Volume 211 Issue 4

Academic publishing is on an irreversible path to change

Virginia Barbour

The 2018 Australian guidelines’ recommendations require further clarifications to ensure eligible patients will receive appropriate ICD therapy

Dennis H Lau · Jonathan M Kalman · Prashanthan Sanders

Diagnosis of autoimmune ?-cell disorder before end-stage clinical type 1 diabetes is a key step towards the prevention of this disease

Jennifer J Couper · Leonard C Harrison

Developing strategies to reduce both the transmission of important pathogens and antimicrobial resistance is of paramount importance

Freya Langham · Allen C Cheng

To help PNG prevent and respond to infectious disease outbreaks of domestic and international concern, Australia must continue to provide high level technical and financial support

John J Hall · Tabian Ambang · Augustine Asante · Pili Mapira · Adam Craig · Elisabeth Schuele · Maha Pervaz Iqbal

A 32- year- old Australian- born, human immunodeficiency virus (HIV) negative man presented to hospital with 3 days of cramping abdominal pain, diarrhoea and fevers, 5 days after having unprotected receptive anal intercourse

Hui‐Ling Yeoh · Victoria Hall · Deborah A Williamson · Bradley J Gardiner

A 76- year- old man with no significant past medical history presented with a 4- month history of a rapidly growing left nasojugal mass

Phillip Cantwell · Helena Van Dam

Will the rise of open access journals spell the end of the subscription model?

Christine E Gee · Nicholas J Talley AC

Tapping their diverse skills can benefit not only students, but also patients and health care teams

Stuart Carney

Tensions between practice and policy, and between student learning and patient safety require careful balance

Anna Therese Ryan · Caleb Fisher · Neville Chiavaroli

Glucometric analysis supported by networked glucose meter technology can promote safe diabetes care in hospitals

Mervyn Kyi · Peter G Colman · Lois M Rowan · Katie A Marley · Paul R Wraight · Spiros Fourlanos

Strategies for helping parents manage the screen time of their children from early infancy should be investigated

Leigh Tooth · Katrina Moss · Richard Hockey · Gita D Mishra

Leprosy remains a significant problem in PNG, and assistance from Australia would help both countries

Allison Hempenstall · Simon Smith · Josh Hanson

Antithrombotic treatment is gold standard and effective

Veronica Mezhov · Julian D Segan · Huyen Tran · Flavia M Cicuttini

To the Editor: Based on Fremantle Diabetes Study Phase 2 (FDS2) data, we reported in this Journal that the prevalence of maturity‐onset diabetes of the young (MODY) and permanent neonatal diabetes in an urban Australian population was 0.24% and 0.12%, respectively, of people diagnosed with diabetes.1 A further FDS2 participant among those identified as probably having MODY by clinical risk prediction was the only one with a novel heterozygous missense variant (Ala161Thr) in the KCNJ11 gene which encodes the pore‐forming KIR6.2 subunit of the pancreatic β‐cell adenosine triphosphate‐dependent potassium channel.2 This variant was not considered to be a cause of MODY at the time of our publication in 2017,1 but evidence has since emerged that it is a pathogenic activating mutation. It has been identified in two other patients with neonatal diabetes diagnosed before 9 months of age who were responsive to sulfonylurea therapy, and in another diagnosed at 14 years of age who was glutamic acid decarboxylase and islet antigen 2 antibody negative, and had a low (5th percentile) type 1 genetic risk score,3 a body mass index of 21, a stimulated serum C‐peptide concentration of 289 pmol/L (fasting range, 260–1030 pmol/L) 11 years after diagnosis, and a family history of non‐insulin‐requiring diabetes in her brother and mother (both diagnosed at 18 years of age) and maternal uncle and grandfather (unpublished data, Molecular Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust). Our patient with this novel MODY mutation was also diagnosed with diabetes at 14 years of age. At 19 years of age, she was glutamic acid decarboxylase and islet cell antibody negative, and had a body mass index of 28.7 and a serum C‐peptide concentration of 660 pmol/L with a simultaneous plasma glucose level of 8.2 mmol/L. Her glycated haemoglobin level was 6.8% (51 mmol/mol) on metformin monotherapy. She remained well controlled on metformin at FDS2 assessments at 23 and 25 years of age (glycated haemoglobin ≤ 6.4% or ≤ 46 mmol/mol), but subsequently progressed to requiring insulin. Patients with diabetes due to an activating KCNJ11 gene mutation have a defect in insulin secretion and, in most cases, can be treated successfully with sulfonylurea. This includes those who have been treated with insulin previously (our FDS2 participant has recently been offered this transition).4 Activating variants in the KCNJ11 gene are likely to cause permanent neonatal diabetes, MODY or transient neonatal diabetes that remits and can subsequently relapse during the teenage years.5 Each of our participant's offspring will have a 50% risk of inheriting this variant and thus developing neonatal and/or later onset diabetes. This new variant means that MODY prevalence has increased to 0.29% of people diagnosed with diabetes, or 107 per million of the Australian population, compared with 0.24% or 89 per million in our original publication.1 All MODY and permanent neonatal diabetes cases in the FDS2 cohort were people of European ancestry,1 and the participant newly identified with MODY was of Eurasian background. The present case illustrates the clinical and genetic heterogeneity of monogenic diabetes. The discovery of new variants allows improved understanding of the pathophysiology and treatment of diabetes in young people.

Timothy ME Davis · Ashley E Makepeace · Kirsten Peters · Kevin Colclough · Wendy A Davis

To the Editor: We agree with San Martin Porter and colleagues1 about the importance of mental health screening during pregnancy and acknowledge the role of the Edinburgh Postnatal Depression Scale (EPDS) in screening in Australia and internationally. In the article, the authors stressed that the EPDS has been validated. However, the high heterogeneity demonstrated during these validation studies suggests that it is not equally valid across all populations and settings.2 The authors also suggested that low uptake of screening with Aboriginal women is related to less frequent attendance to antenatal checks. This interpretation fails to consider broader cultural safety issues surrounding antenatal care, and more specifically, the language and cultural appropriateness of the EPDS.3 This tool has not been validated with Aboriginal and Torres Strait Islander women. Many Aboriginal women find the EPDS language complex and confusing, and providers find using it with Aboriginal women challenging.3 Screening processes need to be acceptable to patients and staff, and seen to be easy to use and helpful, or they are unlikely to be well implemented. The need to consider the language and cultural appropriateness of the tool used was acknowledged in the latest Clinical practice guidelines: pregnancy care.4 The Kimberley Mum's Mood Scale (KMMS) is a locally designed approach to screening Aboriginal women.3 Part 1 is an adaption of the EPDS. Part 2 is a “yarn” between health professionals and women about contextual or psychosocial factors that are important to the women. Health professionals work with women to identify how they are coping (strengths focus) without minimising risk factors. Validation of the KMMS demonstrated clinical efficacy and high levels of user acceptability.5 Women identified that “just yarning” was a positive start to understanding and managing their perinatal mental health. An approach such as the KMMS, which values listening (health professional) and talking (woman), is a positive, contemporary and logical next step from the EPDS. We suggest that all women, Aboriginal and non‐Aboriginal, would benefit from this approach. Traditional screening practices are not enough, but the next generation of screening tools provides new opportunities for women and their health professionals.

Julia V Marley · Emma Carlin · Catherine Engelke

In reply

Macarena A San Martin Porter · Steve Kisely · Rosa Alati

To the Editor: We agree with Catalano and colleagues1 that nicotine liquid needs to be regulated. However, we feel that their letter overstates the risk from nicotine poisoning. The authors state that the minimum potentially lethal dose of nicotine in humans is 60 mg, but the reference used for this claim actually estimates a far higher minimum lethal dose of 500–1000 mg.2 While it is correct to say that the “ingestion of even a small volume could cause serious harm or even death,” the reality is less worrying. The bioavailability of ingested nicotine is as little as 20% due to hepatic first pass metabolism.3 Furthermore, most cases of significant ingestion result in prompt vomiting.4 A recent review of all cases of nicotine exposure reported to the Australian Poisons Information Centres between 2009 and 2016 found that most cases resulted in only mild gastrointestinal symptoms.5 We agree with the recommendation to mandate safety labelling and childproof packaging to reduce risk. However, regulation needs to go further; legalising and enforcing quality and safety standards would help to ensure a safer product and minimise unwanted contamination, as found in a recent Australian study.6 Vaping has a potential role in reducing smoking‐related disease in Australia. A recent large randomised controlled trial demonstrated that vaping is nearly twice as effective as nicotine replacement therapy.7 Regulation needs to find a balance between reducing the risk to children and non‐smokers while making high quality reduced‐risk products available to smokers who are otherwise unable to quit. Overly restrictive regulations are likely to have a net negative effect on public health.

Colin P Mendelsohn · Alex D Wodak

In reply

Anthony C Catalano · Noel E Cranswick · Joanne Grindlay · Mick Creati · Margie H Danchin · Jeff Robinson · Nicola Williams · Amanda Gwee

To the Editor: Patients presenting to an emergency department (ED) may be unable to communicate with treating clinicians. Immediate access to emergency medical information is essential to providing optimal care and avoiding harm. Smartphone medical alert apps, such as those pre‐installed on the two major operating systems (iOS [Apple], Android [Google]), allow patients to store emergency medical information that is accessible to clinicians when a patient is incapacitated and the smartphone is locked. Similar to medical alert bracelets, these apps are designed to store basic emergency medical information. Via a self‐administered app, patients can record as much emergency medical information as they feel comfortable sharing. This information can be rapidly accessed from the smartphone's locked screen, bypassing default security features. We recently asked a convenience sample of 250 adult ED patients, well enough to complete a survey, to complete a questionnaire assessing their smartphone usage, familiarity, attitudes and barriers towards storing emergency medical information on smartphone apps. Ethics approval was obtained through the St Vincent's Hospital Melbourne Human Research Ethics Committee. Two hundred patients completed the survey. The mean age of respondents was 39 years (95% CI, 37–41 years). Most owned a smartphone and had it with them in the ED. Only 15% (31/200) currently used an emergency medical information app, with most using the default pre‐installed app. The commonest barrier to use was a lack of awareness or familiarity with the app. Once informed, most patients (97%; 194/200) were willing to use such an app in the future (Box). Patients who have privacy and security concerns about the government‐controlled My Health Record may view storing emergency medical information on smartphones as a safer option. The depth of information on a smartphone would be considerably less than that accessible via My Health Record, but in an emergency, some information is better than none. Using smartphones to store emergency medical information may lead to better emergency care for incapacitated patients. There is enthusiasm from patients to embrace this technology. General practitioners and other clinicians are well placed to inform patients and facilitate its adoption. ED clinicians should be encouraged to check the phones of incapacitated patients in the initial assessment and triage phase for the presence of potentially lifesaving information. Box – Number of patients currently storing or prepared to store emergency medical information on a smartphone app, by type of information Currently storing (n = 31) Prepared to store (n = 194) Number 95% CI Number 95% CI Name 27 (87%) 74–97% 171 (88%) 84–93% Date of birth 26 (84%) 71–94% 148 (76%) 70–82% Emergency contact 21 (68%) 48–84% 179 (92%) 88–96% Medical conditions 16 (52%) 36–68% 168 (87%) 81–91% Medications 11 (36%) 19–52% 162 (84%) 78–89% Allergies 9 (29%) 14–48% 177 (91%) 87–95% Organ donor status 11 (36%) 19–52% 173 (89%) 85–94% Blood type 13 (42%) 26–58% 184 (95%) 92–98%

Weiyu Fang · Rachel Zordan · Stuart J Dilley