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Biomedical subjects

A Ruokonen

Publications and source records attributed to A Ruokonen.

At least 91 records · Page 5Linked to original sources

Gastric mucosal erosions. An endoscopic, histological, and functional study.

Gastric erosions were detected in 404 patients in an elective gastroscopic series of 3837 patients. One hundred and seventeen patients with predominant erosion findings were examined in detail, and the results compared with those of age- and sex-matched controls. No difference was observed between patients and controls with regard to antral and body gastritis. The complete (type I) erosions were different from the other erosion types. They were more often located in the body mucosa (p less than 0.001), and foveolar hyperplasia (p less than 0.025) and hyperplastic polyps (p less than 0.01) and characteristics of A gastritis in the surrounding mucosa were common. The erosion patients had a higher acid secretion capacity than the corresponding controls (p less than 0.005), but with regard to the type of erosion, only the patients with incomplete (type IIb) erosions differed statistically significantly from the corresponding controls (p less than 0.005).

Adult↗

Propionic acidaemia. First case in the Finnish population.

Propionic acidaemia is a defect of propionyl-CoA-carboxylase activity characterized by urinary excretion of propionic acid, its metabolites and hyperglycinaemia. The clinical picture of this autosomally, recessively inherited disorder, which has been reported in the literature in 63 patients varies from overwhelming metabolic crisis in the neonate to an almost asymptomatic disease responding to protein restriction and biotin supplementation. The first Finnish patient with propionic acidaemia had a severe type of disease with neonatal onset simulating nonketotic hyperglycinaemia. In spite of protein restriction and biotin supplementation this infant developed progressive psychomotor retardation and died of intercurrent infection at the age of 8.5 months. The definite, correct diagnosis was not reached until a severe infection occurred, during which the pathognomonic organic aciduria manifested. This delay in the diagnosis illustrates the importance of performing the analysis of urinary excretion of organic acids during stress situations, such as infections, since the metabolic block may be undetectable under normal conditions.

Amino Acid Metabolism, Inborn Errors↗

Effects of two oral contraceptive combinations, 0.125 mg desogestrel + 0.050 mg ethinylestradiol and 0.125 mg levonorgestrel + 0.050 mg ethinylestradiol on the adrenal function of healthy female volunteers.

The effects of the oral contraceptive combinations of 0.125 mg desogestrel + 0.050 mg ethinylestradiol (EE), and of 0.125 mg levonorgestrel + 0.050 mg EE on serum cortisol and the urinary excretion of 17-oxogenic steroids and free cortisol were studied in 16 healthy females. Adrenal responsiveness was studied by the metyrapone test. Both contraceptive combinations increased (P less than 0.001) serum cortisol concentrations but the rhythmic fluctuation at different times of the day remained unchanged. The urinary excretion of 17-oxogenic steroids was lower (P less than 0.01) during treatment than before or after treatment with both contraceptive combinations. The metyrapone test showed normal adrenal responsiveness during the treatment cycles. The urinary excretion of free cortisol was unchanged when desogestrel + EE was used, but increased (P less than 0.01) during treatment with levonorgestrel + EE. However, even then, the urinary free cortisol was within the normal range of the population. All the test results of hormone determinations normalized soon after finishing the contraceptive treatments. It is suggested that the abnormalities seen were due to an increased serum binding capacity of cortisol induced by EE and not a sign of pathological changes in adrenal function. No major differences in the biological effects of the two combinations tested were seen.

17-Hydroxycorticosteroids↗

Screening of bacteria in urine using luciferin-luciferase assay of microbial ATP: a comparative study.

A total of 3227 urine specimens were analysed to investigate the applicability of a firefly luciferase assay of microbial adenosine triphosphate (ATP) for the rapid screening of bacteriuria in clinical specimens. Urine sediment, dipslide culture, and three plate cultures were also investigated in the majority of the urine specimens, the plate cultures serving as the reference. Of the specimens with positive plate culture (greater than or equal to 10(5) colony forming units (CFU)), leucocyte content of the spun urine sediment was negative (less than or equal to 4 cells per high-power field) in 34% and bacterial content was negative in 14% (no bacteria seen microscopically); the dipslide test was negative (less than 10(5) CFU) in 16%, and the luminescence assay of ATP in 7% (less than or equal to 500 relative light units). Of the urine specimens forming less than 10(5) CFU on plate cultures, leucocytes were positive in 15%, spun sediment bacteria in 21%, the dipslide test in 0.5%, and the luminescence assay of ATP in 11%. When used as a screening test for further studies by complete culture techniques, the luminescence assay of microbial ATP can improve the rapid diagnosis of urinary tract infections.

Adenosine Triphosphate↗

Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation.

Argininosuccinic aciduria (ASA-uria) is a rare inborn error of the urea cycle, in which there is massive excretion of argininosuccinic acid (ASA) in the urine together with elevated concentrations of ASA in the plasma and the CSF. The characteristic symptoms are either those of overwhelming metabolic disease in the newborn period, or variable psychomotor retardation. The present patient, the first Finnish one to be reported, was a 49-year-old woman. She was hospitalized at the age of 26 with a diagnosis schizophrenia and mental retardation. Her clinical symptoms consisted of ataxia, disturbance of coordination, clumsiness, intention treMor and a positive Romberg's sign. The laboratory findings were consistent with the mild, late-onset type of ASA-uria.

Amino Acid Metabolism, Inborn Errors↗

Postnatal development and sex differences in hepatic phosphatidate phosphohydrolase activity in the rat.

The mechanism leading to the difference in hepatic triacylglycerol metabolism between female and male rats was investigated by studying the ontogeny of hepatic soluble phosphatidate phosphohydrolase activity in feeding animals of both sexes. A sevenfold increase occurred within 12 hr of birth, returning to the adult level during the third postnatal day. The changes in enzyme activity were followed by similar changes in hepatic triacylglycerol concentrations. A sex difference was observed only in the adult rats, where the enzyme activity in the livers of feeding female rats was about 25% higher than that in the feeding males. The effects of gonadectomy and sex steroids were studied in a separate series of experiments on fasting animals. The activity of the soluble enzyme was 65% higher in the intact female rats than in the males, and that of the microsomal enzyme 130% higher. The activity ratio between the soluble and microsomal enzyme in the male rats was 4.3 on a liver wet weight basis with the methods used. Gonadectomy increased the soluble and microsomal activities by 25% and 80% respectively within 6 wk in the male rats. The soluble and microsomal activities were still at the same control levels 2 wk after the gonadectomy, the subcutaneous implants of testosterone or estradiol resulting in 10-fold increases in plasma hormone levels had no effects on these enzyme activities, although testosterone caused 50% decrease in the hepatic triacylglycerol concentration. These data indicate that, if hormonally mediated, the postnatal increase in phosphatidate phosphohydrolase activities is not related to sex steroids and also suggest that the basis of the sex difference in hepatic soluble phosphatidate phosphohydrolase activity remains to be established.

Aging↗

Steroid sulphatase activity in the skin biopsies of various types of ichthyosis.

A simple method was developed for the determination of steroid sulphatase activity in a skin biopsy for routine use. In this method, 6 mg of minced tissue is incubated in 1 ml of Krebs-Ringer bicarbonate buffer with radioactive dehydroepiandrosterone sulphate (20,000 c.p.m., S.A. 1.1 Ci/mmol) for 4 h. After the incubation the liberated unconjugated dehydroepiandrosterone and its possible metabolites are separated from the conjugated compound by extraction with ethyl acetate-ethyl ether 10:90 (v/v). The organic phase is counted in a scintillation counter. The results are expressed as c.p.m. values per 6 mg tissue wet weight. Steroid sulphatase activity was measured in skin biopsies from nine control subjects and from thirteen patients with various types of ichthyosis. In the different groups studied, the ranges of the c.p.m. values were as follows: controls (n = 9) 377-1802; X-linked ichthyosis (n = 5) 140-214; ichthyosis vulgaris (n = 5) 607-1320; ichthyosiform erythroderma (n = 2) 2146-2214; lamellar ichthyosis (n = 1) 2185. The reagent blank varied from 180 to 259 c.p.m. In X-linked ichthyosis the c.p.m. values were always less than in the corresponding reagent blank, indicating that no enzyme activity was present in the tissue. In other types of ichthyosis, steroid sulphatase activity was normal. The method described is easy to accomplish in any clinical laboratory where scintillation counting is possible.

Female↗

Serum steroid sulphates in ichthyosis.

Serum concentrations of pregnenolone sulphate, dehydroepiandrosterone sulphate and 5-androstene-3 beta,17 beta-diol sulphate were measured by radioimmunoassays in twelve patients with various types of ichthyosis. In X-linked ichthyosis (n = 5), ichthyosis vulgaris (n = 5) and lamellar ichthyosis (n = 1), steroid sulphates were not significantly higher than in the control subjects. In one baby with ichthyosiform erythroderma and associated deafness serum 5 -androstene-3 beta,17 beta-diol sulphate concentration was about 60 fold higher (31 microgram/ml) than the mean of the control children. The other steroid sulphate levels were normal in this baby. These results indicate that it is not possible to demonstrate the steroid sulphatase deficiency in X-linked ichthyosis by determining blood steroid sulphates. The cause of the high 5-androstene-3 beta,17 beta-diol sulphate concentration in the baby with ichthyosiform erythroderma needs further evaluation.

Adolescent↗

A congenital ichthyosiform syndrome with deafness and elevated serum steroid disulphate levels.

This is a report on a child with a syndrome characterized by an extensive congenital ichthyosiform eruption, neurosensory deafness and abnormally elevated serum steroid disulfates neonatally. When analysed by gas-liquid chromatography (glc) and gas chromatography-mass spectrometry (gc-ms) the following serum steroid disulfates were very high 5 days after birth: 5-androstene-3 beta,17 alpha-diol (56 micrograms/ml), 5-androstene-3 beta,17 beta-diol (25 micrograms/ml) and 5-pregnene-3 beta,20 alpha-diol (26 micrograms/ml). The values are about one hundred times higher than the reference values at this age. At the same time serum steroid monosulphate concentrations were normal. The patient had normal steroid sulfatase activity in skin biopsies, indicating that enzyme deficiency was not the reason for the high steroid disulfate concentrations. When serum steroid disulphatases were next analysed at 16 months of age they were normal. No hepatomegaly was observed but the other laboratory data support the hypothesis that the serum steroid disulphate concentrations were due to neonatal hepatography. Later, no indications of chronic liver disease were observed. These indications have not been described earlier in ichthyosiform erythrodermia and it is possible that the patient represents a new type of this rare disease.

Androstenediol↗

The simultaneous radioimmunoassay of seven steroids in human spermatic and peripheral venous blood.

Seven unconjugated neutral steroids, including testosterone and some of its precursors and metabolites, were measured in the peripheral and spermatic venous blood males, employing specific radioimmunoassays after the fractionation of steroids on Lipidex-5000 (hydroxyalkoxypropyl Sephadex) microcolumns. Respective mean concentrations (ng/ml) and ranges of steroids estimated in peripheral and spermatic venous blood in all groups of patients were as follows: pregnenolone, 0.71 (0.29-2.39) and 10.97 (0.83-30.1); progesterone, 0.31 (0.02-0.57) and 10.17 (1.51-33.24); 17 alpha-hydroxyprogesterone, 1.04 (0.48-2.20) and 37.33 (1.68-141.00); androstenedione, 1.01 (0.26-2.65) and 11.87 (0.97-30.18); testosterone, 3.84 (0.63-10.64) and 255.1 (2.85-619.1); 5alpha-dihydrotestosterone, 0.19 (0.07-0.28) and 3.74 (0.04-9.71); androsterone, 0.27 (0.12-0.47) and 0.97 (0.20-2.15). Concentrations are similar to those estimated by mass spectrometry and protein binding assays, except for androsterone which has not previously been measured in this context. The low, but significant testicular secretion of both 5alpha-hydrotestosterone and androsterone suggests that these two steroids are testicular androgen metabolites, and that androgen metabolism in this tissue may be monitored by way of their measurement in spermatic vein blood.

Adult↗