39th ANNUAL B.C. NEUROSCIENCE ACADEMIC DAY Friday March 11, 2016 Paetzold Centre, Vancouver General Hospital “This event is an Accredited Group Learning Activity eligible for up to 5.5 Section 1 credits as defined by the Maintenance of Certification program of the Royal College of Physicians and Surgeons of Canada. This program has been reviewed and approved by UBC Division of CPD. Each physician should claim only those credits he/she actually spent in the activity.” Registration: 8:30 – 9:00 (coffee) Morning Session: Experts in their Field 9:00–9:30 Professor Blair Leavitt “Gene silencing therapy for Huntington’s disease” 9:30-10:00 Dr. Navraj S. Heran “The modern era of aneurysm care” 10:00–10:30 Dr. Julie Robillard “Online brain health resources: ethics needed” 10:30-11:00 Professor Haakon Nygaard “Drug repurposing to accelerate new Alzheimer’s disease therapeutics” 11:00-12:00 2016 Dr. P.D. MOYES LECTURE “Surgical management of thalamic and chiasmatic – hypothalamic tumours of childhood” Dr. Jefffrey Wisoff Professor and Director Division of Pediatric Neurosurgery New York University Langone Medical Center 12:00-13:00 BUFFET LUNCHEON at Medical Student Alumnae Centre with B.C. Neurological and Neurosurgical Nurses Association 13:30-14:30 10th annual Ken Berry Clinical Pathological Conference Discussant: Dr. Kathy Selby Moderator: Dr. Chris Dunham (case history attached) Afternoon Session: Resident, Fellow and Nursing Research Presentations 14:30 –16:00 “TBA 16:00 ADJOURNMENT EVALUATION OF 2016 MEETING: 0-unacceptable 1- poor 2- average 3- good 4-excellent 1. My satisfaction with the program content/relevance: 0 1 2 3 4 2. The speakers were: 0 1 2 3 4 3. The time for questions was: 0 1 2 3 4 4. The AV presentation was: 0 1 2 3 4 5. The food was: 0 1 2 3 4 6. Did you perceive the program to be free of commercial bias? Yes No 7. Were the stated learning objectives met? Yes No Course Objectives: Following these sessions, participants will be better able to understand: gene therapy for Huntington’s, the clinical management of cerebral aneurysms, the ethical dilemmas associated with internet health information, drug therapy for Alzheimer’s, thalamic and chiasmatichypothalamic tumors, and the latest clinical research in the neurosciences occurring in BC. Each lecture will include 25% time for questions. Comments (if required): SUGGESTED TOPICS FOR 2017 Meeting: _____________________________________ _____________________________________ BC Neuroscience Day 2016: 11th annual Ken Berry CPC Clinical summary: PJ currently is a 4 y/o girl that originally presented to Dr. E. Roland (Pediatric Neurology) at 2.5 y/o with features suspicious for a myopathy. PJ was the product of a normal pregnancy and weighed 7.5 lbs. at birth. Her mother noted leg weakness from 4 months onward. PJ started walking at 17 months. She was being seen by a physiotherapist, who eventually noted signs of developmental regression. Toilet training, previously achieved, became non-existent. PJ started to fall more frequently and exhibited poor protective reflexes. PJ’s mother noted that walking seemed to become more difficult at 3 y/o. Her ability to climb stairs/furniture was lost and she was not running or jumping. On exertion, PJ complained about leg aches; the latter would often keep her up at night. With minimal physical activity, she fatigued quickly and was breathless post activity, but there was no increased work of breathing per se. In sum, there was evidence of delayed gross motor and developmental milestones. Further history suggested that PJ had no cognitive, speech or fine motor issues. However, she did suffer from occasional headaches, constipation and sensitivity to loud noises. Family history revealed that PJ’s mother suffered from Graves’ disease, while her father had ulcerative colitis. A maternal sister had migraines. The maternal grandmother had diabetes and suffered a stroke at 58 y/o. Both the maternal grandmother and great grandmother were diagnosed with multiple sclerosis. On examination, PJ had normal vital signs. She was alert and cooperative. She had thin muscle bulk. PJ walked with a waddling gait and had hyperlordosis of the lumbar spine. There was no facial dysmorphism. She exhibited a positive Gowers’ sign. PJ was hypotonic and displayed proximal muscle weakness. The remainder of the neurologic and physical exam was normal. An extensive workup was performed. Radiologic investigations included a normal MRI of the head and spine, with the exception of “fatty infiltration” noted in the paraspinal muscles (T12 and inferior) and in the glutei. Pelvic x-ray was normal. Electrophysiology revealed a normal EEG, EMG and NCS. Genetic testing revealed a normal chromosomal microarray and SMN analysis was normal. Blood work included: CBC with differential, electrolytes, phosphorus, magnesium, calcium, transaminases, CPK, LDH, lactate, acylcarnitine profile, TSH/T4, urine purine/pyrimidines, plasma amino acids, and urine organic acids; no abnormalities were detected. Both Cardiology (Dr. M. Hosking) and Biochemical Diseases (Dr. S. Stockler-Ipsiroglu) were consulted. Cardiac exam, ECG and echocardiogram were all normal, suggesting the absence of a cardiomyopathy. Metabolic assessment did not reveal evidence of a metabolic disorder. A muscle biopsy of the left vastus lateralis was subsequently performed.