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Biomedical subjects

G S Gau

Publications and source records attributed to G S Gau.

15 recordsLinked to original sources

Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anaemia.

We present two families with a striking concordance of multiple anomalies. These include duodenal and other bowel atresia, radial ray defects especially absent or vestigial thumb, renal ectopia and hydrocephalus. The presence of diagnostically raised sensitivity to mitomycin C in the first family has confirmed Fanconi anaemia. This has further increased the spectrum of abnormalities in Fanconi anaemia and highlights the importance of mitomycin C analysis if elements of this spectrum are encountered.

Bone and Bones↗

Trophoblast from anembryonic pregnancy has both a maternal and a paternal contribution to its genome.

In a series of 14 anembryonic pregnancies, deoxyribonucleic acid from trophoblast was examined with locus-specific minisatellite probes. It was found in each case that trophoblast from anembryonic pregnancy has both a maternal and a paternal contribution to its genome. This means that although anembryonic pregnancy shares characteristics with complete hydatidiform mole and androgenetic development in the mouse in that there is no embryo, it does not arise by the same genetic process. Of three anembryonic pregnancies that were successfully karyotyped, two had normal female 46,XX chromosome constitutions and one had an abnormal 47,XX + 16 complement. The sex of the trophoblast in each anembryonic pregnancy was determined with a deoxyribonucleic acid probe with Y-specific bands. A male-to-female ratio of 6:8 was found, which is not significantly different from normal.

Chromosome Mapping↗

Use of a tissue adhesive to repair fetal bodies after dissection.

The repair of fetal bodies after dissection is extremely difficult because of the delicacy of the skin. A tissue adhesive, Histoacryl blue, was used to repair bodies that had been dissected either before or after immersion in formalin. The repairs were achieved rapidly and neatly. The technique was easy to learn and, providing the method of repair described was followed, there was no breakdown subsequently. The body cavities and reflected skin surfaces were lightly dried with absorbent paper towels and the body loosely packed with cotton wool. "Holding lines" of glue were made and a mid-line strip of glue was applied to the sternum, abdomen, and skull vault, allowing the skin edges to align neatly. Care must be taken to avoid using excess glue as this produces an exothermic reaction. It is recommended that if a fetus has to be repaired after dissection Histoacryl blue will give a good result.

Autopsy↗

Iatrogenic epithelial change caused by endotracheal intubation of neonates.

Tracheae of 20 neonates were obtained at postmortem examination. All neonates had been intubated for between 4 h and 105 days. The tracheal epithelial lining was examined by both light and scanning electron microscopy. Five tracheae which had never been intubated served as controls. All of these showed ciliation throughout their length. Those neonates who had been intubated showed epithelial change which ranged from a simple deciliation to a full stratified squamous epithelium. The degree of change was broadly related to the duration of intubation.

Cilia↗

The effect of blood flow on the surface morphology of the human endothelium.

The endothelial lining from the aortae of three 17 week human fetuses was examined by scanning electron microscopy. Orientation of the endothelial cells, particularly in the region above the aortic valve, was related to known flow patterns. Endothelial morphology showed regional variation noticeably at the mouths of arteries and at the aortic bifurcation. The possibility that this morphological change may be a hitherto unrecognised risk factor related to the site of atheromatous deposition is discussed.

Aorta↗

Women's attitudes to screening for neural tube defects.

The attitudes of 2254 pregnant and 262 other women to serum alpha-fetoprotein (AFP) screening for neural tube defects (NTDs) were investigated, the former by interview and the latter by questionnaires to which 228 replies were received. Over 97 per cent of the pregnant women wanted to be included in such a screening programme. Ninety-six per cent of other women who completed the questionnaire were in favour of national screening for NTDs but 14 per cent of them were uncertain about the action they would take if the test were positive.

Abortion, Induced↗