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Circulating microRNA expression and nonalcoholic fatty liver disease in adolescents with severe obesity

World Journal of Gastroenterology 2024年第4期30卷 332-345页

作者： Yi-Jie Li Brittney O Baumert Nikos stratakis Jesse A Goodrich Hao-Tian Wu Jing-Xuan He Yin-Qi Zhao Max T Aung Hong-Xu Wang sandrah P Eckel Douglas I Walker Damaskini Valvi Michele A La Merrill Justin R Ryder Thomas H Inge Todd Jenkins stephanie sisley Rohit Kohli stavra A Xanthakos Andrea A Baccarelli Rob McConnell David V Conti Lida Chatzi Department of Population and Public health sciences Keck School of MedicineUniversity of Southern CaliforniaLos AngelesCA 90032United States Barcelona Institute of Global health Barcelona Institute of Global HealthBarcelona 08036Spain Department of Environmental health sciences Mailman School of Public HealthColumbia UniversityNew YorkNY 10032United States Gangarosa Department of Environmental health Rollins School of Public HealthEmory UniversityAtlantaGA 30329United States Department of Environmental Medicine and Public health Icahn School of Medicine at Mount SinaiNew YorkNY 10029United States Department of Environmental Toxicology University of CaliforniaDavisCA 95616United States Department of surgery Lurie Children’s Hospital of ChicagoChicagoIL 60611United States Northwestern University Feinberg school of Medicine Northwestern UniversityChicagoIL 60611United States Division of Biostatistics and Epidemiology Cincinnati Children's Hospital Medical CenterCincinnatiOH 45229United States Department of Pediatrics University of Cincinnati College of MedicineCincinnatiOH 45229United States Department of Pediatrics Children’s Nutrition Research Center USDA/ARSBaylor College of MedicineHoustonTX 77030United States Department of Gastroenterology Children’s Hospital Los AngelesLos AngelesCA 90027United States Division of Gastroenterology Hepatology and NutritionCincinnati Children's Hospital Medical CenterCincinnatiOH 45229United States

BACKGROUND Nonalcoholic fatty liver disease(NAFLD)is one of the most common chronic liver diseases in children and *** ranges in severity from isolated hepatic steatosis to nonalcoholic steatohepatitis(NAsH),wherein hepatocellular inflammation and/or fibrosis coexist with *** microRNA(miRNA)levels have been suggested to be altered in NAFLD,but the extent to which miRNA are related to NAFLD features remains *** analysis tested the hypothesis that plasma miRNAs are significantly associated with histological features of NAFLD in *** To investigate the relationship between plasma miRNA expression and NAFLD features among adolescents with *** This study included 81 adolescents diagnosed with NAFLD and 54 adolescents without NAFLD from the Teen-Longitudinal Assessment of Bariatric surgery ***-operative core liver biopsies were collected from participants and used to characterize histological features of *** samples were collected during surgery for miRNA profiling.A total of 843 plasma miRNAs were profiled using the HTG Edgeseq *** examined associations of plasma miRNAs and NAFLD features using logistic regression after adjusting for age,sex,race,and other key *** Pathways Analysis was used to identify biological functions of miRNAs that were associated with multiple histological features of *** We identified 16 upregulated plasma miRNAs,including miR-193a-5p and miR-193b-5p,and 22 downregulated plasma miRNAs,including miR-1282 and miR-6734-5p,in adolescents with ***,52,16,15,and 9 plasma miRNAs were associated with NAsH,fibrosis,ballooning degeneration,and lobular inflammation,***,16 miRNAs were associated with two or more histological features of *** those miRNAs,miR-411-5p was downregulated in NAsH,ballooning,and fibrosis,while miR-122-5p,miR-1343-5p,miR-193a-5p,miR-193b-5p,and miR-7845-5p were consistently and posi

关键词： MicroRNA Nonalcoholic fatty liver disease Non-alcoholic steatohepatitis Liver fibrosis Lobular inflammation Ballooning degeneration

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single-cell RNA sequencing in juvenile idiopathic arthritis

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Genes & Diseases 2024年第2期11卷 633-644页

作者： Xiwen Luo Xuemei Tang Department of Rheumatology and Immunology Children’s Hospital of Chongqing Medical UniversityChongqing 400014China Chongqing Key Laboratory of Child Infection and Immunity 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 DisordersChildren's Hospital of Chongqing Medical UniversityChongqing 400014China

Juvenile idiopathic arthritis (JIA) is one of the most common chronic inflammatory rheumatic diseases in children,with onset before age 16 and lasting for more than 6 *** is a highly heterogeneous condition with various consequences for health and quality of *** some JIA patients,early detection and intervention remain *** a result,further investigation of the complex and unknown mechanisms underlying JIA is *** in technology now allow us to describe the biological heterogeneity and function of individual cell populations in *** this review,we hope to provide novel ideas and potential targets for the diagnosis and treatment of JIA by summarizing the current findings of single-cell RNA sequencing studies and understanding how the major cell subsets drive JIA pathogenesis.

关键词： Juvenile idiopathic arthritis Macrophage Macrophage activation syndrome Monocyte single-cell RNA sequencing synoviocyte T cell

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Machine Learning-Based Intelligent Auscultation Techniques in Congenital Heart Disease:Application and Development

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Congenital Heart Disease 2024年第2期19卷 219-231页

作者： Yang Wang Xun Yang Mingtang Ye Yuhang Zhao Runsen Chen Min Da Zhiqi Wang Xuming Mo Jirong Qi Department of Cardiothoracic surgery Children’s Hospital of Nanjing Medical UniversityNanjingChina

Congenital heart disease(CHD),the most prevalent congenital ailment,has seen advancements in the“dual indi-cator”screening *** facilitates the early-stage diagnosis and treatment of children with CHD,subse-quently enhancing their survival *** cardiac auscultation offers an objective reflection of cardiac abnormalities and function,its evaluation is significantly influenced by personal experience and external factors,rendering it susceptible to misdiagnosis and *** recent years,continuous progress in artificial intelli-gence(AI)has enabled the digital acquisition,storage,and analysis of heart sound signals,paving the way for intelligent CHD auscultation-assisted diagnostic *** there has been a surge in studies based on machine learning(ML)within CHD auscultation and diagnostic technology,most remain in the algorithmic research phase,relying on the implementation of specific datasets that still await verification in the clinical *** paper provides an overview of the current stage of AI-assisted cardiac sounds(Cs)auscultation technology,outlining the applications and limitations of AI auscultation technology in the CHD *** aim is to foster further development and refinement of AI auscultation technology for enhanced applications in CHD.

关键词： Congenital heart disease heart sound auscultation artificial intelligence machine learning

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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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Current Mycoplasma pneumoniae epidemic among children in shanghai:unusual pneumonia caused by usual pathogen

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World Journal of Pediatrics 2024年第1期20卷 5-10页

作者： Xiao-Bo Zhang Wen He Yong-Hao Gui Quan Lu Yong Yin Jian-Hua Zhang Xiao-Yan Dong Ying-Wen Wang Ying-Zi Ye Hong Xu Jia-Yu Wang Bing shen Dan-Ping Gu Li-Bo Wang Yi Wang Department of Respiratory Medicine Children's Hospital of Fudan University399 Wanyuan RoadShanghai 201102China state Key Laboratory of Genetic Engineering at school of Life sciences Institute of Reproduction&DevelopmentChildren's Hospital of Fudan UniversityShanghaiChina Department of Respiratory Medicine Children's Hospital of Shanghai Jiao Tong UniversityShanghaiChina Department of Respiratory Medicine Shanghai Children's Medical CenterAffiliated to Shanghai Jiaotong University School of MedicineShanghaiChina Department of Pediatric Respiratory Xinhua HospitalAffiliated to Shanghai Jiaotong University School of MedicineShanghaiChina Department of Nursing Children's Hospital of Fudan UniversityShanghaiChina Department of Infectious Diseases Children's Hospital of Fudan UniversityShanghaiChina Department of Nephrology Children's Hospital of Fudan UniversityShanghaiChina NHC Key Laboratory of Neonatal Diseases Children's Hospital of Fudan UniversityShanghaiChina shanghai shenkang Hospital Development Center ShanghaiChina Center for Medical Quality Control Management of shanghai ShanghaiChina Department of Neurology Children's Hospital of Fudan University399Wanyuan RoadShanghai 201102China

Mycoplasma pneumoniae(***),primarily transmitted through respiratory droplets when infected individuals cough or sneeze,is a common cause of communityacquired pneumonia,especially among school-age children and *** infection occurs endemically with an epidemic peak every few *** worldwide incidence confirmed by direct test methods was reported to be 8.61%between 2017 and 2020 across all age groups[1].

关键词： pneumonia epidemic respiratory

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Effects of hormone replacement therapy on mood and sleep quality in menopausal women

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World Journal of Psychiatry 2024年第7期14卷 1087-1094页

作者： Qing Liu Zhen Huang Ping Xu Department of Gynecology Ganzhou Women’s and Children’s HospitalGanzhou 341000Jiangxi ProvinceChina

BACKGROUND Hormone replacement therapy is an effective treatment strategy for the management of symptoms in naturally menopausal ***,some patients report experiencing adverse *** To analyze the effects of hormone replacement therapy in menopausal female *** A total of 152 menopausal female patients admitted to the Gynecology Department of the Ganzhou Maternal and Child health Hospital between January 2021 and December 2023 were divided into the observation group(n=76,conventional treatment+hormone replacement therapy)and the control group(n=76,conventional treatment only)via random *** improvement observed in the following items were compared between the groups:Kupperman menopausal index(KMI),emotional state[The Positive and Negative Affect scale(PANAs)],sleep quality[self-Rating scale of sleep(sRss)],treatment effectiveness,and treatment *** The modified KMI and sRss scores of the observation group were lower than those of the control group after three rounds of *** improvement in the PANAs score observed in the observation group was greater than that observed in the control group(Pservation group was higher than that in the control group(86.84%vs 96.05%,χ2=4.121,P=0.042).The incidence rate of adverse reactions in the two groups was comparable(6.58%vs 9.21%,χ2=0.361,P=0.547).CONCLUsION Hormone replacement therapy effectively improved the clinical symptoms,actively channeled negative emotions,and improved the quality of sleep in menopausal patients,indicating its effectiveness and safety.

关键词： Hormone replacement therapy Menopause Women Mood states sleep quality sex hormones

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Association of initial assessment variables and mortality in severe pediatric traumatic brain injury

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World Journal of Pediatric surgery 2024年第2期7卷 125-133页

作者： Katherine C Bergus Kelli N Patterson Lindsey Asti Josh Bricker Tariku J Beyene Lauren N schulz Dana M schwartz Rajan K Thakkar Eric A sribnick Pediatric surgery Nationwide Children's HospitalColumbusOhioUSA Centerforsurgical Outcomes Research Nationwide Children's HospitalColumbusOhioUSA Neurologic surgery The Ohio State UniversityColumbusOhioUSA Neurologic surgery Nationwide Children's HospitalColumbusOhioUSA

Background Predictive scales have been used to prognosticate long-term outcomes of traumatic brain injury(TBI),but gaps remain in predicting mortality using initial trauma resuscitation *** sought to evaluate the association of clinical variables collected during the initial resuscitation of intubated pediatric severe patients with TBI with in-hospital *** Intubated pediatric trauma patientss with severe TBI(Glasgow coma scale(GCs)score≤8)from January 2011 to December 2020 were *** between initial trauma resuscitation variables(temperature,pulse,mean arterial blood pressure,GCs score,hemoglobin,international normalized ratio(INR),platelet count,oxygen saturation,end tidal carbon dioxide,blood glucose and pupillary response)and mortality were evaluated with multivariable logistic *** Among 314 patients,median age was 5.5 years(interquartile range(IQR):2.2-12.8),GCs score was 3(IQR:3-6),Head Abbreviated Injury score(hAIs)was 4(IQR:3-5),and most had a severe(25-49)Injury severity score(Iss)(48.7%,153/314).Overall mortality was 26.8%.GCs score,hAIs,Iss,INR,platelet count,and blood glucose were associated with in-hospital mortality(all ps age and GCs score increased,the odds of mortality *** 1-point increase in GCs score was associated with a 35%decrease in odds of *** hAIs,INR,and blood glucose increased,the odds of mortality *** each 1.0 unit increase in INR,the odds of mortality increased by 1427%.Conclusions Pediatric patients with severe TBI are at substantial risk for in-hospital *** are needed to examine whether earlier interventions targeting specific parameters of INR and blood glucose impact mortality.

关键词： mortality pediatric traumatic

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Ketogenic diet therapy in children with epilepsy caused by sLC2A1 mutations:a single-center single-arm retrospective study

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World Journal of Pediatrics 2024年第5期20卷 517-524页

作者： Ying-Yan Wang Yun-Qing Zhou Li-Juan Luo Cui-Jin Wang Nan shen Hao Li Ji-Wen Wang Department of Neurology Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Department of Infectious Diseases Shanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina Clinical Research Ward Clinical Research CenterShanghai Children’s Medical CenterSchool of MedicineShanghai Jiao Tong UniversityShanghaiChina

Background This retrospective study assessed the efficacy and safety of ketogenic diet therapies in children with epilepsy caused by sLC2A1 genetic mutations and glucose transporter type 1 deficiency *** Pediatric patients with epilepsy symptoms admitted to our medical center between January 2017 and October 2021 were included if they presented with an sLC2A1 genetic mutation on whole-exome *** analyzed the patients’convulsions and treatment with antiepileptic *** patients were followed up at different time periods after ketogenic diet *** six patients with sLC2A1 mutations were included in this *** patients had seizures of different types and frequencies,and they took antiepileptic drugs to relieve their *** were then treated with a ketogenic diet for at least four *** analyzed epilepsy control rates at 1,2,3,6,and 12 months after ketogenic diet *** patients were seizure-free within a month of receiving the diet *** patients were followed up for six months,three were followed up for 12 months after the treatment,and there was no recurrence of epilepsy during this *** antiepileptic drug withdrawal,none of the patients experienced seizure relapse when receiving ketogenic diet treatment *** severe adverse events occurred during the *** Ketogenic diet therapy is very effective and safe for the treatment of epilepsy caused by sLC2A1 ***,patients with glucose transporter type 1 deficiency syndrome caused by sLC2A1 mutations should begin ketogenic diet treatment as soon as possible.

关键词： Epilepsy Glucose transporter type 1 Ketogenic diet sLC2A1

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health risk assessment of trace metal(loid)s in agricultural soils based on Monte Carlo simulation coupled with positive matrix factorization model in Chongqing, southwest China

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Journal of Mountain science 2024年第1期21卷 100-112页

作者： MA Jie CHU Lijuan sUN Jing WANG shenglan GE Miao DENG Li Chongqing Ecological and Environmental Monitoring Center Chongqing 401147China Key Laboratory of Organic Pollutants in Environmental Chemical Behavior and Ecological Toxicology of Chongqing Chongqing 401147China Department of Pediatrics Chongqing Health Center for Women and ChildrenChongqing 401147China Department of Pediatrics Women and Children’s Hospital of Chongqing Medical UniversityChongqing 401147China

This study aimed to investigate the pollution characteristics, source apportionment, and health risks associated with trace metal(loid)s(TMs) in the major agricultural producing areas in Chongqing, China. We analyzed the source apportionment and assessed the health risk of TMs in agricultural soils by using positive matrix factorization(PMF) model and health risk assessment(HRA) model based on Monte Carlo simulation. Meanwhile, we combined PMF and HRA models to explore the health risks of TMs in agricultural soils by different pollution sources to determine the priority control factors. Results showed that the average contents of cadmium(Cd), arsenic (As), lead(Pb), chromium(Cr), copper(Cu), nickel(Ni), and zinc(Zn) in the soil were found to be 0.26, 5.93, 27.14, 61.32, 23.81, 32.45, and 78.65 mg/kg, respectively. spatial analysis and source apportionment analysis revealed that urban and industrial sources, agricultural sources, and natural sources accounted for 33.0%, 27.7%, and 39.3% of TM accumulation in the soil, respectively. In the HRA model based on Monte Carlo simulation, noncarcinogenic risks were deemed negligible(hazard index sks were at acceptable level(10^(-6)sk ≤ 10^(-4)), with higher risks observed for children compared to adults. The relationship between TMs, their sources, and health risks indicated that urban and industrial sources were primarily associated with As, contributing to 75.1% of carcinogenic risks and 55.7% of non-carcinogenic risks, making them the primary control factors. Meanwhile, agricultural sources were primarily linked to Cd and Pb, contributing to 13.1% of carcinogenic risks and 21.8% of non-carcinogenic risks, designating them as secondary control factors.

关键词： Monte Carlo simulation health risk assessment Trace metal(loid)s Positive matrix factorization Agricultural soils

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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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