ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of chloride channel l (CLCN1) gene in a family affected with myotonia congenita.</p><p><b>METHODS</b>Clinical data of the proband and her parents and brother was collected. The coding regions of the CLCN1 gene were subjected to PCR and Sanger sequencing.</p><p><b>RESULTS</b>Two missense mutations (c.937G>A and c.1205C>T), which were respectively located within exons 8 and 11 of the CLCN1 gene, were identified in the proband. The mother and father of the proband were found to harbor the c.937G>A and c.1205C>T mutation, respectively, whilst neither mutation was found in her brother.</p><p><b>CONCLUSION</b>The novel missense CLCN1 mutations probably underlie the disease in this family. These have enriched the spectrum of CLCN1 mutations and may facilitate further research on this disorder.</p>
ABSTRACT
Breast cancer is the most common malignancy in women,which not only brings serious harm to female health but also substantially increased the burden of social medical care.Therefore it is necessary to adopt effective treatment strategies to control the social harm caused by cancer.Radiotherapy plays a critical role in the adjunctive therapy of breast cancer,which significantly reduces the risk of local recurrence and improves the long-term survival of breast cancer patients.In recent years,intraoperative radiotherapy has become a research hotspot in breast conserving surgery treatment,and is gradually applied in clinic with the advantage of mild side effect and shortening the patients′later treatment time.
ABSTRACT
Breast cancer is the most common malignancy in women,which not only brings serious harm to female health but also substantially increased the burden of social medical care.Therefore it is necessary to adopt effective treatment strategies to control the social harm caused by cancer.Radiotherapy plays a critical role in the adjunctive therapy of breast cancer,which significantly reduces the risk of local recurrence and improves the long-term survival of breast cancer patients.In recent years,intraoperative radiotherapy has become a research hotspot in breast conserving surgery treatment,and is gradually applied in clinic with the advantage of mild side effect and shortening the patients′later treatment time.