Clinical analysis of 15 pediatric patients with tuberous sclerosis complex complicated by cardiac rhabdomyomas / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical features in children with tuberous sclerosis complex (TSC)-associated cardiac rhabdomyomas (CRM).</p><p><b>METHODS</b>The 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.</p><p><b>RESULTS</b>Eleven 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.</p><p><b>CONCLUSIONS</b>TSC-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.</p>

Analysis of the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal epilepsy

OBJECTIVE@#To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE).@*METHODS@#Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects. Genomic DNA was extracted, and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing.@*RESULTS@#No CHRNA7 gene mutation was detected in all of the NFLE patients. However, five single nucleotide polymorphisms (SNPs) in sporadic cases were found, located in exons 5, 6, and 7 of the CHRNA7 gene. Among them, c.690G>A and c.698A>G are known SNPs, while c.370G>A, c.654C>T, and c.497-498delTG were newly discovered SNPs. These SNPs were also found in some of the healthy controls.@*CONCLUSIONS@#No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE. The CHRNA7 gene is probably not responsible for NFLE in this population.

Analysis of the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal epilepsy

Objective: To detect the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal lobe epilepsy (NFLE). Methods: Blood samples were collected from 215 Southern Han Chinese patients with NFLE and 200 healthy Southern Han Chinese control subjects. Genomic DNA was extracted, and CHRNA7 whole genome exons were amplified by the polymerase chain reaction and subjected to Sanger sequencing. Results: No CHRNA7 gene mutation was detected in all of the NFLE patients. However, five single nucleotide polymorphisms (SNPs) in sporadic cases were found, located in exons 5, 6, and 7 of the CHRNA7 gene. Among them, c.690G>A and c.698A>G are known SNPs, while c.370G>A, c.654C>T, and c.497-498delTG were newly discovered SNPs. These SNPs were also found in some of the healthy controls. Conclusions: No CHRNA7 gene mutation was identified in Southern Han Chinese patients with NFLE. The CHRNA7 gene is probably not responsible for NFLE in this population.

Relationship between serum levels of neuron-specific enolase and severity of electroencephalogram in epileptic children / 中华实用儿科临床杂志

Objective To investigate the relationship between the serum levels of neuron-specific enolase (NSE) and the severity of electroencephalogram(EEG) in children with epilepsy.Methods Two hundred and thirty epileptic children and 74 healthy children were enrolled in the study.Serum level of NSE was detected and video EEG was performed before and 1 year after treatment of the epileptic children respectively.Serum level of NSE in healthy control group was also detected.Results The serum level of NSE before treatment of the epileptic children was significantly higher than that of healthy control group(P ＜ 0.001).There was no significant difference in serum level of NSE between generalized seizures and focal seizures (P =0.13).The serum level of NSE 1 year after treatment was significantly decreased compared with that before treatment (P ＜ 0.001),while the degree of severity on EEG was improved significantly.The serum level of NSE of abnormal EEG group was higher than that of the normal range EEG group and bounded EEG group(all P ＜0.05),there was positive correlation between serum level of NSE and the severity of EEG (rs =0.605,P ＜ 0.001).Conclusions The serum levels of NSE are related to the severity of EEG changes.Serum NSE combined with EEG can betterly predict the degree of brain damage in epileptic children.

None mutation in the CHRNA4 gene of 6 families of South China with autosomal dominant noctumal frontal lobe epilepsy was found / 中华实用儿科临床杂志

Objective To investigate the virulence gene and mutation features in the Chinese patients with autosomal dominant noctumal frontal lobe epilepsy(ADNFLE) by using the direct sequencing(DS) PCR products with all the exons of CHRNA4 in 6 ADNFLE families,and to interpret the molecular pathogenesis in Chinese patients affected by ADNFLE.Methods Six ADNFLE families were collected,included 66 people and 24 patients with ADNFLE,and 200 healthy volunteers were selected as control group.The genomic DNA was extracted.The exons 1-6 in CHRNA4 were amplified by the PCR.The amplified products were sequenced and analyzed.All data were analyzed with SPSS 13.0 software.Results There were 4 base substitutions in exon 5,and they were c.909T ＞ G,c.1440G ＞ T,c.1458T ＞ C and c.942C ＞ T.All those base substitutions were synonymous.The first three were homozygosis substitutions,but the last one was heterozygosis substitutions.Conclusions The hot spot mutations of CHRNA4 which have been reported were not detected.Whether or not there is a correlation between ADNFLE and this substitution need to be identified by study with

Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate mutations of CHRNA4 gene in Chinese patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).</p><p><b>METHODS</b>Two 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>This 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.</p>