Biomedical subjects
Elaine Murphy
Publications and source records attributed to Elaine Murphy.
The longest-surviving patient with classical maple syrup urine disease.
The clinical problems, dietary management and biochemical monitoring over a 40-year period of the longest-surviving patient with maple syrup urine disease are described. Her case illustrates that a good outcome can be obtained with early diagnosis and institution of a diet restricted in branched-chain amino acids. Changes in dietary supplementation have benefited her in terms of nutrition and quality of life. Consistently high blood concentrations of branched-chain amino acids have not been associated with neuropsychometric decline.
Interpretation of the short Synacthen test in the presence of low cortisol-binding globulin: two case reports.
CONTEXT: Ten percent of serum total cortisol (TC) is unbound; the remainder is bound to cortisol-binding globulin (CBG) and, to a lesser extent, albumin. CBG concentrations can drop significantly, particularly in critical illness, resulting in a low TC although the free, active, cortisol may be normal or increased. In the context of a low CBG, the diagnosis of pituitary-adrenal insufficiency with measurements of TC is difficult. OBJECTIVE: To remind clinicians of the difficulty in interpreting TC when the CBG is low, the circumstances when CBG concentrations may decrease and that measurement of CBG and calculation of the free cortisol index can help in the assessment of pituitary-adrenal reserve. CASE: We present two patients at risk of primary and secondary adrenal insufficiency with a poor response to 250 microg Synacthen. In both cases we confirmed low CBG concentrations but a normal free cortisol index (FCI), confirming normal pituitary-adrenal reserve. INTERVENTION: In case one, we have been able to avoid long-term steroid replacement therapy. We continue to reduce the steroid dose in case 2 but have been limited by the need for high-dose steroid treatment for exacerbations of the patient's airways disease. CONCLUSION: The use of TC in the assessment of the hypothalamic-pituitary-adrenal (HPA) axis may give rise to misleading results if the CBG concentration is low. The FCI may be a better marker of pituitary-adrenal reserve in these subjects. Clinicians should be cautious when interpreting abnormal cortisol results and we emphasize the importance of good clinical assessment.
Disorders of calcium metabolism.
Hypocalcaemia not associated with hypoalbuminaemia or 25(OH)-Vitamin D deficiency is rare and should be referred to a specialist clinic. 25(OH)-Vitamin D deficiency can often be treated safely by GPs, unless it is associated with renal impairment and secondary hyperparathyroidism, in which case a nephrology referral is required. An endocrine referral is required if deficiency is associated with pregnancy, co-existent primary hyperparathyroidism or the patient is receiving warfarin. The key role of the GP in managing hypercalcaemia is to distinguish between malignant and parathyroid causes in order to make the appropriate specialist referral (oncology, endocrine or renal). Severe hypercalcaemia (greater than 3.5 mmol/L or hypercalcaemia with dehydration, abdominal pain or reduced consciousness is a medical emergency.
Case management and community matrons for long term conditions.
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Diffusion of innovations: family planning in developing countries.
One of the best examples of the validity of the theory of "diffusion of innovations" is the case of family planning in developing countries. The desire of health, development and environment advocates in rich countries to make modern contraceptive use and lower fertility a norm in developing countries was translated into organized efforts to reach top-level leaders in these countries. Once on board, these high-level leaders cooperated with bilateral and international funding agencies as well as private foundations to develop mass media and community education campaigns, while simultaneously setting up clinic infrastructure; training doctors, nurses and outreach workers; and developing a new and varied "cafeteria" of modern methods. Over the intervening decades, this innovation was indeed diffused and became a norm, but not without its controversies and missed opportunities.
A mad house transformed: the lives and work of Charles James Beverly FRS (1788-1868) and John Warburton MD FRS (1795-1847).
Bethnal Green Asylum was the most notorious of the scandalous early nineteenth-century private madhouses exposed in two parliamentary Select Committees of 1815/16 and 1827. From being vilified as the worst asylum in the country, this huge and important institution was transformed over 15 years into one of the best by two determined men, both Fellows of The Royal Society, John Warburton MD, the proprietor, and Charles James Beverly, the medical superintendent, former naval surgeon, naturalist and Arctic explorer. This paper describes their hitherto unrecorded biographies.
The thyroid and the skeleton.
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The new Poor Law guardians and the administration of insanity in East London, 1834-1844.
One of the main aims of the Poor Law Amendment Act of 1834 was to impose national consistency of practice in poor relief. Central guidance was designed to produce uniformity in guardians' policies on dealing with the insane. This study of the administration of insanity in the eastern metropolis in the first decade after the Act demonstrates that the new boards of guardians were as culturally distinctive in their style of administration of the new Poor Law as the parishes had been under the old regime. A complex interplay of personality, politics, and class determined the corporate culture of individual boards.
Distribution of actin gene isoforms in the Arabidopsis leaf measured in microsamples from intact individual cells.
The contents of single plant cells can be sampled using glass microcapillaries. By combining such single-cell sampling with reverse transcription-polymerase chain reaction (RT-PCR), transcripts of individual genes can be identified and, in principle, quantified. This provides a valuable technique for the analysis and quantification of the intercellular distribution of gene expression in complex tissues. In a proof-of-principle study, the cellular locations of the transcripts of the eight isoforms of actin ( ACT) expressed in Arabidopsis thaliana (L.) Heynh. were analyzed. Cell sap was extracted from epidermal and mesophyll cells of leaves of 3- to 4-week-old plants. Single-cell (SC)-RT-PCR was used to amplify the actin transcripts using specific primer pairs for ACT1, 2, 3, 4, 7, 8, 11 and 12. Only ACT2 and ACT8 were found in epidermal and in mesophyll cells. In individual trichomes, in addition to ACT2 and ACT8, ACT7 and ACT11 transcripts were detectable. By employing the already well-characterized actin system we demonstrate the practicality and power of SC-RT-PCR as a technique for analyzing gene expression at the ultimate level of resolution, the single cell.
A retrospective assessment of the effectiveness of fenofibrate 267 mg on high-density lipoprotein cholesterol levels in patients attending a lipid clinic.
BACKGROUND: A high-density lipoprotein cholesterol level (HDL-C) <1 mmol/L is associated with increased cardiovascular morbidity and mortality. In clinical trials, fibrates have been shown to increase levels of HDL-C, with subsequent reduction in cardiovascular risk. OBJECTIVE: This study evaluated the use of fenofibrate 267 mg/d in a routine lipid clinic setting to determine how much HDL-C could be increased in everyday clinical practice. METHODS: Blood samples from patients who had taken fenofibrate 267 mg/d between 1998 and 2001 at the Lipid Clinic, Charing Cross Hospital, London, United Kingdom, were analyzed for changes in total cholesterol (TC), HDL-C, and triglycerides during follow-up. RESULTS: Sixty-five consecutive patients (49 men, 16 women; mean age, 54 +/- 1.2 years) were included in the study. The follow-up period ranged from 1 to 36 months (mean, 9.6 months +/- 26.7 days). Patients achieved a 6% overall increase in HDL-C, from 0.91 +/- 0.03 mmol/L to 0.97 +/- 0.03 mmol/L (P = 0.016). The TC/HDL-C ratio decreased by 21% from 7.0 +/- 0.3 mmol/L to 5.5 +/- 0.2 mmol/L (P < 0.001). Patients with lower levels of HDL-C at baseline (<0.9 mmol/L) showed the most improvement, with an 8% increase (P < 0.05). Twenty-eight patients (43%) reached a target HDL-C posttherapy value >1.0 mmol/L. Thirty-nine patients (responders) had increases in their HDL-C levels; 26 patients (nonresponders) had decreases or no change in their HDL-C levels. For the 26 (40%) patients in whom HDL-C did not increase, the TC/HDL-C ratio decreased by 12% from 6.5 +/- 0.3 mmol/L to 5.7 +/- 0.3 mmol/L (P = 0.003). CONCLUSIONS: Fenofibrate 267 mg/d is well tolerated and can achieve significant increases in HDL-C levels in clinical practice. However, these results should be confirmed in a larger routine clinical setting because of the discrepancies between the results of some clinical trials.
The Lunacy Commissioners and the East London Guardians, 1845-1867.
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