Citations

Background Sudden cardiac arrest is the leading mode of death in the United States. Epilepsy affects 1% of Americans; yet epidemiological data show a prevalence of 4% in cases of sudden cardiac arrest. Sudden unexpected death in epilepsy (SUDEP) may share features with sudden cardiac arrest. The objective of this study was to report autopsy and genomic findings in a large cohort of SUDEP cases. Methods and Results Mayo Clinic Sudden Death Registry containing cases (ages 0–90 years) of sudden unexpected and unexplained deaths 1960 to present was queried. Exome sequencing performed on decedent cases. From 13 687 cases of sudden death, 656 (4.8%) had a history of seizures, including 368 confirmed by electroencephalography, 96 classified as SUDEP, 58 as non‐SUDEP, and 214 as unknown (insufficient records). Mean age of death in SUDEP was 37 (±19.7) years; 56 (58.3%) were male; 65% of deaths occurred at night; 54% were found in bed; and 80.6% were prone. Autopsies were obtained in 83 cases; bystander coronary artery disease was frequently reported as cause of death; nonspecific fibrosis was seen in 32.6% of cases, in structurally normal hearts. There were 4 cases of Dravet syndrome with pathogenic variants in SCN1A gene. Using whole exome sequencing in 11 cases, 18 ultrarare nonsynonymous variants were identified in 6 cases including CACNB2, RYR2, CLNB, CACNA1H, and CLCN2 . Conclusions This study examined one of the largest single‐center US series of SUDEP cases. Several cases were reclassified as SUDEP, 15% had an ECG when alive, and 11 (11.4%) had blood for whole exome sequencing analysis. The most frequent antemortem genetic finding was pathogenic variants in SCN1A ; postmortem whole exome sequencing identified 18 ultrarare variants.

Near‐peer teachers continue to be a significant driving force behind curricular changes that provide anatomy instruction to meet the needs of students in the current learning environment. Near‐peer teaching assistants (TAs) are important contributors in the facilitation of Mayo Clinic School of Medicine, anatomy course. The team‐based design of this course incorporates various approaches to team oriented activities, including introduction to radiology and ultrasound education and whole body dissections. TAs are equally involved in delivery of briefing sessions, prosections, guidance of student dissections, and review sessions. While students acknowledge educational benefits of learning anatomy through dissection, many still experience challenges in effectively using combined classical resources such as dissection manuals, textbooks, atlases, and various computer‐assisted tools. To enhance student competency in dissection as well as to maintain curricular alignment between clinically oriented course content and dissection goals often different than what is presented in dissection manuals or commercially available videos, TAs dissected a cadaver and created short videos. Videos outlined necessary steps for the assigned dissection, identified challenging aspects of dissection procedure, and provided review of clinically relevant anatomic structures. Videos were filmed daily by TAs using commercially available iPads or iPhones and edited using iMovie software. All videos were uploaded to Blackboard curriculum management system the day before dissection and remained accessible to students throughout the course. The objective of this study was to determine medical student satisfaction and utilization of near‐peer created teaching videos for preparation and guidance of laboratory dissection. A total of 28 videos were created that ran from approximately 2 to 13 min in duration. Viewing data for the videos was tracked on the server and a survey was distributed to the students after the final examination (IRB protocol #17‐009090). Response rate was 91% (48 of 53 students responded to the survey). The survey used a five‐point Likert scale in which 1 = strongly disagree and 5 = strongly agree. In general, students found the videos useful in their preparation for laboratory dissection. They agreed that they frequently used the videos to prepare for the assigned dissection (4.74) and they felt that videos improved their efficiency (4.73) and confidence (4.45) in the laboratory. Additionally, 47% of students ranked the videos as their primary resource for dissection preparation. Near‐peer created videos provide an inexpensive and effective alternative to commercially available products. In addition, these videos allow facilitators to relate course specific material with dissection goals, advance self‐directed learning, and help students overcome the challenge of potential cognitive overload from the need to consult too many references within a short timeframe of the dissection laboratory. This abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal .

Background: TDP-43 has been shown to be strongly associated with memory loss, smaller hippocampal volumes, and faster rates of hippocampal atrophy in Alzheimer’s disease (AD) patients with an amnestic presentation. Whether TDP-43 has any clinical or anatomical associations in AD patients with non-amnestic phenotype is unknown. Objective: To determine whether TDP-43 plays a significant role in the clinic-anatomic features of non-amnestic AD. Methods: All cases with pathologically confirmed intermediate-high probability AD from 1996–2012 were identified and retrospectively sub-classified into amnestic versus non-amnestic dementia at the time of presentation. Neurofibrillary tangle counts were performed in those with a non-amnestic presentation using thioflavin-S microscopy in the hippocampus and three neocortical regions, and all cases were subtyped into hippocampal-sparing, limbic-predominant, and typical AD pathology. TDP-43 immunoreactivity was used to assess for the presence of TDP-43. Statistical analyses helped determine whether pathologic subtype or TDP-43 was more strongly associated with clinico-imaging features. Results: Out of 172 pathologically confirmed AD cases, 36 (19%) were classified as non-amnestic. Twenty-five of these 36 (69%) had typical pathology, 0 limbic-predominant pathology, and 11 (31%) hippocampal-sparing pathology. Eleven (44%) of the 25 cases with typical pathology were TDP-43+. Of the 11 cases with hippocampal-sparing pathology, 4 (36%) were TDP-43+. There were no differences in demographic, clinical, or neuroimaging features in those with TDP-43 versus those without except for older age at onset ( p = 0.02) and age at death ( p = 0.02) in those with TDP-43. AD pathological subtype accounted for slightly more of the variances in the neocortex than TDP-43. Conclusion: In non-amnestic AD, we find little evidence that clinical or anatomical features of the disease are related to TDP-43.