65 research outputs found

    Driving a motor vehicle and psychogenic nonepileptic seizures: ILAE Report by the Task Force on Psychogenic Nonepileptic Seizures

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    Objectives This International League Against Epilepsy (ILAE) Report: (a) summarizes the literature about “driving and psychogenic nonepileptic seizures (PNES)”; (b) presents the views of international experts; and (c) proposes an approach to assessing the ability of persons with PNES (PwPNES) to drive. Methods Phase 1: Systematic literature review. Phase 2: Collection of international expert opinion using SurveyMonkey¼. Experts included the members of the ILAE PNES Task Force and individuals with relevant publications since 2000. Phase 3: Joint analysis of the findings and refinement of conclusions by all participants using email. As an ILAE Report, the resulting text was reviewed by the Psychiatry Commission, the ILAE Task Force on Driving Guidelines, and Executive Committee. Results Eight studies identified by the systematic review process failed to provide a firm evidence base for PNES‐related driving regulations, but suggest that most health professionals think restrictions are appropriate. Twenty‐six experts responded to the survey. Most held the view that decisions about driving privileges should consider individual patient and PNES characteristics and take account of whether permits are sought for private or commercial driving. Most felt that those with active PNES should not be allowed to drive unless certain criteria were met and that PNES should be thought of as “active” if the last psychogenic seizure had occurred within 6 months. Significance Recommendations on whether PwPNES can drive should be made at the individual patient level. Until future research has determined the risk of accidents in PwPNES a proposed algorithm may guide decisions about driving advice

    Functional seizures are not less important than epilepsy

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    Functional seizures (FS) are frequently encountered in neurology clinics, often affect young adults, and have significant negative impacts on many aspects of a person\u27s life. In the current narrative review, we searched the literature regarding some of the consequences of FS (i.e., psychiatric comorbidities, social consequences, costs that are associated with the condition, cognitive impairment in patients with FS, the quality of life of the people with FS, and the increased risk of mortality that is associated with FS). Evidence shows that FS have significant negative consequences, comparable in their magnitude to those affecting patients with epilepsy. The clinical and scientific communities should take steps to address these consequences through clinical care and research that prioritizes, facilitates, and expedites evidence-based diagnosis and treatment for FS

    De novo SOX6 variants cause a neurodevelopmental syndrome associated with attention deficit/hyperactivity disorder, craniosynostosis and osteochondroma

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    SOX6&nbsp;belongs to a family of 20&nbsp;SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For&nbsp;SOX6, these processes include, but are not limited to, neurogenesis and skeletogenesis. Variants in half of the SOX genes have been shown to cause severe developmental and adult syndromes, referred to as SOXopathies. We here provide evidence that&nbsp;SOX6&nbsp;variants also cause a SOXopathy. Using clinical and genetic data, we identify 19 individuals harboring various types of&nbsp;SOX6&nbsp;alterations and exhibiting developmental delay and/or intellectual disability; the individuals are from 17 unrelated families. Additional, inconstant features include attention-deficit/hyperactivity disorder (ADHD), autism, mild facial dysmorphism, craniosynostosis, and multiple osteochondromas. All variants are heterozygous. Fourteen are&nbsp;de novo, one is inherited from a mosaic father, and four offspring from two families have a paternally inherited variant. Intragenic microdeletions, balanced structural rearrangements, frameshifts, and nonsense variants are predicted to inactivate the&nbsp;SOX6&nbsp;variant allele. Four missense variants occur in residues and protein regions highly conserved evolutionarily. These variants are not detected in the gnomAD control cohort, and the amino acid substitutions are predicted to be damaging. Two of these variants are located in the HMG domain and abolish SOX6 transcriptional activity&nbsp;in&nbsp;vitro. No clear genotype-phenotype correlations are found. Taken together, these findings concur that&nbsp;SOX6&nbsp;haploinsufficiency leads to a neurodevelopmental SOXopathy that often includes ADHD and abnormal skeletal and other features.</p

    Acculturation and the acceptance of the Genocide Convention

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    This article contributes to the burgeoning literature on why states ratify human rights treaties. It first analyses why Ireland, the United Kingdom and the United States did not initially ratify or accede to the 1948 Genocide Convention, and then explores why the three countries eventually did accept it, 20–40 years after it was approved by the United Nations General Assembly. The extent to which material costs and benefits, the logic of appropriateness, and acculturation played a role in each of the three cases is assessed. Acculturation is particularly evident in the Irish case, but it also helps to explain the UK and US acceptance of the Convention

    Laterally modulating carrier concentration by ion irradiation in CdO thin films for mid-IR plasmonics

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    This report demonstrates tunable carrier densities in CdO thin films through local ion irradiation, providing lateral control of mid-IR optical properties. Ion-solid interactions produce donor-like defects that boost electron concentrations from the practical minimum of 2.5 × 1019 cm−3 to a maximum of 2.5 × 1020 cm−3 by metered ion exposure. This range is achieved using He, N, Ar, or Au ions at 1–2.8 MeV; when normalized by displacements per atom, all ion species produce comparable results. Since CdO is well-described by the Drude model, irradiation-tuned carrier densities directly alter the infrared dielectric function, and in turn, mid-infrared optical properties. Further, it is demonstrated that by combining irradiation with traditional lithography, CdO films expose to ions in the presence of 3-”m thick, patterned photoresist exhibit lateral carrier density profiles with ≈400-nm resolution. Scanning near-field optical microscopy reveals sharp optical interfaces with almost no companion contrast in surface morphology, microstructure, or crystallinity. Finally, CdO lateral homostructures supporting surface plasmon polaritons (SPPs) are demonstrated whose dispersion relation can be tuned through periodic patterning in a monolithic platform by simple nanofabrication. Numerical simulations show these polaritons result from strong coupling between excitations at CdO plasma frequencies and SPPs supported by the platinum substrate
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