Medicine Portfolio Theseshttps://hdl.handle.net/10023/18142024-03-29T13:15:21Z2024-03-29T13:15:21ZFifty years in inborn errors of metabolism : from urine ferric chloride to mass spectrometry and gene analysisBuist, Neil R. M.https://hdl.handle.net/10023/127242023-04-10T09:38:46Z2014-01-01T00:00:00ZPrefatory material introducing a collection of articles spanning fifty years of research into inborn errors of metabolism. Table of Contents:
1. Introduction --
2. Background information about inborn errors of metabolism --
3. Lessons from phenylketonuria [PKU] --
4. My role in developing new medical foods --
5. My role in solving an epidemic of benzyl alcohol poisoning in premature infants --
6. My role in galactosaemia research --
7. My start in the metabolic world - screening tests in urine --
8. My experiences in disaster relief --
9. My first appearance in the medical literature --
10. A selection of rare and unusual diseases --
11. Tyrosinaemia type II; tyrosine aminotransferase deficiency --
12. Iminodipeptiduria due to prolidase deficiency --
13. Citrullinaemia --
14. Rippling muscle disease --
15. A fatal X-linked disorder of diarrhoea, diabetes mellitus and immune
dysregulation --
16. Infantile Refsum disease --
17. Hereditary hypocalcuric hypercalcaemia --
18. Carbohydrate deficient glycoprotein disease type IAPKU --
19. Thiamine-responsive diabetes and deafness --
20. Folinic acid-responsive seizures: a false alarm --
21. S-adenosylmethionine hydrolase deficiency --
22. Deficiency of complex III of the respiratory chain --
23. Current research: quantitation of infant sucking behaviour --
24. Discussion and summary
Electronic version does not contain associated previously published material
2014-01-01T00:00:00ZBuist, Neil R. M.Prefatory material introducing a collection of articles spanning fifty years of research into inborn errors of metabolism. Table of Contents:
1. Introduction --
2. Background information about inborn errors of metabolism --
3. Lessons from phenylketonuria [PKU] --
4. My role in developing new medical foods --
5. My role in solving an epidemic of benzyl alcohol poisoning in premature infants --
6. My role in galactosaemia research --
7. My start in the metabolic world - screening tests in urine --
8. My experiences in disaster relief --
9. My first appearance in the medical literature --
10. A selection of rare and unusual diseases --
11. Tyrosinaemia type II; tyrosine aminotransferase deficiency --
12. Iminodipeptiduria due to prolidase deficiency --
13. Citrullinaemia --
14. Rippling muscle disease --
15. A fatal X-linked disorder of diarrhoea, diabetes mellitus and immune
dysregulation --
16. Infantile Refsum disease --
17. Hereditary hypocalcuric hypercalcaemia --
18. Carbohydrate deficient glycoprotein disease type IAPKU --
19. Thiamine-responsive diabetes and deafness --
20. Folinic acid-responsive seizures: a false alarm --
21. S-adenosylmethionine hydrolase deficiency --
22. Deficiency of complex III of the respiratory chain --
23. Current research: quantitation of infant sucking behaviour --
24. Discussion and summaryThe inferior vena caval compression theory of hypotension in obstetric spinal anaesthesia: studies in normal and preeclamptic pregnancy, a literature review and revision of fundamental conceptsSharwood-Smith, Geoffrey H.https://hdl.handle.net/10023/18152019-04-01T08:47:12Z2011-01-01T00:00:00ZThree clinical investigations together with a combined editorial and review of the cardiovascular physiology
of spinal anaesthesia in normal and preeclamptic pregnancy form the basis of a thesis to be submitted for the
degree of Doctor of Medicine at the University of St Andrews. First, the longstanding consensus that spinal
anaesthesia could cause severe hypotension in severe preeclampsia was examined using three approaches.
The doses of ephedrine required to maintain systolic blood pressure above predetermined limits were first
compared in spinal versus epidural anaesthesia. The doses of ephedrine required were then similarly studied
during spinal anaesthesia in preeclamptic versus normal control subjects. The principal outcome of these
studies, that preeclamptic patients were resistant to hypotension after a spinal anaesthetic, was then further
investigated by studying pulse transit time (PTT) changes in normal versus preeclamptic pregnancy. PTT
was explored both as beat-to-beat monitor of cardiovascular function and also as an indicator of changes in
arterial stiffness. The cardiovascular physiology of obstetric spinal anaesthesia was then reviewed in the light
of the three clinical investigations, developments in reproductive vascular biology and the regulation of
venous capacitance. It is argued that the theory of a role for vena caval compression as the single cause of
spinal anaesthetic induced hypotension in obstetrics should be revised.
Full metadata records and copyright statements for publications contained in this portfolio thesis are available at the identifiers listed
2011-01-01T00:00:00ZSharwood-Smith, Geoffrey H.Three clinical investigations together with a combined editorial and review of the cardiovascular physiology
of spinal anaesthesia in normal and preeclamptic pregnancy form the basis of a thesis to be submitted for the
degree of Doctor of Medicine at the University of St Andrews. First, the longstanding consensus that spinal
anaesthesia could cause severe hypotension in severe preeclampsia was examined using three approaches.
The doses of ephedrine required to maintain systolic blood pressure above predetermined limits were first
compared in spinal versus epidural anaesthesia. The doses of ephedrine required were then similarly studied
during spinal anaesthesia in preeclamptic versus normal control subjects. The principal outcome of these
studies, that preeclamptic patients were resistant to hypotension after a spinal anaesthetic, was then further
investigated by studying pulse transit time (PTT) changes in normal versus preeclamptic pregnancy. PTT
was explored both as beat-to-beat monitor of cardiovascular function and also as an indicator of changes in
arterial stiffness. The cardiovascular physiology of obstetric spinal anaesthesia was then reviewed in the light
of the three clinical investigations, developments in reproductive vascular biology and the regulation of
venous capacitance. It is argued that the theory of a role for vena caval compression as the single cause of
spinal anaesthetic induced hypotension in obstetrics should be revised.