Clinical Characteristics of Headache in Children / 대한소아신경학회지

PURPOSE: Headache is a common neurological condition for children to seek for medical care. The underlying causes of headache include migraine, tension type headache, intracranial masses, and sinusitis and so on. The study was aimed to analyze the clinical findings and the results of neuroimaging studies in children with headache. METHODS: A total of 120 children with headache were involved in the study who replied to the questionnaires at the department of pediatrics of Soonchunhyang University Hospital from March 2006 to October 2012. We evaluated the causes of headache by MRI scans and classified them based on the International Classification of Headache Disorders (2nd Edition, ICHD-II), 2004. RESULTS: Thirty one out of 120 children (25.8%) were classified as secondary headache with abnormal MRI findings such as sinusitis, pineal cyst, venous angioma, demyelinating disease and 89 (74.2%) patients were classified into primary headaches. Migraines without aura were diagnosed in 43 (48.3%) patients, migraine with aura in 18 (20.2%) patients, and tension type headache in 21 (23.6%) patients respectively. There was no significant difference on the median age between the patients with primary (10.5 years) and secondary (9.13 years) headache. When compared by gender ratio, primary and secondary headaches were 1.34:1 and 2.1:1 respectively. CONCLUSION: The correct diagnosis of headache may not be simple due to a variety of presentations of headache in children. We therefore have to pay a close attention to their complaints and get the neuroimaging study done if necessary.

An Arg528His Mutation of the CACNL1A3 Gene in a Korean Family with Hypokalemic Periodic Paralysis / 대한소아신경학회지

Familial hypokalemic periodic paralysis (HOPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness with concomitant hypokalemia (<3.5 mEq/L). The onset of HOPP usually occurs within the first and second decade of life. Mutations in the skeletal muscle calcium (CACNL1A3) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Voltage-sensitive ion channels mediate action potentials in electrically excitable cells and play important roles in signal transduction in other cell types. Therefore, abnormalities in a channel's function lead to disarray of signal transduction and thus various neurological symptoms. Those are called channel diseases, which include familial HOPP. We report a 14-year-old boy with HOPP from a family in which two members of two generations are affected. Genetic examination identified a mutation causing a codon change from arginine to histidine at the amino acid portion #528 (R528H) in the calcium channel gene CACNL1A3.

A Simple, Quantitative Method for Assessing Angiogenic Genes Using Skeletal Muscle by Electroporation-Mediated Naked DNA Delivery

BACKGROUND AND OBJECTIVES: For the development of an arteriogenic gene therapy in peripheral artery occlusive disease, we developed a novel angiogenesis assay, with electroporation-mediated naked DNA delivery to the skeletal muscle. MATERIALS AND METHODS: The levels of the expression CAT were compared between pJDK and pcDNA3.1, in HeLa and C2C12 cell lines, and skeletal muscle. The well known angiogenic gene, pJDK-hVEGF165, was injected, intramuscularly, into the tibialis anterior muscle of Balb/C mice, which was followed by electroporation. Two days later, the anterior tibialis muscles were divided into halves, embedded, and cultured in growth factor-reduced Matrigel. The capillary network area formed by the newly sprouting tube-like structures was calculated. For validation of this ex vivo assay, the connective tissue growth factor gene (pJDK-CTGF) was tested both by this new assay, and by the mice-hind limb ischemia model, with Laser Doppler imaging. RESULTS: The pJDK showed a significantly higher level of CAT expression than the pcDNA3.1. From the pJDK-hVEGF165 injected explants, endothelial cell migration and tube-like formation occurred on day 2, and the capillary network formation peaked on day 7. The capillary network formation in the pJDK-hVEGF165 group was markedly increased to that in the pJDK group. From the skeletal muscle assay, the pJDK-CTGF showed no angiogenic activity or attenuated VEGF-induced capillary network formation. The LDI flux ratio, on day 10 in the mice-hind limb ischemia model, for the mice treated with the pJDK-CTGF and pJDK-hVEGF165 was significantly lower than that of the mice treated with the pJDK-hVEGF165 alone. CONCLUSION: The skeletal muscle ex vivo assay, using an electroporation-mediated naked DNA delivery, is a simple, quantitative and reproducible method for assessing angiogenic genes. CTGF could be an anti-angiogenic factor due to its inhibition of VEGF.