Objectives The objective of this study was to evaluate the role of genetic screening in a Chinese woman of childbearing age with hypertrophic cardiomyopathy.Methods and Results One 39 year-old woman with presyncope fo...Objectives The objective of this study was to evaluate the role of genetic screening in a Chinese woman of childbearing age with hypertrophic cardiomyopathy.Methods and Results One 39 year-old woman with presyncope for 10 years was admitted.Both of her father and her son died of sudden death and she strongly desire to get another baby. A series of clinical and laboratory studies were performed. Hypertrophic cardiomyopathy was diagnosed finally and implantable Cardioverter Defibrillator was implanted to prevent sudden cardiac death for her.Genomic DNA was isolated and the most common causal genes for hypertrophic cardiomyopathy were screened.A known pathogenetic heterozygous mutation c.700 g】a(p.Argl86Gln) in TNNI3 was found,which was not found in 100 normal control individuals matched for age,sex and geographical region.Because 50%probability of the pathogenetic mutation is inherited to the offsprings,she will get a healthy baby in vitro fertilization which the egg comes from a healthy female donor to prevent from the inherited HCM.Conclusions We found a pathogenetic TNNI3 mutation in a Chinese woman of childbearing age with hypertrophic cardiomyopathy.The genetic screening definite DNA-based diagnosis and help to design a healthy fertilization in vitro for female with hypertrophic cardiomyopathy.展开更多
GUANGDONG Province is the cradle for China’s modern aviation. Many pilots come from there. As early as 1912, Feng Ru, a native of Enping, Guangdong and the originator of Chinese aviation, performed in his handmade ai...GUANGDONG Province is the cradle for China’s modern aviation. Many pilots come from there. As early as 1912, Feng Ru, a native of Enping, Guangdong and the originator of Chinese aviation, performed in his handmade aircraft in Yantang, Guangzhou. Unfortunately,展开更多
He became known all over China because of his appearance on the national television competition "Foreigners Singing Chinese Songs."Dressed in traditional Chinese costume and accompanied by his Chinese wife,h...He became known all over China because of his appearance on the national television competition "Foreigners Singing Chinese Songs."Dressed in traditional Chinese costume and accompanied by his Chinese wife,he Chinese Girl."In this article,Stephen Sayers tells about his marriage and his personal feelings during his five years in China,Stephen and his wife Candy just moved to Macao in July.In arecent letter he asked the editor to give the money for this article to the education-aiding"Hope project" and specified it for Guizhou.展开更多
文摘Objectives The objective of this study was to evaluate the role of genetic screening in a Chinese woman of childbearing age with hypertrophic cardiomyopathy.Methods and Results One 39 year-old woman with presyncope for 10 years was admitted.Both of her father and her son died of sudden death and she strongly desire to get another baby. A series of clinical and laboratory studies were performed. Hypertrophic cardiomyopathy was diagnosed finally and implantable Cardioverter Defibrillator was implanted to prevent sudden cardiac death for her.Genomic DNA was isolated and the most common causal genes for hypertrophic cardiomyopathy were screened.A known pathogenetic heterozygous mutation c.700 g】a(p.Argl86Gln) in TNNI3 was found,which was not found in 100 normal control individuals matched for age,sex and geographical region.Because 50%probability of the pathogenetic mutation is inherited to the offsprings,she will get a healthy baby in vitro fertilization which the egg comes from a healthy female donor to prevent from the inherited HCM.Conclusions We found a pathogenetic TNNI3 mutation in a Chinese woman of childbearing age with hypertrophic cardiomyopathy.The genetic screening definite DNA-based diagnosis and help to design a healthy fertilization in vitro for female with hypertrophic cardiomyopathy.
文摘GUANGDONG Province is the cradle for China’s modern aviation. Many pilots come from there. As early as 1912, Feng Ru, a native of Enping, Guangdong and the originator of Chinese aviation, performed in his handmade aircraft in Yantang, Guangzhou. Unfortunately,
文摘He became known all over China because of his appearance on the national television competition "Foreigners Singing Chinese Songs."Dressed in traditional Chinese costume and accompanied by his Chinese wife,he Chinese Girl."In this article,Stephen Sayers tells about his marriage and his personal feelings during his five years in China,Stephen and his wife Candy just moved to Macao in July.In arecent letter he asked the editor to give the money for this article to the education-aiding"Hope project" and specified it for Guizhou.
