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Biomedical subjects

K H Gustavson

Publications and source records attributed to K H Gustavson.

At least 109 records · Page 6Linked to original sources
PubMed1985

The dysequilibrium syndrome: a study of the etiology and pathogenesis.

The optimality of prenatal and perinatal conditions, serum levels of radioreceptor-assayable somatomedins and activity of catechol-0-methyltransferase in erythrocytes were examined in 13 dysequilibrium (DES) patients. No differences from normal controls were found. As a group, the DES patients were not more exposed to non-optimal prenatal and perinatal events than healthy controls. No association between DES and somatomedin levels or between DES and catechol-0-methyltransferase activity was demonstrated.

Adolescent↗
PubMed1985

Effect of folic acid treatment in the fragile X syndrome.

The effect of folic acid intake on the frequency of fragile X positive cells and some behavioural characteristics were evaluated in 5 boys and 4 adult males with the fragile X syndrome. The expression of fragile X was nullified in 6 and decreased in 3 of the 9 patients. Behavioural and motor ability were considered to have improved in 4 of the 5 boys but not in the 4 adults with fragile X syndrome.

Adolescent↗
PubMed1985

Lethal and non-lethal diastrophic dysplasia. A study of 14 Swedish cases.

A clinical study was performed on 14 patients with diastrophic dysplasia (DD), including three pairs of sibs. Six of these patients, including two pairs of sibs, died shortly after birth of respiratory and circulatory insufficiency. We consider these six patients to represent a special lethal variant of DD. In all infants with the lethal variant of DD the birth weight was lower than in those with the non-lethal variant. There were also roentgenological differences between these two groups. Overlapping in joints and dislocation of the cervical spine were seen in all the lethal cases. In addition, four of the six patients with lethal DD cases had a congenital heart defect, and none in the non-lethal group.

Dwarfism↗
PubMed1985

Selenium supplementation in X-linked muscular dystrophy. Effects on erythrocyte and serum selenium and on erythrocyte glutathione peroxidase activity.

The selenium concentrations in serum and erythrocytes and the erythrocyte glutathione peroxidase activity were determined in 15 boys with the Duchenne type and in 5 boys with the Becker type of X-linked muscular dystrophy before and during long-term selenium and alpha-tocopherol supplementation and compared with values in unsupplemented controls. The purpose of the treatment was to improve the muscular strength. Twelve of the 20 patients had pretreatment levels of selenium in serum that were within the 95% confidence limit of the unsupplemented control children. The values in 2 patients, both with the Duchenne type of muscular dystrophy, fell below this level. Selenium supplementation in a daily dose of 6 micrograms/kg/day for 6 months caused a substantial rise in both serum and erythrocyte selenium, suggesting suboptimal pretreatment body contents of selenium. The greatest increases in both serum and erythrocyte selenium were observed in subjects with initially low selenium levels. Only in 4 of the 20 patients did the selenium supplementation result in a significant rise in erythrocyte glutathione peroxidase activity. As no sure improvement was noted in muscular strength during this treatment period, the Se dose was increased to 20 micrograms/kg/day. This resulted in a further rise in both serum and erythrocyte selenium, but not in erythrocyte glutathione peroxidase activity.

Adolescent↗
PubMed1985

Selenium in plasma and erythrocytes in patients with Down's syndrome and healthy controls. Variation in relation to age, sex and glutathione peroxidase activity in erythrocytes.

The mean plasma selenium concentration (P-Se) in 65 patients with Down's syndrome (DS) did not differ from that in 90 healthy controls. The concentration of selenium in the erythrocytes (E-Se) was higher in DS patients than in controls (p less than 0.001). P-Se and E-Se increased progressively with age through childhood in both DS children and controls. The former children, however, started out with higher levels of E-Se and reached adult concentrations earlier (at 7-17 years) than controls (greater than or equal to 18 years). Adult DS patients and controls did not differ in their mean P-Se or E-Se concentration. There was a significant correlation between P-Se and E-Se both in DS patients and in controls. In DS patients each of these two variables was significantly correlated to glutathione peroxidase (GSH-Px) activity in erythrocytes. A sex difference in the DS children, but not in the controls, was observed with regard to P-Se and E-Se levels, these being higher in DS girls during childhood (0-17 years). This was in accordance with an earlier finding of higher GSH-Px activity in DS girls than in DS boys.

Adolescent↗
PubMed1985

Dental health and dental care in severely mentally retarded children.

Dental health of 103 children with severe mental retardation living in the north of Sweden, has been surveyed and compared with that of a control group of healthy children of normal intelligence. Data has been related to medical diagnosis, medication, type of residence and previous dental care. The children with severe mental retardation had been offered dental care to the same extent as the control children. Lack of cooperation in treatment and treatment under general anaesthesia was common among the SMR-children. The SMR-children who lived in institutions had a lower prevalence of caries than either those SMR-children not living in institutions or the control group. The SMR-children had a considerably higher frequency of inflamed gingival surfaces and pathological gingival pockets than the control children. The highest frequency was found among children with Down's syndrome. Gingival hyperplasias were recorded in 21% of the SMR-children. The study showed that the children with SMR had shared the generally improved dental care resources and that regular dental care had ensured that there was no neglected need for caries treatment. Periodontal health was poor and the need for stronger and appropriate preventive measures against gingivitis and periodontitis was considerable.

Adolescent↗
PubMed1984

Familial minor neurodevelopmental disorders.

Sixteen patients (13 males and 3 females) with minor neurodevelopmental disorders from 7 families were examined in an etiologic study. In four of the families (3, 5, 6 and 7) no brain damaging factors could be traced in the prenatal, perinatal or postnatal periods, and genetic main etiologies were strongly suspected. In one family (1) alcohol abuse during the pregnancies was thought to be an etiologically contributing factor. Potentially brain damaging factors were demonstrated in at least one patient from each of the remaining two families (2 and 4), and might, in these cases, have interacted with hereditary factors.

Adolescent↗
PubMed1984

Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations.

In view of the different modes of inheritance and the different prognoses of the two oro-facio-digital syndromes, type 1 (OFD-I) and type 2 (OFD-II), it is important to establish a correct diagnosis in these patients. In this report two new patients with the OFD-I syndrome are presented. One of them (Case 1) had multiple congenital malformations and never made any mental contact. She died at the age of four months and autopsy of the brain revealed abnormalities typical of the syndrome, which are discussed. The other patient (Case 2) has so far had normal mental development. Although these two patients were affected to a very different degree, they both presented the clinical and radiological characteristics of the OFD-I syndrome. These two patients and previously reported cases of the OFD-I and OFD-II syndromes were compared with a patient with the OFD-II syndrome (Case 3), a patient reported earlier who is undergoing follow-up. The radiological features of the skeleton in the two syndromes are presented. The irregular mineralization of the hands and feet characteristic of OFD-I, but not of OFD-II, seems to offer a good opportunity to distinguish between these two syndromes. It is suggested that this finding is pathognomonic for the OFD-I syndrome.

Abnormalities, Multiple↗