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Surfacing undiagnosed disease: consideration, counting and codingThe diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey.
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Parental Experiences of Supporting the Mental Health of Their LGBTQA+ ChildYoung people who are lesbian, gay, bisexual, trans, queer or questioning, asexual and other diverse genders and sexualities (LGBTQA+) are at greater risk of adverse mental health outcomes and suicide, with additional barriers to accessing safe and affirming physical and mental health services in comparison to the general population.
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CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural inductionAn estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered.
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Airway management in neonates and infants: European Society of Anaesthesiology and Intensive Care and British Journal of Anaesthesia joint guidelinesAirway management is required during general anaesthesia and is essential for life-threatening conditions such as cardiopulmonary resuscitation. Evidence from recent trials indicates a high incidence of critical events during airway management, especially in neonates or infants. It is important to define the optimal techniques and strategies for airway management in these groups.
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Considerations for collecting and analyzing longitudinal data in observational cohort studies of transgender, non-binary, and gender diverse peopleThe health and well-being of transgender, non-binary, and gender-diverse people is receiving increasing attention from epidemiologists and public health researchers, including those utilizing longitudinal observational cohort studies.
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Prevalence of Eating Disorder Symptoms in Transgender and Gender Diverse Adolescents Presenting for Gender-Affirming CareTo describe the prevalence of eating disorder symptoms among adolescents seeking gender-affirming care.
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Monitoring the physical and mental health of Australian children and young people: a foundation for responsive and accountable actionsPete Azzopardi PhD, FRACP, MEpi, MBBS, GDipBiostats, BMedSci Head, Adolescent Health and Wellbeing Head, Adolescent Health and Wellbeing Professor
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A Maximum Entropy Model of the Distribution of Dengue Serotype in MexicoPathogen strain diversity is an important driver of the trajectory of epidemics. The role of bioclimatic factors on the spatial distribution of dengue virus serotypes has, however, not been previously studied. Hence, we developed municipality-scale environmental suitability maps for the four dengue virus serotypes using maximum entropy modeling.
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Efficacy of the MiniMed™ 670G hybrid closed loop system in managing postprandial glucose excursion with high protein high fat foods in children and adolescents under free-living conditionsHigh protein high fat meals are considered “difficult” foods because they can cause prolonged hyperglycemia after ingestion. The potential of hybrid closed loop therapy in managing postprandial glucose excursions with these difficult foods remains unknown. This pilot study aimed to explore the impact of manual mode in standard insulin pump therapy and auto mode with hybrid closed loop pump therapy in managing glucose excursions caused by HPHF foods and to obtain feedback from families about each mode.
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Early Peanut Immunotherapy in Children (EPIC) trial: Protocol for a pragmatic randomised controlled trial of peanut oral immunotherapy in children under 5 years of ageFood allergy is a major public health challenge in Australia. Despite widespread uptake of infant feeding and allergy prevention guidelines the incidence of peanut allergy in infants has not fallen, and prevalence of peanut allergy in school-aged children continues to rise. Therefore, effective and accessible treatments for peanut allergy are required.