3,413 results match your criteria: "Sydney Children's Hospital.[Affiliation]"

Neurologic depression in term/near-term neonates (neonatal encephalopathy, NE) is uncommon with modern obstetric care. Asphyxial birth, with or without co-factors, accounts for a minority of NE, while maldevelopment (congenital malformations, growth aberrations, genetic, metabolic and placental abnormalities) plays an enlarging role in identifying etiologic subgroups of NE. The terms NE and hypoxic-ischemic encephalopathy (HIE) have not been employed uniformly, hampering research and clinical care.

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Enhancing nurse practitioner research through reflexivity.

J Am Assoc Nurse Pract

November 2024

Faculty of Science, Medicine, and Health-School for Nursing, University of Wollongong, Wollongong, Australia.

This article highlights the essential role of reflexivity in research, using a qualitative project involving interviews with nurse practitioners during the COVID-19 pandemic as an example. It discusses the potential biases inherent in research, particularly when the researcher's experiences closely align with those of the participants. Drawing on the perspective of a nurse practitioner engaged in both research and health care provision, this article explores the importance of reflexivity in addressing these biases.

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A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment.

Genet Med

January 2025

School of Clinical Medicine, University of New South Wales, Sydney, NSW, Australia; New South Wales Health, NSW, Australia; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia; NSW Health Pathology Randwick Genomics Laboratory, Sydney, NSW, Australia.

Purpose: Many copy-number variants (CNVs) are reported to cause a variety of neurodevelopmental disabilities including intellectual disability, developmental delay, autism, and other phenotypes with incomplete penetrance. Therefore, not all individuals with a pathogenic CNV are affected. Penetrance estimates vary between studies.

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Talking about dying when faced with end-of-life may be important for achieving optimal outcomes for young people and their families. Given the lack of research on young people's communication around end-of-life and death, this analogue study examined the role of attachment theory in conversations about dying. Experiment 1 assessed attachment security of 80 healthy young adults and randomised them to receive either an induction that raised awareness of one's attachment figures or a neutral induction, and then primed them with an imagined scenario where they were diagnosed with an incurable illness.

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Sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD) is a life-threatening complication which can develop after haemopoietic stem cell transplantation (HSCT) and some antibody-drug conjugates. Several SOS/VOD diagnostic and management guidelines exist, with the most recent and refined being the European Society for Blood and Marrow Transplantation adult and paediatric guidelines. Timely diagnosis and effective management (including the availability of therapeutic options) significantly contribute to improved patient outcomes.

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In their own words: advice from parents of children with cancer.

J Pediatr Psychol

September 2024

Brain Tumour Research Program, Telethon Kids Cancer Centre, Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.

Background: Approximately 770 children are diagnosed with cancer in Australia every year. Research has explored their experiences and developed recommendations for improving support provided to families. These have included the provision of psychology services, improved communication between healthcare professionals and parents, and increased information for families.

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Introduction: Monitoring healthcare quality is challenging in paediatric critical care due to measure variability, data collection burden, and uncertainty regarding consumer and clinician priorities.

Objective: We sought to establish a core quality measure set that (i) is meaningful to consumers and clinicians and (ii) promotes alignment of measure use and collection across paediatric critical care.

Design: We conducted a multi-stakeholder Delphi study with embedded consumer prioritisation survey.

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Down syndrome-associated leukaemias: current evidence and challenges.

Ther Adv Hematol

July 2024

Kids Cancer Centre, Sydney Children's Hospital, Level 1 South Wing, High Street, Randwick, NSW 2031, Australia.

Children with Down syndrome (DS) are at increased risk of developing haematological malignancies, in particular acute megakaryoblastic leukaemia and acute lymphoblastic leukaemia. The microenvironment established by abnormal haematopoiesis driven by trisomy 21 is compounded by additional genetic and epigenetic changes that can drive leukaemogenesis in patients with DS. GATA-binding protein 1 () somatic mutations are implicated in the development of transient abnormal myelopoiesis and the progression to myeloid leukaemia of DS (ML-DS) and provide a model of the multi-step process of leukaemogenesis in DS.

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Aim: To determine the frequency, type, clinical, and sociodemographic associations of unmet social needs in children with cerebral palsy (CP).

Method: We conducted a cross-sectional study of parents and carers of children with CP attending a specialist hospital clinic between July and September 2022. Unmet social needs were self-identified using a survey, guided by the WE CARE survey instrument and adapted to the local context.

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Importance: Children exposed to substance use during pregnancy have increased health needs but whether these are influenced by engagement in out-of-home care is uncertain.

Objective: To evaluate the association between substance use during pregnancy, out-of-home care and hospitalization utilization, and costs from birth up to age 20 years.

Design, Setting, And Participants: This was a retrospective cohort study using individual-linked population birth, hospital, and out-of-home care information of all liveborn infants from New South Wales, Australia, between 2001 and 2020 using longitudinal population-based linkage records from administrative databases.

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Characteristics of enteral and oral nutrition support among infants and young children in the pediatric intensive care unit: A descriptive cohort study.

JPEN J Parenter Enteral Nutr

October 2024

Australian and New Zealand Intensive Care Research Centre, School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia.

Background: Children who are critically ill are often reliant on enteral and oral nutrition support. However, there is limited evidence to guide "what" to prescribe, and current practice is unknown. The primary objective of this study was to describe enteral nutrition prescription in children ≤2 years of age in the pediatric intensive care unit (PICU).

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Cystic fibrosis transmembrane conductance regulator (CFTR) variants and CFTR function in patients with pancreatitis.

Pancreatology

September 2024

School of Clinical Medicine, UNSW Medicine and Health, University of New South Wales, Sydney, Australia; Department of Gastroenterology, Sydney Children's Hospital Randwick, NSW, Australia. Electronic address:

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Development of a new social prescribing intervention for families of children with cerebral palsy.

Dev Med Child Neurol

February 2025

Community Paediatrics Research Group, Central Clinical School, Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.

Aim: To co-design a social prescribing intervention (the EPIC-CP programme: Equitable Pathways and Integrated Care in Cerebral Palsy) with children with cerebral palsy (CP), their families, and clinicians to address unmet social needs.

Method: The study was conducted (August 2021 to March 2023) at the paediatric rehabilitation departments of the three tertiary paediatric hospitals in New South Wales, Australia. Eligible participants attended or worked at one of the departments, including children with CP, parents/caregivers, and clinicians.

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Introduction: Current literature lacks consensus on initial assessments and routine follow-up care of patients with alpha-mannosidosis (AM). A Delphi panel was conducted to generate and validate recommendations on best practices for initial assessment, routine follow-up care, and integrated care coordination of patients with AM.

Methods: A modified Delphi method involving 3 rounds of online surveys was used.

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ATAGI targeted review 2023: Vaccination for preventing influenza in Australia.

Commun Dis Intell (2018)

July 2024

Australian Technical Advisory Group on Immunisation, Department of Health and Aged Care, Australian Government, Canberra, Australian Capital Territory, Australia.

Article Synopsis
  • Annual influenza epidemics significantly impact global health and economy, but their activity dropped during the COVID-19 pandemic, only to resurge in Australia in early 2022, coinciding with the Omicron variant wave.
  • * The current influenza vaccination program in Australia recommends yearly vaccinations for all individuals aged 6 months and older, with free vaccines provided for at-risk groups, but overall coverage, particularly among younger populations, remains low.
  • * To improve vaccination rates, strategies such as better monitoring, culturally appropriate resources, and addressing specific population needs are essential for enhancing the overall effectiveness of the immunization program.
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Objective: Genetic and environmental factors influence pathogenesis and rising incidence of paediatric inflammatory bowel disease (PIBD). The aim was to meta-analyse evidence of diet and environmental factors in PIBD.

Methods: A systematic search was conducted to identify diet and environmental factors with comparable risk outcome measures and had been reported in two or more PIBD studies for inclusion in meta-analyses.

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Fetal alcohol spectrum disorder resources for health professionals: a scoping review.

BMJ Open

July 2024

Speciality of Child and Adolescent Health, University of Sydney, Faculty of Medicine and Health, Sydney, New South Wales, Australia

Objectives: This scoping review aimed to identify and critically appraise resources for health professionals to identify, diagnose, refer, and support individuals with fetal alcohol spectrum disorder (FASD)-including the extent to which the resources are appropriate for use in communities with First Nations Peoples.

Method: Seven peer-reviewed databases (April 2022) and 14 grey literature websites (August 2022) were searched. The reference lists of all sources that underwent full-text review were handsearched, and FASD experts were consulted for additional sources.

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Introduction: The social determinants of health contribute to poorer health outcomes for children with cerebral palsy (CP) and are barriers to families accessing health services. At an individual level, social determinants of health are experienced as unmet social needs, for example, unsafe housing conditions. There is emerging evidence that clinical pathways for the systematic identification and referral to services for unmet social needs can support families to address these needs.

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Article Synopsis
  • MYCN oncogene amplification is linked to aggressive childhood neuroblastoma, but a study found a germline mutation in Runx1t1 that can prevent tumor development associated with MYCN.
  • This mutation affects a conserved zinc finger domain and reduces the risk of neuroblastoma by inhibiting cell growth and reversing hyperplasia, which is a precursor to tumor formation.
  • RUNX1T1 is part of a transcriptional repression complex that impacts chromatin accessibility without directly regulating MYCN, and its silencing affects other cancers, indicating its broader significance in tumor biology.
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Article Synopsis
  • * A two-arm randomized controlled trial will be conducted across seven hospitals in Australia and New Zealand to compare the effectiveness of T-EDTA versus saline solutions in reducing CVAD-related adverse events, with a plan to recruit 720 participants.
  • * The study has received ethical approvals from relevant committees and will adopt a mixed-methods approach to understand the implementation experiences from the perspectives of both clinicians and healthcare purchasers.
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A 4-year-old boy with Nuclear factor-kappa B Essential Modulator deficiency syndrome presented with encephalopathy post haematopoietic stem cell transplantation. MRI demonstrated T2/FLAIR-hyperintensities in the posterior cerebral cortex concerning for posterior reversible encephalopathy syndrome. Clinical improvement was appreciated following withdrawal of the suspected offending pharmacological agent (Cyclosporine).

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Background: The BCR::ABL1 is a hallmark of chronic myeloid leukemia (CML) and is also found in acute lymphoblastic leukemia (ALL). Most genomic breaks on the BCR side occur in two regions - Major and minor - leading to p210 and p190 fusion proteins, respectively.

Methods: By multiplex long-distance PCR or next-generation sequencing technology we characterized the BCR::ABL1 genomic fusion in 971 patients (adults and children, with CML and ALL: pediatric ALL: n = 353; pediatric CML: n = 197; adult ALL: n = 166; adult CML: n = 255 patients) and designed "Break-App" web tool to allow visualization and various analyses of the breakpoints.

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Treatment of toxic shock in children.

Arch Dis Child Educ Pract Ed

July 2024

Department of Infectious Diseases, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia

Toxic shock syndrome (TSS) is a life-threatening complication of infection typically caused by one of two bacterial species: and The outcomes in children with TSS can be devastating. Careful consideration of TSS is required as a potential differential diagnosis of children presenting with sepsis or severe illness associated with fever and rash.

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