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排序方式: 共有113条查询结果,搜索用时 31 毫秒
1.
Tom Rossenbacker MD Sheila J. Carroll MD Huajun Liu MD Cuno Kuipri Thomy J.L. de Ravel FCP Koen Devriendt MD PhD Peter Carmeliet MD PhD Robert S. Kass PhD Hein Heidbüchel MD PhD 《Heart rhythm》2004,1(5):611-615
OBJECTIVES: The purpose of this study was to determine the clinical and biophysical characteristics of a novel SCN5A mutation. BACKGROUND: Brugada syndrome and isolated cardiac conduction defect have been linked to SCN5A mutations. METHODS: Eleven members of a western European family underwent electrophysiologic investigations and mutation analysis of the SCN5A gene. Wild-type and mutant SCN5A channels were expressed in HEK293 cells, and whole cell currents were studied using patch clamp procedures. RESULTS: A novel mutation, R376H, in the first pore segment of SCN5A variably causes Brugada syndrome and/or conduction disease in a single family. Biophysical analysis demonstrated a significant current reduction for the mutant, a pathophysiologic profile consistent with Brugada syndrome and isolated cardiac conduction defect. Among 11 family members, 9 were carriers of the mutation. The proband's initial presentation was a saddleback Brugada ECG, atrial flutter, and diffuse conduction disturbances. He had no inducible ventricular arrhythmias but experienced sudden cardiac death. His brother was affected by atrial flutter and had a clear conduction disorder, but he did not display baseline or evocable ECG signs of Brugada syndrome. He received an implantable cardioverter-defibrillator that delivered one appropriate shock after 1 year of follow-up. The phenotype in the family members was highly variable and ranged from noninducible and inducible asymptomatic carriers of the mutations to isolated conduction disease and to symptomatic Brugada syndrome. CONCLUSIONS: We describe the functional characterization of a novel SCN5A pore mutation, R376H, with variable clinical expression in the same family. Differentiating between electrophysiologic entities (Brugada syndrome-isolated cardiac conduction defect) is more challenging. Recognition of factors modifying the clinical presentation may be important for clinical decision making. 相似文献
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Dr. G. O. Barbezat MD FCP F. S. B. Bowey MB ChB E.R. Kaplan PhD R. Hickman ChM MD 《Digestive diseases and sciences》1978,23(3):222-224
In dogs with gastric fistulae and Heidenhain pouches, inhibition of histamine-stimulated gastric acid secretion by the histamine H2-receptor antagonist metiamide is not increased by the addition of a histamine H1-receptor antagonist (mepyramine maleate). Under the conditions of this study there is no evidence for the presence of histamine H1-receptor sites on the gastric parietal cell.Financial assistance was provided by the South African Medical Research Council. 相似文献
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Robert Forman FCP FACC Brian G. Firth MRCP DPHIL Marius S. Barnard MCH 《The American journal of cardiology》1980,45(6):1120-1125
After aortic valve replacement, depressed left ventricular function, as assessed from the preoperative left ventricular ejection fraction, has been reported to improve significantly in patients with aortic stenosis, but to improve little or to a lesser degree In patients with aortic regurgitation. Accordingly, the effect of preoperative left ventricular ejection fraction and other variables on postoperative survival was examined in 229 patients after aortic valve replacement. The preoperative left ventricular ejection fraction, cardiac index and left ventricular end-diastolic pressure were found not to affect the 3 year postoperative survival rate in patients with aortic stenosis and mixed aortic valve disease. However, patients with aortic regurgitation and a left ventricular ejection fraction of less than 0.50 had a significantly poorer 3 year survival rate (64 ± 10 percent) than patients with aortic regurgitation and an ejection fraction of 0.50 or more (91 ± 8 percent) (p <0.02). The 3 year postoperative survival rate in patients with a reduced cardiac index (less than 2.5 liters/min per m2) and aortic regurgitation was also significantly lower (63 ± 10 percent) than the rate in patients with aortic regurgitation and a normal cardiac index (p <0.02). There was less significance in the difference between the 3 year postoperative survival rate of patients with aortic regurgitation whose left ventricular end-diastolic pressure was 15 mm Hg or less and those whose pressure was greater than 15 mm Hg (p <0.05). Thus, it may be advisable to monitor left ventricular ejection fraction noninvasively in patients with aortic regurgitation and to advise aortic valve replacement before the ejection fraction becomes severely depressed. 相似文献
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Analysis of surgical versus medical therapy in active complicated native valve infective endocarditis 总被引:5,自引:0,他引:5
Charles H. Croft MB ChB FCP Wayne Woodward PhD Alan Elliott MAS Patrick J. Commerford MB ChB FCP Christiaan N. Barnard MD PhD Walter Beck MSc MMed FRCP 《The American journal of cardiology》1983,51(10):1650-1655
From 1972 to 1980, 23 patients (Group A) with native valve infective endocarditis underwent surgical intervention, often for multiple indications, during the active stage of the infective process because of progressive class III and IV (New York Heart Association) heart failure (12 patients), persistent severe hypotension (3 patients), uncontrolled infection for over 21 days (11 patients), aortic root abscess (2 patients), and pericarditis (1 patient). Eighty-five patients (Group B) with active native valve endocarditis, matched for severity of illness, were treated medically. Two patients (9%) in Group A and 43 patients (51%) in Group B died during the hospital admission (p < 0.001). Any difference in long-term cumulative survival rate between the 2 groups was largely due to the beneficial impact of surgical management on the hospital mortality. Of 23 patients in Group A, 11 (48%) had an entirely uncomplicated postoperative course. Long-term mortality rates in those with aortic valve endocarditis treated medically (79%) were significantly higher than in those with mitral valve involvement (47%) (p < 0.05). Patients with aortic valve involvement treated surgically had a better hospital (p < 0.005) and long-term (p < 0.005) survival rate than those treated medically. Two groups at risk for postoperative complications were identified; 3 of 11 patients (27%) with uncontrolled infection had an early postoperative recurrence, and 4 of 7 patients (57%) with an aortic root abscess had postoperative prosthetic paravalvular regurgitation.
Surgery therefore effects a substantial reduction in hospital mortality in patients with complicated active infective endocarditis (9% versus 51%), but patients with preoperative prolonged periods of uncontrolled infection or with aortic root abscess are liable to postoperative complications. 相似文献
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Chu-Pak Lau MD Moses S. S. Chow PharmD FCP Hung-Fat Tse MD Man-Oi Tang MB Chengda Fan MB 《The American journal of cardiology》2000,86(12)
The frequent recurrence of paroxysmal atrial fibrillation (PAF) despite the use of standard antiarrhythmic agents prompted the use of new therapeutic approaches. There are few data on systematic assessment of PAF control with stepwise dose escalation and the use of a drug combination. Low-dose quinidine may promote the efficacy of propafenone by inhibiting its degradation through the cytochrome P450 pathway (CYP2D6). We prescribed propafenone 300 to 450 mg/day to 60 patients with PAF for 8 weeks, and 62% were symptomatically controlled. The 19 refractory patients were randomized in a double-blinded fashion to receive either a higher dose of propafenone (450 to 675 mg/day) or the standard dose of propafenone with low-dose quinidine 150 mg/day, each for an 8-week study period, and subsequently crossed over to the alternative treatment. The resulting serum propafenone concentrations were 259 ± 208 and 336 ± 237 mg/day (p >0.5), respectively. Both treatment arms prolonged the time to the first symptomatic atrial fibrillation (AF) recurrence and the interval between attacks, and AF was controlled in 37% of patients. However, the higher dose of propafenone was associated with gastrointestinal side effects not present with the low-dose quinidine combination. Of the 10 refractory patients, 7 were further controlled with a standard dose of propafenone plus quinidine (600 mg/day). Overall, control of PAF was achieved in 85% of patients at the end of 8 months; adverse effects necessitating withdrawal were observed in 6%, and uncontrolled AF in 5% of patients. There was no difference in the mean AF rate during recurrences in all phases, and ventricular proarrhythmia was not seen. This study documents the role of stepwise antiarrhythmic treatment of PAF. The use of a standard dose of propafenone, followed by low-dose quinidine combination to reduce propafenone degradation, and the combined standard dose of propafenone and quinidine may be used to maximize efficacy and tolerability. 相似文献
9.
Jonathan Carr FCP 《Movement disorders》2009,24(9):1407-1407
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