ABSTRACT
<p><b>OBJECTIVE</b>Despite substantial research efforts worldwide, the role of inflammatory cytokine IL-1β in the onset of febrile seizures (FS) remains controversial. The aim of this study was to assess the relationship between rs16944 polymorphism of the IL-1β-511T gene and occurrence of simple FS in a sample of Han children in northern China.</p><p><b>METHODS</b>The IL-1β-511T gene rs16944 was genotyped by SNaPshot SNP technique in 141 FS children and 130 healthy control subjects. The genotypic and allelic frequencies in the two groups were comparatively analyzed.</p><p><b>RESULTS</b>There were no significant differences in genotypic and allelic frequencies of rs16944 polymorphism of the IL-1β-511T gene between FS patients and control subjects (P>0.05).When the clinical data on A/A, A/G and G/G genotypes of the rs16944 polymorphism in FS patients, there was statistically significant difference in age of first onset (χ(2)=19.491, P<0.01), temperature of first onset (χ(2)=9.317, P<0.05) and family history of FS (χ(2)=26.798, P<0.01).</p><p><b>CONCLUSIONS</b>There is no association between rs16944 polymorphism of the IL-1β-511T gene and the incidence of FS in Han children in Northern China. However, the differences in genotypes of this polymorphism might be associated with pathogenesis and prognosis of simple FS in the population studied.</p>
Subject(s)
Child, Preschool , Female , Humans , Infant , Male , China , Ethnology , Interleukin-1beta , Genetics , Polymorphism, Single Nucleotide , Seizures, Febrile , GeneticsABSTRACT
Objective To explore whether single nucleotide polymorphism(SNP) of nicotinic acetylcholine receptor subunit α-4(CHRNA4) or synapsin Ⅱ (SYN2) gene can be used as markers of susceptibility to simple febrile seizure(FS) in the Han children of North China.Methods The CHRNA4 gene rs1044396 and SYN2 gene rs3773364 were genotyped by adopting SNaPshot SNP technique in 141 simple FS children and 130 healthy normal controls.The genotype and allele gene frequency in the 2 groups were compared.Results There were no significant differences in the genotype and allele gene in CHRNA4 gene rs1044396 and SYN2 gene rs3773364 between FS children and healthy controls(all P ＞ 0.05) ; As compared with the FS's clinical data of A/A,A/G,G/G genotypes of the CHRNA4 gene rs1044396 polymorphism and C/C,C/T,T/T genotypes of SYN2 gene rs3773364 polymorphism,there was statistically significant difference in age of first onset in rs 1044396 polymorphism (x2 =17.206,P ＜ 0.001),and there were statistically significant differences in ages and temperature of first onset and gender(x2 =21.458,8.717,10.424,all P ＜0.05) in rs3773364.Conclusions There is no association of CHRNA4 gene rs1044396 polymorphism or SYN2 gene rs3773364 polymorphism with the incidence of simple FS in the Han children of North China,but they may be associated with the age and temperature of first onset.
ABSTRACT
<p><b>OBJECTIVE</b>Topiramate is a new broad-spectrum anti-epileptic drug. Decreased body weight and appetite are common side effects of topiramate. The side effect affects the growth and development in children greatly. Little is known about the mechanisms of topiramate-induced weight loss and decreased appetite in children with epilepsy in China and abroad. galanin is one of factors that affect appetite. It is a neuroendocrine peptide and play an important role in the control of appetite and body weight in the mechanism of hormone release. The purpose of this study was to explore the mechanism of topiramate-induced weight loss in children with epilepsy and the relation of weight loss with change of galanin, thereby to provide evidences for improvement of quality of life, compliance to treatment and reduce side effects of growth and development in children with epilepsy.</p><p><b>METHODS</b>Totally 61 patients with especial epilepsy were enrolled into this study and the disease was defined by clinical manifestations and electroencephalography (EEG). Among them 32 cases had generalized seizures and 29 had local seizures. Sixteen normal children were enrolled as control group. The patients' age ranged from 0.5 to 14 (4.76 +/- 4.05) years and the patients were instructed to take 0.5 - 1 mg/kg of topiramate per day, with 0.5 - 1 mg/kg every 3 - 5 d increased to maximum of 3 - 8 mg/kg per day. Patients continued receiving the doses for 4 months. All patients' serum galanin levels and body height and weight and hepatic function were detected before and after antiepileptic drugs treatment. The galanin was detected by using radioimmunoassay.</p><p><b>RESULTS</b>After treatment with topiramate (61 cases) for 4 months, plasma galanin [(22.01 +/- 8.12) pg/ml] declined as compared with baseline [(26.56 +/- 9.35) pg/ml, t = 2.85, P < 0.01] in children with epilepsy. Twenty-two of 61 patients lost weight, their plasma galanin concentration was significantly lower [(26.51 +/- 10.00) pg/ml vs. (20.45 +/- 8.09) pg/ml, t = 2.91, P < 0.01], but there was no significant change in the weight-gained patients (39/61) and control group (n = 16). In children with epilepsy, the mean value of body weight decreased as compared with the pre-treatment values, but the difference was not significant; however, the body-mass index (BMI) was significantly lower than that obtained before treatment (t = 8.628, P < 0.01). Eighteen of 22 patients who lost weight had decreased appetite, but only five of 39 patients who gained weight showed decreased appetite (chi(2) = 28.50, P < 0.001). The mean value of plasma galanin declined after treatment in patients (23 cases) with decreased appetite [(18.35 +/- 7.80) pg/ml vs. (27.28 +/- 6.90) pg/ml, t = 4.84, P < 0.001]; while plasma galanin did not change significantly after treatment in patients (38 cases) without decreased appetite [(24.23 +/- 7.66) pg/ml vs. (26.12 +/- 5.49) pg/ml, t = 1.04, P > 0.05].</p><p><b>CONCLUSION</b>Topiramate treatment may lower the body weight and reduce appetite in part of children with epilepsy which may be mediated by the reduced plasma galanin level.</p>