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

To assess the relation of hyperaldosteronism and potassium depletion to the intensity of diuretic therapy we have measured plasma aldosterone by radioimmunoassay and total exchangeable potassium by radioisotope dilution in 24 patients when they were stable at the end of their preparation for cardiac operation. Some patients required intensive frusemide therapy to reach an optimal state for operation and many showed hyperaldosteronism. Plasma aldosterone was significantly related to daily dose of frusemide (r=0.77). Depletion of total exchangeable potassium expressed in terms of predicted weight was significantly related to plasma aldosterone (r= -0.64). The reduction in total exchangeable potassium is interpreted as chiefly related to loss of lean tissue mass from the wasting that leads to cardiac cachexia, but evidence is presented on the basis of measurements of extracellular fluid volume as sulphate space (20 patients) of entry of sodium into the cells which may indicate a true cellular potassium loss. Although plasma potassium is usually easily maintained with oral potassium supplements or aldosterone antagonists, we postulate that intensive diuretic therapy in severe heart disease may provoke hyperaldosteronism which accentuates potassium loss and may contribute to wasting and to intracellular potassium depletion in critical tissue, such as myocardium.
 ...
PMID:Relation of plasma aldosterone concentration to diuretic treatment in patients with severe heart disease. 50 54

Nineteen children with clinical diagnoses of renal tubular acidosis were followed for periods ranging from 3 months to 20 years. Twelve patients had Type 1 renal tubular acidosis, five had Type 2, and two had Type 4. No sex predilection was found for any one of the types. Most patients had been diagnosed before 18 months of age, with failure to thrive the most common presentation. Tachypnea, polydipsia, polyuria, and vomiting were frequent symptoms. Some of these children had associated renal hypoplasia, vesicoureteral reflux, unilateral renal agenesis, glomerulocystic disease, adult polycystic kidney disease, and cyanotic congenital heart disease. Urinary anion gap may be useful for differential diagnosis of altered distal urinary acidification from other hyperchloremic metabolic acidosis. Furosemide test may need further investigation. Inability to raise urine to blood pCO2 gradient is helpful for diagnosis of Type 1 renal tubular acidosis. Hypokalemia, hypocalcemia, hypophosphatemia, decreased tubular reabsorption of phosphate, and hypercalciuria occurred in some patients. Complications included rickets in two, nephrocalcinosis in one, and episodic hematuria in one. There was relative bicarbonate wasting in children with Type 1 renal tubular acidosis, with a mean therapeutic bicarbonate requirement of 4.4 +/- 2.6 meq/kg/day. The mean bicarbonate dose for patients with Type 2 renal tubular acidosis was 8.3 +/- 2.6 meq/kg/day. Most children had good response to treatment with complete catch-up linear growth in 13, improved growth in 4, and continuing poor growth in 2. Two patients died during follow-up. Two other patients maintained normal growth without medication.
 ...
PMID:Renal tubular acidosis in childhood. 226 80

Five generations of an Italian family with an autosomal dominant restrictive cardiomyopathy are described. Members of four generations were examined. Symptoms usually developed in the third or fourth decade but the disease did occur in childhood. Initially the condition was characterised by normal ventricular size and systolic function with increased diastolic filling pressures in both ventricles and consequent bi-atrial enlargement. Cardiac catheterisation showed a left ventricular filling pattern of "dip and plateau". The electrocardiogram typically showed non-specific changes in the ST segment and T wave and changes indicating considerable atrial enlargement, which were confirmed by echocardiography. Light microscopy of two endocardial biopsy specimens showed no specific features but excluded the endomyocardial fibrosis of eosinophilic heart disease, amyloid, and specific heart muscle diseases. At necropsy in one case examined under light microscopy extensive patchy fibrosis was found throughout the endocardium, myocardium, and subepicardium, but there were no features typical of eosinophilic heart disease. Histopathological and biochemical examination of skeletal muscle identified no abnormality. The disease often had an insidious course over five to ten years after presentation. Bundle branch blocks, leading to complete atrioventricular block, however, often occurred and may be the first manifestation. Some individuals who survived into the fifth decade developed a progressive, non-wasting skeletal myopathy.
 ...
PMID:Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. 231 4

Biological abnormalities simulating Bartter syndrome were observed in a preterm neonate with complex cyanotic congenital heart disease, for which ductus arteriosus was maintained open by high doses of prostaglandin (PG) until a Blalock shunt could be performed. These abnormalities spontaneously disappeared after cessation of PG administration. We postulate that the natriuretic effect of exogenous administered PG could further increase sodium wasting already induced by the cardiopathy thus leading to pseudo-Bartter syndrome.
 ...
PMID:Exogenous prostaglandin administration and pseudo-Bartter syndrome. 261 11

Two females mother and daughter, were affected by a neuromuscular disorder, characterized by slow progression, humeroperoneal weakness and wasting, limited neck flexion, elbow and ankle joint contractures, cardiopathy and myopathic pattern on EMG. Muscle histology and histochemistry showed type I fiber atrophy and predominance in both. Cardiac abnormalities, in the first case, were suggestive of a hypertrophic cardiomyopathy while in the second hypotension and chronic bradycardia were present. Neurological signs, EMG and morphology seemed to point to a genetic variant of the form of dystrophy named Emery-Dreifuss disease. The mode of transmission and cardiac abnormalities, however, raise the problem of variability even in this well-defined, usually X-linked, disorder.
 ...
PMID:Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: a genetic variant of Emery-Dreifuss disease? 395 25

Many Western children with congenital heart disease (CHD) show significant growth retardation. In this study postnatal growth was examined in Chinese children with symptomatic CHD in Hong Kong, in relation to their diagnosis and the time of surgery. 363 children of four years old or younger, who were admitted at Grantham Hospital, Hong Kong, in 1994 and 1995, were subdivided into six diagnostic categories and categorised into cyanotic and acyanotic groups. While a reduced birth weight SDS was present in 18% of patients, at the time of operation approximately 40% of them had subnormal weight and height values. Girls were more impaired in weight and weight-for-height than boys (-1.90 SDS vs -1.52 SDS, and -0.90 SDS vs -0.46 SDS, respectively). Children with acyanotic lesions were more affected in growth than those with cyanotic lesions, but they were also operated on at an older age than children in the latter group. Left to right shunt and common intracardiac mixing were particularly associated with wasting; transposition of the great arteries and pulmonary outflow tract obstruction with stunting; while children with left ventricular outflow obstruction revealed a proportional growth retardation in weight and height. Age at operation did not seem to have an independent effect on postnatal growth in children with CHD. As with Western children, growth retardation is a common feature in Chinese children with symptomatic cardiac defects. Haemodynamics, age at operation and nutritional influences are discussed as potential aetiologic factors.
 ...
PMID:Postnatal growth in southern Chinese children with symptomatic congenital heart disease. 1077 93

The aim of the study was to analyse critically the programme for surgical management of children in Papua New Guinea (PNG) with congenital heart disease. A hospital record-based analysis was undertaken to document the pattern, management and short-term outcome of surgery in PNG children referred with a diagnosis of congenital heart disease to the Royal Alexandra Hospital for Children in Sydney, Australia. On admission, physical examination, chest radiogram, electrocardiogram, cross-sectional echocardiogram and, in most cases, cardiac catheterization were performed. Of the 170 children referred over the 17-year period, 1978-1994, 165 were confirmed to have congenital heart disease and were included in the study. Their ages ranged from 2 months to 16 years (median 5.5) and the male to female ratio was 1:1. One-sixth had delayed milestones and one-fifth long-term wasting. A large number were tachypnoeic, in heart failure or had pulmonary hypertension on admission. Ventricular septal defect, 34%, tetralogy of Fallot, 23%, and patent ductus arteriosus, 16.4%, were the predominant defects. lesions such as aortic stenosis, coarctation of the aorta and transposition of the great arteries are under-represented. Altogether, 133 children (81%) had surgery; 75% were open- and 25% closed-heart operations. The complications were unremarkable and the mortality rate (6%) acceptable for the era. The programme was therefore very successful for a small proportion of children born in PNG with congenital heart disease.
 ...
PMID:Congenital heart disease in Papua New Guinean children. 1173 45

In order to study the functions of simian immunodeficiency virus (SIV) Nef in vivo in a small-animal model, we constructed transgenic (Tg) mice expressing the SIV(mac)239 nef gene in the natural target cells of the virus under the control of the human CD4 gene promoter (CD4C). These CD4C/SHIV-nef(SIV) Tg mice develop a severe AIDS-like disease, with manifestations including premature death, failure to thrive or weight loss, wasting, thymic atrophy, an especially low number of peripheral CD8+ T cells as well as a low number of peripheral CD4+ T cells, diarrhea, splenomegaly, and kidney (interstitial nephritis, segmental glomerulosclerosis), lung (lymphocytic interstitial pneumonitis), and heart disease. In addition, these Tg mice fail to mount a class-switched antibody response after immunization with ovalbumin, they produce anti-DNA autoantibodies, and some of them develop Pneumocystis carinii lung infections. All these results suggest a generalized Nef-induced immunodeficiency. The low numbers of peripheral CD8+ and CD4+ T cells are likely to reflect a thymic defect and may be similar to the DiGeorge-like "thymic defect" immunophenotype described for a subgroup of human immunodeficiency virus type 1-infected children. Therefore, it appears that SIV Nef alone expressed in mice, in appropriate cell types and at sufficient levels, can elicit many of the phenotypes of simian and human AIDS. These Tg mice should be instrumental in studying the pathogenesis of SIV Nef-induced phenotypes.
 ...
PMID:Expression of simian immunodeficiency virus nef in immune cells of transgenic mice leads to a severe AIDS-like disease. 1190 38

Echoviruses have been implicated in multiple human disease syndromes, including aseptic meningitis, paralysis, and heart disease, but no animal model is available for studying the pathogenesis of infection. Production of human integrin very late antigen 2, a receptor for echovirus type 1, in transgenic mice conferred susceptibility to viral infection. Intracerebral inoculation of newborn transgenic mice with echovirus leads to paralysis and wasting. No disease was observed in infected nontransgenic mice. In paralyzed mice significant damage was observed in the outer layers of the cerebrum, and numerous condensed neuronal nuclei were present. In contrast, intracerebral inoculation of adolescent (3- to 4-week-old) transgenic mice with echovirus type 1 did not lead to paralysis but an acute wasting phenotype and myocarditis. These findings establish human very late antigen 2 transgenic mice as a model for echovirus pathogenesis.
 ...
PMID:Transgenic mouse model for echovirus myocarditis and paralysis. 1467 80

Cells contain limited and sequestered pools of Coenzyme A (CoA) that are essential for activating carboxylate metabolites. Some acyl-CoA esters have high metabolic and signalling impact, so control of CoA ester concentrations is important. This and transfer of the activated acyl moieties between cell compartments without wasting energy on futile cycles of hydrolysis and resynthesis is achieved through the carnitine system. The location, properties of and deficiencies in the carnitine acyltransferases are described in relation to their influence on the CoA pools in the cell and, hence, on metabolism. The protection of free CoA pools in disease states is achieved by excretion of acyl-carnitine so that carnitine supplementation is required where unwanted acyl groups build up, such as in some inherited disorders of fatty acid oxidation. Acetyl-carnitine improves cognition in the brain and propionyl-carnitine improves cardiac performance in heart disease and diabetes. The therapeutic effects of carnitine and its esters are discussed in relation to the integrative influence of the carnitine system across CoA pools. Recent evidence for sequestered pools of activated acetate for synthesis of malonyl-CoA, for the synthesis of polyunsaturated fatty acids and for the inhibition of carnitine palmitoyltransferase 1 to regulate fatty acid oxidation is reviewed.
 ...
PMID:Carnitine acyltransferases and their influence on CoA pools in health and disease. 1536 37


1 2 Next >>