To observe the effects of salvianolate on cardiomyocytes apoptosis and heart function in a swine model of acute myocardial infarction (AMI).

Objective:To evaluate the relationship between regional coronary flow reserve (CFR) obtained from cadmium-zinc-telluride SPECT(CZT SPECT) myocardial functional perfusion imaging (MFPI) and invasive fractional flow reserve (FFR) measured during coronary angiography (CAG) and its clinical value in guiding coronary interventions.Methods:Forty-two patients (30 males, 12 females, age (63.3±9.8) years) who completed CZT SPECT MFPI in the First Affiliated Hospital of Nanjing Medical University from June 2022 to September 2022 and underwent CAG within 3 months were included retrospectively. The concordance of CFR and FFR for diagnosing myocardial ischemia (CFR<2.0 and FFR<0.8) was calculated at the vascular level. The diagnostic efficacy of coronary stenosis≥70% for decreased myocardial blood flow (CFR<2.0) was calculated. Kappa test was used to analyze the data. Results:A total of 126 major coronary arteries were identified in 42 patients, of which 30(23.8%) had a CFR<2.0 by CZT SPECT and 33(26.2%) had stenosis≥70% in CAG. A total of 32 coronary vessels were performed with MFPI CFR and FFR measurements, of which 6 were both decreased and 21 were both normal, so the concordance rate was 84.4%(27/32)( Kappa=0.612, P<0.001). Among 33 coronary vessels with stenosis≥70%, 13 were with CFR≥2.0. Among 30 coronary vessels with CFR<2.0, 10 were with stenosis<70%. When using stenosis≥70% to diagnose CFR decreasing, the sensitivity was 66.7%(20/30), specificity was 86.5%(83/96), positive predictive value was 60.6%(20/33), negative predictive value was 89.2%(83/93), and accuracy was 81.7%(103/126). Conclusions:The concordance between CFR and FFR for the diagnosis of myocardial ischemia is good. Nearly 1/3 of the coronary arteries with decreased CFR have stenosis<70%, whereas nearly 40% of the coronary arteries with stenosis≥70% are not result in myocardial ischemia. Regional CFR determined by CZT SPECT may have potentially significant clinical value in the diagnosis of coronary artery disease and decision-making of coronary intervention.

Humans ; Cockayne Syndrome/genetics* ; Genetic Association Studies ; Phenotype

Proline-rich transmembrane protein 2 (PRRT2) is the leading cause of paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), and infantile convulsions with choreoathetosis (ICCA). Reduced penetrance of PRRT2 has been observed in previous studies, whereas the exact penetrance has not been evaluated well. The objective of this study was to estimate the penetrance of PRRT2 and determine its influencing factors. We screened 222 PKD index patients and their available relatives, identified 39 families with pathogenic or likely pathogenic (P/LP) PRRT2 variants via Sanger sequencing, and obtained 184 PKD/BFIE/ICCA families with P/LP PRRT2 variants from the literature. Penetrance was estimated as the proportion of affected variant carriers. PRRT2 penetrance estimate was 77.6% (95% confidence interval (CI) 74.5%-80.7%) in relatives and 74.5% (95% CI 70.2%-78.8%) in obligate carriers. In addition, we first observed that penetrance was higher in truncated than in non-truncated variants (75.8% versus 50.0%, P = 0.01), higher in Asian than in Caucasian carriers (81.5% versus 68.5%, P = 0.004), and exhibited no difference in gender or parental transmission. Our results are meaningful for genetic counseling, implying that approximately three-quarters of PRRT2 variant carriers will develop PRRT2-related disorders, with patients from Asia or carrying truncated variants at a higher risk.
Dystonia ; Epilepsy, Benign Neonatal/genetics* ; Humans ; Membrane Proteins/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Pedigree ; Penetrance ; Seizures/genetics*