Purpose: Despite nearly a quarter of Canadians and Americans reported to be living with a disability, persons with disabilities continue to face both physical and cultural barriers with respect to careers in medicine. Equity, diversity, and inclusion (EDI) statements can act as a first step in deconstruction of these cultural barriers. However, when compared to other EDI initiatives focused on gender, race, and ethnicity, persons with disabilities receive little attention.
View Article and Find Full Text PDFGastropulmonary fistula represents a late complication of sleeve gastrectomy and, if untreated, has high morbidity and mortality. We present a case report of a 29-year-old female who developed a gastropulmonary fistula 3 years after a sleeve gastrectomy. Dual energy CT of the chest and upper abdomen demonstrated a cavitary left lower lobe lesion associated with a focal complex pleural effusion; iodinated oral contrast confirmed the presence of a fistulous connection through the left hemidiaphragm.
View Article and Find Full Text PDFGenomic medicine, an emerging medical discipline, applies the principles of evolution, developmental biology, functional genomics, and structural genomics within clinical care. Enabling widespread adoption and integration of genomic medicine into clinical practice is key to achieving precision medicine. We delineate a biological framework defining diagnostic utility of genomic testing and map the process of genomic medicine to inform integration into clinical practice.
View Article and Find Full Text PDFAmyloid beta (Aβ) deposits in the retina of the Alzheimer's disease (AD) eye may provide a useful diagnostic biomarker for AD. This study focused on the relationship of Aβ with macroglia and microglia, as these glial cells are hypothesized to play important roles in homeostasis and clearance of Aβ in the AD retina. Significantly higher Aβ load was found in AD compared to controls, and specifically in the mid-peripheral region.
View Article and Find Full Text PDFStudy Objectives: As cannabis is increasingly used to treat sleep disorders, we performed a systematic review to examine the effects of cannabis on sleep and to guide cannabis prescribers in their recommendations to patients, specifically focusing on dosing.
Methods: We searched EMBASE, Medline, and Web of Science and identified 4550 studies for screening. Five hundred sixty-eight studies were selected for full-text review and 31 were included for analysis.
Purpose: Genomic test results, regardless of laboratory variant classification, require clinical practitioners to judge the applicability of a variant for medical decisions. Teaching and standardizing clinical interpretation of genomic variation calls for a methodology or tool.
Methods: To generate such a tool, we distilled the Clinical Genome Resource framework of causality and the American College of Medical Genetics/Association of Molecular Pathology and Quest Diagnostic Laboratory scoring of variant deleteriousness into the Clinical Variant Analysis Tool (CVAT).
Microphthalmia, anophthalmia, and coloboma (MAC) are a heterogeneous spectrum of anomalous eye development and degeneration with genetic and environmental etiologies. Structural and copy number variants of chromosome 13 have been implicated in MAC; however, the specific loci involved in disease pathogenesis have not been well-defined. Herein we report a newborn with syndromic degenerative anophthalmia and a complex de novo rearrangement of chromosome 13q.
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