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Research

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An 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. 

Research

Longitudinal effects of dog ownership, dog acquisition, and dog loss on children’s movement behaviours: findings from the PLAYCE cohort study

Regular physical activity is important for children's physical and mental health, yet many children do not achieve recommended amounts of physical activity. Dog ownership has been associated with increased physical activity in children, however, there have been no longitudinal studies examining this relationship.

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Airway management in neonates and infants: European Society of Anaesthesiology and Intensive Care and British Journal of Anaesthesia joint guidelines

Airway 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.

Research

Prevalence of Eating Disorder Symptoms in Transgender and Gender Diverse Adolescents Presenting for Gender-Affirming Care

To describe the prevalence of eating disorder symptoms among adolescents seeking gender-affirming care.

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Diagnostic services for developmental coordination disorder: Gaps and opportunities identified by parents

Affecting 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. 

Research

“An expected part of being trans”: The experienced and anticipated stigma of trans adolescents

Trans adolescents experience and anticipate stigma to the detriment of their mental health; however, trans adolescents have rarely been consulted about their stigma experiences. This study aimed to understand trans adolescents’ lived experiences of experienced and anticipated stigma.

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Lived Experiences of Empowerment in Parents of Trans Children and Adolescents

The construct of empowerment is associated with beneficial outcomes in numerous populations with well-being across multiple domains. Within families, empowerment has been found to be related to both parent and child well-being. As such, empowerment appears to be a promising concept to support parents of young (< 18 years) trans and gender diverse children and adolescents; however, what empowerment means for parents of trans children and adolescents is not known.

Research

SNO-EANO-EURACAN consensus on management of pineal parenchymal tumors

Pineal parenchymal tumors are rare neoplasms for which evidence-based treatment recommendations are lacking. These tumors vary in biology, clinical characteristics, and prognosis, requiring treatment that ranges from surgical resection alone to intensive multimodal antineoplastic therapy.

Research

How can modeling responsibly inform decision-making in malaria?

When models are used to inform decision-making, both their strengths and limitations must be considered. Using malaria as an example, we explain how and why models are limited and offer guidance for ensuring a model is well-suited for its intended purpose.

Research

Malaria treatment for prevention: a modelling study of the impact of routine case management on malaria prevalence and burden

Testing and treating symptomatic malaria cases is crucial for case management, but it may also prevent future illness by reducing mean infection duration. Measuring the impact of effective treatment on burden and transmission via field studies or routine surveillance systems is difficult and potentially unethical. This project uses mathematical modeling to explore how increasing treatment of symptomatic cases impacts malaria prevalence and incidence.