General goals of the Tyrosinemia 2015 International Conference :
- To provide information on tyrosinemia;
- To identify medical innovations pertaining to tyrosinemia that were discovered over the last 50 years;
- To explore future avenues to manage and treat tyrosinemia.
Friday September 25th, 2015
| Title of the presentation/ Speakers |
Goals of the presentation At the end of the presentation, the participant will be able to better : |
| Tyrosinemia for Dummies Dr Grant Mitchell | 1. Explain the biochemical bases underlying tyrosinemia and related complications;2. Describe broadly the actual therapeutic approaches related to tyrosinemia : dietary, pharmaceutical and surgical approaches;
3. Examine the impacts of the genetic history of Saguenay-Lac St-Jean and of neonatal screening on the management of tyrosinemia in the province of Quebec. |
| Hepatology Part 1 : the heart of the disease Dr Ugur Halac an Dr Patrick J. McKiernan | 1. Identify the role of the liver and its evolution in patients treated with NTBC (that is, patients who did not receive a liver transplant);2. Describe the evolution of patients who received a liver transplant, more specifically their liver condition, their kidney condition and their overall quality of life;
3. Discuss the possibilities of healing tyrosinemia using cell therapy. |
| Neonatal screening Dr Yves Giguère | 1. Recognize the founding effect related to tyrosinemia type 1 in the Saguenay-Lac-Saint-Jean region;2. Summarize the evolution of tyrosinemia type 1 screening by the Program over the years;
3. Describe the main essential steps involved the screening program, from sample reception to the referencing of an affected newborn. |
| Medical imagery and visceral follow up Dre Josée Dubois | 1. Recognize the different radiological manifestations of tyrosinemia before NTBC.2. Describe the radiological abnormalities and the possible diagnoses in patients being treated.
3. Discuss the new liver imagery technologies. |
| Protocoles and follow up from a continent to another Dr Grant Mitchell and Dre Hélène Ogier | 1. Compare therapeutic approaches used in France and Quebec to manage tyrosinemia : NTBC, diet, biochemical and radiological follow up; 2. Enumerate clinical and paraclinical resources available in both areas;
3. Assess how these approaches can be applied to one’s clinical practice. |
| NTBC- Pharmacology and toxicity Suzanne Atkinson, pharmacist | 1. Describe knowledge related to nitisinone (NTBC) animal and human pharmacokinetic. 2. Describe the profile of the patient cohort being treated with nitisinone at CHU Sainte-Justine.
3. Discuss the actual and future challenges related to the medication circuit of nitisinone. |
| Nutrition –Past, present and future Manon Bouchard, dietician | 1. Recognize the adaptation of the nutritional follow up over the years;2. Identify the upcoming challenges related to the nutritional follow up of tyrosinemia type 1;
3. Recognize the impact of the food modifications for the patient and its family; 4. Familiarize themselves with new formula created with glycomacropeptids that are now used in the treatment of tyrosinemia. |
Saturday, September 26th 2015
| Hepatology Part 2 : Transplant and follow up Dr Fernando Alvarez and Dr Marc Bilodeau | 1. Identify the role of the liver and its evolution in patients treated with NTBC (that is, patients who did not receive a liver transplant);
2. Describe the evolution of patients who received a liver transplant, more specifically their liver condition, their kidney condition and their overall quality of life; 3. Discuss the possibilities of healing tyrosinemia using cell therapy. |
| Strenghts-Based nursing and the medical model : Two halves of the whole Laurie Gottlieb, RN, Ph.D. | 1. To discern how SBN redresses the shortcomings of the deficit, problem-based model and how it can be used to complement the Medical Model.2. To recognize SBN’s foundational principles and eight core values.
3. To clarify the benefits of SBN for patients/clients/families, healthcare professionals, and the healthcare system. |
| Psychology and development Dr Philippe Robaey and Dr Francjan Van Spronsen | 1. Discuss recent date pertaining to the psychomotor development of children affected with tyrosinemia type 1;2. Assess factors that can influence the psychomotor development of patients affected with tyrosinemia;
3. Explore how the development of affected patients can be optimized. |
| Fundamental Science Dr Robert Tanguay and Dr Markus Grompe | Dr Tanguay 1. To define the molecular basis of the pathological processes in HT1 with emphasis on liver cancer;2. To clarify current status on non-coding RNAs as regulatorsand predictors of the pathologies;
3. To examine miRNAs in the non-invasive diagnostic of liver cancer in the mouse HT1 model. Dr Grompe 1. To discern the role of hepatic stem/progenitor cells in liver injury repair; 2. To perceive about the current status of human clinical trials with hepatocyte transplantation; 3. To recognize the utility of mice with humanized liver in preclinical research. |
