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find Author "殷小静" 5 results
  • 线粒体脑肌病伴高乳酸血症和卒中样发作综合征临床特点及脑电图分析

    Release date:2019-11-14 10:46 Export PDF Favorites Scan
  • 神经元移行障碍发病机制研究进展

    胚胎发育时期因各种因素引起的神经元移行障碍,常导致大脑皮质发育畸形(Malformation of cortical development,MCD),也是引起患儿发育迟缓和癫痫的常见原因。快速发展的分子生物学、影像学和基因遗传学丰富了大脑皮质发育的相关知识,畸形的报道不仅在数量和种类上有所增长,同时相关研究已经确定了几个基因,可能破坏神经细胞增殖、移行以及晚期皮层组织形成的每一个重要阶段。不同的MCD在临床表现上也有很大的表型异质性,现就MCD的发生机制、易感基因进行阐述,为MCD后期研究提供参考依据。

    Release date:2017-09-26 05:09 Export PDF Favorites Scan
  • Analysis of genotypes and clinical phenotypes in two children with convulsions as the first symptom of hypoglycemia

    ObjectiveTo recognize the convulsion caused by hypoglycemia, and to analyze its genotype and clinical phenotype, so as to deepen the understanding of hyperinsulinemia.MethodFull exon detection were performed on 2 children with hypoglycemia and convulsions, who had been treated with antiepileptic drugs for 1 year in pediatric neurology department, Henan Provincial People’s Hospital in 2012 and 2014 respectively, but with poor curative effect.ResultABCC8 gene mutations were found in a child. The mutations located in Chromosome 11, with the nucleic acid changes of c.4607C>T (exon38) and the amino acid change of p.A1536V, rs745918247. The inheritancemode of ABCC8 gene could be autosomal dominant or autosomal recessive inheritance. Both of the parents were wild type on this genelocus. The gene mutation is associated with type 1 familial hyperinsulinemic hypoglycemia/nesidioblastosis. The other child was carrying GLUD1 gene mutation, witch is located in chromosome 10, with the nucleic acid changes of c.1498G>A (exon12) and the amino acid change of p.A500T. The inheritance mode of GLUD1 gene is autosomal dominant andthe child’s parents were both wild type. This gene mutationis associated with type 6 familial hyperinsulinemic hypoglycemia/nesidioblastosis. The 2 mutations have not been reported, which are new mutations.ConclusionMutations in these 2 gene loci may be the underlying cause of hypoglycemic convulsions, and are the best explanation for the poor convulsionscontrol of antiepileptic drugs.

    Release date:2018-03-20 04:09 Export PDF Favorites Scan
  • Clinical features and literature review of 4 cases of DNA A3243G mutation-related MELAS syndrome

    ObjectiveTo investigate the clinical characteristics and genetic phenotype of mitochondrial myopathy associated with lactic acidemia and stroke-like seizure syndrome (MELAS) in DNA A3243G mutation, and to improve the clinical understanding and diagnosis.MethodsThe clinical data and imaging characteristics of 4 patients with DNA A3243G mutation-related MELAS syndrome who were diagnosed and treated in the Department of Pediatric Neurology, Henan Provincial People's Hospital from June 2017 to June 2018 were retrospectively reviewed.ResultsOf the 4 patients, 3 were caused by convulsions, 1 was caused by dizziness, and the MELAS syndrome caused by mitochondrial DNA A3243G mutation was confirmed by genetic testing. The patients were treated with anti-epilepsy drugs. The patients were followed up for at least 1 year, and 2 of 4 patients were stable, 1 patient still had seizures, and 1 patient did not improved.ConclusionsThe clinical phenotypic heterogeneity of patients with DNA A3243G mutation-related MELAS syndrome is caused by the " heterogeneity” and " threshold effect” of DNA mutation. The mutation rate of DNA A3243G is as high as 80%. In the era of promoting precision medicine, genes examination can help early diagnosis and early treatment of MELAS syndrome as well as improve the quality of life of patients and improve the prognosis.

    Release date:2020-01-09 08:49 Export PDF Favorites Scan
  • Clinical characteristics of 30 children with tuberous sclerosis

    ObjectiveTo analyze and summarize the clinical and video EEG (VEEG) characteristics of tuberous sclerosis (TSC) with epilepsy.MethodsClinical data of 30 children with TSC who met the revised diagnostic criteria of TSC in 2012 from Jan. 2016 to May 2019 in Zhengzhou Children’s Hospital were collected, including 29 children with epileptic seizures. The characteristics of skin lesions, imaging, seizures and long-term VEEG were analyzed retrospectively.ResultsThe mean age was (2.88 ± 2.64), 12 males and 18 females, 1 case of lumbar acid as the first symptom, 29 cases with epilepsy as the first symptom, the incidence of epilepsy is high, and the onset age is less than 1 year old; TSC can cause different degrees of cognitive impact; depigmentation or milk coffee spots are the most common skin changes in young children; TSC with infantile spasm has a high incidence; children younger than 10 years old may have lesions of other organs except nervous system lesions. However, the incidence of other organ lesions was relatively low. Most of TSC children with epilepsy were accompanied by abnormal EEG discharge.ConclusionThe clinical characteristics of TSC with epileptic seizures are various, and early diagnosis is of great significance.

    Release date:2020-09-04 03:06 Export PDF Favorites Scan
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