Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene. Approximately 25% of individuals with PMS have epilepsy. Treatment of epilepsy in PMS may require multiple anticonvulsants, and in a minority of cases, seizures remain poorly controlled.
View Article and Find Full Text PDFBackground: Persons with HIV (PWH) on contemporary antiretroviral therapy (ART) are at elevated risk for developing age-related cardiometabolic diseases. We hypothesized that integrative analysis of cross-tissue, multimodal data from PWH could provide insight into molecular programming that defines cardiometabolic phenotypes in this high-risk group.
Methods: We enrolled 93 PWH without diabetes who were virologically suppressed on contemporary ART and obtained measures of insulin resistance, glucose intolerance, and adiposity.
Nontyphoidal infections are a leading cause of enteric disease in Canada, most commonly associated with foodborne exposures. Raw frozen breaded chicken products (FBCP) have been implicated in 16 outbreaks between 2017 and 2019. This study quantified the impact of the 1 April 2019 requirement by the Canadian Food Inspection Agency (CFIA) for manufacturers to reduce in raw FBCP.
View Article and Find Full Text PDF. Maternal evacuation-the transfer of women from remote communities to urban hospitals for childbirth-negatively affects many Indigenous Peoples in Canada. A working group of perinatal service providers in Montreal sought to enhance cultural safety in a high-risk obstetrical unit serving evacuee Indigenous families.
View Article and Find Full Text PDFObjective: The objective of this study was to determine the unique clinical and cardiometabolic risk characteristics of weight-cyclers and identify differences between weight-cyclers and individuals with other weight-change trajectories.
Methods: A deidentified database of 1,428,204 Vanderbilt University Medical Center patients from 1997 to 2020 was included based on having ≥5 years of recorded weights. Patients with a history of malignant neoplasm, bariatric surgery, implausible BMI (e.