Novel characterization of variant through whole-exome sequencing in a monochorionic diamniotic twin fetus with significant brain anomalies: A case report.

Whole-exome sequencing is an evolving technology in perinatal diagnosis which allows identification of genetic etiologies that would otherwise go undetermined. In this case report, a 38-year-old Hispanic woman, G5P3013, with a monochorionic diamniotic twin gestation with one fetus displaying significant cranial abnormalities on prenatal ultrasound and magnetic resonance imaging (MRI) of the brain is presented. Fetal anomalies included bilateral ventriculomegaly, absent cavum septum pellucidum, and absent corpus callosum.

"Knowledge is Power": Parent Views on the Benefits of Early Diagnosis and Awareness of Sex Chromosome Multisomy Among Pediatric Professionals.

Objective: Pediatric diagnoses of sex chromosome multisomies (SCMs) have increased as genetic testing has expanded. However, depending on SCM presentation, there may be significant delays between symptom recognition and diagnosis. We conducted a survey of parents of children diagnosed with SCMs to understand their experiences receiving an SCM diagnosis and their support needs.

Motivations for concurrent use of uppers and downers among people who access harm reduction services in British Columbia, Canada: findings from the 2019 Harm Reduction Client Survey.

Introduction: An increase in crystal methamphetamine (methamphetamine) use during the overdose epidemic is being observed in British Columbia (BC), Canada, and across North America. Concurrent use (ie, using uppers and downers one after the other or together) can increase the risk of fatal and non-fatal opioid overdose.

Objectives: We investigated motivations for concurrent use of uppers and downers, specifically how (eg, in what order) and why people use concurrently, to identify potential interventions to prevent overdose and other harms.

Correlates of concurrent use of stimulants and opioids among people who access harm reduction services in British Columbia, Canada: Findings from the 2019 Harm Reduction Client Survey.

Background: During a public health overdose emergency driven by fentanyl in British Columbia (BC), Canada, a parallel increase in concurrent use of methamphetamines may be contributing to the risk of overdose. Concurrent use refers to the use of stimulants and opioids one after the other, or together. Describing substance use practices and elucidating correlates of concurrent use can inform harm reduction service provision and prevent overdose events.