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原发性成年起病型肌张力障碍家族史资料的有效性

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世界核心医学期刊文摘(神经病学分册) 2005年第2期 62-62页

作者： Martino D. ,Aniello M.S. ,Masi G. ,G. Defazio,郭俊 dept. of neurol. and psychiat. Sci. University of Bari Piazza Giulio Cesare 11 1-70124 Bari Italy Dr.

Background: To our knowledge, no study has assessed thevalidity of family hist ory data provided by probandswith adultonset dystonia. Objective: To measure the sensitivity and specificity of interviewing patients with primary adult onset dystonia as a method for obtaining information on dystonia in first degree rela tives. Participants: Seventy probands with primary adult onset dystonia were as ked to identify first degree relatives who had dystonia. Available relatives we re then directly examined by a trained neurol.gist. The validity of the probands reports was tested against the neurol.gistsdiagnoses. Results: Among 300 fir st degree relatives who were examined, 26 received a diagnosis of dystonia. Onl y 7 of the 26 were identified by the probandsreports. Among the 274 relatives free of dystonia, the probands reported 5 as having dystonia. The probandsrepo rts therefore yielded a sensitivity of 27.0%and a specificity of 98.2%. Conclu sions: Because the family history method yields low sensitivity and incurs a ris k of misclassification, it is of limited use in family studies of adult onset d ystonia. The only valid means of ascertaining dystonia among relatives remains n eurological examination of at risk subjects.

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Biotinase deficiency in a child with predominantly spinal cord disease:a case report and literature review

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China Medical Abstracts (Internal Medicine) 2023年第1期 59-59页

作者：任长红 dept.neurol Beijing Children’s HospCapital Med UnivNatl Children’s Health Centre

Objective To describe the clinical features of pediatric biotinase deficiency (BTD) manifested as spinal cord *** The clinical data of a child with spinal cord lesions due to biotinase deficiency,diagnosed in Beijing children’s Hospital in 2020,were *** cases with complete clinical data retrieved on literature reported in China National Knowledge Infrastructure,

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Clinical characteristics of the Wilson disease carrier

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China Medical Abstracts(Internal Medicine) 2019年第2期36卷 113-113页

作者：周香雪 dept.neurol 1st Affili Hosp Sun Yat-sen Univ

Objective To study the clinical symptoms,coppermetabolism and imaging characteristics of Wilson disease(WD) carriers and to explore the treatment strategy ofWD carriers. Methods Forty WD carriers,40 WD patientsand 20 normal controls from the First AffiliatedHospital of Sun Yat-sen University from July 2007 to May2018 were included. The modified Young scale was usedfor neural symptom scoring,and child grading of liverfunction,mental symptoms rating scale,magnetic resonanceimaging (MRI) scan,susceptibility weighted imaging(SWI) inspection,metal metabolism tests were alsoapplied to all the included subjects. Corrected phase(CP) was measured by SWI. WD carriers were dividedinto symptomatic group and asymptomatic group. SymptomaticWD carriers were treated with penicillamine for 2weeks and zinc gluconate for 3 months,then their neurol.gicalsymptoms,liver function grade,metal metabolismindex were rechecked.

关键词： Wilson Clinical characteristics the Wilson disease carrier

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Acute necrotizing encephalopathy in a child caused by human herpesvirus-6 infection

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China Medical Abstracts(Internal Medicine) 2021年第1期38卷 61-61页

作者：唐志慧 dept.neurol Children's HospZhengzhou UnivHenan Children's HospZhengzhou Children's HospZhengzhou 450018

Objective To analyze the clinical and imaging characteristics of acute necrotic encephalopathy (ANE) in a child with human herpesvirus-6 (HHV-6) *** Retrospective analysis was performed on the clinical data and imaging features of a case of HHV-6 related ANE from children’s Hospital Affiliated to Zhengzhou University in March *** The one year and seven month-old child had acute encephalopathy.

关键词： acute encephalopathy clinical

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