2,453 research outputs found

    Pain as a symptom of peripheral nerve sheath tumors: clinical significance and future therapeutic directions

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    Tumors arising from the supporting cells of peripheral nerve sheaths are relatively uncommon neoplasms, and as such many clinicians are unfamiliar with the details of their presentation, diagnosis and management. Further, little is known regarding the pathogenesis of these tumors, how they cause symptoms, and how to treat these symptoms. One classic symptom of peripheral nerve tumors is pain, however there has been little formal discussion regarding the significance of pain in this setting. Here we present a brief review of the clinical significance of pain, its relevance in pre-operative planning for the treatment of these tumors, and what is known regarding the molecular mechanisms of pain generation by these tumors

    Utility and lower limits of frequency detection in surface electrode stimulation for somatosensory brain-computer interface in humans

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    Objective: Stimulation of the primary somatosensory cortex (S1) has been successful in evoking artificial somatosensation in both humans and animals, but much is unknown about the optimal stimulation parameters needed to generate robust percepts of somatosensation. In this study, the authors investigated frequency as an adjustable stimulation parameter for artificial somatosensation in a closed-loop brain-computer interface (BCI) system. Methods: Three epilepsy patients with subdural mini-electrocorticography grids over the hand area of S1 were asked to compare the percepts elicited with different stimulation frequencies. Amplitude, pulse width, and duration were held constant across all trials. In each trial, subjects experienced 2 stimuli and reported which they thought was given at a higher stimulation frequency. Two paradigms were used: first, 50 versus 100 Hz to establish the utility of comparing frequencies, and then 2, 5, 10, 20, 50, or 100 Hz were pseudorandomly compared. Results: As the magnitude of the stimulation frequency was increased, subjects described percepts that were “more intense” or “faster.” Cumulatively, the participants achieved 98.0% accuracy when comparing stimulation at 50 and 100 Hz. In the second paradigm, the corresponding overall accuracy was 73.3%. If both tested frequencies were less than or equal to 10 Hz, accuracy was 41.7% and increased to 79.4% when one frequency was greater than 10 Hz (p = 0.01). When both stimulation frequencies were 20 Hz or less, accuracy was 40.7% compared with 91.7% when one frequency was greater than 20 Hz (p < 0.001). Accuracy was 85% in trials in which 50 Hz was the higher stimulation frequency. Therefore, the lower limit of detection occurred at 20 Hz, and accuracy decreased significantly when lower frequencies were tested. In trials testing 10 Hz versus 20 Hz, accuracy was 16.7% compared with 85.7% in trials testing 20 Hz versus 50 Hz (p < 0.05). Accuracy was greater than chance at frequency differences greater than or equal to 30 Hz. Conclusions: Frequencies greater than 20 Hz may be used as an adjustable parameter to elicit distinguishable percepts. These findings may be useful in informing the settings and the degrees of freedom achievable in future BCI systems

    Utility and lower limits of frequency detection in surface electrode stimulation for somatosensory brain-computer interface in humans

    Get PDF
    Objective: Stimulation of the primary somatosensory cortex (S1) has been successful in evoking artificial somatosensation in both humans and animals, but much is unknown about the optimal stimulation parameters needed to generate robust percepts of somatosensation. In this study, the authors investigated frequency as an adjustable stimulation parameter for artificial somatosensation in a closed-loop brain-computer interface (BCI) system. Methods: Three epilepsy patients with subdural mini-electrocorticography grids over the hand area of S1 were asked to compare the percepts elicited with different stimulation frequencies. Amplitude, pulse width, and duration were held constant across all trials. In each trial, subjects experienced 2 stimuli and reported which they thought was given at a higher stimulation frequency. Two paradigms were used: first, 50 versus 100 Hz to establish the utility of comparing frequencies, and then 2, 5, 10, 20, 50, or 100 Hz were pseudorandomly compared. Results: As the magnitude of the stimulation frequency was increased, subjects described percepts that were “more intense” or “faster.” Cumulatively, the participants achieved 98.0% accuracy when comparing stimulation at 50 and 100 Hz. In the second paradigm, the corresponding overall accuracy was 73.3%. If both tested frequencies were less than or equal to 10 Hz, accuracy was 41.7% and increased to 79.4% when one frequency was greater than 10 Hz (p = 0.01). When both stimulation frequencies were 20 Hz or less, accuracy was 40.7% compared with 91.7% when one frequency was greater than 20 Hz (p < 0.001). Accuracy was 85% in trials in which 50 Hz was the higher stimulation frequency. Therefore, the lower limit of detection occurred at 20 Hz, and accuracy decreased significantly when lower frequencies were tested. In trials testing 10 Hz versus 20 Hz, accuracy was 16.7% compared with 85.7% in trials testing 20 Hz versus 50 Hz (p < 0.05). Accuracy was greater than chance at frequency differences greater than or equal to 30 Hz. Conclusions: Frequencies greater than 20 Hz may be used as an adjustable parameter to elicit distinguishable percepts. These findings may be useful in informing the settings and the degrees of freedom achievable in future BCI systems

    Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia

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    BACKGROUND/AIM:X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadic hypogonadism. It is caused by deletions or point mutations of the NR0B1 gene, on Xp21. AHC can be associated with glycerol kinase deficiency, Duchenne muscular dystrophy and mental retardation (MR), as part of a contiguous gene deletion syndrome. A synthetic probe set for multiplex ligation-dependent probe amplification analysis was developed to confirm and characterize NR0B1 deletions in patients with AHC and to correlate their genotypes with their divergent phenotypes. RESULTS:In 2 patients, isolated AHC was confirmed, while a patient at risk for metabolic crisis was revealed as the deletion extends to the GK gene. A deletion extending to IL1RAPL1 was confirmed in both patients showing MR. Thus, a good genotype-phenotype correlation was confirmed. CONCLUSIONS:Multiplex ligation-dependent probe amplification analysis is a valuable tool to detect NR0B1 and contiguous gene deletions in patients with AHC. It is especially helpful for IL1RAPL1 deletion detection as no clinical markers for MR are available. Furthermore, multiplex ligation-dependent probe amplification has the advantage to identify female carriers that, depending on the deletion extension, have a high risk of giving birth to children with MR, AHC, glycerol kinase deficiency and Duchenne muscular dystrophy

    Utilizing Light-field Imaging Technology in Neurosurgery

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    Traditional still cameras can only focus on a single plane for each image while rendering everything outside of that plane out of focus. However, new light-field imaging technology makes it possible to adjust the focus plane after an image has already been captured. This technology allows the viewer to interactively explore an image with objects and anatomy at varying depths and clearly focus on any feature of interest by selecting that location during post-capture viewing. These images with adjustable focus can serve as valuable educational tools for neurosurgical residents. We explore the utility of light-field cameras and review their strengths and limitations compared to other conventional types of imaging. The strength of light-field images is the adjustable focus, as opposed to the fixed-focus of traditional photography and video. A light-field image also is interactive by nature, as it requires the viewer to select the plane of focus and helps with visualizing the three-dimensional anatomy of an image. Limitations include the relatively low resolution of light-field images compared to traditional photography and video. Although light-field imaging is still in its infancy, there are several potential uses for the technology to complement traditional still photography and videography in neurosurgical education

    Utilizing Light-field Imaging Technology in Neurosurgery

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    Traditional still cameras can only focus on a single plane for each image while rendering everything outside of that plane out of focus. However, new light-field imaging technology makes it possible to adjust the focus plane after an image has already been captured. This technology allows the viewer to interactively explore an image with objects and anatomy at varying depths and clearly focus on any feature of interest by selecting that location during post-capture viewing. These images with adjustable focus can serve as valuable educational tools for neurosurgical residents. We explore the utility of light-field cameras and review their strengths and limitations compared to other conventional types of imaging. The strength of light-field images is the adjustable focus, as opposed to the fixed-focus of traditional photography and video. A light-field image also is interactive by nature, as it requires the viewer to select the plane of focus and helps with visualizing the three-dimensional anatomy of an image. Limitations include the relatively low resolution of light-field images compared to traditional photography and video. Although light-field imaging is still in its infancy, there are several potential uses for the technology to complement traditional still photography and videography in neurosurgical education

    Exploring the genetics of irritable bowel syndrome: A GWA study in the general population and replication in multinational case-control cohorts

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    OBJECTIVE: IBS shows genetic predisposition, but adequately powered gene-hunting efforts have been scarce so far. We sought to identify true IBS genetic risk factors by means of genome-wide association (GWA) and independent replication studies. DESIGN: We conducted a GWA study (GWAS) of IBS in a general population sample of 11\u2005326 Swedish twins. IBS cases (N=534) and asymptomatic controls (N=4932) were identified based on questionnaire data. Suggestive association signals were followed-up in 3511 individuals from six case-control cohorts. We sought genotype-gene expression correlations through single nucleotide polymorphism (SNP)-expression quantitative trait loci interactions testing, and performed in silico prediction of gene function. We compared candidate gene expression by real-time qPCR in rectal mucosal biopsies of patients with IBS and controls. RESULTS: One locus at 7p22.1, which includes the genes KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2) and GRID2IP (glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein), showed consistent IBS risk effects in the index GWAS and all replication cohorts and reached p=9.31 710(-6) in a meta-analysis of all datasets. Several SNPs in this region are associated with cis effects on KDELR2 expression, and a trend for increased mucosal KDLER2 mRNA expression was observed in IBS cases compared with controls. CONCLUSIONS: Our results demonstrate that general population-based studies combined with analyses of patient cohorts provide good opportunities for gene discovery in IBS. The 7p22.1 and other risk signals detected in this study constitute a good starting platform for hypothesis testing in future functional investigations. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions
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