Objective To screen the MYBPC3 gene mutations in Han Chinese patients with hypertrophic cardiomyopathy ( HCM ). Methods Sixty-six patients with HCM were enrolled for the study. The exons in the functional regions of MYBPC3 were amplified with PCR and the products were sequenced. Results Four novel mutations and four common polymorphisms were identified in this patient cohort. A Lys301fs mutation in exon10 was evidenced in a H30, and when he was 47 years old, he had the chest tightness, shortness of breath with septal hypertrophy of 18. 7mm; a Asp463stop mutation in exonl7 was detected in a H48, he was 24 years old 24-year-old when a medical examination showed ventricular septal hypertrophy of 15.4 mm; both Gly523Arg mutation in exonl8 and Tyr847His mutation in exon26 were found in a H53 with onset age 36 years old, feeling chest tightness after excise and his ventricular septal hypertrophy was 27 mm that time. MYBPC3 mutatons occurred in 4. 5% patients in this cohort. These mutations were not found in 100 non-HCM control patients. Conclusion MYBPC3 mutation is presented in a small portion of Han Chinese patients with HCM.

Objective To study the clinical and laboratory features of the mild and severe hand-foot-mouth diseases (HFMD) in Shenzhen in 2008.Methods 145 cases were observed in East-Lake Hospital and Shenzhen Children's Hospital. Of the 145 cases,124 mild eases and 21 severe cases were involved. All the clinical data and Laboratory findings were collected and summarized. After collection of the acute and convalescent consecutive stools and peripheral bloods from the patients with HFMD,EV71 genes were amplified from these samples by RT-PCR. Enterovirus 71 were cultured and isolated using Veto cell line and R&D cell line. Results The WBC counts and blood glucose levels of the severe cases were significantly elevated,but the ages of the severe ones significantly decreased compared with those of the mild cases( P < 0.05). EV71 genes could be detected by RT-PCR with 35% positive rate in mild cases and 67% in severe eases.The EV71 gene detection rate of the severe cases was significantly increased in contrast to that of the mild ones. The EV71 were isolated and cultured from the stools of 9 patients,one specimens from the dead's stool. Two severe cases died of neurngenic pulmonary edema and brain-stem encephalitis. Conclusions EV71 mainly contributes to HFMD and is responsible for death of some severe cases. High fever,less rash,elevated white blood cell counts and blood glucose concentrations as well as age less than 4 years old should be used for prediction of severe cases.