A5022899967- Folate and B Vitamins Research
- Metabolism and Genetic Disorders
- RNA modifications and cancer
- Alzheimer's disease research and treatments
- Glycosylation and Glycoproteins Research
- Dementia and Cognitive Impairment Research
- Porphyrin Metabolism and Disorders
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Transplantation: Methods and Outcomes
- Amino Acid Enzymes and Metabolism
- Blood Coagulation and Thrombosis Mechanisms
- Biochemical and Molecular Research
- Renal Transplantation Outcomes and Treatments
- Iron Metabolism and Disorders
- Protease and Inhibitor Mechanisms
- Lipoproteins and Cardiovascular Health
- Pharmaceutical studies and practices
- Esophageal and GI Pathology
- RNA and protein synthesis mechanisms
- Poisoning and overdose treatments
- BRCA gene mutations in cancer
- Hemodynamic Monitoring and Therapy
- Anesthesia and Pain Management
- Skin Protection and Aging
McGill University
2008-2024
McGill University Health Centre
2014-2024
University of Pittsburgh
2022
Montreal Neurological Institute and Hospital
2022
Douglas Mental Health University Institute
2022
Royal Victoria Hospital
1993-2020
Royal Victoria Regional Health Centre
2002-2009
University of Manitoba
1999
Medical Council of Canada
1998
Université de Montréal
1993-1997
Apolipoprotein E (apoE) is critical in the modulation of cholesterol and phospholipid transport between cells different types. Human apoE a polymorphic protein with three common alleles, APO epsilon 2, 3, 4. ApoE4 associated sporadic late-onset familial Alzheimer disease (AD). Gene dose was shown to have an effect on risk developing AD, age onset, accumulation senile plaques brain, reduction choline acetyltransferase (ChAT) activity hippocampus AD subjects. To characterize possible impact...
Folic acid administration to women in the periconceptional period reduces occurrence of neural tube defects (NTDs) their offspring. A polymorphism gene encoding methylenetetrahydrofolate reductase (MTHFR), 677C-->T, is first genetic risk factor for NTDs man identified at molecular level. The another folate-dependent enzyme, methionine synthase (MTR), has recently been cloned and a common variant, 2756A-->G, identified. We assessed genotypes folate status 56 patients with spina bifida, 62...
Homocysteine (Hcy), increasingly being recognized as a risk factor for vascular disease (1), is found primarily in plasma the form of homocystine and mixed disulfides, both protein-bound unbound; total Hcy (tHcy) sum all species obtained after quantitative reduction. Several methods are currently used to measure tHcy plasma, including GC/MS, ion-exchange chromatography, HPLC (2). In one most popular techniques, any homocysteine-mixed disulfides present reduced with tri-butyl phosphine (TBP)...
In the present study, we examine effects of vitamin A on keratin protein and mRNA levels in human ketatinocytes.In epidermal keratinocytes, keratins 5, 6, 14, 17 decrease 13 19 increase response to increasing concentrations a potent synthetic trans-retinoic acid analog, arotinoid Ro ,13-6298.In tracheal similar suppression is observed for 17, 18 an 19.Both induction responses show identical kinetics both processes are half-maximal at 5 n M maximal 10 ~.Utilizing cDNAs specific 13, 19,...
Abstract Apoliprotein E (apoE) is associated with Alzheimer's neurofibrillary tangles and β‐amyloid protein in senile plaques. Recent studies have shown an increased frequency of the ϵ4 allele apoE gene familial sporadic cases disease (AD). In present case control study, we determined genotype by allele‐specific extension 113 postmortem AD 77 brains to be free neuropathological features then calculated various allelic forms (ϵ2, ϵ3,ϵ4). The odds ratio associating was 15.5 (95% confidence...
Background: Although the current gold standard for diagnosing thyroid nodule malignancy is ultrasound-guided fine-needle aspiration (FNA) cytology, about 20-25% of cytological evaluations are considered indeterminate malignancy. This limitation has led to emergence next-generation sequencing panels, example, ThyroSeq v3 (TSv3), which recognize highly diagnostic genetic mutations common carcinomas in FNA samples and classify them as test-negative or test-positive, helping optimize treatment...
As the coronavirus disease 2019 (COVID-19) pandemic second wave is emerging, it of upmost importance to screen population immunity in order keep track infected individuals. Consequently, immunoassays for severe acute respiratory syndrome 2 (SARS-CoV-2) with high specificity and positive predictive values are needed obtain an accurate epidemiological picture. more data accumulate about immune responses kinetics neutralizing-antibody (nAb) production SARS-CoV-2-infected individuals, new...
Background Cystinosis is a rare disorder caused by recessive mutations of the CTNS gene. Current therapy decreases cystine accumulation, thus slowing organ deterioration without reversing renal Fanconi syndrome or preventing eventual need for kidney transplant.15-20% cystinosis patients harbour at least one nonsense mutation in CTNS, leading to premature end translation transcript. Aminoglycosides have been shown permit translational read-through but high toxicity level, especially and inner...
Abstract The biological action of retinoids has been assayed using the differentiated properties cultured human conjunctival keratinocytes. effects measured were suppression envelope cross‐linking and promotion synthesis a keratin molecular weight 40,000. Among tested, most powerful was arotinoid Ro 13–6298, which reduced formation detectably at 10 −11 M by 90% concentration 2 × −10 M. about 15 times more potent than trans‐retinoic acid. order effectiveness in suppressing same as promoting...
Lipid resuscitation therapy using intravenous lipid emulsion (IVLE) for drug overdoses has gained widespread use. However, there is little information regarding its adverse effects.We performed lipemic interference studies on typical automated platforms to investigate the potential of interfere with reliability and turnaround time analytes that would be interest in acute intoxications. We also tested methods minimize interferences.Serum pools were supplemented increasing concentrations...
The discrepancy between genotype and expressed phenotype of the polymorphic N-acetyltransferase (NAT2) has been suggested by separate genotypic phenotypic studies in populations with human immunodeficiency virus (HIV). Only one study examined both same population, no discrepancies were observed.In a cross-sectional study, 105 HIV-positive patients acquired syndrome (AIDS) phenotyped for NAT2 activity use caffeine as an vivo probe; 50 these also genotyped restriction mapping allele-specific...
Background Prospective studies of East Finnish men demonstrated an increased risk myocardial infarction in association with elevated serum ferritin levels (≥200 μg/l). The present study was designed to explore whether concentrations are related angiographically determined coronary artery disease or a past history infarction. Methods We studied 225 and 74 women, most them French-Canadian origin, undergoing elective arteriography, classified according the presence, absence, severity...
Using whole-exome sequencing, we identified homozygous mutations in two unlinked genes, SEC23A c.1200G>C (p.M400I) and MAN1B1 c.1000C>T (p.R334C), associated with congenital birth defects patients from a consanguineous family. Patients presented carbohydrate-deficient transferrin, tall stature, obesity, macrocephaly, maloccluded teeth. The parents were healthy heterozygous carriers for both an unaffected sibling stature carried the mutation only. Mutations are responsible...
Abstract The use of protease inhibitors such as ritonavir to treat HIV‐infected individuals has been associated with lipodystrophy, combined hyperlipidemias, and hypertriglyceridemia‐induced pancreatitis. We report here on the treatment by plasmapheresis a HIV‐patient who presented rapid onset severe ritonavir‐induced hypertriglyceridemia complicated an acute A 35‐year‐old HIV‐1 positive male following 3 weeks nausea, abdominal pain, distended abdomen, laboratory values: amylase (238 U/L),...