【摘要】目的了解青光眼小梁切除术后眼脉动振幅的变化。方法2008年3月2009年6月确诊的青光眼患者32例,使用瑞士(Microtechnology AG公司)动态轮廓眼压计测量小梁切除术前后眼压及眼脉动振幅(OPA)的变化,进行统计分析。结果术前、术后眼压分别为(1941±506)、(1186±352) mm Hg(Plt;005);术前、术后OPA分别为(392±176)、(204±138) mm Hg(Plt;005)。术前眼压与OPA、术后眼压与OPA均有相关性。结论青光眼小梁切除术后OPA会随眼压变化出现相应的变化,在青光眼的诊断及治疗中有一定的意义。
ObjectiveTo observe the clinical effect of Lacosamide (LCM) in the treatment of children with intractable epilepsy.Methods41 cases of refractory epilepsy patients who received LCM from March to July 2019 in department of Neurology, General Hospital of Henan Province were collected which included 21 males, 20 females, age were 4.6 ~ 15.5 years, average (7.21±3.06) years, And the efficacy of LCM was observed through blank control study.ResultsAfter LCM was added to the blank self-control group, the frequency of epileptic seizures was significantly reduced during the follow-up period of 3 months and 6 months, with statistically significant difference (P<0.05), and the mental state of the children was effectively improved, but there was no statistical significance between focal refractory epileptic seizure and comprehensive refractory epileptic seizure (P>0.05).ConclusionsLCM is a new kind of the third generation of antiepileptic drug. The addition use of LCM can effectively reduce the seizure frequency and improve mental state in children with refractory epilepsy.
ObjectiveTo analyze the clinical efficacy and safety of rapamycin in the treatment of Tuberous sclerosis complex ( TSC ) complicated with refractory epilepsy, and to provide scientific basis for the clinical treatment of this disease.MethodsRetrospective analysis was performed on 22 children with TSC complicated with refractory epilepsy admitted to Henan People's Hospital from 2017 to 2019, including 11 males and 11 females who met the inclusion criteria, with an average age of (27.91±36.92) months. They were treated with antiepileptic drugs and rapamycin at the same time, and followed up for at least 1 year.To observe the change of seizure frequency before and after treatment with rapamycin.ResultsThe mean reduction rate of seizure frequency in children with tuberous sclerosis complicated with refractory epilepsy was 52.1% 6 months after the addition of rapamycin, and 51.2% 12 months after the addition of rapamycin. The number of seizure-free days could be maintained. The difference before and after the addition of rapamycin was statistically significant (P<0.05).ConclusionThe addition of rapamycin in the treatment of TSC complicated with refractory epilepsy can reduce the frequency of seizure and increase the number of days without seizure, and the adverse reactions are mild/moderate. Rapamycin has certain safety in children with regular follow-up.
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.
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.