Objective To evaluate the long-term clinical efficacy and security of levetiracetam (Lev) as add-on therapy in patients with different types of epilepsies from an observational study.Methods Fifty-one patients were evaluated (14 female,37male,age range from 7months to 16 years,mean age 8.7 years) with different types of epilepsies ( 20 complex partial seizure,10 tonic-clonic seizure,1 tonic seizure,6 myoclonic epilepsy,2 Lennox-Gastaut syndrome,4 infantile spasms and 2 unspecified epileptic syndromes).The basis for comparison was defined as the seizure frequency in the 3 months prior to the commencement of treatment.Patients received Lev as add-on therapy.The initial dosage was 20 mg/(kg?d),and it was increased 10 mg/(kg?d) every 2 weeks.The maintenance dosage was 30-40 mg/(kg?d).Seizure frequency changes and adverse events were observed.Follow-up was conducted for a period of 6.8 months after treatment.SPSS 14.0 software was used to compare the difference between the seizure frequency before the Lev treatment and that after the Lev treatment.Results Thirteen (25.5%) out of the 51 patients reduced seizure frequency,16 (31.4%) patients had no reoccurrence;While another 9 (17.6%) patients seizure frequencied were reduced,8 patients' remained the same,and 5 patients' condition was got wor-sened.Six cases ceased treatment because of the worsening of the disease and the intolerance of Lev.The difference and after seizure frequency before in Lev treatment is statistically significant(P

0.05).The period when epileptiform abnormalities appear was obviously different(P

0.05).Of essay group 19 children whose PET were normal or slight abnormal,8 children's VEEG had epileptifrom abnormalities only appear in lucid interval,8 children's VEEG had epileptifrom abnormalities appear in nocturnal sleep period,3 children's VEEG had epileptifrom abnormalities appear in lucid interval and nocturnal sleep period.Of essay group,7 children whose PET were serious abnormal,6 children's VEEG had epileptifrom abnormalities appear in lucid interval and nocturnal sleep period.The PET outcome was relate with the time of VEEG epileptic discharge(r=0.461 P

Objective To assess the long efficacy and safety of Lamotrigine(LTG) monotherapy and add-on therapy different types of epileptic seizures in children.Methods According to the classification of the 1981 and 1989 International Union of Antiepileptic for epileptic seizure,a total of 124 cases with epilepsy were included in the study and divided into non-refractory group with 93 cases and refractory group with 31 cases.LTG treatment only or add-on were used.Original drug dosage was not changed and LTG was added slowly and carefully untill the terrible side effect appeared.The average monthly seizure frequency with baseline in the last 3 months was compared and the side effect was observed.Results Total efficiency was 72.6%,control rate was 51.6%.Total efficiency and control rate of the non-refractory group was 81.0% and 61.3%,which was significantly higher than those of refractory group(48.4%,22.6%).Total efficiency and control rate of the combination group with LTG and valproate sodium(VPA) was 78.4% and 54.5%,which was significantly higher than those of the group of LTG only(61.0%,44.0%).Clinical results was different significantly between the course of the observation period within and over 5 years(P

Objective To study Caveolin-1,EGFR expression in bladder transitional call carcinoma and their prognostic value. Methods Immunohistochemical method was used to detect Caveolin-1,EGFR in 89 cases.of bladder transitional call carcinoma.Results In 89 cases,the percentage of abnormal Caveolin-1 and EGFR expression were 37.1% and 50.6 % respectively.Significant change was observed in different grade case,P

OBJECTIVETo investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM).

METHODSThe clinical data of 15 children with TSC complicated by CRM were collected. The clinical features of the patients were analyzed, and TSC gene mutations were detected.

RESULTSEleven cases (73%) developed multiple CRM. The majority of the tumors were located in the left and right ventricles. Most tumors presented as a round-like hyperechogenic mass with a clear margin on echocardiography. Arrhythmias occurred in 3 patients and 2 patients experienced heart failure. Gene mutation tests were performed in 2 patients, and pathogenic mutations were detected in both patients, which were TSC1 mutation and TSC2 mutation, respectively. Three patients were followed up for 6 to 38 months, and their CRM shrank or regressed spontaneously.

CONCLUSIONSTSC-associated CRM is generally multiple. Heart failure and arrhythmias may occur in some patients. Echocardiography is important for diagnosis of CRM. TSC-associated CRM has an inclination to spontaneous regression. TSC can be diagnosed at a molecular genetic level by TSC gene mutation detection.

Child, Preschool ; Female ; Heart Neoplasms ; complications ; genetics ; Hemodynamics ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Rhabdomyoma ; complications ; genetics ; Tuberous Sclerosis ; etiology ; Tumor Suppressor Proteins ; genetics

Spinal nerve injury causes mechanical allodynia and structural imbalance of neurotransmission, which were typically associated with calcium overload. Storeoperated calcium entry (SOCE) is considered crucial elements-mediating intracellular calcium homeostasis, ion channel activity, and synaptic plasticity. However, the underlying mechanism of SOCE in mediating neuronal transmitter release and synaptic transmission remains ambiguous in neuropathic pain. Neuropathic rats were operated by spinal nerve ligations. Neurotransmissions were assessed by whole-cell recording in substantia gelatinosa. Immunofluorescence staining of STIM1 with neuronal and glial biomarkers in the spinal dorsal horn. The endoplasmic reticulum stress level was estimated from qRT-PCR. Intrathecal injection of SOCE antagonist SKF96365 dose-dependently alleviated mechanical allodynia in ipsilateral hind paws of neuropathic rats with ED 50 of 18 μg. Immunofluorescence staining demonstrated that STIM1 was specifically and significantly expressed in neurons but not astrocytes and microglia in the spinal dorsal horn. Bath application of SKF96365 inhibited enhanced miniature excitatory postsynaptic currents in a dosage-dependent manner without affecting miniature inhibitory postsynaptic currents. Mal-adaption of SOCE was commonly related to endoplasmic reticulum (ER) stress in the central nervous system. SKF96365 markedly suppressed ER stress levels by alleviating mRNA expression of C/ EBP homologous protein and heat shock protein 70 in neuropathic rats. Our findings suggested that nerve injury might promote SOCE-mediated calcium levels, resulting in long-term imbalance of spinal synaptic transmission and behavioral sensitization, SKF96365 produces antinociception by alleviating glutamatergic transmission and ER stress. This work demonstrated the involvement of SOCE in neuropathic pain, implying that SOCE might be a potential target for pain management.

Objective To investigate the image changes of proton magnetic resonance spectroscopy (1H-MRS) in children with epilepsy and their clinical significance. Methods Sixty-four patients with epilepsy,admitted to our hospital from March 2008 to March 2011,and 10 healthy children as control group were chosen in our study; the patients were divided into MR normal group and MR abnormal group according to the results of MR imaging. All of them received 1H-MRS examination on the hippocampal area.The ratio of NAA/Cho+Cr was compared between each 2 groups. Results No significant differences on the ratio of NAA/Cho+Cr were noted between the fight and left sides in all the groups (P＞0.05).The ratio of NAA/Cho+Cr was significantly different:MR normal group and control group enjoyed obvious difference as compared with MR abnormal group (P＜0.05); however,MR normal group and MR abnormal group existed no statistically significant differences (P＞0.05). Conclusion 1H-MRS is more sensitivity than MRI in children with epilepsy,therefore,1H-MRS can find the lesions earlier than MR imaging.

OBJECTIVETo investigate the gene mutations of CHRNB2 and CHRNA2 in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).

METHODSOne hundred and six Han nationality patients (74 sporadic and 32 familial) were recruited and studied. Mutational screening was performed by sequencing all the 6 coding exons of the CHRNB2 gene and exons 6 and 7 of the CHRNA2 gene including the donor and acceptor splice sites.

RESULTSThe results excluded the involvement of all known published mutations of the CHRNB2 and CHRNA2 genes. However, a novel synonymous mutation c.483C>T (H161H) and a single nucleotide polymorphism (c.1407C>G) of CHRNB2 gene were detected in two ADNFLE sporadic patients respectively. The nucleotide variation H161H was heterozygous and absent in 200 healthy control samples. The mutation was also found in the proband's unaffected mother.

CONCLUSIONOur study suggests that the mutations of CHRNB2 and CHRNA2 genes may be rare in Chinese ADNFLE population. The novel synonymous mutation of H161H has not been reported previously and its impact on the pathogenesis of ADNFLE needs to be further studied.

Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; Epilepsy, Frontal Lobe ; genetics ; Female ; Genes, Dominant ; Humans ; Male ; Mutation ; Receptors, Nicotinic ; genetics

OBJECTIVETo investigate mutations of CHRNA4 gene in Chinese patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).

METHODSTwo hundred and fifty-seven patients (including 215 sporadic and 42 familial cases) were analyzed. Mutational screening was performed by sequencing all of the 6 exons of the CHRNA4 gene including the donor and acceptor splice sites.

RESULTSThe results have excluded the involvement of any known mutations of the CHRNA4 gene. A novel synonymous mutation c.570C>T(D190D) and 6 single nucleotide polymorphisms (SNPs) of the CHRNA4 gene were detected in 6 sporadic cases, including c.639T/C, c.678T/C, c.1209G/T, c.1227T/C, c.1659G/A, and c.1629C/T. The SNP D190D was hererozygous and absent in 200 healthy controls.

CONCLUSIONThis results suggested that mutations of the CHRNA4 gene may be rare in southern Chinese population with ADNFLE. The synonymous mutation D190D has not been reported previously. Its impact on the pathogenesis of ADNFLE warrant further study.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; methods ; Epilepsy, Frontal Lobe ; genetics ; Female ; Genes, Dominant ; Humans ; Infant ; Male ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide ; Receptors, Nicotinic ; genetics ; Young Adult