Histologically atypical case of Gaucher disease type 1.

This report presents a case of childhood Gaucher disease type 1, a rare inherited metabolic disorder. Although the clinical symptoms were classical, the histological findings in this case were atypical and initially led to diagnostic uncertainty. The pathognomonic histological finding on bone marrow is Gaucher cells, which are lipid-engorged phagocytes secondary to the accumulation of glucosylceramide. These cells typically demonstrate diffuse and avid iron staining using a Prussian blue iron stain. In this case, although the histiocytes seen on bone marrow were abnormal, the absence of iron staining on bone marrow led to a large range of other diagnoses being considered. In retrospect, this anomaly was likely in the setting of prolonged iron deficiency and anaemia as a result of the insidious nature of this presentation. The prognosis of type 1 Gaucher disease is favourable, with current treatments significantly improving duration and quality of life. We explore the utility of a collaborative multidisciplinary approach in addressing diagnostic uncertainty and the importance in making a diagnosis for Gaucher disease type 1 in order to provide appropriate and targeted treatment.

Improving Asthma Care Documentation with a Digital Tool-Experience in a Pediatric Institution.

BACKGROUND: Asthma affects approximately 10% of Australian children. Electronic medical record (EMR) systems and clinical decision support initiatives have been shown to improve the delivery of asthma care. Our institution implemented an EMR-based asthma "hub," which collates asthma-related information to a central location within a patient's record, provides a template to collect relevant clinical information, allows clinicians to evaluate a patient's history and presentation in a systematic manner and prompts relevant actions. OBJECTIVE: The aim of the study is to measure year-on-year improvement in asthma-related documentation and provide a key gold-standard aspects of asthma management after the introduction of an EMR asthma "hub" tool in the outpatient setting. METHODS: The asthma "hub" was introduced in November 2020. A chart review was conducted of all patients who attended the Complex Asthma Clinic between January-April 2020 and January-April 2021. The provision and presence of documentation of core aspects of asthma care were described in percentages and comparisons of pre- and post-introduction of the asthma "hub" were assessed. RESULTS: There was a significant increase in the documentation of asthma triggers, including smoking/smoker exposure, (47.5-92.6%, p <0.001), current asthma action plans (70.4-86.3%, p = 0.02), and severity scores (46.3-81%, p <0.001) post the introduction of the asthma "hub." There was no significant difference in documentation of reliever (as required) or regular preventer medications. CONCLUSION: An evidence-based EMR intervention improved the documentation and provision of aspects of asthma care in an outpatient clinic setting at a tertiary pediatric hospital, suggesting replication in the inpatient and emergency settings would be worthwhile. Further research is required to understand the tool's impact on clinical outcomes and on clinical efficiency and workflow.

Coughing up clues: 16-year-old girl with acute haemoptysis.

A 16-year-old previously well girl presented with bilateral painful lower leg swelling and non-pruritic blanching rash across her torso and upper and lower limbs. These symptoms started after commencing amoxicillin for presumed tonsillitis. She was diagnosed with serum sickness-like illness and started on non-steroidal agents. The rash and painful leg swelling improved over the next 48 hours. However, she subsequently developed fevers, cough and new-onset haemoptysis.She continued to deteriorate with increasing amounts of haemoptysis, work of breathing and escalating respiratory support requirements. Serial chest radiographs showed worsening lung consolidation and enlarging pleural effusion. A CT chest revealed extensive bilateral lung consolidation, most likely pulmonary haemorrhage. Subsequent investigations showed positive classic antineutrophil cytoplasmic antibody, confirming the diagnosis of granulomatosis with polyangiitis.

Nitric therapy in preterm infants: rationalised approach based on functional neonatal echocardiography.

AIM: Use of inhaled nitric oxide (iNO) in preterm infants is not supported by current evidence. In 2013, in Australia and New Zealand, 14% infants' ≤25 weeks of gestations were administered iNO. Within the cohort administered iNO, we aimed to identify subgroups where it may be more efficacious and compared characteristics before and after the set-up of the functional echocardiography (fEcho) programme. METHODS: A retrospective audit for the period 2000-2013 involving preterm infants administered iNO in the first four weeks of life was performed. Comparisons were made between the two time epochs: up to 2007 and post-2007. RESULTS: Eighty-five infants fulfilled the inclusion criteria; 62 (73%) were ≤28 weeks of gestation; 51 (60%) survived. Amongst survivors, gestation and birthweight were higher and oxygenation index (OI) was lower. Fourteen (16.5%) infants weighed small for gestation age; survival was lower in this subgroup (6/14, 43%, p = 0.0005). The fEcho programme increased prenitric assessments for a definitive diagnosis and monitoring; iNO was started earlier, at a lower OI with a trend towards reduced usage (hours). CONCLUSION: Characteristics of subgroups (within the cohort of infants ≤34 weeks of gestation) more likely to benefit from iNO therapy were identified. Use of fEcho could rationalise usage.

Palliative care in Australian medical student education.

Greater emphasis needs to be placed on medical student palliative care education within the Australian arena. The development of a comprehensive, relevant and practical educational curriculum in this area during medical school is imperative in order to adequately equip the future junior medical workforce. Further development of a national palliative care curriculum as well as research comparing various teaching methods and curricula should be the priorities in the near future.