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Biomedical subjects

S Blomstrand

Publications and source records attributed to S Blomstrand.

7 recordsLinked to original sources
PubMed1990

Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy.

Clinical, biochemical and morphological findings in a 16-month-old infant girl with pseudo-neonatal adrenoleukodystrophy are reported. The parents were first cousins and the baby was born at term, small for gestational age. The neonatal period was characterized by convulsions resistant to treatment, generalized, severe muscle hypotonus, feeding difficulties and poor weight gain. Developmentally she remained at a neonatal level. A CT-scan showed low density of cerebral white matter and MR examination white matter changes, a thin corpus callosum, cerebellar malformation and dorsal displacement of the brainstem. There was an accumulation of very long chain fatty acids (VLCFA) in serum lipids and cultured skin fibroblasts but plasmalogen and phytanic acid levels were normal. A liver biopsy revealed enlarged peroxisomes staining for catalase. Three similar cases have been reported previously; in two of these there was a deficiency of acyl-CoA oxidase. MR evidence of leukodystrophy combined with gross cerebral and cerebellar morphologic changes have not been reported earlier.

Acyl-CoA Oxidase↗
PubMed1985

A case of lethal congenital dwarfism with accelerated skeletal maturation.

Details of a female infant, who was born after 29 weeks gestation and who died within minutes of birth, are presented. The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet. Apart from a preductal aortic coarctation the pathological findings were confined to the skeleton. The radiographical and histological findings are described in detail; they differ from those of previous studies of similar conditions.

Abnormalities, Multiple↗
PubMed1985

Unsuccessful attempts to induce peroxisomes in two cases of Zellweger disease by treatment with clofibrate.

The cerebro-hepato-renal syndrome of Zellweger is a fatal hereditary disease and most of the affected infants die before the age of 6 months. Most probably the fatal outcome of the disease is due to an apparent complete lack of peroxisomes in the liver, kidneys, and brain. Treatment with clofibrate is known to increase drastically the number of peroxisomes in mammalian liver. We therefore treated two infants with the Zellweger syndrome with clofibrate (30 and 45 mg/kg body weight, respectively) for 3-4 wk. No clinical effect of the treatment was observed in any of the two cases, and the pattern of abnormal bile acids in serum did not change. No peroxisomes could be detected by electron microscopy of liver biopsies taken immediately after the treatment. Our failure to induce peroxisomes in the two Zellweger patients is in accord with the hypothesis that the protein missing in this autosomal recessive disease is absolutely essential for the formation of peroxisomes.

Abnormalities, Multiple↗
PubMed1978

Measurement of cerebral blood flow in the fetal lamb with a note on the flow-distribution.

The cerebral blood flow was measured in the acutely exteriorized fetal lamb by 133Xenon washout and microsphere distribution techniques. The measurements were performed at different blood gas levels. Regional cerebral blood flow was calculated from the microsphere distribution for five different parts of the brain. This gave estimates for blood flow in both the grey and white matter of the hemispheres, which were in close agreement with the cerebral blood flow estimated by the 133Xe washout technique. The microsphere distribution shows that the fetal cerebral hemisphere has a low blood flow compared to the basel parts of the brain and that this difference is increased during hypoxia and hypercarbia.

Animals↗