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The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendationsChildren living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families. The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future. This is experienced by the patient as well as by the family.
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What supports are people with intellectual disability living in group homes provided to access health care? A case studyPeople with intellectual disabilities living in group homes often have complex health needs, are high health service users and need support from their service provider to access health services. In Australia, little is known about the types and amounts of these supports.
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What matters for pregnant women with rheumatic heart disease - perspectives of health service providers: A qualitative studyJonathan Carapetis AM AM MBBS FRACP FAFPHM PhD FAHMS Executive Director; Co-Head, Strep A Translation; Co-Founder of REACH 08 6319 1000 contact@
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Development of best practice guidelines for clinical and community service providers to prevent suicide in LGBTQA+ young people: A Delphi expert consensus studyThe aim of this study was to develop best practice guidelines for preventing suicide and reducing suicidal thoughts and behaviours in LGBTQA+ young people (lesbian, gay, bisexual, trans, queer/questioning, asexual, and those of other diverse sexualities and genders) within clinical and community service settings in Australia.
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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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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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Diagnostic services for developmental coordination disorder: Gaps and opportunities identified by parentsAffecting one in 20 children, Developmental Coordination Disorder (DCD) is a common neurodevelopmental disorder impacting a child's ability to learn motor skills. Despite its high prevalence, DCD is under-recognized and under-diagnosed, causing unnecessary frustration and stress for families who are seeking help for their child. This study aimed to understand how parents procure diagnostic services and their perspectives on needed supports and services to improve early identification and diagnosis of DCD.