6,8,12,18,and 24 ***'s BMI was standardized using the World health Organization reference,and group-based trajectory modeling was used to identify BMI growth *** associations between prenatal bisphenol exposure and BMI growth trajectory patterns were assessed using multinomial logistic regression *** The BMI growth trajectories of the 826 children were categorized into four patterns:low-stable(n=134,16.2%),low-increasing(n=142,17.2%),moderate-stable(n=350,42.4%),and moderate-increasing(n=200,24.2%).After adjusting for potential confounders,we observed that prenatal exposure to BPA during the second trimester[odds ratio(OR)=2.20,95%confidence interval(CI)=1.09–4.43]and BPF during the third trimester(OR=3.28,95%CI=1.55–6.95)at the highest quartile concentration were associated with an increased likelihood of the low-increasing BMI ***,in the subgroup analysis by infant sex,the positive association between the highest quartile of prenatal average urinary BPF concentration during the whole pregnancy and the low-increasing BMI trajectory was found only in girls(OR=2.82,95%CI=1.04–7.68).Conclus

关键词： Birth cohort study Bisphenol A Bisphenol S Bisphenol F Body mass index trajectory Prenatal exposure

Development and validation of a novel non-invasive test for diagnosing nonalcoholic fatty liver disease in Chinese children

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World Journal of pediatrics 2024年第4期20卷 413-421页

作者： Zhe-Wen Qin Qian-Nan Ren Hong-Xi Zhang Ya-Ru Liu Ke Huang Wei Wu Guan-Ping Dong Yan Ni Jun-Fen Fu Division of Endocrinology National Clinical Research Center for Child HealthNational Children’s Regional Medical CenterThe Children’s HospitalDepartment of EndocrinologyNational Clinical Research Center for Child HealthNational Children’s Regional Medical CenterThe Children’s HospitalZhejiang University School of MedicineHangzhou310052China

With the exploding prevalence of obesity,many children are at risk of developing nonalcoholic fatty liver *** anthropometric and laboratory parameters,our study aimed to develop a model to quantitatively evaluate liver fat content(LFC)in children with *** A well-characterized cohort of 181 children between 5 and 16 years of age were recruited to the study in the Endocrinology Department as the derivation *** external validation cohort comprised 77 *** assessment of liver fat content was performed using proton magnetic resonance *** and laboratory metrics were measured in all subjects.B-ultrasound examination was carried out in the external validation *** Kruskal-Wallis test,Spearman bivariate correlation analyses,univariable linear regressions and multivariable linear regression were used to build the optimal predictive *** The model was based on indicators including alanine aminotransferase,homeostasis model assessment of insulin resistance,triglycerides,waist circumference and Tanner *** adjusted R^(2)of the model was 0.589,which presented high sensitivity and specificity both in internal[sensitivity of 0.824,specificity of 0.900,area under curve(AUC)of 0.900 with a 95%confidence interval:0.783–1.000]and external validation(sensitivity of 0.918 and specificity of 0.821,AUC of 0.901 with a 95%confidence interval:0.818–0.984).Conclusions Our model based on five clinical indicators was simple,non-invasive,and inexpensive;it had high sensitivity and specificity in predicting LFC in ***,it may be useful for identifying children with obesity who are at risk for developing nonalcoholic fatty liver disease.

关键词： Biochemical markers children Magnetic resonance spectroscopy Nonalcoholic fatty liver disease Pediatric obesity

Effect of dietary with Zhibai dihuang pills and gonadotropinreleasing-hormone-analogue on girls with precocious and rapidly progressive puberty

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World Journal of Clinical Cases 2024年第24期12卷 5534-5541页

作者： Xue-Mei Wang Wei Li Liu-Qing Yang Rui Luo Chen-Chen Zhang Department of pediatrics Ma’anshan Maternal and Child Health HospitalMa’anshan 243011Anhui ProvinceChina

BACKGROUND At present,the clinical mechanisms underlying precocious puberty remain unclear,making effective intervention for children experiencing this condition and rapidly progressive puberty *** To explore the effects of Zhibai dihuang pills and gonadotropin-releasing hormone analogue(GnRHa)on growth and ovarian function in girls with precocious *** The clinical data of 84 adolescent girls with precocious puberty and rapidly progressive puberty from February 2017 to August 2023 were retrospectively *** were divided into a control group and an observation group,with 42 cases in each *** control group received diet intervention combined with GnRHa treatment,while the observation group received diet intervention combined with Zhibai dihuang pills+GnRHa *** such as clinical efficacy,growth indicators,ovarian function,and adverse reactions were compared between the two *** The observation group showed superior clinical efficacy compared to the control group(P0.05).Post-intervention,the observation group exhibited significantly lower rates in growth,height,and bone age,along with reduced levels of progesterone,testosterone,estradiol,prolactin,luteinizing hormone,and follicle-stimulating hormone compared to the control group(P0.05).CONCLUSION Combining Zhibai dihuang pills with GnRHa and dietary intervention effectively improves growth,enhances ovarian function,and minimizes adverse reactions in adolescent girls with precocious and rapidly progressive puberty.

关键词： Zhibai dihuang pills Gonadotropin-releasing hormone analogue Dietary intervention Precocious puberty Rapidly progressive puberty Ovarian function