Association between clinical features and prognosis of patients with limb-shaking transient ischemic attack / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>This review aims to illustrate the relationship between clinical features and the prognosis of patients with limb-shaking transient ischemic attack (LS-TIA).</p><p><b>DATA SOURCES</b>Relevant articles published in two main Chinese medical periodical databases (China National Knowledge Infrastructure and China Science Periodical Database) from 1986 to June 2013 were identified with keywords "limb shaking" and "transient ischemic attack".</p><p><b>STUDY SELECTION</b>Original articles and case reports about LS-TIA were selected.</p><p><b>RESULTS</b>A total of 63 cases collected from 19 articles were included in the pooled analysis. LS-TIA presented in two cerebrovascular diseases, of which atherosclerotic high-grade stenosis or occlusion in carotid artery system and moyamoya disease formed 95.2% and 4.8%, respectively. Of 63 patients, 11 (17.5%) were once misdiagnosed as epileptic and prescribed useless antiepilepsy drugs. The multivariable Logistic regression model showed a significant protective effect of patients with revascularization therapy on prognosis, compared with patients treated with drugs (odds ratio 0.20, 95% CI 0.05-0.74, P = 0.016).</p><p><b>CONCLUSIONS</b>Chronic carotid artery system hypoperfusion can induce limb(s) shaking, followed by high possibility of ischemic stroke in the same brain territorial. Revascularization of the responsible artery may work better than conservative drug-based therapy.</p>

Adjuvant electrical stimulation for patients with dysphagia during the acute phase of ischemic stroke / 中国脑血管病杂志

Objective: To evaluate the efficacy of adjuvant electrical stimulation for patients with dysphagia during acute phase of ischemic stroke. Methods: Twenty-three patients with acute ischemic stroke complicated with dysphagia were divided into a control group (n = 10) and a treatment group (n = 13). The control group only received conventional treatment, and the treatment group received adjuvant electrical stimulation on the basis of conventional treatment. The efficacy evaluation was conducted by using Watian water swallowing test, visual assessing scale (VAS) score, functional oral intake scale (FOIS), National Institute of Health Stroke Scale (NIHSS) score, and modified Rankin scale (mRS) score. Results: Circled digit oneWatian water swallowing test, VAS score, and NIHSS score were all decreased after the treatment in the two groups. There were statistical significances (P 0.05). Circled digit twoAfter comparing the different values of each score before and after the treatment in the treatment group with those in the control group, there were no statistical significances. Circled digit threeThe patients were followed up for mean 8.7 months, the swallowing function almost returned to normal in both groups. There was no statistical significance in FOIS and mRS scores between the treatment group and the control group. Conclusion: The swallowing function of the patients was improved significantly after being treated with the two treatment modalities, however the adjuvant electrical stimulation did not have more benefits than the conventional treatment.

R1239H mutation of CACNA1S gene in a Chinese family with hypokalaemic periodic paralysis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Mutation screening was performed to a Chinese family with hypokalaemic periodic paraiysis(HOKPP) for locating the corresponding mutations of gene and for specifying the clinical features associated with mutations.</p><p><b>METHODS</b>The cilnical features of patients from HOKPP family were summurized. Techniques of target exon PCR and direct sequencing were used to screen the mutation in CACNA1S and SCN4A genes in all numbers of the family.</p><p><b>RESULTS</b>Two patients of the family showed the typical features of HOKPP: the age of disease onset is during the childhood, acetazolamide is effective to patients treated. A heterozygous point mutation 3716 (G>A) causing R1239H was found in exon 30 of CACNA1S gene of the patients, but not found in normal members of the family.</p><p><b>CONCLUSION</b>The mutant R1239H in CACNA1S gene exists in Chinese patients with familial hypokalaemic periodic paralysis.</p>

The mutation V781I in SCN4A gene exists in Chinese patients with normokalemic periodic paralysis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>In this report are reviewed two unrelated patients with typical normokalemic periodic paralysis (normoKPP) features and the results of screening the SCN4A gene for the disease-related mutation.</p><p><b>METHODS</b>Two sporadic cases with normoKPP were screened for previously known mutations in SCN4A gene (T704M, A1156T, M1360V, I1495F, M1592V) that lead to hyperKPP; denaturing high performance liquid chromatography (DHPLC) was used. Then the rest exons of SCN4A gene were screened by DHPLC, and sequence analysis was performed on those with DHPLC chromatogram variation when compared with unaffected control.</p><p><b>RESULTS</b>Two cases and one patient's father were detected with V781I, which was proved to be a singular missense mutation in SCN4A gene.</p><p><b>CONCLUSION</b>The mutation V781I exists in Chinese patients with normoKPP and may be responsible for normoKPP.</p>