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Biomedical subjects

T Kivimäki

Publications and source records attributed to T Kivimäki.

17 recordsLinked to original sources

Evolution of epilepsy in children with mental retardation: five-year experience in 78 cases.

Various aspects of epilepsy, including its evolution, were studied in 78 children with mental retardation in a prospective 5-year (1989-1994) follow-up study. Level of mental retardation was moderate or even more severe (IQ < 50) in 83% of children, and 56% suffered from significant cerebral palsy. Epilepsy remained uncontrolled in 28% of cases, 2-year remission was achieved by 26%, and mortality was 12% during the study period. Associated cerebral palsy was the most important single risk factor for severe epilepsy, and several handicaps seemed to have a strong multiplicative effect. Complexity of epilepsy in children with mental retardation was reflected by the evolutionary features described.

Age of Onset↗

Effects of long-term running on spinal mineral content in dogs.

The effects of long-term running were studied in 20 beagle dogs. Ten dogs ran from the age of 15 weeks to the age of 70 weeks in a progressive program for up to 40 km/day. Ten sister dogs spent the same time in individual cages. At the age of 70 weeks the spines of the dogs were studied with regard to mineral density using dual-energy X-ray absorptiometry and quantitative computed tomography. Mineral density was lower in the running dogs than in the controls.

Animals↗

Down's syndrome and atherosclerosis.

Necropsy findings in patients with Down's syndrome have suggested an absence of atherosclerosis throughout the cardiovascular system, but there are also contradictory results. We compared the left coronary arteries of 15 institutionalised Down's syndrome patients (5 males, 10 females, mean age 51 years) with those of 6 other institutionalised mentally retarded patients (4 males, 2 females, mean age 49) and 20 normal, free-living subjects (10 males, 10 females, mean age 48) by macroscopic inspection of the opened coronary arteries and by biochemical analysis of their intima-media. The arteries of Down patients contained a lower percentage of raised lesions and less calcium than the arteries of the control groups. Thus, even though the coronary arteries of mongoloids were not completely free of atherosclerosis, it was milder than in other mental patients and free-living subjects of the same age.

Adult↗

Urinary glycosaminoglycans in aspartylglycosaminuria: evidence for disturbed proteoglycan metabolism.

An abnormal excretion pattern of urinary glycosaminoglycans was found in patients with aspartylglycosaminuria, a lysosomal storage disorder of glycoprotein metabolism. The mean daily GAG excretion, measured as uronic acids, was within the reference range, though higher than that of matched controls. However, in AGU patients fractionation of isolated urinary glycosaminoglycans revealed markedly increased proportions of heparan sulfate which were nearly 50% of the total glycosaminoglycans. The changes observed in glycosaminoglycan excretion reflect abnormalities of proteoglycan metabolism. They offer further evidence for the presence of a generalized connective tissue disorder in aspartylglycosaminuria. Increase of heparan sulfate may also refer to abnormalities of glycosaminoglycan metabolism in the central nervous system with a possible role in the neurological manifestations of the disorder.

Acetylglucosamine↗

Metabolism of collagen in aspartylglycosaminuria: urinary excretion of hydroxyproline.

Aspartylglycosaminuria (AGU) is a lysosomal storage disorder of glycoprotein degradation characterized by severe mental retardation and connective tissue alterations. We have previously described low collagen production in skin fibroblast cultures from AGU patients. In the present work we showed that the urinary excretion of hydroxyproline (total, non-dialysable and free hydroxyproline as indicators of collagen metabolism) was reduced in young AGU patients in comparison with age-matched controls. In adult patients no significant difference was detected. The results support the view that reduced collagen production is associated with the connective tissue abnormalities in this disorder.

Acetylglucosamine↗

Comparison of iohexol and metrizamide in dynamic CT of the upper abdomen.

Contrast enhancement (CE) of the aorta, liver and spleen obtained with non-ionic monomer of contrast media (CM) iohexol and metrizamide, was studied by dynamic computerized tomography in 18 and 14 patients, respectively. Six scans per minute were performed during 2 minutes and then single scans were taken at 3, 4 and 5 minutes after intravenous bolus doses of 18.5 g iodine. The mean CE and the pattern of washout with these two CM were similar in spite of their different molecular structure and physiochemical properties.

Aortography↗

Abnormal collagen fibrils in aspartylglycosaminuria. Altered dermal ultrastructure in a glycoprotein storage disorder.

Patients with aspartylglycosaminuria, a lysosomal storage disorder of glycoprotein degradation, express connective tissue signs that refer to impaired mechanical properties of the tissue. We studied the ultrastructure of the dermis of patients with aspartylglycosaminuria to detect possible alterations in the connective tissue matrix, alterations that could explain the clinical findings. The organization of fiber bundles was studied by light microscopy and scanning electron microscopy, and diameters and volume densities of individual collagen fibrils were measured. The histologic organization of the dermis in patients with aspartylglycosaminuria was normal. However, by scanning electron microscopy a looser organization and more irregular orientation of the fiber bundles were detected. Transmission electron microscopy revealed a strikingly abnormal variation in the diameters of individual collagen fibrils (from 20 to 160 nm) in all layers of the dermis, with slight irregularity of shape especially in the thickest fibrils. Occasional giant fibrils (greater than 200 nm) were observed. The distribution of the ruthenium red-positive material around the fibrils was normal. Ultrastructural changes similar to these have been found in the collagen fibrils of some patients with Ehlers-Danlos syndrome as well as certain other disorders affecting dermal connective tissue. Altered collagen fibril formation offers an explanation for the connective tissue lesions in aspartylglycosaminuria.

Acetylglucosamine↗

Dynamic topography of the contrast enhancement of the spleen.

Topographic variations of the contrast enhancement (CE) with time were studied in 74 dynamic CT scans of the spleen. After an 8-10 second bolus of urographic contrast medium containing 18.5 g. iodine, six scans per minute were done through the same section for two minutes, and single scan at 3, 4 and 5 minutes with a scanning time of 5.5 seconds. Early inhomogeneous CE of the normal spleen appearing 0-20 seconds after the peak CE of the aorta was found in 38 of 70 patients due to inhomogeneous parenchymal opacification (capillary phase) (19), delayed opacification of intrasplenic veins (8) or both (10) or due to other causes (1). Inhomogeneous CE in normal structures disappeared after 40 seconds from the aortic peak CE had elapsed, while all four pathological focal splenic lesions of different histology appeared as low density areas in postcontrast scans up to four minutes.

Adult↗

Neuroleptic treatment of oligophrenic patients. A double-blind clinical multicentre trial of cis(Z)-clopenthixol and haloperidol.

One hundred mentally retarded patients from five Finnish institutions took part in a double-blind, double-dummy 12-week trial assessing the therapeutic effect of cis(Z)-clopenthixol and haloperidol. Assessments including CGI by psychiatrists and ward personnel as well as a 4-item target symptom scale was done at weeks 0, 4, 8, and 12. Improvement was registered by the psychiatrists in 16, 21, and 24 cis(Z)-clopenthixol patients and in 11, 6, and 7 haloperidol patients at weeks 4, 8, and 12, respectively--the difference between the two drugs being significant at weeks 8 and 12. The ratings of CGI by the personnel and the 4-item scale by the psychiatrists showed less improvements and no significant differences between the two drugs. While the overall impression of interference of patients' functioning by side-effects were in the favour of haloperidol the number of single side effects increased more with haloperidol than with cis(Z)-clopenthixol during the 12 weeks. Average doses administered at week 12 were 34 mg cis(Z)-clopenthixol and 5 mg haloperidol.

Adult↗

Plasma lipids and lipoproteins in Down's syndrome.

Since mongoloids have been reported to differ from other patients with mental retardation by being virtually free of atheromatosis, we analysed plasma lipids and lipoproteins in twenty mongoloid and in twenty age-matched non-mongoloid mentally retarded patients living in the same institution. Plasma total cholesterol in the mongoloids did not differ significantly from that of the control group, but it was low in both groups in comparison with the Finnish population in general. Plasma total triglyceride concentration was higher (P less than 0.01) in the mongoloids than in the controls. This was reflected in higher VLDL-triglyceride and-cholesterol concentrations in the mongoloids. Plasma apolipoprotein B levels were higher (P less than 0.05) and the ratio of apolipoprotein A-1 to apolipoprotein B was lower (less than 0.05) in the mongoloids. The plasma lipid concentrations were in accordance with the significantly higher relative body weights in the mongoloid group. Blood pressure was slightly but significantly lower and cigarette smoking was less common in patients with Down's syndrome. Our results did not explain the reported lower frequency of atheromatosis in Down's syndrome.

Adolescent↗

Free trisomy 9P in elderly woman.

The karyotype 47,XX,+9p was observed in a 50-year-old mentally retarded woman with dysmorphic facies, severe cerebral malformations, limb deformities, retarded sexual maturation and deviating dermatoglyphs. Banding analysis showed the extra chromosome to be composed of 9p and the proximal part of 9q comprising a large secondary constriction. The breakage point is estimated as 9q13. Hemozygous large C bands were observed in both chromosomes No. 9 as well as in the extra chromosome. Clinically this case can be regarded as a pure 9p trisomy. The mechanism causing the syndrome is thought to be malsegregation of a deleted chromosome No. 9.

Abnormalities, Multiple↗

[Sanfilippo's syndrome].

Explore the source record for details and available documents.

Carbohydrate Metabolism, Inborn Errors↗

Dynamic contrast enhancement of the upper abdomen: effect of contrast medium and body weight.

Contrast enhancement (CE) of the aorta, liver, and spleen was studied in dynamic body computed tomography (CT) in 71 patients. Four contrast media (CM) (diatrizoate, ioxithalamate, ioxaglate, iopamidol) were injected intravenously in equal bolus doses of 18.5 g iodine. Iopamidol produced the highest average peak and 2-minute aortic CE, significantly different from ioxithalamate (P less than 0.001), diatrizoate (P less than 0.01), and ioxaglate (P less than 0.0125) at peak levels. Two-minute CE values of the aorta were highest with iopamidol as were peak and 2 minute CE of the liver and spleen. A linear, inverse relationship between body weight and CE was present both at peak CE and after 2 minutes in all tissues. The nonionic CM appear to have best dose efficiency in the vascular phase of dynamic CT. These results are also applicable to digital angiography. Differences in the CE of parenchymal organs with different CM are so small that they are unlikely to have clinical significance.

Aortography↗