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Biomedical subjects

E Boyd

Publications and source records attributed to E Boyd.

At least 73 records · Page 4Linked to original sources

Optimising human chromosome separation for the production of chromosome-specific DNA libraries by flow sorting.

A number of cell lines, some containing chromosomes with distinctive heteromorphisms, have been flow karyotyped using a single laser flow sorter in an attempt to select those suitable for sorting all human chromosomes individually. Using the non-base-specific DNA stain ethidium bromide, chromosomes 3, 4, 5, and 6 form individual peaks in practically all normal subjects, while the right combination of heteromorphisms enables chromosomes 1, 2, 8, 9, 13, 16, 17, 18, 19, 20, 21, 22, and Y to be sorted separately. Two male cell lines, one containing a duplication and one a deletion of the X, produce flow karyotypes suitable for sorting chromosomes 7 and 8. The use of numerical chromosome abnormalities to enrich the sex chromosomes and the autosomes 18 and 21 is also illustrated. The DNA stain Hoechst 33258 binds preferentially to AT base pairs. Flow karyotypes produced with this fluorochrome separate some chromosomes not well separated with ethidium bromide. Chromosomes 5, 6, 8, 13, 14, 15, 17, and 20, and Y can be sorted individually with Hoechst 33258 with the right combination of heteromorphisms. Using these techniques, all human chromosomes apart from 10, 11, and 12 have been found as individual flow karyotype peaks, suitable for sorting with a high degree of purity.

Bisbenzimidazole↗

Inv dup (15) with mental retardation but few dysmorphic features.

We report a Scottish child with inv dup (15) and compare the clinical features with those of previously reported cases. Since the first report by Parker and Alfi in 1972, there have been 44 reports of patients with confirmed or suspected inv dup (15). The extra chromosomal material has been variously described, but in all cases there appears to be an additional G group sized chromosome in which both ends are derived from the short arm, centromere, and proximal long arm of chromosome 15. In most cases there are satellites at both ends of this extra chromosome. We report the first patient from Scotland with similar cytogenetic findings.

Chromosome Aberrations↗

Appendix mass in the very young child.

During the first 3 yr of life 54 (34%) of the 158 patients presenting with appendicitis had an appendix mass at the time the diagnosis was made. In 19 the mass was discovered on clinical examination and in 35 on examination under anesthesia. Complication rate was markedly reduced and hospitals stay shortened if the appendix mass was managed non operatively.

Appendectomy↗

High-resolution analysis of human peripheral lymphocyte chromosomes by flow cytometry.

A method for high-resolution analysis of the human karyotype by flow cytometry has been developed. Metaphase chromosomes are prepared from short-term peripheral blood cultures, stained with ethidium bromide, and analyzed on a standard fluorescence-activated cell sorter (FACS-II). Flow karyotypes with up to 20 peaks can be obtained with coefficients of variation in the range 1-2%. At this level of resolution the contribution of many of the human chromosomes can be evaluated separately. Significant and reproducible differences between normal individuals have been detected and have been correlated with differences in the centric heterochromatin of certain chromosomes as revealed in their C-banded karyotypes.

Cell Separation↗

Duodenal ulcer in childhood: a continuing disease in adult life.

Thirty-one of the 37 children with duodenal ulcers were available for follow-up. Of the 28 patients treated medically, 22 had persistence of symptoms over periods up to 18 yr after the time of the initial diagnosis. Five patients required surgery elsewhere for complications, thirteen showed ulcer crater or duodenal deformity on a follow-up barium meal studies. Earlier surgery is recommended in chronic ulcer disease.

Adolescent↗