Biomedical subjects
Publications and source records attributed to K H Gustavson.
The activity of platelet monoamine oxidase in Down's syndrome cases was significantly lower than that of controls. This difference was found for both males and females, and with tyramine, tryptamine and beta-phenethylamine as substrate. The Km values of the monoamine oxidase towards tryptamine as substrate from controls and Down's syndrome patients were similar.
In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a karyotype 46,XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46,XX, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.
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A human foetus was heavily irradiated in the thirtieth to the thirty-third week due to carcinoma of the uterine cervix of the mother. Irradiation after 20 weeks of pregnancy is thought not to produce severe abnormalities. However, the child showed microcephaly, mental retardation, stunted growth, microphthalmus, retinal degeneration, cataract and defective dentition. Cytogenetically the frequencies of both chromatid and chromosome breaks were increased.
Serum zinc and serum copper were examined in 18 patients with the Sjögren-Larsson syndrome (congenital ichthyosis, spastic di- or tetraplegia and mental retardation), in four patients with congenital ichthyosis and mental retardation, of whom three had alopecia, and in nine healthy controls. No indication of disturbed zinc or copper metabolism in these groups of patients was found.
In an epidemiological investigtion of mental retardation in the county of Västerbotten in Sweden the mother of five severely mentally retarded children was found to have untreated phenylketonuria (PKU). None of the children had PKU. The maternal PKU may have been a cause of the mental retardation, retarded intrauterine growth and different types of malformations. There is now an increasing number of girls with PKU in whom dietary treatment has been carried out and already withdrawn. These girls require thorought information on the high risk of serious fetal damage before they become pregnant. Dietary treatment should be introduced before any conception.
Severe neurological symptoms, including intermittent ataxia, hallucinations and convulsions, associated with metabolic acidosis and branched-chain amino-acidemia occurred in a six-year-old girl with a variant form of maple syrup urine disease. The symptoms only appeared during periods of infection. Between these periods the girl was healthy and the biochemical findings were normal. In later episodes of infection the condition was successfully treated with a low protein diet and sodium bicarbonate. Analyses of 1-14C-leucine decarboxylase in fibroblasts revealed 10 per cent of normal activity in the girl and 50-70 per cent in the parents. The importance of early diagnosis of MSUD variants is discussed. This is the first published Swedish case of MSUD variant.
The finger- and palm dermal-ridge patterns of all Swedish cases with the Sjögren-Larsson syndrome (SLS) were studied. The dermatoglyphic patterns of the SLS material showed variations from the normal material. This indicates an early prenatal pathological influence on the formation of dermatoglyphics in SLS.
Low levels of zinc in serum and high in blood clots were found in 12 patients with Down's syndrome (DS). They also had an immune deficiency characterized by depressed neutrophil chemotaxis, skin hypersensitivity and lymphocyte responsiveness to PHA in vitro. The patients received zinc sulphate, corresponding to 135 mg Zn++ daily. After treatment for 2 months' serum zinc levels had increased, neutrophil chemotactic responsiveness was normal in 11 of the 12 patients and there were improved lymphocyte responses to high doses of PHA in vitro. Delayed skin reactivity to DNCB was also improved in 10 of 11 patients after zinc therapy. Zinc deficiency may in part explain the increased susceptibility to infection in DS.
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In previous study we found that clavicular lesions in chronic recurrent multifocal osteomyelitis (CRMO) in young patients was associated with palmoplantar pustulosis (PPP). In this work the relationship between sternoclavicular lesions and PPP was studied in a group of adult patients. The sternoclavicular region of 52 patients with PPP and 25 control persons was examined by tomography. Among the PPP patients there were inflammatory lesions in the sternal synchondroses in 3 patients. There were no such lesions in the controls. In this unselected population of adult patients there was thus no definite association between PPP and sterno-clavicular lesions. In young patients on the other hand, CRMO with clavicular lesions may be another, probably noninfectious, cause of PPP.
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Two sibs with identical features of short-limbed dwarfism, a normal skull and face and normal intelligence are described. On the basis of the radiological and clinical characteristics the condition must be included within the group of spondylometaphyseal dysplasias. In contrast to the familial cases described up to now in which the mode of inheritance was autosomal dominant, the trait in the two children described here was transmitted as an autosomal recessive.
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