ObjectiveTo study the clinical features of children with seizures as core symptoms of neuronal surface antibody syndromes. MethodsThe clinical data of neuronal surface antibody syndromes between December 2015 and December 2016 were obtained and analyzed. All children presented to hospital with seizures as core symptoms. ResultsThere were 1 male and 9 females in this study. The ages ranged from 3 years to 13 years. The disease course was between 3 and 14 days. All children presented to hospital with seizures as core symptoms.Two children had tonic seizures. one had tonic-clonic seizure. Seven had partial seizures. Among them, six children had status epilepticus and cluster attack. The other symptoms in the course of the disease were psychiatric symptoms and extrapyramidal symptoms.The anti-NMDAR antibody were found in 9 patients' CSF and blood. The LGI1 antibody was found in one patients' CSF and blood.The EEG test of 7 patients showed slow wave and sharp slow wave. Two showed spike wave. One showed slow wave.The MRI test of one patient showed abnormal. Ten cases were treated with IVIG and methylprednisolone during acute stage. The patients had been followed up for 3 to 6 months. Eight of them recovered completely. Two cases had seizures. Two cases diagnosed with anti-NMDAR related epilepsy received sound effects after treated with cyclophosphamide. ConclusionsConvulsion may be the first common symptom of neuronal surface antibody syndromes in children. Immune factors should be screened when children with acute seizures and status epilepticus. Accompanying psychiatric symptoms, autoimmune epilepsy should be considered. The most common neuronal surface antibody in children with neuronal surface antibody syndromes is NMDAR antibody. EEG usually shows slow wave and sharp slow wave during seizures. Brain MRI is usually normal. Immunotherapy is effective in the majority of patients as the first line treatment. When the first-line treatment failed, second-line immunotherapy such as cyclophosphamide shock therapy on a regular basis is helpful.
ObjectiveTo summarize the clinical characteristics of epilepsy comorbid with tic disorders in children, and discuss its diagnosis, treatment and management. MethodsThe clinical data of 12 epileptic children comorbid with tic disorders treated in Wuhan children's Hospital affiliated to Tongji Medical College of Huazhong University of Science and Technology from December, 2018 to June, 2021 was collected retrospectively. The clinical characteristics, EEG, MRI, treatment, prognosis of epileptic children comorbid with tic disorders were analyzed and summarized. ResultsThere were 12 epileptic children comorbid with tic disorders in total, 11 males, 1 female, average (10.0±2.9) years old. The onset age of epilepsy was ranged from 0.6 to 11 years old, average (6.5±3.3) years old. The onset age of tic disorders ranged from 3.5 to 11 years old, average (7.2±2.0) years old. The epileptic seizure types included focal seisures (Focal, 8 cases), atypical absence seizures(AAS, 2 cases), myoclonic seizure (MS, 1 case), generalized tonic-clonic seisures (GTCS, 3 cases). The epileptic syndromes included benign epilepsy with centrotemporal spikes (BECT, 2 cases), Dravet syndrome (1 case), juvenile myoclonic epilepsy(JME, 1 case), temporal lobe epilepsy (TLE, 1 case).The average oral antiepileptic seizure drug was 1, including lamotrigine(LTG), valproic acid(VPA), oxcarbazepine(OXC), levetiracetam(LEV), topiramate(TPM) and Perampanel. The clinical course of tic disorders ranged from 0.5 to 3.0 years, average (1.5±0.9) years. The clinical types included provisional tic disorder (PTD, 4 cases), chronic tic disorder (CTD, 5 cases, all of which were motor tics) and Tourette syndrome (TS, 3 cases). The severity of tic disorders was mild up to the last follow-up. In addition to tic disorders, other comorbidities included attention deficit and hyperactivity disorder (ADHD, 2 cases), 1 children was mixed type, 1 children was hyperactive impulse dominated type, psychomotor development disorder(3 cases), enuresis (1 case) and emotional disorder (1 case). There were interictal epileptiform discharges in 12 children with EEG, including focal discharges(7 cases, 1 EEG showed that focal discharges originated from the right temporal region), multiple discharges (5 cases, 1 EEG showed that multiple discharges originated from the right centro-temporal region), and clinical seizures were monitored in 6 cases (3 cases of focal seizures, 2 cases of atypical absence seizures, and 1 case of myoclonic seizure). Magnetic resonance imaging (MRI) of head showed no obvious abnormalities. The follow-up time was ranged from 0.5 to 3.0 years. Up to the last follow-up (2022.01.01), 8 cases of epilepsy had been controlled and 4 cases of tic disorders were cured. The prognosis of epilepsy comorbid with tic disorders in most children was good. ConclusionsThe prognosis of epilepsy comorbid with tic disorders in most children is good, the types of epileptic seizures and epileptic syndromes are various. Prognosis of these chidren mainly depends on the control of epileptic seizures, the severity of tics and existence of other neuropsychiatric comorbidities. Therefore, drug treatment mainly focuses on controlling the epileptic seizures, and the impact of comorbidities on children can not be ignored. The clinical management needs regular follow-up, timely evaluation and corresponding interventions.
Objective To explore the effects of celecoxib, a selective COX-2 inhibitor, on the expression of NHE1 and intracellular pH (pHi) of SGC-7901 human gastric carcinoma cells. Methods Human gastric carcinoma cell line SGC-7901 was used as research object. MTT method was used to detect the celecoxib's depressant effect on the proliferation of SGC-7901 cells after intervening with different concentrations of celecoxib (5, 12.5, 25, 50, 75, and 100 μmol/L) for different time. Western blot was applied to detect influence of different concentrations of celecoxib on NHE1 expression in SGC-7901 human gastric carcinoma cells. On this basis, pHi of SGC-7901 cells was tested by BCECF-AM immunofluorescence. Results Celecoxib could effectively inhibit the proliferation of SGC-7901 human gastric carcinoma cells. And within a certain concentration range, the inhibitory action on SGC-7901 cells increased with the increase of celecoxib concentration. It also increased with the extension of explosion time while at the same concentration (P<0.05). Different concentrations (except 5 μmol/L) of celecoxib could down-regulate the expression of NHE1 in SGC-7901 cells, which was concentration dependent (P<0.05). The pHi of SGC-7901 cells that were not intervened with celecoxib is alkaline. Compared the pHi of cells in control group, the pHi of SGC-7901 cells decreased significantly after intervening with different concentrations of celecoxib (except 5 μmol/L) for 24 h (P<0.05). And the decrease of pHi was also concentration dependent (P<0.05). Conclusion Celecoxib may inhibit the growth of SGC-7901 cells through down-regulating the expression of NHE1 and declining the pHi.
ObjectiveTo explore the genotype and phenotype of PCDH19 gene related epilepsy.Methods41 probands, including 39 girls and 2 boys collected from pediatric department of the Peking University and Neurology Department of Wuhan Children's Hospital from February 2005 to April 2017, were diagnosed as PCDH19 gene related epilepsy. The clinical features of the probands and affected relatives were retrospectively analyzed. PCDH19 mutations were detected by Sanger sequencing or targeted next generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA).Results40 in 41 probands with PCDH19 mutations were detected by sequencing and one was detected by MLPA.Two male epilepsy patients with mosaic PCDH19 mutations were detected by NGS with the mutant allele fraction of 85% and 33%. Among 39 female probands, 19 were with inherited mutations and 20 were de novo mutations. The penetrance of females with PCDH19 mutation was estimated as 90% (53/59). Twelve hemizygous fathers and one mosaic father were asymptomatic.The clinical phenotypes of female mutation carriers included epilepsy with mental retardation, Dravet syndrome, febrile seizures, or even asymptomatic. The phenotypic heterogeneity was noticed in females with identical mutations even in members from the same family. The median seizure onset age of 46 patients (including 41 probands and 5 affected relatives) were 11 months (range 4~42months).During the course, 87% (40/46) patients experienced generalized tonic clonic seizures (GTCSs) and 69.6% (32/46) experienced focal seizures. Other rare seizures types included myoclonic seizures (6/46), absence seizures (3/46) and atonic seizures (1/46). Seizures in clusters were observed in all patients, fever sensitivity in 80.4% (37/46), and status epilepticusin only three, cognitive impairment in 76% (35/46) and 7 with autistic features.ConclusionMutations in PCDH19 can be inherited or de novo. Most patients are females, rare mosaic males can be affected or asymptomatic. PCDH19 gene related epilepsy shows incomplete penetrance and variable expressivity.Seizures occurring in clusters and sensitive to fever are the major features.