[Analysis of serum beta 2-microglobulin in multiple myeloma, non-Hodgkin's malignant lymphoma and chronic lymphoid leukemia].
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Biomedical subjects
Publications and source records attributed to A Tóth.
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We report on two sisters with Perrault's syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They were deaf-mute and of normal height with a few minor somatic anomalies. Both had streak gonads and an apparently normal female 46,XX chromosome constitution. The parents were apparently not consanguineous. The mother had normal hearing. Other relatives were not available for study. Epilepsy, which occurred in three relatives including one of the index patients, may have been inherited coincidentally from the mother's family.
Airways response to inhaled acetylcholine was studied in asthmatic patients with negative and positive response to exercise. The respiratory threshold of acetylcholine proved to be lower in exercise-responders. Mean value of the bronchoconstrictive dose of acetylcholine was found 72 +/- 78 micrograms in patients with positive, while 510 +/- 360 micrograms in those with negative response to exercise challenge. Our data seem to confirm previous hypotheses, i.e. that exercise-induced asthma is a phenomenon dependent on two factors: mediators generated during exercise (histamine, catecholamines, neutrophil chemotactic factor) and a vagal response from the bronchi.
The effect of conditioning of the inhaled air on exercise-induced bronchospasm was studied in adult asthmatic patients. In case of inhaling humified air of body temperature, the lung function parameters showed hardly any change after exercise compared to those detected before the test, i.e. the bronchoconstrictive effect of physical exertion could not or hardly be observed.
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The significance of trisomy 20 mosaicism in cultured amniotic fluid cells is still confusing. We report a case of amniotic cell normal/trisomy 20 mosaicism diagnosed prenatally. The pregnancy was carried to term and a normal baby girl was delivered. The authors consider that in cases of amniotic fluid cell normal/trisomy 20 mosaicism the termination of pregnancy may not be advised, however, the parents should be fully informed.
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An account is given of cytogenetic causes of male infertility, on the basis of literature and the authors' own observations. Impairment of sexual differentiation was found to be one of the causes of infertility. The functional mechanisms of the Y-chromosome and H-Y antigen are discussed, in that context. The structural changes in the Y-chromosome were found to provide a possibility of gene labelling and to offer an explanation of the genetic processes underlying various types of infertility. An analysis was made also of male fertility accompanied by aberrations of the other chromosomes. The point is made that in the pathogenesis of male infertility decisive importance should be attributed to chromosomal aberrations, above all to deviations of sexual chromosomes. Thorough cytogenetic examination is absolutely essential unless another causative factor has been clearly established.
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The present studies were designed to monitor metabolic perturbations following changes in contractile activity and ion transport in rat and rabbit myometrium by simultaneous measurement of NADH fluorescence, lactate production and isometric force. Stimulation (127 mM K+) and inhibition (Ca2+-deficient solution) of isometric force development induced a decrease/increase of fluorescence intensity corresponding to a more oxidized/reduced state of tissue pyridine nucleotides, respectively. If tension development was abolished by EGTA, fluorescence changes due to altered ion transport could be monitored. Slow progressive stimulation of the sodium pump by Ca2++-deficient solution resulted in an ouabain (10(-3) M) sensitive monophasic NADH oxidation, which was reversed by inhibition of the pump by isotonic K+ solution. If, however, stimulation of the pump was rapid and maximal (addition of 30 mM KCl to Na+-loaded tissues) the fluorescence response was triphasic and ouabain sensitive: it consisted of an initial NAD reduction followed by a transient NADH oxidation and a second slow NAD reduction. These fluorescence changes are interpreted in terms of separate redox changes in the cytoplasm and mitochondria. The ouabain sensitive stimulation or inhibition of Na/K transport was always accompanied by parallel changes in uterine lactate production irrespective of the actual contractile state of the myometrium. The present results show that 1 fluorescence technique can be applied to monitor metabolic perturbations in the uterus evoked by changes in contractility or ion transport; and 2 aerobic glycolysis and Na/K transport are tightly coupled in the myometrium.
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