DNA methylome study of human cerebellar tissues identified genes and pathways possibly involved in essential tremor.

BACKGROUND: Essential tremor (ET) is a neurological syndrome of unknown origin with poorly understood etiology and pathogenesis. It is suggested that the cerebellum and its tracts may be involved in the pathophysiology of ET. DNA methylome interrogation of cerebellar tissue may help shine some light on the understanding of the mechanism of the development of ET. Our study used postmortem human cerebellum tissue samples collected from 12 ET patients and 11 matched non-ET controls for DNA methylome study to identify differentially methylated genes in ET. RESULTS: Using Nugen's Ovation reduced representation bisulfite sequencing (RRBS), we identified 753 genes encompassing 938 CpG sites with significant differences in DNA methylation between the ET and the control group. Identified genes were further analyzed with Ingenuity Pathway Analysis (IPA) by which we identified certain significant pathways, upstream regulators, diseases and functions, and networks associated with ET. CONCLUSIONS: Our study provides evidence that there are significant differences in DNA methylation patterns between the ET and control samples, suggesting that the methylation alteration of certain genes in the cerebellum may be associated with ET pathogenesis. The identified genes allude to the GABAergic hypothesis which supports the notation that ET is a neurodegenerative disease, particularly involving the cerebellum.

Factors influencing the adoption of telemedicine for treatment of military veterans with post-traumatic stress disorder.

BACKGROUND: Military veterans returning from a combat zone often face mental health challenges as a result of traumatic experiences. The veteran in the United States has been underdiagnosed and underserved. Since its advancement in the 1990s, telemedicine has become a more prevalent means of delivering services for post-traumatic stress disorder among veterans in the United States, but its adoption is not ubiquitous. OBJECTIVE: To clarify the association of telemedicine and the treatment of veterans with post-traumatic stress disorder through identification of facilitators and barriers to the adoption of the modality. METHODS: Reviewers analysed articles from CINAHL and PubMed databases, using relative key words, selecting the 28 most germane to the study objective. RESULTS: The most common adoption facilitators were: improving access to rural populations of veterans (22%), effective treatment outcomes (16%), and decreased costs related to care (13%). The most prevalent barriers were: veterans lacking access to necessary modalities (25%), availability of physicians competent in post-traumatic stress disorder treatment (20%), and complications with technology (20%). Five themes surfaced for facilitators: accessibility, effectiveness, cost reduction, positive patient perception, and supportive community; and 5 themes for barriers: access to technology, technical complications, physician availability, negative patient perception, and uninformed patients. CONCLUSION: This literature review identifies cost and outcomes-effectiveness. The association of telemedicine with the treatment of veterans with post-traumatic stress disorder is feasible, beneficial and effective.

Burn Injuries in Patients with Paralysis: A National Perspective on Injury Patterns and Outcomes.

The affect of paralysis-related comorbidities on outcomes in burn-injured patients has not been explored. We hypothesize that comorbid paralysis is associated with increased morbidity in this population. All burned patients with prior diagnoses of paralysis were identified from the National Burn Repository (Version 8.0). One-to-one matching of nonparalyzed burn-injured patients was performed, and nonparametric analysis was used to compare the groups. We identified 432 paralyzed patients, who were predominantly male (70.6%) and Caucasian (57.6%), with an average age of 40.8 ± 19.0 years. The identified level of disability was distinguished as paraplegia (59.5%), hemiplegia (16.9%), quadriplegia (13.9%), or other (9.8%). A majority of injuries occurred in the home (75.2%), primarily due to scalds (48.1%). More than half sustained small injuries with affected total body surface area <5%. Lower extremities were frequently injured (72.2%), with 41.0% affecting exclusively the lower extremities. While the paralysis population had significantly longer hospital lengths of stay, nonparalyzed patients had longer intensive care unit length of stay and ventilator days (P < .001). There was no statistically significant difference in mortality rate between paralyzed and nonparalyzed patients (4.4% vs 4.9%, P = .550). Patients with paralysis are susceptible to small scald injuries in the home. Comorbid paralysis places patients at risk for longer, more indolent hospital stays, when compared with matched nonparalyzed patients with more critical illness. Further investigation is needed regarding the pathophysiologic mechanisms predisposing paralyzed burn patients to increased morbidity.