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>

Relationship between interleukin-6 gene-572C/G polymorphism and chronic periodontitis / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between interleukin-6 (IL-6) gene -572C/G polymorphism and the risk of chronic periodontitis disease.</p><p><b>METHODS</b>IL-6-572C/G genotype polymorphism was examined in 93 patients with chronic periodontitis and 96 control subjects by PCR restriction fragment length polymorphism (PCR-RFLP) method.</p><p><b>RESULTS</b>IL-6-572GG genotype and G allele were more frequent in chronic periodontitis patients than that in control subjects (P<0.05). -572CC, CG and GG genotype frequency were 52.7 % , 40.9 %, 6.4 % in chronic periodontitis patients and 67.7 %, 31.3%, 1.0 % in control subjects, respectively. -572CG + GG genotype and G allele were more frequent in patients than that in control subjects (P<0.05). Compared with CC genotype,the odds ratio for chronic periodontitis was 1.88 (95% CI: 1.04-3.40, P<0.05) for CG + GG genotype.</p><p><b>CONCLUSIONS</b>The frequency of -572CG + GG genotype was higher in patients with chronic periodontitis compared with the control subjects. IL-6-572C/G polymorphism may be a genetic susceptibility factor for chronic periodontitis in Chinese Hans population.</p>