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Biomedical subjects

G Gillett

Publications and source records attributed to G Gillett.

32 records · Page 2Linked to original sources

Two loci for tuberous sclerosis: one on 9q34 and one on 16p13.

32 families informative for the segregation of Tuberous sclerosis (TSC) have been examined for genetic markers on chromosomes 9, 11, 12 and 16. In one large family there was clear evidence of linkage to markers on chromosome 16p13.3 (lodscore with D16S291 of 4.7 at theta = 0) but other families were too small to give individually convincing lodscores. Combined results for all families gave positive results with ABO/DBH on chromosome 9 (max lod 2.63) and with D16S291 on chromosome 16 (max lod 3.98) at values of theta of 0.2 in each case. Further analysis showed strong evidence for heterogeneity with approximately half the families linked to a locus TSC1 on chromosome 9 between ASS and D9S298 and half to TSC2 on chromosome 16 close to D16S291. There was no definite support for a third locus although in many families this could not be excluded. In three families the segregation pattern of TSC remains unexplained. In two of these the family apparently segregates for TSC1 but in each case a single affected individual appeared to exclude the whole of the candidate region. Preliminary analysis of clinical features did not reveal any definite differences in incidence of mental handicap between individuals in different linkage groups or with different sex of the parent of origin. The frequencies of periungual fibromas and facial angiofibromas were also similar in both linkage groups. The difficulties of detecting linkage in small families where there is locus heterogeneity are discussed. The program ZZ was found to be helpful in this respect.

Adolescent↗

Metaphysics and medical ethics: a reply.

The total longitudinal form view of human beings is a metaphysical view which aims to locate our moral judgements about human embryos in a broader set of attitudes and characterisations. On this basis it has explanatory power and a real function in that it grounds our ethical discussion of embryos in other discourses. Contra Leavitt, this grounding suggests a broader criterion of relevance for metaphysical discussion than asking 'what comes out of' such a discussion for a particular ethical dilemma.

Beginning of Human Life↗

Euthanasia from the perspective of hospice care.

The hospice believes in the concept of a gentle and harmonious death. In most hospice settings there is also a rejection of active euthanasia. This set of two apparently conflicting principles can be defended on the basis of two arguments. The first is that doctors should not foster the intent to kill as part of their moral and clinical character. This allows proper sensitivity to the complex and difficult situation that arises in many of the most difficult terminal care situations. The second argument turns on the seduction of technological solutions to human problems and the slippery slope that may arise in the presence of a quick and convenient way of dealing with problems of death and dying.

Euthanasia↗

Identification and regional localization of a highly polymorphic dinucleotide repeat D11S614 to the interval in 11q23.3 flanked by recurrent translocation breakpoints.

A highly informative dinucleotide repeat polymorphism has been identified at the D11S614 locus on chromosome 11q23. Ten different alleles have been observed at this locus, and the heterozygosity frequency is approximately 85%. Physical localization of this marker in a panel of somatic cell hybrids containing chromosome 11 translocations showed that it maps to 11q23.3, within the interval between the recurrent t(4;11) leukaemia breakpoint and the t(11;22) Ewing's sarcoma breakpoint. This physical mapping data is consistent with the genetic mapping which indicates tight linkage to other markers in the q23.3 region including PBGD, CD3D and D11S29. Regional localization of highly informative markers such as D11S614 will facilitate integration of the genetic and physical maps.

Alleles↗

Ethics and embryos.

In this paper we argue that the human form should be seen to exist, in a longitudinal way, throughout the continuum of human growth and development. This entails that the moral value of that form, which we link analytically to the adult, interacting, social and rational being, attaches to all phases of human life to some extent. Having established this we discuss the consequences it has for the moral status of the human embryo. We then apply this argument, and the resulting moral status, to the area of reproductive technology. In doing this we show that there are certain regulations and controls which ought to apply to the use of these infertility treatments.

Abortion, Induced↗

The ethical challenge of sick children.

Our impulse in medicine is to furnish help and comfort to the human beings who come to us, and to do so by using whatever technology is appropriate. This intuitive feeling is challenged by certain medical ethicists. Their principles, however, must be combined.

Attitude to Death↗

Diabetes insipidus complicating myelofibrosis.

A 68 year old man developed cranial diabetes insipidus 3 years after the diagnosis of myelofibrosis, coincident with a marked increase in nucleated cell count. No mass lesion was demonstrable on computed tomographic or magnetic resonance imaging. It is suggested that hypothalamic damage was caused by local infiltration or infarction, a complication of myelofibrosis which has not previously been reported.

Animals↗

Euthanasia, letting die and the pause.

There is a marked disparity between medical intuitions and philosophical argument about euthanasia. In this paper I argue that the following objections can be raised. First, medical intuitions are against it and this is an area in which judgement and sensitivity are required in that death is a unique and complex process and the patient has many needs including the need to know that others have not discounted his or her worth. Also, part of the moral constitution of a good doctor is a devotion to the protection and preservation of life whatever reasons are produced to dissuade her. Finally, we do not know what the final events of a person's life might hold.

Ethical Analysis↗

Subdural empyema--continuing diagnostic problems in the CT scan era.

Fourteen cases of subdural empyema seen in Oxford since the introduction of the CT scanner are reviewed; 11 were male and 12 survived. The clinical presentation was stereotyped and characterised by severe headache, fever and meningism followed after a few days by rapidly progressive drowsiness, focal signs, papilloedema and seizures. All had radiological evidence of paranasal sinus disease (particularly frontal) although this was not apparent clinically in the majority. Plain skull and sinus radiographs remain important early investigations. Over-reliance can be placed on the CT scan which initially may be normal or show only non-specific hemisphere swelling. Parafalcine collections are easily missed. The diagnosis of subdural empyema remains difficult and a high index of clinical suspicion is required. Outcome depends on prompt treatment with parenteral antibiotics and surgical drainage.

Adolescent↗

Intra-arterial infusions in the treatment of hydrofluoric acid burns.

Burns due to hydrofluoric acid are uncommon, but are severe injuries. The mode of action is discussed briefly and the routine management of these patients is outlined. The use of intra-arterial infusions of calcium gluconate is stressed, and case reports are given to support its use.

Accidents, Occupational↗