Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Peroxisome Biogenesis DisorderZellweger Spectrum Disorder9 moreThe Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this population clinically, biochemically and genetically. The investigators will prospectively follow patients from Canada, the US and internationally, and collect data from medical evaluations, blood, urine and imaging studies that would be performed on a clinical care basis. For patients who are unable to attend our clinic, we will collect all medical records and images since birth as well as subsequent records/images for the next 5 years or until the end of the study. Clinical data from medical records will be banked in our Peroxisomal Disorder Research Databank and Biobank. The investigators will use this information to identify standards of care and improve management.
Dietary Challenges in the Population of Nursing Homes' Residents
Nutritional StatusNutrient Deficiency9 moreTo obtain up-to-date data on nutritional status of older adults, a national dietary survey will be conducted in 2022/2023, providing data on the consumption of foods and enabling the assessment intakes of energy and specific nutrients. Participating subjects will be also screened for micronutrient status using blood biomarkers (focusing into vitamin D, folic acid, vitamin B12, and iron).
Vitamin E Treatment for Long-Chain 3-Hydroxyacyl Coenzyme A (CoA) Dehydrogenase (LCHAD) Associated...
Peripheral NeuropathyMitochondrial Trifunctional Protein DeficiencyPurpose: People with a genetic defect in the ability to burn fat can also develop a problem with the nerves in their feet. The nerve problem, or neuropathy, can limit their ability to walk. Part of the treatment of their genetic defect in the ability to burn fat is to eat a very low fat diet. Vitamin E is found only in fatty foods like oils and nuts. People with a genetic defect in the ability to burn fat may have low vitamin E because of their low fat diet. The purpose of this study is to test whether vitamin E supplements can improve the nerve function in the feet of people with a genetic defect in the ability to burn fat. Procedures: Blood samples will be drawn at the beginning of the study, after 2 months and after 6 months of vitamin E supplements. The blood will be analyzed for plasma vitamin E concentrations. Around the time of each blood draw subjects will record all the food and beverages he or she consumes for three days. The subject will send the record to the investigator. Subjects will have a physical exam by a doctor specializing in nerves, a neurologist before and after taking vitamin E. They will have nerve function measured with a test called a nerve conduction velocity or NCV. Subjects will be given 800 international units (IU) of vitamin E per day for 6 months.
ETOL-Elderly Study of the Efficiency of the Innovative Food Supplement in Elderly Adults
Vitamin d DeficiencyVitamin B 12 Deficiency1 moreThe aim of this pilot study is to conduct a study on geriatric population in Slovenia (non-users of dietary supplements/medicines with vitamine D, vitamin B12 and protein) and assess deficiency of selected nutrients, and to investigate the efficiency of the innovative food supplement prototype in improving nutritional status of elderly adults.
High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders
Very Long-chain Acyl-CoA Dehydrogenase DeficiencyTrifunctional Protein Deficiency2 moreThe study also determines if eating a diet higher in protein alters body composition, energy balance and metabolic control among patients with a long-chain fatty acid oxidation disorder.
Effects of a Pre-Workout on Performance, Perceptual Responses, Energy Feelings and Muscular Properties,...
Protein DeficiencyTraining Group4 moreThe investigation will be conducted as a double blinded, randomized, crossover within-participant comparison design with two 1-week intervention periods separated by 2-weeks for wash out, recovery, period.
Effects of a Recovery Supplement on Body Composition, Performance, Muscular Properties, and Wellbeing...
Protein DeficiencyTraining Group4 moreThe investigation will be conducted as a double blinded, randomized, parallel between treatment conditions comparison design with two different groups ingesting a different supplement each one.
Optimizing Protein Intake and Nitrogen Balance in Adult Critically Ill Patients
Protein DeficiencyThe purposes of the study are: To strictly ensure the appropriate level of protein and caloric provision in critical illness, according to the latest literature recommendation; To determine if an association exists between protein intake and nitrogen balance in the context of a nutrition with appropriate protein provision based on the latest literature recommendations, rather than in a standard diet with a caloric target weight-based. Creatinine clearance will also be evaluated to determine if there is any harmful effect to the kidney secondary to an elevated BUN. To determine if there is a difference in ICU mortality rate between the current nutrition standard and a hyperproteic nutrition protocol.
Fatty Acid Oxidation Defects and Insulin Sensitivity
Very Long-chain Acyl-CoA Dehydrogenase DeficiencyTrifunctional Protein Deficiency5 moreThe purpose of this study is to learn more about what causes insulin resistance. It has been suggested that proper breakdown of fat into energy (oxidation) in the body is important to allow insulin to keep blood sugar in the normal range. The investigators want to know if having one of the fatty acid oxidation disorders could have an influence on insulin action. Fatty acid oxidation disorders are genetic disorders that inhibit one of the enzymes that converts fat into energy. The investigators will study both normal healthy people and people with a long-chain fatty acid oxidation disorder.
EPA Supplementation in Cancer Patients Receiving Abdominal Radiotherapy -
Abdominal CancerRadiotherapy; Complications3 moreMalnutrition occurs frequently in patients with cancer during and after radiotherapy to the gastrointestinal (GI) area and can lead to negative outcomes. N-3 fatty acids from fish, especially eicosapentaenoic acid (EPA) may possess anticachectic properties. The aim of this study is to investigate the effect of two nutritional interventions; dietary counselling and an oral nutritional supplement (ONS) containing 2.2 g of the n-3 fatty acid EPA (Forticare®) or standard care, including dietary counselling and protein supplementation when needed.