(version 2014-06-03) X ADVANCED COURSE ON DIAGNOSIS AND TREATMENT OF METABOLIC DISEASES Porto Alegre – August 3-8, 2014 PROGRAM AT A GLANCE - (Lectures / Practical Sessions / Social Program) MORNING PROGRAM 8:30-10:00 Sunday August 3 Monday August 4 Tuesday August 5 Wednesday August 6 Thursday August 7 Friday August 8 Clinical Approach to the Diagnosis of IEM Part I Intermediate Metabolism G Vockley Approach to Selected Problems: Hyperammonemia & Urea Cycle Defects (Diagnosis & Treatment) G Vockley Mitochondrial Disorders and Lactic Acidosis: Clinical Suspicion, Laboratory Diagnosis and Management G Vockley Practical Session III Interview with LSD patients to discuss diagnosis and management R Giugliani & Faculty Perspectives for Screening and Diagnosis of Inborn Errors of Intermediate Metabolism G Vockley Interactive case discussion Interactive case discussion IEMs with Dismorphic Features C Lourenço Coffee break (10:00 – 10:30) Screening for LSDs R Giugliani 10:30-12:00 OFFICIAL GROUP PICTURE Laboratory Diagnosis of IEM Part I – Amino acids, Organic Acidurias, FAOD M Wajner/ A Sitta / C Vargas Interactive case discussion Hypoglicemia (Diagnosis & Treatment) C Souza Disorders of Carbohydrate Metabolism T Cox Therapeutic Approaches to Lysosomal Disorders T Cox Is Gene Therapy for IEM coming? G Baldo Practical Session IV Interview with IEM patients to discuss diagnosis and management (cont.) I Schwartz & Faculty Highlights on Novel Therapies For Lysosomal Diseases T Cox Next Generation Sequencing and the Diagnosis of IEM U Matte Evaluation & Closing Remarks R Giugliani Lunch AFTERNOON & EVENING PROGRAM 14:00-15:30 Sunday August 3 Monday August 4 Tuesday August 5 Clinical Approach to the Diag of IEM Part II - Lysosomal Disorders T Cox White Matter Disease TBD Interactive case discussion Neuroimaging in Metabolic Diseases L Vedolin Lunch Wednesday August 6 Thursday August 7 Practical Session I: Laboratory Diagnosis of Intermediate Metabolism Disorders C Vargas & A Sitta Practical Session VI: Case presentations by the students, with discussion and comments by the faculty members C Lourenço & All Practical Session II Laboratory Diagnosis of Lysosomal Disorders M Burin & K Michelin & F Timm Practical Session VI (cont.): Case presentations by the students, with discussion and comments by the faculty members C Lourenço & All Coffee break (15:30-16:00) Laboratory Diagnosis of IEM Part II – Lysosomal Disorders & other selected metabolic diseases M Burin 16:00-17:30 Arrivals 18:30-22:00 Welcome Cocktail Course introduction R Giugliani Opening remarks from the international invited speakers Pre-course evaluation Dinner Molecular Diagnosis in IEM U Matte Seizures and IEM J Saute & F Vairo Porphyrias and Ferritinopathies T Cox Prenatal Diagnosis MT Sanseverino 20:00 – 23:00 Free evening Integration Dinner (Galpão Crioulo) 20:00-23:00 Free evening Official Dinner (Venue TBA) Friday August 8
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