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

Fully realising the potential of children and adolescents will require an ecological life course approach, together with multisectoral, coordinated, integrated action for the provision of care and services for children and adolescents, argue

View Article and Find Full Text PDF

Vitamin B-dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal-5'-phosphate (PLP). While pathogenic variants in or genes account for most cases of these disorders, biallelic pathogenic variants in have been shown to cause a form of early onset vitamin B-dependent epilepsy (EPVB6D). PLPBP is thought to play a role in the homeostatic regulation of vitamin B, by supplying PLP to apoenzymes while limiting side-reaction toxicity related to excess unbound PLP.

View Article and Find Full Text PDF

Prophylactic HPV vaccination has been a great public health success. For >20 years, clinical trials were conducted with the 2-, 4-, and/or 9-valent vaccines in young-adult females, mid-adult women, males, and adolescents. In all studies, the vaccines were highly efficacious, immunogenic, and well tolerated.

View Article and Find Full Text PDF

Active case-finding in contacts of people with TB.

Int J Tuberc Lung Dis

February 2021

Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney, NSW, Woolcock Institute of Medical Research, Glebe, NSW, Australia.

Exposure to people with TB substantially elevates a person's risk of tuberculous infection and TB disease. Systematic screening of TB contacts enables the early detection and treatment of co-prevalent disease, and the opportunity to prevent future TB disease. However, scale-up of contact investigation in high TB transmission settings remains limited.

View Article and Find Full Text PDF

Background: There are major gaps in the management of pediatric tuberculosis (TB) contact investigation for rapid identification of active tuberculosis and initiation of preventive therapy. This study aims to evaluate the impact of a community-based intervention as compared to facility-based model for the management of children in contact with bacteriologically confirmed pulmonary TB adults in low-resource high-burden settings.

Methods/design: This multicenter parallel open-label cluster randomized controlled trial is composed of three phases: I, baseline phase in which retrospective data are collected, quality of data recording in facility registers is checked, and expected acceptability and feasibility of the intervention is assessed; II, intervention phase with enrolment of index cases and contact cases in either facility- or community-based models; and III, explanatory phase including endpoint data analysis, cost-effectiveness analysis, and post-intervention acceptability assessment by healthcare providers and beneficiaries.

View Article and Find Full Text PDF

Climate change and epilepsy: Insights from clinical and basic science studies.

Epilepsy Behav

March 2021

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK and Chalfont Centre for Epilepsy, Bucks, UK. Electronic address:

Climate change is with us. As professionals who place value on evidence-based practice, climate change is something we cannot ignore. The current pandemic of the novel coronavirus, SARS-CoV-2, has demonstrated how global crises can arise suddenly and have a significant impact on public health.

View Article and Find Full Text PDF

Global Ethical Considerations Regarding Mandatory Vaccination in Children.

J Pediatr

April 2021

Department of General Medicine, The Royal Children's Hospital and Vaccine Uptake Group, Murdoch Children's Research Institute and Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia.

Whether children should be vaccinated against coronavirus disease-2019 (COVID-19) (or other infectious diseases such as influenza) and whether some degree of coercion should be exercised by the state to ensure high uptake depends, among other things, on the safety and efficacy of the vaccine. For COVID-19, these factors are currently unknown for children, with unanswered questions also on children's role in the transmission of the virus, the extent to which the vaccine will decrease transmission, and the expected benefit (if any) to the child. Ultimately, deciding whether to recommend that children receive a novel vaccine for a disease that is not a major threat to them, or to mandate the vaccine, requires precise information on the risks, including disease severity and vaccine safety and effectiveness, a comparative evaluation of the alternatives, and the levels of coercion associated with each.

View Article and Find Full Text PDF

Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.

Eur J Paediatr Neurol

January 2021

Division of Child Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada; Department of Neurology & Neurosurgery, Montreal Children's Hospital, McGill University, Montreal, Quebec, Canada; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:

Heterozygous pathogenic WAC variants cause Desanto-Shinawi syndrome; affected patients have dysmorphic features, developmental impairment and behavioral abnormalities. Seizures are reported in one quarter, including tonic-clonic, absence, and febrile seizures. This study aimed to better understand the phenotypic spectrum of epilepsy and development in Desanto-Shinawi syndrome.

View Article and Find Full Text PDF

Childhood Sjögren syndrome: features of an international cohort and application of the 2016 ACR/EULAR classification criteria.

Rheumatology (Oxford)

July 2021

Division of Rheumatology, Allergy, and Immunology, Stead Family Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

Objective: Sjögren syndrome in children is a poorly understood autoimmune disease. We aimed to describe the clinical and diagnostic features of children diagnosed with Sjögren syndrome and explore how the 2016 ACR/EULAR classification criteria apply to this population.

Methods: An international workgroup retrospectively collected cases of Sjögren syndrome diagnosed under 18 years of age from 23 centres across eight nations.

View Article and Find Full Text PDF

Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis.

Cell

December 2020

Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada; Division of Experimental Medicine, Department of Medicine, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, and The Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada. Electronic address:

Histone H3.3 glycine 34 to arginine/valine (G34R/V) mutations drive deadly gliomas and show exquisite regional and temporal specificity, suggesting a developmental context permissive to their effects. Here we show that 50% of G34R/V tumors (n = 95) bear activating PDGFRA mutations that display strong selection pressure at recurrence.

View Article and Find Full Text PDF

Applying lessons learnt from research of child pneumonia management in Vietnam.

Paediatr Respir Rev

September 2021

Discipline of Child and Adolescent Health, The Children's Hospital at Westmead, The University of Sydney, Australia.

Pneumonia is the leading cause of paediatric hospitalisation in Vietnam, placing a huge burden on the health care system. Pneumonia is also the main reason for antibiotic use in children. Unfortunately many hospital admissions for child pneumonia in Vietnam are unnecessary and inappropriate use of antibiotics is common, as in the rest of Asia, with little awareness of its adverse effects.

View Article and Find Full Text PDF

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders.

Transl Psychiatry

October 2020

Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

Chromosome 15 (C15) imprinting disorders including Prader-Willi (PWS), Angelman (AS) and chromosome 15 duplication (Dup15q) syndromes are severe neurodevelopmental disorders caused by abnormal expression of genes from the 15q11-q13 region, associated with abnormal DNA methylation and/or copy number changes. This study compared changes in mRNA levels of UBE3A and SNORD116 located within the 15q11-q13 region between these disorders and their subtypes and related these to the clinical phenotypes. The study cohort included 58 participants affected with a C15 imprinting disorder (PWS = 27, AS = 21, Dup15q = 10) and 20 typically developing controls.

View Article and Find Full Text PDF

The prevalence and determinants of vitamin D deficiency in Indonesian infants at birth and six months of age.

PLoS One

November 2020

Department of Paediatrics and Murdoch Childrens Research Institute, Royal Children's Hospital, University of Melbourne, Melbourne, Victoria, Australia.

Article Synopsis
  • A study conducted in Yogyakarta, Indonesia, aimed to assess the prevalence and risk factors of vitamin D deficiency in infants at birth and six months, revealing a high deficiency rate of 90% in cord blood samples and 13% at six months.
  • Protective factors against vitamin D deficiency at birth included spending more time outdoors and mothers taking vitamin D-rich multivitamins during pregnancy, while lower sun exposure and exclusive breastfeeding increased deficiency risks by six months.
  • The findings highlight the importance of safe sun exposure for infants and mothers in equatorial regions, particularly for populations with darker skin pigmentation, emphasizing the need for interventions to enhance vitamin D levels.
View Article and Find Full Text PDF

Objectives: To describe the epidemiology and outcomes of non-traumatic dyspnoea in patients aged 75 years or older presenting to emergency departments (EDs) in the Asia-Pacific region.

Methods: A substudy of a prospective interrupted time series cohort study conducted at three time points in EDs in Australia, New Zealand, Singapore, Hong Kong and Malaysia of patients presenting to the ED with dyspnoea as a main symptom. Data were collected over three 72-h periods and included demographics, co-morbidities, mode of arrival, usual medications, ED investigations and treatment, ED diagnosis and disposition, and outcome.

View Article and Find Full Text PDF
Article Synopsis
  • Vamorolone is a new investigational drug for treating Duchenne muscular dystrophy (DMD) that aims to reduce muscle weakness without some of the negative effects seen with long-term corticosteroid use.
  • In an 18-month study involving participants aged 4 to 7, vamorolone showed significant clinical improvements in motor functions compared to baseline measurements.
  • The study also compared outcomes from vamorolone-treated patients with those on no corticosteroids and those already receiving corticosteroid treatment, finding similar improvements in standing ability for vamorolone and corticosteroid-naïve participants.
View Article and Find Full Text PDF

Bacille Calmette-Guérin (BCG) induces long-term boosting of innate immunity, termed trained immunity, and decreases susceptibility to respiratory tract infections. BCG vaccination trials for reducing SARS-CoV-2 infection are underway, but concerns have been raised regarding the potential harm of strong innate immune responses. To investigate the safety of BCG vaccination, we retrospectively assessed coronavirus disease 2019 (COVID-19) and related symptoms in three cohorts of healthy volunteers who either received BCG in the last 5 years or did not.

View Article and Find Full Text PDF

Background: Focal cerebral arteriopathy (FCA), a major cause of childhood arterial ischemic stroke (AIS), can progress and lead to increased infarct size and/or recurrent stroke. Evaluating treatment options depends on the ability to quantify reliably the degree of stenosis in FCA.

Aims: We validated the recently introduced FCA severity score (FCASS) in an independent cohort from the Swiss Neuro-Paediatric Stroke Registry (SNPSR).

View Article and Find Full Text PDF

Risk of Leukemia in Children With Peripheral Facial Palsy.

Ann Emerg Med

February 2021

Paediatric Research in Emergency Departments International Collaborative (PREDICT), Melbourne, Australia; Emergency Department, Starship Children's Hospital, and the Departments of Surgery and Paediatrics, Child and Youth Health, University of Auckland, Auckland, New Zealand.

Most children with peripheral facial palsy will not have a cause identified. Although leukemia can cause facial nerve palsy, the magnitude of the risk is unknown and recommendations for investigations are variable. We are currently conducting a randomized, placebo-controlled trial of prednisolone for the treatment of Bell's palsy in children within the Paediatric Research in Emergency Departments International Collaborative emergency research network.

View Article and Find Full Text PDF

The Charlie Gard Case, and the Ethics of Obstructing International Transfer of Seriously Ill Children.

Pediatrics

August 2020

Faculty of Philosophy, Oxford Uehiro Centre for Practical Ethics, University of Oxford, Oxford, United Kingdom; John Radcliffe Hospital, Oxford, United Kingdom; and Murdoch Children's Research Institute, Melbourne, Victoria, Australia

In 2017, the court case over medical treatment of UK infant, Charlie Gard, reached global attention. In this article, I will analyze one of the more distinctive elements of the case. The UK courts concluded that treatment of Charlie Gard was not in his best interests and that it would be permissible to withdraw life-sustaining treatment.

View Article and Find Full Text PDF

Respiratory Syncytial Virus Vaccination during Pregnancy and Effects in Infants.

N Engl J Med

July 2020

From the Medical Research Council, Respiratory and Meningeal Pathogens Research Unit, and the Department of Science and Technology-National Research Foundation, Vaccine Preventable Diseases, University of the Witwatersrand (S.A.M., C.L.C.), and Shandukani Research Centre, Wits Reproductive Health and HIV Institute (M.S.M.), Johannesburg, Setshaba Research Centre, Soshanguve (K.A., A.O.), and the Family Centre for Research with Ubuntu, Department of Paediatrics and Child Health, Stellenbosch University, Tygerberg Hospital (M.F.C.), and the Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, South African Medical Research Council Unit on Child and Adolescent Health, University of Cape Town (H.J.Z.), Cape Town - all in South Africa; Fundación INFANT (F.P.P., R.L.), Hospital Militar Central Dr. Cosme Argerich (G.P.M.), and the National Scientific and Technical Research Council (R.L.), Buenos Aires, and the Department of Pediatric Pulmonology, Hospital del Niño Jesús, Tucumán (C.J.L.) - both in Argentina; the Departments of Pediatrics and Molecular Virology and Microbiology, Baylor College of Medicine, Houston (P.A.P., F.M.M.); the University of Auckland, Middlemore Hospital, Auckland, New Zealand (A.A.T.); the Department of Pediatrics, University of Colorado School of Medicine, and the Children's Hospital Colorado, Center for Global Health, Colorado School of Public Health, Aurora (E.A.F.S.); the Department of Obstetrics and Gynecology, Duke University, Durham, NC (G.K.S.); Novavax (S.A., A.A., J.C., I.C., A.F., J.S.P., V.S., D.N.T., J.W., G.M.G., L.F.F.), Gaithersburg, and the Department of International Health, International Center for Maternal and Newborn Health (A.H.B.), and the Center for American Indian Health, Department of International Health (L.H.), Johns Hopkins Bloomberg School of Public Health, Baltimore - all in Maryland; the Vaccine Institute (A.C., P.T.H.) and the Vascular Biology Research Centre, Molecular and Clinical Sciences Research Institute (A.K.), St. George's, University of London, London, Paediatric Infectious Diseases, Clinical and Experimental Sciences, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton (C.E.J.), and the Oxford Vaccine Group, Department of Paediatrics, University of Oxford and National Institute for Health Research Oxford Biomedical Research Centre (M.D.S.), and the Nuffield Department of Women's and Reproductive Health, University of Oxford (M.V.), Oxford - all in the United Kingdom; the Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle (J.A.E.);the Department of Obstetrics and Gynecology, Wayne State University, Detroit (B.G.); the Research Institute for Tropical Medicine, Muntinlupa, Philippines (J.N.J., M.L.); the Department of Pediatrics (D.W.K.) and the Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology and Center for Women's Reproductive Health (A.T.T.), University of Alabama, Birmingham; the Women's and Children's Hospital and Robinson Research Institute, University of Adelaide, Adelaide, SA (H.S.M.), the Melbourne School of Population and Global Health, University of Melbourne, and Murdoch Children's Research Institute, Parkville, VIC (T.M.N., K.P.P.), and Wesfarmers Center of Vaccines and Infectious Diseases, Telethon Kids Institute, Division of Paediatrics, School of Medicine, University of Western Australia, Perth Children's Hospital, Perth (P.C.R., T.S.) - all in Australia; Marshfield Clinic Research Institute, Marshfield, WI (J.K.M.); Pediatría Clínica, Infectología y Traslacional Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, Spain (F.M.-T.); the Division of General Pediatrics, Department of Pediatrics, School of Medicine (J.H.S.), and the Department of Obstetrics and Gynecology (M.W.V.), University of Utah Health Sciences Center, Salt Lake City; Meridian Clinical Research, Norfolk, NE (K.V.); and the International Center for Diarrhoeal Disease Research Bangladesh, Dhaka (K.Z.).

Background: Respiratory syncytial virus (RSV) is the dominant cause of severe lower respiratory tract infection in infants, with the most severe cases concentrated among younger infants.

Methods: Healthy pregnant women, at 28 weeks 0 days through 36 weeks 0 days of gestation, with an expected delivery date near the start of the RSV season, were randomly assigned in an overall ratio of approximately 2:1 to receive a single intramuscular dose of RSV fusion (F) protein nanoparticle vaccine or placebo. Infants were followed for 180 days to assess outcomes related to lower respiratory tract infection and for 364 days to assess safety.

View Article and Find Full Text PDF

Fluid Fasting in Children: Solid Science?

Anesthesiology

September 2020

From the Department of Anesthesiology, Pharmacology, Intensive Care and Emergency Medicine, University Hospitals of Geneva, Geneva, Switzerland (L.V.) the Department of Anaesthesia and Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia (A.D.).

View Article and Find Full Text PDF

Developing Consensus-Based Outcome Domains for Trials in Children and Adolescents With CKD: An International Delphi Survey.

Am J Kidney Dis

October 2020

Sydney School of Public Health, The University of Sydney, NSW, Australia; Centre for Kidney Research, The Children's Hospital at Westmead, Westmead, NSW, Australia. Electronic address:

Rationale & Objective: The inconsistency in outcomes reported and lack of patient-reported outcomes across trials in children with chronic kidney disease (CKD) limits shared decision making. As part of the Standardized Outcomes in Nephrology (SONG)-Kids initiative, we aimed to generate a consensus-based prioritized list of critically important outcomes to be reported in all trials in children with CKD.

Study Design: An online 2-round Delphi survey in English, French, and Hindi languages.

View Article and Find Full Text PDF

Trials in children with chronic kidney disease do not consistently report outcomes that are critically important to patients and caregivers. This can diminish the relevance and reliability of evidence for decision making, limiting the implementation of results into practice and policy. As part of the Standardized Outcomes in Nephrology-Children and Adolescents (SONG-Kids) initiative, we convened 2 consensus workshops in San Diego, California (7 patients, 24 caregivers, 43 health professionals) and Melbourne, Australia (7 patients, 23 caregivers, 49 health professionals).

View Article and Find Full Text PDF

Governments around the world have implemented measures to manage the transmission of coronavirus disease 2019 (COVID-19). While the majority of these measures are proving effective, they have a high social and economic cost, and response strategies are being adjusted. The World Health Organization (WHO) recommends that communities should have a voice, be informed and engaged, and participate in this transition phase.

View Article and Find Full Text PDF