Previous studies demonstrated that impaired relaxation develops b

Previous studies demonstrated that impaired relaxation develops before left ventricular hypertrophy (LVH). The precise impact of sarcomere mutations on systolic function in early and late disease is unclear.

Methods and Results-Comprehensive echocardiography with strain imaging was performed

on 146 genotyped individuals with mutations in 5 sarcomere genes. Contractile parameters were compared in 68 preclinical (G+/LVH-), 40 overt (G+/LVH+) subjects with HCM, and 38 mutation (-) normal control relatives. All subjects had normal left ventricular ejection fraction. In preclinical HCM, global and regional peak systolic strain (epsilon(sys)) and longitudinal systolic strain rate were not significantly different from controls, but early diastolic mitral annular velocity (Ea) was reduced by 13%. In overt HCM, Dinaciclib in vivo there was a significant 27% and

14% decrease in global longitudinal epsilon(sys) and systolic strain rate, respectively, compared with both preclinical HCM and controls (P < 0.013 for all comparisons), and a 33% reduction in Ea.

Conclusions-Sarcomere mutations have disparate initial effects on diastolic and systolic functions. Preclinical HCM is characterized by impaired relaxation but preserved systolic strain. In contrast, both diastolic and longitudinal systolic abnormalities are present in overt disease despite normal ejection fraction. We propose that diastolic dysfunction is an early consequence of sarcomere mutations, whereas systolic dysfunction results from mutations combined with subsequent pathological remodeling. Identifying mechanistic pathways triggered by these mutations may begin Vorinostat in vitro to reshape the clinical paradigm for treatment, based on early diagnosis and disease prevention. (Circ Cardiovasc Genet. 2009; 2: 314-321.)”
“Background: There have been several attempts to systematically assess

performance in bronchoscopy. Earlier validation studies have used bronchoscopy simulators, not real-life performance in patients. Objectives: The aim of this study was to explore the reliability and validity of an assessment tool aimed for the use in a clinical setting. Methods: Five junior residents, 5 senior residents and 9 consultants performed 3 bronchoscopies each. All 57 bronchoscopies were video-recorded and assessed blindly and independently by two bronchoscopy experts using the new assessment tool. Results: The interrater reliability was high, with Cronbach’s alpha = 0.86. Assessment of 3 bronchoscopies by a single rater had a generalizability coefficient of 0.84. The correlation between experience and performance was good (Pearson correlation = 0.76). There were significant differences between the groups for all aspects of the assessment, but post hoc tests showed different discriminative abilities.

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