10 research outputs found
965-48 Ejection Fraction and Wall Thickness Correlate with Impaired Energy Metabolism in Patients with Dilated Cardiomyopathy
Using 31P-MR spectroscopy, abnormalities of cardiac energy metabolism have been demonstrated in patients with dilated cardiomyopathy (DCM). However. a detailed analysis of the correlations among energy metabolism, cardiac hemodynamics and myocardial hypertrophy obtained from 31P-MR, right and left heart catheterization and echocardiography has not been presented, 23 patients with DCM (left ventricular (LV) EF 34±3%; NYHA class 2.7±0.1; SE) underwent right and left heart catheterization and echocardiography±3 days before/after MR spectroscopy. Coronary artery disease was ruled out by coronary angiography. ECG-triggered. localized 31 P-MR spectra from the anteroseptal myocardium were acquired at rest (prone position) during 30min on a 1.5 T Philips Gyroscan MR system using ISIS localization, adiabatic pulses. and a 15 sec repetition time. Peak areas were corrected for T1 effects and for blood contamination. and were determined with Lorentzian line fits in the time domain. Linear correlations between creatine phosphate (CP)/ATP ratios and hemodynamic parameters were calculated.LV pressures and diameters. cardiac output, stroke volume, pulmonary arterial pressures, right atrial pressure and pulmonary arterial oxygen saturation did not correlate with CP/ATP. Thus, our data demonstrate that in DCM, the extent of high-energy phosphate depletion is related to the extent of mechanical dysfunction as well as to LV wall thickness
Beyond Genes: Re-Identifiability of Proteomic Data and Its Implications for Personalized Medicine
Hematologically Important Mutations: Leukocyte Adhesion Deficiency (First Update)
Leukocyte adhesion deficiency (LAD) is an immunodeficiency caused by defects in the adhesion of leukocytes (especially neutrophils) to the blood vessel wall. As a result, patients with LAD suffer from severe bacterial infections and impaired wound healing, accompanied by neutrophilia. In LAD-I, mutations are found in ITGB2, the gene that encodes the beta subunit of the beta(2) integrins. This syndrome is characterized directly after birth by delayed separation of the umbilical cord. In the rare LAD-II disease, the fucosylation of selectin ligands is disturbed, caused by mutations in SLC35C1, the gene that encodes a GDP-fucose transporter of the Golgi system. LAD-II patients lack the H and Lewis Le(a) and Le(b) blood group antigens. Finally, in LAD-III (also called LAD-I/variant) the conformational activation of the hematopoietically expressed beta integrins is disturbed, leading to leukocyte and platelet dysfunction. This last syndrome is caused by mutations in FERMT3, encoding the kindlin-3 protein in all blood cells that is involved in the regulation of beta integrin conformation. (C) 2011 Elsevier Inc. All rights reserved.Wo
Association Between Autozygosity and Major Depression: Stratification Due to Religious Assortment
The effects of inbreeding on the health of offspring can be studied by measuring genome-wide autozygosity as the proportion of the genome in runs of homozygosity (