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世界儿科杂志（英文版）
世界儿科杂志（英文版）

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世界儿科杂志（英文版）/Journal World Journal of PediatricsCSCDCSTPCD北大核心SCI
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    A model for early clinical detection of pediatric monogenic lupus:implications for the future of digital medicine

    Wanling Yang
    1103-1104页
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    Neonatal encephalopathy due to suspected hypoxic ischemic encephalopathy:pathophysiology,current,and emerging treatments

    Carina Corte-Real BabboJuanita MelletJeanne van RensburgShakti Pillay...
    1105-1114页
    查看更多>>摘要：Background Neonatal encephalopathy(NE)due to suspected hypoxic-ischemic encephalopathy(HIE),referred to as NESHIE,is a clinical diagnosis in late preterm and term newborns.It occurs as a result of impaired cerebral blood flow and oxygen delivery during the peripartum period and is used until other causes of NE have been discounted and HIE is confirmed.Therapeutic hypothermia(TH)is the only evidence-based and clinically approved treatment modality for HIE.However,the limited efficacy and uncertain benefits of TH in some low-to middle-income countries(LMICs)and the associ-ated need for intensive monitoring have prompted investigations into more accessible and effective stand-alone or additive treatment options.Data sources This review describes the rationale and current evidence for alternative treatments in the context of the patho-physiology of HIE based on literatures from Pubmed and other online sources of published data.Results The underlining mechanisms of neurotoxic effect,current clinically approved treatment,various categories of emerg-ing treatments and clinical trials for NE are summarized in this review.Melatonin,caffeine citrate,autologous cord blood stem cells,Epoetin alfa and Allopurinal are being tested as potential neuroprotective agents currently.Conclusion This review describes the rationale and current evidence for alternative treatments in the context of the patho-physiology of HIE.Neuroprotective agents are currently only being investigated in high-and middle-income settings.Results from these trials will need to be interpreted and validated in LMIC settings.The focus of future research should therefore be on the development of inexpensive,accessible monotherapies and should include LMICs,where the highest burden of NESHIE exists.
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    Recent advances and current status of gene therapy for epilepsy

    Ao-Jie CaiKai GaoFan ZhangYu-Wu Jiang...
    1115-1137页
    查看更多>>摘要：Background Epilepsy is a common neurological disorder with complex pathogenic mechanisms,and refractory epilepsy often lacks effective treatments.Gene therapy is a promising therapeutic option,with various preclinical experiments achieving positive results,some of which have progressed to clinical studies.Data sources This narrative review was conducted by searching for papers published in PubMed/MEDLINE with the fol-lowing single and/or combination keywords:epilepsy,children,neurodevelopmental disorders,genetics,gene therapy,vectors,transgenes,receptors,ion channels,micro RNAs(miRNAs),clustered regularly interspaced short palindromic repeats(CRISPR)/CRISPR-associated protein(Cas)9(CRISPR/Cas9),expression regulation,optogenetics,chemical genet-ics,mitochondrial epilepsy,challenges,ethics,and disease models.Results Currently,gene therapy research in epilepsy primarily focuses on symptoms attenuation mediated by viral vectors such as adeno-associated virus and other types.Advances in gene therapy technologies,such as CRISPR/Cas9,have provided a new direction for epilepsy treatment.However,the clinical application still faces several challenges,including issues related to vectors,models,expression controllability,and ethical considerations.Conclusions Here,we summarize the relevant research and clinical advances in gene therapy for epilepsy and outline the challenges facing its clinical application.In addition to the shortcomings inherent in gene therapy components,the recon-figuration of excitatory and inhibitory properties in epilepsy treatment is a delicate process.On-demand,cell-autonomous treatments and multidisciplinary collaborations may be crucial in addressing these issues.Understanding gene therapy for epilepsy will help clinicians gain a clearer perception of the research progress and challenges,guiding the design of future clinical protocols and research decisions.
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    Association of early follow-up visits with reduced hospital readmissions of newborns:a French population-based data-linkage study

    Camille RavelMarion NimalSteve NauleauDavid Lapalus...
    1138-1144页
    查看更多>>摘要：Background Newborn care guidelines recommend assessments within a week of discharge from maternity care.However,the optimal timing and effectiveness to prevent neonatal hospital readmission are debated.This study aimed to determine the association between early follow-up visits(EFVs)within three days of postpartum discharge and hospital readmission of newborns up to 15 days of life.Methods This population-based data-linkage study used data from the French National Health Care Database."Healthy"singleton term infants with a gestational age(GA)of ≥ 36 weeks,born between January 1,2017,and November 30,2018,in Southern France,were included.A multivariate regression analysis was performed.Results Among the 67,359 included infants,1519(2.25％)were hospitalized.The principal causes of hospitalization were infectious diseases(42.4％)and jaundice or growth/nutrition disorders(36.1％).Hospitalized infants were more likely to be born to young and socioeconomically deprived mothers,to be male(54.4％vs.50.6％,P＜0.001),or born early(GA＜38 weeks;28.5％vs.20.5％,P＜0.001).They received 6％less EFVs than non-hospitalized infants(63.7％vs.67.8％,P＜0.001).The multivariable regression logistic analysis revealed that infants who received EFVs had 13％lower odds of being hospitalized than infants without EFVs,with an adjusted odds ratio of 0.87(95％confidence interval=0.78-0.96;P＜0.01).Conclusion EFVs within three days were associated with a 13％reduction in the rate of neonatal hospital readmission.Therefore,EFVs should be implemented to improve infant health and reduce healthcare costs.
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    Temporal trends in the prevalence of major birth defects in China:a nationwide population-based study from 2007 to 2021

    Wen-Yan LiZhi-Yu ChenWen-Li XuYu-Yang Gao...
    1145-1154页
    查看更多>>摘要：Background Birth defects constitute a significant public health issue worldwide,yet there is a lack of comprehensive population-based data for the Chinese population.Methods We analyzed data from the China National Population-based Birth Defects Surveillance System from 2007 to 2021,we calculated the prevalence rates of selected birth defects,stratified by maternal residence,geographic region,maternal age,and infant sex.The Joinpoint regression model was utilized to assess trends and annual percent changes in prevalence.Results From 2007 to 2021,significant downward trends in prevalence were observed for neural tube defects(NTDs),hydro-cephalus,cleft lip with or without palate(CL/P),limb reduction defects(LRD),omphalocele,Down syndrome,and tetralogy of Fallot(TOF).Conversely,upward trends were identified for hypospadias,cleft palate(CP),microtia/anotia,polydactyly,syndactyly,ventricular septal defect(VSD),atrial septal defect/patent foramen ovale(ASD/PFO),and patent ductus arte-riosus(PDA).Younger mothers exhibited a higher prevalence of hydrocephalus,gastroschisis,CL/P,and polydactyly,while anotia/microtia,Down syndrome,and congenital heart diseases(CHDs)were more common in mothers aged 35 years or older.Significant variations in the prevalence of anencephalus,spina bifida,CL/P,anorectal atresia/stenosis,hypospadias,polydactyly,syndactyly,VSD,ASD/PFO,and PDA were found across different maternal residences and geographic regions.Conclusion This study highlights the diverse trends and prevalence patterns of major birth defects,underscoring the neces-sity for defect-specific public health interventions.
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    LASSO-derived nomogram for early identification of pediatric monogenic lupus

    Tian-Yu ZhangWei WangSi-Hao GaoZhong-Xun Yu...
    1155-1167页
    查看更多>>摘要：Background Monogenic lupus is defined as systemic lupus erythematosus(SLE)/SLE-like patients with either dominantly or recessively inherited pathogenic variants in a single gene with high penetrance.However,because the clinical phenotype of monogenic SLE is extensive and overlaps with that of classical SLE,it causes a delay in diagnosis and treatment.Cur-rently,there is a lack of early identification models for clinical practitioners to provide early clues for recognition.Our goal was to create a clinical model for the early identification of pediatric monogenic lupus,thereby facilitating early and precise diagnosis and treatment for patients.Methods This retrospective cohort study consisted of 41 cases of monogenic lupus treated at the Department of Pediatrics at Peking Union Medical College Hospital from June 2012 to December 2022.The control group consisted of classical SLE patients recruited at a 1∶2 ratio.Patients were randomly divided into a training group and a validation group at a 7∶3 ratio.A logistic regression model was established based on the least absolute shrinkage and selection operator to generate the coefficient plot.The predictive ability of the model was evaluated using receiver operator characteristic curves and the area under the curve(AUC)index.Results A total of 41 cases of monogenic lupus patients and 82 cases of classical SLE patients were included.Among the monogenic lupus cases(with a male-to-female ratio of 1∶1.05 and ages of onset ranging from birth to 15 years),a total of 18 gene mutations were identified.The variables included in the coefficient plot were age of onset,recurrent infections,intracranial calcifications,growth and developmental delay,abnormal muscle tone,lymphadenopathy/hepatosplenomegaly,and chilblain-like skin rash.Our model demonstrated satisfactory diagnostic performance through internal validation,with an AUC value of 0.97(95％confidence interval=0.92-0.97).Conclusions We summarized and analyzed the clinical characteristics of pediatric monogenic lupus and developed a pre-dictive model for early identification by clinicians.Clinicians should exercise high vigilance for monogenic lupus when the score exceeds-9.032299.
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    Maternal diseases and congenital anomalies of the kidney and urinary tract in offspring:a cohort study

    Qiang MaYa-Qi LiQing-Tang MengBo Yang...
    1168-1178页
    查看更多>>摘要：Background Congenital anomalies of the kidneys and urinary tract(CAKUT)are the most common cause of prenatally diagnosed developmental malformation.This study aimed to assess the relationship between maternal diseases and CAKUT in offspring.Methods This retrospective study enrolled all pregnant women registered from January 2020 to December 2022 at one medical center.Medical information on maternal noncommunicable diseases,including obesity,hypertension,diabetes mellitus,kidney disease,hyperthyroidism,hypothyroidism,psychiatric disease,epilepsy,cancer,and autoimmune disease was collected.Based on the records of ultrasound scanning during the third trimester,the diagnosis was classified as isolated urinary tract dilation(UTD)or kidney anomalies.Multivariate logistic regression was performed to establish models to predict antenatal CAKUT.Results Among the 19,656 pregnant women,perinatal ultrasound detected suspicious CAKUT in 114(5.8/1000)fetuses,comprising 89 cases with isolated UTD and 25 cases with kidney anomalies.The risk of antenatal CAKUT was increased in the fetuses of mothers who experienced gestational diabetes,thyroid dysfunction,neuropsychiatric disease,anemia,ovarian and uterine disorders.A prediction model for isolated UTD was developed utilizing four confounding factors,namely gesta-tional diabetes,gestational hypertension,maternal thyroid dysfunction,and hepatic disease.Similarly,a separate prediction model for kidney anomalies was established based on four distinct confounding factors,namely maternal thyroid dysfunction,gestational diabetes,disorders of ovarian/uterine,and kidney disease.Conclusions Isolated UTD and kidney anomalies were associated with different maternal diseases.The results may inform the clinical management of pregnancy and highlight potential differences in the genesis of various subtypes of CAKUT.
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    Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing

    Jun-Jun QiuXing-Yu ChangNing ZhangLuo-Pei Guo...
    1179-1195页
    查看更多>>摘要：Background Congenital malformations of the female genital tract(CM-FGT)are characterized by abnormal development of the fallopian tubes,uterus,and vagina,often accompanied by malformations in the urinary system,bones and hearing.However,no definitive pathogenic genes and molecular genetic causes have been identified.Methods We present the largest whole-genome sequencing study of CM-FGT to date,analyzing 590 individuals in China:95 patients,442 case-controls,and 53 familial controls.Results Among the patients,5.3％carried known CM-FGT-related variants.Pedigree and case-control analyses in two dimensions of coding and non-coding regulatory regions revealed seven novel de novo copy number variations,12 rare single-nucleotide variations,and 10 rare 3'untranslated region(UTR)mutations in genes related to CM-FGT,particularly highlighting ASH1L as a pathogenic gene.Single-cell sequencing data showed that the majority of CM-FGT-related risk genes are spatiotemporally specifically expressed early in uterus development.Conclusions In conclusion,this study identified novel variants related to CM-FGT,particularly highlighting ASH1L as a pathogenic gene.The findings provide insights into the genetic variants underlying CM-FGT,with single-cell sequencing data revealing spatiotemporal specific expression patterns of key risk genes early in uterine development.This study significantly advances the understanding of CM-FGT etiology and genetic landscape,offering new opportunities for prenatal screening.
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    Maternal health and fetal development:investigating the connection between maternal diseases and congenital anomalies of the kidneys and urinary tract

    Wei-Zhen TangKang-Jin HuangTai-Hang Liu
    1196-1197页
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    Reply to"maternal health and fetal development:investigating the connection between maternal diseases and congenital anomalies of the kidneys and urinary tract"

    Qiang MaYa-Qi LiQing-Tang MengBo Yang...
    1198-1199页
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