A5007306797- Lipoproteins and Cardiovascular Health
- Cancer, Lipids, and Metabolism
- Lipid metabolism and disorders
- Health and Medical Research Impacts
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Dental Health and Care Utilization
- Pancreatic and Hepatic Oncology Research
- Cholesterol and Lipid Metabolism
- Blood Coagulation and Thrombosis Mechanisms
- Orthodontics and Dentofacial Orthopedics
- Thyroid Cancer Diagnosis and Treatment
- Pancreatitis Pathology and Treatment
- Folate and B Vitamins Research
- Health Systems, Economic Evaluations, Quality of Life
- Drug-Induced Hepatotoxicity and Protection
- Pharmacological Effects and Toxicity Studies
- Thyroid Disorders and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Poisoning and overdose treatments
- Genetic factors in colorectal cancer
- Aortic Thrombus and Embolism
- Iron Metabolism and Disorders
- Dental Education, Practice, Research
McGill University Health Centre
2014-2020
King Faisal Specialist Hospital & Research Centre
2020
Royal Victoria Hospital
2017-2018
Royal Victoria Regional Health Centre
2017-2018
Brampton Civic Hospital
2018
McGill University
2016
AbstractFamilial hypercholesterolemia (FH) is an autosomal codominant lipoprotein disorder characterized by elevated low-density cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease. Definitions for FH rely on complex algorithms that are the basis levels total or LDL-C, clinical features, family history, DNA analysis often difficult to obtain. We propose a novel simplified definition FH. Definite includes: (1) LDL-C (≥ 8.50 mmol/L); (2) ≥ 5.0 mmol/L (for age...
Abstract BACKGROUND Familial hypercholesterolemia (FH) is the most frequent genetic disorder seen clinically and characterized by increased LDL cholesterol (LDL-C) (>95th percentile), family history of LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) in patient or first-degree relatives, presence tendinous xanthomas corneal arcus, a pathogenic mutation LDLR, PCSK9, APOB genes. A diagnosis FH has important clinical implications with respect to lifelong risk ASCVD...
Homocysteine is an amino acid that toxic to vascular endothelial cells, and plasma elevations have been associated with venous thromboembolism. Severe hyperhomocysteinemia (>100 μmol/L) may result from mutations in the genes coding for enzymes trans-sulfuration or folate/vitamin B12-dependent re-methylation pathways. Here, we report case of a young woman severe, recurrent thrombo-embolic events severe (111 μmol/L). We identified homozygous mutation cystathionine β -synthase gene (p.I278T)...