Spinal epidural arteriovenous fistula with nerve root enhancement mimicking myeloradiculitis: a case report.

BACKGROUND: Gadolinium enhancement of spinal nerve roots on magnetic resonance imaging (MRI) has rarely been reported in spinal dural arteriovenous fistula (SDAVF). Nerve root enhancement and cerebrospinal fluid (CSF) pleocytosis can be deceptive and lead to a misdiagnosis of myeloradiculitis. We report a patient who was initially diagnosed with neurosarcoid myeloradiculitis due to spinal nerve root enhancement, mildly inflammatory cerebrospinal fluid, and pulmonary granulomas, who ultimately was found to have an extensive symptomatic SDAVF. CASE PRESENTATION: A 52-year-old woman presented with a longitudinally extensive spinal cord lesion with associated gadolinium enhancement of the cord and cauda equina nerve roots, and mild lymphocytic pleocytosis. Pulmonary lymph node biopsy revealed non-caseating granulomas and neurosarcoid myeloradiculitis was suspected. She had rapid and profound clinical deterioration after a single dose of steroids. Further work-up with spinal angiography revealed a thoracic SDAVF, which was surgically ligated leading to clinical improvement. CONCLUSIONS: This case highlights an unexpected presentation of SDAVF with nerve root enhancement and concurrent pulmonary non-caseating granulomas, leading to an initial misdiagnosis with neurosarcoidosis. Nerve root enhancement has only rarely been described in cases of SDAVF; however, as this case highlights, it is an important consideration in the differential diagnosis of non-inflammatory causes of longitudinally extensive myeloradiculopathy with nerve root enhancement. This point is highly salient due to the importance of avoiding misdiagnosis of SDAVF, as interventions such as steroids or epidural injections used to treat inflammatory or infiltrative mimics may worsen symptoms in SDAVF. We review the presentation, diagnosis, and management of SDAVF as well as a proposed diagnostic approach to differentiating SDAVF from inflammatory myeloradiculitis.

Infobuttons for Genomic Medicine: Requirements and Barriers.

OBJECTIVES: The study aimed to understand potential barriers to the adoption of health information technology projects that are released as free and open source software (FOSS). METHODS: We conducted a survey of research consortia participants engaged in genomic medicine implementation to assess perceived institutional barriers to the adoption of three systems: ClinGen electronic health record (EHR) Toolkit, DocUBuild, and MyResults.org. The survey included eight barriers from the Consolidated Framework for Implementation Research (CFIR), with additional barriers identified from a qualitative analysis of open-ended responses. RESULTS: We analyzed responses from 24 research consortia participants from 18 institutions. In total, 14 categories of perceived barriers were evaluated, which were consistent with other observed barriers to FOSS adoption. The most frequent perceived barriers included lack of adaptability of the system, lack of institutional priority to implement, lack of trialability, lack of advantage of alternative systems, and complexity. CONCLUSION: In addition to understanding potential barriers, we recommend some strategies to address them (where possible), including considerations for genomic medicine. Overall, FOSS developers need to ensure systems are easy to trial and implement and need to clearly articulate benefits of their systems, especially when alternatives exist. Institutional champions will remain a critical component to prioritizing genomic medicine projects.

Physicians' perspectives on receiving unsolicited genomic results.

PURPOSE: Physicians increasingly receive genomic test results they did not order, which we term "unsolicited genomic results" (UGRs). We asked physicians how they think such results will affect them and their patients. METHODS: Semistructured interviews were conducted with adult and pediatric primary care and subspecialty physicians at four sites affiliated with a large-scale return-of-results project led by the Electronic Medical Records and Genomics (eMERGE) Network. Twenty-five physicians addressed UGRs and (1) perceived need for actionability, (2) impact on patients, (3) health care workflow, (4) return of results process, and (5) responsibility for results. RESULTS: Physicians prioritize actionability of UGRs and the need for clear, evidence-based "paths" for action coupled with clinical decision support (CDS). They identified potential harms to patients including anxiety, false reassurance, and clinical disutility. Clinicians worried about anticipated workflow issues including responding to UGRs and unreimbursed time. They disagreed about who was responsible for responding to UGRs. CONCLUSION: The prospect of receiving UGRs for otherwise healthy patients raises important concerns for physicians. Their responses informed development of an in-depth survey for physicians following return of UGRs. Strategic workflow integration of UGRs will likely be necessary to empower physicians to serve their patients effectively.