Results 11 to 20 of about 141,957 (168)

Inotersen: new promise for the treatment of hereditary transthyretin amyloidosis [PDF]

Drug Design, Development and Therapy, 2019
Veena Mathew,1 Annabel K Wang1,2 1Department of Neurology, UCI ALS and Neuromuscular Center, University of California, Irvine, Orange, CA, USA; 2Neurology Section, Tibor Rubin VA Medical Center, Long Beach, CA, USA Abstract: Hereditary transthyretin ...
Mathew V, Wang AK
doaj   +3 more sources

Hereditary transthyretin amyloidosis: a case report

Journal of Medical Case Reports, 2022
Background Hereditary transthyretin amyloidosis is an uncommon multisystem disorder caused by mutation of the transthyretin protein, leading to peripheral neuropathy often with autonomic features, cardiomyopathy, or a mixed phenotype.
Angela Lee, Nowell M. Fine, Vera Bril, Diego Delgado, Christopher Hahn   +4 more
doaj   +2 more sources

Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey [PDF]

Cardiology and Therapy, 2023
Introduction Transthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is increasingly described.
Juan González-Moreno, Angela Dispenzieri, Martha Grogan, Teresa Coelho, Ivailo Tournev, Márcia Waddington-Cruz, Jonas Wixner, Igor Diemberger, Pablo Garcia-Pavia, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, the THAOS investigators   +13 more
doaj   +4 more sources

Localized Tracheobronchial Transthyretin Amyloidosis Diagnosed After Hemoptysis: A Case Report

Respirology Case Reports
Pulmonary involvement in transthyretin amyloidosis (ATTR) is rare, and tracheobronchial involvement is particularly uncommon. We report a case of wild‐type ATTR amyloidosis presenting with hemoptysis in a 66‐year‐old woman with dyspnea.
Koichi Inoue, Yasumasa Tanaka, Masahiro Yanagi, Haruhiko Michimata, Yuta Nagahisa, Shun Kondoh   +5 more
doaj   +2 more sources

Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis [PDF]

, 2021
Hereditary transthyretin amyloidosis in both endemic and nonendemic areas can have heterogeneous clinical presentations within the same family and may be difficult to ...
Rowczenio, Dorota, Bashford, James, Reilly, Mary M., Reilly, Mary M, Cechin, Laura, Gillmore, Julian D, Coutinho, Ester, Gasmelseed, Jihad, Gillmore, Julian D., Dorota Rowczenio, Mary M. Reilly, Laura Cechin, Julian D. Gillmore, James Bashford, Ester Coutinho, Jihad Gasmelseed   +15 more
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Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags

Scientific Reports
Transthyretin (TTR) amyloidosis manifests in two distinct forms: hereditary (ATTRv) and wild-type transthyretin amyloidosis (ATTRwt). Despite being one of the commonest manifestations in ATTRv amyloidosis, the presence of polyneuropathy has long been ...
Janna M. Siemer, Lea Grote-Levi, Anja Hänselmann, Mieke L. Sassmann, Sandra Nay, Dominica Ratuszny, Sonja Körner, Tabea Seeliger, Martin W. Hümmert, Maike F. Dohrn, André Huss, Hayrettin Tumani, Vega Gödecke, Michael Heuser, Johann Bauersachs, Udo Bavendiek, Thomas Skripuletz, Stefan Gingele   +17 more
doaj   +2 more sources

Hereditary Transthyretin Amyloidosis with Polyneuropathy: Monitoring and Management [PDF]

, 2022
Our aim in this review is to discuss current treatments and investigational products and their effect on patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and provide suggestions for monitoring disease progression and ...
Nedkova-Hristova, Velina, Casasnovas, Carlos, Valentina Vélez-Santamaría, Vélez Santamaría, Valentina, Vélez-Santamaría, Valentina, Morales de la Prida, Moisés, Moisés Morales de la Prida, Velina Nedkova-Hristova, Carlos Casasnovas, Nedkova Hristova, Velina, Casasnovas Pons, Carlos   +10 more
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Hereditary transthyretin amyloidosis overview [PDF]

, 2020
Hereditary amyloidogenic transthyretin (ATTRv) amyloidosis is a rare autosomal dominantly inherited disorder caused by mutations in the transthyretin (TTR) gene.
Pareyson D., Manganelli F., Fabrizi G. M., Luigetti M., Mazzeo A., Mandich P.   +5 more
core   +2 more sources

Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review

Biomedicines, 2023
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly diagnosed condition. Although wild-type transthyretin amyloidosis (ATTRwt) is the most common ATTR-CM, hereditary transthyretin amyloidosis (ATTRv) may also occur.
Ana-Maria Merino-Merino, Jorge Labrador-Gomez, Ester Sanchez-Corral, Pedro-David Delgado-Lopez, Jose-Angel Perez-Rivera   +4 more
doaj   +1 more source

Senile Systemic Amyloidosis: Clinical Features at Presentation and Outcome [PDF]

, 2013
Background Cardiac amyloidosis is a fatal disease whose prognosis and treatment rely on identification of the amyloid type. In our aging population transthyretin amyloidosis (ATTRwt) is common and must be differentiated from other amyloid types.
Banypersad, SM, Whelan, CJ, Lachmann, HJ, Gillmore, JD, Gibbs, SD, Hawkins, PN, McCarthy, CA, Sattianayagam, P, Rowczenio, D, Wechalekar, A, Venner, CP, Petrie, A, Dungu, J, Wassef, N, Pinney, JH, Gilbertson, JA   +15 more
core   +1 more source