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Nutritional and lipid profile status of children with spinal muscular atrophy in China: A retrospective case-control study

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中华医学杂志(英文版) 2024年第10期137卷 1243-1245页

作者： Feng Yijie Wei Jia Yao Mei Jin Jianing Cui Yiqin Long Qi Chen Fei Hong Yi Zhou Dongming Hu Jingjing Chen Xiao Gao Feng Yuan Changzheng Mao Shanshan Department of Neurology Children’s Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China Department of Infection Children’s Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China Department of Nutrition Children’s Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China Children’s Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China school of Public health Zhejiang University School of Medicine Hangzhou Zhejiang China Children’s Hospital School of Public Health Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China

5q spinal muscular atrophy (5qSMA) is an autosomal recessive neuromuscular disorder caused by the lack of the survival motor neuron (SMN) protein encoded by the SMN1 gene, located at 5q11.2-q13.3.[1] The incidence is 1/10,000-1/6000 live births, and the mutation carrier rate in China is 1/42.[1] Spinal muscular atrophy (SMA) is mainly divided into four subtypes: SMA type I, II, III, and IV, based on the motor milestones ever achieved. Types I-III occur in children,[1] which often result in progressive muscular atrophy and weakness as well as multi-system dysfunction, including nutritional and metabolic issues.[2] Children with SMA may have hidden nutritional and lipid imbalances, despite normal body appearance and anthropometric measurements, making it difficult to detect early and intervene. Fewer studies have elucidated both the nutritional status and lipid metabolism in SMA patients,[2] especially in Asia, which may have some of the highest numbers of SMA patients in the world. To inform the development of targeted nutritional management strategies, this study aimed to investigate the nutritional status and serum lipid profile characteristics in children with SMA, based on a hospital-based case-control study in China. This study was approved by the Ethics Committee of Children's Hospital of Zhejiang University school of Medicine (No. 2019-IRB-171). Written informed consent was obtained from all the patients and their legal guardians.

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Protein Arginine Methyltransferase 1 Ablation in Motor Neurons Causes Mitochondrial Dysfunction Leading to Age-related Motor Neuron Degeneration with Muscle Loss

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research 2024年第1期2023卷 637-649页

作者： Hyun-Kyung So Hyebeen Kim Jinwoo Lee Chang-Lim You Chae-Eun Yun Hyeon-Ju Jeong Eun-Ju Jin Yunju Jo Dongryeol Ryu Gyu-Un Bae Jong-Sun Kang Department of Molecular Cell Biology Sungkyunkwan University School of MedicineSuwonKorea Single Cell Network research.Center Sungkyunkwan University School of MedicineSuwonKorea research.Institute of Aging-related Diseases AniMusCureInc.SuwonKorea Drug Information research.Institute Muscle Physiome Research CenterCollege of PharmacySookmyung Women’s UniversitySeoulKorea

Neuromuscular dysfunction is tightly associated with muscle wasting that occurs with age or due to degenerative diseases.However,the molecular mechanisms underlying neuromuscular dysfunction are currently unclear.Recent studies have proposed important roles of Protein arginine methyltransferase 1(Prmt1)in muscle stem cell function and muscle maintenance.In the current study,we set out to determine the role of Prmt1 in neuromuscular function by generating mice with motor neuron-specific ablation of Prmt1(mnKO)using Hb9-Cre.mnKO exhibited age-related motor neuron degeneration and neuromuscular dysfunction leading to premature muscle loss and lethality.Prmt1 deficiency also impaired motor function recovery and muscle reinnervation after sciatic nerve injury.The transcriptome analysis of aged mnKO lumbar spinal cords revealed alterations in genes related to inflammation,cell death,oxidative stress,and mitochondria.Consistently,mnKO lumbar spinal cords of sciatic nerve injury model or aged mice exhibited elevated cellular stress response in motor neurons.Furthermore,Prmt1 inhibition in motor neurons elicited mitochondrial dysfunction.Our findings demonstrate that Prmt1 ablation in motor neurons causes agerelated motor neuron degeneration attributing to muscle loss.Thus,Prmt1 is a potential target for the prevention or intervention of sarcopenia and neuromuscular dysfunction related to aging.

关键词： degeneration impaired prevention

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The journey towards physiology and pathology: Tracing the path of neuregulin 4

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Genes & Diseases 2024年第2期11卷 687-700页

作者： Min Chen Jieying Zhu Hongyang Luo Wangjing Mu Liang Guo school of Exercise and health and Shanghai Frontiers Science research.Base of Exercise and Metabolic health Shanghai University of SportShanghai 200438China

Neuregulin 4 (Nrg4),an epidermal growth factor (EGF) family member,can bind to and activate the ErbB4 receptor tyrosine kinase.Nrg4 has five different isoforms by alternative splicing and performs a wide variety of functions.Nrg4 is involved in a spectrum of physiological processes including neurobiogenesis,lipid metabolism,glucose metabolism,thermogenesis,and angiogenesis.In pathological processes,Nrg4 inhibits inflammatory factor levels and suppresses apoptosis in inflammatory diseases.In addition,Nrg4 could ameliorate obesity,insulin resistance,and cardiovascular diseases.Furthermore,Nrg4 improves non-alcoholic fatty liver disease (NAFLD) by promoting autophagy,improving lipid metabolism,and inhibiting cell death of hepatocytes.Besides,Nrg4 is closely related to the development of cancer,hyperthyroidism,and some other diseases.Therefore,elucidation of the functional role and mechanisms of Nrg4 will provide a clearer view of the therapeutic potential and possible risks of Nrg4.

关键词： Angiogenesis Cardiovascular diseases Inflammation Insulin resistance Lipid and glucose metabolism NAFLD Neurobiogenesis Obesity

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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 conditions.This 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 blot.Hypertonic pet milk,hypoxia and cold stimulation were used to establish a mouse(wild type and Nlrp3^(-/-))model of NEC.The mouse macrophage(RAW 264.7)and rat intestinal epithelial cell-6 lines were also cultured followed by various treatments.Macrophages,intestinal epithelial cell injuries,and IL-1β release were determined.Results 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 levels.Furthermore,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 mice.NLRP3,caspase-1,and IL-1β derived from macrophages or supernatant from cocultures of macrophages and intestinal epithelial cells also caused intestinal epithelial cell injuries.Conclusions Macrophage activation may be essential for NEC development.NLRP3/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

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Combined Effect of Outdoor Time and Other Modifiable Factors on Myopia Incidence Among Children and Adolescents—9 PLADs,China,2020

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China CDC weekly 2024年第9期6卷 151-156,I0001,I0002页

作者： Panliang Zhong Yunfei Liu Ning Ma Jiajia Dang Di Shi Shan Cai Ziyue Chen Yanhui Dong Peijin Hu Jun Ma Patrick W.C Lau Randall S.Stafford Yi Song Institute of Child and Adolescent health School of Public HealthPeking UniversityNational Health Commission Key Laboratory of Reproductive HealthBeijingChina Department of Sport Physical Education&HealthHong Kong Baptist UniversityKowloon TongHong Kong Special Administrative RegionChina Department of Medicine Stanford Prevention Research CenterStanford University School of MedicineStanfordCAUnited States

Summary What is already known about this topic?Myopia has been identified as a significant emerging challenge and policy priority among children and adolescents in China by the Ministry of Education and seven other departments.Limited research.has been conducted to investigate the collective impact of outdoor time and other modifiable factors on the incidence of myopia.

关键词： Incidence collective policy

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Promoting higher-valent pediatric combination vaccines in China: challenges and recommendations for action

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Infectious Diseases of Poverty 2024年第1期13卷 74-84页

作者： Jiuling Li Shu Chen dwin Asturias Shenglan Tang Fuqiang Cui Global health research.Center Duke Kunshan UniversityKunshanJiangsuChina ARC Centre of Excellence in Population Ageing research.CEPAR) Universityof New SouthWalesSydneyAustralia school of Risk and Actuarial Studies University of New South WalesSydneyAustralia Department of Pediatrics University of Colorado School of MedicineAuroraCOUSA Center for Global health Colorado School of Public HealthAuroraCOUSA Department of Epidemiology Colorado School of Public HealthAuroraCOUSA Duke Global health Institute Duke UniversityDurhamNCUSA Singhealth Duke-NUS Global health Institute Duke-NUSSingaporeSingapore Department of Laboratorial Science and Technology School of Public HealthPeking UniversityBeijingChina Vaccine research.Center School of Public HealthPeking UniversityBeijingChina

Many countries have adopted higher-valent pediatric combination vaccines to simplify vaccination schedules and minimize health expenditures and social costs.However,China is conservative in the use of pediatric combina-tion vaccines.By reviewing and synthesizing quantitative and qualitative data,in this commentary we identify gaps and challenges to combination vaccine use and make recommendations for promoting use of higher-valent pediatric combination vaccines in China.Challenges are in four dimensions:(1)legislation and regulation,(2)immunization schedule design,(3)vaccine awareness and price,and(4)research.and development capacity.To optimize the use of combination vaccines to reduce vaccine-preventable disease burden,we make recommendations that address key challenges:(1)develop policies and regulations to strengthen enforcement of the Vaccine Administration Law and remove regulatory hurdles that hinder combination vaccine research.and development,(2)establish an evi-dence-informed policy-making mechanism for combination vaccines,(3)resolve immunization schedule conflicts between monovalent and combination vaccines,and(4)implement effective interventions to increase vaccine awareness and reduce price.

关键词： Combination vaccine National immunization program Childhood immunization Vaccine-preventable disease

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Global,regional and national burdens of bipolar disorders in adolescents and young adults:a trend analysis from 1990 to 2019

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General Psychiatry 2024年第1期37卷 122-132页

作者： Yunxi Zhong Yifan Chen Xiaoying Su Meiqi Wang Qixiu Li Ziming Shao Long Sun Centre for health Management and Policy research School of Public HealthCheeloo College of MedicineShandong UniversityJinanShandongChina National health Commission of China(NHC)Key Laboratory of health Economics and Policy research Shandong UniversityJinanShandongChina nstitute of health and Elderly Care Shandong UniversityJinanShandongChina

Background Bipolar disorder is identified as a cause of severe damage to the physical,psychological and social functioning of adolescents and young adults.Aims The aim of this study is to ascertain the trends in the burden of bipolar disorder among individuals aged 10-24 years at global,regional and national levels from 1990 to 2019.Methods The data analysed in this study were from the Global Burden of Diseases 2019.The numbers,rates per 100000 population,average annual percentage changes(AAPCs)of incidence,prevalence and years lived with disability(YLDs)of bipolar disorder are reported at the global,regional and national levels among individuals aged 10-24 years.Global trends by age,sex and Social Development Index(SDI)were further analysed.Results Globally,the incidence of bipolar disorder among adolescents and young adults increased from 79.21 per 100000 population(95%uncertainty interval(Ul):58.13 to 105.15)in 1990 to 84.97 per 100000 population(95%Ul:61.73 to 113.46)in 2019,AAPC 0.24(95%confidence interval(Cl):0.22 to 0.26).In the past three decades,there has been an increase in incidence,prevalence and YLDs in both males and females.The largest increase in incidence between 1990 and 2019 was observed in those aged 20-24 years old from 51.76 per 100000 population(95%Ul:26.81 to 87.20)in 1990 to 58.37 per 100000 population(95%UI:30.39 to 98.55)in 2019;AAPC 0.42(95%Cl:0.38 to 0.47).By the SDI quintile,the largest increase in incidence was observed in the middle SDl;however,the high SDI countries had the highest incidence.Regionally,the largest increase in incidence was observed in southern Latin America.At the national level,the most pronounced increase in the incidence was in Greenland.Conclusions The global increase in incidence among adolescents and young adults between 1990 and 2019 indicates that strategies to improve their mental health still need to be emphasised.

关键词： adolescent bipolar young

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Role of mitochondrial dysfunction in kidney disease: Insights from the cGAS-STING signaling pathway

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中华医学杂志(英文版) 2024年第9期137卷 1044-1053页

作者： Li Lu Liu Fei Feng Chunyue Chen Zhenjie Zhang Nan Mao Jianhua Department of Nephrology Children’s Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China Department of Pediatric Intensive Care Unit Children’s Hospital Zhejiang University School of Medicine National Clinical Research Center for Child Health Hangzhou Zhejiang China

Over the past decade, mitochondrial dysfunction has been investigated as a key contributor to acute and chronic kidney disease. However, the precise molecular mechanisms linking mitochondrial damage to kidney disease remain elusive. The recent insights into the cyclic guanosine monophosphate-adenosine monophosphate (GMP-AMP) synthetase (cGAS)-stimulator of interferon gene (STING) signaling pathway have revealed its involvement in many renal diseases. One of these findings is that mitochondrial DNA (mtDNA) induces inflammatory responses via the cGAS-STING pathway. Herein, we provide an overview of the mechanisms underlying mtDNA release following mitochondrial damage, focusing specifically on the association between mtDNA release-activated cGAS-STING signaling and the development of kidney diseases. Furthermore, we summarize the latest findings of cGAS-STING signaling pathway in cell, with a particular emphasis on its downstream signaling related to kidney diseases. This review intends to enhance our understanding of the intricate relationship among the cGAS-STING pathway, kidney diseases, and mitochondrial dysfunction.

关键词： Mitochondrial dysfunction Mitochondrial DNA cGAS-STING pathway Kidney diseases Chronic kidney disease

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How Can Practitioners Support Citizen Volunteers in Disaster Risk Reduction? Insight from “Good and Ready” in Aotearoa New Zealand

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International Journal of Disaster Risk Science 2024年第3期15卷 374-387页

作者： Lo?c Le Dé Steve Ronoh Ei Mon Thinn Kyu Brigitte Rive school of Public health and Interdisciplinary Studies Auckland University of Technology Pacific health research.Centre Auckland University of Technology New Zealand Red Cross

Global and national policy frameworks emphasize the importance of people's participation and volunteers' role in disaster risk reduction. While research.has extensively focused on volunteers in disaster response and recovery, less attention has been paid on how organizations involved in disaster risk management can support volunteers in leading and coordinating communitybased disaster risk reduction. In 2019, the New Zealand Red Cross piloted the Good and Ready initiative in Auckland,Aotearoa New Zealand, with the objective to empower local people in resilience building with a focus on volunteers and community participation. This research.examined the positive and negative outcomes of Good and Ready and investigated volunteers' experiences in the disaster resilience initiative. It involved the codesign of a questionnaire-based survey using participatory methods with Good and Ready volunteers, the dissemination of the survey to gather volunteers' viewpoints, and a focus group discussion with participatory activities with Red Cross volunteers. The findings highlight that a key challenge lies in finding a balance between a program that provides flexibility to address contextual issues and fosters communities' ownership, versus a prescriptive and standardized approach that leaves little room for creativity and self-initiative. It pinpoints that supporting volunteers with technical training is critical but that soft skills training such as coordinating, communicating,or facilitating activities at the local level are needed. It concludes that the sustainability of Good and Ready requires understanding and meeting volunteers' motivations and expectations and that enhancing partnerships with local emergency management agencies would strengthen the program.

关键词： Community-based approach Disaster risk reduction New Zealand Participation Volunteers

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Coinfection of SARS-CoV-2 Omicron variant and other respiratory pathogens in children

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World Journal of Pediatrics 2024年第1期20卷 92-96页

作者： Wei Li Bing-Han Wang Bao-Hai Chen Yi Sun Lin Li Wen-Qing Xiang Ahmed Faisal Ali Lin-Xuan Su Hai-Yan Mao Hong-Qiang Shen Qiang Shu Department of Clinical Laboratory Children's HospitalNational Clinical Research Center for Child HealthZhejiang University School of MedicineHangzhouChina school of Public health Zhejiang University School of MedicineHangzhouChina Department of Information Center Children's HospitalZhejiang University School of MedicineHangzhouChina Zhejiang Provincial Center for Disease Control and Prevention HangzhouChina Department of Thoracic&Cardiovascular Surgery Children's HospitalNational Clinical Research Center for Child HealthZhejiang University School of MedicineHangzhouChina

Since the outbreak of coronavirus disease 2019(COVID-19),the entire world has been affected by the epidemic[1,2].On November 9,2021,a variant of the novel coronavirus B.1.1.529 was detected for the first time from case samples in South Africa.The Omicron strain spread and mutated significantly fast.This variant has the characteristics of escape immunity,which can induce relatively extreme disease and reduce the neutralization of antibodies in vaccinators,and is more likely to be reinfected[3,4].The clinical presentation of severe acute respiratory syndrome coronavirus 2(SARSCoV-2)in children has mild symptoms and a lower risk of hospitalization and death.

关键词： respiratory immunity acute

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