A5012098838- Lysosomal Storage Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Cellular transport and secretion
- Carbohydrate Chemistry and Synthesis
- Glioma Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Economic and Financial Impacts of Cancer
- CNS Lymphoma Diagnosis and Treatment
- Nutrition and Health in Aging
- Management of metastatic bone disease
- melanin and skin pigmentation
- Cancer survivorship and care
- Economic Zones and Regional Development
- Frailty in Older Adults
- Renal cell carcinoma treatment
- Palliative Care and End-of-Life Issues
- Acute Lymphoblastic Leukemia research
- RNA regulation and disease
- Banana Cultivation and Research
- Health and Wellbeing Research
Irish Hospice Foundation
2021
McGill University
2016-2019
Montreal Neurological Institute and Hospital
2015-2019
Columbia University
2016
National Human Genome Research Institute
2016
National Institutes of Health
2016
Beaumont Hospital
2016
Abstract Background SMPD1 (acid‐sphingomyelinase) variants have been associated with Parkinson's disease in recent studies. The objective of this study was to further investigate the role mutations PD. Methods sequenced 3 cohorts (Israel Ashkenazi Jewish cohort, Montreal/Montpellier, and New York), including 1592 PD patients 975 controls. Additional data were available for 10,709 Acid‐sphingomyelinase activity measured by a mass spectrometry‐based assay York cohort. α‐Synuclein levels vitro...
The lysosomal enzyme glucocerebrosidase (GCase), encoded by GBA, has an important role in Parkinson disease (PD). GBA mutation carriers have increased risk for PD, earlier age at onset, faster progression, and various nonmotor symptoms including cognitive decline, REM sleep behavior disorder, hyposmia, autonomic dysfunction.(1) Furthermore, GCase enzymatic activity is reduced the peripheral blood(2) brain(3) of noncarrier, sporadic PD patients. Biallelic mutations, which been classified as...
Background: Systemic anti-cancer treatment (SACT) can improve symptoms and survival in patients with incurable cancer but there may be harmful consequences. Information regarding the use of SACT at end-of-life its impact on has not been described Ireland. Aims: The study aimed to quantify describe end-of-life. primary outcome interest was number who received last 12, 4 2 weeks life. Secondary outcomes included frequency admissions procedures, location death, timing specialist palliative care...
Background: The Edmonton Frail Scale (EFS) is a geriatric assessment tool.It covers: Cognition, Health, Independence, Performance, Social, Medications, Nutrition, Mood, and Continence.We prospectively examined the EFS as predictor of adverse outcomes in older patients undergoing systemic cancer therapy.Methods: With ethics approval, aged ≥ 65 years, who were prescribed new treatment by their Consultant Medical Oncologist approached for participation.All gave written informed consent assessed...
554 Background: Sunitinib is a receptor tyrosine kinase inhibitor that has proven activity as first line treatment for metastatic renal cell carcinoma (mRCC). The recommended dose 50mg once daily in 4 week on 2 off schedule. However this regimen significant side effect profile and alternative schedules have been used to minimize reductions maintain intensity. We sought identify the incidence of modifications assess toxicity patients treated with two sunitinib National Cancer Center. Methods:...