Medicine (St Vincent's) - Research Publications
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ItemNo Preview AvailableDecrease in serum potassium levels post saline suppression test in primary aldosteronism: an under-recognised phenomenon?(NATURE PUBLISHING GROUP, 2016-11)Seventeen subjects with confirmed primary aldosteronism and stable serum potassium (K) levels ≥ 3.5 mmol l-1 underwent saline suppression testing. They were retrospectively evaluated for changes in serum K levels post test. We found that there was a significant decrease in serum K levels post saline suppression test (3.7 ± 0.05 vs 3.5 ± 0.08, P = 0.01). This effect of saline suppression testing on serum K levels is not well described. We conclude that a decrease in serum K is common post-saline suppression test, even in subjects who are normokalemic pretest. The factors which predispose to the decrease in serum K level post saline load remain unclear.
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ItemNo Preview AvailableAceruloplasminaemia: a disorder of diabetes and neurodegeneration(Wiley, 2017-01)Aceruloplasminaemia is a rare, autosomal recessive disorder of iron metabolism which results in iron deposition in the pancreas, brain, retina and liver. The clinical phenotype is distinctive: it typically leads to diabetes, anaemia and progressive neurodegeneration, but does not appear to cause functional retinal or hepatic impairment. We report an early case of aceruloplasminaemia in Australia and summarise the clinical sequelae and interesting aspects of their pathophysiology, especially that of diabetes. A Sri Lankan male was diagnosed with aceruloplasminaemia in 1994 age 44 years, after presenting with type 2 diabetes mellitus in 1989 associated with mild microcytic anaemia and abnormal iron studies. Significantly, he had low serum iron 6.4 (14.0–32 mmol/L) and serum copper 2.0 (12.5–18 μmol/L); normal transferrin 3.0 (2.0–3.6 g/L); and high ferritin 838 (40–20 μg/L). Liver biopsy showed an elevated iron content 9.91 mg/g dry weight (0.40–1.30 mg/g) with normal copper concentration 46 (15–70 μg/g), and no evidence of fibrosis. Empirical treatment with venesection resulted in profound anaemia suggesting a disorder of iron mobilisation. Ceruloplasmin was subsequently tested and found to be undetectable with a level of <0.05 (0.18–0.45 g/L) confirming a diagnosis of aceruloplasminaemia. Since diagnosis, his clinical sequelae have comprised insulin dependent diabetes, anaemia and ultimately progressive neurodegeneration involving psychosis, depression, dementia and Parkinsonism. Treatment has involved iron chelation together with insulin, oral hypoglycaemics, antipsychotics, antidepressants and donepezil. The patient now requires assistance with all activities of daily living. Aceruloplasminaemia was first described in 1987 and there are 56 case reports to date. Diabetes was developed by 85% of these patients and appears to be an early manifestation of this condition. The devastating neurodegenerative sequelae make early diagnosis and treatment essential. Screening should thus be considered when adult onset, antibody negative, insulin dependent diabetes is associated with anaemia and corroborative iron studies or unexplained neurodegenerative symptoms.
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ItemNo Preview AvailableHypokalaemia post-saline suppression test in primary hyperaldosteronism(Wiley, 2016-03)Background: Primary hyperaldosteronism (PHA) accounts for 5–10% of patients with hypertension (1). Saline suppression test (SST) is a commonly used confirmatory test in the diagnosis of PHA. Although potassium (K) is checked at baseline with recommendations to adequately replace prior to SST, there are no recommendations to routinely check potassium post-SST. This contrasts guidelines for the fludrocortisone suppression test (FST) which is known to cause hypokalaemia. A previous study monitored K levels post-SST in a subgroup of patients, and found a non-significant decrease (-0.05 0.2 mmol/L) in potassium levels post-SST (2). We report a retrospective series of patients who became hypokalaemic in the 2 h period post-SST. Methods: A retrospective audit was conducted of patients with con-firmed PHA who underwent SST between 2005 and 2015. Pre- and 2 h post-test potassium, aldosterone and renin levels were measured. Results are expressed as mean standard error of the mean (SEM) and number (%). Results: Twenty five patients were included in the final analysis; 13(52%) were males, and mean age 53 10.5 years. Overall, there was no difference in the mean pre- and post-SST potassium levels (p = 0.08). However, there was an inverse correlation between pre-SST K and the change in post-test K levels (p = 0.01); with the highest pre-test K patients experiencing the greatest decline in post-K levels. Eight (32%) were hypokalaemic (K < 3.5 mmol/L) pre-SST and required intravenous or oral K supplements. For patients that were normokalaemic pre-SST, there was a significant decrease in serum potassium levels post-SST (3.7 0.05 vs. 3.5 0.08,p = 0.01). Seven subjects (41%) who were normokalaemic pre-test became hypokalaemic post-SST; and 5 (29%) remained hypokalaemic on day 2. Conclusion: Hypokalaemia is common post-saline suppression test in primary hyperaldosteronism. The pathophysiology remains unclear. We recommend that potassium levels be routinely measured post-test and on day 2 to detect persistent hypokalaemia.
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ItemNo Preview AvailableFalse negative Ga68-DOTA-exendin-4 PET/CT in a patient with occult insulinomas(Wiley, 2017-01)Benign insulinomas are rare neuroendocrine tumours most commonly located in the pancreas. They are the most frequent cause of hyperinsulinaemia hypoglycaemia in adults without diabetes. Diagnosis can be challenging, and accurate localisation with surgical excision is the only cure. There is a growing body of evidence for the efficacy of Ga68-DOTA-exendin-4 (glucagon-like peptide-1 (GLP-1)) PET/CT scans, which centres on the premise that a near majority of insulinomas are ubiquitous for the GLP-1 receptor. We describe an 82 year-old woman with a history of fasting hyperinsulinaemic hypoglycaemia associated with neuroglycopaenic symptoms. Triple phase CT scan of the pancreas and a Ga68-DOTATATE PET/CT scan were both unremarkable. A Ga68-GLP-1 PET/CT scan showed diffuse pancreatic uptake consistent suggestive of pancreatic beta cell hyperplasia, or nesidioblastosis. The patient had further testing including an endoscopic ultrasound and calcium stimulation test which localised insulin hypersecretion to the body and tail of pancreas. Surgery revealed an insulinoma which was later con-firmed on immunohistochemistry to be GLP-1 receptor negative. Although GLP-1 scans are being increasingly used in clinical practice for work-up of hypoglycaemic disorders, they are expensive and not readily available. Clinical judgment is always crucial, and the differential of an insulinoma should not be ruled out on the basis of this scan.
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ItemDilemmas in metastatic differentiated thyroid cancer: To irradiate, medicate, or palliate?(Jaypee Brothers Medical Publishing, 2016-05-01)ABSTRACT Aims To explore the challenges in the management of metastatic differentiated thyroid cancer. Introduction Differentiated thyroid cancer (DTC) is the most common form of thyroid cancer. The initial diagnosis of thyroid carcinoma and the distinction between benign and neoplastic disease can be challenging. Radioiodine-refractory metastatic DTC also presents a therapeutic dilemma. Novel targeted agents for advanced radioiodine-refractory metastatic thyroid cancer, such as tyrosine kinase inhibitors (TKIs), are being increasingly used with clinical success, broadening current available therapeutic options. Case report We present the case of a 61-year-old woman with radioiodine-refractory metastatic follicular thyroid carcinoma, which was initially misdiagnosed as benign Hurthle cell adenoma. We focus on the challenges in both the initial diagnosis and the subsequent management of her advanced disease with skeletal dominant metastases. Conclusion The advent of targeted systemic therapies as emerging frontline and salvage therapy is a novel addition to the management of radioiodine-refractory advanced DTC. Further studies to expand the role of sequential and redifferentiation therapy for advanced disease and strategies to reduce skeletalrelated events are still required. How to cite this article Lee MH, Moxey JE, McLachlan S-A, MacIsaac RJ, Sachithanandan N. Dilemmas in Metastatic Differentiated Thyroid Cancer: To irradiate, medicate, or palliate? World J Endoc Surg 2016;8(2):168-171.
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ItemNo Preview AvailableHyponatraemia and hypopituitarism: an easily missed entity(AUSTRALASIAN MED PUBL CO LTD, 2017-10-02)
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ItemHow effective are family-based and institutional nutrition interventions in improving children's diet and health? A systematic review(BMC, 2017-10-17)BACKGROUND: Effective strategies to improve dietary intake in young children are a priority to reduce the high prevalence of chronic non-communicable diseases in adulthood. This study aimed to assess the impact of family-based and school/preschool nutrition programs on the health of children aged 12 or younger, including the sustainability of these impacts and the relevance to socio-economic inequalities. METHODS: A systematic review of literature published from 1980 to December 2014 was undertaken. Randomised controlled trials involving families with children aged up to 12 years in high income countries were included. The primary outcomes were dietary intake and health status. Results were presented in a narrative synthesis due to the heterogeneity of the interventions and outcomes. RESULTS: The systematic search and assessment identified 39 eligible studies. 82% of these studies were set in school/preschools. Only one school study assessed the impact of involving parents systematically. The family-based programs which provided simple positive dietary advice to parents and regular follow-up reduced fat intake significantly. School and family-based studies, if designed and implemented well, increased F&V intake, particularly fruit. Effective school-based programs have incorporated role-models including peers, teachers and heroic figures, rewards and increased access to healthy foods. School nutrition programs in disadvantaged communities were as effective as programs in other communities. CONCLUSIONS: Family and school nutrition programs can improve dietary intake, however evidence of the long-term sustainability of these impacts is limited. The modest overall impact of even these successful programs suggest complementary nutrition interventions are needed to build a supportive environment for healthy eating generally.
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ItemPeripheral neuropathy in the hands of people with diabetes mellitus(ELSEVIER IRELAND LTD, 2016-09)AIMS: Peripheral sensorimotor neuropathy is a recognised complication of diabetes mellitus however little attention has been given to its development in the hands. The aim of this study was to determine the prevalence of sensory impairment in the hands of participants with diabetes, the agreement between two measurement tools for assessing sensation and the association between hand sensibility, age, glycaemic control and end-organ damage. METHODS: A total of 162 participants were recruited and divided into two cohorts based on a diagnosis of diabetes. Participants were tested for the presence of hand neuropathy using Semmes-Weinstein monofilaments and the AsTex™. Medical records of participants with diabetes were accessed retrospectively to determine glycaemic control and diabetes complications. RESULTS: A highly statistically significant association was found between neuropathy and diabetes status (P<0.001) on monofilament testing. The prevalence of neuropathy was 64% compared to ∼10% amongst participants without diabetes. Age, male gender and diabetic retinopathy were associated with neuropathy. The AsTex™ identified participants with diminished protective sensation on monofilament testing. CONCLUSIONS: This study demonstrates a relationship between diabetes and upper limb neuropathy. Age, male gender and retinopathy were associated with diminished hand sensation. The AsTex™ may have a role as a screening tool for identifying clinically significant hand neuropathy.
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ItemDevelopment and pilot feasibility study of a health information technology tool to calculate mortality risk for patients with asymptomatic carotid stenosis: the Carotid Risk Assessment Tool (CARAT)(BIOMED CENTRAL LTD, 2015-03-24)BACKGROUND: Patients with no history of stroke but with stenosis of the carotid arteries can reduce the risk of future stroke with surgery or stenting. At present, a physicians' ability to recommend optimal treatments based on an individual's risk profile requires estimating the likelihood that a patient will have a poor peri-operative outcomes and the likelihood that the patient will survive long enough to gain benefit from the procedure. We describe the development of the CArotid Risk Assessment Tool (CARAT) into a 2-year mortality risk calculator within the electronic medical record, integrating the tool into the clinical workflow, training the clinical team to use the tool, and assessing the feasibility and acceptability of the tool in one clinic setting. METHODS: We modified an existing clinical flowsheet with the local electronic medical record for the CARAT risk model. To understand how CARAT would fit into the existing clinical workflow, we observed the clinic and talked with the clinical staff to develop a process map for the existing clinical workflow. CARAT was completed by the clinic nurse for patients identified on the clinic schedule as having carotid narrowing. We analyzed post-implementation assessment in two ways: quantifying the proportion of eligible patients with whom CARAT was utilized, and surveying surgeons to understand the impact of CARAT on decision-making and clinical workflow. RESULTS: With minimum investment of institutional resources, we were able to produce a workable tool and pilot the tool in our clinic within a 6 month time period. Over 4 months, 287 patients were seen in the clinic with carotid narrowing, and clinic staff completed CARAT for 195 (68%). Per-surgeon completion rates ranged from 29 to 81%. Most patients (191 of 195, 98%) patients had a low 2-year calculated mortality risk. Most surgeons believed the risk assessment aligned with their expectations of patient predicted risk. CONCLUSIONS: We successfully integrated CARAT into the existing electronic medical record and have preliminary evidence that CARAT can be a valuable tool for evaluating mortality risk for patients with diseased carotid arteries. Accuracy of the risk calculations must be evaluated in larger, multi-center studies.
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ItemNo Preview AvailableStreamlined genetic education is effective in preparing women newly diagnosed with breast cancer for decision making about treatment-focused genetic testing: a randomized controlled noninferiority trial(NATURE PUBLISHING GROUP, 2017-04)PURPOSE: Increasingly, women newly diagnosed with breast cancer are being offered treatment-focused genetic testing (TFGT). As the demand for TFGT increases, streamlined methods of genetic education are needed. METHODS: In this noninferiority trial, women aged <50 years with either a strong family history (FH+) or other features suggestive of a germ-line mutation (FH-) were randomized before definitive breast cancer surgery to receive TFGT education either as brief written materials (intervention group (IG)) or during a genetic counseling session at a familial cancer clinic (usual-care group (UCG)). Women completed self-report questionnaires at four time points over 12 months. RESULTS: A total of 135 women were included in the analysis, all of whom opted for TFGT. Decisional conflict about TFGT choice (primary outcome) was not inferior in the IG compared with the UCG (noninferiority margin of -10; mean difference = 2.45; 95% confidence interval -2.87-7.76; P = 0.36). Costs per woman counseled in the IG were significantly lower (AUD$89) compared with the UCG (AUD$173; t(115) = 6.02; P < 0.001). CONCLUSION: A streamlined model of educating women newly diagnosed with breast cancer about TFGT seems to be a cost-effective way of delivering education while ensuring that women feel informed and supported in their decision making, thus freeing resources for other women to access TFGT.Genet Med 19 4, 448-456.