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Biomedical subjects

H R Marti

Publications and source records attributed to H R Marti.

At least 19 recordsLinked to original sources
PubMed1993

[50 years of Swiss Academy of Medical Sciences].

The Swiss Academy of Medical Sciences is a foundation under private law, which was founded September 24, 1943, by the Medical and Veterinary Faculties of the Swiss universities and the Swiss Medical Association. It devotes its resources to the advancement of the medical sciences and awards research grants, scholarships and scientific prizes. Its other services include a scientific documentation service (DOKDI), the medical-ethical evaluation of research projects and the publication of guidelines and recommendations for physicians, particularly concerning ethical standards of behaviour. The 50 years' existence of the institution will be commemorated at a ceremony to be held in Berne September 23, 1993.

Academies and Institutes↗
PubMed1989

Automated blood count analysis by trimodal size distribution of leukocytes with the SYSMEX E-5000.

The automated haematology analyser, SYSMEX E-5000, measures and computes quantitative haematological parameters, and determines the size distribution of blood cells and platelets. After partial lysis, the analyser classifies the leukocytes into 3 populations: small cells (lymphocytes), intermediate sized cells (basophils, eosinophils, monocytes) and large cells (neutrophils, including band cells). One thousand blood samples from inpatients and outpatients were analysed automatically in the SYSMEX as well as being submitted to microscopic blood smear differentiation, and the results were compared. The trimodal size distribution of the automated analysis revealed 1.8% false normal results. Ten cases of eosinophilia of between 6.6 and 12.5% remained undetected by the automated method, which also failed to detect 7 cases of left shift with normal leukocyte count, as well as a single sample containing 2% of myelocytes. Both diagnostic sensitivity and diagnostic specificity were high, i.e. 97.1% and 81.8%, respectively. The predictive values were also high for both pathological and normal results. Since certain changes in blood cell morphology are not detected by the SYSMEX, certain clinical indications still call for a microscopic blood smear examination. With due regard to these limitations, the apparatus yields reliable results and economizes considerably the routine laboratory work load. In the present study, 31% of the microscopic blood cell differential counts were saved by using the SYSMEX E-5000.

Humans↗
PubMed1987

[Hemoglobinopathies and erythrocyte enzyme deficiencies in Switzerland: laboratory diagnoses of the last 10 years].

In 26,224 blood samples sent to the laboratory in the last 10 years, abnormal haemoglobins were present in 565 samples and 5579 cases of thalassaemia have been diagnosed. With routine testing a red cell enzyme deficiency was found in 722 samples. Laboratory tests for delta beta-thalassaemia, alpha-thalassaemia and glucose-6-phosphate dehydrogenase deficiency had been requested only for a minority of the detected cases. It is obvious that many physicians are not familiar with these disorders.

Erythrocytes↗
PubMed1987

Can automated haematology analysers discriminate thalassaemia from iron deficiency?

The use of automated analysers in population screening for beta-thalassaemia has been a matter of controversy. The new fully automated haematology analyser Sysmex E-5000 (Toa Medical Electronics Co. Ltd) facilitates the discrimination of heterozygous thalassaemia from iron deficiency anaemia. In addition to haemoglobin, mean corpuscular haemoglobin and mean corpuscular volume, the red cell size-distribution width is measured. In patients with hypochromic microcytic red cells, the Sysmex data have been evaluated and compared with the indices described by England and Fraser [Lancet i, pp. 449-452, 1973], Mentzer [Lancet i, p. 882, 1973] and by Shine and Lal [Lancet i, pp. 692-694, 1977]. For the detection of beta-thalassaemia trait, the size-distribution width is superior to the previously described indices. The sensitivity is 79%, the specificity 95% and the predictive value for a positive test 94%.

Diagnosis, Differential↗
PubMed1986

[Kala-azar imported from Yugoslavia].

Two months after a vacation in Bosnia and at the Dalmatian coast, a 52-year-old Jugoslav male resident in Switzerland developed slowly progressive fever with arthralgia. Two months later his temperature became septic and his general condition deteriorated. After many wrong diagnostic tracks, six months after onset of the illness kala-azar was finally diagnosed. Treatment with Pentostam cured the disease completely.

Antimony Sodium Gluconate↗
PubMed1986

[Hemoglobin A1c in patients under periodic hemodialysis or continuous ambulatory peritoneal dialysis].

In 44 dialyzed patients (27 nondiabetic hemodialysis, 10 CAPD patients and 7 diabetics) hemoglobin A1c (HbA1c) concentrations were measured comparatively by column chromatography (using Bio-Rad columns) and the thiobarbituric acid (TBA) method. With column chromatography the values were significantly higher in each patient group than in healthy controls. In the diabetics, who on average showed elevated blood glucose levels, HbA1c concentrations were higher than in the other dialysis patients, although there was some overlap. On the other hand, concentrations measured in non-diabetic patients with the TBA method were only marginally higher than in controls. It is well known that column chromatography measures carbamylated hemoglobin with HbA1c, and for this reason false high concentrations are found in renal failure. The TBA method is precise and specific in this situation but unfortunately is too time-consuming for routine determinations. The simple column chromatographic method is of only limited value in the control of diabetics with renal failure; nevertheless, unequivocally elevated concentrations of greater than or equal to 7% HbA1c are a good indicator of unsatisfactory metabolic control.

Diabetes Mellitus, Type 1↗
PubMed1985

[Familial deficiency of thyroxine-binding globulin].

A family with congenital athyropexinemia is reported. By reconstruction of the family tree over seven generations, a heterozygous woman born in 1842 was identified as the first carrier of the anomaly who introduced the disorder into two family branches by marrying twice. 24 descendants examined included 6 heterozygous females and 8 hemizygous males. All were euthyroid. The mode of inheritance was obviously linked to the X-chromosome. An interesting fact was that in one family thyroxine binding globulin was absent or measured only in traces in hemizygous patients.

Female↗
PubMed1985

[Benefits of routine automatic blood picture differentiation].

The benefits of automated blood smear differential cell counting as a supplementary laboratory examination have been studied. The investigations focussed on patients of whom hematology requisitions were limited to total leukocyte count and hemoglobin determination. The specimens were derived from patients of departments of surgery and obstetrics and gynecology. For specimen collection the vacutainer system was used. The blood smears were prepared in a Coulter Electronics slide spinner, stained with a Hematek II slide stainer and analyzed in the Coulter Electronics Diff 3-50 cell classifier. A total of 1700 blood smears were examined. Following processing of each sample, the classification of each cell was inspected. Corrections were performed, if necessary, and the number of classification changes performed for each smear was registered. Using the in-house normal ranges, 34.5% were pathological smears. Since this group included a large number of borderline cases, new discrimination limits for clinically relevant pathological findings were set empirically. According to these wider ranges, the fraction of pathological slides amounted to 15.2%. Among these, immature granulocytes, eosinophilia and lymphopenia were the most frequent pathological findings. Microscopic control proved in 57.6% of the total number of smears. This complemental procedure was not found to be time-consuming.

Automation↗
PubMed1985

[Pancytopenia].

Explore the source record for details and available documents.

Anemia, Aplastic↗
PubMed1984

[Hereditary erythrocyte pyruvate kinase abnormality: another kindred from Aargau Canton].

A Swiss family with abnormal red cell pyruvate kinase is described. In two new-born siblings the red cell defect was responsible for marked hyperbilirubinemia. At the present time both children have compensated hemolysis and are clinically healthy. The abnormal enzyme is unstable and has a decreased Hill coefficient and a decreased substrate affinity. It is different from two other enzyme variants found in the same area.

Erythrocytes↗
PubMed1984

[Acute rhabdomyolysis following administration of succinylcholine].

Acute rhabdomyolysis without hyperthermia, after anesthesia including succinylcholine, is described in a father and son. Rhabdomyolysis-associated acute renal failure was mild in the son but severe in the father. Known enzymatic muscular defects were excluded as cause. The clinical picture of anesthesia-associated rhabdomyolysis is discussed on the basis of these two cases and a review of the literature.

Acute Disease↗
PubMed1984

[Hemoglobinopathies in developing countries].

The most important haemoglobinopathies in developing countries are reviewed in the light of new results elicited with modern research approaches. It has been shown that the sickle mutation originating in a localized region in West Africa arose independently of the mutation in East Africa and Asia. The frequency of alpha-thalassaemia has been underestimated in mediterranean and African countries. The inherited resistance to Plasmodium falciparum in the sickle cell disorders and thalassaemia has been elucidated to a large extent. The heterogeneity of alpha- and beta-thalassaemia has been investigated at the molecular level of the globin genes. Clinical management with repeated blood transfusions and regular iron chelation has markedly improved life expectation of the patient with thalassaemia major. Screening and educational programmes on a large scale in combination with facilities for genetic counselling, prenatal diagnosis and therapeutic abortion have already reduced the incidence of serious haemoglobinopathies in several developed countries. However, these methods will not be available for the population of developing areas until these countries reach a generally higher level, both economically and socially.

Africa↗
PubMed1984

Erythrocyte pyruvate kinase deficiency: characterization of a new variant (PK "Aarau").

A new PK variant with moderate hemolytic anemia is described. The enzymes of the nonanemic parents show sigmoidal reaction kinetics, with normal kinetic parameters, but differ with respect to nucleotide specificity, thermostability, and the concentrations of the glycolytic intermediates in the erythrocytes. The most characteristic features of the patient's (daughter) enzyme are a 30% activity, hyperbolic reaction kinetics and only two bands in the SDS-gel electrophoresis instead of three bands observed with the parental enzymes. Moreover, the pH-optimum is shifted to the acidic range, the affinity for PEP and ADP is decreased, ATP inhibition is negligible and FDP-activation is roughly ten times smaller than with controls. The concentrations of 2,3-DPG, 2-PG and PEP in the erythrocyte are increased, but ATP decreased. As there is no consanguinity in the parents and their enzymes are different this PK mutant can be considered to be compound-heterozygous for two different mutant PK alleles.

Adenosine Triphosphate↗
PubMed1984

Oxygen affinity of erythrocytes and pulmonary gas exchange in patients on continuous ambulatory peritoneal dialysis.

In 11 patients on continuous ambulatory peritoneal dialysis 2,3-diphosphoglycerate, oxygen (O2) affinity of red cells (P50), blood gases, ventilation, and O2 consumption were studied. Contrary to patients on maintenance hemodialysis, 2,3-diphosphoglycerate and P50 were normal in patients on continuous ambulatory peritoneal dialysis; they were correlated with each other. Arterial O2 pressure was normal; under the conditions of dialysis with 35 mmol lactate per liter dialysis fluid a slight metabolic acidosis persisted; it was combined with a moderate respiratory alkalosis. Position had no influence upon pulmonary gas exchange with the exception of the alveolo-arterial gradient which was elevated when the abdominal cavity was filled with dialysis fluid and the patients assumed the supine position. Ventilation was in the normal range, whereas O2 consumption was low, possibly due to a reduction in muscle mass in some of the patients. It is concluded that pulmonary gas exchange and erythrocyte O2 transport were normal and that O2 requirements tended to be low in this group of patients on continuous ambulatory peritoneal dialysis.

2,3-Diphosphoglycerate↗
PubMed1983

[Simple procedures for the determination of hemoglobin F and hemoglobin A2: radial immunodiffusion and column chromatography with commercial kits].

Two commercially available laboratory kits for the determination of HbF and HbA2 with radial immunodiffusion and chromatography in microcolumns have been compared with standard methods. The two kits can be recommended for diagnostic routine laboratories. They are easy to perform and the results were found to be in excellent agreement with those of the alkali denaturation method and electrophoresis with elution of HbA2. The two kits are time-saving, although the reagents and other materials are more expensive.

Chromatography↗
PubMed1983

[Automatic blood smear differentiation using the Coulter Electronics Diff 3-50 system].

The Coulter Electronics Diff 3-50 consists of a slide spinner, a slide stainer and a cell classifier. The cell analyzer is composed of an optical system with a microscope, microprocessor, video camera and printer. The system used in this laboratory is supplemented by a video monitor. The Diff 3-50 analyzes blood cells according to the classical criteria used in hematology. It classifies 11 types of nucleated blood cells and it processes an average of 45 blood smears per hour. It features a visual control of each cell classified with a built-in mechanism for change of classification by the operator if necessary. Moreover, the system estimates leukocyte and platelet count and generates a quantitative estimate of platelet number. Blood smears of 507 blood samples from patients admitted to the hospital were included in the present study. They were analyzed twice, first by the Diff 3-50, and secondly by visual checking of the automatic classification of each cell. The results of the two procedures were then compared. The findings indicate an overall false negative error of 1.4% and an overall false positive error of 4.3%. Major differences were found, though not consistently, only when the classification by the Diff 3-50 of the band neutrophils was compared with the visual classification performed by the operator. Lymphocytes and monocytes correlated well when both procedures were compared. Blasts present in 5 blood smears were recognized by the classifier. The Diff 3-50 identified immature granulocytes in 47 out of 48 cases.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Cell Count↗
PubMed1983

[Plasmapheresis treatment in multiple myeloma with kidney insufficiency].

Two patients with multiple myeloma and renal insufficiency are described. In both cases free lambda-chains were demonstrated in blood and urine. Plasmapheresis induced a marked reduction of lambda-chains in both patients. In one patient, a 63 year old man, oliguria ceased but renal function remained impaired and required treatment with longterm hemodialysis. The patient died after 6 1/2 months from sudden circulatory failure. In the second patient, a 68 year old woman, renal function was recovered sufficiently to enable hemodialysis to be stopped. Plasmapheresis may efficiently lower the paraprotein concentration in plasma and bring about improvement of renal function, at least in certain cases. However, treatment should be started before the terminal oliguric stage of renal insufficiency has been reached.

Aged↗