A5023542996- Metabolism and Genetic Disorders
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Folate and B Vitamins Research
- Ethics in Clinical Research
- Genomic variations and chromosomal abnormalities
- Healthcare Quality and Management
- Diet and metabolism studies
- Health Systems, Economic Evaluations, Quality of Life
- Lysosomal Storage Disorders Research
- Adolescent and Pediatric Healthcare
- Innovations in Medical Education
- Genetics and Neurodevelopmental Disorders
- Cellular transport and secretion
- Prenatal Screening and Diagnostics
- Pancreatic function and diabetes
- Pelvic floor disorders treatments
- Delphi Technique in Research
- Parkinson's Disease Mechanisms and Treatments
- Hip disorders and treatments
- Connective tissue disorders research
- Anorectal Disease Treatments and Outcomes
- Antimicrobial Resistance in Staphylococcus
- Neurofibromatosis and Schwannoma Cases
- Healthcare innovation and challenges
McMaster University
2016-2024
McMaster Children's Hospital
2018-2024
Queen's University
2005-2024
Kingston General Hospital
2003-2024
Hamilton Health Sciences
2020-2022
Health Sciences Centre
2020
Queens University
2018
Kingston Health Sciences Centre
2018
University of California, Berkeley
2018
Royal Danish Library
2018
Large-scale genetic studies are highly dependent on efficient and scalable multiplex SNP assays. In this study, we report the development of Molecular Inversion Probe technology with four-color, single array detection, applied to large-scale genotyping up 12,000 SNPs per reaction. While generating 38,429 assays using in a population 30 trios from Centre d'Etude Polymorphisme Humain family panel as part International HapMap project, established conversion rates ∼90% concordance >99.6%...
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) speech/language delay and behavioral problems as the most affected domains was present in 44 participants, additional epilepsy 35 movement disorder 13. Treatment regimens included various combinations/dosages of creatine-monohydrate, l-ornithine, sodium benzoate protein/arginine restricted diets. The median age at treatment...
Predictive and pre-natal testing for Huntington's Disease (HD) has been available since 1987. Initially this was offered by linkage analysis, which surpassed the advent of direct mutation test HD in 1993. Direct analysis provided an accurate that not only enhanced predictive testing, but also permitted diagnostic symptomatic individuals. The objective study to investigate uptake, utilization, outcome predictive, Canada from 1987 April 1, 2000. A retrospective design used; all Canadian...
While literature suggests that sleep is important for cognition and mood, disturbance a prominent feature of neurodegenerative neuropsychiatric disorders, these relationships have not yet been examined in older people ‘‘at risk"" dementia. In this study, 15 with the nonamnestic subtype mild cognitive impairment ([MCI] mean age = 66.7 years, SD 8.7) underwent psychiatric neuropsychological assessment. Participants completed diaries, questionnaires, 2 weeks actigraphy. Key outcome data during...
To effectively translate genetic advances into practice, engagement of primary care providers (PCPs) is essential. Using a qualitative, phenomenological methodology, we analyzed key informant interviews and focus groups designed to explore perspectives urban rural PCPs. PCPs endorsed responsibility integrate genetics their practices expected in medicine expand. However, reported limited knowledge difficulties accessing resources, experts, continuing education. Rural practitioners' additional...
In recent years, decision makers in Canada and elsewhere have expressed a desire for more explicit, evidence-based approaches to priority setting. To achieve this aim within health care organizations, knowledge of both the organizational context stakeholder attitudes towards setting are required. The current work adds limited yet growing body international literature describing practices organizations.A qualitative study was conducted using in-depth, face-to-face interviews with 25 key...
Type 1 Gaucher disease is considered the non-neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report simultaneous occurrence with parkinsonian in four adult patients. The patients had a relatively early onset manifestations, and their was rapidly progressive refractory to therapy. Each different genotype, although alleles carried common N370S mutation. No mutations were identified genes for parkin or alpha-synuclein. concurrence these two phenotypes,...
The rapid expansion of genetic knowledge, and the implications for healthcare has resulted in an increased role Primary Care Providers (PCPs) to incorporate genetics into their daily practice. objective this study was explore self-identified needs, including educational both urban rural order provide care patients.
Identifying patients with rare diseases associated common symptoms is challenging. Hunter syndrome, or Mucopolysaccharidosis type II a progressive disease caused by deficiency in the activity of lysosomal enzyme, iduronate 2-sulphatase. It inherited an X-linked manner resulting males being significantly affected. Expression females varies majority unaffected although may emerge over time. We developed Naïve Bayes classification (NBC) algorithm utilizing clinical diagnosis and contained...
BACKGROUND Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because large variability in outcome selection measurement. Our goal was develop core sets (COSs) for these diseases facilitate meaningful future evidence generation enhance the capacity compare synthesize findings across studies. METHODS Parents and/or caregivers, health professionals, policy advisors completed a Delphi survey participated...
Gaucher disease is caused by mutations in the gene for human glucocerebrosidase, a lysosomal enzyme involved intracellular hydrolysis of glucosylceramide. While over 150 different glucocerebrosidase have been identified patients with disease, not all reported fully characterized as being causative. One such mutation E326K mutation, which results from G to A nucleotide substitution at genomic position 6195 and has type 1, 2 3 disease. However, each instance, was found on same allele another...
The authors report on a 7-year-old male, designated FR, who has severe sensorineural hearing loss. Features include round face, hypertelorism, epicanthal folds, and flat nasal root. Although there were early developmental concerns regarding all but his speech delay resolved when he was placed in an educational program that accommodated Genetic studies performed to investigate genetic causes for loss.History, physical examination, audiologic assessment, imaging according usual practice....