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Biomedical subjects

J Burn

Publications and source records attributed to J Burn.

At least 217 records · Page 12Linked to original sources

May spina bifida result from an X-linked defect in a selective abortion mechanism?

It is suggested that the major genetic factor in determining the birth of children with neural tube defects may be a single X-linked gene. It acts as an X-linked dominant, not by producing neural tube defects, but by enabling the affected fetus to survive selective spontaneous abortion. This mechanism, mediated at the deciduoplacental junction, may be under the control of both maternal and fetal genes. With more mutant alleles, survival would become more likely, reaching a maximum in the homozygous affected female fetus of a homozygous affected mother. The female excess in anancephaly is greater than that in spina bifida because of its prenatal severity, thus requiring relatively more mutant alleles for survival.

Abortion, Spontaneous↗

The effects of insulin glucose administration in fulminant hepatic failure.

Insulin glucose therapy can correct hyponatraemia and renal sodium retention in burns, sepsis and circulatory failure. A case of fulminant hepatic failure (F.H.F.) is described in which the same effect was observed. Insulin was thought to have corrected abnormal cell membrane permeability. The actions of insulin are discussed in relation to its possible role in the management of F.H.F.

Female↗

Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale.

A two-year-old child who had had palliative surgery as a neonate for an absent right atrioventricular connection and double-inlet ventricle was shown to be developmentally retarded. Trisomy for the short arm of chromosome 8 was demonstrated, resulting from a familial 8:13 translocation, with a high risk of recurrence. Although the specific features of this case are unique, it illustrates the importance of chromosome analysis in any dysmorphic infant whose heart defect places prolonged survival in doubt.

Cardiac Catheterization↗