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Objective:To identify the disease-causing mutation in a Chinese family with Stickler syndrome type 1.Methods:The pedigree investigation was conducted.A Chinese family with Stickler syndrome type 1 was enrolled in the Shantou International Eye Center in June 2012.Medical history collection and clinical examinations, such as vision, intraocular pressure, slit lamp microscopy and fundus, were carried out in all the included family members and the diagnosis was made by clinical experts.Total genomic DNAs were extracted from the peripheral blood samples (5 ml) obtained from 5 patients and 4 healthy members.The potential variant of the proband's father Ⅲ-5 were screened by whole exome sequencing (WES) and stepwise bioinformatic analysis.The segregation and mutation conformation of the variant was verified by Sanger sequencing.The pathogenicity of the variant was predicted by SIFT, Polyphen2, and MutationTaster.Conservation and three-dimensional structure of amino acid mutation were analyzed by multiple sequence alignment and UniProt.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Joint Shantou International Eye Center (No.EC20110310[2]-P02).Written informed consent was obtained from each subject or the guardian.Results:An autosomal dominant inherence in 39 members of 4 generations including 15 patients and 24 phenotypically normal members was found in the family.The proband (Ⅳ-4) showed high myopia, retinal detachment and strabismus in the right eye, and the left eye was blind.A patient (Ⅲ-5) showed high myopia and cataract in the right eye, atrophy in the left eye.A patient (Ⅳ-9) showed binocular high myopia.A heterozygous variation, c.1693C>T: p.Arg565Cys, within the exon 26 of COL2A1 gene was revealed in patient Ⅲ-5, which was only found in the patients and not in phenotypically normal members, indiacating co-separation in this family.The variant was predicted to be a severe damage by SIFT, Polyphen2 and MutationTaster.The amino acid mutation at position 565 was highly conservative among human, mouse, rat, bovine and Xenopus laevis, which caused the arginine to cysteine substitution at the X position in triple helix repeat region Gly-X-Y, affecting the function of fibrous protein and becoming pathogenic. Conclusions:Variant c.1693C>T: p.Arg565Cys in COL2A1 gene is disease-causing in this family and this is the first report about the variant in China.
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Objective:To investigate the status of professional cognition of the vocational medical students and educate the professional values for the vocational medical students. Method:A questionnaire survey was conducted among 360 vocational medical students. SPSS 16. 0 was used to analyze the data in the present study. Result:Vo-cational medical students have career pursuit and understand profession basic requirements. The students have pragmatic attitude, however, they have unobvious continued willingness to invest and haven 't form clear integral professional cognition. Conclusion: Professional values of the vocational medical students can be cultivate by strengthening ideal and belief, humanities accomplishment, medical professionalism, professional ideological edu-cation, internship and social practice.
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Objective To obtain the normal ranges of different parameters in static posturography.Methods Different parameters' values of 117 normal persons (10～19 years old) were detected by static posturography while they were in opening and closing eyes situations. Results The mean values of different parameters in opening eyes situation are significantly lower that in closing eyes situation(P＜0.01). The values from the male and the female demonstrate no significant difference, values from 10～19 years old group and 70～79 years old group are significantly higher than from 20～69 years old group(P＜0.01). Conclusion The static posturography is a perfect measure to analyze and evaluate the balance ability of human body in exact quantification, and could be one of the routine clinic tests, supplying quantificational, intellective and facile method for diagnosis and evaluation of dizziness and balance ability.