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Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic VariantsBirk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.
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The non-specific effects of maternal immunization on birth outcomes: The evidence, mechanisms, and the implicationsPreterm birth (PTB) and stillbirth remain two of the most important causes of death, morbidity, and disability in childhood. Despite efforts to reduce PTB and stillbirth worldwide, rates of these adverse outcomes remain persistently elevated, independent of income setting. There is an urgent need for more effective interventions to reduce associated neonatal and early childhood morbidity and mortality.
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Identification of fatty acid amide hydrolase as a metastasis suppressor in breast cancerClinical management of breast cancer (BC) metastasis remains an unmet need as it accounts for 90% of BC-associated mortality. Although the luminal subtype, which represents >70% of BC cases, is generally associated with a favorable outcome, it is susceptible to metastatic relapse as late as 15 years after treatment discontinuation.
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Parental awareness and attitudes towards prevention of respiratory syncytial virus in infants and young children in AustraliaTo assess parental awareness of respiratory syncytial virus (RSV) and the level of acceptance of future RSV prevention strategies. A cross-sectional online survey was implemented targeting "future" and "current" parents of children aged ≤5 years in Australia.
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Maternal diet during breastfeeding: Could it influence food allergy risk in children?Human milk is rich in immuno-modulatory factors that have the potential to shape immune development and influence allergy risk in children. In this article, we describe how breast milk may contribute to making the infant less prone to developing allergies.
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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseGenomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.
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Factors influencing public perceptions of child neglect: A mixed methods studyMore than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect.
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Goal Motives, Mental Contrasting With Implementation Intentions, and the Self-Regulation of Saving Goals: A Longitudinal InvestigationWe investigated howautonomous and controlled motives for saving money contribute longitudinally to selfregulatory coping, goal progress, and psychological need satisfaction/frustration. We also investigated whether mental contrasting with implementation intentions (MCII) facilitates saving through interactions with controlled goal motives.
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The influence of the COVID pandemic on the management of URTI in childrenBritta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant
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Stroke incidence in Indigenous, minority populations: a review of methods for studying stroke in Aboriginal and Torres Strait Islander AustraliansDeclining worldwide or national stroke incidence rates are not always mirrored in disadvantaged, minority populations. Logistical barriers exist for effective measurement of incidence in minority populations; such data are required to identify targets for culturally appropriate interventions. In this comparative review, we aimed to examine whether “gold-standard” methodologies of stroke incidence studies are most effective for minority populations.