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Biomedical subjects

H R Marti

Publications and source records attributed to H R Marti.

At least 37 records · Page 2Linked to original sources
PubMed1983

[Probe test for the detection of hemoglobinopathies and enzyme defect anemias].

The simplest methods for the diagnosis of thalassaemias are the morphology of erythrocytes, the Hb-F-elution test and the Hb H Heinz bodies test. In order to prove the sickle cell anomaly sickle cell preparation and Hb-S-precipitation test can be performed in every laboratory. By means of the isopropanol precipitation test or the Heinz bodies test can be searched for instable haemoglobins without any laboratory expenditure. On the other hand, haemoglobins with increased oxygen affinity demand a measurement of the oxygen affinity of the erythrocytes. However, simple fluorescence or dye-stuff methods are out our disposal for the most important erythrocytic enzymopenias.

Anemia, Hemolytic↗
PubMed1983

Red cell survival and red cell enzymes in patients on continuous peritoneal dialysis (CAPD).

In 11 patients on CAPD with persisting anemia the survival of red cells labelled with 51Cr, red cell mass and the levels of several enzymes within red cells were measured. 51Cr red cell survival was shortened in 9/11 (mean +/- SD:20.0 +/- 4.9 days) and correlated with red cell mass, i.e. with the degree of anemia (r = 0.79, P less than 0.01). Determinations of the levels of enzymes of the hexose monophosphate shunt and the glycolytic pathway revealed no obvious defects in red cell metabolism. The level of hexokinase (HK) was normal whereas the activities of glucose-6-phosphate dehydrogenase (G-6-PD), 6-phosphogluconate dehydrogenase (6-PGD), glutathione reductase (GR) and pyruvate kinase (PK) as well as reduced glutathione (GSH) were increased significantly. CAPD did not eliminate the hemolytic component of anemia in the majority of these patients.

Anemia↗
PubMed1981

[Clarification of anemia: quality control in the general practice laboratory].

In mailed blood samples from 602 adult patients with beta-thalassaemia trait, a mean MCH value of 20.5 pg with a 2 s range of 17-24 pg was found. These values are identical to those determined in fresh blood samples. Furthermore, the Gaussian distribution indicates that reliable values are obtained in mailed blood samples. From patients with previous blood analyses in hospital and biochemical laboratories the MCH values of the foreign laboratories correlated well with our results (r = 0.87). On the other hand, a poor correlation was observed for private practice laboratories (r = 0.71). The difference of the two correlation coefficients is statistically highly significant (p less than 0.001). There is clearly a need for MCH quality control in the laboratories of many practitioners. Continuous quality control by means of values from healthy persons and the use of stabilized control blood is recommended.

Erythrocyte Count↗
PubMed1981

Antipyretic activity of fluproquazone in man.

A multicentric, double-blind, randomized, parallel-group study was performed in patients with fever of diverse origin to test the tolerance and the antipyretic activity of single oral doses of 4-(p-fluorophenyl)-1-isopropyl-7-methyl-2(1H)-quinazolinone (fluproquazone) (200 mg, n = 18), acetylsalicylic acid (ASA) (1000 mg, n = 22) and placebo (n = 19). Whereas with placebo mean rectal temperature remained constant, a continuous fall was recorded with both active medications over the whole 3-h study period. With fluproquazone normalization of body temperature was nearly reached. Fluproquazone was more effective than placebo (p less than 0.001) and ASA (p less than 0.1), which in turn was more active than placebo (p less than 0.0001). No specific side-effects occurred.

Adult↗
PubMed1980

[Clinical demonstrations of hereditary disorders of metabolism].

Case reports are presented on 4 outpatients with hereditary disorders of metabolism. 1. In a 46-year-old male of Sicilian origin with haemolytic anaemia and leg ulcers, the blood contained numerous target cells, the sickling test was positive, and more than 80% of the haemoglobin was found to be HbS. Investigation of the family revealed double heterozygosity for HbS and beta-thalassaemia. 2. In a family with hereditary nonspherocytic haemolytic anaemic, the biochemical characterization of an abnormal pyruvate kinase is reported: the kinetic data were found to be normal, the electrophoretic migration rate of the abnormal enzyme was increased, and its thermostability was marked decreased. 3. Malignant hyperthermia was observed in an 18-year-old male. The limited value of all methods for identifying affected family members is discussed. 4. In 2 sisters who suffered life-threatening attacks of acute myoglobinuria, differential diagnosis comprised hereditary deficiency of phosphofructokinase, muscle phosphorylase and carnitine palmityl transferase. The activity of the former two enzymes was found to be normal. The circumstances of the myolytic crisis in the two patients provide strong evidence for the presence of a muscle carnitine palmityl transferase deficiency.

Adenosine Triphosphate↗
PubMed1980

[Clinicohematologic effects of hemoglobin Altdorf (alpha 2 beta 2 135 Ala replaced by Pro)].

Hb Altdorf alpha 2 beta 2 135 Ala leads to Pro is an unstable variant occurring near Lecce in Italy. The abnormal hemoglobin does not separate from Hb A in the electrophoresis. In vitro a marked Heinz body formation is produced with phenylhydrazin. In heterozygous individuals an almost compensated hemolysis and a slight splenomegaly are found. Hemolysis can be aggravated by exogenous factors. A rather severe hemolysis was induced by a viral infection in a 3 years old girl.

Adolescent↗
PubMed1979

[Medical education].

There can be no doubt about the need for more comprehensive medical education. Increasing pressure has been brought to bear from outside on health care, calling for humanization and extension into hitherto neglected areas such as health disorders due to psychological, professional, familial and environmental problems. A new education and re-education programme must include an ethical basis, communication and cooperation with patients and exchange of the biomedical model for a biopsychosocial model of disease.

Communication↗
PubMed1979

Hemoglobin Moabit: alpha 86 (F7) Leu leads to Arg: a new unstable abnormal hemoglobin.

A new alpha chain abnormal hemoglobin variant was found in a Turkish patient with a mild Heinz body hemolytic anemia and splenomegaly. The substitution alpha 86 Leu leads to Arg, which is next to the heme binding proximal histidine, is responsible for a marked instability of the molecule. The oxygen affinity of the erythrocytes was found to be slightly decreased.

Adult↗
PubMed1978

Haematological data of African newborns and their mothers in Abidjan.

The analysis of cord blood samples of 198 African newborns and their mothers confirmed the high prevalence of iron deficiency. A hypochromia and microcytosis of red cells was found in 40% of the pregnant women at term. In the majority of newborns the haemoglobin concentration was below 16 g/100 ml. Hb S was found in 11%, Hb C in 9% and alpha-thalassaemia in 2% of the population examined. Haemoglobin, packed cell volume and mean cell volume of erythrocytes were lower than results of newborns from developed countries. Foetal sex had no influence on haematological variables.

Anemia, Hypochromic↗
PubMed1977

Characterization of abnormal glucose-6-phosphate dehydrogenase variants.

For characterizing glucose-6-phosphate dehydrogenase variants 10 functional parameters are generally used. As additional tests the determination of Km and Ki at different pH values, the limiting Km for both substrates, isoelectric focusing and electrophoresis of enzyme subunits have been recommended. Most of the variants with favourable kinetic properties do not produce chronic haemolysis. As an exception G6PD Aarau is quoted. Sporadic cases and deficiency conditions with manifest chronic nonspherocytic haemolytic anaemia should be selected for complete enzyme characterization. Individual and public health aspects are of primary importance for screening programs. Among 28,367 blood samples 424 cases with G6PD deficiency have been found in Switzerland.

Electrophoresis↗
PubMed1976

Editorial: Red cell ageing and death.

To obtain red cell populations of increasing mean age erythropoiesis was arrested through continuous actinomycin treatment or maintained transfusion polycythemia in mice and rats respectively. The parameters studied included cell indices, enzyme activities and rheological characteristics. Further, the life-span of aged cells was compared to normal, and the sequestration site was determined. Mice erythrocytes, like those of rats, exerienced a continuous decrease in MCV1, an early rise in MCHC, and late MCH reduction. In ageing rat erythrocytes the activities of HK, GR and 6-PGD did not fall below the normal range during the first 9 tenths of the potential life-span. On the other hand, a borderline reduction of PK activity was found, and the activity of G-6PD underwent a steady though unimpressive decrease to 70% of the physiological average. Aged erythrocytes, forced through 15-mum capillaries differed in apparent viscosity from reticulocytes and normal cells by a factor of 1.31 and 1.16, respectively. Destruction of senescent cells was predominantly confined to the spleen, and prolonged erythrocyte survival followed splenectomy.

Animals↗