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)

Oxygen tension in the blood and tissues, lipid peroxidation (LP) intensity (content of malonic blood dialdehyde and activity of superoxide dismutase in erythrocytes), spectrum of fatty acids and phospholipid composition of erythrocytic membranes, their passive K(+) permeability, total ATP content in erythrocytes, some other metabolic indices were investigated in 24 patients with blue type congenital heart disease. It was shown that these patients showed a reduced oxygen tension in the blood and tissues, LP intensification, changes of the lipid phase of erythrocytic membranes, disorders of their permeability, decrease of intraerythrocytic ATP reserves. Beta-adrenoblocking agents (obsidan, anaprilin were used in 10 patients. Reported are clinico-metabolic findings indicating a favourable effects of these drugs on LP processes, lipid spectrum of erythrocytic membranes, their permeability and bioenergy reactions.
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PMID:[Lipid peroxidation and erythrocyte membrane function in congenital heart defects in relation to the use of beta-adrenoblockers]. 136 25

Down syndrome (DS) is a major cause of congenital heart and gut disease and mental retardation. DS individuals also have characteristic facies, hands, and dermatoglyphics, in addition to abnormalities of the immune system, an increased risk of leukemia, and an Alzheimer-like dementia. Although their molecular basis is unknown, recent work on patients with DS and partial duplications of chromosome 21 has suggested small chromosomal regions located in band q22 that are likely to contain the genes for some of these features. We now extend these analyses to define molecular markers for the congenital heart disease, the duodenal stenosis, and an "overlap" region for the facial and some of the skeletal features. We report the clinical, cytogenetic, and molecular analysis of two patients. The first is DUP21JS, who carries both a partial duplication of chromosome 21, including the region 21q21.1-q22.13, or proximal q22.2, and DS features including duodenal stenosis. Using quantitative Southern blot dosage analysis and 15 DNA sequences unique to chromosome 21, we have defined the molecular extent of the duplication. This includes the region defined by DNA sequences for APP (amyloid precursor protein), SOD1 (CuZn superoxide dismutase), D21S47, SF57, D21S17, D21S55, D21S3, and D21S15 and excludes the regions defined by DNA sequences for D21S16, D21S46, D21S1, D21S19, BCE I (breast cancer estrogen-inducible gene), D21S39, and D21S44. Using similar techniques, we have also defined the region duplicated in the second case occurring in a family carrying a translocation associated with DS and congenital heart disease. This region includes DNA sequences for D21S55 and D21S3 and excludes DNA sequences for D21S47 and D21S17.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. 153 Nov 66

Tissue oxygen tension, peroxidation of lipids (malonic dialdehyde levels, superoxide dismutase activity), fatty acid, spectrum and phospholipid composition in the red blood cells, Na+, K(+)-ATPase were studied in 11 healthy children and 21 with cyanotic heart disease. The beta-adrenoblocker obsidan was used in the multimodality treatment of 10 patients. Unlike healthy children, the patients had decreased tissue oxygen tension, intensified lipid peroxidation, an altered lipid profile in the red blood cell membranes, their abnormal permeability, diminished intracellular ATP depot. The conventional tools of intensive care (oxygenation, cardiotropic drugs, goal-oriented fluid therapy) are low beneficial. There is evidence for the supplementation of obsidan, a beta-adrenoblocker, to a therapeutical complex for this group of patients. Clinical and metabolic evidence for the positive action of the drug on lipid peroxidation, lipid spectrum in the red blood cell membranes, their permeability and biological energy reactions.
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PMID:[Erythrocyte membranes in patients with congenital cyanotic heart disease before and after obsidan therapy]. 166 48

Dietary fish oil containing the n-3 polyunsaturated fatty acids eicosapentaenoic acid (EPA, 20:5) and docosahexaenoic acid (DHA, 22:6) is being consumed by many individuals in an effort to reduce thrombosis and heart disease. However, little is known about how these fatty acids can affect cerebrovascular function. The purpose of the present study was to begin to examine the effects of these fatty acids on cerebral arteriolar diameter and to compare their effects with that of arachidonic acid (AA). Pial arteriolar diameter responses to the topically applied fatty acids [0.2-200 micrograms/ml cerebrospinal fluid (CSF)] were measured in rabbits using in vivo microscopy and the acute cranial window technique. Prostaglandin E2 (PGE2) formed by the brain in response to AA, EPA, and DHA was measured in CSF using radioimmunoassay. EPA induced a dose-dependent dilation response of which the maximum was 29%, whereas the maximal dilation produced by AA was 100%. The arteriolar effect of EPA was reduced by indomethacin or superoxide dismutase plus catalase, indicating vasoactivity due to oxygen radicals formed by cyclooxygenase metabolism of EPA. DHA itself had no effect on diameter or adenosine-induced dilation but reduced dilation by AA when coapplied with AA. AA induced a 65-fold maximal increase in PGE2, whereas EPA and DHA had comparatively little effect. These results imply that substitution of n-3 fatty acids for AA in brain phospholipids may result in less cyclooxygenase-dependent cerebrovascular reactivity. This alteration in reactivity may produce important effects with respect to the brain's blood flow response to a number of physiological and pathological challenges.
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PMID:Effect of fish oil n-3 fatty acids on cerebral microcirculation. 214 67

Down syndrome (DS) is a major cause of mental retardation and heart disease. Although it is usually caused by the presence of an extra chromosome 21, a subset of the diagnostic features may be caused by the presence of only band 21q22. We now present evidence that significantly narrows the chromosomal region responsible for several of the phenotypic features of DS. We report a molecular and cytogenetic analysis of a three-generation family containing four individuals with clinical DS as manifested by the characteristic facial appearance, endocardial cushion defect, mental retardation, and probably dermatoglyphic changes. Autoradiograms of quantitative Southern blots of DNAs from two affected sisters, their carrier father, and a normal control were analyzed after hybridization with two to six unique DNA sequences regionally mapped on chromosome 21. These include cDNA probes for the genes for CuZn-superoxide dismutase (SOD1) mapping in 21q22.1 and for the amyloid precursor protein (APP) mapping in 21q11.2-21.05, in addition to six probes for single-copy sequences: D21S46 in 21q11.2-21.05, D21S47 and SF57 in 21q22.1-22.3, and D21S39, D21S42, and D21S43 in 21q22.3. All sequences located in 21q22.3 were present in three copies in the affected individuals, whereas those located proximal to this region were present in only two copies. In the carrier father, all DNA sequences were present in only two copies. Cytogenetic analysis of affected individuals employing R and G banding of prometaphase preparations combined with in situ hybridization revealed a translocation of the region from very distal 21q22.1 to 21qter to chromosome 4q. Except for a possible phenotypic contribution from the deletion of chromosome band 4q35, these data provide a molecular definition of the minimal region of chromosome 21 which, when duplicated, generates the facial features, heart defect, a component of the mental retardation, and probably several of the dermatoglyphic changes of DS. This region may include parts of bands 21q22.2 and 21q22.3, but it must exclude the genes S0D1 and APP and most of band 21q22.1, specifically the region defined by S0D1, SF57 and D21S47.
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PMID:Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype. 214 53

Down syndrome (DS) is a major cause of mental retardation and heart disease. Although it is usually caused by the presence of an extra chromosome 21, a subset of the diagnostic features may be caused by the presence of only band q22. Molecular and cytogenetic analysis of a family with 4 DS members has significantly narrowed the chromosomal region responsible for the DS phenotype: congenital heart disease, facial features, and possibly dermatoglyphics. Using high-resolution chromosome banding and in situ hybridization, we found the DS phenotype in the family is caused by a duplication of chromosome 21 material including a region of distal band q22.1 below the limit of cytogenetic resolution, in addition to bands q22.2-q22.3. By quantitative Southern blot analyses of DS members of the family, all random DNA sequences and expressed genes mapping in band q22.1 and proximal are found not to be duplicated. These include cDNA probes for the genes for superoxide dismutase (SOD1) mapping in 21q22.1 and for the amyloid precursor protein (APP) mapping in 21q21.05; D21S46 in 21q11.2-21.05; and D21S47 and SF57 in 21q22.1-q22.3. With one exception, DNA sequences mapping in band q22.3 are duplicated (D21S39, D21SD42, and D21S43). This analysis has now been extended to show that D21S17, previously mapped to band 21q22.3, is not duplicated. In conclusion, the genes SOD1 and APP have been excluded from a necessary role in generating the classical DS features, and the proximal border of the chromosomal region causing DS has been defined.
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PMID:Down syndrome: toward a molecular definition of the phenotype. 214 83

Lipoperoxide changes and the effect of reduced glutathione (GSH) on that were investigated in cardiopulmonary bypass and endotoxin shock states. In human cardiopulmonary bypass, 26 patients with congenital heart disease were studied and the following results were obtained. Serum lipoperoxide concentration in control group increased in 30 and 60 min after bypass. On the other hand, in the reduced glutathione pretreatment group (100 mg/kg), this change was not observed. In both groups, beta-glucuronidase activity had a tendency to increase after bypass, and it had a close correlation between serum lipoperoxide concentration and beta-glucuronidase activity. In endotoxin shock rats, the results were as follows. 3 hours after injection of endotoxin (10 mg/kg), hepatic lipoperoxide concentration increased and superoxide dismutase (SOD) activity decreased, and hepatic Chemiluminescence counts had a tendency to increase. There was no significant change in serum lipoperoxide concentration after 3 hr, but a significant elevation was observed only after 6 hr. In the reduced glutathione pretreatment group (1,000 mg/kg), serum and hepatic lipoperoxide concentration, hepatic SOD activity, and hepatic Chemiluminescence counts were unchanged. These results suggest that lipoperoxide may increase in shock states and GSH administration may be useful to inhibit lipoperoxide formation.
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PMID:[The effect of reduced glutathione on the changes of lipid-peroxide concentration in shock states--clinical and experimental studies]. 399 53

Although much evidence favors the concept that dilated cardiomyopathy could be a postviral disease, the actual prevalence and pathogenesis of viral heart disease in dilated cardiomyopathy has not been well explored, since the diagnosis of viral infection is still difficult. The recently developed polymerase chain reaction (PCR) has made it possible to amplify a few copies of viral genome and has shown that viral genomes persist long after viral infection. The PCR is a promising method for testing possible viral etiology. We have found that antiheart antibodies associated with a murine model of myocarditis increased the intracellular free Ca2+ concentration through the activation of Ca(2+)-permeable cation channels in isolated ventricular cells. Marked induction of Mn-SOD and Cu/Zn-SOD mRNA was found in the heart with viral myocarditis and oxygen radicals may play an important role in the pathogenesis of viral myocarditis. Our recent studies revealed an increase in the circulating cytokines in patients with acute myocarditis and cardiomyopathy and suggested that cytokines play some role in the pathogenesis of myocardial injury in these diseases. In our animal model of EMC virus myocarditis, plasma tumor necrosis factor (TNF)-alpha was elevated in the acute stage and exogenously administered anti TNF-alpha antibody improved the survival and myocardial lesion, suggesting the importance of TNF-alpha in the pathogenesis.
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PMID:[Detection of viral genomes in myocarditis]. 773 17

This study determined if reported decreases in the delta subunit of ATP synthase and nuclear-encoded cytochrome c oxidase subunits in hearts of copper-deficient rats were secondary to the heart disease pathology or due to lack of the trace element. Male weanling Long-Evans rats were randomly divided into six groups: rats fed a copper-adequate or copper-deficient diet (with free access) with or without 5% dimethyl sulfoxide (DMSO) in the drinking water and rats pair-fed the copper-adequate or copper-deficient diet without DMSO treatment. After 4 wk, rats in the groups fed the copper-deficient diet had lower liver superoxide dismutase and heart cytochrome c oxidase activities compared with groups fed the copper-adequate diet. Administration of DMSO, an antioxidant, and energy restriction (pair-feeding) partially blocked cardiac hypertrophy in rats fed the copper-deficient diet. Greater mitochondrial volume density and mitochondrial:myofibrillar ratio and disrupted myofibrils and basal laminae were observed in the hearts from rats fed the copper-deficient diet and not treated with DMSO compared with hearts from groups fed the copper-adequate diet. The DMSO-treated rats fed the copper-deficient diet had hearts with intact structure but enlarged mitochondria compared with other groups fed the copper-deficient diet. The delta subunit of ATP synthase and the nuclear-encoded cytochrome c oxidase subunits IV and V were depressed in rats fed a copper-deficient diet regardless of antioxidant treatment and pair-feeding. These data suggest that the effects of copper deficiency upon ATP synthase and cytochrome c oxidase proteins are not due to the cardiac pathology.
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PMID:Low levels of ATP synthase and cytochrome c oxidase subunit peptide from hearts of copper-deficient rats are not altered by the administration of dimethyl sulfoxide. 820 36

There is a strong possibility that lipid peroxide (LPO) exerts a great influence on the persistence of pulmonary vascular obstruction (PVO) after radical operation of congenital heart disease with pulmonary hypertension (PH). We investigated the relationship between LOP and PVO, and discussed the effects of scavengers. Fourteen cases of infantile open heart surgery were investigated. LPO, superoxide dismutase SOD and reduced glutathione (GSH) were measured in blood and lung tissue. In the cases of PH group, the levels of lung tissue and plasma LPO showed significantly higher than those of PS group (p < 0.05) before and after radical operation. The levels of Pp/Ps and pulmonary vascular resistance (PVR) of PH cases showed still higher than those of PS group (p < 0.05) even after radical operation. In addition, the levels of plasma and lung tissue SOD, lung tissue GSH of PH cases were lower than those of PG group. These suggest that LPO plays an important role as the cause of PVO before operation and which remains unchanged even after operation. It is to be expected that increase of the free radical scavengers will be effective to suppress the generation of LPO and at last to reduce the level of PVR after operation.
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PMID:[Lipid peroxide and free radical scavengers in congenital heart disease with pulmonary hypertension]. 827 69


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