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Biomedical subjects

K H Gustavson

Publications and source records attributed to K H Gustavson.

At least 163 records · Page 9Linked to original sources
PubMed1978

Chronic recurrent multifocal osteomyelitis and pustulosis palmoplantaris.

Based on nine patients 4 to 26 years of age, we describe the clinical characteristics of chronic recurrent multifocal osteomyelitis. This disorder was characterized by an insidious onset of fever, local swelling and pain in affected bones, and radiologic findings suggesting osteomyelitis. The lesions were mainly localized to the clavicles and the metaphyses of tubular bones. The clinical course was characterized by intermittent periods of exacerbation and improvement over several years. Six of the patients had recurrent pustulosis palmaris and plantaris, which closely parallelled the exacerbations of the bone lesions. Biopsies from the bone lesions showed nonspecific inflammatory changes with granulocytic infiltration. Repeated bacterial and fungal cultivations from blood, bone biopsies, and pustules were negative. Immunologic investigation revealed no abnormality common to the patients. There was no indications of a genetic etiology. The pathogenesis of the disorder is unknown. Antibiotic treatment had no obvious effect but corticosteroid therapy appeared to be of benefit in some patients. The long-term prognosis appears to be relatively good.

Adolescent↗
PubMed1978

Prenatal diagnosis of an XXY foetal karyotype in a woman with a previous 21-trisomic child.

Prenatal chromosome analysis revealed that a 34-year-old, gravida 2 mother was pregnant with a XXY foetus. She had previously given birth to a 21-trisomic boy with another spouse. Both parental karyotypes were normal, but a high frequency of associations between satellited chromosomes was observed in maternal lymphocytes. The possibility that increased satellite associations may predispose to aneuploidy in the offspring is discussed. The finding of normal testicular histology in the aborted XXY foetus provides evidence that the characteristic XXY testicular dysgenetic lesions are likely to occur not earlier than in the late prenatal period.

Chromosomes, Human, 21-22 and Y↗
PubMed1978

Apparently non-deleted ring-1 chromosome and extreme growth failure in a mentally retarded girl.

A girl, who was the product of the first recognized conception by healthy and chromosomally normal parents, and who was born 5 weeks before term with a birth weight of only 1,690 g, was found to have a ring-1 chromosome, r(1), in almost all cells analysed. A minor proportion of cells had a normal diploid chromosome complement including two regular No. 1 homologues. A few cells contained a large dicentric ring, and two monocentric ring-1 chromosomes were simultaneously observed in a few other cells. Q- and G- banding revealed the r(1) chromosome to be apparently non-deleted. The patient phenotypically resembled the three previously described human subjects with r(1) chromosomes, especially with respect to her remarkable growth failure and metal retardation. From consideration of data available on general development in subjects with an autosomal ring chromosome, it appears likely that the presence of such a ring chromosome per se in an early foetal chromosome complement may predispose to significantly retarded intrauterine and postnatal growth. Various genetical implications, including mitotic irregularities with subsequent loss of cells at division, are thought to account for the significant reduction of body mass in these patients.

Abnormalities, Multiple↗
PubMed1978

The incidence of diabetes mellitus in Swedish children 1970--1975.

We report a retrospective study of diabetic children, 0--14 years of age, from seven Swedish departments of paediatrics. There were 359 new cases in the years 1970--1975. Notification suggested that there was a mean yearly incidence of 19.6 cases per 100 000 with a year to year variation of 10.0--26.4 per 100 000. Consequently about 330 new cases of childhood diabetes would be expected in Sweden every year. Incidence varied considerably between different geographical areas. The age distribution was bimodal with a main peak at about 12 years and another peak at about 7 years. There was some evidence for clustering of new cases in January and the autumn. The mean prevalence of childhood diabetes in the seven districts was 1.3 per 1 000.

Adolescent↗
PubMed1978

A variant chromosome 17 in a mother with repeated abortions and a 46, XY/47, XXY Klinefelter son.

A female with a satellited chromosome 17 is presented. She had suffered repeated abortions and later gave birth to a 46,XY/47,XXY Klinefelter boy. The significance of the variant chromosome 17 in the etiology of the mother's reproductive failure is discussed. The mental and physical development of her now 8-year-old 46,XY/47,XXY son has been checked regularly since birth. The boy showed a significant deviation in behaviour pattern and development of body habitus already from early infancy.

Abortion, Habitual↗
PubMed1977

Severe mental retardation in a Swedish county. II. Etiologic and pathogenetic aspects of children born 1959--1970.

In an unselected series of 122 children born in 1959--1970 with severe mental retardation (SMR), the magnitude and distribution of the different etiologic and pathogenetic factors were analysed. Prenatal causes were considered relevant in 73 per cent, perinatal in 10 and postnatal in 3. In 12 per cent no traceable cause whatsoever was found. Infantile primary psychoses constituted 2 per cent. Within the prenatal group, no less than 43 per cent presented firm evidence favouring a genetic etiology, chromosomal syndromes together constituting 36 per cent and mutant gene disorders 7 per cent. Etiologically unclassifiable cases with prenatal stigmata and congenital defects amounted to 18 per cent. A condition of fetal deprivation of supply was considered to have been of major importance in 8 per cent. Almost half of the cases had one or more associated CNS handicaps. Cerebral palsy syndromes were evident in 18 per cent and epilepsies in 30 per cent. The relative risk of having cerebral palsy in addition to SMR was strongly correlated to cases classified as prenatally or perinatally acquired CNS syndromes. It is concluded that prenatal prevention is of special importance for reducing the occurrence of SMR. As chromosomal aberrations are the cause in more than 1/3 of cases with SMR, the desirability of developing effective cytogenetic screening methods and programs applicable to all pregnant women is particularly emphasized.

Adolescent↗
PubMed1977

Severe mental retardation in a Swedish county. I. Epidemiology, gestational age, birth weight and associated CNS handicaps in children born 1959--70.

In a unselected series of children born in 1959--70 with severe mental retardation (MR)---defined as IQ less than 50---in a Swedish county, the incidence, prevalence, gestational length, birth weight and associated CNS handicaps were analysed. The cumulative incidence at 1-16 years of age was calculated at 3.3% and the prevalence at 11-16 years at 2.8%. These figures were lower than in most other previous studies. In the great majority of cases the pathogenesis was of prenatal origin. The mean gestational lengths and birth weights were decreased compared with those of an average Swedish population. Severe MR affected large and small for date babies more often than could be expected. On the other hand, babies, with a low birth weight, appropriate for gestational age, and with an uncomplicated history, were found not to run a special risk of severe MR. Among the 122 children, 42% had one or more associated CNS handicaps---epilepsy (30%) and cerebral palsy (18%) being the most common.

Adolescent↗
PubMed1976

Recurrence risks in a consecutive series of congenitally malformed children dying in the perinatal period.

During a 4 1/2-year period a special study of 207 consecutive perinatal deaths, including clinical, genetical, roentgenological and autopsy investigations, was undertaken with the aim of identifying inherited malformations with a high risk of recurrence to subsequent sibs. Fifty-three of the children dying perinatally were malformed. In 13 cases the cause of the malformation was purely genetic; 11 were caused by mutant genes of large effect, and two by chromosomal aberrations. Information from such a study provides a good basis for genetic counselling of the family.

Congenital Abnormalities↗
PubMed1975

Alpha-fetoprotein in antenatal diagnosis of congenital nephrosis.

Alpha-fetoprotein (A.F.P,) levels were found to ge significantly raised in maternal serum and amniotic-fluid samples form the 16th and 18th weeks of gestation in a woman with an apparently normal fetus but with histological evidence of congenital nephrosis of the Finnish type. Increased concentrations of A.F.P. in early pregnancy with a living fetus are therefore not specific for neural-tube defects; More likely they result from the fetal circulation. Extended investigations, including kidney morphology, should be done in cases of apparent false-positive A.F.P. tests.

Alpha-Globulins↗
PubMed1975

Different types of osteochondrodysplasia in a consecutive series of newborns.

Among 14816 consecutive live births there were 7 cases of osteochondrodysplasia (incidence 1:2117). In addition there was 1 case of stippled epiphyses, possibly induced by anticonvulsive drugs taken by the mother during the pregnancy, and one case of cerebro-hepato-renal syndrome of Zellweger with roentgenological features similar to those of hypochondrodysplasia. None of 102 stillborns seen at the same time had osteochondrodysplasia. For genetic counselling an exact diagnosis is mandatory, radiological examination of the skeleton is often of decisive importance.

Achondroplasia↗