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Biomedical subjects

H R Marti

Publications and source records attributed to H R Marti.

16 recordsLinked to original sources
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↗
PubMed1976

Mechanism of post dialysis hyperventilation in patients with chronic renal insufficiency.

Several hypotheses have been put forward to explain postdialysis hypocapnia. Three were tested in this study: impairment of tissue oxygenation by dialysis (D)-induced alkalosis (Bohr effect), the D disequilibrium syndrome, and the loss of carbon dioxide (CO2) in D fluid. In 17 patients pre-DPCO2 was significantly correlated with plasma bicarbonate concentration (HCO3) and no disproportionate reduction of PCO2 was discernible. In 10 patients using a bath acetate concentration of 38 mEq/1 PCO2 was unchanged after D (35.4 versus 35.9 mm Hg before D), and was low relative to HCO3 whic increased from 21.2 to 28.0 mEq/1. After a dialysis using an acetate concentration of 25 mEq/1 HCO3 remained constant (20.4 versus 21.1 mEq/1 pre-D), whereas PCO2 fell from 35.3 to 30.8 mm Hg (P less than 0.001). Consequently PCO2 was again low relative to HCO3. Removal of CO2 by D fluid was excluded as a cause for low blood PCO2: addition of gaseous CO2 to the bath had no influence on arterial blood gases. Since post-D hypocapnia was not prevented when HCO3 was kept constant, it was concluded that post-D alkalosis cannot be the main reason for post-D hyperventilation, and that other factors related to the process of D are responsible.

Acetates↗
PubMed1976

Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in Switzerland. Demonstration of a new variant (G-6-PD Aarau) with chronic nonsphaerocytic haemolytic anaemia.

A new variant of erythrocytic glucose-6-phosphate dehydrogenase has been found in a family of Swiss origin. It is associated with chronic nonsphaerocytic haemolytic anaemia. The enzyme from the erythrocytes of a young boy of this family was partially purified 110-fold and characterized. It revealed reduced catalytic activity, increased thermolability and two maxima of the pH activity curve at pH 7.0 and 8.5. The Km value for glucose-6-phosphate was reduced, that for NADP was normal. The enzyme showed an increased inhibitor constant for NADPH with respect to NADP. Electrophoretic mobility was normal (B+). 2-Desoxyglucose-6-phosphate and galactose-6-phosphate were utilized at normal rates, whereas the analogue deamino-NADP gave an increased utilization rate. The mother of the propositus could be identified as heterozygous for this enzyme deficiency. Chronic haemolysis is possibly due to the increased thermolability of the variant enzyme.

Anemia, Hemolytic, Congenital Nonspherocytic↗
PubMed1975

[Hemotherapy in malignant hematologic diseases].

For the majority of patients with malignant blood diseases the ideal transfusion products are blood components instead of whole blood. The therapeutic use of packed red cells, platelets, leukocytes and albumin is briefly discussed.

Antigen-Antibody Reactions↗
PubMed1975

[Incidence of thalassemia in Switzerland].

A total of 2672 cases with thalassemia syndromes observed in the period from 1 January 1968 to 30 April 1974 are classified according to type of thalassemia and the patient's country of origin. During the past 15 years some 10 patients annually with classical heterozygous beta-thalassaemia have been found to be of purely Swiss origin. Due to increased immigration from Mediterranean countries the Swiss patients represent only 2.6 percent of all cases at the present time, a marked decrease from the earlier 30 percent. Since 1968 2260 cases of thalassemia syndrome have been found in Italian patients. Smaller groups of patients originate from Greece, Spain and Turkey. Homozygous beta-thalassemia was observed in 56 cases. Ranking third among thalassemia syndromes is the Hb Lepore trait found in 16 cases. The increase in thalassemia syndromes due to population migration over the past 10 years has resulted in the finding of rare types in Switzerland: 8 patients with HbS-beta-thalassemia, 2 with HbC-beta-thalassemia, 3 cases of HbH-alpha-thalassemia and 2 cases of Hb Bart's-alpha-thalassemia are reported. The difficulty of diagnosing deltabeta-thalassemia and alpha-thalassemia is emphasized.

Diagnosis, Differential↗
PubMed1975

A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia.

The mutant Hb P Galveston (beta117His leads to Arg) is observed in two heterozygotes for beta thalassemia and by itself does not cause clinical symptoms. Some of the physico-chemical properties of Hb P Galveston are identical to the onemical properties of Hb P Galveston are identical to the ones hemoglobin Zurich (beta 63 His leads to Arg) so that only a detailed analysis led to its proper identification.

Amino Acid Sequence↗