Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 3 de 3
Filter
Add filters








Language
Year range
1.
Chinese Journal of Medical Genetics ; (6): 630-633, 2018.
Article in Chinese | WPRIM | ID: wpr-688180

ABSTRACT

<p><b>OBJECTIVE</b>To explore the characteristics of mutations 4 common deafness-related genes among 216 patients from Shanghai area with non-syndromic hearing impairment (NSHI).</p><p><b>METHODS</b>Thirteen mutation sites in the four genes, namely GJB2 (c.35delG, c.176del16, c.235delC, c.299delAT, and c.155delTCTG), SLC26A4 (c.IVS7-2A>G, c.2168A>G, and c.1229C>T), mtDNA 12SrRNA (m.1494C>T, m.1555A>G, m.7445A>G, and m.12201T>C) and GJB3 (c.538C>T) were detected among the 216 patients and 41 individuals with normal hearing. The frequency and types of mutations were compared between the two groups.</p><p><b>RESULTS</b>Among the 216 NSHI patients, the total detection rate was 16.20% (35/216). GJB2 mutations were found in 17(7.87%) of the 216 patients, which included 5 cases with homozygous c.235delC mutation, 5 with homozygous c.235delC mutation, 1 with homozygous c.299delAT mutation, and 1 with homozygous c.299delAT mutation. c.235delC and 299delAT mutations were found in 5 cases. SLC26A4 mutation was found in 12(5.56%) of the 216 patients, which included 2 cases with homozygous c.IVS7-2A>G mutation, 9 with homozygous c.IVS7-2A>G mutation, and 1 with homozygous c.2168A>G mutation. Homogeneous mtDNA 12SrRNA m.1555A>G mutation was found in 6(2.78%) of the 216 patients. No GJB3 gene mutation was detected. No mutation of the 4 genes were detected in the 41 individuals with normal hearing. In 2 cases of the 12 patients with SLC26A4 gene mutation, CT scan of the temporal bone has confirmed expansion of vestibular aqueduct.</p><p><b>CONCLUSION</b>Above results indicated that GJB2 and SLC26A4 were the major genes involved with hearing loss in Shanghai area.</p>

2.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 325-327, 2011.
Article in Chinese | WPRIM | ID: wpr-953822

ABSTRACT

@#ObjectiveTo explore the effect of cluster needling of scalp acupuncture combined with rehabilitation(Tang's Approach) on the spasticity after stroke.Methods39 stroke patients with spasm were divided into observation group and control group. The observation group received anti-spasm acupuncture combined with rehabilitation therapy, while the control group received baclofen combined with rehabilitation therapy. Spasm and activities of daily living(ADL) and therapeutical effect were assessed with the Modified Ashworth Scale and Barthel Index.ResultsThere was no significant difference between the two groups (P>0.05). ConclusionTang's Approach has the same effect as baclofen to improve the spasm after stroke without serious side-effect.

3.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 304-306, 2011.
Article in Chinese | WPRIM | ID: wpr-953814

ABSTRACT

@#The researches that stroke was treated by cluster needling of scalp acupuncture combined with rehabilitation in the past 10 years were reviewed, noting that it can significantly reduce the dysfunctions in stroke patients, prompting that the cluster needling of scalp acupuncture and modern rehabilitation techniques was combined, was a new method for stroke rehabilitation treatment.

SELECTION OF CITATIONS
SEARCH DETAIL