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Full-Text Articles in Analytical, Diagnostic and Therapeutic Techniques and Equipment
Ultra-High Field Magnetic Resonance Imaging For Stereotactic Neurosurgery, Jonathan Lau
Ultra-High Field Magnetic Resonance Imaging For Stereotactic Neurosurgery, Jonathan Lau
Electronic Thesis and Dissertation Repository
Stereotactic neurosurgery is a subspecialty within neurosurgery concerned with accurate targeting of brain structures. Deep brain stimulation (DBS) is a specific type of stereotaxy in which electrodes are implanted in deep brain structures. It has proven therapeutic efficacy in Parkinson’s disease and Essential Tremor, but with an expanding number of indications under evaluation including Alzheimer’s disease, depression, epilepsy, and obesity, many more Canadians with chronic health conditions may benefit. Accurate surgical targeting is crucial with millimeter deviations resulting in unwanted side effects including muscle contractions, or worse, vessel injury. Lack of adequate visualization of surgical targets with conventional lower field …
Improving The Genetic Diagnosis Of Familial Hypercholesterolemia, Michael Iacocca
Improving The Genetic Diagnosis Of Familial Hypercholesterolemia, Michael Iacocca
Electronic Thesis and Dissertation Repository
Familial hypercholesterolemia (FH) is a genetic disorder of severely elevated low-density lipoprotein (LDL) cholesterol that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a central part of diagnosis. I describe three main ways providing a genetic diagnosis in FH can be improved. First, next-generation sequencing (NGS)-based approaches can be used to reliably identify large-scale variant types known as copy number variations (CNVs) in the LDL receptor gene (LDLR); second, NGS methodology can be further applied to extend CNV screening to …