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Biomedical subjects

L J Butler

Publications and source records attributed to L J Butler.

At least 37 records · Page 2Linked to original sources

Ten human carcinoma cell lines derived from squamous carcinomas of the head and neck.

Ten cell lines of human squamous carcinomas of the tongue and larynx have been established from surgical specimens removed from 36 unselected patients, in order to provide systems for investigating the invasive and tissue-destructive capacity of squamous carcinomas of the head and neck. The morphology, ultrastructure and growth characteristics of the 10 lines are described. Detailed cytogenetic analysis of the first 4 lines indicates that each is karyotypically unique, with no evidence of cross-contamination. Nine of the 10 cell lines secrete immunoreactive beta human chorionic gonadotrophin (beta-hCG) in the culture medium. No correlation was demonstrated between the ability of the cell lines to secrete plasminogen activator and their capacity to grow in soft agar or as xenografts in immune-deficient mice.

Aged↗

A child trisomic for the distal part of chromosome 14q.

A child is described with multiple congenital abnormalities including microcephaly, odd facies, Fallot's tetralogy, and absent parathyroids. These were associated with partial trisomy for the distal half of the long arm of chromosome 14, the extra segment being translocated to the short arms of No 10. The main clinical problems were those related to the congenital heart disease and hypocalcaemia.

Chromosome Aberrations↗

Phenylketonuria due to a deficiency of dihydropteridine reductase.

The onset of neurologic symptoms in a child who had markedly elevated blood phenylalanine levels during the first two weeks of life and who was promptly treated with a low phenylalanine diet, with excellent control of serum phenylalanine levels, suggested that this child had an unusual form of phenylketonuria. In assays of the components of the phenylalanine hydroxylating system (open liver biopsy at 14 months), the activity of phenylalanine hydroxylase was 20 per cent of the average normal adult value. By contrast, no dihydropteridine reductase activity was detected in the patient's liver, brain or cultured skin fibroblasts. Since dihydropteridine reductase is also essential for the biosynthesis of dopamine, norepinephrine, and serotonin, disturbed neurotransmitter function may be responsible for the patient's neurologic deterioration. On the basis of these results, assay of reductase in cultured skin fibroblasts may be advisable in the initial diagnosis of phenylketonuria.

Biopterins↗

Uncomplicated HL-A matched sibling bone marrow graft for combined immune deficiency.

When an apparently identical HL-A donor can be found and satisfactorily checked by the mixed lymphocyte reaction, it is worth attempting simple bone marrow grafting in a patient with combined immune deficiency syndrome who otherwise would die. Immunocompetence was given in this way to a baby girl by her 4-year-old brother and was confirmed by the presence of Y-chromosome in most of the transforming lymphocytes. IgA was late to emerge, presumably owing to the immaturity for IgA of the donor's bone marrow.

Bone Marrow Transplantation↗