ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus (GEFS+), and to provide potential molecular targets for the diagnosis and treatment of GEFS+.</p><p><b>METHODS</b>The iPLEX technique in the MassARRAY system was used to determine SCN1A rs3812718 polymorphism, genotype frequency, and allele frequency in 50 patients with GEFS+ and 50 healthy controls.</p><p><b>RESULTS</b>As for the frequencies of CC, CT, and TT genotypes in SCN1A rs3812718, there was a significant difference in the frequency of TT genotype between the GEFS+ group and the control group (P<0.05). There was also a significant difference in the frequency of T allele between the two groups (P<0.05). Compared with those carrying CC genotype or C allele, the individuals with CT genotype , TT genotype or T allele had a higher risk of developing GEFS+ (CT/CC: OR=4.05, 95%CI: 1.04-15.69; TT/CC: OR=30.60, 95%CI: 6.46-144.85; T/C: OR=4.64, 95%CI: 2.54-8.48).</p><p><b>CONCLUSIONS</b>SCN1A rs3812718 polymorphism is a risk factor for GEFS+, and the population carrying T allele may have an increased risk of GEFS.</p>
ABSTRACT
<p><b>OBJECTIVE</b>To study the diagnostic value of heart rate variability (HRV) in heart dysfunction in children with beta-thalassemia major (β-TM)by examining the changes of HRV in β-TM children.</p><p><b>METHODS</b>A 24 hours Holter monitoring electrocardiogram (Holter) was performed in 21 children with β-TM and 15 healthy children (control group). The time domain and frequency domain indexes of HRV in the two groups were compared. The correlation between serum ferritin levels and HRV was evaluated.</p><p><b>RESULTS</b>The time domain indexes SDNN, rMSSD and PNN50 and the frequency domain indexes very low frequency (VLF), low frequency (LF) and high frequency (HF) in the β-TM group were significantly lower than in the control group (P<0.05). There was no correlation between serum ferritin level and HRV in children with β-TM.</p><p><b>CONCLUSIONS</b>The autonomic nerve dysfunction exists in children with β-TM. HRV analysis is useful in the prediction of early cardiac dysfunction in children with β-TM.</p>