Screening of pathogenic genes in a Chinese familial dilated cardiomyopathy pedigree from Inner Mongolia / 中华心血管病杂志

Objective@#Screen the pathogenic genes of a pedigree with clinical manifestation of familial dilated cardiomyopathy in Inner Mongolia.@*Methods@#A total of 3 patients with dilated cardiomyopathy and 20 family members from the same family were examined in Ordos Central Hospital in Inner Mongolia from October, 2003 to August, 2017. Data on medical history, physical examinations, electrocardiograms, and echocardiography were obtained. 5 ml peripheral blood was sampled for per person. Chip Capture Sequencing technology was used to capture all the exons and splice sites of the genes that associated with hereditary cardiomyopathy and hereditary arrhythmia. The mutations in these genes were detected by high-throughput sequencing. All suspected pathogenic loci identified by high-throughput sequencing were verified by Sanger sequencing used for mutation detection. One hundred and fifty gender, age and race matched healthy people were included as the control group.@*Results@#Pathogenic gene variations were detected in 3 symptomatic family members and 1 carrier from the pedigree. Five pathogenic gene variations were identified in the proband (Ⅱ1), a pSer236Gly and a pArg215Cys variation in the MYBPC3 gene, a pGln90Arg variation in the DSP gene, and pAsn2912Asp and pGlu2910Val variation in the DMD gene. One pathogenic variation was detected in Ⅲ3, which was a pArg215Cys variation in the MYBPC3 gene. Two pathogenic variations were detected in Ⅲ7, a pSer236Gly variation in the MYBPC3 gene and a pGln90Arg variation in the DSP gene. Two pathogenic variations were detected in the Ⅳ7, a pSer236Gly variation in the MYBPC3 gene and a pGln90Arg variation in the DSP gene. No gene variation loci were detected in the other family members and the control group.@*Conclusion@#MYBPC3 gene, DSP gene and DMD gene variations are present in the familial dilated cardiomyopathy pedigree from Inner Mongolia, and these variations may be related with familial dilated cardiomyopathy.

Impact of Exercise Rehabilitation on Cardiac Function in Coronary Artery Disease Patients After Percutaneous Coronary Intervention / 中国循环杂志

Objective: To explore the impact of exercise rehabilitation on cardiac function in coronary artery disease (CAD) patients after percutaneous coronary intervention (PCI). Methods: A total of 130 CAD patients received primary PCI in our hospital from 2014-01 to 2015-09 were enrolled. All patients received conventional drug therapy and post-PCI knowledge education, then were randomly divided into 2 groups: Conventional group and Rehabilitation group, in which the patients received cardiac rehabilitation exercise for 3 months at different stage and intensity. n=65 in each group. The cardiac function including left ventricular ejection fraction (LVEF), left ventricular end-diastolic diameter (LVEDD), 6 min walking distance (6MWD) and NYHA classification were compared between 2 groups at 1, 3 and 6 months after the operation. Results: LVEF, LVEDD, 6MWD and NYHA classification were similar between 2 groups at enrollment, P>0.05. ① At 1 month post-operation: 6MWD was different between 2 groups, P0.05. In Rehabilitation group, 6MWD and NYHA classification were different from the enrollment condition, P0.05; in Conventional group, 6MWD was different from the enrollment condition, P0.05. ② At 3 and 6 months post-operation: all parameters were different between 2 groups, P>0.05. In Rehabilitation group, all parameters were different from the enrollment condition, P<0.05. ③ In Conventional group, at 3 months post-operation: LVEDD and 6MWD were different from the enrollment condition, P<0.05; at 6 months post-operation: 6MWD was different from the enrollment condition, P<0.05. Conclusion: Exercise rehabilitation may improve the cardiac function, therefore enhance the endurance capacity and quality of life in CAD patients after PCI.

Influence of moderate exercise training to patients with heart failure′s related factors / 中国综合临床

Objective Heart failure is due to a variety of reasons cause of the heart to lose their official duty. The heart will not be able to work properly to meet the needs of the body, it is called pump failure. It significantly reduces the patients living ability and quality of life. Appropriate exercise training as an adjuvant therapy of heart failure can make these conditions have been improved. The present study reviewed the influence of moderate exercise training to patients with heart failure′s related factors( e. g. cardiac function,quality of life, medical expenses,etc) .

Impact of anti-hypertension therapy on seasonal variability of blood pressure, urinary 8-OHdG levels in essential hypertension / 中国综合临床

Objective To investigate anti-hypertension threapy on seasonal variability of blood pressure,urinary 8-OHdG levels in essential hypertension in order to provide a basis for seasonal antihypertensive treatment.Methods Fifty hypertensive patients admitted the hospital of Erdos Clinical Medical College of Inner Mongolia Medical University at summer 2013 were selected as our subjects.The final subjects was 42 cases due to 8 lost cases.The patients were randomly divided into two groups,including 30 cases in renin angiotensin aldosterone system inhibitors(RASI) group and 12 cases in Ca2+ channel blocker(CCB) group.Epidata 3.1 software was applied to perform statistic analysis.Urinary 8-OHdG concentration was measured by enzyme-linked immunosorbent assay (ELISA).Blood pressure was measured in spring,summer,autumn and winter.Results Systolic blood pressure(SBP) in RASI group and CCB group at winter periods were (158±20) mmHg,(158 ± 20) mmHg,higher than that in summer periods ((145 ± 12) mmHg,(141 ± 9) mmHg;P＜ 0.05).Diastolic blood pressure(DPB) in RASI group and CCB group at winter periods were (101 ± 13)mmHg and (100±4)mmHg,significant high than that in summer periods ((93 ±7) mmHg,(90±7) mmHg;P＜0.05).8-OhdG levels in RASI group at summer and autumn periods were (243.20±30.94) ng/L and (240.40±47.99) ng/L,significantly higher than that in winter and spring periods((190.80± 15.56) ng/L and (189.06± 13.56) ng/L),and the differences were significant(P＜0.001).No significant differences were seen in CCB group among 4 seasons in terms of 8-OhdG levels (P ＞ 0.05).Conclusion Blood pressure change still occur among 4 seasons in hypertensive patients after a single CCB containing RASI-based drug antihypertensive therapy.And blood pressure in winter periods is higher than that in summer,which indicates that therapy medication based on RASI might reduce the level of oxidative stress at winter periods.