Publications by authors named "Lyle J Palmer"

Article Synopsis
  • * This study is the first large-scale analysis examining the relationship between EDS and genetic variations related to OSA severity, using data from over 11,500 samples across diverse populations.
  • * Researchers identified 16 genetic targets linked to EDS and OSA, with eight being new discoveries, and discussed potential therapeutic implications involving insulin resistance and nutritional factors for patients with OSA and EDS.
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Background: Accurate outcome predictions for patients who had ischaemic stroke with successful reperfusion after endovascular thrombectomy (EVT) may improve patient treatment and care. Our study developed prediction models for key clinical outcomes in patients with successful reperfusion following EVT in an Australian population.

Methods: The study included all patients who had ischaemic stroke with occlusion in the proximal anterior cerebral circulation and successful reperfusion post-EVT over a 7-year period.

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Purpose To investigate the issues of generalizability and replication of deep learning models by assessing performance of a screening mammography deep learning system developed at New York University (NYU) on a local Australian dataset. Materials and Methods In this retrospective study, all individuals with biopsy or surgical pathology-proven lesions and age-matched controls were identified from a South Australian public mammography screening program (January 2010 to December 2016). The primary outcome was deep learning system performance-measured with area under the receiver operating characteristic curve (AUC)-in classifying invasive breast cancer or ductal carcinoma in situ ( = 425) versus no malignancy ( = 490) or benign lesions ( = 44).

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Objective: In this prospective cohort study, we provide several prognostic models to predict functional status as measured by the modified Health Assessment Questionnaire (mHAQ). The early adoption of the treat-to-target strategy in this cohort offered a unique opportunity to identify predictive factors using longitudinal data across 20 years.

Methods: A cohort of 397 patients with early RA was used to develop statistical models to predict mHAQ score measured at baseline, 12 months, and 18 months post diagnosis, as well as serially measured mHAQ.

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Background: Machine learning and deep learning models have been increasingly used to predict long-term disease progression in patients with chronic obstructive pulmonary disease (COPD). We aimed to summarise the performance of such prognostic models for COPD, compare their relative performances, and identify key research gaps.

Methods: We conducted a systematic review and meta-analysis to compare the performance of machine learning and deep learning prognostic models and identify pathways for future research.

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Genetic association studies of many heritable traits resulting from physiological testing often have modest sample sizes due to the cost and burden of the required phenotyping. This reduces statistical power and limits discovery of multiple genetic associations. We present a strategy to leverage pleiotropy between traits to both discover new loci and to provide mechanistic hypotheses of the underlying pathophysiology.

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Rheumatoid arthritis is an autoimmune condition that predominantly affects the synovial joints, causing joint destruction, pain, and disability. Historically, the standard for measuring the long-term efficacy of disease-modifying antirheumatic drugs has been the assessment of plain radiographs with scoring techniques that quantify joint damage. However, with significant improvements in therapy, current radiographic scoring systems may no longer be fit for purpose for the milder spectrum of disease seen today.

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Introduction: Machine learning (ML) methods are being increasingly applied to prognostic prediction for stroke patients with large vessel occlusion (LVO) treated with endovascular thrombectomy. This systematic review aims to summarize ML-based pre-thrombectomy prognostic models for LVO stroke and identify key research gaps.

Methods: Literature searches were performed in Embase, PubMed, Web of Science, and Scopus.

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Obstructive sleep apnea (OSA) is a common disorder associated with increased risk for cardiovascular disease, diabetes, and premature mortality. There is strong clinical and epidemiologic evidence supporting the importance of genetic factors influencing OSA but limited data implicating specific genes. To search for rare variants contributing to OSA severity.

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Background: Previous studies in medical imaging have shown disparate abilities of artificial intelligence (AI) to detect a person's race, yet there is no known correlation for race on medical imaging that would be obvious to human experts when interpreting the images. We aimed to conduct a comprehensive evaluation of the ability of AI to recognise a patient's racial identity from medical images.

Methods: Using private (Emory CXR, Emory Chest CT, Emory Cervical Spine, and Emory Mammogram) and public (MIMIC-CXR, CheXpert, National Lung Cancer Screening Trial, RSNA Pulmonary Embolism CT, and Digital Hand Atlas) datasets, we evaluated, first, performance quantification of deep learning models in detecting race from medical images, including the ability of these models to generalise to external environments and across multiple imaging modalities.

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Background: Proximal femoral fractures are an important clinical and public health issue associated with substantial morbidity and early mortality. Artificial intelligence might offer improved diagnostic accuracy for these fractures, but typical approaches to testing of artificial intelligence models can underestimate the risks of artificial intelligence-based diagnostic systems.

Methods: We present a preclinical evaluation of a deep learning model intended to detect proximal femoral fractures in frontal x-ray films in emergency department patients, trained on films from the Royal Adelaide Hospital (Adelaide, SA, Australia).

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Introduction: We aimed to analyze long-term trends in characteristics of patients undergoing diagnostic polysomnography (PSG) and subsequently diagnosed with obstructive sleep apnea (OSA) to inform delivery of sleep services.

Material And Methods: We studied 24,510 consecutive patients undergoing PSG at a tertiary-care sleep service between 1989 and 2013. OSA was defined by an apnea hypopnea index (AHI)≥ 5 events/hour.

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Objective: To assess longitudinal, population-based data on the prevalence and impact of chronic pancreatitis in children.

Study Design: Administrative data linkage was used to ascertain an index cohort consisting of all individuals who had an initial diagnosis of chronic pancreatitis before age 19 years in the South Australian public hospital system between June 2000 and June 2019. Age- and sex-matched controls were drawn from the general population of South Australia, children with type 1 diabetes, and children with type 2 diabetes.

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Background: Sleep-disordered breathing is a common disorder associated with significant morbidity. The genetic architecture of sleep-disordered breathing remains poorly understood. Through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, we performed the first whole-genome sequence analysis of sleep-disordered breathing.

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Background: This study aimed to describe the clinical outcomes of total pancreatectomy with islet autotransplantation (TP-IAT) in Australia.

Methods: Individuals selected for TP-IAT surgery according to the Minnesota Criteria (Appendix) without evidence of diabetes were evaluated including time to transplantation from pancreatectomy, islet numbers infused and post-transplantation HbA1c, C-peptide, total daily insulin and analgesic requirement.

Results: Sixteen individuals underwent TP-IAT from Australia and New Zealand between 2010 and 2020.

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Long and short sleep duration are associated with elevated blood pressure (BP), possibly through effects on molecular pathways that influence neuroendocrine and vascular systems. To gain new insights into the genetic basis of sleep-related BP variation, we performed genome-wide gene by short or long sleep duration interaction analyses on four BP traits (systolic BP, diastolic BP, mean arterial pressure, and pulse pressure) across five ancestry groups in two stages using 2 degree of freedom (df) joint test followed by 1df test of interaction effects. Primary multi-ancestry analysis in 62,969 individuals in stage 1 identified three novel gene by sleep interactions that were replicated in an additional 59,296 individuals in stage 2 (stage 1 + 2 P < 5 × 10), including rs7955964 (FIGNL2/ANKRD33) that increases BP among long sleepers, and rs73493041 (SNORA26/C9orf170) and rs10406644 (KCTD15/LSM14A) that increase BP among short sleepers (P < 5 × 10).

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Artificial intelligence technology has advanced rapidly in recent years and has the potential to improve healthcare outcomes. However, technology uptake will be largely driven by clinicians, and there is a paucity of data regarding the attitude that clinicians have to this new technology. In June-August 2019 we conducted an online survey of fellows and trainees of three specialty colleges (ophthalmology, radiology/radiation oncology, dermatology) in Australia and New Zealand on artificial intelligence.

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Article Synopsis
  • * A large study involving over 150,000 individuals found that genetic effects on fasting insulin vary by sex, specifically at the IRS1 and ZNF12 gene locations, with women showing higher RNA expression levels for ZNF12.
  • * The findings highlight that fasting insulin in women correlates more strongly with certain conditions like waist-to-hip ratio and anorexia nervosa, indicating that metabolic health differences between sexes may provide insight into their respective genetic influences.
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Aim: To conduct a systematic review of phenotypic definition and case ascertainment in published genetic studies of cerebral palsy (CP) to inform guidelines for the reporting of such studies.

Method: Inclusion criteria comprised genetic studies of candidate genes, with CP as the outcome, published between 1990 and 2019 in the PubMed, Embase, and BIOSIS Citation Index databases.

Results: Fifty-seven studies met the inclusion criteria.

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Study Objectives: Sleep duration is an important marker of sleep quality and overall sleep health. Both too little and too much sleep are associated with poorer health outcomes. We hypothesized that ethnicity-specific differences in sleep duration exist.

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Objective: Despite evidence of a relationship among obstructive sleep apnea (OSA), metabolic dysregulation, and diabetes, it is uncertain whether OSA treatment can improve metabolic parameters. We sought to determine effects of long-term continuous positive airway pressure (CPAP) treatment on glycemic control and diabetes risk in patients with cardiovascular disease (CVD) and OSA.

Research Design And Methods: Blood, medical history, and personal data were collected in a substudy of 888 participants in the Sleep Apnea cardioVascular Endpoints (SAVE) trial in which patients with OSA and stable CVD were randomized to receive CPAP plus usual care, or usual care alone.

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Study Objectives: Obstructive sleep apnea (OSA) is a common condition with significant symptoms and long-term adverse cognitive, mental health, vascular, and respiratory sequelae. Physical activity has been recognized as a key determinant for good health and has been associated with lower risk of these sequelae. We hypothesized that increased physical activity may be associated with a decreased prevalence of OSA.

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Article Synopsis
  • Early childhood growth patterns are linked to health in adulthood, but the genetic influences and developmental stages remain unclear.
  • This study uses genome-wide association studies and various analyses to explore how genetics of early growth relate to adult health, finding significant connections between child and adult body mass index (BMI).
  • The research also reveals distinct genetic factors influencing peak BMI during infancy, implying different strategies may be needed for addressing childhood obesity in prevention efforts.
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