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Biomedical subjects

T L Chambers

Publications and source records attributed to T L Chambers.

At least 37 records · Page 2Linked to original sources
PubMed1990

Genetic analysis of treated and untreated phenylketonuria in one family.

We describe a family in which four subjects in two generations have a disorder of phenylalanine metabolism. Two first cousins had different biochemical presentations in the neonatal period. The older child was thought to have a more severe form of phenylketonuria (PKU), and the younger child a milder form. While carrying out family studies we discovered that their mutual grandfather and his older unmarried brother, both of normal intelligence, had a marked and previously undiagnosed hyperphenylalaninaemia. DNA analysis using RFLP haplotypes has shown that there are four independent mutant PKU alleles in this family which are found on three haplotype patterns. None of the affected family members carries a previously defined mutation at the phenylalanine hydroxylase (PAH) locus and so DNA analysis was not able to explain the apparently different biochemical phenotypes in the affected members of this family.

Adolescent↗
PubMed1989

Kawasaki disease in siblings.

We report a case of mucocutaneous lymph node syndrome, which was diagnosed in a 13 month old boy two years after the death of his sister from the same disease.

Coronary Vessels↗
PubMed1984

Postgraduate education for part-time doctors.

A course of evening lectures was held for doctors working part-time and who found attending hospital postgraduate activities difficult. The results of a questionnaire suggested that this was a welcome venture and that there will be a larger number of women doctors who may have special postgraduate educational needs.

Career Choice↗
PubMed1983

Renal transplantation in children with occult neurogenic bladders drained by intermittent self catheterisation.

Children with neurogenic bladders have usually not been considered for renal transplantation because of the potential complications caused by chronic infections of the urinary tract. Two girls with occult neurogenic bladders who were practising intermittent self catheterisation were given renal transplants. Both took prophylactic antibacterial agents after transplantation, and both experienced infections at some stage, but none of these infections produced a deterioration in renal function. In one patient creatinine clearance fell and signs of obstruction appeared, but this was because the patient had been catheterising herself only two or three times a week. When she resumed catheterisation four times a day creatinine clearance rose and the urographic and renographic appearances returned to normal. These results suggest that, with adequate catheterisation and urinary chemoprophylaxis, infection is not a particular problem in children with bladder dysfunction who undergo renal transplantation.

Child↗