Brain ; diagnostic imaging ; pathology ; DNA Mutational Analysis ; Exons ; Galactosylceramidase ; genetics ; metabolism ; Humans ; Infant ; Leukodystrophy, Globoid Cell ; diagnosis ; enzymology ; genetics ; pathology ; Magnetic Resonance Imaging ; Male ; Mutation ; Radiography

OBJECTIVEDespite 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.

METHODSThe 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.

RESULTSThere 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).

CONCLUSIONSThere 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.

Child, Preschool ; China ; ethnology ; Female ; Humans ; Infant ; Interleukin-1beta ; genetics ; Male ; Polymorphism, Single Nucleotide ; Seizures, Febrile ; genetics

Objective To explore the influence of antenatal taurine supplementation on the expression of key signaling molecule of Ras homolog gene-Rho associated coiled-coil forming protein kinase-proliferating cell nuclear antigen(Rho-ROCK-PCNAR) pathway in fetal rat brain with intrauterine growth restriction (IUGR),and to understand whether or not taurine can improve neuron regeneration in IUGR fetal rats by this signaling pathway.Methods Thirty pregnant rats were randomly divided into 3 groups:control group,IUGR model(IUGR group) and IUGR + antenatal taufine supplements group(IUGR + taurine group).Taurine was added to the diet of IUGR + taurine group at a dose of 300 mg/(kg · d) from 12 days after conception until natural delivery.The level of mRNA expressions of Ras homolog gene A(RhoA),Rho-associated coiled coil-forming protein kinase 2 gene (ROCK2 gene) and PCNA gene were detected by Real time-PCR.The PCNA positive cell counts were detected by immunohistochemistry.Results 1.The level of RhoA,ROCK2 and PCNA mRNA in the IUGR group,IUGR + taurine group and control group were respectively:RhoA mRNA 1.757±0.041,1.498 ±0.011 and 1.000 ±0.000(P＜0.05);ROCK2 mRNA 1.548 ±0.231,1.094 ±0.049 and 1.000 ± 0.000 (P ＜ 0.05) ; PCNA mRNA 2.007 ± 0.800,3.034 ± 0.670 and 1.000 ± 0.000 (P ＜ 0.05).2.The PCNA positive cell counts in control group,IUGR group and IUGR + taurine group were respectively 11.30 ± 3.18,22.24 ± 6.17 and 77.80 ± 14.60 (P ＜ 0.05).Conclusions Antenatal supplementation of taurine can inhibit the expression of key signaling molecule of Rho-ROCK pathway and improve the expression of PCNA in IUGR fetal brain,which provides a further theoretical basis for the application of antenatal taurine to improve IUGR fetal brain development.

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.

OBJECTIVE: To evaluate the efficacy and safety of tacrolimus in the treatment of children with myasthenia gravis (MG). METHODS: A total of 28 children with MG were treated with tacrolimus. MG-Activities of Daily Living (MG-ADL) scale was used to assess clinical outcome and safety after 1, 3, 6, 9, and 12 months of treatment. RESULTS: After tacrolimus treatment, the MG-ADL score at 1, 3, 6, 9 and 12 months was lower than that at baseline (P<0.05), and the MG-ADL score showed a gradually decreasing trend. The response rates to tacrolimus treatment at 1, 3, 6, 9, and 12 months were 59%, 81%, 84%, 88%, and 88% respectively. At 6, 9, 12, and 18 months of treatment, 4, 13, 14, and 15 children respectively were withdrawn from prednisone. No recurrence was observed during treatment. Major adverse reactions/events were asymptomatic reduction in blood magnesium in 5 children and positive urine occult blood in 1 child, which turned negative without special treatment, and tacrolimus was not stopped due to such adverse reactions/events. One child was withdrawn from tacrolimus due to recurrent vomiting. According to CYP3A5 genotypes, all of the patients were divided into two groups: slow metabolic type (n=19) and non-slow metabolic type (fast metabolic type + intermediate type; n=9). The non-slow metabolism group received a higher dose of tacrolimus, but had a lower trough concentration of tacrolimus than the slow metabolism group (P<0.05). The slow metabolism group had a higher response rates to tacrolimus treatment than the non-slow metabolism group (P<0.05). CONCLUSIONS Tacrolimus appears to be effective and safe in the treatment of children with MG and is thus an option for immunosuppressive therapy. CYP3A5 genotyping has a certain guiding significance for determining the dosage of tacrolimus.
Activities of Daily Living ; Child ; Humans ; Immunosuppressive Agents ; Myasthenia Gravis ; drug therapy ; Neoplasm Recurrence, Local ; Tacrolimus ; therapeutic use