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等长收缩负荷心脏MRI:一个简单、容易重复的评估静息状态下不明显心脏疾病的方法

中华医学会第十五次全国儿科学术大会

作者： DavidGoldblatt institute of child health University College London and Groat Ormond Street Hospital for Children Director WHO Pneumococcal Reference Laboratory

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国际医学放射学杂志 2016年第3期 332-332页

作者： K.H.Mortensen A.Jones J.A.Steeden A.M.Taylor V.Muthurangu 罗松 ucl Centre for Cardiovascular MR UCL Institute of Cardiovascular ScienceLevel 6 Old Nurses HomeCardiorespiratory UnitGreat Ormond Street Hospital for Children

摘要引言等长收缩运动可以显示静息时并不明显的心血管疾病,已证实心血管MRI(CMR)可用于对其进行全面评估。本研究设计了一个简单的等长收缩运动诱发血流动力学反应,并应用CMR方法对其评价。方法肱二头肌等长收缩运动技术被设计用于CMR... 详细信息

摘要引言等长收缩运动可以显示静息时并不明显的心血管疾病,已证实心血管MRI(CMR)可用于对其进行全面评估。本研究设计了一个简单的等长收缩运动诱发血流动力学反应,并应用CMR方法对其评价。方法肱二头肌等长收缩运动技术被设计用于CMR,75例健康志愿者分别在静息状态、肱二头肌锻炼3 min后、恢复5 min后测量:(1)血压,

关键词：等长收缩运动 CMR MRI 静息状态

儿童惊厥性癫痫持续状态的发病率、病因及短期临床结局:基于人群的前瞻性研究

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世界核心医学期刊文摘（儿科学分册） 2006年第12期2卷 2-3页

作者： Chin R.F. Neville B.G. Peckham C. 张振 Neurosciences Unit Institute of Child HealthUniversity College Londonand Great Ormond St.LondonUnited Kingdom Dr.

Background:Convulsive status epilepticus is the mostcommon childhood medical neurological emergency,and is associated with significant morbidity and mortality. Mostdata for this disorder are from mainly adult populations and might not be relevant to childhood. Thus we undertook the North London Status Epilepticus in childhood Surveillance Study (NLSTEPSS):a prospective,population-based study of convulsive status epilepticus in childhood,to obtain a uniquely paediatric perspective.Methods:Clinical and demographic data for episodes of childhood convulsive status epilepticus that took place in north London were obtained through a clinical network that covered the target population. We obtained these data from anonymised copies of a standardised admission proforma; accident and emergency,nursing,ambulance,and intensive-care unit notes; and interviews with parents,medical,nursing,and paramedic staff. We investigated ascertainment using capture-recapture modelling.Findings:Of 226 children enrolled,176 had a first ever episode of convulsive status epilepticus. We estimated that ascertainment was between 62%and 84%.The ascertainment-adjusted incidence was between 17 and 23 episodes per 100 000 per year. 98 (56%,95%CI 48-63) children were neurologically healthy before their first ever episode and 56 (57%,47-66) of those children had a prolonged febrile seizure. 11 (12%,6-18) of children with first ever febrile convulsive status epilepticus had acute bacterial meningitis. Conservative estimation of 1-year recurrence of convulsive status epilepticus was 16%(10-24%). Case fatality was 3%(2-7%). Interpretation:Convulsive status epilepticus in childhood is more common,has a different range of causes,and a lower risk of death than that in adults. These paediatric data will help inform management of convulsive status epilepticus and appropriate allocation of resources to reduce the effects of this disorder in childhood.

关键词：临床结局护理记录统计学资料内科急症入院记录患儿父母临床医疗热性癫痫发作儿童神经年复

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视觉诱发电位在评价眶周血管瘤中的价值

世界核心医学期刊文摘(眼科学分册) 2006年第3期 11-12页

作者： Ioannidis A.S Liasis A Syed S. K.K. Nischal 桑延智 Department of Ophthalmology great ormond street Hospital for children great ormond street London WC1N3JH United Kingdom

PURPOSE: To present a case of a child with an extensive facial hemangioma in whom the suspicion of intracranial involvement was raised by visual evoked potential (VEP) evaluation. DESIGN: Observational case report. METHODS: VEP analysis was performed using flash and pattern stimuli to determine whether treatment intervention other than occlusion therapy was needed. RESULTS: VEP analysis indicate d a marked transoccipital asymmetry in the flash and pattern VEP suggestive of r ight hemispheric dysfunction. Neuroimaging showed intracranial extension of the hemangioma. CONCLUSION: The VEP evaluation is a noninvasive technique performed in the awake child. This case highlights the usefulness of VEP analysis in the m anagement of extensive periocular capillary hemangiomas and its use as a modalit y to identify potential intracranial involvement. Large plaquelike facial capill ary hemangiomas may have possible underlying dural involvement suggestive of PHA CES syndrome.

关键词：血管瘤血管肿瘤视觉诱发电位

Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation

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Journal of Genetics and Genomics 2020年第10期47卷 618-626页

作者： Xiulan Su Yufei Feng Sofia A.Rahman Shuilong Wu Guoan Li Franz Rüschendorf Lei Zhao Hongwei Cui Junqing Liang Liang Fang Hao Hu Sebastian Froehler Yong Yu Giannino Patone Oliver Hummel Qinghua Chen Klemens Raile Friedrich C.Luft Sylvia Bahring Khalid Hussain Wei Chen Jingjing Zhang Maolian Gong Clinical Medicine Research Center Affiliated Hospital of Inner Mongolia Medical UniversityHuhhot010050China Affiliated Hospital of Guangdong Medical University&Key Laboratory of Zebrafish Model for Development and Disease of Guangdong Medical University Zhanjiang524001China Marine Medical Research institute of Guangdong Zhanjiang Zhanjiang524023China Genomic Medicine Programme UCL Institute of Child Health and Great Ormond Street Hospital for Children30 Guilford StreetLondonWC1N 1EHUK Max-Delbrueck-Center for Molecular Medicine(MDC) Robert-Roessle-Str.10Berlin13125Germany Department of Radiology Affiliated Hospital of Inner Mongolia Medical UniversityHuhhot010050China Affiliated People Hospital of Inner Mongolia Medical University Huhhot010050China Department of Biology Southern University of Science and TechnologyShenzhen518055China Guangzhou Women and children's Medical Center Guangzhou510623China Department of Radiology Beijing Tongren HospitalCapital Medical UniversityBeijing100730China Experimental and Clinical Research Center(ECRC) A Joint Cooperation Between the Charite Medical Faculty and the Max-Delbrueck-Center for Molecular Medicine in the Helmholtz Association(MDC)Lindenberger Weg.80Berlin13125Germany Department of Paediatric Medicine Division of Endocrinology Sidra Medical&Research CenterOPCDohaC6-337Qatar Medi-X institute SUSTec Academy for Advanced Interdisciplinary StudiesSouthern University of Science and TechnologyShenzhen518055China

Congenital hearing loss is a common disorder worldwide.Heterogeneous gene variation accounts for approximately 20-25%of such patients.We investigated a five-generation Chinese family with autosomaldominant nonsyndromic sensorineural hearing loss(SNHL).No wave was detected in the pure-tone audiometry,and the auditory brainstem response was absent in all patients.Computed tomography of the patients,as well as of two sporadic SNHL cases,showed bilateral inner ear anomaly,cochlear maldevelopment,absence of the osseous spiral lamina,and an enlarged vestibular aqueduct.Such findings were absent in nonaffected persons.We used linkage analysis and exome sequencing and uncovered a heterozygous missense mutation in the PI4 KB gene(p.Gln121 Arg)encoding phosphatidylinositol 4-kinaseβ(PI4 KB)from the patients in this family.In addition,3 missense PI4 KB(p.Val434 Gly,p.Glu667 Lys,and p.Met739 Arg)mutations were identified in five patients with nonsyndromic SNHL from 57 sporadic cases.No such mutations were present within 600 Chinese controls,the 1000 genome project,gnom AD,or similar databases.Depleting pi4 kb m RNA expression in zebrafish caused inner ear abnormalities and audiosensory impairment,mimicking the patient phenotypes.Moreover,overexpression of 4 human missense PI4 KB mutant m RNAs in zebrafish embryos resulted in impaired hearing function,suggesting dominant-negative effects.Taken together,our results reveal that PI4 KB mutations can cause SNHL and inner ear malformation.PI4 KB should be included in neonatal deafness screening.

关键词： Congenital sensorineural hearing loss Inner ear malformation Phosphatidylinositol 4-kinaseβ Mutations Zebrafish

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Innovation for rare diseases and bioethical concerns: A thin thread between medical progress and suffering

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World Journal of Clinical Pediatrics 2018年第3期7卷 75-82页

作者： Alberto Tommasini ANDrea Magnolato Irene Bruno Department of Pediatrics Institute of Maternal and Child Health IRCCS Burlo Garofolo

@Alberto Tommasini@Andrea Magnolato@Irene

关键词： X-severe combined immunodeficiency Primary immunodeficiency Beta thalassemia Spinal muscular atrophy Bioethics History of medicine Precision medicine Genetics

Molecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia

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World Journal of Diabetes 2014年第5期5卷 666-677页

作者： Suresh Chandran Fabian Yap Khalid Hussain Department of Neonatology KK Women’s and Children’s Hospital Singapore 229899 Singapore Yong Loo Lin School of Medicine National University of Singapore Singapore 117598 Singapore Duke-NUS Graduate Medical School Singapore 169857 Singapore Lee Kong Chian School of Medicine Nanyang Technological University Singapore 308232 Singapore Department of Paediatric Endocrinology KK Wom-en’s and Children’s Hospital Singapore 229899 Singapore Departments of Paediatric Endocrinology Great Ormond Street Hospital for Children NHS Foundation Trust London WC1N 3JH United Kingdom Developmental Endocrinology Research Group Molecular Genetics Unit Institute of Child Health University College London London WC1N 1EH United Kingdom

The interplay between glucose metabolism and that of the two other primary nutrient classes, amino acids and fatty acids is critical for regulated insulin secretion. Mitochondrial metabolism of glucose, amino acid and fatty acids generates metabolic coupling factors(such as ATP, NADPH, glutamate, long chain acyl-CoA and diacylglycerol) which trigger insulin secretion. The observation of protein induced hypoglycaemia in patients with mutations in GLUD1 gene, encoding the enzyme glutamate dehydrogenase(GDH) and HADH gene, encoding for the enzyme short-chain 3-hydroxyacyl-CoA dehydrogenase has provided new mechanistic insights into the regulation of insulin secretion by amino acid and fatty acid metabolism. Metabolic signals arising from amino acid and fatty acid metabolism converge on the enzyme GDH which integrates both signals from both pathways and controls insulin secretion. Hence GDH seems to play a pivotal role in regulating both amino acid and fatty acid metabolism.

关键词： Hyperinsulinaemic hypoglycaemia KATP channel Glutamate dehydrogenase Hyperinsulinism/Hyperammonaemia syndrome Short-chain-3-hydroxyacyl-CoA dehydrogenase Glutamine

Promoting the application of pediatric radiomics via an integrated medical engineering approach

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Cancer Innovation 2023年第4期2卷 302-311页

作者： Haige Zheng Fang Wang Yang Li Zhicheng Li Xiaochun Zhang Xuntao Yin Department of Radiology Guangzhou Women and Children's Medical CenterGuangdong Provincial Clinical Research Center for Child HealthGuangzhouChina Lianying Intelligent Medical Technology(Chengdu)Co. Ltd.ChengduChina institute of Biomedical and health Engineering Shenzhen Institute of Advanced TechnologyChinese Academy of SciencesShenzhenChina

Radiomics is widely used in adult tumors but has been rarely applied to the field of pediatrics.Promoting the application of radiomics in pediatric diseases,especially in the early diagnosis and stratified treatment of tumors,is of great value to the realization of the WHO 2030“Global Initiative for childhood Cancer.”This paper discusses the general characteristics of radiomics,the particularity of its application to pediatric diseases,and the current status and prospects of pediatric radiomics.Radiomics is a data-driven science,and the combination of medicine and engineering plays a decisive role in improving data quality,data diversity,and sample size.Compared with adult radiomics,pediatric radiomics is significantly different in data type,disease spectrum,disease staging,and progression.Some progress has been made in the identification,classification,stratifica-tion,survival prediction,and prognosis of tumor diseases.In the future,big data applications from multiple centers and cross-talent training should be strengthened to improve the benefits for clinical workers and children.

关键词： radiomics pediatrics oncology survivalprediction

Global Pediatric Pulmonology Alliance(GPPA)proposal for COVID-19 vaccination in children

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World Journal of Pediatrics 2021年第5期17卷 458-461页

作者： Lance E.Rodewald Kun-Ling Shen Yong-Hong Yang Gary Wing-Kin Wong Leyla Namazova-Baranova Lanny J.Rosenwasser Adel S.Alharbi Anne B.Chang Jim Buttery Basil Elnazir Ruth A.Etzel Anne Goh Hilary Hoey Rosemary Home Eitan Kerem Antonella Muraro Chris O’Callaghan Kazunobu Ouchi Varinder Singh Jiu-Yao Wang Spencer Li Yu Guanon Yue-Jie Zheng Zhengde Xie Gen Lu Yi Jiang Xing-Wang Li Rong-Meng Jiang Xiao-Chuan Wang Ji-Kui Deng Xiao-Xia Lu Bao-Ping Xu Zhuang Wei Lu-Zhao Feng Zheng-Yan Zhao the Global Pediatric Pulmonology Alliance(GPPA)Counci Global Pediatric Pulmonology Alliance(GPPA)Expert Panel on Infectious Diseases and COVID-19 National Immunization Program Chinese Center for Disease Control and Prevention.BeijingChina China National Clinical Research Center of Respiratory Diseases Department of RespiratoryBeijing Children's hospital.Capital Medical UniversityNational Center for Children's HealthBeijingChina Beijing children's Hospital Capital Medical UniversityNational Center for Children's HealthBeijingChina Chinese University of Hong Kong.Hong Kong SAR China Pediatrics and child health Research institute Central Clinical HospitalRussian Academy of SciencesMoscowRussian Federation University of Missouri-Kansas City School of Medicine Kansas CityMOUSA Prince Sultan Military Medical City(PSMMC) Ministry of DefenseRiyadhSaudi Arabia Queensland children's Hospital.Brisbane Australia and Menzies School of Health ResearchDarwinAustralia Monash children's Hospital Monash UniversityMelbourneAustralia children's health Ireland and Trinity College Dublin DublinIreland George Washington University WashingtonDCUSA KK Women’s and children’s Hospital SingaporeSingapore Department of Pediatrics University of Dublin Trinity CollegeDublinIreland Monash University MelbourneAustralia Department of Pediatrics Hadassah Hebrew University Medical CenterJerusalem.Israel Food Allergy Referral Centre Veneto Region Padua University Hospital PaduaItaly UCL Great Ormond Street Institute of Child Health Great Ormond Street Hospital(GOSH)BRCUniversity College LondonLondonUK Department of Pediatrics.Kawasaki Medical School Kurashiki-cityJapan Lady Hardinge Medical College and Assoc Kalawati Saran children's Hospital Bangla Sahib MargNew DelhiIndia College of Medicine National Cheng Kung UniversityTainan CityTaiwanChina VITUP International Hospital DalianLiaoningChina China Medicine Education Association Pediatric Committee BeijingChina Department of Respiratory Disease Shenzhen Children's Hospital.ShenzhenChina Research Unit of Critical Infection in children Chinese Academy of Medical Sciences2019RU016National Clinical Rese

Coronavirus disease 2019(COVID-19)remains a global epidemic.As of August 18,2021,the number of reported cases has exceeded 207 million globally,with more than 4.3 million deaths.COVID-19 has brought devastating losses to human society.The overall crude mortality rate is 1-3%.Although pediatric deaths from COVID-19 are rare,they do occur,as over 9,000 children have died from COVID-19 globally to date[1].With the gradual and broad application of COVID-19 vaccines around the world,the rising proportion of cases among children and unvaccinated young adults demands attention.According to World health Organization surveillance data.

关键词： mortality globally Alliance

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长期持续摩擦眼球的儿童发生单眼圆锥角膜

世界核心医学期刊文摘（眼科学分册） 2005年第7期1卷 16-16页

作者： Ioannidis A.S. Speedwell L. Nischal K.K. 王永强 Department of Ophthalmology Great Ormond Street Hospital Great Ormond Street London WC1N3JH United Kingdom

Purpose: To report a case of unilateral keratoconus in a 7- yearold female, secondary to chronic persistent eye- rubbing in the absence of any systemic condition. Design: Observational case report. Methods: In the case of this child, no organic cause was found to explain the onset of keratoconus other than persistent eye- rubbing in the affected eye. Results: Nocturnal eye padding was instigated and the condition stabilized. She was reviewed over a 2- year period of follow- up. Conclusions: Eye- rubbing has been implicated in the pathogenesis of keratoconus. Eyerubbing is also often a feature of a number of conditions linked to keratoconus such as Down syndrome, atopic keratoconjunc- tivitis, mental retardation, and Lebers’ congenital amaurosis. There are a number of reports linking eye- rubbing and keratoconus in children, typically in relation to these conditions. However, in this case the keratoconus was secondary to chronic and persistent eye- rubbing in a healthy child.

关键词：圆锥角膜角结膜炎全身性疾病长期持续性眼垫智力发育迟缓观察性特异性

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