Case report of early-onset epileptic encephalopathy caused by FGF12 gene mutation / 中华实用儿科临床杂志

The data of a child with early-onset epileptic encephalopathy in Qilu Children′s Hospital of Shandong University in February 2020 were analyzed retrospectively.The child was a 4-month-old girl, who was admitted to the hospital because of " repeated convulsions for 4 months and feeding difficulty for 1 month" at the age of 4 months.The patient suffered from epilepsy 1 day after birth, and the epilepsy type was tonic seizures.Severe developmental retardation was observed in the patient.Electroencephalogram showed multifocal discharge, which then turned to hypsarrhythmia.The cranial imaging was negative.Feeding difficulty occurred at the age of 3 months.The genetic testing revealed a de novo heterozygous missense mutation in the FGF12 gene (Arg114His). Various antiepileptic drugs and ketogenic diet were ineffective.There was no attack in 2 months after adding Phenytoin.The child could eat on her own after seizure control, but there was no progress in intellectual and motor development.Mutations in the FGF12 gene lead to poor prognosis of early-onset epileptic encephalopathy, and the seizures are difficult to control.Sodium ion channel blockers such as Phenytoin should be used as soon as possible.

Paraparesis, leucodystrophy and brain atrophy are neurological manifestations of congenital immunodeficiency disease? / 中华实用儿科临床杂志

A 4-year-old boy complained of weakness of the lower limbs for one and a half month.The child had been diagnosed as X-linked agammaglobulinemia (XLA) at 1-year old.In recent one and a half month,he gradually suffered from activity intolerance and fatigue,inability to jump and run,staggering gait and slow speech.All the symptoms above indicated deteriorating motor function.The brain magnetic resonance imaging revealed abnormal signals in white matter and brain atrophy.The cerebrospinal fluid analysis detected the presence of oligoclonal immunoglobulin G band.In short term after intravenous immunoglobulin and methylprednisolone treatment,the boy's lower extremity function and speech speed were slightly improved.However,at 1-year follow-up,the boy's condition became even worse.The child could not sit without support and had difficulty in swallowing.The child could not speak or follow any commands.Neurological examination revealed spastic quadriplegia and pseudobulbar palsy.Progressive neurodegeneration is not a common syndrome in patients with XLA.Brain biopsy is an important approach clinically to find out etiology.

Recent advances in diagnosis and treatment of PEHO syndrome / 中国医师杂志

The progressive encephalopathy with edema,hypsarrhythmia,and optic atrophy (PEHO) syndrome is a unique pediatric neurodevelopmental disorder,characterized by a combination of severe mental retardation,early onset epileptic seizures,pedal edema,optic/cerebellar atrophy,and early death.The affected individuals have neither optic atrophy nor the typical neuroradiological findings has been described as PEHO-like syndrome.At present,there are few reports about PEHO syndrome in China.In this study,we summarizes the incidence,etiology,clinical manifestations,and related genes of PEHO syndrome,and aims to provide assistance for future clinical work.

Advances in the research of astrocyte elevated gene-1 / 中国病理生理杂志

Astrocyte elevated gene-1 (AEG-1) was cloned as an human immunodeficiency virus -1-inducible and tumor necrosis factor-α-inducible transcript in primary human fetal astrocytes by a rapid subtraction hybridization approach. AEG-1 down-regulates the expression of the glutamate transporter EAAT2, thus, it is implicated in glutamate-induced excitotoxic damage to neurons as evident in HIV-associated neurodegeneration. Meanwhile, AEG-1 expression is elevated in subsets of breast cancer, prostatic cancer, glioblastoma multiforme and melanoma cells, having a dual specificity phosphatase activity. Overexpression of AEG-1 increases and siRNA inhibition of AEG-1 decreases migration and invasion of human glioma cells, respectively. Recent observations indicate that AEG-1 exerts its effects by activating the nuclear factor kappa B (NF-κB) pathway and AEG-1 is a downstream target of Ha-ras and plays an important role in Ha-ras-mediated tumorigenesis. These findings are intensifying interest in AEG-1 as a crucial regulator of tumor progression and metastasis and as a potential mediator of neurodegeneration.

Study of level and structure of intelligence in children with benign epilepsy of childhood with centrotemporal spikes / 中华神经科杂志

Objective To study the level and structure of intelligence in children with benign epilepsy of childhood with centrotemporal spikes(BECT)and investigate factors affecting their intelligence.Methods Congitive skills such as intelligence quotient(IQ),phonological test and morphological test,were evaluated in 47 children with BECT,and the results were compared to a control group of 30 children matched for gender,age,level of education and family background.The effects of age of onset,disease course,seizure frequency,seizure type,location of spike,and spike and wave index(SWI)on the level and structure of intelligence were also analyzed.Results The total IQ score was slightly lower in children with BECT(104.20±12.34)when compared to the control group of normal children(109.45±15.01),but the difference was not significant.There was no difference in performance IQ scores between BECT and normal children.BECT children had a lower verbal IQ score(90.67±18.40)when compared to the control group(98.17±13.18,t=3.431.P<0.05).Analyses of verbal subtests revealed significant differences between BECT and normal children in vocabulary and similarities(5.97±2.95 vs 8.51±3.67 and 4.85±3.02 vs 6.95±3.07,respectively,t value were 2.365 and 2.096,both P<0.05).The differences between BECT and normal children were also significant in phonological test and morphological test (12.56±2.3 vs 16.78±3.72 and 22.35±3.25 vs 24.15±5.28,respectively,t=2.478 and 2.770,both P<0.05).SWI was negatively correlated with verbal IQ,vocabulary,similarities,phonological test and morphological test(r=-0.305--0.838,P<0.05).Age of onset,disease course and seizure frequency were not correlated with verbal IQ,phonological test and morphological test.The level of intelligence was not different among children with left hemispheric foci,fight hemispheric foci or bilateral foci.The level of intelligence Was similar between children with partial seizures or secondarily generalized seizures.Conclusions Children with BECT have normal level of intelligence,but the structure of intelligence is abnormal with retardation of their language ability.SWI affects the language ability in children with BECT,but age of onset,seizure type and location of spike do not influence their language ability.

Indices of hip development in children with spastic diplegia and their sensitivity / 中华物理医学与康复杂志

Objective To assess the sensitivity of indices of hip development in children with spastic diple-gia resulting from cerebral palsy. Methods X-ray images of the hips of 57 children with cerebral palsy ( the cere-bral palsy group) were checked, and the acetabular index ( AI), femur head migration percentage ( MP), center-edge angle and neck-shaft angle (NSA) were compared with those of normal children ( the control group, n = 30).Results The differences in MP and NSA between the two groups were significant. The prevalence of hip subluxation was 20.45% among the children with spastic diplegia who could not walk independently, and the prevalence was sig-nificantly greater in children 3 to 5 years old than among those under 3. Conclusion The MP can be used as a sen-sitive index to evaluate hip development. Age is a relevant factor affecting the hip development of children with cere-bral palsy.

The expression and significance of protein tyrosine phosphatase SHP2 in juvenile rat bacterial meningitis model / 中华传染病杂志

Objective To explore the expression and significance of protein tyrosine phosphatase SHP2 in experimental bacterial meningitis.Methods A juvenile rat bacterial meningitis model was established by direct intraeisternal injection with Streptococcus pneumoniae. Uninfected control animals were mock-infected with sterile saline.The transcription and expression of SHP2 were detected by reverse transcription-polymerase chain reaction(RT-PCR),Western blot and immunohistochemistry techniques respectively at 1,3,7 and 14 days after infection.White blood cell(WBC)count,concentration of tumor necrosis factor-alpha(TNF-α)in cerebrospinal fluid(CSF)were also measured.Variables that were not normally distributed were compared by the Kruskal-Wallis test.Multiple comparison used Student-Newman-Keuls(SNK).The association between variables was assessed by using the Pearson correlation coefficient.Results Compared with uninfected controls,rats with bacterial meningitis showed a significant upregulation of SHP2 at both mRNA and protein levels(F=12.74,P<0.01;F=198,P<0.01).S HP2 mRNA levels peaked at 3 days after infection increasing more than five fold and remained at high levels at 7 days.In parallel,SHP2 protein levels began to increase at 3 days after infection,reaching a maximal increase of nearly nine fold at 7 days and remained at high levels at 14 days. Immunohistochemical analysis of SHP2 expression in the juvenile rat brain demonstrated that SHP2 labelling cells,identified as neuronal and glial cells,widely distributed in the cerebral cortex and the increased immunoreactive cells around the third ventricle were mainly glial cells.In addition,the protein levels of SHP2 and WBC counts were significantly correlated with each other(r=0.77,P<0.01),while there were no significant correlations between levels of SHP2 and TNF-a (r=0.08,P>0.05).Conclusions SHP2 may participate the pathological progress of the bacterial meningitis,restrating the inflammation and accelerating the renovation,so it can be regard as an index to measure the state of the illness.

The effects of hyperbaric oxygen therapy on promotion of intellectual rehabilitation in infants with severe hypoxic-ischemic encephalopathy / 中华物理医学与康复杂志

Objective To explore the long-time effects of hyperbaric oxygen(HBO) therapy on the promotion of intellectual rehabilitation in infants with severe hypoxic-ischemic encephalopathy(HIE). Methods Forty-seven infants with severe HIE were randomly divided into a HBO group(n=24) and a control group(n=23). All the infants were treated with routine therapy for three months,in addition to HBO treatment in the HBO group once a day for four courses of 10 d with the interval of 10~15 d. Neonatal Behavioral Neurological Assessment (NBNA)assay was employed at 7 and 28 d after born,and Bayley Scale of Infant Development (BSID)assay was got at two years in two groups, as well as Wechsler Preschool and Primary Scale of Intelligence(WPPSI)assay at five years, in order to evaluated the short-time and long-time effects of HBO on intellectual rehabilitation in infants with HIE. Results Compared with that in the control group, the score of NBNA in the HBO group was significantly higher at 28 d(P

Effect of Topiramate on Spatial Learning and Memory of KA-induced Rats / 中国心理卫生杂志

Objective:To investigate the chronic effect of topiramate on spatial learning and memory to young rats. Methods:P28 KA-induced rats were used. After 8-week treatment of topiramate, spontaneous recurrent seizures were recorded; Spatial learning and memory ability was evaluated by Morris water maze. Results: TPM-treated rats had significantly fewer(3.50?3.84) spontaneous recurrent seizures than rats without TPM treatment(7.36?3.75). On the first day of Morris water maze, they also had statistically longer latency to the platform(590.6?230.9 s) than those from the group without TPM treatment (422.6?122.3 s), but no latency differences were found in the following three days. TPM had no effect on water maze performance to rats without KA induction. After three days of interval, no differences were found in all groups under the same experimental situation.Conclusion:For developing rat brain, TPM has no impairment on the ability of long-term memory and information retrieval meanwhile its negative effect on spatial learning is temporary.