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Biomedical subjects

M Seip

Publications and source records attributed to M Seip.

At least 73 records · Page 4Linked to original sources
PubMed1976

Growth retardation, dysmorphic facies and minor malformations following massive exposure to phenobarbitone in utero.

A syndrome of facial dysmorphism, pre- and postnatal growth deficiency, developmental delay and minor malformations is described in two siblings. The facial anomalies consist of short nose with low nasal bridge, hypertelorism, epicanthic folds, ptosis of eyelid (patient 2), lowset ears, wide mouth with protruding lips and relative prognathism. Patient 2 in addition had a cleft soft palate and a hypoplastic phalanx of his fifth fingers. Both siblings were exposed to extraordinary high levels of phenobarbitone (5.0-8.6 mg/100 ml) in utero. The same clinical picture has been reported by others following use of phenytoin in pregnancy, and the term "fetal hydantoin syndrome" has been proposed. Since the syndrome seems to occur both following exposure to phenytoin and to phenobarbital this term should probably be avoided. This interesting coincidence indicates that the drugs may have a similar mechanism of action on the development of the fetus.

Abnormalities, Drug-Induced↗
PubMed1975

Amino acid concentrations in plasma and erythrocytes in aregeneratory and haemolytic anaemias.

The concentrations of unbound amino acids in erythrocytes and in plasma from 7 normal individuals, 11 patients with various types of aregeneratory anaemia, and 4 patients with hereditary haemolytic anaemias were determined on a Technicon Amino Acid Analyzer (Perry et al 1970). Most amino acids were normally found in higher concentrations in plasma than intracellularly. Cystine, methionine and trypotophan were almost exclusively present in plasma. Aspartic acid, however, was mainly found in erythrocytes, and glutathione only in erythrocytes. Glutamic acid and ornithine were more concentrated in the cells, while glycine and asparagine showed approximately the same concentrations in erythrocytes as in plasma. In the patients, plasma amino acids showed little deviations from normal, but in the erythrocytes there were striking changes. Erythrocyte glutamic acid concentrations were moderately to markedly elevated in all patients studied, and glycine concentrations in 13 out of 15 patients. In addition, the following amino acids were increased intracellularly in more than one patient: glutamine (8 patients), serine (7), asparagine (5), threonine (4), taurine (3), alanine (2), valine (2), ornithine (2), lysine (2), citrulline (2). Aspartic acid was decreased in erythrocytes from 4 patients with aregeneratory and 1 with haemolytic anaemia.

Adolescent↗
PubMed1975

Congenital dyserythropoietic anaemia with features of both type I and TYPE II.

A 13 year old girl with the typical clinical and haematological picture of congenital dyserythropoietic anaemia (CDA) is reported. The bone marrow is highly cellular with 70 per cent erythroid cells, and 28% bi- and multinuclear cells among the orthochromatic and polychromatic erythroblasts. Moderate megaloblastoid changes are present. On light microscopy the findings are in agreement with those described in CDA type II. On electron microscopy both the cytoplasmatic changes described as typical of CDA type II, and the nuclear changes found in type I can be demonstrated. The acidified serum test (Ham test) is negative with normal sera. The patient's red blood cells show increased agglutinability with anti-I and and anti-I antibodies, but no haemolysis. Total serum lipids are about 50% of the normal average. All lipoprotein classes are lowered to about the same extent. The total phospholipid content of the erythrocytes is slightly reduced, with a moderate, relative increase of the lecithin fraction and a decrease of the sphingomyelin fraction. Doubts can be raised about the tenability of the current classification of CDA based on morphological and serological criteria, especially about the distinction between types I and II.

Adolescent↗
PubMed1975

The effect of various therapeutic trials on the prophyrin excretion in a case of congenital erythropoietic prophyria.

A patient with a biochemically "new" type of congenital erythropoietic porphyria has been studied under various therapeutic trials. Splenectomy had no demonstrable effect on porphyrin excretion or clinical picture. Vitamin E caused a moderate fall in porphyrin excretion, however, there was no significant improvement in light tolerance and tendency to hemolysis. Beta-carotene reduced skin photosensitivity appreciably, while total porphyrin excretion remained unchanged and the tendency to develop hemolytic anemia showed only slight improvement. Red cell transfusion caused a rapid, dramatic fall in prophyrin excretion (in 4-5 days) and a transient increase in light tolerance, while the distribution of the different porphyrins excreted remained unchanged. These observations indicate that all or nearly the abnormal porphyrins excreted are of erythropoietic origin, and that the overwhelming part of the porphyrins originate from an abnormal population of shortlived red cells. Findings on fluorescence microscopy of blood and bone marrow support this view. Meticulous protection against light of the shorter wavelengths caused a similar rise in hemoglobin level as produced by red cell transfusion, however, in this instance the total excretion of porphyrins did not fall. It is suggested that the inhibitory effect of transfusion on erythropoiesis (and thereby porphyrin excretion) might be due partly to a depression of erythropoietin formation, partly to the presence of an erythropoiesis inhibiting factor (chalone) in the transfused red cells.

Blood Transfusion↗