Citations

OBJECTIVESpinal epidural arteriovenous fistulas (SEDAVFs) constitute a rare but treatable cause of vascular myelopathy and are a different subtype from the more common Type I spinal dural AVFs. The purpose of this study was to review a consecutive series of SEDAVFs from a single institution and report on the clinical presentations, functional status, and treatment outcomes.METHODSThe authors identified all SEDAVFs treated at their institution from 2005 to 2015. SEDAVFs were defined as spinal AVFs in which the fistulous connection occurred in the epidural venous plexus. The clinical presentation, functional status, immediate treatment outcomes, and long-term neurological outcomes were analyzed.RESULTSTwenty-four patients with SEDAVFs were included in this study. The patients' mean age at presentation was 66.9 years. The most common presenting symptoms were pain and numbness (22 patients, 91.7%), followed by lower-extremity weakness (21 patients, 87.5%). The mean duration of symptoms prior to diagnosis was 11.8 months. Eighteen patients (75.0%) were treated with endovascular therapy alone, 4 (16.7) with surgery, and 2 (8.3%) with a combination of techniques. There was 1 major treatment-related complication (4.2%). Fifteen patients (62.5%) had improvement in disability, and 12 patients (54.5%) had improvement in sensory symptoms.CONCLUSIONSSEDAVFs often present with lower-extremity motor dysfunction and sensory symptoms. With the availability of newer liquid embolic agents, these lesions can be effectively treated with endovascular techniques. Surgery is also effective at treating these lesions, especially in situations where endovascular embolization fails or is not safe and in patients presenting with mass effect from compressive varices.

Background: The association of central arterial stiffness and pressure pulsatility with mild cognitive impairment (MCI) and dementia is not well characterized in the population-based setting. Objective: The aim of this study was to quantify the cross-sectional association of arterial stiffness and pressure pulsatility with MCI and dementia among 4,461 older white and black adults from the population-based Atherosclerosis Risk in Communities Study-Neurocognitive Study. Methods: We used race-stratified multinomial logistic regression to evaluate associations of percentile cut points of carotid-femoral pulse wave velocity, central systolic blood pressure, central pulse pressure, and pulse pressure amplification with MCI and dementia versus no cognitive impairment. Results: Among whites, those with carotid-femoral pulse wave velocity or central systolic blood pressure ≥75th percentile had a higher prevalence of MCI compared to participants <75th percentile (conditional odds ratio (OR); 95% confidence interval (CI): 1.27 (1.02, 1.56) and 1.28 (1.04, 1.57), respectively) and those with central pulse pressure ≥75th percentile had a higher prevalence of MCI (OR 1.27 (95% CI: 1.03, 1.58)) and dementia (OR 1.76 (95% CI: 1.06, 2.92) compared to participants <75th percentile. Also among whites, those with pulse pressure amplification ≤25th percentile had a higher prevalence of dementia compared to participants >25th percentile (OR 1.65; (95% CI: 1.01, 2.70). Weaker associations were seen among black participants. Conclusion: Higher arterial stiffness and pulsatility were associated with MCI and dementia in white participants. Longitudinal characterization of the observed associations is warranted to assess whether arterial stiffness and pressure pulsatility predict MCI and dementia among older adults.

Abstract BACKGROUND: Intraneural perineuriomas are rare, benign lesions produced by the neoplastic proliferation of perineurial cells. They typically present in adolescents and affect nerves of the limbs. In our experience, we have not encountered a single case of classic intraneural perineurioma at an intradural location. OBJECTIVE: To determine whether intraneural perineuriomas could occur intradurally, given the prevalence of intradural nerve sheath tumors, and explain our findings with an anatomic perspective. METHODS: We retrospectively reviewed the high-resolution magnetic resonance images of 56 patients from an institutional registry of patients with intraneural perineurioma. All cases were analyzed for signs of proximal extension toward spinal nerves, roots, and spinal cord. A literature review was performed. The clinical, radiological, and histopathological features of potential intradural lesions were critically appraised against strict criteria for a diagnosis of classic intraneural perineurioma. RESULTS: Fifteen of 56 (27%) patients with intraneural perineurioma had a proximal localization in the lumbosacral or brachial plexus. Not a single case occurred proximal to the dorsal root ganglia (DRG). One case of trigeminal intraneural perineurioma occurred distal to the gasserian ganglion. A literature review did not reveal any convincing cases of classic intraneural perineuriomas occurring in an intraspinal intradural location and revealed only 1 possible case in an intracranial intradural location. CONCLUSION: Based on our study, the occurrence of classic intraneural perineuriomas intradurally is exceedingly rare, if at all present. This may be related to the paucity of perineurial cells at the nerve root level and reciprocal interactions between neuroglial cells at the central-to-peripheral transition zones.

Numerous pharmacogenetic clinical guidelines and recommendations have been published, but barriers have hindered the clinical implementation of pharmacogenetics. The Translational Pharmacogenetics Program (TPP) of the National Institutes of Health (NIH) Pharmacogenomics Research Network was established in 2011 to catalog and contribute to the development of pharmacogenetic implementations at eight US healthcare systems, with the goal to disseminate real‐world solutions for the barriers to clinical pharmacogenetic implementation. The TPP collected and normalized pharmacogenetic implementation metrics through June 2015, including gene–drug pairs implemented, interpretations of alleles and diplotypes, numbers of tests performed and actionable results, and workflow diagrams. TPP participant institutions developed diverse solutions to overcome many barriers, but the use of Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines provided some consistency among the institutions. The TPP also collected some pharmacogenetic implementation outcomes (scientific, educational, financial, and informatics), which may inform healthcare systems seeking to implement their own pharmacogenetic testing programs.

Background: Nerve involvement developed in a patient with granuloma annulare, as evidenced by a perineural infiltrate of histiocytes in the dermis. The histopathologic pattern was suggestive of leprosy. No mycobacteria were observed, and neurologic testing was normal. Objective: To determine whether inflammation of the nerves or perineural tissue is common in granuloma annulare, we studied the cutaneous nerves in skin biopsy specimens from 14 patients with granuloma annulare. Methods: Sections were stained with hematoxylin-eosin to highlight inflammatory cells and with S-100 to identify cutaneous nerves. Results: No inflammation around nerves was found in 12 specimens, abutting granulomatous inflammation was found in 1 specimen, and enveloping granulomatous inflammation was found in 1 specimen. No nerves were infiltrated by inflammatory cells. Conclusion: Perineural granulomatous inflammation resembling the perineural infiltrate of leprosy appears to be an uncommon characteristic of granuloma annulare. Clinical correlation and acid-fast stains can assist in establishing the correct diagnosis. Contexte: Une atteinte nerveuse est apparue chez un patient atteint de granulome annulaire, comme en témoignait un infiltrat périneural d'histiocytes dans le derme. Les signes histopathologiques étaient évocateurs de la lèpre, mais aucune mycobactérie n'a été observée, et l'examen neurologique était normal. Objectif: L'étude visait à déterminer si l'inflammation des nerfs ou du tissu périneural est fréquente dans le granulome annulaire; pour ce faire, nous avons examiné les nerfs cutanés dans des prélèvements biopsiques de la peau, effectués sur 14 patients atteints de granulome annulaire. Méthodes: Les coupes ont été colorées à l'hématoxyline-éosine pour mettre en évidence des cellules inflammatoires, ainsi qu'au S-100 pour repérer les nerfs cutanés. Résultats: Aucune inflammation autour des nerfs n'a été observée sur 12 prélèvements, mais il y avait présence d'inflammation granulomateuse contiguë sur un prélèvement et d'inflammation granulomateuse enveloppante, sur un autre prélèvement. Les nerfs n'ont pas été infiltrés par les cellules inflammatoires. Conclusion: L'inflammation granulomateuse périneurale qui ressemble à l'infiltration périneurale observée dans la lèpre semble un signe peu fréquent du granulome annulaire. L'établissement de corrélations cliniques et des colorations résistantes à l'acide peuvent faciliter la pose du bon diagnostic.

ABSTRACTIntroductionPolyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneuropathy (FAP) trial.MethodsWe assessed: (1) Proficiency of grading neurologic signs and correlation with neurophysiologic tests, and (2) clinometric performance of modified NIS+7 neurophysiologic tests (mNIS+7Ionis) and its subscores and correlation with disability and health scores.ResultsThe mNIS+7Ionis sensitively detected, characterized, and broadly scaled diverse polyneuropathy impairments. Polyneuropathy signs (NIS and subscores) correlated with neurophysiology tests, disability, and health scores. Smart Somatotopic Quantitative Sensation Testing of heat as pain 5 provided a needed measure of small fiber involvement not adequately assessed by other tests.ConclusionsSpecially trained neurologists accurately assessed neuropathy signs as compared to referenced neurophysiologic tests. The score, mNIS+7Ionis, broadly detected, characterized, and scaled polyneuropathy abnormality in FAP, which correlated with disability and health scores. Muscle Nerve 56: 901–911, 2017