Parker Emrich ’13, Dr. James Culbertson Fellow in Neurology and Medicine

This week was busier than the last. On Monday, I went to a Clinical Pathology Conference (CPC), which is an explorative look at the possible diagnoses that would have fit a particularly challenging or interesting clinical case. A variety of possible diagnoses were discussed and each was weighed pros versus cons in terms of its likelihood as an explanation for the patient’s symptoms. The final diagnosis was CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) which I knew next to nothing about at the time. This prompted me to do a little research on it. Apparently it is theorized to be caused by mutations on the Notch 3 gene on chromosome 19 and is a common form of hereditary stroke disorder. The primary pathology of CADASIL is progressive degeneration of smooth muscle cells in blood vessels caused by the accumulation of Notch 3 at the cytoplasmic membrane of vascular smooth muscle cells. Besides the lunch seminar, Monday and Tuesday were spent reading the articles and preparing for our group discussion on Tuesday afternoon.

The readings were centered on the pathphysiology and outcomes and the possible links with alpha-synuclein degenerative disorders, of REM sleep behavior disorder (RBD). RBD is primarily about the presence of dream enactment behavior during the sleep cycle. Dream enactment behavior is caused when the patient’s brain fails to properly, or completely,  implement the skeletal muscle atonia that is an important part of REM sleep. Because of this lack of atonia, patients are still partially or fully capable of motion and often end up hurting themselves (falling out of bed or hurting their limbs) or their sleeping partners (kicking or punching them accidentally). Typically, patients with RBD report being able to remember their dreams in vivid detail later and their dream mentatin usually contains a theme of being chased or protecting themselves or loved ones from some attacker or threat. I think my favorite part is the fact that usually the sleeping partner can speak, with remarkable accuracy,  about the subject matter of the dream because of how clear the actions of the patient are when they are enacting them.

Wednesday was spent scoring more of the most recent CAP study we are performing, either alone or with the group on occasion. The lunch seminar was education about the healthcare deficits that exist in our present system for American Indians, Native Americans and Alaskan Natives. Both due to underfunding and some unwillingness amongst the population to use the federally provided healthcare for these groups, they have significantly poorer health outcomes in an overall view.  Thursday and Friday were spent working on the Gold Standard of CAP scoring and a variety of the Mayo Clinic mandated training modules. The Gold Standard of CAP scoring is Dr. St Louis’ is about scoring the prechosen segments of various patients’ sleep studies and then comparing my scoring to the composite scoring of Dr. St Louis and two other colleagues of his. The comparison is intended to make sure that everyone here at the Sleep Center is scoring CAP with a decent amount of reliability between our scorings. After I finished the Gold Standard on Thursday, I set to work completely all of the Mayo training modules which took me a lot less time than the rest of my compatriots who had been working on it all day. I think that a good portion of the reason I finished the IRB training modules so quickly was due to my previous experience with the ethics and standards of ethical practice for research with human subjects that was thoroughly taught in a few of my psychology courses at Cornell, including Research Methods and Counseling and Clinical Psychotherapy to name a few. While we did go to the lunch seminar on Friday, it was a bit too highly technical for me to catch all of it. The main subject matter was taking a close in-depth look at the neuroimmunological  causes and effects of Neuromyelitis Optica (NMO). It seemed like it would have been interesting if I had a background in the relevant literature but sadly, I did not so I listened intently and picked up as much as I could. What I did pick up was mainly related to the possibility that NMO worked partially through causing demyelination of the neurons in certain portions of the brain.