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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

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spotlight on eltrombopag concentration in pediatric immune thrombocytopenia:A single-center observational study in China

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Pediatric Investigation 2024年第1期8卷 44-52页

作者： shuyue Dong Zhifa Wang Nan Wang Jingyao Ma Jinxi Meng Yixin sun Xiaoling Cheng Runhui Wu Hematology Oncology Center Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Pharmacy Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

Importance:Eltrombopag has been recommended for pediatric immune thrombocytopenia(ITP).Response and adverse drug reactions(ADRs)varied widely between individuals,even at the same dose of *** appropriate eltrombopag concentration in ITP has not been ***:This study aims to explore the appropriate eltrombopag concentration in pediatric ***:This was a single-center,prospective cohort *** diagnosed with refractory persistent/chronic ITP and platelet countst 2 *** was detected by high-performance liquid chromatography-mass spectrometry at least 2 weeks after *** clinical characteristics-concentration,concentration-response,and concentration-ADRs were ***:A total of 30 patients were enrolled,comprising 13 males and 17 females,with a median age of 72(45-94)*** median dose and concentration were 1.39(1.09-1.56)mg/kg and 2.70(2.25-4.13)mg/L,*** the enrolled patients,14 responded to treatment,whereas 16 did ***,five experienced adverse drug *** linear correlation was observed between eltrombopag concentration and clinical *** concentration was lower in the response group than in the nonresponse group,but there was no significant difference(t=0.755,P=0.457).Patients who experienced ADRs had a higher concentration than those without ADRs(t=2.538,P=0.017).The area under the receiver operating characteristic curve of ADRs was 0.78(95%confidence interval:0.56-1.00).Youden’s index identified the cutoff point as 4.33 mg/L,with a sensitivity of 88%and a specificity of 60%.Logistic regression analysis demonstrated that a higher platelet count before eltrombopag predicted a favorable ***:Eltrombopag proves efficacious and well-tolerated for treating pediatric ***,prolonged and high-dose administration may increase the likelihood of ***,examining

关键词： Concentration Efficacy Eltrombopag Immune thrombocytopenia Pedi-atrics safety

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somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis

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Pediatric Investigation 2024年第2期8卷 117-125页

作者： Bin Zhang Rui He Riga Wu Zhou Yang Man Hu Nan Zhang Wu Guo Zigang Xu Lin Ma Department of Dermatology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Dermatology Zhengzhou UniversityAffiliated Children’s HospitalHenan Children’s HospitalZhengzhou Children’s HospitalZhengzhouChina Department of Dermatology Affiliated Hospital of Inner Mongolia Medical UniversityHohhotChina Department of Ophthalmology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Department of Pathology Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

Importance:Postzygotic mutations in the GNAQ/GNA11 genes,which encode the G-protein nucleotide binding protein alpha subunits,have been identified in patients with phakomatosis pigmentovascularis(PPV).However,little is known about the Chinese ***:To identify pathogenic mutations in pediatric patients with PPV within the Chinese ***:We performed whole-exome sequencing(WEs)using skin lesion tissues from pediatric patients diagnosed with ***,ultradeep-targeted sequencing was conducted to validate the somatic mutations.A genotype-phenotype correlation was analyzed by integrating data from previous reports with the findings of the present ***:Thirteen patients were enrolled,all diagnosed with the cesioflammea type of PPV,except for one patient with an unclassifiable *** identified somatic GNA11 c.547C>T(p.R183C)variant in seven patients and GNAQ c.548G>A(p.R183Q)in four patients,with low allelic fractions ranging from 2.1%to 8.6%through ultradeep ***,a GNAQ c.548G>A(p.R183Q)variant was detected through targeted sequencing in one of two patients who did not exhibit detectable variants via *** genotype-phenotype correlation analysis,involving 15 patients with a GNA11 variant and 10 with a GNAQ variant,revealed that facial capillary malformation(87%vs.50%,P=0.075)and ocular melanocytosis(80%vs.40%,P=0.087)appeared to be more frequent in patients with GNA11 mutation compared to those with GNAQ *** four patients diagnosed with cesiomarmorata type or overlapping cesioflammea and cesiomarmorata type PPV carried the GNA11 ***:Our study demonstrated that the majority of PPV patients in the Chinese population carried a postzygotic variant of GNAQ/GNA11,thus further confirming the pathogenic role of GNAQ/GNA11 mosaicism in the development of PPV cesioflammea type.

关键词： Phakomatosis pigmentovascularis GNA11 GNAQ somatic variant

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Changes in Maternal socio-Demographic Characteristics and Pregnancy Outcomes Across Monitoring Regions-six Provinces,China,2016-2022

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China CDC weekly 2024年第31期6卷 772-777页

作者： Yuting Qiao Jiangli Di Aiqun Huang Huanqing Hu sidi Chen Wei Zhao National Center for Women and children’s health National Health Commission of the People’s Republic of ChinaBeijingChina

summary What is already known about this topic?In recent years,there has been a significant increase in the proportion of women of advanced maternal age(AMA),accompanied by a rise in adverse pregnancy outcomes in certain regions of *** is added by this report?From 2016 to 2022,there was an observed increase in the proportion of AMA,educational levels,and incidences of preterm birth and low birth weight(LBW)in both primiparous and multiparous ***,there was a declining trend in the rate of cesarean deliveries and the incidence of macrosomia among multiparous *** are the implications for public health practice?In addition to focusing on health management for AMA individuals,proactive steps should be undertaken to enhance the quality of medical services and promote childbirth at optimal ages,thereby reducing the incidence of adverse pregnancy outcomes.

关键词： thereby steps birth

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Fertility Intentions Among Reproductive-Age Women-Three Provinces,China,2023

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China CDC weekly 2024年第31期6卷 778-785页

作者： Yuting Qiao Jiangli Di sidi Chen Huanqing Hu National Center for Women and children’s health National Health Commission of the People’s Republic of ChinaBeijingChina

summary What is already known about this topic?Low fertility rates have become the most important risk affecting the balanced development of the population in *** is added by this report?About 80.0%of childless women had fertility intentions,31.9%of women with one child and 11.3%of women with two children intended to have a second and third child,*** with one child who had an agricultural Hukou*,were younger than 30 years old,were remarried,and had received a deduction or reimbursement for childbirth expenses during their first delivery were more willing to have a second *** with two children who had an agricultural Hukou and a upper-middle personal income,were selfemployed,and had two daughters were more willing to have a third *** are the implications for public health practice?In China,women’s willingness to have more children is not *** increase their desire for more children,creating a more favorable fertility environment for reproductive-age women and providing more preferential fertility policies for pregnant women will be necessary.

关键词： younger daughter income

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Pathogens of first-episode pulmonary infection in 141 children with chronic granulomatous disease

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Chinese Medical Journal 2024年第4期137卷 502-504页

作者： Hui Liu shunying Zhao Haiming Yang Jinrong Liu Hui Xu Xiaolei Tang Yuelin shen Xiaoyan Zhang Xiaohui Wen Yuhong Zhao Ping Chu Huimin Li Department of second Respiratory Medicine National Clinical Research Center for Respiratory DiseasesBeijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China Office of scientific Research Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijing 100045China

To the Editor:Chronic granulomatous disease(CGD)is an inherited primary immunodeficiency disease characterized by recurrent life-threatening bacterial or fungal infection and tissue granuloma formation.^([1])Pulmonary infection is the most frequent manifestation,affecting nearly 80%of patients,[2]and remains the major cause of morbidity and mortality in patients with *** of the pathogenic microorganisms responsible for first-episode pulmonary infection provide information on the spectrum of infection in patients with CGD,help guide the empirical choice of antibiotics or antifungal therapy,and contribute to the early identification and management of *** is the commonest causative agent of pulmonary infection,but the distribution of other pathogens varies among countries.^([2–5])Few studies have investigated the etiology of pulmonary infection in CGD in a large cohort in China.

关键词： granuloma infection mortality

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Diagnose and treatment for Type D congenital esophageal atresia with tracheoesophageal fistula

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Pediatric Investigation 2024年第1期8卷 37-43页

作者： Dingding Wang Yong Zhao Yanan Zhang Kaiyun Hua Yichao Gu shuangshuang Li Junmin Liao shen Yang Ting Yang Jiawei Zhao Jinshi Huang Department of Neonatal surgery Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina

mportance:Type D esophageal atresia(EA)with tracheoesophageal fistula(TEF)is characterized by EA with both proximal and distal *** is a rare congenital anomaly with a very low ***:To investigate diagnostic and treatment strategies for this rare ***:We retrospectively reviewed the clinicopathological features of patients with EA/TEF treated at our institution between January 2007 and september ***:Among 386 patients with EA/TEF,14(3.6%)had type D EA/*** two patients were diagnosed with proximal TEF *** patients were diagnosed *** patients were missed for diagnosis during the initial surgery but was later confirmed by *** the neonatal period,seven patients underwent a one-stage repair of proximal and distal TEF via thoracoscopy or *** to missed diagnosis and other reasons,the other 7 patients underwent two-stage surgery for repair of the proximal TEF,including cervical incision and *** of the 14 patients experienced postoperative complications including anastomotic leakage,pneumothorax,esophageal stricture,and *** who underwent one-stage repair of distal and proximal TEF during the neonatal period showed a higher incidence of anastomotic leak(4/7).In contrast,only one of seven patients with two-stage repair of the proximal TEF developed an anastomotic ***:Type D EA/TEF is a rare condition,and proximal TEFs are easily *** may aim to diagnose and determine the correct surgical approach.A cervical approach may be more suitable for repairing the proximal TEF.

关键词： Diagnosis Therapy Tracheoesophageal fistula Type D congenital esophageal atresia

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Enhancing Diagnosis and Treatment Adjustments for Travelers Infected with Burkholderia pseudomallei:A Case Report-Beijing Municipality,China,June 2023

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China CDC weekly 2024年第25期6卷 614-616页

作者： shijie Li Yushan He Yiyang Mao Jun Liu Wenmiao Xu suyun Qian Quan Wang Pediatric Intensive Care Unit Beijing Children’s HospitalCapital Medical UniversityNational Center for Children’s HealthBeijingChina Capital Medical University BeijingChina

summary What is already known about this topic?Burkholderia pseudomallei(BP)infection leads to melioidosis,a tropical disease endemic to coastal provinces of southern *** in nonendemic areas,do not commonly consider this disease as a primary differential diagnosis for febrile *** is added by this report?This article discusses a case of melioidosis in Northern *** patient,who had recently visited a southeast Asian region with high melioidosis prevalence,fell ill after exposure to contaminated *** disease progressed quickly and with *** are the implications for public health practice?healthcare workers need to remain vigilant regarding travel-related diseases for accurate differential diagnosis and to provide timely and effective treatment,especially for patients with recent travel history or symptoms during travel.

关键词： diagnosis China. travel

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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

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Bilateral globus pallidus internus-deep brain stimulation in a 5-year-old boy with sGCE-related myoclonus dystonia syndrome

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Pediatric Investigation 2024年第2期8卷 154-156页

作者： Xiaojuan Tian Changhong Ding Ming Liu Lifang Dai Zixing Xie Tie Fang Department of Neurology Neurological CenterBeijing Children’s HospitalCapital Medical UniversityNational Center For Children’s HealthBeijingChina Department of Functional Neurosurgery Neurological CenterBeijing Children’s HospitalCapital Medical UniversityNational Center For Children’s HealthBeijingChina

To the editor:Myoclonus-dystonia syndrome(MDs)(OMIM15990)is a heritable disorder characterized by early onset subcortical myoclonic jerks and/or less prominent *** leads to disability and is often refractory to medical treatment.1 Deep brain stimulation(DBs)for the treatment of refractory MDs has been proven effective in adults for reducing both myoclonic jerks and dystonia.1,2,3 Here,we describe the application of bilateral globus pallidus internus(GPi)DBs in a 5-year-old boy diagnosed with MDs.

关键词： globus editor Deep

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