114 results match your criteria: "and Fiona Stanley Hospital[Affiliation]"

Article Synopsis
  • Adrenal vein sampling (AVS) is the preferred method for identifying unilateral subtypes of primary aldosteronism (PA), which can be treated with surgery for a potential cure.
  • The procedure is technically demanding and often performed by specialized interventional radiologists, but variations in protocols can affect its success and patient care.
  • To standardize AVS practices and improve outcomes, an Australian and New Zealand AVS Working Group was formed to create expert consensus recommendations that can be utilized by all healthcare professionals involved in PA management.
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Background: Homozygous phytosterolaemia, is a rare autosomal recessive disorder which lead to severely elevated plasma levels of plant phytosterols causing an increased risk of coronary artery disease (CAD) and mimics the clinical presentation of familial hypercholesterolaemia(FH). Integration of the genetic variants for homozygous phytosterolaemia into the genetic panel for FH in clinical practice likely increases the detection of milder genetic forms of phytosterolaemia, of which the implications to clinical practice including cascade testing remain unclear.

Results: We report three families with pathogenic loss-of-function variants in ABCG5 and/or ABCG8, in which probands were identified incidentally when genetically testing them for FH.

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After burn injury there is considerable variation in scar outcome, partially due to genetic factors. Scar vascularity is one characteristic that varies between individuals, and this study aimed to identify genetic variants contributing to different scar vascularity outcomes. An exome-wide array association study and gene pathway analysis was performed on a prospective cohort of 665 patients of European ancestry treated for burn injury, using their scar vascularity (SV) sub-score, part of the modified Vancouver Scar Scale (mVSS), as an outcome measure.

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Inflammatory proteins and neutrophil extracellular traps increase in burn blister fluid 24h after burn.

Burns

June 2024

Queensland University of Technology (QUT), Faculty of Health, School of Biomedical Sciences, Centre for Children's Health Research, South Brisbane, Queensland, Australia. Electronic address:

Burn wound blister fluid is a valuable matrix for understanding the biological pathways associated with burn injury. In this study, 152 blister fluid samples collected from paediatric burn wounds at three different hospitals were analysed using mass spectrometry proteomic techniques. The protein abundance profile at different days after burn indicated more proteins were associated with cellular damage/repair in the first 24 h, whereas after this point more proteins were associated with antimicrobial defence.

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Objectives: The aim of this study was to characterise the dynamic immune profile of paediatric burn patients for up to 18 months post-burn.

Methods: Flow cytometry was used to measure 25 cell markers, chemokines and cytokines which reflected both pro-inflammatory and anti-inflammatory immune profiles. Peripheral blood mononuclear cells from 6 paediatric burn patients who had returned for repeated burn and scar treatments for > 4 timepoints within 12 months post-burn were compared to four age-matched healthy controls.

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Pathology: evolution not revolution.

Pathology

April 2024

Editor-in-Chief, Pathology, Royal College of Pathologists of Australasia, Sydney, NSW, Australia; Department of Clinical Biochemistry, Royal Perth Hospital and Fiona Stanley Hospital Network, PathWest Laboratory Medicine WA, Perth, WA, Australia; School of Medicine, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia. Electronic address:

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Article Synopsis
  • Familial partial lipodystrophy (FPLD) is a genetic disorder that affects fat tissue and leads to early cardiometabolic issues, making diagnosis challenging due to a lack of clear criteria.
  • A pilot study involving 8 women with FPLD and 4 control participants aimed to identify clinical features and assess adipose tissue measurements for diagnostic purposes.
  • The results showed that women with FPLD had early diabetes onset, distinct adipose tissue characteristics like reduced thigh fat, and higher trunk-to-leg fat ratio, suggesting these measurements could help in identifying FPLD1 patients.
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Cascade testing of children and adolescents for elevated Lp(a) in pedigrees with familial hypercholesterolaemia.

J Clin Lipidol

March 2024

School of Medicine, University of Western Australia, Perth, Australia (Drs Loh, Pang, Chakraborty, Chan, Hooper, Bell, Burnett, Watts); Department of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, Australia (Drs Bell, Burnett, Watts).

Elevated plasma lipoprotein(a) [Lp(a)] is a common, inherited condition independently causing cardiovascular disease. Recent expert recommendations suggest opportunistically testing for elevated Lp(a) during cascade testing for familial hypercholesterolaemia (FH). We investigated the effectiveness of detecting elevated Lp(a) in 103 children and adolescents who were first-degree relatives of 66 adult index FH cases as part of an established FH cascade screening program.

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Speaking of sepsis: semantics, syntax, and slang.

Front Med (Lausanne)

October 2023

Western Australian Country Health Service, Perth, WA, Australia.

Medical language is in a constant state of evolution. Its grammar and vocabulary are not fixed by rigid rules. The interdisciplinary field of sepsis has become a meeting point for new insights arising from advances in systems biology, epidemiology, mechanistic understandings of disease process and antimicrobial interventions.

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Antimicrobial resistance (AMR) is a major global public health threat, particularly affecting patients in resource-poor settings. Comprehensive surveillance programmes are essential to reducing the high mortality and morbidity associated with AMR and are integral to informing treatment decisions and guidelines, appraising the effectiveness of intervention strategies, and directing development of new antibacterial agents. Various surveillance programmes exist worldwide, including those administered by government bodies or funded by the pharmaceutical industry.

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Background: The Combination Antibiotic Therapy for Methicillin-Resistant (CAMERA2) trial ceased recruitment in July 2018, noting that a higher proportion of patients in the intervention arm (combination therapy) developed acute kidney injury (AKI) compared to the standard therapy (monotherapy) arm. We analyzed the long-term outcomes of participants in CAMERA2 to understand the impact of combination antibiotic therapy and AKI.

Methods: Trial sites obtained additional follow-up data.

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Background: Cardiovascular disease is the most common cause of death in people with gout. Acute inflammation, which is a characteristic of gout, may have a mechanistic role in major adverse cardiovascular events (MACEs). We aimed to examine the relationship between admissions to a hospital with acute gout and MACEs in a large population-based data set.

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Valosin-containing protein (VCP)-associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety percent of patients with VCP-associated MSP have myopathy, but there is no consensus-based guideline. The goal of this working group was to develop a best practice set of provisional recommendations for VCP myopathy which can be easily implemented across the globe.

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Local burn wound environment versus systemic response: Comparison of proteins and metabolites.

Wound Repair Regen

September 2022

Queensland University of Technology (QUT), School of Biomedical Sciences, Faculty of Health, Centre for Children's Health Research, South Brisbane, Queensland, Australia.

In this study, paired blood plasma (BP) and blister fluid (BF) samples from five paediatric burn patients were analysed using mass spectrometry to compare their protein and metabolite composition. The relative quantification of proteins was achieved through a label-free data independent acquisition mode. The relative quantification of metabolites was achieved using a Shimadzu Smart Metabolite Database gas chromatography mass spectrometry (GCMS) targeted assay.

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Guidance for the diagnosis and treatment of hypolipidemia disorders.

J Clin Lipidol

December 2022

CarMeN Laboratory, UMR INSERM U1060/INRAE U1397, Claude Bernard Lyon1 University, F-69310 Pierre-Bénite; F-69500 Bron, France (Drs Charrière, Cuerq, Moulin, and Peretti); Department of Pediatric Gastroenterology-Hepatology and Nutrition, Hospices Civil de Lyon, Hôpital Femme Mere Enfant, F-69500 Bron, France (Drs Poinsot and Peretti).

The Abetalipoproteinemia and Related Disorders Foundation was established in 2019 to provide guidance and support for the life-long management of inherited hypocholesterolemia disorders. Our mission is "to improve the lives of individuals and families affected by abetalipoproteinemia and related disorders". This review explains the molecular mechanisms behind the monogenic hypobetalipoproteinemia disorders and details their specific pathophysiology, clinical presentation and management throughout the lifespan.

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Liver Transplant for Adult Recurrent Hepatic Mesenchymal Hamartoma and a Feasible Treatment Modality: A Case Report and Literature Review.

Transplant Proc

October 2022

WA Liver and Kidney Transplant Department, Sir Charles Gairdner Hospital, Western Australia, Australia; Discipline of Surgery, Medical School, The University of Western Australia, Western Australia, Australia.

Background: Adult hepatic mesenchymal hamartoma (HMH) is an extremely rare hepatic tumor. Recurrence following complete resection is uncommon. Liver transplantation (LT) is described as a possible treatment option in nonresectable HMH.

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Article Synopsis
  • Residual inflammation in heart and blood vessels is linked to a higher risk of heart problems after pneumonia, prompting a study on how pneumonia affects plaque in mice.
  • Male ApoE-/- mice were infected with Streptococcus pneumoniae after being on a high-fat diet, and changes in their aorta and heart were monitored over time.
  • Results showed that infected mice had more plaque and unstable plaque characteristics, suggesting that pneumonia can negatively impact heart health and contribute to cardiovascular issues in survivors.
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A variant in the fibronectin (FN1) gene, rs1250229-T, is associated with decreased risk of coronary artery disease in familial hypercholesterolaemia.

J Clin Lipidol

August 2022

School of Medicine, Faculty of Medicine and Health Sciences, The University of Western Australia, Perth, Australia (Drs Page, Ellis, Chan, Pang, Hooper, Bell, Burnett, and Watts); Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, Perth, Australia (Drs Bell, Burnett, and Watts). Electronic address:

Background: Increased risk of coronary artery disease (CAD) in familial hypercholesterolaemia (FH) is modified by factors beyond defects in the low-density lipoprotein receptor pathway. The rs1250229-T single nucleotide polymorphism (SNP) in the FN1 gene is associated with CAD in genome-wide association studies and is in linkage disequilibrium with another SNP (rs1250259-T) in FN1 that is associated with decrease fibronectin secretion.

Objective: We investigated whether rs1250229-T was also associated with prevalent CAD in patients with genetically confirmed FH.

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Article Synopsis
  • The text mentions a correction to a previously published article with the DOI: 10.1016/j.ajpc.2021.100151.
  • This correction suggests that there were errors or inaccuracies in the original article that needed to be addressed.
  • The updated information is important for researchers and readers who rely on the findings of that specific study.
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Incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory infection.

Clin Chim Acta

April 2022

Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, Australia; School of Medicine, University of Western Australia, Australia.

Lipoprotein lipase (LPL) deficiency is an extremely rare disorder of lipid metabolism known to cause hypertriglyceridaemia in childhood. We report the incidental diagnosis of LPL deficiency in an infant presenting with an acute respiratory tract infection. The patient was initially treated for a lower respiratory tract infection, but was subsequently found to have milky appearance of the serum, with a triglyceride concentration greater than 1000 mg/dL.

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Management of non-severe burn wounds in children and adolescents: optimising outcomes through all stages of the patient journey.

Lancet Child Adolesc Health

April 2022

The Children's Hospital Burns Research Institute, The Children's Hospital at Westmead, The University of Sydney, NSW, Westmead, Australia.

Paediatric burn injuries are common, especially in children younger than 5 years, and can lead to poor physical and psychosocial outcomes in the long term. In this Review, we aim to summarise the key factors and interventions before hospital admission and following discharge that can improve the long-term outcomes of paediatric burns. Care can be optimised through first aid treatment, correct initial assessment of burn severity, and appropriate patient referral to a burns centre.

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Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance.

Endocrinol Diabetes Metab Case Rep

January 2022

Department of Endocrinology and Diabetes, Perth Children's Hospital, Perth, Western Australia, Australia.

Summary: We report a case of an 11-year-old girl presenting with a new diagnosis of diabetes associated with a heterozygous missense mutation in the insulin receptor (INSR) gene. This case highlights that INSR gene variants can be a cause for monogenic diabetes in children and adolescents and the need for genetic evaluation in atypical presentations of diabetes. We also describe the possible role of metformin in treating individuals with type A insulin resistance syndrome due to INSR gene variants.

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Background: Rubidium-82 positron emission tomography (Rb PET) MPI is considered a noninvasive reference standard for the assessment of myocardial perfusion in coronary artery disease (CAD) patients. Our main goal was to compare the diagnostic performance of static rest/ vasodilator stress CT myocardial perfusion imaging (CT-MPI) to stress/ rest Rb PET-MPI for the identification of myocardial ischemia.

Methods: Forty-four patients with suspected or diagnosed CAD underwent both static CT-MPI and Rb PET-MPI at rest and during pharmacological stress.

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