Issues
Volume 216 Issue 2
News
News briefs
First step to revealing children at risk of developing epilepsy Findings from an international genetic study involving the University of Melbourne means it may now be possible to predict which children are more likely to develop epilepsy later in life based on their genotype. The study looked at febrile seizures in 7636 children from Denmark and Australia, identifying seven variant genes that researchers say now substantially improve our understanding of the underlying causes of seizures in young children. While most febrile seizures are benign and self‐limiting with no recurrence, about 7% of children who have the seizures will later develop epilepsy. Published in Brain, Professor Sam Berkovic and fellow University of Melbourne co‐authors, Associate Professor Michael Hildebrand and Professor Ingrid Scheffer, with colleagues from Denmark’s Statens Serum Institut, said three of the new genes produce presynaptic proteins that may turn out to be targets for new drug therapies, which would be particularly important for children who go on to develop epilepsy. “The link between febrile seizures and epilepsy has been known for years but its genetic underpinnings are only now emerging. GABRG2, a neurotransmitter receptor gene we discovered, is well established as an important gene for epilepsy associated with febrile seizures, and this new clear link to febrile seizures prior to development of epilepsy is another important piece in this puzzle.” Lead author, Dr Bjarke Feenstra, from SSI, said the study had also revealed genes that could identify the development of fevers in mammals. “The connections to fever response are intriguing. We hypothesise that genetic changes that affect the way the prostaglandin receptor (PTGER3) and interleukin (IL10) immune system genes normally function in mediating response to infections may lead to a more pronounced fever, which in turn could increase the susceptibility of children suffering febrile seizures.” https://academic.oup.com/brain/advance‐article/doi/10.1093/brain/awab260/6503584 Pinpointing disease progression in ALS An international collaboration led by Flinders University has identified a potential biomarker for amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND), providing a way to test the effectiveness of future clinical trials. Published in the European Journal of Neurology, the team identified that the concentration of neopterin – a small molecule released by immune cells in response to inflammation and secreted in urine – increased as ALS/MND progressed. The research looked at 46 people with ALS/MND and 21 healthy controls, using a number of biological and neurological tests and then followed the progress of 19 people with ALS/MND, examining urine samples and clinical data over a 2–3year period. The authors found the concentration of neopterin was higher in those with ALS/MND, with the concentration also increasing each month as the disease progresses. This novel biomarker adds to another urinary biomarker, p75ECD, previously identified by the research team as being able to identify ALS/MND disease progression. The researchers say both biomarkers can be used as quantifiable measures of the severity of motor neuron degeneration in ALS and in future treatment trials. “In undertaking research to treat MND, it’s important we have a way of identifying its progress and to see if the treatment is working,” they said. “Both biomarkers have the potential to be used in future phase 2 and 3 clinical trials as a way of determining if a drug treatment is working. Furthermore, as neopterin is produced by immune cells, it could also be useful in trials that target the immune system.” https://onlinelibrary.wiley.com/doi/10.1111/ene.15237
Perspectives
Uncontrolled blood pressure in Australia: a call to action
A national commitment to improved blood pressure control would lead to significant health and economic gains
Aletta E Schutte · Ruth Webster · Garry Jennings · Markus P Schlaich
3D printing: potential clinical applications for personalised solid dose medications
Three- dimensional printing or additive manufacturing has the potential to transform personalised medicine
Liam Krueger · Jared A Miles · Kathryn J Steadman · Tushar Kumeria · Christopher R Freeman · Amirali Popat
High value health care is low carbon health care
Culling low value care will cut health care carbon emissions
Alexandra L Barratt · Katy JL Bell · Kate Charlesworth · Forbes McGain
Medical education
Cryptogenic neuropsychiatric presentations diagnostic delay in Cryptococcus gattii meningoencephalitis at a regional Australian tertiary hospital
A 70-year-old man was admitted for investigation of confusion, agitation and falls
Andrew P Gador‐Whyte · Jared Harris · Karen Gunanayagam · Aaron Walton · Andrew Hughes · Eugene Athan
Lymphocytic choriomeningitis virus in western New South Wales
A 51-year-old man presented with a 24- hour history of headache, neck stiffness, photophobia and lower abdominal rash
Rhiannon L Holdsworth · Elizabeth Downie · Matthew J Georgiades · Ross Bradbury · Julian Druce · James Collett
Vision loss and methamphetamine use
A 57-year-old man presented with a 2-day history of painless vision loss in his left eye
Yi Fan Tang · Elaine Chong
Functional hypothalamic amenorrhoea: a diagnosis of exclusion
Functional hypothalamic amenorrhoea is common but often misdiagnosed, risking inappropriate management and compromised patient education and counselling
Elisabeth Ng · Shoshana Sztal‐Mazer · Susan R Davis
Editorials
Reducing the number of unplanned returns to hospital after treatment for peripheral artery disease
Improved, integrated care for older patients with complex medical needs could avert some modifiable causes of readmission
Bethany Stavert · Sarah Aitken
The reality of mental health care for young people, and the urgent need for solutions
We must acknowledge the magnitude of the problem and show some urgency in implementing reform
Patrick D McGorry
Research
Incidence and causes of early unplanned readmission after hospitalisation with peripheral arterial disease in Australia and New Zealand
Early unplanned readmissions are often potentially preventable; averting them could improve clinical outcomes for people with PAD
Vanessa Woelk · Peter Speck · Billingsley Kaambwa · Robert A Fitridge · Isuru Ranasinghe
Social and occupational outcomes for young people who attend early intervention mental health services: a longitudinal study
Young people need dynamic service models that emphasise multidisciplinary interventions and measurement-based care
Frank Iorfino · Joanne S Carpenter · Shane PM Cross · Jacob Crouse · Tracey A Davenport · Daniel F Hermens · Hannah Yee · Alissa Nichles · Natalia Zmicerevska · Adam Guastella · Elizabeth M Scott · Ian B Hickie
Research letter
The clinical value of “exception item” colonoscopy (MBS item 32228)
About one in five “exception” colonoscopies detect and excise advanced pre-cancerous polyps
Michelle Lee See · Antonio Lee · Roderick Roberts · Richard A Friedman · David G Hewett · Daniel L Worthley
Narrative review
Fertility, pregnancy and post partum management after bariatric surgery: a narrative review
Women who undergo bariatric surgery should be managed in the perinatal period with a multidisciplinary team to improve pregnancy-related outcomes
Sarah Cheah · Yijun Gao · Shirley Mo · Georgia Rigas · Oliver Fisher · Daniel L Chan · Michael G Chapman · Michael L Talbot
Letters
An Australian case of multisystem inflammatory syndrome in an adult during the 2021 SARS‐CoV‐2 Delta outbreak
TO THE EDITOR: Multisystem inflammatory syndrome in children (MIS‐C) or adults (MIS‐A) is a rare but severe systemic inflammatory syndrome,1 with an epidemiological peak occurring 4–6 weeks after severe acute respiratory syndrome coronavirus‐2 (SARS‐CoV‐2) outbreaks.2 Also known as paediatric inflammatory multisystem syndrome temporally associated with SARS‐CoV‐2, MIS‐C is the subject of active surveillance across paediatric centres.3 The peak age for the syndrome is 9 years,1 although cases have been reported in adults.4 We report, to our knowledge, the first Australian case of MIS‐A, diagnosed 2 months into the SARS‐CoV‐2 Delta outbreak in New South Wales, with 60 075 coronavirus disease 2019 (COVID‐19) notifications in the period 29 June to 4 October 2021.5 A 42‐year‐old woman presented with 7 days of subjective fevers, myalgia, light‐headedness, abdominal pain, nausea, palpitations and non‐pleuritic chest pain. Presentation occurred 27 days after acute COVID‐19 pneumonitis, confirmed by polymerase chain reaction and serology testing. The acute illness was mild, requiring neither oxygen nor hospitalisation, and the patient recovered fully 72 hours before onset of this new symptom complex. She was unimmunised against SARS‐CoV‐2. The patient was febrile (38.2°C), with tachycardia (114 beats per minute) and hypotension (79/56 mmHg) but no respiratory distress. She had bilateral conjunctival injection, a widespread blanching macular rash (Box), and oedema of the hands bilaterally. There was no lymphadenopathy or oral mucosal change. Investigations revealed significant inflammation, with a raised C‐reactive protein level (119 mg/L; reference interval [RI], ≤ 4 mg/L), lymphopenia (0.5 × 109/L; RI, 1.0–4.0 × 109/L), thrombocytopenia (74 × 109/L; RI, 150‐400 × 109/L), neutrophilia (12.2 × 109/L; RI, 2.0–8.0 × 109/L), deranged liver function tests (alanine transaminase, 160 U/L; RI, 10–35 U/L), and hypoalbuminemia (20 g/L; RI, 35–50 g/L). Her D‐dimer level was raised (2.34 mg/L; RI, < 0.5 mg/L), as was her brain natriuretic peptide level (1660 ng/L; RI, ≤ 125 ng/L); troponin and creatine kinase levels were normal. Blood and urine cultures were negative, and anti‐streptolysin O and anti‐DNase B titres were not raised. No echocardiographic evidence of myocarditis was seen, and there was no coronary artery dilatation. The patient responded to two doses of intravenous immunoglobulin (2 g/kg each) following 48 hours of inotropic support (metaraminol infusion then low dose noradrenaline). Aspirin (3 mg/kg daily) was administered, as well as intravenous antibiotics for 72 hours while cultures were pending. MIS‐A was diagnosed on the basis of current case definitions,6,7 although the patient also fulfilled criteria for probable toxic shock syndrome, as described in other case series.8 Adults and adolescents with MIS‐A typically present with multisystem involvement, often incorporating myocarditis, shock and gastrointestinal features,4,9 whereas younger children present more commonly with a Kawasaki disease‐like illness.9 Given the absence of specific diagnostic markers, the overlapping phenotype with toxic shock syndrome and the poor sensitivity of cultures and serological markers for these alternative diagnoses, such differentials must be carefully considered in the early phase of illness. Nonetheless, clinicians should be aware of MIS‐C or MIS‐A in patients presenting with shock, mucocutaneous changes and/or gastrointestinal symptoms, even without preceding symptomatic SARS‐CoV‐2 infection. Prompt treatment with intravenous immunoglobulin and/or steroids is essential to minimise long term morbidity from coronary artery dilatation.1 Although rare, further cases of MIS‐C and MIS‐A are anticipated following increasing COVID‐19 case notifications in NSW and Victoria. This letter was published as a peer‐reviewed Accepted Article (prior to structural editing and typesetting) on 14 October 2021. Box – Bilateral conjunctival injection (A) and diffuse blanching macular rash (B) in an adult with multisystem inflammatory syndrome
Annaleise R Howard‐Jones · Sam R Orde · Zoe Jennings
The Queensland Inpatient Diabetes Survey (QuIDS) 2019: the bedside audit of practice
To the Editor: We congratulate Donovan and colleagues1 on their snapshot bedside audit of 850 inpatients with diabetes across 27 Queensland hospitals. The results in their audit identified current strengths and deficits in inpatient diabetes management. These efforts will be invaluable to the planning of future improvement interventions in Australia. Inpatient diabetes management centres on improving glycaemia, as measured by reducing incident hypo‐ and hyperglycaemia, in order to reduce the consequences of dysglycaemia. While auditing bedside practice is important, it describes only part of the picture of inpatient diabetes. The complementary counterpart that augments the value of such auditing is the process of glucometric assessment, which is being enabled by the introduction of point‐of‐care networked blood glucose monitoring in Australian hospitals, with the first hospital‐wide system instituted in 2019.2 Glucometry involves collecting all blood glucose measures for inpatients throughout an admission and calculating mean and threshold indices of glucose management, which assists bedside care as well as enabling virtual glycaemic care programs.3 The potential synergy between glucometric assessment and bedside practice audits arises when these audits identify a change in practice within a hospital. Any resulting changes in that institution’s glucometric trends will provide quantitative information about the value of that practice change. This will enable the widespread dissemination and adoption of those practices found to have the greatest beneficial effects on glycaemia, and will provide an evidence base for generating national standards.4,5 Similarly, after adjusting for differences and variability in patient populations, glucometric benchmarking enables comparisons to be made between hospitals.6 When cross‐referenced with differences in practice, as identified by audits such as the Queensland Inpatient Diabetes Survey (QuIDS),1 the effects of these differences may be determined and their independent value thus broadly quantified. We applaud the increasing national adoption of both electronic medical records and networked blood glucose monitoring, enabling future glucometric benchmarking.7 In the face of the ever‐increasing prevalence of diabetes in hospitals,8 it is crucial for all those involved in inpatient diabetes care to champion the twin quality procedures of auditing bedside practice and glucometric benchmarking. It is only together that these processes can best help us achieve optimal outcomes in hospital for people with diabetes.
Rahul D Barmanray · Mervyn Kyi · Spiros Fourlanos
The Queensland Inpatient Diabetes Survey (QuIDS) 2019: the bedside audit of practice
In reply
Peter Donovan · Benjamin P Sly · Gaurav Puri
A guide for medical practitioners transitioning to an encore career or retirement
To the Editor: I commend Wijeratne and Earl1 for drawing attention to the retirement issues faced by doctors. Psychological issues are compounded by the lack of legislative provision for doctors to progressively step down from the demands of full registration. Reducing workload is not a simple matter. The impediments to maintaining registration while reducing workload include recency of practice requirements and up to 73 hours per annum of continuing professional development (CPD) for physicians2 — far exceeding that of other health practitioners. Encore careers as described by the authors, while rewarding, could cause issues with the scope of practice requirements. Current guidelines around the definition of “practice of medicine”,3 unless changed, could find doctors practising medicine without a licence. Eighty‐eight per cent of doctors in a local medical association survey (131 respondents; response rate 27%) supported a step‐down approach, with 59% (of 113 respondents) supporting reduced CPD requirements.4 Many doctors see their profession as a calling and retain a strong desire to serve their communities both before and after retirement. Dignity and respect are key to effective transitions to retirement. Doctors often leave the profession on a sour note because their attempts to maintain registration in order to give back to their communities flounder under current regulations. There is despondency around the lack of recognition of their significant expertise and lack of regulator foresight in how to use the vast resource of senior doctors (eg, pandemics, fires, floods, community health needs). Australia appears to lag behind other countries in this regard. In the United States, states such as Pennsylvania offer retiring and retired doctors volunteer licences through their medical boards to volunteer their services for community health programs.5 The Australian Senior Active Doctors Association and the Australian Medical Association Queensland Senior Doctor Craft Group are working to achieve a step‐down approach.6 Other professions recognise and encourage the active participation of retired members; for example, retired lawyers in several states, including Queensland,7,8 can apply for free practising certificates to undertake pro bono work. In many cultures, “senior” is synonymous with wisdom, leadership and excellence. While retirement planning is important, so is addressing practices and regulations that undermine and limit the value that senior doctors can bring to their communities as they transition through the latter stages of their careers.
Geoffrey Hawson
A guide for medical practitioners transitioning to an encore career or retirement
In reply
Chanaka Wijeratne · Joanne Earl
Retraction
Retracted: Preparing Australasian medical students to practise environmentally sustainable health care
Retraction: Madden DL, Horton GL and McLean M. Preparing Australasian medical students to practise environmentally sustainable health care. Med J Aust 2020; https://doi.org/10.5694/mja2.50585.
Geneticists top medical honour board
Cate Swannell
A large trial of screening for gestational diabetes mellitus in the United States highlights the need to revisit the Australian diagnostic criteria
Jenny A Doust · Paul P Glasziou · Michael C dʼEmden
Using after‐action reviews of outbreaks to enhance public health responses: lessons for COVID‐19
Craig B Dalton · Martyn D Kirk · David N Durrheim
Patient‐reported outcome measures (PROMs) to guide clinical care: recommendations and challenges
For the HSRAANZ PROMs Special Interest Group *
The health impacts of dowry abuse on South Asian communities in Australia
Manjula O'Connor · Amanda Lee
What doctors should consider before prescribing e‐liquids for e‐cigarettes
Miranda P Ween · David G Chapman · Alexander N Larcombe