Spinocerebellar ataxia type 3 (SCA3), caused by a CAG repeat expansion in the ataxin-3 gene (ATXN3), is characterized by neuronal polyglutamine (polyQ) ATXN3 protein aggregates. Although there is no cure for SCA3, gene-silencing approaches to reduce toxic polyQ ATXN3 showed promise in preclinical models. However, a major limitation in translating putative treatments for this rare disease to the clinic is the lack of pharmacodynamic markers for use in clinical trials. Here, we developed an immunoassay that readily detects polyQ ATXN3 proteins in human biological fluids and discriminates patients with SCA3 from healthy controls and individuals with other ataxias. We show that polyQ ATXN3 serves as a marker of target engagement in human fibroblasts, which may bode well for its use in clinical trials. Last, we identified a single-nucleotide polymorphism that strongly associates with the expanded allele, thus providing an exciting drug target to abrogate detrimental events initiated by mutant ATXN3. Gene-silencing strategies for several repeat diseases are well under way, and our results are expected to improve clinical trial preparedness for SCA3 therapies.
Introduction We assessed patients’ perceptions of physician empathy during telemedicine consultations as compared to in-person consultations during clinical encounters for acute stroke. Methods This prospective cohort study was undertaken at a comprehensive stroke centre hub in collaboration with a distant community hospital spoke site. Eligible participants presented to hub or spoke emergency departments with suspected acute stroke within three hours of symptom onset. Participants were evaluated at the hub site in person or at the remote site via telemedicine by the same group of neurologists. Following acute care decisions, single-visit data including participant-reported assessments of physician empathy were collected within 24 h. The primary outcome was the Consultation and Relational Empathy score. The secondary outcome for the telemedicine cohort was the Telemedicine Patient Satisfaction Measure score. Results Between 31 May 2013–13 March 2019, 70 patients completed the study. Fifty patients were seen by telemedicine and 20 patients were seen in person. Median Consultation and Relational Empathy scores (with a possible score of 10–50) were 49 (range 27–50) for telemedicine and 45 (range 26–50) for in-person consultations (Wilcoxon rank sum p = 0.18). Each item of the Consultation and Relational Empathy questionnaire was rated very good or excellent by at least 87% of participants in the telemedicine group. The median Telemedicine Patient Satisfaction Measure score was 54 (range 12–60), with each item rated agree or strongly agree by at least 84% of participants. Discussion We found no difference between telemedicine and in-person visits in patient perception of physician empathy in acute stroke care. Therefore, we conclude that empathy can be conveyed by facial expression, voice and attentiveness in a telemedicine encounter and, in the setting of acute stroke care, does not require physical touch or proximity.
On March 11, 2020, the World Health Organization declared the coronavirus disease 2019 (COVID-19) a pandemic, and in the weeks following, public health organizations, medical associations, and governing bodies throughout the world recommended limiting contact with others to "flatten the curve" of COVID-19. Although both ischemic and hemorrhagic strokes have been reported with COVID-19, there has been anecdotal suggestion of an overall decrease in stroke admissions. To date, the effects of any pandemic on telestroke service lines have not been described. The purpose of this cross-sectional analysis of telestroke activations in the 30 days before and after the declaration of the COVID-19 pandemic is to describe the difference in case volumes of telestroke activations, the characteristics of patients, and treatment recommendations between the 2 time frames. We found a 50.0% reduction in total telestroke activations between the predeclaration group (142 patients) and the postdeclaration group (71 patients). There were no statistically significant differences in age (P¼.95), sex (P¼.10), diagnosis (P¼.26), or regional variations (P¼.08) in activation volumes. The percentage of patients for whom we recommended urgent stroke treatment with intravenous alteplase, mechanical thrombectomy, or both decreased from 44.4% (28 of 63) to 33.3% (11 of 33). The reasons for the sunstantial decrease in telestroke activations and urgent stroke treatment recommendations are likely multifactorial but nevertheless underscore the importance of continued public health measures to encourage patients and families to seek emergency medical care at the time of symptom onset.
tized during the global crisis. It will also guide public health guidelines for at-risk populations to reduce risks of complications from such comorbidities.
Objective To assess the introduction of telemedicine as an alternative to the traditional face-to-face encounters with Vascular Surgery patients in the era of the Coronavirus Disease 2019 (COVID-19) pandemic. Methods Retrospective review of prospectively collected data on face-to-face and telemedicine interactions at a multi-site health care system from January to August 2020 in Vascular Surgery patients during the COVID-19 pandemic. The end point is direct patient satisfaction comparison between face-to-face and telemedicine encounters/interactions prior and during the pandemic. Results There were 6,262 patient encounters from 01/01/2020 to 08/06/2020. Of the total encounters, 790 (12.6%) were via telemedicine, which were initiated on 03/11/2020 after the World Health Organization’s (WHO) declaration of the COVID-19 pandemic. These telemedicine encounters were readily adopted and embraced by both the providers and patients and remain popular as an option to patients for all types of visits. 78.7% of patients rated their overall health care experience during face-to-face encounters as “very good” and 80.6% of patients rated their health care experience during telemedicine encounters as “very good” (p=0.78). Conclusion Although the COVID-19 pandemic has produced unprecedented consequences to the practice of Medicine and specifically of Vascular Surgery, our multi-site health care system has been able to swiftly adapt and adopt telemedicine technologies for the care of our complex patients. Most importantly, the high quality of patient reported satisfaction and health care experience has remained unchanged.
The size of anterior infarction, presence of blood products within the infarct bed, and especially LN predicted PSS.
Background Rapid dissemination and coordination of clinical and imaging data among multidisciplinary team members are essential for optimal acute stroke care. Aim To characterize the feasibility and utility of the Synapse Emergency Room mobile (Synapse ERm) informatics system. Methods We implemented the Synapse ERm system for integration of clinical data, computerized tomography, magnetic resonance, and catheter angiographic imaging, and real-time stroke team communications, in consecutive acute neurovascular patients at a Comprehensive Stroke Center. Results From May 2014 to October 2014, the Synapse ERm application was used by 33 stroke team members in 84 Code Stroke alerts. Patient age was 69.6 (±17.1), with 41.5% female. Final diagnosis was: ischemic stroke 64.6%, transient ischemic attack 7.3%, intracerebral hemorrhage 6.1%, and cerebrovascular-mimic 22.0%. Each patient Synapse ERm record was viewed by a median of 10 (interquartile range 6-18) times by a median of 3 (interquartile range 2-4) team members. The most used feature was computerized tomography, magnetic resonance, and catheter angiography image display. In-app tweet team, communications were sent by median 1 (interquartile range 0-1, range 0-13) users per case and viewed by median 1 (interquartile range 0-3, range 0-44) team members. Use of the system was associated with rapid treatment times, faster than national guidelines, including median door-to-needle 51.0 min (interquartile range 40.5-69.5) and median door-to-groin 94.5 min (interquartile range 85.5-121.3). In user surveys, the mobile information platform was judged easy to employ in 91% (95% confidence interval 65%-99%) of uses and of added help in stroke management in 50% (95% confidence interval 22%-78%). Conclusion The Synapse ERm mobile platform for stroke team distribution and integration of clinical and imaging data was feasible to implement, showed high ease of use, and moderate perceived added utility in therapeutic management.
A healthy 43-year-old woman presented with bandlike abdominal pressure and urinary frequency. Neurologic examination was normal. Chest CT showed mediastinal adenopathy with correlated FDG-PET hypermetabolism; biopsy demonstrated noncaseating granuloma consistent with sarcoidosis. Spinal involvement was suspected because of FDG-PET activity at T9 -T12 (figure, A and C), and confirmed with CSF lymphocytic pleocytosis (26 cells/L). Gadolinium-enhanced MRI of the thoracolumbar spinal cord was normal (figure, B and D; T2 not shown); brain MRI was not obtained. The preferred imaging modality for neurosarcoidosis is gadolinium-enhanced MRI.1 The FDG-PET signal without MRI correlate in this case suggests that FDG-PET may provide a more sensitive early test for neurosarcoidosis.
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