"I Don't Do Much Without Researching Things Myself": A Mixed Methods Study Exploring the Role of Parent Health Literacy in Autism Services Use for Young Children.

Little is known about how parent health literacy contributes to health-related outcomes for children with autism. This mixed-methods study included 82 U.S.

Implementing an integrated multi-technology platform for drug checking: Social, scientific, and technological considerations.

The illicit drug overdose crisis in North America continues to devastate communities with fentanyl detected in the majority of illicit drug overdose deaths. The COVID-19 pandemic has heightened concerns of even greater unpredictability in the drug supplies and unprecedented rates of overdoses. Portable drug-checking technologies are increasingly being integrated within overdose prevention strategies.

Initial results of a drug checking pilot program to detect fentanyl adulteration in a Canadian setting.

Background: Opioid overdose deaths in North America have been rising largely as a result of fentanyl adulteration in the illegal drug supply. Drug checking is an established harm reduction intervention in some European settings but has not been broadly implemented or evaluated in North America. We are evaluating a pilot program offering drug checking for people who use street drugs in Vancouver, British Columbia.

The genotypic and phenotypic spectrum of MTO1 deficiency.

Background: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10).

Material And Methods: Thirty five cases of MTO1 deficiency were identified and reviewed through international collaboration.

Exome Sequencing and the Management of Neurometabolic Disorders.

Background: Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular level.