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

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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纵谈全球儿童健康状况(英文)

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北京大学学报（医学版） 2013年第2期45卷 165-173页

作者： Chok-wan CHAN International Pediatric Association GenevaSwitzerland hong kong Paediatric Foundation Hong Kong Special Administrative RegionPeople's Republic of China hong kong society of child neurology and developmental paediatrics Hong Kong Special Administrative Region

Modern definition of child health evolves over the past six decades from ＂a state of freedom from diseases＂ to ＂a state of physical, mental and social wellbeing＂, further to the now ＂enhancement of attainment of one＇s poten-tial in life＂. This illustrates the concept of health consequent to the good control of infectious and genetic diseases, effective medical care of pregnancy and child delivery, excellent paediatric care in decreasing birth asphyxia and complication of prematurity as well as improving environmental health which we have just started to promote. We are now at a better stage of child survival and can afford to focus on the preventive arena of child health and on the quality of life. The child here includes the age from 0 - 18 years （ representing newborn, childhood and adolescent groups） and health covers the medical, social and educational sectors at home, school and community. It thus fol- lows that the professional team taking care of child health should be transdisciplinary and intersectoral comprising of doctors, nurses, midwives, allied health professionals, teachers, social workers, parents and others. Modem child healthcare thus stresses on the intersectoral collaboration and transdisciplinary cooperation of all professionals working together towards the optimum management of the continuum of care, meaning from parents to newborn, then to babies, children, adolescents （both boys and girls） who then become good parents accordingly. This cycle requires healthy components and therefore close cooperation of the professionals together.

关键词：世界卫生儿童保健服务儿科学千年发展目标

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Randomized control trial of using tongue acupuncture in autism spectrum disorder

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Journal of Traditional Chinese Medical Sciences 2014年第1期1卷 62-72页

作者： Virginia Chun-Nei Wong Jie-Guang Sun David Wai-Chow Yeung Division of Paediatric neurology/developmental Behavioural paediatrics/Neurohabilitation Department of Pediatrics&Adolescent MedicineThe University of Hong KongHong KongChina hong kong International Tongue Acupuncture Research Clinic Hong KongChina Department of Nuclear Medicine&Positron Emission Tomography Hong Kong Sanatonum&HospitalHong KongChina Department of Diagnostic Radiology Queen Mary HospitalHong KongChina

Objective:The therapeutic approach of traditional chinese Medicine(TCM)in autism spectrum disorder(ASD)is a functional *** study the efficacy,safety and functional brain change from the use of tongue acupuncture(TAC)on ASD ***:21 autistic boys(3e16 years old)were randomly assigned to TAC group(TAC:n Z 12;receiving daily TAC for 8 weeks)or control(C:n Z 9;no acupuncture).Primary outcome measures included Autism Treatment Evaluation Checklist(ATEC),Reynell Language developmental Scale,Symbolic Play Test(SPT),Functional Independence Measure for children(WeeFIM),Clinical Global Impression(CGI)Scale and Cerebral FDG Metabolism by ***:There were significant improvement in speech domain of ATEC(p Z 0.030),Self-care domain of WeeFIM(p Z 0.021),cognition domain of WeeFIM(p Z 0.001)and Total score domain of WeeFIM(p Z 0.001)in TAC group compared to the C *** were significant difference in positive clinical response between C and TAC group in language(p Z 0.0211),functional(pZ0.0011),parental Impression criteria(pZ0.0003)and overall cerebral glucose metabolism(p Z 0.0451)using ROC *** significant association of PET Glucose Metabolism with Clinical response was *** of the children developed any ***:A short course of TAC can improve specific functions in children with autism spectrum disorder,especially speech and cognition *** statistical significant association of PET Glucose Metabolism with Clinical *** scale with more sample size trial should be done for further investigation.

关键词： Autism spectrum disorder tongue acupuncture randomized control trial PET scan child

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Sensitizing a Gifted child with Autism Spectrum Disorder towards Social Cognition: From Assessment to Treatment

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World Journal of Neuroscience 2016年第2期6卷 171-180页

作者： Sergio Melogno Barbara Trimarco Maria Antonietta Pinto Gabriel Levi Department of paediatrics Child Neurology and Psychiatry “Sapienza” University of Rome Roma Italy Department of Social and developmental Psychology “Sapienza” University of Rome Roma Italy

Social cognition difficulties are well documented in children with Autism Spectrum Disorder (ASD). This clinical case study reports on social cognition assessment and treatment of a gifted child, SC (9 years), with ASD and an extraordinarily high verbal IQ (146). The assessment of theory of mind, emotion recognition and pragmatic abilities showed some weaknesses in these areas. The 4-month treatment was divided into 14 sessions and was aimed at helping SC to improve his abilities to recognize emotions and comprehend mental states. The main technique used in the intervention was “social reading” with video clips. The initial assessment was repeated after the treatment and in a follow up session. The results of this case study suggest that “social reading” can be considered as a beneficial technique for children with high-functioning ASD, and especially in giftedness conditions.

关键词： Autism Spectrum Disorder Gifted child Social Cognition Treatment Assessment

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An innovation in child health:Globally reaching out to child health professionals

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Family Medicine and Community Health 2016年第3期4卷 35-44页

作者： Russell Jones Kathryn Currow Mary Kwong Pramila Menon School of Medical and Health Sciences Edith Cowan UniversityWAAustralia Discipline of paediatrics and child Health University of SydneyThe Children’s Hospital at WestmeadWestmeadNSWAustralia hong kong College of Family Physicians AberdeenHong KongChina Department of Genetics ImmunologyBiochemistry and NutritionMaharashtra University of Health SciencesAundh Civil HospitalSanghavi PhataAundh PuneIndia

Worldwide deaths of children younger than 5 years reduced from 12.7 million in 1990 to 6.3 million in *** of this decline is attributed to an increase in the knowledge,skills,and abilities of child health *** turn this increase in knowledge,skills,and abilities has been brought about by increased child-health-focused education available to child health *** child-health-focused education must be part of the strategy to eliminate the remaining 6.3 million deaths and to achieve the United Nations Millennium Development *** article describes a child-health-focused program that was established in 1992 and operates in 20 countries:Australia,Bangladesh,Botswana,Cambodia,China,Ethiopia,hong kong,India,Kenya,Malawi,Mongolia,Myanmar,Sierra Leone,the Seychelles,the Solomon Islands,Tanzania,Tonga,Vanuatu,Vietnam,and *** Diploma in child Health/International Postgraduate Paediatric Certificate(DCH/IPPC)course provides a comprehensive overview of evidence-based current best practice in *** includes all subspecialty areas from infectious diseases and emergency medicine through to endocrinology,respiratory medicine,neurology,nutrition,and *** is developed and presented by international medical experts in response to global child health *** is provided to students via a combination of learning outcomes,webcasts,lecture notes,personalized study,tutorials,case studies,and clinical *** hundred eleven webcasts are provided,and these are updated *** article includes a brief discussion of the value and focus of medical education programs;a description of the DCH/IPPC course content,approaches to teaching and learning,course structure and the funding model;the most recent evaluation of the DCH/IPPC course;and recommendations for overcoming the challenges for implementing a multinational child-health-focused program.

关键词： child health pediatrics global health health education

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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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