2,353 results match your criteria: "Prince Henry’s Institute of Medical Research[Affiliation]"

Purpose: Polysomnography (PSG) may be completed in the home environment (unattended), and when self-applied, allow the collection of data with minimal healthcare worker intervention. Self-applied, unattended PSG in the home environment using Somte PSG V2 (Somte) has not been validated in pregnant women in early to mid-gestation. We undertook a study to evaluate the accuracy of Somte compared to attended PSG.

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Aim: To determine the direct health service costs and resource utilization associated with diagnosing and characterizing idiopathic inflammatory myopathies (IIMs), and to assess for limitations and diagnostic delay in current practice.

Methods: A retrospective, single-center cohort analysis of all patients diagnosed with IIMs between January 2012 and December 2021 in a large tertiary public hospital was conducted. Demographics, resource utilization and costs associated with diagnosing IIM and characterizing disease manifestations were identified using the hospital's electronic medical record and Health Intelligence Unit, and the Medicare Benefits Schedule.

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Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA as a novel syndromic NDD gene.

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Study Objectives: Symptom impact and neurocognitive function have not been previously compared between patients with obesity-associated hypoventilation disorders (obesity hypoventilation syndrome [OHS]) and hypoventilation in the setting of obesity and obstructive airways disease (OHAD). The aim of this study is to compare baseline sleep-related symptoms, health-related quality of life, and neurocognitive function between OHS and OHAD and the impact of PAP therapy on these outcomes.

Methods: Epworth Sleepiness Scale (ESS), Pittsburgh Sleepiness Quality Index (PSQI), SF36, and various neurocognitive tests, in addition to anthropometric, polysomnography, lung function, and blood gas data from participants with OHS and participants with OHAD, were included in the analysis.

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Article Synopsis
  • The study compared cardiac metabolite and lipid usage between healthy individuals and those with heart failure with preserved ejection fraction (HFpEF).
  • Findings indicated that hearts with HFpEF use fatty acids less efficiently and that hemodynamic factors, like pulmonary pressures, impact lipid extraction.
  • Additionally, there were notable differences in energy substrate use based on sex, with variations observed between female and male hearts.
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Background: Weight reduction is a standard recommendation for obstructive sleep apnea (OSA) treatment in people with obesity or overweight; however, weight loss can be challenging to achieve and maintain without bariatric surgery. Currently, no approved anti-obesity medication has demonstrated effectiveness in OSA management. This study is evaluating the efficacy and safety of tirzepatide for treatment of moderate to severe OSA in people with obesity.

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Article Synopsis
  • There is a growing interest in using historical patient data as synthetic controls for evaluating new drugs, but real-world outcomes often don't match those from clinical trials due to a lack of detailed cancer treatment data.
  • The Australasian Leukaemia and Lymphoma Group's National Blood Cancer Registry (ALLG NBCR) provides comprehensive information on various factors influencing treatment outcomes, allowing for a comparison of 942 AML patients to clinical trial data for five specific drugs.
  • The analysis reveals significant differences in treatment approaches and outcomes between real-world patients and clinical trial participants, indicating that while some results may align, discrepancies must be considered for accurately assessing the effectiveness of new therapies across different populations.
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Heart rate variability analysis in obstructive sleep apnea patients with daytime sleepiness.

Sleep

June 2024

Charles Perkins Centre and Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.

Article Synopsis
  • Recent research indicates that sleepy individuals with obstructive sleep apnea (OSA) may face an increased risk of developing cardiovascular disease (CVD).
  • The study compared heart rate variability (HRV) between sleepy and non-sleepy OSA patients to assess cardiac autonomic function, finding that sleepy patients generally had lower HRV values.
  • The results suggest that sleepy patients, especially those with moderate-to-severe OSA, experience reduced parasympathetic activity, which could help explain the connection between sleepiness and heightened CVD risk in OSA.
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Background: Hypertrophic cardiomyopathy (HCM) is often linked to systolic anterior motion (SAM) of the mitral valve, typically resulting in a posteriorly directed mitral regurgitation (MR) jet. An anteriorly directed MR jet suggests additional mitral valve pathology that may not be resolved by myectomy alone.

Case Summary: A 58-year-old construction worker with no significant medical history experienced a syncopal event and was admitted to the emergency department with acute pulmonary oedema.

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The effect of a single dose of nivolumab prior to isolated limb perfusion for patients with in-transit melanoma metastases: An interim analysis of a phase Ib/II randomized double-blind placebo-controlled trial (NivoILP trial).

Eur J Surg Oncol

June 2024

Sahlgrenska University Hospital, Department of Surgery, Gothenburg, Sweden; Sahlgrenska Center for Cancer Research, Department of Surgery, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Wallenberg Centre for Molecular and Translational Medicine, University of Gothenburg, Gothenburg, Sweden. Electronic address:

Objective: ILP has shown to achieve high response rates in patients with melanoma ITM. Possibly there is a synergistic mechanism of action of ILP and anti-PD1. The aim of this trial was to investigate the safety and efficacy of adding a single dose of systemic anti-PD1 to isolated limb perfusion (ILP) for patients with melanoma in-transit metastases (ITM).

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Background: Low-dose combinations are a promising intervention for improving blood pressure (BP) control but their effects on therapeutic inertia are uncertain.

Methods: Analysis of 591 patients randomized to an ultra-low-dose quadruple pill or initial monotherapy. The episode of therapeutic inertia was defined as a patient visit with a BP of >140/90 mm Hg without intensification of antihypertensive treatment.

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Allergic rhinitis (AR) is a chronic respiratory condition that internationally continues to be burdensome and impacts quality of life. Despite availability of medicines and guidelines for healthcare providers for the optimal management of AR, optimisation of its management in the community continues to be elusive. The reasons for this are multi-faceted and include both environmental and healthcare related factors.

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Background: The durability of heterologous COVID-19 vaccine effectiveness (VE) has been primarily studied in high-income countries, while evaluation of heterologous vaccine policies in low- and middle-income countries remains limited.

Objective: We aimed to evaluate the duration during which the VE of heterologous COVID-19 vaccine regimens in mitigating serious outcomes, specifically severe COVID-19 and death following hospitalization with COVID-19, remains over 50%.

Methods: We formed a dynamic cohort by linking records of Thai citizens aged ≥18 years from citizen vital, COVID-19 vaccine, and COVID-19 cases registry databases between May 2021 and July 2022.

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Effect of Azithromycin on Asthma Remission in Adults With Persistent Uncontrolled Asthma: A Secondary Analysis of a Randomized, Double-Anonymized, Placebo-Controlled Trial.

Chest

August 2024

Centre of Excellence in Treatable Traits, College of Health, Medicine and Wellbeing, University of Newcastle, Hunter Medical Research Institute Asthma and Breathing Programme, Newcastle, NSW, Australia; Department of Respiratory and Sleep Medicine, John Hunter Hospital, Newcastle, NSW, Australia.

Background: Asthma remission is a potential treatment goal.

Research Question: Does adding azithromycin to standard therapy in patients with persistent uncontrolled asthma induce remission compared with placebo?

Study Design And Methods: This secondary analysis used data from the Asthma and Macrolides: the Azithromycin Efficacy and Safety (AMAZES) clinical trial-a double-anonymized placebo-controlled trial that evaluated the safety and efficacy of azithromycin on asthma exacerbations. The primary remission definition (referred to as clinical remission) was zero exacerbations and zero oral corticosteroids during the previous 6 months evaluated at 12 months and a 5-item Asthma Control Questionnaire score ≤ 1 at 12 months.

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Obstructive sleep apnoea in obesity: A review.

Clin Obes

June 2024

CIRUS Centre for Sleep and Chronobiology, Woolcock Institute of Medical Research, Macquarie University, Sydney, New South Wales, Australia.

Obstructive sleep apnea is a common comorbidity that occurs in individuals with obesity. It classically manifests with excessive daytime sleepiness, resulting in reduced quality of life, workplace productivity, and an increased risk of motor vehicle accidents. Weight gain plays an important role in its pathogenesis through worsening upper airway collapsibility, and current treatment options are targeted towards mechanically overcoming upper airway obstruction and weight loss.

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Point-of-collection testing (POCT) devices are widely used in roadside and workplace drug testing to identify recent cannabis use by measuring the presence of Δ-tetrahydrocannabinol (THC) in oral fluid (OF). However, the performance of POCT devices with oral medicinal cannabis products remains poorly described. In a randomised, double-blinded, crossover trial, adults with insomnia disorder (n = 20) received a single (2 mL) oral dose of oil containing 10 mg THC + 200 mg cannabidiol, or placebo, prior to sleep.

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Article Synopsis
  • The study aims to establish accurate age-related penetrance figures for various cancer types linked to pathogenic germline variants, which is essential for effective clinical management and variant classification.
  • Researchers used full pedigree data from 146 families across Australia, Spain, and the U.S. to estimate cancer penetrance, adjusting for biases and background cancer risks.
  • The findings reveal high cumulative risks for core cancers associated with Li-Fraumeni syndrome and identify significant lifetime risks for additional cancers, helping refine clinical recommendations for individuals with these pathogenic variants.
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A comparison of marker gene selection methods for single-cell RNA sequencing data.

Genome Biol

February 2024

Bioinformatics and Cellular Genomics, St Vincent's Institute of Medical Research, 9 Princes St, Fitzroy, 3065, VIC, Australia.

Background: The development of single-cell RNA sequencing (scRNA-seq) has enabled scientists to catalog and probe the transcriptional heterogeneity of individual cells in unprecedented detail. A common step in the analysis of scRNA-seq data is the selection of so-called marker genes, most commonly to enable annotation of the biological cell types present in the sample. In this paper, we benchmark 59 computational methods for selecting marker genes in scRNA-seq data.

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  • The study investigates the relationship between electroencephalographic (EEG) activity during REM sleep and cognitive impairment in older adults, particularly focusing on those with mild cognitive impairment (MCI).
  • Researchers assessed 210 older adults, classifying them into groups based on their cognitive status and measuring EEG slowing during REM sleep across different brain regions.
  • Findings indicate that the group with amnestic MCI showed greater REM EEG slowing, which correlated with poorer visuospatial abilities, suggesting that REM EEG slowing could help distinguish between varying levels of cognitive impairment in older adults.
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In the enduring challenge against disease, advancements in medical technology have empowered clinicians with novel diagnostic platforms. Whilst in some cases, a single test may provide a confident diagnosis, often additional tests are required. However, to strike a balance between diagnostic accuracy and cost-effectiveness, one must rigorously construct the clinical pathways.

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In situ single-cell profiling sheds light on IFI27 localisation during SARS-CoV-2 infection.

EBioMedicine

March 2024

Division of Bioinformatics, Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, 3052, Australia; Department of Medical Biology, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, 3010, Australia; Frazer Institute, Faculty of Medicine, The University of Queensland, Brisbane, QLD, Australia; South Australian ImmunoGENomics Cancer Institute, The University of Adelaide, SA, Australia; Department of Clinical Pathology, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, 3010, Australia.

The utilization of single-cell resolved spatial transcriptomics to delineate immune responses during SARS-CoV-2 infection was able to identify M1 macrophages to have elevated expression of IFI27 in areas of infection.

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Article Synopsis
  • Autoantibodies to erythropoietin receptor (anti-EPOR antibodies) have been found in some patients with kidney diseases, but their impact on those with type 2 diabetes (T2D) and chronic kidney disease (CKD) is not well understood.
  • In a study of 2,600 T2D and CKD patients, about 7.3% tested positive for these antibodies, which were linked to higher risks of serious kidney issues and cardiovascular deaths.
  • The diabetes medication canagliflozin was shown to effectively increase hemoglobin and hematocrit levels in all patients, regardless of their anti-EPOR antibody status.
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Objective: Chronic obstructive pulmonary disease (COPD) is a major cause of global illness and death, most commonly caused by cigarette smoke. The mechanisms of pathogenesis remain poorly understood, limiting the development of effective therapies. The gastrointestinal microbiome has been implicated in chronic lung diseases via the gut-lung axis, but its role is unclear.

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