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Biomedical subjects

G Hosking

Publications and source records attributed to G Hosking.

At least 37 records · Page 2Linked to original sources

Interviews with parents of boys suffering from Duchenne muscular dystrophy.

Parents from 53 families of boys with Duchenne muscular dystrophy were interviewed to explore their reactions to the diagnosis and the effects of the disease on family life. The findings are discussed in terms of the problems reported by the parents, their experiences at the time of diagnosis, their views on neonatal screening, the effects on the marital relationship, on siblings and on the affected boys themselves, and the parents' need for better information about the disorder.

Adolescent↗

Congenital ring constrictions with entrapment neuropathies.

An eight year old boy with multiple simple congenital ring constrictions is described with peripheral nerve palsies caused by entrapment in the constrictions. It is suggested that ring constrictions should be considered in the differential diagnosis of entrapment neuropathy.

Child↗

Biotin-responsive alopecia and developmental regression.

A 10-month-old boy presented with dermatitis and alopecia and became severely hypotonic. Screening for urinary organic acids revealed a large quantity of 3-hydroxyisovaleric acid and raised levels of beta-methylcrotonylglycine and 3-hydroxypropionate. Activities of propionyl CoA carboxylase, beta-methylcrotonyl CoA carboxylase, and pyruvate carboxylase in cultured fibroblasts were normal. Treatment with oral biotin resulted in a dramatic clinical improvement, which might therefore suggest a defect in biotin absorption or transport.

Alopecia↗