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Biomedical subjects

O Stokke

Publications and source records attributed to O Stokke.

At least 91 records · Page 5Linked to original sources
PubMed1979

A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria.

A new case of assumed beta-ketothiolase deficiency, excreting 2-methyl-3-hydroxybutyrate and tiglylglycine is described in a 15-year-old boy. The patient presented with episodes of metabolic acidosis following intercurrent infections in the early childhood. After the age of 7 years he has had periods of headache, but no acidotic episodes have occurred even during infections. Systematic dietary treatment has not been instituted, and the patient is physically and mentally normal. This indicates a mild variant of the beta-ketothiolase deficiency. Diagnosis of the condition may be obscured by large quantities of ordinary ketone bodies, and requires gas chromatographic and mass spectrometric techniques.

Acetoacetates↗
PubMed1979

Congenital persistent proximal type renal tubular acidosis in two brothers.

Two brothers showed severe and persistent hyperchloraemic metabolic acidosis (capillary blood pH 7.07--7.15) due to a low renal bicarbonate threshold at 11 mmol/l. The maximal tubular capacity for bicarbonate reabsorption was reduced to about half the normal. A high dose of acetazolamide (25 mg/kg) lowered the tubular bicarbonate reabsorption substantially, indicating the presence of carbonic anhydrase. Both the glomerular filtration rate, the renal blood flow and the renal concentrating capacity were slightly reduced. The clinical characteristics were: growth retardation, mental retardation, nystagmus, corneal opacities, cataract, glaucoma and enamel defects of the permanent teeth. Serum thyroxine was pathological low without clinical signs of hypothyreosis. The erythrocytes showed an increased osmotic resistance. Autopsy of the younger brother, who died 4 1/2 years old, revealed thyroid and thymus weights of 25% of the normal. The kidney tubular cells were swollen with vacuoles. The glomeruli had a normal appearance.

Acetazolamide↗
PubMed1979

Moderate and extreme haemodilution in open-heart surgery: evaluation of haemolysis, cell damage and protein changes.

Clinical chemical data from patients operated upon in moderate and extreme haemodilution have been compared. Haemolysis was more pronounced during and after moderate dilution that in extreme dilution. A slight liver damage was found post-operatively after moderate dilution. Several changes were of about the same magnitude in both groups: Serum CK increased, reaching maximal activity 3-18 h after operation. An acute phase reaction of plasma proteins took place post-operatively, except that the concentration of complement C-3 dropped during the first days after operation. The serum levels of phosphate were positively correlated to several of the acute phase proteins.

Alanine Transaminase↗
PubMed1978

Monosaccharides and monosaccharide derivatives in human seminal plasma.

Gas chromatography--mass spectrometry with an on-line data system was used to identify monosaccharides and monosaccharide derivatives in human seminal plasma. The carbohydrates were converted into the methoxime-trimethylsilyl derivatives before separation in open tubular glass capillary columns coated with SE-30. Twenty-one different compounds were detected in the seminal fluid, of which twelve have not been recognized before. Seventeen of the monosaccharides have previously been identified in urine. Similar patterns of sugars were found both in fertile and infertile individuals, including one with azoospermia. The compounds identified are, with the possible exception of D-ribose, present as free monosaccharides at the time of ejaculation, and they do not seem to be preformed by spermatozoa.

Chromatography, Gas↗
PubMed1978

Chromatographic profile of high boiling point organic acids in human urine.

The profile of high boiling point organic acids in urine samples from both normal subjects and patients suspected of having some form of metabolic disorder has been determined by combined gas chromatography-mass spectrometry. Fifteen different compounds eluting after hippuric acid have been identified, including two, cinnamoylglycine and acetyltributylcitrate, which have not been recognised previously. Relative retention times and abbreviated mass spectra of the identified compounds are presented.

Acids↗
PubMed1978

Moderate and extreme hemodilution in open-heart surgery: fluid balance and acid-base studies.

Two groups of patients underwent aortic valve replacement. Fifteen patients received moderate hemodilution (mean hematocrit, 27%) with 40% donor blood in the priming solution. Extreme hemodilution was used in 14 patients (mean hematocrit, 18%) with a nonhemic prime and withdrawal of blood at the start of operation. Both groups were given more than 7 liters of fluid during operation; donor blood was primarily used in the moderately diluted patients, and Ringer's acetate was primarily given to the other group. The diuretic response to this fluid load was much more pronounced in the extreme than in the moderate hemodilution group. Eighteen hours postoperatively, patients in the moderate and extreme hemodilution groups had an excess of about 2 and 1.5 liters of water, respectively. In the patients who had moderate dilution an average of 1,000 ml of erythrocytes disappeared from circulation; no such disappearance could be found in the other group. The moderate group showed significantly lower arterial PO2 postoperatively than the extreme group. There were, however, no differences between the two groups in mixed venous PO2 during perfusion or in acid-base and osmolality values.

Acid-Base Equilibrium↗
PubMed1978

Cardiac surgery in extreme haemodilution without donor blood, blood products or artificial macromolecules.

A triple aorto-coronary vein bypass was performed in a 56-year-old Jehovah's Witness. Neither donor blood, albumin nor artificial macromolecules were used. Ten litres of non-haemic fluid were given during surgery and an additional 4 litres during the first 18 postoperative hours. During perfusion the haematocrit fell to 19 vol% and total protein in serum to 29 g/l. Eighteen hours after surgery, the patient was extubated without any signs of oedema and with a positive water balance of only 2.2 l. Diuretics were not given. Acid-base and electrolyte values were within normal limits both during and after operation. This and similar cases reported in the literature show that during extracorporeal circulation it is possible to reduce the concentrations of red cells and plasma proteins to below 40% of pre-operative values without serious complications.

Angina Pectoris↗
PubMed1977

Organic acid profiles of human tissue biopsies by capillary gas chromatography-mass spectrometry.

A method is described to determine the organic acid content of tissue specimens comparable in size to those obtainable by closed biopsy. The method involves solvent extraction of tissue homogenates followed by analysis of trimethylsilyl derivatives of the organic acids by combined capillary gas chromatography-mass spectrometry. Organic acid profiles of human liver, pancreas, kidney and muscle are shown.

Acids↗
PubMed1976

Application of glass capillary-column gas chromatography-mass spectrometry to the studies of human diseases.

Open-tubular glass capillary columns have been used in gas chromatography in combination with mass spectrometry (GC-MS) and computer methods to study human diseases. Patients with maple syrup urine disease excrete not only alpha-keto and alpha-hydroxy acids but also six other metabolites which hitherto have been overlooked. The GC-MS methods demonstrated that a group of patients suffering from hereditary progressive loss of hearing have an impaired metabolism of leucine, leading to the accumulation of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. GC using the capillary columns proved suitable for mapping of the carbohydrate profile of human seminal fluid and for the analyses of organic compounds accumulating in human adipose tissue. The high resolving power and long life of the glass capillary columns suggest that they will be valuable in the diagnosis and study of human disorders.

Adipose Tissue↗
PubMed1976

Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and beta-hydroxyglutarate: explanation of the symptoms in glutaric aciduria?

Glutaric aciduria is a disorcer of lysine, tryptophan, and hydroxylysine metabolism characterized by intermittent metabolic acidemia, dystonia, athetosis and mental retardation. It is due to a recessively inherited deficiency of glutaryl-CoA dehydrogeanse, the enzyme(s) which catalyze the dehydrogenation of glutaryl-CoA to glutaconyl-CoA and decarboxylation of the latter to crotonyl-CoA. Abnormal quantities of glutaric, beta-hydroxyglutaric, and glutaconic acids are found in the urine of these patients. The nature of the movement disorder prompted study of the effects of the abnormally excreted metabolites on brain glutamate decarboxylase, an enzyme implicated in the pathogenesis of Huntington's chorea. Glutamate decarboxylase activity was examined in rat and rabbit brain acetone powders, stabilized with pyridoxal phosphate and glutathione. Glutarate, beta-hydroxyglutarate, and glutaconate were competitive inhibitors of this emzyme, Ki values being 1.3 X 10(-3) mol/l, 2.5 X 10(-4) mol/l, respectively. This inhibition may explain the neurological accompaniments of this syndrome.

Amino Acid Metabolism, Inborn Errors↗