Chinese medical journal
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Chinese medical journal · Oct 2011
A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.
The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family. ⋯ This study provided new information about a novel mutation, p.I151S, in the TYR gene in a Chinese family with OCA1. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity.
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Chinese medical journal · Oct 2011
Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.
Multiple osteochondromas (MO), an inherited autosomal dominant disorder, is characterized by the presence of multiple exostoses on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes which encode glycosyltransferases implicated in heparin sulfate biosynthesis. ⋯ Mutation analysis of two MO families in this study demonstrates its further application in MO genetic counseling and prenatal diagnosis.
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Chinese medical journal · Oct 2011
ReviewTranslational research and its effects on medicine in China.
Translational research has become a globally recognized model of medical research. Chinese government and doctors have begun to discuss the plan for its development. ⋯ In this essay, the authors discuss the disadvantages of translational research, its effects on clinical work and medical education, highlighting some potential problems and risks in theory and practice on case basis. Some important research management requirements are summarized in this essay to help bring the therapy from the research laboratory to the patient's bedside.
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Chinese medical journal · Oct 2011
Multicenter StudyReal world clinical performance of the zotarolimus eluting coronary stent system in Chinese patients: a prospective, multicenter registry study.
Early clinical trials with the Endeavor zotarolimus eluting stent (ZES) in western populations demonstrated low rates of target lesion revascularization with a favorable safety profile including low late stent thrombosis with up to 5 years of follow-up. The aim of this clinical registry study was to evaluate real world clinical performance of the ZES coronary system in Chinese patients. ⋯ Mid-term results from the real-world China Endeavor Registry suggest that Endeavor ZES was safe and effective in Chinese patients.