| 1. |
- Lauterbur, M. Elise, et al.
(author)
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Expanding the stdpopsim species catalog, and lessons learned for realistic genome simulations
- 2023
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In: eLIFE. - : eLife Sciences Publications Ltd. - 2050-084X. ; 12
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Journal article (peer-reviewed)abstract
- Simulation is a key tool in population genetics for both methods development and empirical research, but producing simulations that recapitulate the main features of genomic datasets remains a major obstacle. Today, more realistic simulations are possible thanks to large increases in the quantity and quality of available genetic data, and the sophistication of inference and simulation software. However, implementing these simulations still requires substantial time and specialized knowledge. These challenges are especially pronounced for simulating genomes for species that are not well-studied, since it is not always clear what information is required to produce simulations with a level of realism sufficient to confidently answer a given question. The community-developed framework stdpopsim seeks to lower this barrier by facilitating the simulation of complex population genetic models using up-to-date information. The initial version of stdpopsim focused on establishing this framework using six well-characterized model species (Adrion et al., 2020). Here, we report on major improvements made in the new release of stdpopsim (version 0.2), which includes a significant expansion of the species catalog and substantial additions to simulation capabilities. Features added to improve the realism of the simulated genomes include non-crossover recombination and provision of species-specific genomic annotations. Through community-driven efforts, we expanded the number of species in the catalog more than threefold and broadened coverage across the tree of life. During the process of expanding the catalog, we have identified common sticking points and developed the best practices for setting up genome-scale simulations. We describe the input data required for generating a realistic simulation, suggest good practices for obtaining the relevant information from the literature, and discuss common pitfalls and major considerations. These improvements to stdpopsim aim to further promote the use of realistic whole-genome population genetic simulations, especially in non-model organisms, making them available, transparent, and accessible to everyone.
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| 2. |
- Raghavan, Maanasa, et al.
(author)
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Genomic evidence for the Pleistocene and recent population history of Native Americans
- 2015
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In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 349:6250
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Journal article (peer-reviewed)abstract
- Howand when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year isolation period in Beringia. After their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 ka, one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative "Paleoamerican" relict populations, including the historical Mexican Pericues and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.
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| 3. |
- Cao, Yi, et al.
(author)
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A strong ultraviolet pulse from a newborn type Ia supernova
- 2015
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In: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 521:7552, s. 328-
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Journal article (peer-reviewed)abstract
- Type Ia supernovae(1) are destructive explosions of carbon-oxygen white dwarfs(2,3). Although they are used empirically to measure cosmological distances(4-6), the nature of their progenitors remains mysterious(3). One of the leading progenitor models, called the single degenerate channel, hypothesizes that a white dwarf accretes matter from a companion star and the resulting increase in its central pressure and temperature ignites thermonuclear explosion(3,7,8). Here we report observations with the Swift Space Telescope of strong but declining ultraviolet emission from a type Ia supernova within four days of its explosion. This emission is consistent with theoretical expectations of collision between material ejected by the supernova and a companion star(9), and therefore provides evidence that some type Ia supernovae arise from the single degenerate channel.
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| 4. |
- Casanueva, Felipe F., et al.
(author)
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Criteria for the definition of Pituitary Tumor Centers of Excellence (PTCOE): A Pituitary Society Statement
- 2017
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In: Pituitary. - : Springer Science and Business Media LLC. - 1386-341X .- 1573-7403. ; 20, s. 489-498
-
Research review (peer-reviewed)abstract
- © 2017, The Author(s). Introduction: With the goal of generate uniform criteria among centers dealing with pituitary tumors and to enhance patient care, the Pituitary Society decided to generate criteria for developing Pituitary Tumors Centers of Excellence (PTCOE). Methods: To develop that task, a group of ten experts served as a Task Force and through two years of iterative work an initial draft was elaborated. This draft was discussed, modified and finally approved by the Board of Directors of the Pituitary Society. Such document was presented and debated at a specific session of the Congress of the Pituitary Society, Orlando 2017, and suggestions were incorporated. Finally the document was distributed to a large group of global experts that introduced further modifications with final endorsement. Results: After five years of iterative work a document with the ideal criteria for a PTCOE is presented. Conclusions: Acknowledging that very few centers in the world, if any, likely fulfill the requirements here presented, the document may be a tool to guide improvements of care delivery to patients with pituitary disorders. All these criteria must be accommodated to the regulations and organization of Health of a given country.
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| 5. |
- Ho, Ken, et al.
(author)
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Pituitary Neoplasm Nomenclature Workshop: Does Adenoma Stand the Test of Time?
- 2021
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In: Journal of the Endocrine Society. - : The Endocrine Society. - 2472-1972. ; 5:3
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Research review (peer-reviewed)abstract
- The WHO Classification of Endocrine Tumours designates pituitary neoplasms as adenomas. A proposed nomenclature change to pituitary neuroendocrine tumors (PitNETs) has been met with concern by some stakeholder groups. The Pituitary Society coordinated the Pituitary Neoplasm Nomenclature (PANOMEN) workshop to address the topic. Experts in pituitary developmental biology, pathology, neurosurgery, endocrinology, and oncology, including representatives nominated by the Endocrine Society, European Society of Endocrinology, European Neuroendocrine Association, Growth Hormone Research Society, and International Society of Pituitary Surgeons. Clinical epidemiology, disease phenotype, management, and prognosis of pituitary adenomas differ from that of most NETs. The vast majority of pituitary adenomas are benign and do not adversely impact life expectancy. A nomenclature change to PitNET does not address the main challenge of prognostic prediction, assigns an uncertain malignancy designation to benign pituitary adenomas, and may adversely affect patients. Due to pandemic restrictions, the workshop was conducted virtually, with audiovisual lectures and written précis on each topic provided to all participants. Feedback was collated and summarized by Content Chairs and discussed during a virtual writing meeting moderated by Session Chairs, which yielded an evidence-based draft document sent to all participants for review and approval. There is not yet a case for adopting the PitNET nomenclature. The PANOMEN Workshop recommends that the term adenoma be retained and that the topic be revisited as new evidence on pituitary neoplasm biology emerges.
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| 6. |
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| 7. |
- Moore, Josh, et al.
(author)
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OME-Zarr : A cloud-optimized bioimaging file format with international community support
- 2023
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In: Histochemistry and Cell Biology. - : Springer Nature. - 1432-119X .- 0948-6143. ; 160:3, s. 223-251
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Journal article (peer-reviewed)abstract
- A growing community is constructing a next-generation file format (NGFF) for bioimaging to overcome problems of scalability and heterogeneity. Organized by the Open Microscopy Environment (OME), individuals and institutes across diverse modalities facing these problems have designed a format specification process (OME-NGFF) to address these needs. This paper brings together a wide range of those community members to describe the cloud-optimized format itself-OME-Zarr-along with tools and data resources available today to increase FAIR access and remove barriers in the scientific process. The current momentum offers an opportunity to unify a key component of the bioimaging domain-the file format that underlies so many personal, institutional, and global data management and analysis tasks.
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| 8. |
- Rubin, Adam, et al.
(author)
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TYPE II SUPERNOVA ENERGETICS AND COMPARISON OF LIGHT CURVES TO SHOCK-COOLING MODELS
- 2016
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In: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 820:1
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Journal article (peer-reviewed)abstract
- During the first few days after explosion, Type II supernovae (SNe) are dominated by relatively simple physics. Theoretical predictions regarding early-time SN light curves in the ultraviolet (UV) and optical bands are thus quite robust. We present, for the first time, a sample of 57 R-band SN II light curves that are well-monitored during their rise, with > 5 detections during the first 10 days after discovery, and a well-constrained time of explosion to within 1-3 days. We show that the energy per unit mass (E/M) can be deduced to roughly a factor of five by comparing early-time optical data to the 2011 model of Rabinak & Waxman, while the progenitor radius cannot be determined based on R-band data alone. We find that SN II explosion energies span a range of E/M = (0.2-20) x 10(51) erg/(10 M-circle dot), and have a mean energy per unit mass of < E/M > = 0.85 x 10(51) erg/(10 M-circle dot), corrected for Malmquist bias. Assuming a small spread in progenitor masses, this indicates a large intrinsic diversity in explosion energy. Moreover, E/M is positively correlated with the amount of Ni-56 produced in the explosion, as predicted by some recent models of core-collapse SNe. We further present several empirical correlations. The peak magnitude is correlated with the decline rate (Delta m(15)), the decline rate is weakly correlated with the rise time, and the rise time is not significantly correlated with the peak magnitude. Faster declining SNe are more luminous and have longer rise times. This limits the possible power sources for such events.
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| 9. |
- Bardarson, Jens H., et al.
(author)
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Transport in Topological Insulator Nanowires
- 2018
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In: Springer Series in Solid-State Sciences. - Cham : Springer Nature. ; , s. 93-114
-
Book chapter (peer-reviewed)abstract
- In this chapter, we review our work on the theory of quantum transport in topological insulator nanowires. We discuss both normal state properties and superconducting proximity effects, including the effects of magnetic fields and disorder. Throughout we assume that the bulk is insulating and inert, and work with a surface-only theory. The essential transport properties are understood in terms of three special modes: in the normal state, half a flux quantum along the length of the wire induces a perfectly transmitted mode protected by an effective time-reversal symmetry; a transverse magnetic field induces chiral modes at the sides of the wire, with different chiralities residing on different sides protecting them from backscattering; and finally, Majorana zero modes are obtained at the ends of a wire in a proximity to a superconductor, when combined with a flux along the wire. Some parts of our discussion have a small overlap with the discussion in the review [1]. We do not aim to give a complete review of the published literature, instead the focus is mainly on our own and directly related work.
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| 10. |
- Barsheshet, Alon, et al.
(author)
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Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events Implications for Mutation-Specific Response to beta-Blocker Therapy in Type 1 Long-QT Syndrome
- 2012
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In: Circulation. - 1524-4539. ; 125:16, s. 1988-1988
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Journal article (peer-reviewed)abstract
- Background-beta-Adrenergic stimulation is the main trigger for cardiac events in type 1 long-QT syndrome (LQT1). We evaluated a possible association between ion channel response to beta-adrenergic stimulation and clinical response to beta-blocker therapy according to mutation location. Methods and Results-The study sample comprised 860 patients with genetically confirmed mutations in the KCNQ1 channel. Patients were categorized into carriers of missense mutations located in the cytoplasmic loops (C loops), membrane-spanning domain, C/N terminus, and nonmissense mutations. There were 27 aborted cardiac arrest and 78 sudden cardiac death events from birth through 40 years of age. After multivariable adjustment for clinical factors, the presence of C-loop mutations was associated with the highest risk for aborted cardiac arrest or sudden cardiac death (hazard ratio versus nonmissense mutations = 2.75; 95% confidence interval, 1.29-5.86; P=0.009). beta-Blocker therapy was associated with a significantly greater reduction in the risk of aborted cardiac arrest or sudden cardiac death among patients with C-loop mutations than among all other patients (hazard ratio=0.12; 95% confidence interval, 0.02-0.73; P=0.02; and hazard ratio=0.82; 95% confidence interval, 0.31-2.13; P=0.68, respectively; P for interaction=0.04). Cellular expression studies showed that membrane spanning and C-loop mutations produced a similar decrease in current, but only C-loop mutations showed a pronounced reduction in channel activation in response to beta-adrenergic stimulation. Conclusions-Patients with C-loop missense mutations in the KCNQ1 channel exhibit a high risk for life-threatening events and derive a pronounced benefit from treatment with beta-blockers. Reduced channel activation after sympathetic activation can explain the increased clinical risk and response to therapy in patients with C-loop mutations. (Circulation. 2012; 125: 1988-1996.)
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| 11. |
- Behrends, J., et al.
(author)
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Anomalous conductance scaling in strained Weyl semimetals
- 2019
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In: Physical Review Research. - : American Physical Society (APS). - 2643-1564. ; 1:3
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Journal article (peer-reviewed)abstract
- Magnetotransport provides key experimental signatures in Weyl semimetals. The longitudinal magnetoresistance is linked to the chiral anomaly and the transversal magnetoresistance to the dominant charge relaxation mechanism. Axial magnetic fields that act with opposite sign on opposite chiralities facilitate new transport experiments that probe the low-energy Weyl nodes. As recently realized, these axial fields can be achieved by straining samples or adding inhomogeneities to them. Here, we identify a robust signature of axial magnetic fields: an anomalous scaling of the conductance in the diffusive ultraquantum regime. In particular, we demonstrate that the longitudinal conductivity in the ultraquantum regime of a disordered Weyl semimetal subjected to an axial magnetic field increases with both the field strength and sample width due to a spatial separation of charge carriers. We contrast axial magnetic with real magnetic fields to clearly distinguish the different behavior of the conductance. Our results rely on numerical tight-binding simulations and are supported by analytical arguments. We argue that the spatial separation of charge carriers can be used for directed currents in microstructured electronic devices.
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| 12. |
- de Juan, F., et al.
(author)
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Conditions for fully gapped topological superconductivity in topological insulator nanowires
- 2019
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In: SciPost Physics. - : SciPost Foundation. - 2542-4653. ; 6:5
-
Journal article (peer-reviewed)abstract
- Among the different platforms to engineer Majorana fermions in one-dimensional topological superconductors, topological insulator nanowires remain a promising option. Threading an odd number of flux quanta through these wires induces an odd number of surface channels, which can then be gapped with proximity induced pairing. Because of the flux and depending on energetics, the phase of this surface pairing may or may not wind around the wire in the form of a vortex. Here we show that for wires with discrete rotational symmetry, this vortex is necessary to produce a fully gapped topological superconductor with localized Majorana end states. Without a vortex the proximitized wire remains gapless, and it is only if the symmetry is broken by disorder that a gap develops, which is much smaller than the one obtained with a vortex. These results are explained with the help of a continuum model and validated numerically with a tight binding model, and highlight the benefit of a vortex for reliable use of Majorana fermions in this platform. Copyright F. de Juan et al.
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| 13. |
- Hoffman, Joel, et al.
(author)
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Mapping the availability of translated versions of posttraumatic stress disorder screening questionnaires for adults : A scoping review
- 2022
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In: European Journal of Psychotraumatology. - : Informa UK Limited. - 2000-8198 .- 2000-8066. ; 13:2
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Research review (peer-reviewed)abstract
- Background: The most used questionnaires for PTSD screening in adults were developed in English. Although many of these questionnaires were translated into other languages, the procedures used to translate them and to evaluate their reliability and validity have not been consistently documented. This comprehensive scoping review aimed to compile the currently available translated and evaluated questionnaires used for PTSD screening, and highlight important gaps in the literature.Objective: This review aimed to map the availability of translated and evaluated screening questionnaires for posttraumatic stress disorder (PTSD) for adults.Methods: All peer-reviewed studies in which a PTSD screening questionnaire for adults was translated, and which reported at least one result of a qualitative and /or quantitative evaluation procedure were included. The literature was searched using Embase, MEDLINE, and APA PsycInfo, citation searches and contributions from study team members. There were no restrictions regarding the target languages of the translations. Data on the translation procedure, the qualitative evaluation, the quantitative evaluation (dimensionality of the questionnaire, reliability, and performance), and open access were extracted.Results: A total of 866 studies were screened, of which 126 were included. Collectively, 128 translations of 12 different questionnaires were found. Out of these, 105 (83.3%) studies used a forward and backward translation procedure, 120 (95.2%) assessed the reliability of the translated questionnaire, 60 (47.6%) the dimensionality, 49 (38.9%) the performance, and 42 (33.3%) used qualitative evaluation procedures. Thirty-four questionnaires (27.0%) were either freely available or accessible on request.Conclusions: The analyses conducted and the description of the methods and results varied substantially, making a quality assessment impractical. Translations into languages spoken in middle- or low-income countries were underrepresented. In addition, only a small proportion of all translated questionnaires were available. Given the need for freely accessible translations, an online repository was developed.
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| 14. |
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| 15. |
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| 16. |
- Kovalerchik, D, et al.
(author)
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Cytotoxic Alkylynols of the Sponge Cribrochalina vasculum: Structure, Synthetic Analogs and SAR Studies
- 2022
-
In: Marine drugs. - : MDPI AG. - 1660-3397. ; 20:4
-
Journal article (peer-reviewed)abstract
- A series of twenty-three linear and branched chain mono acetylene lipids were isolated from the Caribbean Sea sponge Cribrochalina vasculum. Seventeen of the compounds, 1–17, are new, while six, 18–23, were previously characterized from the same sponge. Some of the new acetylene-3-hydroxy alkanes 1, 6, 7, 8, 10 were tested for selective cytotoxicity in non-small cell lung carcinoma (NSCLC) cells over WI-38 normal diploid lung fibroblasts. Compound 7, presented clear tumor selective activity while, 1 and 8, showed selectivity at lower doses and 6 and 10, were not active towards NSCLC cells at all. The earlier reported selective cytotoxicity of some acetylene-3-hydroxy alkanes (scal-18 and 23), in NSCLC cells and/or other tumor cell types were also confirmed for 19, 20 and 22. To further study the structure activity relationships (SAR) of this group of compounds, we synthesized several derivatives of acetylene-3-hydroxy alkanes, rac-18, scal-S-18, R-18, rac-27, rac-32, R-32, S-32, rac-33, rac-41, rac-42, rac-43, rac-45, rac-48 and rac-49, along with other 3-substituted derivatives, rac-35, rac-36, rac-37, rac-38, rac-39 and rac-40, and assessed their cytotoxic activity against NSCLC cells and diploid fibroblasts. SAR studies revealed that the alcohol moiety at position 3 and its absolute R configuration both were essential for the tumor cell line selective activity while for its cytotoxic magnitude the alkyl chain length and branching were of less significance.
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| 17. |
- Ma, Li-Jun, et al.
(author)
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Comparative genomics reveals mobile pathogenicity chromosomes in Fusarium.
- 2010
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 464:7287, s. 367-73
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Journal article (peer-reviewed)abstract
- Fusarium species are among the most important phytopathogenic and toxigenic fungi. To understand the molecular underpinnings of pathogenicity in the genus Fusarium, we compared the genomes of three phenotypically diverse species: Fusarium graminearum, Fusarium verticillioides and Fusarium oxysporum f. sp. lycopersici. Our analysis revealed lineage-specific (LS) genomic regions in F. oxysporum that include four entire chromosomes and account for more than one-quarter of the genome. LS regions are rich in transposons and genes with distinct evolutionary profiles but related to pathogenicity, indicative of horizontal acquisition. Experimentally, we demonstrate the transfer of two LS chromosomes between strains of F. oxysporum, converting a non-pathogenic strain into a pathogen. Transfer of LS chromosomes between otherwise genetically isolated strains explains the polyphyletic origin of host specificity and the emergence of new pathogenic lineages in F. oxysporum. These findings put the evolution of fungal pathogenicity into a new perspective.
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| 18. |
- Matthews, Luke J., et al.
(author)
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Collective action by community groups : solutions for climate change or different players in the same game?
- 2023
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In: Climate and Development. - : Taylor & Francis. - 1756-5529 .- 1756-5537. ; 15:8, s. 679-691
-
Journal article (peer-reviewed)abstract
- Community groups are taking initiatives to adapt to a changing climate. These organizations differ from businesses and governments by being non-profit, often informal, resource limited, and reliant on volunteer labor. How these organizations facilitate collective action is not well known, especially since they do not necessarily solve common pool resource governance, but rather improve common pool resources through collective action. In fact, at first glance, community groups seem to not have the means for solving collective action problems used routinely in industry and government, such as paying people for cooperation or punishing them for lack of it.This article investigates how community groups solve collective action problems though data gathered across 25 organizations in three sites - Sitka, Alaska, USA; Toco, Trinidad; and a global site of distributed citizen science organizations. We found that community groups used positive reinforcement methods common to industry and used little punishment. Groups also engaged in mechanisms for collective action, such as relying on altruistic contributions by few individuals, that generally are not considered commonplace in businesses and governments. We conclude by discussing implications from this study for collective action theory and for how policymakers might learn from community groups to address climate change.
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| 19. |
- Meriläinen, Eija, 1987-, et al.
(author)
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Puppeteering as a metaphor for unpacking power in participatory action research on climate change and health
- 2022
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In: Climate and Development. - : Taylor & Francis. - 1756-5529 .- 1756-5537. ; 14:5, s. 419-430
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Journal article (peer-reviewed)abstract
- The health impacts of climate change are distributed inequitably, with marginalized communities typically facing the direst consequences. However, the concerns of the marginalized remain comparatively invisible in research, policy and practice. Participatory action research (PAR) has the potential to centre these concerns, but due to unequal power relations among research participants, the approaches often fall short of their emancipatory ideals. To unpack how power influences the dynamics of representation in PAR, this paper presents an analytical framework using the metaphor of ‘puppeteering’. Puppeteering is a metaphor for how a researcher-activist resonates and catalyses both the voices (ventriloquism) and actions (marionetting) of a marginalized community. Two questions and continuums are central to the framework. First, who and where the puppeteer is (insider and outsider agents). Second, what puppeteering is (action and research; radical and managerial). Examples from climate change and health research provide illustrations and contextualizations throughout. A key complication for applying PAR to address the health impacts of climate change is that for marginalized communities, climate change typically remains a few layers removed from the determinants of health. The community’s priorities may be at odds with a research and action agenda framed in terms of climate change and health.
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| 20. |
- Peters, Laura E. R., et al.
(author)
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Toward resourcefulness : pathways for community positive health
- 2021
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In: Global Health Promotion. - : Sage Publications. - 1757-9759 .- 1757-9767. ; 29:3, s. 5-13
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Journal article (peer-reviewed)abstract
- Communities are powerful and necessary agents for defining and pursuing their health, but outside organizations often adopt community health promotion approaches that are patronizing and top-down. Conversely, bottom-up approaches that build on and mobilize community health assets are often critiqued for tasking the most vulnerable and marginalized communities to use their own limited resources without real opportunities for change. Taking into consideration these community health promotion shortcomings, this article asks how communities may be most effectively and appropriately supported in pursuing their health. This article reviews how community health is understood, moving from negative to positive conceptualizations; how it is determined, moving from a risk-factor orientation to social determination; and how it is promoted, moving from top-down to bottom-up approaches. Building on these understandings, we offer the concept of ‘resourcefulness’ as an approach to strengthen positive health for communities, and we discuss how it engages with three interrelated tensions in community health promotion: resources and sustainability, interdependence and autonomy, and community diversity and inclusion. We make practical suggestions for outside organizations to apply resourcefulness as a process-based, place-based, and relational approach to community health promotion, arguing that resourcefulness can forge new pathways to sustainable and self-sustaining community positive health.
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| 21. |
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| 22. |
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| 23. |
- Shannon, Geordan, et al.
(author)
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Think global, act local : using a translocal approach to understand community-based organisations' responses to planetary health crises during COVID-19
- 2023
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In: The Lancet Planetary Health. - : Elsevier. - 2542-5196. ; 7:10, s. e850-e858
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Journal article (peer-reviewed)abstract
- Little is known on how community-based responses to planetary health crises, such as the COVID-19 pandemic, can integrate concerns about livelihoods, equity, health, wellbeing, and the environment. We used a translocal learning approach to co-develop insights on community-based responses to complex health and environmental and economic crises with leaders from five organisations working with communities at the front line of intersecting planetary health challenges in Finland, India, Kenya, Peru, and the USA. Translocal learning supports collective knowledge production across different localities in ways that value local perspectives but transcend national boundaries. There were three main findings from the translocal learning process. First, thanks to their proximity to the communities they served, community-based organisations (CBOs) can quickly identify the ways in which COVID-19 might worsen existing social and health inequities. Second, localised CBO actions are key to supporting communities with unique challenges in the face of systemic planetary health crises. Third, CBOs can develop rights-based, ecologically-minded actions responding to local priorities and mobilising available resources. Our findings show how solutions to planetary health might come from small-scale community initiatives that are well connected within and across contexts. Locally-focused globally-aware actions should be harnessed through greater recognition, funding, and networking opportunities. Globally, planetary health initiatives should be supported by applying the principles of subsidiarity and translocalism.
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| 24. |
- Shoenfeld, Yehuda, et al.
(author)
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Features associated with epilepsy in the antiphospholipid syndrome
- 2004
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In: Journal of Rheumatology. - 0315-162X. ; 31:7, s. 1344-1348
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Journal article (peer-reviewed)abstract
- OBJECTIVE: To assess the frequency of epilepsy in primary and secondary antiphospholipid syndrome (APS); to analyze the clinical and laboratory features characterizing those with epilepsy in a cohort of 538 patients with APS; and to find associated features that would suggest risk factors for epilepsy in APS. METHODS: We analyzed the clinical features of patients with APS who had epilepsy and compared them to the clinical features of non-epileptic APS patients. RESULTS: Of 538 APS patients, 46 (8.6%) had epilepsy. Epilepsy was more prevalent among APS secondary to systemic lupus erythematosus (SLE) compared to primary APS (13.7% vs 6%; p < 0.05). The patients with epilepsy had a higher prevalence of central nervous system (CNS) manifestations including focal ischemic events (strokes or transient ischemic events, 54.3% vs 24.6%; p < 0.0001) and amaurosis fugax (15.2% vs 4.9%; p < 0.05). APS patients with epilepsy had a higher frequency of valvular pathology (30.4% vs 14.6%; p < 0.01), thrombocytopenia (43.5% vs 25%; p < 0.05), and livedo reticularis (26.1% vs 11.5%; p < 0.01). The multivariate logistic regression analysis found CNS thromboembolic events as the most significant factor associated with epilepsy, with an odds ratio (OR) of 4.05 (95% confidence interval, CI: 2.05-8), followed by SLE (OR 1.4, 95% CI 1.2-4.7), and valvular vegetations (OR 2.87, 95% CI 1-8.27). CONCLUSION: Epilepsy is common in APS and most of the risk seems to be linked to vascular disease as manifested by extensive CNS involvement, valvulopathy, and livedo reticularis and to the presence of SLE. These factors, however, explain only part of the increased occurrence of epilepsy in APS and other causes such as direct immune interaction in the brain should be investigated.
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| 25. |
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| 26. |
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