Change in intestinal flora after treatment in children with focal epilepsy / 中国当代儿科杂志

OBJECTIVES@#To study the difference in intestinal flora between children with focal epilepsy and healthy children and the change in intestinal flora after treatment in children with epilepsy.@*METHODS@#A total of 10 children with newly diagnosed focal epilepsy were recruited as the case group and were all treated with oxcarbazepine alone. Their clinical data were recorded. Fecal specimens before treatment and after 3 months of treatment were collected. Fourteen aged-matched healthy children were recruited as the control group. Total bacterial DNA was extracted from the fecal specimens for 16S rDNA sequencing and bioinformatics analysis.@*RESULTS@#After 3 months of carbamazepine treatment, the seizure frequency was reduced by >50% in the case group. At the phylum level, the abundance of Actinobacteria in the case group before treatment was significantly higher than that in the control group (P<0.05), and it was reduced after treatment (P<0.05). At the genus level, the abundances of Escherichia/Shigella, Streptococcus, Collinsella, and Megamonas in the case group before treatment were significantly higher than those in the control group (P<0.05), and the abundances of these bacteria decreased significantly after treatment (P<0.05).@*CONCLUSIONS@#There is a significant difference in intestinal flora between children with focal epilepsy and healthy children. Oxcarbazepine can significantly improve the symptoms and intestinal flora in children with epilepsy.

Mutations in aminoacyl-tRNA synthetase genes: an analysis of 10 cases / 中国当代儿科杂志

OBJECTIVE@#To study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency.@*METHODS@#A retrospective analysis was performed of the clinical and gene mutation data of 10 children who were diagnosed with ARS gene mutations, based on next-generation sequencing from January 2016 to October 2019.@*RESULTS@#The age of onset ranged from 0 to 9 years among the 10 children. Convulsion was the most common initial symptom (7 children). Clinical manifestations included ataxia and normal or mildly retarded intellectual development (with or without epilepsy; n=4) and onset of epilepsy in childhood with developmental regression later (n=2). Some children experienced disease onset in the neonatal period and had severe epileptic encephalopathy, with myoclonus, generalized tonic-clonic seizure, and convulsive seizure (n=4); 3 had severe delayed development, 2 had feeding difficulty, and 1 had hearing impairment. Mutations were found in five genes: 3 had novel mutations in the AARS2 gene (c.331G>C, c.2682+5G>A, c.2164C>T, and c.761G>A), 2 had known mutations in the DARS2 gene (c.228-16C>A and c.536G>A), 1 had novel mutations in the CARS2 gene (c.1036C>T and c.323T>G), 1 had novel mutations in the RARS2 gene (c.1210A>G and c.622C>T), and 3 had novel mutations in the AARS gene (c.1901T>A, c.229C>T, c.244C>T, c.961G>C, c.2248C>T, and Chr16:70298860-70316687del).@*CONCLUSIONS@#A high heterogeneity is observed in the clinical phenotypes of the diseases associated with the ARS deficiency. A total of 14 novel mutations in 5 genes are reported in this study, which enriches the clinical phenotypes and genotypes of the diseases associated with ARS deficiency.

Advances in the diagnosis and treatment of congenital myasthenic syndrome / 中国当代儿科杂志

Congenital myasthenic syndrome (CMS) is a group of clinical and genetic heterogeneous diseases caused by impaired neuromuscular transmission due to genetic defects. At present, it has been reported that more than 30 genes can cause CMS. All CMS subtypes have the clinical features of fatigue and muscle weakness, but age of onset, symptoms, and treatment response vary with the molecular mechanisms underlying genetic defects. Pharmacotherapy and symptomatic/supportive treatment are the main methods for the treatment of CMS, and antisense oligonucleotide technology has been proven to be beneficial for CHRNA 1-related CMS in animals. Since CMS is a group of increasingly recognized clinical and genetic heterogeneous diseases, an understanding of the latest knowledge and research advances in its clinical features, genetic research, and treatment helps to give early diagnosis and treatment as well as gain a deeper understanding of the pathogenesis of CMS, so as to make new breakthroughs in the treatment of CMS.

Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China / 中华医学杂志(英文版)

Background@#Advanced technology has become a valuable tool in etiological studies of intellectual disability/global developmental delay (ID/GDD). The present study investigated the role of genetic analysis to confirm the etiology in ID/GDD patients where the cause of the disease was uncertain in central China.@*Methods@#We evaluated 1051 ID/GDD children aged 6 months to 18 years from March 2009 to April 2017. Data concerning basic clinical manifestations were collected, and the method of etiology confirmation was recorded. Genome-wide copy number variations (CNVs) detection and high-throughput sequencing of exons in the targeted regions was performed to identify genetically-based etiologies. We compared the incidence of different methods used to confirm ID/GDD etiology among groups with differing degrees of ID/GDD using the Chi-square or Fisher exact probability test.@*Results@#We recruited 1051 children with mild (367, 34.9%), moderate (301, 28.6%), severe (310, 29.5%), and profoundly severe (73, 6.9%) ID/GDD. The main causes of ID/GDD in the children assessed were perinatal factors, such as acquired brain injury, as well as single gene imbalance and chromosomal gene mutation. We identified karyotype and/or CNVs variation in 46/96 (47.9%) of cases in severe ID/GDD patients, which was significantly higher than those with mild and moderate ID/GDD of 34/96 (35.4%) and 15/96 (15.6%), respectively. A total of 331/536 (61.8%) patients with clear etiology have undergone genetic analysis while 262/515 (50.9%) patients with unclear etiology have undergone genetic analysis (χ2 = 12.645, P < 0.001). Gene structure variation via karyotype analysis and CNV detection increased the proportion of children with confirmed etiology from 51.0% to 56.3%, and second-generation high-throughput sequencing dramatically increased this to 78.9%. Ten novel mutations were detected, recessive mutations in X-linked genes (ATPase copper transporting alpha and bromodomain and WD repeat domain containing 3) and dominant de novo heterozygous mutations in X-linked genes (cyclin-dependent kinase like 5, protocadherin 19, IQ motif and Sec7 domain 2, and methyl-CpG binding protein 2) were reported in the study.@*Conclusions@#The present study indicates that genetic analysis is an effective method to increase the proportion of confirmed etiology in ID/GDD children and is highly recommended, especially in ID/GDD children with uncertain etiology.

Diagnosis of intellectual disability/global developmental delay via genetic analysis in a central region of China / 中华医学杂志(英文版)

BACKGROUND@#Advanced technology has become a valuable tool in etiological studies of intellectual disability/global developmental delay (ID/GDD). The present study investigated the role of genetic analysis to confirm the etiology in ID/GDD patients where the cause of the disease was uncertain in central China.@*METHODS@#We evaluated 1051 ID/GDD children aged 6 months to 18 years from March 2009 to April 2017. Data concerning basic clinical manifestations were collected, and the method of etiology confirmation was recorded. Genome-wide copy number variations (CNVs) detection and high-throughput sequencing of exons in the targeted regions was performed to identify genetically-based etiologies. We compared the incidence of different methods used to confirm ID/GDD etiology among groups with differing degrees of ID/GDD using the Chi-square or Fisher exact probability test.@*RESULTS@#We recruited 1051 children with mild (367, 34.9%), moderate (301, 28.6%), severe (310, 29.5%), and profoundly severe (73, 6.9%) ID/GDD. The main causes of ID/GDD in the children assessed were perinatal factors, such as acquired brain injury, as well as single gene imbalance and chromosomal gene mutation. We identified karyotype and/or CNVs variation in 46/96 (47.9%) of cases in severe ID/GDD patients, which was significantly higher than those with mild and moderate ID/GDD of 34/96 (35.4%) and 15/96 (15.6%), respectively. A total of 331/536 (61.8%) patients with clear etiology have undergone genetic analysis while 262/515 (50.9%) patients with unclear etiology have undergone genetic analysis (χ = 12.645, P < 0.001). Gene structure variation via karyotype analysis and CNV detection increased the proportion of children with confirmed etiology from 51.0% to 56.3%, and second-generation high-throughput sequencing dramatically increased this to 78.9%. Ten novel mutations were detected, recessive mutations in X-linked genes (ATPase copper transporting alpha and bromodomain and WD repeat domain containing 3) and dominant de novo heterozygous mutations in X-linked genes (cyclin-dependent kinase like 5, protocadherin 19, IQ motif and Sec7 domain 2, and methyl-CpG binding protein 2) were reported in the study.@*CONCLUSIONS@#The present study indicates that genetic analysis is an effective method to increase the proportion of confirmed etiology in ID/GDD children and is highly recommended, especially in ID/GDD children with uncertain etiology.

Clinical features and COL4A1 genotype of a toddler with hereditary angiopathy with nephropathy, aneurysms and muscle cramps syndrome / 中国当代儿科杂志

Hereditary angiopathy with nephropathy, aneurysms and muscle cramps (HANAC) syndrome is an autosomal dominant genetic disease caused by COL4A1 gene mutation, with major clinical manifestations of white matter lesion, aneurysm, retinal artery tortuosity, polycystic kidney, microscopic hematuria and muscle cramps. This article reports the clinical features and genotype of one toddler with HANAC syndrome caused by COL4A1 gene mutation. The boy, aged 1 year and 8 months, had an insidious onset, with the clinical manifestations of pyrexia and convulsion, white matter lesions in the periventricular region and the centrum semiovale on both sides, softening lesions beside the left basal ganglia, retinal arteriosclerosis, microscopic hematuria and muscle cramps. Whole exome sequencing revealed a pathogenic de novo heterozygous mutation in the COL4A1 gene, (NM_001845) c.4150+1(IVS46)G>T, and therefore, the boy was diagnosed with HANAC syndrome. COL4A1 gene mutation detection should be performed for children with unexplained white matter lesion, stroke, hematuria, polycystic kidney, cataract and retinal artery tortuosity or families with related history.

Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review / 中国当代儿科杂志

A case of 3-hydroxyisobutyryl-CoA hydrolase deficiency was reported, and its clinical features, gene mutation characteristics, and diagnosis and treatment were analyzed with reference to related literature. The patient aged 1 year and 6 months had developmental regression and paroxysmal dystonia after pyrexia and diarrhea, and head MRI showed symmetrical lesions in the bilateral basal ganglia. No pathogenic mutation was found in the full-length detection of mitochondrial genome. Nuclear gene detection of mitochondrial-related diseases found new compound heterozygous mutations in the HIBCH gene, i.e., c.439-2A>G and c.958A>G (p.K320E), which were inherited from his father and mother, respectively. The boy was given cocktail therapy, dietary valine restriction, and symptomatic treatment. After 2 weeks of treatment, there were improvements in dystonia and motor and intellectual development.

Etiology and clinical features of epilepsia partialis continua: an analysis of six cases / 中国当代儿科杂志

OBJECTIVE@#To investigate the etiology and clinical features of epilepsia partialis continua (EPC) in children.@*METHODS@#A retrospective analysis was performed for the clinical features, diagnosis and treatment of six children with EPC, and the clinical and laboratory features and prognosis were compared between the children with different etiologies.@*RESULTS@#There were five girls and one boy, with an onset age ranging from one year and seven months to nine years. Two were diagnosed with Rasmussen encephalitis, one was diagnosed with focal cortical dysplasia, one was diagnosed with Alpers syndrome caused by POLG gene mutation, one was diagnosed with Angelman syndrome, and one was diagnosed with tuberculous meningitis. The latter two children had the predisposing factors for acute encephalopathy induced by status epilepticus and craniocerebral operation during the onset of EPC, while the other four children had natural progression of EPC. All the children had focal seizures except EPC, and symptoms included automatism, bilateral asymmetric tonic seizure, deflection, complex motor, and autonomic symptoms, with disturbance of consciousness in some children. EPC often lasted for several days or even several months. All children had abnormalities on head MRI, including local abnormal signal, cortex swelling, diffusive brain atrophy or brain atrophy at one side, local cortex thickening, and cortical necrosis. Head PET/CT scan was performed for three children and found local hypermetabolism or co-existence of hypermetabolism and hypometabolism. All the children had abnormalities on electroencephalography (EEG), with cerebral, hemispheric, or diffusive distribution of abnormal electrical activities, and during the onset of EPC, some EEG changes were recognizable and some were difficult to identify. All the children with EPC were not sensitive to antiepileptic drugs. EPC was relatively self-limiting in the child with Angelman syndrome. The child with focal cortical dysplasia underwent resection of epileptic foci and had good postoperative control, without neurological dysfunction. The child with Rasmussen encephalitis underwent functional hemispherectomy and had no attack after surgery, with neurological dysfunction. The child with Alpers syndrome had the worst prognosis.@*CONCLUSIONS@#EPC is a special type of epileptic seizures. Immune inflammation and metabolic etiologies are the main causes of EPC in children, and the selection of treatment regimens, treatment outcome, and prognosis depend on etiology.

Clinical features and genome-wide copy number variation analysis in 60 children with early-onset epileptic encephalopathies of unknown cause / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the clinical features of early-onset epileptic encephalopathies (EEEs) of unknown cause, and to identify pathogenic microdeletion/microduplication of EEEs by genome-wide analysis of copy number variations (CNVs).</p><p><b>METHODS</b>The clinical data of 60 children diagnosed with unexplained EEEs between July 2012 and April 2013 were obtained and analyzed. Specimens were collected from the selected children and their parents. Single nucleotide polymorphism array was used to detect genome-wide CNVs, and fluorescence in situ hybridization was performed to verify the results and analyze the source of the parents, further to identify suspected pathogenic CNVs of EEEs.</p><p><b>RESULTS</b>Among the 60 children with unexplained EEEs, 34 were diagnosed with West syndrome, 3 with Ohtahara syndrome, 3 with Dravet syndrome, and 20 with unclassified EEEs. In total, 77% of the patients were associated with moderate to severe mental retardation. Head imaging test implied that 35% of the patients had brain dysplasia or astrophy. Among 54 patients, 17% showed microcephalus. After treatment, 28 patients had clinical seizures under control, 16 out of control, 5 dead, and 1 lost to follow-up. Genome-wide analysis of CNVs showed that 7 pathogenic or suspected pathogenic CNVs were present in 5 patients.</p><p><b>CONCLUSIONS</b>EEEs of unknown cause are associated with high phenotypic heterogeneity and poor prognosis. Genome-wide CNVs analysis can demonstrate pathogenic or suspected pathogenic CNVs. This research expands the gene bank of EEEs and improves the understanding about possible etiology of unexplained EEEs. The results provide a reference for genetic counseling regarding reproduction in the patient's family.</p>

Reduction of gray and white matters in patients with temporal lobe epilepsy and its correlation with disease duration / 中国医学科学院学报

<p><b>OBJECTIVE</b>To measure the volumetric changes of gray and white matters in patients with temporal lobe epilepsy(TLE)using voxel-based morphometric study(VBM)and correlate the changes with clinical parameters.</p><p><b>METHODS</b>A total of 71 TLE patients were enrolled in the study,and 22 healthy subjects served as normal controls. Routine brain MRI and 3D fast spoiled gradient echo(FSPGR)T1-weighted images of all the subjects were acquired. The 3D structural images were co-registered,segmented and smoothed,and then the images were analyzed using the optimized VBM with preprocessed using Diffeomorphic Anatomical Registration using Exponentiated Lie algebra(DARTEL)algorithm. The global and local gray matter and white matter volume of each subject were calculated and compared between the TLE patients and normal controls. The potential correlations between the changes of the global and local gray and white matters in the TLE patients and the clinical parameters including the age at onset and the duration of epilepsy were explored.</p><p><b>RESULTS</b>Compared to the normal controls,the TLE patients had diffuse volumetric reduction of gray and white matters in cerebrum both ipsilateral and contralateral to the seizure focus(P<0.05). Local gray matter reduction was found extensively in bilateral cerebral lobes,especially in the temporal and frontal lobes. Local white matter reduction was found in bilateral temporal,parietal and frontal lobes,in addition to the cingulate gyrus. The global gray matter volume(Global GMV)and the global white matter volume(Global WMV)were negatively correlated to the duration of epilepsy with the most significant change occurring in the first year of epilepsy. Global WMV dropped more quickly than Global GMV during the prolonged disease course.</p><p><b>CONCLUSIONS</b>TLE patients have diffuse gray matter and white matter reduction,particularly in the early stage of epilepsy. The reduction of the white matter is more obvious than the gray matter.</p>

Spatio-temporal expression study of phosphorylated 70-kDa ribosomal S6 kinase (p70S6k) in mesial temporal lobe epilepsy / 中国医学科学杂志(英文版)

<p><b>OBJECTIVE</b>To determine the spatio-temporal expression of p70S6k activation in hippocampus in mesial temporal lobe epilepsy.</p><p><b>METHODS</b>Temporal lobe epilepsy model was established by stereotaxically unilateral and intrahippocampal injection of kainite acid (KA) in adult male C57BL/6 mice. Latent and chronic epileptogenesis were represented by mice 5 days after KA injection (n = 5) and mice 5 weeks after KA injection (n = 8), respectively. Control mice (n = 5) were injected with saline. Immunohistochemical assays were performed on brain sections of the mice.</p><p><b>RESULTS</b>Hippocampus both ipsilateral and contralateral to the KA injection displayed significantly up-regulated pS6 immunoreactivity in dispersed granule cells in 5-day and 5-week model mice.</p><p><b>CONCLUSION</b>The activation of p70S6k is mainly located in the dentate gyrus in KA-induced mouse model of temporal lobe epilepsy, indicating that the activation may be related with the disperse degree and hypertrophy of granule cells.</p>

Influence of lipopolysaccharide on the permeability of rat brain microvascular endothelial cells and the molecular mechanism / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the influence of lipopolysaccharide (LPS) on the permeability of rat brain microvascular endothelial cells (BMECs) and possible molecular mechanism.</p><p><b>METHODS</b>Monolayers of primary rat BMECs were separated and cultured, and then treated with (LPS group) or without LPS (control group). The barrier integrity was measured by transendothelial electrical resistance (TEER) assay. The degrees of RhoA activation were determined by Pull-down assay. The expression levels of p115RhoGEF, zonula occludens-1 (ZO-1), occludin and claudin-5 proteins were detected by Western blot analysis.</p><p><b>RESULTS</b>The average TEER values of rat BMECs in the LPS group were 108.3±4.2 Ω•cm2 and 85.4±2.5 Ω•cm2 respectively 3 and 12 hrs after LPS treatment, which were significantly lower than that in the control group (159.0±8.6 Ω•cm2). Compared with the control group, the activity of RhoA started to increase 5 minutes after LPS treatment, and the expression of p115RhoGEF protein started to increase 1 hr after LPS treatment and the cellular protein levels of ZO-1, occludin and claudin-5 decreased significantly 3 hrs after LPS treatment in the LPS group (P<0.05).</p><p><b>CONCLUSIONS</b>LPS may activate the p115RhoGEF/RhoA pathway and decrease protein expression of ZO-1, occludin and claudin-5, resulting in an increased permeability of rat BMECs.</p>

Role of beta-catenin in the pathogenesis of mesial temporal lobe epilepsy / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore the role of beta-catenin in the pathogenesis of mesial temporal lobe epilepsy.</p><p><b>METHODS</b>Kainic acid-induced rat models of medial temporal lobe epilepsy was established. The expression of beta-catenin in the normal mice and the model mice were detected using Western blot analysis. The expression of beta-catenin at human hippocampus was detected using immunohistochemical analysis and immunofluorescence and compared between patients with non-hippocampal sclerosis temporal lobe epilepsy and those with hippocampal sclerosis epilepsy.</p><p><b>RESULTS</b>The pathologies of model mice were similar with those in mice with hippocampal sclerosis temporal lobe epilepsy, demonstrating that the mice model was successfully established. Western blot analysis showed no significant difference of beta-catenin expression between normal mice and model mice. As shown by immunohistochemical analysis and immunofluorescence, beta-catenin expression in human hippocampus was also not significantly different between patients with temporal lobe epilepsy without hippocampal sclerosis and those with hippocampal sclerosis.</p><p><b>CONCLUSION</b>Beta-catenin may not be involved in the development of hippocampal sclerosis of mesial temporal lobe epilepsy.</p>

Normative data and clinical practice of sinusoidal harmonic acceleration test / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To establish the normative data of sinusoidal harmonic acceleration test (SHAT) and evaluate the value of clinical application.</p><p><b>METHODS</b>One hundred and twenty normal persons, 21 Meniere's disease patients, 2 bilateral vestibular peripheral lesion patients, 15 unilateral vestibular peripheral lesion patients and 10 central lesion patients were tested with SHAT.</p><p><b>RESULTS</b>The calibration time was longer in the older persons. The phase decreased with the frequency, and the gain increased with the frequency, but the reliability of the re-test of the phase was better in the lower frequency. The results of the 7 Meniere's disease patients without symptoms were normal, 14 patients post-attack revealed abnormal, 11 had phase abnormal, 3 had gain decrease, 10 revealed asymmetry and spontaneous nystagmus simultaneously, 8 patients had two parameters abnormal. The unilateral vestibular peripheral lesion patients showed 73% (11/15) phase abnormal, 67% (10/15) gain decrease and 40% (6/15) asymmetry, while 5/6 asymmetry patients had spontaneous nystagmus. The gain of the bilateral vestibular peripheral lesion patients showed severe decrease. The abnormal rate in central lesion patients were 70% (7/10) in phase, 20% (2/10) in gain and 40% (4/10) in asymmetry, but the patients with asymmetry had no spontaneous nystagmus.</p><p><b>CONCLUSIONS</b>The normal range of the phase, gain and asymmetry of SHAT is in narrow bandwidth. The phase is the most important abnormal sign.</p>

Immortalized mouse brain endothelial cell line Bend.3 displays the comparative barrier characteristics as the primary brain microvascular endothelial cells / 中国当代儿科杂志

<p><b>OBJECTIVE</b>The purpose of this study was to assess weather the immortalized mouse brain endothelial cell line Bend.3 displays the comparative barrier characteristics as the primary brain microvascular endothelial cells (BEMC).</p><p><b>METHODS</b>Immortalized mouse brain endothelial cell line, Bend.3 cells were cultured in transwell inserts and their restrictive characteristics were assessed by transendothelial electrical resistance (TEER) and horseradish peroxidase (HRP) permeability assays. Western blot and direct fluorescent staining methods were used to detect the tight junction protein expression and F-actin distribution.</p><p><b>RESULTS</b>The TEER in Bend.3 cells increased with the prolonged culture time and increased to 82.3+/-6.0 Omega cm2 10 days after culture, which was significantly higher than that 3 days after culture (37.3+/-3.1 Omega cm2; P<0.05). There were significant differences in the permeability rates for HRP 3 and 10 days after culture (4.3+/-0.20)% vs (2.2+/-0.05)% (P<0.05). Western blot indicated high level expression of tight junction proteins occludin and ZO-1 in Bend.3 cells 10 days after culture. F-actin was visualized around the cell membrane and presented scrobiculate linear fluorescence 10 days after culture.</p><p><b>CONCLUSIONS</b>Bend.3 cells have similar barrier characteristics to BEMC, and their barrier function may reach to the best effect 10 days after culture.</p>

The tight junction proteins ZO-1, occludin and actin participate in the permeability increasing of blood-brain barrier induced by hypoxia-ischemia / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the changes of blood-brain barrier-tight junction (BBB-TJ) proteins ZO-1, occludin and actin following hypoxia-ischemia (HI) in order to explore the possible mechanism of permeability increasing of blood-brain barrier (BBB) induced by HI.</p><p><b>METHODS</b>BBB models were established by co-culture of cell ECV304 and astrocytes (AS) in vitro, then randomly assigned to control and HI groups. Transmission electron microscope was used to observe the changes of BBB-TJ. The distribution of actin was determined by direct-immunofluorescence microscope. Definite permeability of BBB models by 125I-BSA was detected by gamma events-per-unit-time meter. Expression of actin, ZO-1 and occludin was detected by Western blot.</p><p><b>RESULTS</b>After 10-day culture, endothelial cells connected tightly, with plenty of TJ which was smooth, continuous and of high density, in the BBB models. After 5 hrs of HI, the TJ was opened with intercellular gaps formation. The direct immunofluorescence showed that the peripheral filament bands became blurred, the cell-cell junction loosened and fissure appeared in the HI group. The permeability of 125I-BSA in the HI group increased significantly compared with the control group (P<0.01). Expression of ZO-1 decreased markedly, while expression of actin and occludin was not different in the HI group compared with the control group.</p><p><b>CONCLUSIONS</b>The changes in occludin distribution and decreased expression of ZO-1 lead the reorganization of BBB-actin protein, which may be one of the mechanisms of permeability increasing of BBB following HI.</p>

A pilot study on the proteome of cerebrospinal fluid of Staphylococcus epidermidis meningitis in children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>Bacterial meningitis is a kind of central nervous system infection with a high incidence, disability and fatality in children. Prompt diagnosis and treatment are associated with an improved prognosis. Low positive rate of bacterial cultures of the cerebrospinal fluid (CSF) makes it difficult to make a definite diagnosis. This experiment aimed to investigate a proteome profile of normal CSF of Chinese children by two-dimensional polyacrydamide gel electrophoresis (2-DE), and to sieve the disease-specific proteins of Staphylococcus epidermidis meningitis (SeM) to provide basis for early diagnosis and treatment of SeM.</p><p><b>METHODS</b>Four mL CSF samples were obtained respectively from SeM and normal children. The separated proteins with immobile pH gradient (IPG) 2-DE technology and protein spots were visualized by Coomassie Brilliant Blue staining. The stained 2-DE gels were scanned on the Imagescanner and pictures were obtained through Labscan software. The images were analyzed with PDQuest software and the differences of protein spots were compared between the SeM and normal children.</p><p><b>RESULTS</b>Mean protein spots of the 2-DE gels were 438 and 425 in the SeM and normal groups respectively. Twenty-five protein spots only occurred in normal CSF and 12 spots only occurred in the SeM group. The expression of 6 protein spots showed up-regulation and that of 19 showed down-regulation in the SeM group compared with that in the normal group.</p><p><b>CONCLUSIONS</b>A 2-DE profile of CSF proteome was successfully established in SeM and normal children through proteomic technique. By the differentiated analysis of these CSF 2-DE gels, the differences of CSF proteome profiles were found between SeM and normal children. Future analysis and identification of these spots will contribute to find out the disease specific proteins of SeM and to provide basis for early diagnosis and therapy of this disorder.</p>

Mutual interaction of vestibular afferent nervous system and vestibular efferent nervous system in vestibular compensation / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To study the mutual interaction of vestibular afferent nervous system and vestibular efferent nervous system in vestibular compensation.</p><p><b>METHODS</b>Build up animal model of vestibular compensation by destroying single side vestibule of wistar rat. In the study the rats were divided into 3 groups: Group A 16 normal rats; Group B 15 rats, after 7 days of left vestibular damage; Group C 7 rats 3 months after left vestibular damage; and Group D 7 rats, after vestibular compensation. Electromyography of the rats was recorded and the expression of calcitonin gene relative peptide (CGRP), choline acetyltransferase (AChT) and Na-K-ATPase were investigated in efferent vestibular nervous system.</p><p><b>RESULTS</b>Electric potential activity of muscles of injury side decreased while that of the opposite side increased. In animals of vestibular compensation electric potential of bilateral musculus longus capitis at quiescent stage recovered symmetrically. CGRP positive cells of efferent vestibular nervous system increased bilaterally, and their activity enhanced, especially obvious at the acute stage. AChT positive cells of injury side of efferent vestibular nervous system decreased, but reaction degree of two sides enhanced. Reaction degree of the opposite side enhanced obviously at the stage of vestibular compensation. Expression of Na-K-ATPase mRNA of the same side was lower, but vestibular signal of the opposite side enhanced, clinically head and neck inclined obliquely by means of medial fasciculus of tractus vestibulospinalis. Months later, vestibular signal of the same side enhanced, and that of the opposite side enhanced also, clinical symptoms improved slightly. At the vestibular compensation stage, expression of Na-K-ATPase mRNA of the same side enhanced, and it was same as that of the opposite side or much higher, clinically it reached vestibular compensation.</p><p><b>CONCLUSION</b>Comprehensive effect of the above results maybe as follows: Efferent vestibular nervous system inhibited afferent signal of the opposite vestibule, and it modulated excitement of vestibular center of the same side, and it worked in the complicated mechanisms of vestibular compensation. CGRP may have facilitation function to the vestibular afferent signal of injury side. While Ach improved vestibule compensation by means of inhibition of vestibule excitement of the healthy side.</p>

Characteristics of clinical manifestations and EEG of Lennox-Gastaut syndrome / 中华儿科杂志

<p><b>OBJECTIVE</b>Lennox-Gastaut syndrome (LGS) is one of the most severe and refractory form of childhood epilepsy. The purpose of this study was to investigate the clinical and EEG characteristics of patients with LGS.</p><p><b>METHODS</b>Sixty-two patients with LGS, including 37 males and 25 females, were followed-up regularly per three months or per six months, therapy was adjusted according to the changes in seizures and EEG, and the clinical data were analyzed in detail.</p><p><b>RESULTS</b>The onset occurred between the age of 8 months and 12 years, with the peak at 1-4 years of age, accounting for 61%; a late onset which occurred after 8 years of age, was unusual. Furthermore, one patient who developed LGS at the age of 13 years and remained to have all the features of seizures and EEG at 35 years of age was identified as adult's LGS. Forty-three patients were classified as symptomatic, perinatal events were the predominant factors in this group. The others were cryptogenic. It was noted that 11 cases had a history of West syndrome. A transformation process from West syndrome to LGS was observed in another 7 cases. Every patient had two or more seizure types during the course of the disease; tonic seizure, atypical absence seizure, head drop or sudden falls were the characteristic types. The degree of mental deficit was variable from slight to profound deterioration, but mental and behavioral disturbances existed in every case as a rule. In all cases electroencephalogram (EEG) background was abnormal and consisted of diffuse slow spike-and-waves (1-1.5CPS), predominant in frontal and temporal regions. Twenty-four cases had the polyspike-wave. Bursts of fast rhythms (10-14CPS) were observed in 29 patients during sleep. The choice of antiepileptic drugs (AEDs) was based on the seizure types; routinely, 2 or more kinds of AEDs were used in combination, the classic drugs, valproate and clonazepam were firstly recommended; the other drugs, such as lamotrigine and topiramate that are used as add-on therapy were further consideration. Although the total effect was not satisfactory, the severity and frequency of seizures in almost all cases had lessened to some extent.</p><p><b>CONCLUSION</b>LGS shows diverse manifestations; comprehensive diagnosis is crucial, active and efficacious treatment can improve the mental and behavioral development and prognosis as a whole.</p>

Thoracic spinal trauma associated with closed thoracoabdominal injury / 中华创伤杂志(英文版)

<p><b>OBJECTIVE</b>To explore the management of thoracic spinal trauma (TST) associated with closed thoracoabdominal injuries (CTAI).</p><p><b>METHODS</b>A retrospective study was made on 259 patients with TST admitted to our department as an emergency treatment from January 1996 to June 2001. We summarized the clinical features of TST associated with CTAI.</p><p><b>RESULTS</b>Among 259 patients with thoracic spinal trauma, 112 were associated with CTAI. Traffic accident was the most common cause. The force causing upper TST was more violent than that causing the lower. Pulmonary complications were the leading cause of death in this group. Surgery could not improve neurological function for completely paraplegic patients.</p><p><b>CONCLUSIONS</b>The reason that upper TST has the tendency to be associated with CTAI is its special anatomical feature. Routine ultrasonic examination can avoid misdiagnosis of latent closed abdominal injuries associated with spinal injury. The presence of potential injuries, especially CTAI, should be considered when deciding whether or not to perform surgery early.</p>