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Research
CAGE-defined promoter regions of the genes implicated in Rett SyndromeA comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome
Research
The FASTK family proteins fine-tune mitochondrial RNA processingTranscription of the human mitochondrial genome and correct processing of the two long polycistronic transcripts are crucial for oxidative phosphorylation. According to the tRNA punctuation model, nucleolytic processing of these large precursor transcripts occurs mainly through the excision of the tRNAs that flank most rRNAs and mRNAs.
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Population and Public Health Perspectives on Late Language Emergence at 24 Months as a Risk Indicator for Language Impairment at 7 YearsThe emergence of language during the toddler period is one of the most striking accomplishments in young children's development.
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Application of Inertial Measurement Units and Machine Learning Classification in Cerebral Palsy: Randomized Controlled TrialCerebral palsy (CP) is a physical disability that affects movement and posture. Approximately 17 million people worldwide and 34,000 people in Australia are living with CP. In clinical and kinematic research, goniometers and inclinometers are the most commonly used clinical tools to measure joint angles and positions in children with CP.
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A modified Delphi study of screening for fetal alcohol spectrum disorders in AustraliaThe aim of this study was to identify health professionals' perceptions about screening for fetal alcohol spectrum disorders (FASD) in Australia.
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Is there a role for lung-protective ventilation in healthy children?Lung-protective ventilation (LPV) has been adopted in the theater environment as a strategy to reduce pulmonary complications under anesthesia. Postoperative pulmonary complications are not infrequent and may have significant implications on the postoperative length of stay as well as the morbidity and mortality of pediatric patients.
The aim of the study is the early identification of problems with the current flu vaccines, and providing parents and professionals with up to date information.
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Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.
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In vitro antibacterial activity of Western Australian honeys, and manuka honey, against bacteria implicated in impetigoImpetigo is a contagious skin disease caused by Staphylococcus aureus and Streptococcus pyogenes. Without treatment, impetigo may be recurrent, develop into severe disease, or have serious, life-threatening sequelae. Standard treatment consists of topical or systemic antibiotic therapy (depending on severity), however, due to antibiotic resistance some therapies are increasingly ineffective.
Research
The Challenges of Being Physically Active: A Qualitative Study of Young People With Type 1 Diabetes and Their ParentsBenefits of physical activity are well recognized for youth with type 1 diabetes mellitus (T1DM), but being active is challenging. In this study, we aimed to investigate the challenges experienced by adolescents, their parents and young adults with T1DM when they are physically active.
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Pediatric Airway Management in Times of COVID-19-a Review of the Evidence and ControversiesThis review summarizes and provides a comprehensive narrative synthesis of the current evidence on pediatric airway management during the COVID-19 pandemic.
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Preventative therapeutic approaches for hypertrophic cardiomyopathySarcomeric gene mutations are associated with the development of hypertrophic cardiomyopathy (HCM). Current drug therapeutics for HCM patients are effective in relieving symptoms, but do not prevent or reverse disease progression. Moreover, due to heterogeneity in the clinical manifestations of the disease, patients experience variable outcomes in response to therapeutics.
This study is aiming to investigate how sun exposure and time outside impacts the health of your child’s eye and eye growth, over a period of rapid growth in their lives.
Research
Protocol for the systematic review of the epidemiology of superficial Streptococcal A infections (skin and throat) in AustraliaWe have produced a protocol for the comprehensive systematic review of the current literature around superficial group A Streptococcal infections in Australia.
Research
Use of parenteral nutrition in term and late preterm infants: An Australian and New Zealand SurveyThere is limited information regarding the use of parenteral nutrition (PN) in term and late preterm infants. We conducted a survey to study the current clinical practices within Australia and New Zealand (ANZ). A 15-question online-survey was distributed to 232 neonatologists and 55 paediatric intensivists across ANZ between September and November 2019.
News & Events
3rd European Rett Syndrome Conference, October 17-19, Maastricht, The NetherlandsFollowing last year's World Rett Syndrome Congress held in New Orleans, the 3rd European Rett Syndrome Conference was held in the Netherlands over 3 days.