Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis / 中华儿科杂志

<p><b>OBJECTIVE</b>Periodic paralysis (PP) is one type of skeletal muscle channelopathies characterized by episodic attacks of weakness. It is usually classified into hyperkalemic periodic paralysis (HyperPP), hypokalemic periodic paralysis (HypoPP) and normokalemic periodic paralysis (NormoPP) based on the blood potassium levels. HypoPP is the most common type of these three and NormoPP is the rarest one. The aim of this study was to explore the clinical and genetic features of a Chinese family with normokalemic periodic paralysis (NormoKPP).</p><p><b>METHOD</b>Clinical features of all patients in the family with NormoKPP were analyzed. Genomic DNA was extracted from peripheral blood leukocytes and amplified with PCR. We screened all 24 exons of SCN4A gene and then sequence analysis was performed in those who showed heteroduplex as compared with unaffected controls.</p><p><b>RESULT</b>(1) Fifteen members of the family were clinically diagnosed NormoKPP, and their common features are: onset within infacy, episodic attacks of weakness, the blood potassium levels were within normal ranges, high sodium diet or large dosage of normal saline could attenuate the symptom. One muscle biopsy was performed and examination of light and electronic microscopy showed occasionally degenerating myofibers. (2) Gene of 12 patients were screened and confirmed mutations of SCN4A genes--c. 2111 T > C/p. Thr704Met.</p><p><b>CONCLUSION</b>The study further defined the clinical features of patients with NormoKPP, and molecular genetic analysis found SCN4A gene c. 2111 T > C/p. Thr704Met point mutation contributed to the disease. In line with the autosomal dominant inheritance laws, this family can be diagnosed with periodic paralysis, and be provided with genetic counseling. And the study may also help the clinical diagnosis, guide treatment and genetic counseling of this rare disease in China.</p>

Callus culture of embryos in Sophora japonica and analysis on isoflavones content / 中草药

Objective: To establish the callus culturing system of embryos in Sophora japonica, and to analyze the contents of isoflavones in callus. Methods: Through adding the plant growth regulators of different kinds and at different concentration, the optimal media for callus induction, suspension cell culture, and the highest isoflavone content were obtained. Results: The optimal medium for callus induction of embryos in S. japonica was B5 + 2, 4-D (1.0 mg/L) + 6-BA (0.2 mg/L) + sucrose (20 mg/L). In solid medium, the callus was growing rapidly after 7 d, and the yield reached to the highest on the day 35 (fresh weight 7.4137 g), but the isoflavone content had no significant changes. In suspension culture, the yield of callus reached to the highest on the day 24 (fresh weight 11.563 8 g), and the callus turned into decline phase after 24 d, in which the fresh and dry callus weights were descending. With continuous culture, the cells were browning gradually, aging, and dying at last, but the isoflavone content was opposite to growth curve, and reached its lowest point (4.826 mg/g) on the day 24. Conclusion: The induction and cultivation of embryos callus in S. japonica and the isoflavone content have a larger correlation with the plant growth regulators of the kinds and the concentration.

Clinical characteristics and treatment of Rasmussen syndrome in 16 children / 中华儿科杂志

<p><b>OBJECTIVE</b>Rasmussen syndrome (RS) is a chronic inflammatory disease of unknown origin, usually affecting one brain hemisphere. The present study aimed to analyze the electroclinical characteristics and treatment of RS.</p><p><b>METHODS</b>The medical records of 16 children with RS were retrospectively reviewed.</p><p><b>RESULTS</b>Of the 16 children, 8 were males and 8 were females. The age of onset was from 1 year and 11 months to 11 years and 6 months. The first symptom was seizure in all patients. The main seizure type was partial motor seizures. In all the patients, seizures gradually became frequent and in the form of epilepsia partialis continua (EPC). Thirteen cases developed hemiparesis. Fixed hemiparesis occurred from 2 months to 3 years after the onset of seizures. The cognitive deterioration was present in 14. The EEG background activity was abnormal in all the cases, asymmetric slow wave disturbances were bilateral but with unilateral predominance in 11, unilateral delta or theta wave in 8. The presence of interictal epileptiform discharges were found in all cases, unilateral in 11 and bilateral in 5. Seizures were recorded in all patients, no electroclinical correlation was found in 5. Serial magnetic resonance imaging (MRI) showed progressive unihemispheric or focal cortical atrophy in all cases. Six cases transiently showed focal cortical swelling or T2/FLAIR hyperintense signal on early scans. Antiepileptic drugs were not effective in any of the patients. Three of 10 patients receiving immunoglobulin, and 4 of 8 receiving corticosteroids, had some reduction of seizure frequency for a short period. Six patients accepted functional hemispherectomy, in 4 of them seizure no longer occurred and cognitive function was improved. The results of multiple subpial transection in 2 cases and focal resection in one patient were disappointing.</p><p><b>CONCLUSION</b>The clinical features of RS were refractory partial epilepsy, progressive hemiplegia and cognitive deterioration. The EEG background was asymmetric with slow wave activity, interictal epileptiform discharges were unilateral or bilateral, no electroclinical correlation occurred. Serial MRI showed progressive unihemispheric focal cortical atrophy. Antiepileptic drugs were not effective for RS. In some patients, immunoglobulin or corticosteroids could reduce seizure frequency in the short term. Functional hemispherectomy could lead to seizure control and prevent further development of neurological impairment and cognitive deterioration.</p>