Genetic Analysis of Cardiacβ Myosin Heavy Chain(MHC)Gene in Seven Families with Hypertrophic Cardiomyopathy in Japan

The purpose of this study was to identify the presence of either mutation or polymorphism in the cardiac β myosin heavy chain (MHC) gene of the Japanese who had familial hypertrophic cardiomyopathy (FHCM). We analyzed exons 3-25 of the cardiac MHC gene in seven unrelated Japanese families (17 affected and 10 unaffected individual with HCM), using the polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. Our study showed that affected members of one family (proband; I.I.) had an identical pattern of aberrantly migrating band of exon 21.Similarly we found polymorphism and probable point mutation located on exon 3 of one patient with sporadic HCM (Pt;T.M.). Both proband;I. I. and Pt; T.M., developed lethal congestive heart failure with left ventricular (LV) dilatation as confirmed by autopsy. This suggest that PCR-SSCP analysis is an useful tool for clinical screening of HCM

Surgical Treatment of Acquired Tricuspid Regurgitation with Carpentier\u27s Ring

Between 1976 and 1982, nine patients underwent tricuspid annuloplasty with use of CARPENTIER\u27s ring for acquired tricuspid regurgitation associated with mitral valvular diseases or ruptured aneurysm of the sinus VALSALVA. Of these, one patient died of low cardiac output and respiratory failure. Postoperative cardiac functions were evaluated on remaining eight patients by physical examinations, findings of roentgenogram and contrast echogram. No postoperative regurgitation of the tricuspid valve was detected by contrast echogram in any of the five patients who received this examination after operation. In six of the eight patients, postoperative physical activity improved to grade I of the classification of NYHA, whereas the improvement was limited to grade II in two other patients in whom some forms of the left side cardiac lesions (e. g. mitral regurgitation) still seemed to remain

Receptor Autoradiographic Analysis of Muscarinic Receptors in the Rat Atrioventricular Node

We carried out investigations on muscarinic acetylcholine receptors (m-AChR) in the rat heart, including the atrioventricular (AV) node. The related tissue sections were incubated with 3H-quinuclidinyl benzilate (3H-QNB), then autoradiography and an image analysis coupled with computer-assisted microdensitometry were done. A single type of specific and high affinity binding sites of 3H-QNB was found to be highly concentrated in the AV node, the maximum binding capacity (Bmax) being 1.4 pmol/mg protein and with a dissociation constant (Kd) of 0.5 nM. The density and affinity of the binding to the AV node were the highest, when compared with findings in the atrium (interatrial septum) and ventricle (interventricular septum). The binding was competitively displaced by AF-DX 116, a selective antagonist for the M2 AChR subtype, with a high affinity, whereas pirenzepine, an antagonist for the M1 AChR subtype was much less potent in displacing the binding. Therefore, vagal-cholinergic stimulation presumably plays a significant role in functions of the rat AV node, probably by interacting with the specific, high affinity M2 AChR subtype

Genetic Analysis of Cardiacβ Myosin Heavy Chain(MHC)Gene in Seven Families with Hypertrophic Cardiomyopathy in Japan

The purpose of this study was to identify the presence of either mutation or polymorphism in the cardiac β myosin heavy chain (MHC) gene of the Japanese who had familial hypertrophic cardiomyopathy (FHCM). We analyzed exons 3-25 of the cardiac MHC gene in seven unrelated Japanese families (17 affected and 10 unaffected individual with HCM), using the polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. Our study showed that affected members of one family (proband; I.I.) had an identical pattern of aberrantly migrating band of exon 21.Similarly we found polymorphism and probable point mutation located on exon 3 of one patient with sporadic HCM (Pt;T.M.). Both proband;I. I. and Pt; T.M., developed lethal congestive heart failure with left ventricular (LV) dilatation as confirmed by autopsy. This suggest that PCR-SSCP analysis is an useful tool for clinical screening of HCM

Application of the Dynamical Network Biomarker Theory to Raman Spectra

The dynamical network biomarker (DNB) theory detects the early warning signals of state transitions utilizing fluctuations in and correlations between variables in complex systems. Although the DNB theory has been applied to gene expression in several diseases, destructive testing by microarrays is a critical issue. Therefore, other biological information obtained by non-destructive testing is desirable; one such piece of information is Raman spectra measured by Raman spectroscopy. Raman spectroscopy is a powerful tool in life sciences and many other fields that enable the label-free non-invasive imaging of live cells and tissues along with detailed molecular fingerprints. Naïve and activated T cells have recently been successfully distinguished from each other using Raman spectroscopy without labeling. In the present study, we applied the DNB theory to Raman spectra of T cell activation as a model case. The dataset consisted of Raman spectra of the T cell activation process observed at 0 (naïve T cells), 2, 6, 12, 24 and 48 h (fully activated T cells). In the DNB analysis, the F-test and hierarchical clustering were used to detect the transition state and identify DNB Raman shifts. We successfully detected the transition state at 6 h and related DNB Raman shifts during the T cell activation process. The present results suggest novel applications of the DNB theory to Raman spectra ranging from fundamental research on cellular mechanisms to clinical examinations