Results 111 to 120 of about 8,194 (217)

Clinical and laboratory test in patients with familial amyloid polyneuropathy (TTR-FAP): differences between symptomatic patients and asymptomatic carriers [PDF]

Introducción: La polineuropatía amiloidótica familiar asociada a transtirretina (PAF-TTR) es una enfermedad causada por el depósito el depósito de amiloide en los tejidos, cuya proteína precursora es la transtirretina.
Buades-Reines, Juan, Gállego-Lezaun, Cristina, Raya-Cruz, Manuel, Ripoll-Vera, Tomás, Usón-Martín, Mercedes   +4 more
core   +1 more source

Psychological aspects of pre-symptomatic testing for Machado–Joseph disease and familial amyloid polyneuropathy type I [PDF]

, 2006
Machado–Joseph disease [MJD, also spinocerebellar ataxia type 3 (SCA3)] and familial amyloid polyneuropathy type I (FAP-I or ATTR V30M) are neurodegenerative disorders, inherited in an autosomal dominant fashion, which have a high prevalence in Portugal,
Fleming, Manuela, Leite, Ângela, Lêdo, S., Paneque, M., Rolim, Luísa, Sequeiros, J.   +5 more
core   +2 more sources

Cardiac amyloidosis in a Swiss autopsy cohort – distribution and clinical relevance

Swiss Medical Weekly
AIMS: Cardiac amyloidosis (CA) characterised by myocardial amyloid accumulation is likely underdiagnosed. The distribution and extent of myocardial amyloid deposits remain unclear.
Albert Baschong, Sara Ersözlü, Frank Ruschitzka, Andreas J. Flammer, Christoph A. Meier, Zsuzsanna Varga, Holger Moch, Umberto Maccio   +7 more
doaj   +1 more source

Generation of two induced pluripotent stem cell lines from hereditary amyloidosis patients with polyneuropathy carrying heterozygous transthyretin (TTR) mutation

Stem Cell Research
Hereditary transthyretin amyloidosis with polyneuropathy (ATTR-PN) results from specific TTR gene mutations. In this study, we generated two induced pluripotent stem cell (iPSC) lines derived from ATTR-PN patients with heterozygous TTR gene mutations ...
Juan Melesio, Bernardo Bonilauri, Audrey Li, Paul D. Pang, Ronglih Liao, Ronald M. Witteles, Joseph C. Wu, Karim Sallam   +7 more
doaj   +1 more source

Content Validation of the ATTR Amyloidosis Patient Symptom Survey: Findings from Patient and Clinician Cognitive Debriefing Interviews

Patient Related Outcome Measures, 2020
Avery A Rizio,1 Lynne E Broderick,1 Michelle K White,1 Tiffany P Quock2 1Optum Life Sciences, Patient Insights, Johnston, RI, USA; 2Prothena Biosciences Inc, South San Francisco, CA, USACorrespondence: Avery A RizioOptum Life Sciences, Patient Insights ...
Rizio AA, Broderick LE, White MK, Quock TP   +3 more
doaj  

Cardiac amyloidosis: clinical characteristics, prognostic factors and treatment [PDF]

, 2020
Cardiac amyloidosis occurs when misfolded protein fibrils are deposited in the extracellular space of the myocardium. The most common causes for cardiac amyloidosis are light chain (AL) amyloidosis and transthyretin (ATTR) amyloidosis.
Patel, Ketna
core  

Primary billiary cirrhosis (antimitochondrial antibody negative) leading to secondary amyloidosis [PDF]

, 2012
A 49 years old lady presented with low-grade fever (99-100degreesF) for 2 years. During this time she was extensively worked-up for pyrexia of unknown origin but no diagnosis could be established.
Almas, Aysha, Parkash, Om
core   +2 more sources

Central Nervous System Involvement as the Initial Manifestation of Transthyretin Amyloidosis: A Case Report and Literature Review

iRADIOLOGY
Transthyretin amyloidosis (ATTR), a rare systemic disorder characterized by misfolded transthyretin (TTR) protein aggregation, predominantly affects the heart and peripheral nervous system.
Fen Li, Mingsheng Wan, Benjian Sun, Lijia Zou, Huan Yang, Jing Li, Si Chen   +6 more
doaj   +1 more source

A case of pulmonary transthyretin amyloidosis with concurrent mycobacterial tuberculosis infection

Respirology Case Reports
Amyloidosis is a pathological deposition disease that causes a spectrum of organ dysfunction. Pulmonary involvement is generally associated with immunoglobulin light chain type (AL) amyloid. Transthyretin (ATTR) amyloid build up in the lung is thought to
Hanson Siu, Ari Mond, James Shaw, Ruth Chin, Patrick Hosking, Hari Wimaleswaran   +5 more
doaj   +1 more source

Chest pain in a patient with transthyretin cardiac amyloidosis: A case report

Clinical Case Reports
Key Clinical Message Patients with transthyretin cardiac amyloidosis (ATTR‐CM) commonly present with dyspnea, fatigue, and edema. In our case, the main presentation was exertional angina, which was atypical in patients with ATTR‐CM and should be paid ...
Linfeng Xie, Suxin Luo, Bi Huang
doaj   +1 more source