Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The present study comprised 29 adolescents and young adults (15 females, 14 males; aged 14.1-23.9 years) with congenital heart disease (CHD) and focused on the interaction between the biomechanical system and CHD. Individuals were characterized by auxological (height, weight), dynamometric (MIGF, maximal isometric grip force) and mechanograpic parameters (Vmax, maximal velocity; PJF, peak jump force; PJP, peak jump power; time of five stand-ups in chair-rising test). PJF, PJP and MIGF were transformed into height-related SD-scores. MIGF-SDS and PJP-SDS were lower in the CHD patients than in reference individuals. PJP-SDS was lower than PJF-SDS. PJP-SDS was correlated to Vmax (r = 0.62) and to the time of five-stand-ups in chair-rising (r = -0.62). Transcutaneous oxygen saturation and NYHA classes were correlated to Vmax (r = 0.42 and r = -0.57, respectively) and to chair-rising performance (r = -0.60 and r = 0.50, respectively). To conclude, individuals with CHD are characterized by an impaired inter- and intramuscular coordination, which is characterized by a greater decrease in muscular power than muscle force.
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PMID:Mechanographic characteristics of adolescents and young adults with congenital heart disease. 1751 86

Mitochondria are complex organelles that play critical roles in diverse aspects of cellular function. Heart disease and a number of other pathologies are associated with perturbations in the molecular machinery of the mitochondria. Therefore, comprehensive, unbiased examination of the mitochondrial proteome represents a powerful approach toward system-level insights into disease mechanisms. A crucial aspect in proteomics studies is design of bioanalytical strategies that maximize coverage of the complex repertoire of mitochondrial proteins. In this study, we evaluated the performance of gel-based and gel-free multidimensional platforms for profiling of the proteome in subsarcolemmal mitochondria harvested from rat heart. We compared three different multidimensional proteome fractionation platforms: polymeric reversed-phase liquid chromatography at high pH (PLRP), sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), and isoelectric focusing (IEF) separations combined with liquid chromatography-mass spectrometry/mass spectrometry (LC-MS/MS), and bioinformatics for protein identification. Across all three platforms, a total of 1043 proteins were identified. Among the three bioanalytical strategies, SDS-PAGE followed by LC-MS/MS provided the best coverage of the mitochondrial proteome. With this platform, 890 proteins with diverse physicochemical characteristics were identified; the mitochondrial protein panel encompassed proteins with various functional roles including bioenergetics, protein import, and mitochondrial fusion. Taken together, results of this study provide a large-scale view of the proteome in subsarcolemmal mitochondria from the rat heart, and aid in the selection of optimal bioanalytical platforms for differential protein expression profiling of mitochondria in health and disease.
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PMID:Proteome analysis of subsarcolemmal cardiomyocyte mitochondria: a comparison of different analytical platforms. 2486 90

Haploinsufficiency of the insulin-like growth factor-1 receptor (IGF1R) gene on chromosome 15q26.3 is associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. Terminal deletions of chromosome 15q26 arising more proximally may also be associated with congenital heart disease, epilepsy, diaphragmatic hernia and renal anomalies. We report three additional cases of 15q26 terminal deletions with novel features which may further expand the spectrum of this rarely reported contiguous gene syndrome. Phenotypic features including neonatal lymphedema, aplasia cutis congenita and aortic root dilatation have not been reported previously. Similarly, laboratory features of insulin-like growth factor 1 (IGF-1) resistance are described, including markedly elevated IGF-1 of up to +4.7 SDS. In one patient, the elevated IGF-1 declined over time and this coincided with a period of spontaneous growth acceleration.
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PMID:Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance. 2782 49


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