ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of the spastic ataxia of Charlevoix-Saguenay (SACS) gene in a pedigree affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of the proband and her family members. All exons and flanking sequences of the SACS gene were analyzed by high-throughput sequencing. Suspected mutations were verified with Sanger sequencing.</p><p><b>RESULTS</b>Next generation sequencing revealed novel compound heterozygous mutations of the SACS gene, namely c.13085T to G (p.I4362R) and c.5236dupA (p.T1746fs), in the proband, which were respectively derived from her parents. The mutations were confirmed by Sanger sequencing.</p><p><b>CONCLUSION</b>The c.5236dupA (p.T1746fs) and c.13085T to G (p.I4362R) mutations of the SACS gene probably underlie the ocular symptoms and hearing loss in the proband.</p>
ABSTRACT
Human body structure,as a national excellent course,is a professional basic course for the students in medical related majors.After years of teaching practice,many teaching experience are collected,however,some problems in teaching practice still occurre such as how to carry out teaching methods specific for different majors,how to accomplish the course for teachers and how to grasp the macro-and micro-cosmic human structures for students in fewer class hours,and how to improve the students' self-regulation of learning.Aiming at the problems above,the human body structure teaching team improves teaching methods,teaching content and assessment system,and effectively enhance the teaching effectivene.
ABSTRACT
Background:Colorectal polyps,especially adenomatous polyps are the precusor of colorectal cancer. Screening and polypectomy by using colonoscopy is an important approach for prevention of colorectal cancer. Aims:To conduct a retrospective analysis among 1 613 cases of patients with colorectal polyps in Jiading District,Shanghai,China for guiding the management of colonoscopy surveillance of colorectal polyps. Methods:A total of 2 652 colorectal polyps detected by colonoscopy from Jan. 2013 to Aug. 2014 in the Endoscopy Center of Shanghai Ruijin Hospital Northern Branch were recruited in the study. Clinicopathological features of the polyps,coincidence rate of biopsy pathology and polypectomy pathology,and the re-detected polyps in colonoscopic follow-up were analyzed. Results:In 2 652 colorectal polyps,1 996 (75. 3% )were located in distal colon;adenomatous polyps accounted for 77. 5%(2 056 / 2 652)of the polyps detected by colonoscopy,of which 804(39. 1% )were found to have intraepithelial neoplasia. Both biopsy pathology and polypectomy pathology were obtained in 447 polyps,with an overall coincidence rate of 60. 4% ;as for adenomas,the coincidence rate was 68. 1% . Two hundred and eighteen pathologically proved polyps were found in a 1. 5-year colonoscopic follow-up, among which 74. 3% were adenomatous polyps;the re-detection rate of polyps located in proximal colon or less than 1. 0 cm in diameter was significantly higher than polyps located in distal colon and more than 1. 0 cm in diameter, respectively(12. 3% vs. 6. 9% and 9. 0% vs. 4. 5% ,P all < 0. 01). Conclusions:Adenomatous polyps account for high proportion of colorectal polyps detected by colonoscopy. Pathological examination of resection specimens and periodical follow-up are important for patients with colorectal polyps after endoscopic polypectomy.