Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation.

A one-year-old boy with type I H mucopolysaccharidosis (Hurler's disease) was given a bone-marrow transplant (BMT) from his mother in an attempt to replace the deficient enzyme, alpha-L-iduronidase (iduronidase). These is definite evidence of engraftment, the enzyme activity of the recipient's leucocytes reaching heterozygote levels within 37 days of the BMT. Graft-versus-host disease (GVHD) developed but was partially controlled by steroids.

Effect of manual brush cleaning on biomass and community structure of microfouling film formed on aluminum and titanium surfaces exposed to rapidly flowing seawater.

Metals exposed to rapidly flowing seawater are fouled by microbes that increase heat transfer resistance. In this study, results of biochemical test methods quantitatively relating the biomass and community structure of the microfouling film on aluminum and titanium to heat transfer resistance across the metal surface during three cycles of free fouling and manual brushing showed that cleaning accelerates the rate of fouling measured as the loss of heat transfer efficiency and as microfouling film biomass. The results also showed that the rate of fouling, measured as an increase in heat transfer resistance, is faster on titanium than on aluminum but that the titanium surface is more readily cleaned.

Correct prenatal diagnosis of a Hurler fetus where amniotic fluid cell cultures were of maternal origin.

Contamination of amniotic fluid cell cultures by maternal cells can be expected to lead to misdiagnosis of fetal genotype in 0.1 to 0.5/100 cultures, when assays are carried out directly on cultured cells.

Labeling theory and community care of the mentally ill in California: the relationship of social theory and ideology to public policy.

The practical merit of a labeling theory approach to mental illness is examined and assessed through an exploration of its application in terms of public policy, i.e., community mental health policy in the state of California since 1968.

Fibroblast alpha-galactosidase A activity for identification of Fabry's disease heterozygotes.

The identification of female carriers of Fabry's disease is important for genetic counselling since prenatal diagnosis of affected fetuses is possible. The activities of either total alpha-galactosidase or alpha-galactosidase A in cultured fibroblasts were similar in Fabry carriers and controls and cannot therefore be used for carrier detection. Better discrimination between carriers and controls was found when total alpha-galactosidase activity was expressed as a ratio to beta-galactosidase activity, but overlap still occurred.

Prenatal diagnosis of Farber's disease.

Two pregnancies at risk for Farber's disease were monitored with amiocentesis at 15 and 16 weeks' gestation. In the first pregnancy tested, cultured amniotic-cell ceramidase activity was 7.8% of the control mean and an affected fetus was predicted.

Prenatal diagnosis of galactosaemia in six pregnancies -- possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus.

We describe our experience in prenatal diagnosis of six foetuses at risk for galactosaemia. In one family the parents were both shown to be double heterozygotes at the galactose 1-phosphate uridyl transferase (Gal-PUT) locus, the mother having a Duarte/Los Angeles and the father a Duarte/galactosaemia genotype. The foetus (and an older brother previously thought to have classical galactosaemia) was also a Duarte/galactosaemia double heterozygote.

Lumbar kyphosis in Hunter's disease (MPS ii).

Although radiological involvement of the lower dorsal and upper lumbar vertebrae is common in the severe form of Hunter's disease (MPS II), there are reports in the literature that clinical kyphosis does not occur. We report a boy with marked clinical kyphosis in whom the diagnosis of MPS II was proved by demonstrating a severe deficiency of serum and leucocyte iduronate-sulphate sulphatase and an accelerated incorporation of radiosulphate into his cultured fibroblast glycosaminoglycans, which could not be corrected by the product of other typed reference MPS II cells. The existence of several other genetic diseases, sometimes complicated by kyphosis, was excluded by assay of fibroblast lysosomal enzymes.

Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.

The work of one Genetic Centre over 16 years, covering about 14 000 kinships, is described. The numbers registered in a year increased from an average of 477 in the early 1960s to 1612 in 1976/1977. The increase is largely, but not entirely, attributable to the advent of prenatal diagnosis, and an account is given of our experience with this.

Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum.

We report clinical, genetic and biochemical findings in 13 families with the photosensitive genodermatosis, xeroderma pigmentosum. All patients had a defect in repair of DNA damage provoked by ultraviolet radiation. Eleven patients and their three affected sibs were defective in the excision repair of UVR induced DNA lesions while the other two were defective in post-replication repair.