Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A deficient erythrocyte pyruvate kinase observed in a patient with congenital non-spherocytic anaemia was characterized by the following properties: very low activity in haemolysates, decreased thermal stability, slightly increased urea denaturation, high affinity for PEP, poor FDP activation, normal ATP inhibition, decreased affinity for ADP, normal pH of optimal activity, and presence of an abnormal slow-moving component in this layer polyacrylamide gel electrophoresis. The patient was probably double heterozygous for two different deficient mutants of erythrocyte pyruvate kinase.
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PMID:A deficient pyruvate kinase with an electrophoretically slow-moving component. 1 93

The relations between mechanocardiographic measurements, types of chronic glomerulonephritis (CGN) and clinical data were examined in 70 cases of CGN (20 cases of the latent type, 6 cases of the nephritic type, 14 cases of the nephrotic type, 10 cases of the hypertensive type and 20 cases of the endstage). (1) In the different types of CGN, mechanocardiographic abnormalities increased in the order: latent type less than nephritic type less than nephrotic type less than hypertensive type less than endstage. (2) In the endstage, prolongations of ICT, ICT2 and PEP (p less than 0.01), shortening of LVET (p less than 0.05) and decrease of LVET/PEP (p less than 0.01) were observed. These abnormalities may be related to decreased myocardial contractility. (3) Analysis of the relations between mechanocardiographic measurements and results of various tests in all the cases showed that ICT, ICT2 and PEP were most nearly related to GFR, DBP, gamma-globulin and serum sodium and Q-T, Q-II/Q-T and (Q-T) -- (Q-II) were nearly related to Ht and age. The changes in cardiac function may be entirely due to increased blood pressure, decreased renal function, electrolyte disturbance, dysproteinemia and anemia associated with CGN. Abnormality in cardiac function seems to depend on the relative abnormalities of these factors and the extents of their influences.
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PMID:Cardiovascular function in chronic glomerulonephritis: mechanocardiographic study. 44 19

Four new red-cell pyruvate kinase (PK) variants are presented along with one case of so-called classical type PK deficiency. PK 'Tokyo II' had a low activity, Km (PEP) and Vmax, but a normal urea stability and only slight deviation from normal in neutralization tests by antiserum. It had a normal nucleotide specificity, abnormal electrophoretic mobility (fast moving) and the variant was associated with a mild hemolytic anaemia. PK 'Maebashi' had a low activity, high Km (PEP), low Vmax, urea instability, decreased reactivity to antiserum, normal electrophoretic mobility, normal nucleotide specificity and was associated with a moderate haemolytic anaemia. PK 'Tsukiji' had low activity, high Km (PEP), markedly high Vmax, urea instability, decreased reactivity to antiserum, abnormal electrophoretic mobility (fast moving) and grossly abnormal nucleotide specificity especially abnormal behaviour to ADP. The haemolytic process in this case was moderate to severe. PK 'Ube' was electrophoretically abnormal (fast moving) but otherwise had normal characteristics and the propositus was healthy and not anaemic. PK 'Ube' was found by electrophoretic screening for genetic PK polymorphism. In the classical type PK deficiency, the usual red-cell PK (PK-R1 and PK-R2) was not demonstrable by electrophoresis but instead M2-type PK was present, presumably by compensatory process. Kinetic studies confirmed that the patient's red-cell PK consisted of M2-type PK. This patient had a severe haemolytic anaemia.
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PMID:Four new pyruvate kinase (PK) variants and a classical PK deficiency. 120 Nov 98

To clarify the hemodynamics of anemia, 28 patients with iron deficiency anemia were investigated in respect to their parameters of left ventricular (LV) systolic and diastolic function. The subjects were categorized in three groups: 1) patients (pts) with severe anemia, whose hemoglobin (Hb) concentration was less than 7 g/dl (N = 7); 2) pts with moderate anemia, whose Hb concentration was between 7 and 10 g/dl (N = 13): and 3) pts with mild anemia whose Hb concentration was between 10 and 12 g/dl (N = 8). Changes in hemodynamic parameters were observed before and after treatment in 14 subjects. These results were compared with those of normal subjects (N = 11). In the anemic patients, LV stroke volume (SV), and heart rate both increased. An increase in SV was accompanied by an increase in LV preload (LV diastolic diameter = LVDd by M-mode echocardiography) and an increase in the Doppler parameters of early diastolic filling (peak velocity in the rapid filling phase, acceleration rate, and deceleration rate). SV correlated roughly with LVDd (r = 0.44, p less than 0.05). In addition, the indices of LV contractility as measured by the pulsed Doppler method (ET/PEP) and by M-mode echocardiography (mVcf) also increased. These factors which contributed to hyperkinetic circulation were restored as the anemia improved. It was concluded that an increase in SV is an important determinant of high cardiac output in chronic anemia, because it parallels the severity of anemia. The change in SV is preload-dependent, and is suspected of being LV contractility-dependent.
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PMID:[Studies of hyperkinetic circulatory state in chronic anemia]. 210 8

Left ventricular function was evaluated noninvasively in cases of chronic severe anemia (CSA) by recording systolic and diastolic time intervals (STI and DTI). These time intervals were recorded in 38 patients with CSA (hemoglobin below 7 g%), without cardiac decompensation, and in 30 control subjects. STI and DTI were measured from the simultaneous recordings of the apexcardiogram, carotid arterial pulse, electrocardiogram and phonocardiogram. The left ventricular ejection time was significantly prolonged (p less than 0.02), and associated with marked shortening of the PEP and reduction of the PEP/LVET ratio (p less than 0.001 in each case) in cases of CSA as compared to controls. Regarding the DTI, there was significant shortening of total filling time, slow filling time (p less than 0.001 in each case) and atrial systole (p less than 0.01) with no appreciable change in rapid filling time and isovolumic relaxation time. The SFT/RFT ratio and a/H ratio (the amplitude of the a-wave relative to the total height of the apexcardiogram) showed significant reductions (p less than 0.001 in each case). These changes in STI and DTI indicate enhanced left ventricular performance during diastole followed by faster and more complete relaxation during diastole in CSA.
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PMID:Noninvasive evaluation of left ventricular function in chronic severe anemia. 272 35

Chronic effects of captopril were studied in 29 patients (age, 4 months to 16 years; mean, 6.9 years) suffering from digitalis and diuretic resistant congestive heart failure (CHF) or hypertension of different etiology. Twenty two patients with CHF (13 dilated, 4 restrictive cardiomyopathy, 5 congenital heart defects) and 7 cases with hypertension were treated for 1 to 31 months (mean, 9 months). The dose of captopril varied from 1 to 3 mg/kg/day (mean, 2.2 mg) in CHF and from 1.1 to 6.8 mg/kg/day (mean, 3.7 mg) in hypertension. In CHF digoxin therapy was maintained while the dose of diuretics could be reduced or discontinued. In 4 severely hypertensive patients the addition of a diuretic or beta blockers was necessary. In CHF clinical improvement was observed in 13 patients (59%), while there was no response in 4 and 5 patients died. The survivors exhibited a significant decrease of the cardiothoracic index (p less than 0.05), the PEP/LVET ratio (p less than 0.05) and an increase of the echocardiographic linear ejection fraction (p less than 0.001). If hypertension was present, blood pressure decreased in all patients (p less than 0.05). Captopril was well tolerated by all patients except one who developed anaemia. This side effect disappeared after having discontinued the drug. These findings suggest that captopril is of benefit in controlling chronic CHF. Captopril alone or in combination with other drugs is effective in the management of severe hypertension.
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PMID:Indications and effects of captopril therapy in childhood. 307 97

Nineteen patients with overt hypothyroidism were examined for the prevalence of myocardial disfunction, respiratory disturbances, peripheral neuropathy, and visual failure due to pituitary enlargement. Prevalences of pericardial effusion and myocardial disfunction (decrease PEP/LVET) were 50% and 75%, respectively. The degree of decreased myocardial function did not parallel with the grade of pericardial effusion. Arterial blood analysis indicated a frequent incidence of hypoxia in hypothyroidism. The incidence of hypoxia was 69%. The hypoxia was improved by thyroxine replacement therapy. In 6 patients examined for the ventilatory control, all had the index for hypercapnic ventilatory drive lower than normal control. It was suggested that the hypoxia in hypothyroidism was caused by a depression of the respiratory center in the brain and by anemia. Sensory nerve conduction was diminished in 6 of 11 hypothyroid patients and motor conduction in 6 of 15 was studied. In distal segments of sensory nerves, the abnormality frequently appeared before clinical symptoms of polyneuropathy. Visual field defect was detected in 71% of patients suffering of primary hypothyroidism. The most common characteristic change was the defect in the central visual field. All cases of visual field defect were cured by thyroid hormone replacement therapy. Two cases with deteriorated visual failure who did not improve during physiological replacement, were successively treated with over dosage of thyroid hormone.
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PMID:Unusual manifestations in primary hypothyroidism. 622 84

Echocardiographic assessment of cardiac function was made on 24 children with chronic renal failure of varying etiology and severity. In 20 patients without evidence of cardiac failure, parameters of left ventricular performance as represented by PEP/LVET and mean velocity of circumferential fiber shortening were within normal limits in the majority of patients. In addition, ejection fraction and shortening fraction were, in most children, within the 95% confidence limits for their age. In 4 patients who presented with congestive heart failure, marked left ventricular dilatation was noted in association with decreased shortening and ejection fractions and depressed mean velocity of circumferential fiber shortening. Also the PEP/LVET in these patients suggested the presence of a uremic cardiomyopathic condition. These studies, in addition to our own studies on children who have undergone fistula construction, hemodialysis, and transplantation, suggest that cardiac performance, in the majority of pediatric patients with end-stage renal disease, is well maintained and that the major factor involved in reducing exercise tolerance is the presence of uremic anemia. Only a minority of patients may develop severe uremic heart disease.
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PMID:Echocardiographic assessment of cardiac function in children with chronic renal failure. 658 80

Systolic time intervals were measured from simultaneous high speed recordings of the electrocardiogram, phonocardiogram, and carotid artery pulse in 15 men with chronic severe anaemia not in heart failure and with a normal heart size, and in 15 normal men. Heart rates, electromechanical systole (QS2), pre-ejection period index (PEPI), left ventricular ejection time index (LVETI), and the ratio of pre-ejection period to left ventricular ejection time (PEP/LVET) did not differ significantly in the two groups. After the intravenous administration of frusemide in 10 of the anaemic patients, the pre-ejection period index was prolonged, the PEP/LVET ratio increased, heart rate increased, and the left ventricular ejection time index shortened. Intravenous digoxin did not alter the QS2 interval and heart rate significantly in the anaemic subjects. Left ventricular function in chronic severe anaemia as measured by systolic time intervals does not differ from that of normal controls. The effect of frusemide on the systolic time intervals is explained as an effect of the fall in preload, bringing cardiac function further down on the ascending limb of the Frank-Starling curve. Other related studies are discussed.
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PMID:Systolic time intervals in chronic severe anaemia and effect of diuretic and digitalis. 727 17

Results of measurements of systolic time intervals (STI) in 32 patients of chronic severe anemia, before and after treatment, were studied. The patients were all without any clinical, radiological, or electrocardiographic evidence of cardiac decompensation. Data from an equal number of normal age and sex matched control subjects were also analysed. STI in individual patients showed a wide variation which precluded specific diagnostic utility. As a group, however, anemic patients showed significant differences from normal control subjects. Significant differences between pre-treatment and post-treatment values also suggest that chronic severe anemia adversely affects cardiac contractile function. Of the various STI measurements, PEP and PEP/LVET ratio were found useful parameters to be studied.
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PMID:Effect of chronic severe anemia on left ventricular performance. A study of systolic time intervals. 743 66


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