514 results match your criteria: "and Murdoch Childrens Research Institute[Affiliation]"

Objectives: To present recommendations and consensus statements with supporting literature for the clinical management of neonates and children supported with extracorporeal membrane oxygenation (ECMO) from the Pediatric ECMO Anticoagulation CollaborativE (PEACE) consensus conference.

Data Sources: Systematic review was performed using PubMed, Embase, and Cochrane Library (CENTRAL) databases from January 1988 to May 2021, followed by serial meetings of international, interprofessional experts in the management ECMO for critically ill children.

Study Selection: The management of ECMO anticoagulation for critically ill children.

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A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.

Nat Genet

July 2024

Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.

Article Synopsis
  • The study investigates the factors affecting the expansion of tandem repeats, focusing on the FGF14 (GAA)·(TTC) repeat locus in a large sample of 2,530 individuals through advanced sequencing techniques.
  • Researchers discovered a prevalent 5'-flanking variant present in over 70% of alleles, which is linked to nonpathogenic alleles and the ancestral lineage of this genetic marker.
  • This common variant is associated with greater stability of the tandem repeat during inheritance and improved accessibility of chromatin, suggesting a role in preventing pathological expansion.
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Changes in the Term Neonatal Electroencephalogram with General Anesthesia: A Systematic Review with Narrative Synthesis.

Anesthesiology

October 2024

Department of Anaesthesia and Pain Management, Royal Children's Hospital, Melbourne, Victoria, Australia; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria, Australia; and Melbourne Children's Trial Centre, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

Background: Although effects of general anesthesia on neuronal activity in the human neonatal brain are incompletely understood, electroencephalography provides some insight and may identify age-dependent differences.

Methods: A systematic search (MEDLINE, Embase, PubMed, and Cochrane Library to November 2023) retrieved English language publications reporting electroencephalography during general anesthesia for cardiac or noncardiac surgery in term neonates (37 to 44 weeks postmenstrual age). Data were extracted, and risk of bias (ROBINS-I Cochrane tool) and quality of evidence (Grading of Recommendations Assessment, Development, and Evaluation [GRADE] checklist) were assessed.

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In silico simulation of high-throughput sequencing data is a technique used widely in the genomics field. However, there is currently a lack of effective tools for creating simulated data from nanopore sequencing devices, which measure DNA or RNA molecules in the form of time-series current signal data. Here, we introduce Squigulator, a fast and simple tool for simulation of realistic nanopore signal data.

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Background: As adoption of nanopore sequencing technology continues to advance, the need to maintain large volumes of raw current signal data for reanalysis with updated algorithms is a growing challenge. Here we introduce slow5curl, a software package designed to streamline nanopore data sharing, accessibility, and reanalysis.

Results: Slow5curl allows a user to fetch a specified read or group of reads from a raw nanopore dataset stored on a remote server, such as a public data repository, without downloading the entire file.

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Perceived Workplace Discrimination on the Basis of Parent Status in Australia: Who Is Vulnerable and How Does It Link to Mothers' and Fathers' Mental Health?

J Occup Environ Med

July 2024

From the La Trobe University, Melbourne, Australia (A.C., S.M., S.H., S.K.B., M.A.-L., J.O.); Maurer School of Law, Bloomington, Indiana (D.W.); The Australian National University, Canberra, Australia (L.L.); and Murdoch Childrens Research Institute, Melbourne, Australia (S.K.B.).

This study focused on employees' perceived discrimination due to parenthood; and mental health, occupational stress and turnover intention. Methods: Survey (2016) of an Australian convenience sample of employed parents: women ( n = 2950) and men ( n = 1318). Results: Forty-two percent of all mothers reported missing out on promotion ( n = 1234/2950); one-third reported negative comments from managers ( n = 805/2950, 27%) or colleagues ( n = 832/2950, 28%).

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Adapting to the local needs of Australian educators - a critical step for successful implementation.

Brain Impair

March 2024

Melbourne School of Psychological Sciences, The University of Melbourne, Vic., Australia; and Murdoch Children's Research Institute, Melbourne, Vic., Australia; and Department of Paediatrics, The University of Melbourne, Vic., Australia; and Victorian Paediatric Rehabilitation Service, The Royal Children's Hospital, Melbourne, Vic., Australia.

Background The present study is the foundational project of TeachABI-Australia , which aims to develop and implement an accessible, nation-wide digital resource for educators to address their unmet acquired brain injury (ABI)-related professional learning needs. The aim of the present study was to identify the adaptations required to improve the suitability and acceptability of the TeachABI professional development module within the Australian education system from the perspectives of Australian educators. Methods The research design employed an integrated knowledge translation approach and followed the ADAPT Guidance for undertaking adaptability research.

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Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.

Mol Cell Endocrinol

June 2024

Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address:

Research Question: Premature ovarian insufficiency (POI) is characterised by amenorrhea associated with elevated follicle stimulating hormone (FSH) under the age of 40 years and affects 1-3.7% women. Genetic factors explain 20-30% of POI cases, but most causes remain unknown despite genomic advancements.

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A universal molecular control for DNA, mRNA and protein expression.

Nat Commun

March 2024

Australian Institute of Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Queensland, Australia.

The expression of genes encompasses their transcription into mRNA followed by translation into protein. In recent years, next-generation sequencing and mass spectrometry methods have profiled DNA, RNA and protein abundance in cells. However, there are currently no reference standards that are compatible across these genomic, transcriptomic and proteomic methods, and provide an integrated measure of gene expression.

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Introduction: Avoidant/restrictive food intake disorder (ARFID) is an eating disorder characterised by a pattern of eating that leads to failure to meet appropriate nutritional and/or energy needs.

Method: In the absence of evidence-based inpatient guidelines for adolescents with ARFID, we set out to develop and pilot an inpatient protocol for adolescents with ARFID. Identification of the key differences between managing inpatients with ARFID and anorexia nervosa (AN) led to modification of an existing AN protocol with the goals of better meeting patient needs, enhancing alignment with outpatient care, and improving outcomes.

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DNA methylation (5mC) is a repressive gene regulatory mark widespread in vertebrate genomes, yet the developmental dynamics in which 5mC patterns are established vary across species. While mammals undergo two rounds of global 5mC erasure, teleosts, for example, exhibit localized maternal-to-paternal 5mC remodeling. Here, we studied 5mC dynamics during the embryonic development of sea lamprey, a jawless vertebrate which occupies a critical phylogenetic position as the sister group of the jawed vertebrates.

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Despite decades of clinical use and a large body of evidence, the WHO continues to exclude methylphenidate for attention-deficit/hyperactivity disorder (ADHD) from its EML. The exclusion of methylphenidate has dire implications for millions of individuals with ADHD worldwide, especially those living in low and low-middle income countries (LMIC), where governmental decisions to make medicines available are contingent on EML listing.

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Development and validation of the adolescent behavioural change Counselling Assessment Tool in Indonesia.

BMC Health Serv Res

February 2024

Centre for Adolescent Health, Royal Children's Hospital and Murdoch Children's Research Institute, Department of Paediatrics, The University of Melbourne, 50 Flemington Rd, 3052, Parkville, VIC, Australia.

Background: Primary care provides an important context to engage adolescents and their families in healthy lifestyles with the goal of reducing future behaviour-related health problems. Developing a valid tool to assess health professionals' skills in behavioural change counselling is integral to improving the quality of clinical care provided to adolescents in Indonesia.

Methods: This work was nested within a project to develop a training program to enhance the behaviour-change counselling of adolescents and their parents by Indonesian primary care professionals.

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Longitudinal associations between adult-supervised drinking during adolescence and alcohol misuse from ages 25-31 years: A comparison of Australia and the United States.

Addict Behav

June 2024

Centre for Social and Early Emotional Development, School of Psychology, Deakin University, 221 Burwood Highway, Burwood, Victoria 3125, Australia. Electronic address:

Prior studies suggest that adult supervised drinking in adolescence predicts greater adolescent alcohol misuse. Long-term follow up data examining how adult supervised drinking during adolescence relates to alcohol misuse in adulthood are lacking. Longitudinal data from the International Youth Development Study tested associations between adult supervised drinking during adolescence (ages 13-16; 2002-2004) and adult alcohol misuse (ages 25-31; 2014, 2018, 2020).

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The lived experience of people affected by cancer: A global cross-sectional survey protocol.

PLoS One

February 2024

National Cancer Institute, Center for Cancer Research, National Institute of Health, Bethesda, Maryland, United States of America.

A diagnosis of cancer impacts the person's physical and mental health and the psychosocial and financial health of their caregivers. While data on the experience of living with cancer is available, there is a dearth of data from persons in low- and middle-income countries (LMICs). The perspectives of other impacted individuals also remain understudied (e.

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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.

Genet Med

May 2024

Neuroscience Research Australia, Sydney, NSW, Australia; Prince of Wales Clinical School, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia. Electronic address:

Purpose: Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively.

Methods: ES, GS, epigenetic signatures, and long-read sequencing diagnoses were assessed in 74 trios with at least moderate ID.

Results: The ES diagnostic yield was 42 of 74 (57%).

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Hepatic steatosis is the result of imbalanced nutrient delivery and metabolism in the liver and is the first hallmark of Metabolic dysfunction-associated steatotic liver disease (MASLD). MASLD is the most common chronic liver disease and involves the accumulation of excess lipids in hepatocytes, inflammation, and cancer. Mitochondria play central roles in liver metabolism yet the specific mitochondrial functions causally linked to MASLD remain unclear.

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Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine.

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Background: Sea snakes underwent a complete transition from land to sea within the last ~ 15 million years, yet they remain a conspicuous gap in molecular studies of marine adaptation in vertebrates.

Results: Here, we generate four new annotated sea snake genomes, three of these at chromosome-scale (Hydrophis major, H. ornatus and H.

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minimap2 is the gold-standard software for reference-based sequence mapping in third-generation long-read sequencing. While minimap2 is relatively fast, further speedup is desirable, especially when processing a multitude of large datasets. In this work, we present minimap2-fpga, a hardware-accelerated version of minimap2 that speeds up the mapping process by integrating an FPGA kernel optimised for chaining.

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Background: Globally, the uptake of tuberculosis-preventive treatment (TPT) among children with household tuberculosis contact remains low, partly due to the necessity of bringing children to health facilities for investigations. This study aimed to evaluate the effect on TPT initiation and completion of community-based approaches to tuberculosis contact investigations in Cameroon and Uganda.

Methods: We did a parallel, cluster-randomised, controlled trial across 20 clusters (consisting of 25 district hospitals and primary health centres) in Cameroon and Uganda, which were randomised (1:1) to receive a community-based approach (intervention group) or standard-of-care facility-based approach to contact screening and management (control group).

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Diagnostic accuracy of a three-gene Mycobacterium tuberculosis host response cartridge using fingerstick blood for childhood tuberculosis: a multicentre prospective study in low-income and middle-income countries.

Lancet Infect Dis

February 2024

Division of Infectious Diseases and Tropical Medicine, LMU University Hospital, LMU Munich, Munich, Germany; CIHLMU Center for International Health, LMU University Hospital, LMU Munich, Munich, Germany; German Centre for Infection Research (DZIF), Partner Site Munich, Munich, Germany; Fraunhofer Institute ITMP, Immunology, Infection and Pandemic Research, Munich, Germany. Electronic address:

Article Synopsis
  • Childhood tuberculosis is a significant health issue due to difficulties in diagnosing the disease, and there's a need for improved diagnostic tests using easily obtained samples.
  • The study evaluated the diagnostic accuracy of the Cepheid MTB-HR test in detecting tuberculosis in children under 15 years across multiple sites in Africa and India, analyzing results against established medical standards.
  • Although the MTB-HR test showed high specificity (90.3%), its sensitivity was modest, indicating limitations in identifying the disease, especially among children with HIV.
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in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.

Brain Commun

July 2023

Rare Genetic Diseases and Functional Genomics Group, Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.

Article Synopsis
  • Cerebellar ataxia, neuropathy and vestibular areflexia syndrome is a progressive neurological disorder linked to genetic mutations in a specific gene, which has shown significant variability in its genetic makeup.
  • A study screened 242 Australasian patients with neurological diseases to find correlations between these genetic expansions and the disorder, discovering known pathogenic expansions in 15.3% of the cases.
  • Additionally, researchers identified previously unknown genetic repeat motifs and suggested the use of enhanced sequencing techniques to better understand the complex patterns of these genetic expansions.
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Article Synopsis
  • - The study aimed to evaluate the effectiveness and safety of a clinical algorithm for managing antibiotic use in children under 5 with respiratory infections at a hospital in Vietnam.
  • - Before the intervention, 46.8% of children were prescribed antibiotics, which reduced to 35.5% after a training session for physicians on the new algorithm, particularly among those without fever or those with normal chest X-rays.
  • - Although antibiotic use decreased and no significant harm was observed, the study's findings were limited due to COVID-19 disruptions, necessitating further research for more reliable conclusions.
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