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  • Bersano, A. (author)

Research Progresses in Understanding the Pathophysiology of Moyamoya Disease

  • Article/chapterEnglish2016

Publisher, publication year, extent ...

  • 2016-01-12
  • S. Karger AG,2016

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/233995
  • https://gup.ub.gu.se/publication/233995URI
  • https://doi.org/10.1159/000442298DOI

Supplementary language notes

  • Language:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Background: The pathogenesis of moyamoya disease (MMD) is still unknown. The detection of inflammatory molecules such as cytokines, chemokines and growth factors in MMD patients' biological fluids supports the hypothesis that an abnormal angiogenesis is implicated in MMD pathogenesis. However, it is unclear whether these anomalies are the consequences of the disease or rather causal factors as well as these mechanisms remain insufficient to explain the pathophysiology of MMD. The presence of a family history in about 9-15% of Asian patients, the highly variable incidence rate between different ethnic and sex groups and the age of onset support the role of genetic factors in MMD pathogenesis. However, although some genetic loci have been associated with MMD, few of them have been replicated in independent series. Recently, RNF213 gene was shown to be strongly associated with MMD occurrence with a founder effect in East Asian patients. However, the mechanisms leading from RNF213 mutations to MMD clinical features are still unknown. Summary: The research on pathogenic mechanism of MMD is in its infancy. MMD is probably a complex and heterogeneous disorder, including different phenotypes and genotypes, in which more than a single factor is implicated. Key Message: Since the diagnosis of MMD is rapidly increasing worldwide, the development of more efficient stratifying risk systems, including both clinical but also biological drivers became imperative to improve our ability of predict prognosis and to develop mechanism-tailored interventions.

Subject headings and genre

  • MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin hsv//swe
  • MEDICAL AND HEALTH SCIENCES Clinical Medicine hsv//eng
  • Moyamoya disease
  • Pathophysiology
  • Angiogenesis
  • Endothelial progenitor cells
  • Genetics
  • endothelial progenitor cells
  • human-leukocyte antigen
  • rnf213 r4810k
  • rs112735431
  • spontaneous occlusion
  • clinical-features
  • c.14576g-greater-than-a variant
  • angiogenic factors
  • surgical-treatment
  • cerebral-artery
  • adult patients
  • Neurosciences & Neurology
  • Cardiovascular System & Cardiology

Added entries (persons, corporate bodies, meetings, titles ...)

  • Guey, S. (author)
  • Bedini, G. (author)
  • Nava, S. (author)
  • Herve, D. (author)
  • Vajkoczy, P. (author)
  • Tatlisumak, TurgutGothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology(Swepub:gu)xtatlt (author)
  • Sareela, M. (author)
  • van der Zwan, A. (author)
  • Klijn, C. J. M. (author)
  • Braun, K. P. J. (author)
  • Kronenburg, A. (author)
  • Acerbi, F. (author)
  • Brown, M. M. (author)
  • Calviere, L. (author)
  • Cordonnier, C. (author)
  • Henon, H. (author)
  • Thines, L. (author)
  • Khan, N. (author)
  • Czabanka, M. (author)
  • Kraemer, M. (author)
  • Simister, R. (author)
  • Prontera, P. (author)
  • Tournier-Lasserve, E. (author)
  • Parati, E. (author)
  • Göteborgs universitetInstitutionen för neurovetenskap och fysiologi (creator_code:org_t)

Related titles

  • In:Cerebrovascular Diseases: S. Karger AG41:3-4, s. 105-1181015-97701421-9786

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