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Sökning: id:"swepub:oai:DiVA.org:umu-216787" > A 15-year consolida...

  • Gentile, LucaUniversity of Messina, Messina, Italy (författare)

A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)

  • Artikel/kapitelEngelska2023

Förlag, utgivningsår, omfång ...

  • BioMed Central (BMC),2023
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:umu-216787
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-216787URI
  • https://doi.org/10.1186/s13023-023-02962-5DOI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • Background: Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in various tissues and organs.Methods: Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal, observational study of patients with ATTR amyloidosis, including both hereditary and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This analysis describes the baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2022), providing a consolidated overview of 15-year data from the THAOS registry.Results: This analysis included 4428 symptomatic patients and 1707 asymptomatic gene carriers. The majority of symptomatic patients were male (70.8%) with a mean (standard deviation [SD]) age at symptom onset of 56.6 (17.9) years. Compared with the 14-year analysis, V30M remained the most prevalent genotype in Europe (62.2%), South America (78.6%), and Japan (74.2%) and ATTRwt remained most common in North America (56.2%). Relative to the 14-year analysis, there was an increase of mixed phenotype (from 16.6 to 24.5%) and a reduction of predominantly cardiac phenotype (from 40.7 to 31.9%). The proportion of patients with predominantly neurologic phenotype remained stable (from 40.1 to 38.7%). Asymptomatic gene carriers were 58.5% female with a mean age at enrollment of 41.9 years (SD 15.5).Conclusions: This overview of > 6000 patients enrolled over 15 years in THAOS represents the largest registry analysis of ATTR amyloidosis to date and continues to emphasize the genotypic and phenotypic heterogeneity of the disease. Nearly a quarter of the symptomatic population within THAOS was mixed phenotype, underscoring the need for multidisciplinary management of ATTR amyloidosis.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Coelho, TeresaUnidade Corino Andrade, Centro Hospitalar Universitário de Santo António, Porto, Portugal (författare)
  • Dispenzieri, AngelaDivision of Hematology, Mayo Clinic, MN, Rochester, United States (författare)
  • Conceição, IsabelCHULN- Hospital de Santa Maria, FML, Universidade de Lisboa, Lisbon, Portugal (författare)
  • Waddington-Cruz, MárciaFederal University of Rio de Janeiro, National Amyloidosis Referral Center, CEPARM, Rio de Janeiro, Brazil (författare)
  • Kristen, ArntDepartment of Cardiology, Angiology, Respiratory Medicine, Medical University of Heidelberg, Heidelberg, Germany (författare)
  • Wixner, JonasUmeå universitet,Institutionen för folkhälsa och klinisk medicin(Swepub:umu)jowi0065 (författare)
  • Diemberger, IgorDepartment of Medical and Surgical Sciences, DIMEC, University of Bologna, Bologna, Italy; Cardiology Unit, IRCCS Policlinico di S. Orsola, Bologna, Italy (författare)
  • Gonzalez-Moreno, JuanHospital Son Llatzer, Palma de Mallorca, Spain (författare)
  • Cariou, EveDepartment of Cardiology, University Hospital Rangueil, Toulouse, France (författare)
  • Maurer, Mathew S.Columbia University College of Physicians and Surgeons, NY, New York, United States (författare)
  • Planté-Bordeneuve, ViolaineHopital Henri Mondor, East Paris-Créteil University, Assistance Publique-Hopitaux de Paris, Créteil, France (författare)
  • Garcia-Pavia, PabloHospital Universitario Puerta de Hierro Majadahonda, CIBERCV, Madrid, Spain; Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain (författare)
  • Tournev, IvailoClinic of Nervous Diseases, Department of Neurology, UMBAL Aleksandrovska, Medical University-Sofia, Sofia, Bulgaria; Department of Cognitive Science, New Bulgarian University, Sofia, Bulgaria (författare)
  • Gonzalez-Costello, JoseHospital Universitari de Bellvitge, IDIBELL, CIBER-CV, Barcelona, Spain (författare)
  • Duarte, Alejandra GonzalezNYU Langone School of Medicine, NY, New York, United States; Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico (författare)
  • Grogan, MarthaDepartment of Cardiovascular Diseases, Mayo Clinic, MN, Rochester, United States (författare)
  • Mazzeo, AnnaUniversity of Messina, Messina, Italy (författare)
  • Chapman, DougPfizer Inc, NY, New York, United States (författare)
  • Gupta, PritamPfizer Healthcare India Pvt Ltd, Chennai, India (författare)
  • Glass, OliverPfizer Inc, NY, New York, United States (författare)
  • Amass, LesliePfizer Inc, NY, New York, United States (författare)
  • University of Messina, Messina, ItalyUnidade Corino Andrade, Centro Hospitalar Universitário de Santo António, Porto, Portugal (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Orphanet Journal of Rare Diseases: BioMed Central (BMC)18:11750-1172

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