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Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report

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World Journal of Clinical Cases 2024年第14期12卷 2445-2450页

作者： Jing Yuan Xiang-Ming Yan Department of Pediatric Children’s Hospital of Soochow UniversitySuzhou 215025Jiangsu ProvinceChina Department of surgery Children's Hospital of Soochow UniversitySuzhou 215000Jiangsu ProvinceChina

BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 *** this case,a heterozygous mutation in exon5 of the LAMA2 gene,c.715C>G(resulting in a change of nucleotide number 715 in the coding region from cytosine to gua-nine),induced an amino acid alteration p.R239G(No.239)in the patient,repre-senting a missense *** observation may be elucidated by the neonatal creatine monitoring mechanism,a phenomenon not previously *** sUMMARY We analysed the case of a neonate presenting solely with elevated CK levels who was eventually discharged after supportive *** chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 ***-mission occurred at 18 d of age,and despite prolonged treatment with creatine and vitamin C,the elevated CK levels showed limited *** exo-me sequencing revealed the presence of a c.715C>G mutation in LAMA2 in the newborn,correlating with a clinical ***,the available informa-tion offers insufficient evidence for clinical *** Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels,for which no specific treatment *** genome sequen-cing facilitates early diagnosis.

关键词： Creatine kinase LAMA2 Gene mutation Neonate Case report

Exploring causality with biliary atresia at different levels:two-sample Mendelian randomization study

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World Journal of Pediatric surgery 2024年第2期7卷 150-157页

作者： shaowen Liu Jiayinaxi Musha Zhiru Wang Xueting Wang Tengfei Li Jianghua Zhan Clinical school of Paediatrics Tianjin Medical UniversityTianjinChina Department of General surgery Tianjin Children's HospitalTianjinChina Urumqi City First People's Hospital(Urumqi children's Hospital) UrumqiChina

Background In recent years,Mendelian randomization(MR)has been widely used to infer causality of related disease risk ***,this strategy has not been applied to biliary atresia(BA).Methods Genome-wide association studies(GWAs)data of 41 inflammatory cytokines,731 immune cell traits,and 1400 metabolites were obtained from public databases as exposure *** outcome information was obtained from a GWAs meta-analysis of 499 children with BA and 1928 normal *** variance weighting was the primary causality *** Q-test,MR-Egger intercept,MR pleiotropy residual sum and outlier,and'leave-one-out'analyses were used for sensitivity *** MR,MR-steiger,and Linkage Disequilibrium score were used to exclude the effects of reverse causality,genetic association,and linkage *** MR results showed that a total of seven traits had potential causal relationships with BA,including three inflammatory cytokines:eotaxin(odds ratio(OR)=1.45,95%confidence interval(CI):1.08 to 1.95,pFDR=0.18),G-CsF(OR=4.21,95%CI:1.75 to 10.13,pFDR=0.05)and MCP-1/MCAF(OR=1.53,95%CI:1.12 to 2.10,pFDR=0.14);three immune cell traits:CD8dim NKT/T cells ratio(OR=0.59,95%CI:0.45 to 0.77,pFDR=0.06),CD8dim NKT counts(OR=0.58,95%CI:0.43 to 0.78,pFDR=0.06),CD8dim NKT/lymphocyte ratio(OR=0.63,95%CI:0.49 to 0.81,pFDR=0.06);one metabolite:X-12261 levels(OR=2.86,95%CI:1.73 to 4.74,pFDR=0.06).Conclusions In this study,eotaxin,G-CsF,MCP-1/MCAF,and X-12261 levels were shown to be risk factors for ***,CD8dim NKT/T cells ratio,CD8dim NKT counts,and CD8dim NKT/lymphocyte ratio were protective factors for *** findings provided a promising genetic basis for the etiology,diagnosis,and treatment of BA.

关键词： protective analysis. diagnosis

A genomic association study revealing subphenotypes of childhood steroid-sensitive nephrotic syndrome in a larger genomic sequencing cohort

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Genes & Diseases 2024年第4期11卷 400-410页

作者： Han Chan Fenfen Ni Bo Zhao Huimin Jiang Juanjuan Ding Li Wang Xiaowen Wang Jingjing Cui shipin Feng Xiaojie Gao Xueying Yang Huan Chi Hao Lee Xuelan Chen Xiaoqin Li Jia Jiao Daoqi Wu Gaofu Zhang Mo Wang Yupeng Cun Xiongzhong Ruan Haiping Yang Qiu Li Department of Nephrology 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 Nephrology Shenzhen Children's HospitalShenzhenGuangdong 518034China Department of Nephrology Kunming Children's HospitalKunming Medical UniversityKunmingYunnan 650228China Department of Nephrology Wuhan Children's HospitalTongji Medical College of Huazhong University of Science and TechnologyWuhanHubei 430015China Department of Nephrology Chengdu Women and Children Central HospitalChengduSichuan 610073China Pediatric Research Institute Ministry of Education Key Laboratory of Child Development and DisordersNational Clinical Research Center for Child Health and DisordersChina International Science and Technology Cooperation Base of Child Development and Critical DisordersChongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory DisordersChildren's Hospital of Chongqing Medical UniversityChongqing 400014China Department of Nephrology John Moorhead Research LaboratoryUniversity College London Medical SchoolRoyal Free CampusUniversity College LondonLondon NW32PFUnited Kingdom

Dissecting the genetic components that contribute to the two main subphenotypes of steroid-sensitive nephrotic syndrome(ssNs)using genome-wide association studies(GWAs)strategy is important for understanding the *** conducted a multicenter cohort study(360 patients and 1835 controls)combined with a GWAs strategy to identify susceptibility var-iants associated with the following two subphenotypes of ssNs:steroid-sensitive nephrotic syn-drome without relapse(ssNswR,181 patients)and steroid-dependent/frequent relapse nephrotic syndrome(sDNs/FRNs,179 patients).The distribution of two single-nucleotide poly-morphisms(sNPs)in ANKRD36 and ALPG was significant between ssNsWR and healthy controls,and that of two sNPs in GAD1 and HLA-DQA1 was significant between sDNs/FRNs and healthy ***,rs1047989 in HLA-DQA1 was a candidate locus for sDNs/FRNs but not for *** significant sNPs were observed between ssNsWR and sDNs/***,chromosome 2:171713702 in GAD1 was associated with a greater steroid dose(>0.75 mg/kg/d)upon relapse to first remission in patients with sDNs/FRNs(odds ratio=3.14;95%confidence interval,0.97-9.87;P=0.034).rs117014418 in APOL4 was significantly associated with a decrease in eGFR of greater than 20%compared with the baseline in sDNs/FRNs patients(P=0.0001).Protein-protein intersection network construction suggested that HLA-DQA1 and HLA-DQB1 function together through ***,ssNsWR belongs to non-HLA region-dependent nephropathy,and the HLA-DQA/DQB region is likely strongly associated with dis-ease relapse,especially in sDNs/*** study provides a novel approach for the GWAs strategy of ssNs and contributes to our understanding of the pathological mechanisms of ssNsWRandsDNs/FRNs.

关键词： Frequentrelapse Genome-wide association study Human leukocyte antigen region steroid-sensitive nephrotic syndrome

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

systemic immune-inflammation index combined with pediatric appendicitis score in assessing the severity and prognosis for paediatric appendicitis

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World Journal of Gastrointestinal surgery 2024年第8期16卷 2565-2573页

作者： Li-Ming Guo Zhi-Hui Jiang Hong-Zhen Liu Department of General surgery Qingdao Women and Children’s HospitalQingdao 266000Shandong ProvinceChina Department of Pediatric surgery Children's Hospital Affiliated to Shandong UniversityJinan 250022Shandong ProvinceChina Department of Pediatric surgery Jinan Children's HospitalJinan 250022Shandong ProvinceChina

BACKGROUND Pediatric appendicitis is a common cause of abdominal pain in children and is recognized as a significant surgical emergency.A prompt and accurate diagnosis is essential to prevent complications such as perforation and *** To investigate the predictive value of the systemic immune-inflammation index(sII)combined with the pediatric appendicitis score(PAs)for the assessment of disease severity and surgical outcomes in children aged 5 years and older with *** Clinical data of 104 children diagnosed with acute appendicitis were *** participants were categorized into the acute appendicitis group and chronic appendicitis group based on disease presentation and further stratified into the good prognosis group and poor prognosis group based on *** sII and PAs were measured,and a joint model using the combined sII and PAs was constructed to predict disease severity and surgical *** significant differences were observed in the sII and PAs parameters between the acute appendicitis group and chronic appendicitis *** analysis showed associations among the sII,PAs,and disease severity,with the combined sII and PAs model demonstrating significant predictive value for assessing disease severity[aera under the curve(AUC)=0.914]and predicting surgical outcomes(AUC=0.857)in children aged 5 years and older with *** The study findings support the potential of integrating the sII with the PAs for assessing disease severity and predicting surgical outcomes in pediatric appendicitis,indicating the clinical utility of the combined sII and PAs model in guiding clinical decision-making and optimizing surgical management strategies for pediatric patients with appendicitis.

关键词： systemic immune-inflammation index Pediatric appendicitis score Disease severity surgical outcomes Risk factor Logistic regression Receiver operating characteristic analysis

Long-term follow-up of patients with congenital diaphragmatic hernia

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World Journal of Pediatric surgery 2024年第2期7卷 100-109页

作者： Nicole Cimbak Terry L Buchmiller Department of Pediatric surgery Boston Children's HospitalBostonMAUSA

Neonates with congenital diaphragmatic hernia encounter a number of surgical and medical morbidities that persist into *** mortality improves for this population,these survivors warrant specialized follow-up for their unique disease-specific *** congenital diaphragmatic hernia clinics are best positioned to address these complex long-term morbidities,provide long-term research outcomes,and help inform standardization of best practices in this cohort of *** review outlines long-term morbidities experienced by congenital diaphragmatic hernia survivors that can be addressed in a comprehensive follow-up clinic.

关键词： hernia congenital patients

Targeting both ferroptosis and pyroptosis may represent potential therapies for acute liver failure

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World Journal of Gastroenterology 2024年第33期30卷 3791-3798页

作者： Zhong-Yuan Xing Chuan-Jie Zhang Li-Juan Liu Department of Medical Microbiology School of Basic Medical SciencesWuhan UniversityWuhan 430071Hubei ProvinceChina Department of children health Care Wuhan Children’s Hospital(Wuhan Maternal and Child Healthcare Hospital)Tongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430061Hubei ProvinceChina

In this editorial,we comment on the article published in the recent issue of the World Journal of *** liver failure(ALF)is a fatal disease that causes uncontrolled massive hepatocyte death and rapid loss of liver *** and pyroptosis,cell death forms that can be initiated or blocked concurrently,can play significant roles in developing inflammation and various ***,their roles in ALF remain *** article discovered the positive feedback between ferroptosis and pyroptosis in the progression of ALF,and revealed that the silent information regulator sirtuin 1(sIRT1)inhibits both pathways through p53,dramatically reducing inflammation and protecting *** suggests the potential use of sIRT1 and its downstream molecules as therapeutics for ***,we will discuss the role of ferroptosis and pyroptosis in ALF and the crosstalk between these cell death ***,we address potential treatments that could alleviate ALF by simultaneously inhibiting both cell death pathways,as well as examples of sIRT1 activators being used as disease treatment strategies,providing new insights into the therapy of ALF.

关键词： Acute liver failure Ferroptosis Pyroptosis Crosstalk silent information regulator sirtuin 1 P53 Glutathione peroxidase 4 Gasdermin D Treatment

Postoperativeinte rictalepil eptiform discharges predict seizure recurrence after antiepileptic drug withdrawal regardless of concordance with surgical site

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World Journal of Pediatric surgery 2024年第1期7卷 33-41页

作者： Yuxin Wu ZaiYu Zhang Ping Liang Lusheng Li Bin Zou Difei Wang Xinyu Dong Haotian Tang Hanli Qiu Xuan Zhai Department of Neurosurgery Children's Hospital of Chongqing Medical UniversityNational Clinical Research Center for Child Health and DisordersMinistry of Education Key Laboratory of Child Development and DisordersChongqingChina

Objective The study aimed to explore the association between the site of interictal epileptic discharges(IEDs)on postoperative electroencephalogram(EEG)and seizure recurrence after antiepileptic drug(AED)*** study hypothesizes that the concordance of IED sites with surgical sites indicates incomplete resection of epileptic focus,while non-concordance of IED sites with surgical sites indicates postoperative changes or cortical *** former has a higher risk of seizure *** We retrospectively analyzed the postoperative EEG pattern of 182 consecutive children who underwent resection *** identify the risk factors for seizure recurrence,we compared the attributes of seizure recurred and seizure-free groups by univariate and multivariate *** tapering was standardized,involving a 25% reduction in the dose of a single type of AED every 2 weeks,independent of the presurgical AED *** We attempted AED withdrawal in 116(63.7%)***-eight(24.1%)children experienced seizure recurrence during or after AED withdrawal.A greater number of AEDs used at the time of surgery(p=0.005),incomplete resection(p=0.001),and presence of IED on postoperative EEG(p=0.011)are predictors of *** resectionand seizure recurrence after AED withdrawal were related to the presence of IED on the EEG,but not to the concordance of IED with surgical *** For children with abnormal EEG,the decision to discontinue AED should be made more cautiously,regardless of the relative location of the discharge site and the surgical site.

关键词： surgical seizure epileptic

The clinical characteristics and risk factors for necrotizing soft tissue infection in children

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Pediatric Investigation 2024年第1期8卷 21-26页

作者： Jing Liu Jigang Chen Yanni Wang Hongyan Qi Jing Yu Department of Burn and Plastic surgery Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

Importance:Necrotizing soft tissue infection(NsTI)is a serious infectious ***,the early clinical manifestations and indicators of NsTI in children are still ***:The purpose of this study was to analyze the clinical characteristics and risk factors of NsTI in pediatric ***:A total of 127 children with skin and soft tissue infection(ssTI)were treated at our hospital and divided into two groups:the NsTI group and the non-NsTI group,based on their discharge diagnosis from January 2011 to December ***,we collected and analyzed the clinical characteristics and risk factors of all patients,including sex and age,disease inducement,admission temperature,local skin manifestations,infection site,the presence of sepsis,bacterial culture,and laboratory ***:In our study,there was a statistical difference in the age distribution and disease inducement between NsTI and non-NsTI *** occurrence of local skin manifestations(blisters/bullae and ecchymosis)and the presence of sepsis significantly increased in the NsTI group compared to the non-NsTI ***,only the platelet count on laboratory tests was statistically different between the NsTI and non-NsTI ***,the logistic regression analysis suggested that local skin manifestations such as blisters/bullae,and ecchymosis,as well as the presence of sepsis,were identified as risk factors for ***:children with ssTI and skin manifestations such as blisters/bullae,ecchymosis,and the presence of sepsis are at a higher risk of developing *** symptoms serve as useful indicators for early detection of NsTI.

关键词： Clinical characteristics Risk factors Necrotizing soft tissue infection skin andsofttissueinfection