T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy / 中华儿科杂志

<p><b>OBJECTIVE</b>Childhood absence epilepsy (CAE) is one of the most frequently recognized syndromes among the idiopathic generalized epilepsies (IGEs). It is considered to be a hereditary disease. The possible inheritance pattern of CAE is polygenic. The genes responsible for CAE, however, have not yet been identified. The aim of this study was to further investigate based on the authors' recent work whether or not T-type calcium channel gene-CACNA1H is a susceptibility gene to childhood absence epilepsy.</p><p><b>METHODS</b>The authors conducted the mutation screening of the exons 6-12 and the nearby partial introns of the CACNA1H gene using the method of direct sequencing of PCR products in 48 newly found CAE patients.</p><p><b>RESULTS</b>The authors found 13 single nucleotide polymorphisms (SNPs). They also found 4 mutations which only existed in CAE patients. Both G773D and H515Y mutations were heterozygous. The mutation of H515Y has never been reported previously. The patient inherited the mutation from his mother. The authors found two CAE patients with the mutation of G773D previously. This is the third time that the authors found one more CAE family with this G773D mutation, and the patient with the mutation G773D inherited the mutation from his father.</p><p><b>CONCLUSION</b>T-type calcium channel gene-CACNA1H might be a susceptibility gene to childhood absence epilepsy.</p>

Effect of fuzheng jianpi recipe on content of trace element and immune function in children with spleen deficiency anorexia / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To evaluate the efficacy and prospect of Fuzheng Jianpi Recipe (FZJPR) in treating children's Spleen deficiency anorexia (CSDA) by means of observing its effect on trace element content and immune function.</p><p><b>METHODS</b>One hundred and thirty cases of CSDA were treated with FZJPR, one dose per day in decoction, orally taken, 30 days for one therapeutic course. Levels of T-lymphocyte subsets, IL-2R, immunoglobulin and trace elements were determined before and after treatment, and compared with those in the control group consisted of 60 healthy children.</p><p><b>RESULTS</b>In the treated group, abnormal figures were shown in T-lymphocyte subsets, especially in lowering of CD3 and CD4 count before treatment, and IgG content was reduced also. After treatment, CD3, CD4, CD4/CD8 ratio as well as IgG and IgA were improved significantly (P < 0.01), IL-2R percentage approached normal. Moreover, the levels of Zn and Fe changed significantly (P < 0.01).</p><p><b>CONCLUSION</b>FZJPR could improve the trace elements content and immune function in CSDA children, so it is effective in treating CSDA.</p>