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Proteomic profiling of cerebrospinal fluid in pediatric myelin oligodendrocyte glycoprotein antibody-associated disease

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World Journal of Pediatrics 2024年第3期20卷 259-271页

作者： Yi-Long Wang Meng-Ying Zhu Zhe-Feng Yuan Xiao-Yan Ren Xiao-Tong Guo Yi Hua Lu Xu Cong-Ying Zhao Li-Hua Jiang Xin Zhang Guo-Xia Sheng Pei-Fang Jiang Zheng-Yan Zhao Feng Gao department of neurology Children's HospitalZhejiang University School of MedicineHangzhou 310052China children's Hospital Zhejiang University School of MedicineHangzhou 310052China children's Hospital National Clinical Research Center for Child HealthZhejiang University School of MedicineHangzhou 310052China

Background Myelin oligodendrocyte glycoprotein(MOG)antibody-associated disease(MOGAD)is an autoimmune demy-elinating disorder of the central nervous *** Extracted proteins from 34 cerebrospinal fluid(CSF)samples[patients with MOGAD(MOG group,n=12);healthy controls(HC group,n=12);patients with MOG seronegative and metagenomics next-generation sequencing-negative inflammatory neurological diseases(IND group,n=10)]were processed and subjected to label-free quantitative *** partial least squares-discriminant analysis(PLS-DA)and orthogonal PLS-DA(O-PLS-DA)models were also performed based on proteomics *** analysis of differentially expressed proteins(DEPs)was performed using Gene Ontology,InterPro,and Kyoto Encyclopedia Genes and *** enzyme-linked immunosorbent assay was used to determine the complement levels in serum from patients with *** Four hundred and twenty-nine DEPs(149 upregulated and 280 downregulated proteins)were identified in the MOG group compared to the HC group according to the P value and fold change(FC).Using the O-PLS-DA model,872 differentially abundant proteins were identified with variable importance projection(VIP)scores>*** proteins(gamma-glutamyl hydrolase,cathepsin F,interalpha-trypsin inhibitor heavy chain 5,latent transforming growth factor beta-binding protein 4 and leukocyte-associated immunoglobulin-like receptor 1)overlapping between the top 30 DEPs with top-ranked P value and FC and top 30 proteins in PLS-DA VIP lists were *** analysis revealed that the dysregulated proteins in the MOG group were primarily involved in complement and coagulation cascades,cell adhesion,axon guidance,and glycosphingolipid biosynthesis compared to the HC *** The proteomic alterations in CSF samples from children with MOGAD identified in the current study might provide opportunities for developing novel biomarker candidates.

关键词： Acute disseminated encephalomyelitis Cerebrospinal fluid Complement cascades Myelin oligodendrocyte glycoprotein-associated disease Proteomics

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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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Chinese Medical Journal 2024年第10期137卷 1243-1245页

作者： Yijie Feng Jia Wei Mei Yao Jianing Jin Yiqin Cui Qi Long Fei Chen Yi Hong Dongming Zhou Jingjing Hu Xiao Chen Feng Gao Changzheng Yuan Shanshan Mao department of neurology Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China department of Infection Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China department of Nutrition Children’s HospitalZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China children’s Hospital Zhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China school of Public Health Zhejiang University School of MedicineHangzhouZhejiang 310012China children’s Hospital School of Public HealthZhejiang University School of MedicineNational Clinical Research Center for Child HealthHangzhouZhejiang 310052China

To the Editor: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 *** 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 difcult to detect early and intervene.

关键词： atrophy muscular children

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Deliberate self-harm among pediatric psychiatric inpatients in China:A single-center retrospective study

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World Journal of Psychiatry 2024年第3期14卷 398-408页

作者： Xing-Zhi Jiang Huan-Huan Li Zhen-Zhen Yu Chen Wang department of child and Adolescent Psychiatry Shenzhen Kangning HospitalShenzhen Mental Health CenterShenzhen Key Laboratory for Psychological Healthcare and Shenzhen Institute of Mental HealthShenzhen 518020Guangdong ProvinceChina department of Psychiatry Xiamen Xianyue HospitalXiamen 361012Fujian ProvinceChina department of Geriatric medicine Dalian Medical UniversityDalian 116000Liaoning ProvinceChina department of neurology The Second Affiliated Hospital of Xiamen Medical CollegeXiamen 361000Fujian ProvinceChina department of neurology and department of Neuroscience The First Affiliated Hospital of Xiamen UniversitySchool of MedicineXiamen UniversityXiamen 361000Fujian ProvinceChina

BACKGROUND For children and adolescents,deliberate self-harm(DSH)is becoming a mental health problem of *** several studies on the prevalence and factors of DSH in the world,there is little information on DSH among children and adolescents in *** study explores the prevalence,types,associated risk factors and tendency of DSH in pediatric psychiatric inpatients in *** To understand the situation of DSH among hospitalized children and adolescents and its related *** In this study,we retrospectively studied 1414 hospitalized children and adolescents with mental illness at Xiamen Mental Health Center from 2014 to 2019,extracted the demographic and clinical data of all patients,and analyzed clinical risk factors of *** A total of 239(16.90%)patients engaged in at least one type of DSH in our ***(n=115,48.12%)was the most common type of ***(n=171,71.55%)were more likely to engage in DSH than males(n=68,28.45%).DSH was positively associated with depressive disorders[OR=3.845(2.196-6.732);P<0.01],female[OR=2.536(1.815-3.542);P<0.01],parental marital status[OR=5.387(2.254-12.875);P<0.01]and negative family history of psychiatric illness[OR=7.767(2.952-20.433);P<0.01],but not with occupation,substance use and history of physical *** Our findings suggest that for patients with depression,females,an abnormal marriage of parents,and no history of mental illness,attention should be paid to the occurrence of DSH.

关键词： Deliberate self-harm children Adolescent Psychiatric inpatients Retrospective study

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Assistive techniques and their added value for tremor classification in multiple sclerosis

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Neural Regeneration Research 2024年第5期19卷 977-978页

作者： Nabin Koirala Abdulnasir Hossen Ioannis U.Isaias Jens Volkmann Muthuraman Muthuraman child Study Center School of MedicineYale UniversityNew HavenCTUSA department of Electrical&Computer Engineering Sultan Qaboos UniversityAl-KhodMuscatOman Neural Engineering with Signal Analytics and Artificial Intelligence Department of NeurologyUniversity Hospital of WürzburgWürzburgGermany Centro Parkinson e Parkinsonism Azienda Socio Sanitaria Territoriale G.Pini-CTO20126 MilanItaly

Tremor occurs in about half of multiple sclerosis(MS)*** tremor has a broad frequency range of 2.5-7 Hz,with a higher prevalence of postural tremor(44%)compared to intentional tremor(6%)(Alusi et al.,2001).Tremor may affect the upper and lower extremities,head,and trunk,and may even affect the vocal cords in isolated cases of palatal *** tremor is classically attributed to lesions of the brain stem,cerebellum,or cerebellar peduncles,and tremor intensity has been shown to correlate with the number of lesions or their functional ***,recent work has demonstrated that inflammatory damage to the cerebello-thalamic and cortico-thalamic pathways might also play an important role in causing tremor,as it co-occurs with other signs and symptoms of MS such as dysarthria,dysmetria,dysdiadochokinesia,and dystonia(Alusi et al.,2001).

关键词： tremor sclerosis

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*** model of riboflavin transporter deficiency(RTD)disorder reveals deficits in synaptic transmission and movement

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Genes & Diseases 2024年第4期11卷 120-123页

作者： Ramesh K.Narayanan Gonzalo Perez-siles Kamila A.Marzec Alexandra Boyling Brent Neumann Manoj P.Menezes Marina L.Kennerson Northcott Neuroscience Laboratory ANZAC Research Institute-Sydney Local Health DistrictSydneyNSW 2139Australia Sydney Medical school University of SydneySydneyNSw 2050Australia ANZAC Research Institute-Sydney Local Health District SydneyNSW 2139Australia Neuroscience Program Monash Biomedicine Discovery Institute and Department of Anatomy and Developmental BiologyMonash UniversityMelbourneVictoria 3800Australia TY Nelson department of neurology and Neurosurgery and Kids Neuroscience Children's Hospital at WestmeadWestmeadSydneyNSW2145Australia Paediatrics and child Health The University of SydneySydneySydneyNSW 2145Australia Molecular medicine Laboratory Concord General Repatriation HospitalSydneyNSW 2139Australia

Riboflavin transporter deficiency(RTD),previously known as Brown-Vialetto-Van Laere syndrome,is a childhoodonset neurodegenerative disorder characterized by sensory and motor neuron degeneration causing ataxia,muscle weakness,optic atrophy,and respiratory *** in SLC52A2 and SLC52A3,solute carrier family members that encode riboflavin(RF)transporters RFVT2 and RFVT3,are known to cause RTD types 2 and 3,respectively.

关键词： RTD degeneration TD

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Psychiatric comorbidity has a negative impact on quality of life in epileptic adolescents

Psychiatric comorbidity has a negative impact on quality of ...

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第十九届世界儿童及青少年精神卫生与相关学科学术会议

作者： Erdem Beyoglu Yesim Taneli Ozlem Ozdemir Mehmet S Okan Suna Taneli uludag university school of medicine department of child and Adolescent Psychiatry bursa Turkey uludag university school of medicine department of child neurology bursa Turkey

＜正＞Background Study aim was to investigate impact of psychiatric comorbidity on quality of life（QoL） in epileptic adolescents. Methods Forty-two epileptic adolescents（52.1%female;mean age 15.3±1.7 years） with min.1 seizure in the past 2 years were included. Severity of epilepsy（Clinical Global Impression- Severity;CGI-S）,psychiatric comorbidity（DSM-IV psychiatric interview and Brief Symptom Inventory;BSI） and QoL（Pediatric Quality of Life Inventory - child and Parents Report;PedsQL） were assessed.

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Matrin-3 dysfunction in myopathy and motor neuron degeneration

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Neural Regeneration Research 2022年第3期17卷 575-576页

作者： Caroline Ward Udai Bhan Pandey department of Pediatrics Division of Child NeurologyChildren’s Hospital of PittsburghUniversity of Pittsburgh Medical CenterPittsburghPAUSA department of Human Genetics School of Public HealthSchool of Public HealthUniversity of Pittsburgh Center for Neuroscience Institute Children’s Hospital of PittsburghUniversity of Pittsburgh Medical CenterPittsburghPAUSA

The MATR3 protein was first identified comprising the nuclear matrix,an essential part of preserving the skeletal framework of the nucleus,amongst other nuclear *** mainly of intrinsically disordered regions,the prote... 详细信息

关键词： domains. preserving disordered

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Abnormal gait and hypoglycorrhachia in a toddler with seizures

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Pediatric Investigation 2022年第1期6卷 47-49页

作者： Maria Angeli Eleni Vergadi Georgios Niotakis Maria Raissaki Emmanouil Galanakis department of Paediatrics University General Hospital of HeraklionSchool of MedicineUniversity of CreteHeraklionGreece Paediatric neurology Clinic Venizeleion General HospitalHeraklionGreece department of Radiology University General Hospital of HeraklionSchool of MedicineUniversity of CreteHeraklionGreece

Introduction:Glucose transporter type 1(Glut1)deficiency syndrome is a treatable neurometabolic disorder characterized by seizures,developmental delay,and *** to the rareness and non-specific clinical manifestations,it is usually mis-or *** presentation:We report the case of a toddler who presented with afebrile epileptic seizures and abnormal *** imaging and electroencephalogram were *** investigation of the cerebrospinal fluid revealed hypoglycorrhachia that was the clue to the diagnosis of Glut1 deficiency syndrome and the initiation of treatment with ketogenic ***:Our case highlights the importance of lumbar puncture while investigating a child with epileptic seizures and abnormal gait or developmental delay,in order not to miss treatable neurometabolic conditions,such as Glut1 deficiency syndrome.

关键词： Epilepsy Glut1 deficiency Developmental delay Ataxia Hypoglycorrhachia

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A determination of the quality of life of children and adolescents with type 1 diabetes and their parents

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International Journal of Nursing Sciences 2017年第2期4卷 94-98页

作者： Nurcan Özyazicioglu Elif Ünsal Avdal Halil Saglam department of Pediatric Nursing Faculty of Health SciencesUludag UniversityBursaTurkey department of Internal medicine Nursing Faculty of Health ScienceKatipÇelebi UniversityIzmirTurkey department of Pediatrics Pediatric Endocrinology DivisionFaculty of MedicineUludag UniversityBursaTurkey

Objective: Type 1 diabetes is a chronic illness which can have a negative effect on the health care and development of children and can put their lives in danger. This descriptive study aimed to determine the quality of life and the factors affecting it of children and adolescents with type 1 diabetes using the Pediatric Quality of Life Inventory (PedsQL).Methods: The study was conducted in the child Endocrinology Unit of a university Hospital in bursa, Turkey. Totally 64 children eight-12 years and 85 adolescents aged 13-18 with type 1 diabetes and their parents were recruited. HbA1c measurements were obtained from the records of the endocrinology clinicare, which were made once every three months, and the average of the last three measurements was taken in the study. The PedsQL was used to measure quality of life of the children and adolescents. The data was analyzed using SPSS version 20.0 and Pchildren and parents were analyzed using means and percentiles. Pearson's correlation analysis was used to assess the relationship between two averages. Results: Of the sub-groups on the scale, affective and school function scores were somewhat low, and social function scores were high. The quality of life scores of the children and adolescents were found to correlate with those of their parents. A negative correlation was found between HbA1c levels and adolescent quality of life, a positive correlation was found between the child's age and the quality of life of the child and parents, and a negative correlation was found between the number of children in the family and the quality of life of the child and parents. Conclusions: An evaluation of the quality of life after a diagnosis of diabetes can be used to assess the problems which may be faced by children and adolescents and to combat these problems.

关键词： Adolescent child Diabetes mellitus Parents Pediatric quality of life inventory Quality of life

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Estimated prevalence and trends in smoking among adolescents in South Korea,2005-2021:a nationwide serial study

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World Journal of Pediatrics 2023年第4期19卷 366-377页

作者： Hyoin Shin Sangil Park Hyunju Yon Chae Yeon Ban Stephen Turner Seong Ho Cho Youn Ho Shin Jung U.Shin Ai Koyanagi Louis Jacob Lee Smith Chanyang Min Young Joo Lee So Young Kim Jinseok Lee Rosie Kwon Min Ji Koo Guillaume Fond Laurent Boyer Jong Woo Hahn Namwoo Kim Sang Youl Rhee Jae Il Shin Ho Geol Woo Hyeowon Park Hyeon Jin Kim Yoonsung Lee Man S.Kim Eléa Lefkir Vlasta Hadalin Jungwoo Choi Seung Won Lee Dong Keon Yon Sunyoung Kim department of medicine Kyung Hee University College of MedicineSeoulSouth Korea department of neurology Kyung Hee University College of MedicineSeoulSouth Korea Maternity and child Health Division NHS Grampian AberdeenAberdeenUK Division of Allergy-Immunology University of South Florida Morsani College of MedicineTampaFLUSA department of Pediatrics CHA Gangnam Medical CenterCHA University School of MedicineSeoulSouth Korea department of Dermatology CHA Bundang Medical CenterCHA University School of MedicineSeongnamSouth Korea Research and Development Unit Parc Sanitari Sant Joan de DeuCIBERSAMISCIIIBarcelonaSpain Catalan Institution for Research and Advanced Studies(ICREA) Pg.Lluis CompanysBarcelonaSpain Faculty of medicine University of Versailles Saint-Quentin-en-YvelinesMontigny-Le-BretonneuxFrance Centre for Health Performance and WellbeingAnglia Ruskin UniversityCambridgeUK Center for Digital Health Medical Science Research InstituteKyung Hee University Medical CenterKyung Hee University College of Medicine23 Kyungheedae-RoDongdaemun-GuSeoul02447South Korea department of Obstetrics and Gynecology Kyung Hee University College of MedicineSeoulSouth Korea department of Otorhinolaryngology-Head and Neck Surgery CHA Bundang Medical CenterCHA University School of MedicineSeongnamSouth Korea department of Biomedical Engineering Kyung Hee UniversityYonginSouth Korea department of Biomedical Engineering University of MichiganAnn ArborMIUSA department of Human Biology University of TorontoTorontoONCanada AP-HM Aix-Marseille Univ.CEReSS—Health Service Research and Quality of Life CenterMarseilleFrance FondaMental Foundation CreteilFrance department of Pediatrics Seoul National University College of MedicineSeoulSouth Korea department of Neuropsychiatry Seoul National University College of MedicineSeoulSouth Korea department of Endocrinology and Metabolism Kyung Hee University School of MedicineSeoulSouth Korea department of Pediatrics Yonsei University College of

Background Although smoking is classified as a risk factor for severe COVID-19 outcomes,there is a scarcity of studies on prevalence of smoking during the COVID-19 ***,this study aims to analyze the trends of prevalence of smoking in adolescents over the COVID-19 pandemic *** The present study used data from middle to high school adolescents between 2005 and 2021 who participated in the Korea Youth Risk Behavior Web-based Survey(KYRBS).We evaluated the smoking prevalence(ever or daily)by year groups and estimated the slope in smoking prevalence before and during the *** A total of 1,137,823 adolescents participated in the study[mean age,15.04 years[95%confidence interval(CI)15.03-15.06];and male,52.4%(95%CI 51.7-53.1)].The prevalence of ever smokers was 27.7%(95%CI 27.3-28.1)between 2005 and 2008 but decreased to 9.8%(95%CI 9.3-10.3)in 2021.A consistent trend was found in daily smokers,as the estimates decreased from 5.4%(95%CI 5.2-5.6)between 2005 and 2008 to 2.3%(95%CI 2.1-2.5)in ***,the downward slope in the overall prevalence of ever smokers and daily smokers became less pronounced in the COVID-19 pandemic period than in the pre-pandemic *** the subgroup with substance use,the decreasing slope in daily smokers was significantly more pronounced during the pandemic than during the pre-pandemic *** The proportion of ever smokers and daily smokers showed a less pronounced decreasing trend during the *** findings of our study provide an overall understanding of the pandemic's impact on smoking prevalence in adolescents.

关键词： Adolescent COVID-19 Daily smokers Ever smokers Pandemic Smoking

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