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Objective:To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome.Methods:The data of 3 children with febrile infection-related epilepsy syndrome admitted to the First Affiliated Hospital of Zhengzhou University from May to June 2019 were collected retrospectively, and their clinical characteristics, diagnosis, treatments and prognosis were summarized in combination with relevant literature.Results:The age of onset was 6-9 years old.The time interval from fever to first convulsion was 4-7 days, and they progressed to status epilepticus within 24 hours.The seizures were mainly multifocal seizures.Cerebrospinal fluid laboratory examination was normal.Electrocardiogram shows diffuse slow wave activity as the background, and epileptic waves dominated by the temporal area.Cranial magnetic resonance imaging showed signs of edema in 2 cases during the acute phase.All patients were resistant to multiple (4-5) anti-epileptic drugs, but high-dose anesthetic drugs can effectively terminate status epilepticus.All cases developed into refractory epilepsy, 2 cases had cognitive impairment and 1 case had movement impairment after 1 year.Conclusion:Febrile infection-related epilepsy syndrome often occurs in school-age children who have been physically healthy, which was included by fever.The seizures are explosive and refractory in febrile infection-related epilepsy syndrome, and it lacked specific laboratory indicators.High-dose anesthetics can effectively terminate status epilepticus, but it always has a poor prognosis.
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Clinical data of a child with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) diagnosed in the First Affiliated Hospital of Zhengzhou University in June 2020 were retrospectively analyzed.A female patient with 1 year and 2 months old presented with 10 months of developmental delay and 1 month of recurrent seizures.Physical examinations showed grade Ⅲ muscle strength of limbs, slightly higher muscle tone, active reflex of bilateral knee tendons, normal reflex of bilateral achilles tendons, and positive Babinski sign.Brain magnetic resonance imaging (MRI) showed bilateral cerebral hemisphere atrophy and diffuse abnormal signals.The whole exome sequencing test showed two heterozygous mutations of the DARS2 gene in the present case.There are no reports of early-onset LBSL gene mutation in Chinese population.A total of 6 related foreign literatures have been reported.All affected cases present psychomotor development disorders and other encephalopathy manifestations.Brain MRI involvement and DARS2 gene mutations are found in previous reports.Therefore, for children with developmental retardation, epilepsy, and diffuse abnormal signals in both cerebral hemispheres examined by brain MRI, genetic testing is recommended to confirm the diagnosis, guide prenatal diagnosis and genetic counseling.
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Objective:To analyze the clinical and genotype features of infants with epilepsy caused by RYR2 gene mutations, and explore the correlation between RYR2 gene mutations and epilepsy. Methods:The clinical characteristics and genetic test results of 2 infants with epilepsy caused by RYR2 gene mutations, admitted to Department of Pediatrics, First Affiliated Hospital of Zhengzhou University in December 2020 or May 2022, were retrospectively analyzed. The related literature was reviewed. Results:These 2 infants had onset at the infancy (4 and 9 months after birth), characterized by repeated unprovoked seizures; 1 patient had abnormal dynamic electrocardiogram results without malignant ventricular arrhythmia; 1 patient showed abnormal discharge in interictal electroencephalogram, which was effectively controlled after treatment with levetiracetam oral solution. Whole exon sequencing revealed heterozygous missense mutation of the RYR2 gene c.14767A>G(p.Met4923Val) in 1 child, heterozygous missense mutation of the RYR2 gene c.14014A>G(p.Met4672Val) in 1 child, and no other known epilepsy pathogenic gene mutation was found in 2 children. American Society for Medical Genetics and Genomics guidelines evaluated 2 mutations as pathogenic mutations (PS2+PM1+PM2+PP2+PP3). Conclusion:RYR2 gene is potentially a novel epilepsy gene.
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Retrospective analysis of the clinical data of a child with type 102 mental retardation caused by DDX3X gene mutation in the pediatric diagnosis of the First Affiliated Hospital of Zhengzhou University in April 2019.A 2 years and 3 months old girl with " delay for more than 1 year" , using second-generation sequencing technology for full exon detection, and the result is DDX3X gene 13 th exon c. 1463G>A hybridization mutation, this is a new mutation.There are no Chinese cases reported with DDX3X gene mutations, and there are 8 related cases were reported in foreign literature, all children have different degrees of intellectual disability.So patients with unexplained intellectual disability(especially female patients) need to be wary of the possibility of DDX3X gene mutation.
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Epilepsy is one of the most common chronic diseases of the central nervous system,many epilepsy patients need lifelong medication.Epidemiological studies have shown that 3‰-5‰ neonates born by women suffering from epilepsy.Treatment become more challenging because not only the patients themselves but also the breastfed in fants should be taken into consideration.This paper reviewed how to choose lactation antiepileptic drug.In short,choosing drugs which transport less to milk and have less side effects to infants,using the lowest effective dose and avoiding combination if possible can ensure the safety of breastfeeding.
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[Summary] In this study, PubMed, Embase, China National Knowledge Infrastructure, databases VIP Chinese Periodical Database, and Wanfang Chinese Periodical Database were systematically searched for the case-control study related β3-adrenergic receptor ( ADRB3 ) Trp64Arg gene polymorphism to overweight/obesity among children from 1962 to 2014.Twelve eligible studies with 2 222 overweight/obese children and 1 955 normal children were included according the uniform inclusion and exclusion criteria.Meta-analyses showed that Trp64Arg polymorphism was associated with significantly increased overweight/obesity risk in Arg carriers among children( OR=1.34,95%CI1.17-1.53).Afterstratificationforethnicity,highlysignificantcoorelationofTrp64Argpolymorphism to overweight/obesity in Asian children(OR=1.44, 95%CI 1.23-1.68) but not significant in Europe(OR=1.05, 95%CI 0.79-1.40).It suggested that Trp64Arg polymorphism is associated with overweight/obesity susceptibility in children.Our results support an strong association between Trp64Arg polymorphism and overweight/obesity among the Asian children investigated.
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Objective To investigate the dynamic level changes and significance of triggering receptor expressed on myeloid cells-1 (TREM-1) in the injury brain tissues of rats caused by pneumolysin (PLY).Methods Sixty-four SD rats were randomly and equally divided into PLY group and control group,0.1 mL PLY and isopyknic normal saline was given through left internal carotid artery respectively.Brain tissue gross and histological changes were observed at different time(4 h,6 h,12 h,24 h),meanwhile the expression levels of neurocyte damage marker glial fibrillary acidic protein (GFAP) and neuron-specific enolase (NSE) protein were detected by immunohistochemistry;and the expression levels of TREM-1,tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6) were detected respectively by enzyme-linked immunosorbent assay.Results The observation of brain tissue gross and histological changes indicated the existence of brain injury,and the expression levels of GFAP,NSE,TNF-α and IL-6 protein increased from 4 h after PLY were injected and augmented dynamically as time went on,compared with the control group at corresponding time points,the differences were statistically significant (all P ＜ 0.05).The level of TREM-1 in the PLY group reached a peak at the 4 h time point,but decreased somewhat at the 6 h time point,the level of TREM-1 was still higher than that in control group,the differences were statistically significant(all P ＜ 0.05).However,the level of TREM-1 in the PLY group declined obviously at 12 h and 24 h time points,compared with that in control group,there were no significant differences (all P ＞ 0.05).Conclusions The expression levels of TREM-1 up-regulated obviously in the early stage of brain damage induced by PLY,which might be involved in the pathological process of brain damage by promoting the expression of TNF-α and IL-6.
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Objective To study the abnormalities of motor evoked potentials(MEPs)obtained from obese subjects induced by magnetic stimulation at T12 to L1. Methods A total of 90 healthy subjects without any neuro-muscular system abnormalities were divided into 3 groups according to the body mass index(BMI).The control group consisted of 30 normal somatotype males(BMI<23),while the obese somatotype group(BMI>30)and weight-reduc-ing group(BMI>30)consisted of 30 obese somatotype males,respectively.The subjects in the control group and obese somatotype group maintain their usual lifestyle as before,while those in the weight-reducing group were reques-ted to lose weight by all means.MEPs were induced by using magnetic stimulation of 70%and 90%the output of the stimulator,respectively,at T12 to L1 and recorded from all the anbjcots at the time of admission to the study and one year later. Results At admission,the amplitude and conduction time of MEPs in obese somatotype group and weight-reducing group were significantly different from those in control group(P<0.05),when the magnetic stimula- tion of 70%the stimulator output was employed.but all the indexes were not difierent when 90%the stimulator uot- put were adopted(P>0.05).One year later,the amplitude and conduction time of MEPs in obese somatotype group were significantly different from those in control group and weight-reducing group(P<0.05),but all the indexes were not different within 3 groups when 90%the stimulator output was adopted(P>0.05). Conclusion Supra-maximal magnetic stimulation should be used for recording the MEPs from the obese subjects,or false positive result would be obtained.
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To investigate the role of AQP9 in brain edema, the expression of AQP9 in an infectious rat brain edema model induced by the injection of lipopolysaccharide (LPS) was examined. Immunohistochemistry and reverse transcription-polymerase chain reaction (RT-PCR) analysis demonstrated that the expressions of AQP9 mRNA and protein at all observed intervals were significantly increased in LPS-treated animals in comparison with the control animals. Time-course analysis showed that the first signs of blood-brain barrier disruption and the increase of brain water content in LPS-treated animals were evident 6 h after LPS injection, with maximum value appearing at 12 h, which coincided with the expression profiles of AQP9 mRNA and protein in LPS-treated animals. The further correlation analysis revealed strong positive correlations among the brain water content, the disruption of the blood-brain barrier and the enhanced expressions of AQP9 mRNA and protein in LPS-treated animals. These results suggested that the regulation of AQP9 expression may play important roles in water movement and in brain metabolic homeostasis associated with the pathophysiology of brain edema induced by LPS injection.