Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
AG10 is a novel, potent, and selective oral transthyretin (TTR) stabilizer being developed to treat TTR amyloidosis (ATTR).
|
31172685 |
2020 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Assessment of myocardial uptake of Tc-99m-pyrophosphate (Tc-99m PYP) is pivotal in distinguishing transthyretin-associated cardiac amyloidosis (ATTR) from light chain amyloid (AL).
|
31172386 |
2020 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.
|
31728713 |
2020 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The APOE genotype was determined in ATTR amyloidosis patients treated with Patisiran.
|
31648569 |
2020 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
The final diagnosis was cardiac light-chain (AL) amyloidosis in 222, cardiac transthyretin (ATTR) amyloidosis in 214, and no cardiac involvement in 427 cases.
|
31202744 |
2020 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Revusiran, in development for the treatment of hereditary transthyretin-mediated amyloidosis, was discontinued after an imbalance in deaths in the "ENDEAVOUR" phase 3 clinical trial.
|
31821125 |
2020 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Patients with hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) present with mutations in the transthyretin (TTR) gene that lead to the formation of amyloid deposits in peripheral nerves and heart.
|
31701435 |
2020 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
ATTR amyloidosis is less recognized but is increasingly seen due to better recognition and improved diagnostic tools.
|
31706583 |
2020 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We, therefore, sequenced the TTR gene and used HRM in a group of 134 patients suspected of suffering from amyloidosis.
|
31740141 |
2020 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of the present study was to investigate if the type of amyloid fibril remains the same within ATTR Val30Met amyloidosis families.
|
30811423 |
2019 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a rare, life-threatening disease, caused by point mutations in the transthyretin gene.
|
31445300 |
2019 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Wild-type ATTR amyloidosis may be associated with unexpected death among the elderly.
|
31731233 |
2019 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The development of autonomic dysfunction impacts morbidity, disease progression, and mortality in patients with hereditary ATTR amyloidosis.
|
31473866 |
2019 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Besides the well-known mechanisms of immune activation and inflammation in atherosclerosis causing ischemic cardiomyopathy or myocarditis, attention is focused on other mechanisms leading to heart failure such as transthyretin (TTR) amyloidosis or heart failure with preserved ejection fraction.
|
31083399 |
2019 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by extracellular deposition of amyloid fibrils composed by transthyretin.
|
30683924 |
2019 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Only one patient in our study had light chain amyloidosis and showed higher TBR than patients with transthyretin amyloid: TBR 3.0 versus TBR median 1.44, IQR 1.33-1.69.
|
31140154 |
2019 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
C-terminal TTR fragments are often present in amyloid-laden tissues of most patients with ATTR amyloidosis, and on the basis of <i>in vitro</i> studies, these fragments have been proposed to play important roles in amyloid formation.
|
31167790 |
2019 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Clinicians should be more aware of the complex clinical profile of ATTR amyloidosis to avoid misdiagnosis in practice.
|
31718691 |
2019 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.
|
30470998 |
2019 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Patients with hereditary ATTR amyloidosis occasionally show electrophysiological demyelinating features without conduction block following severe axonal degeneration.
|
30688105 |
2019 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
At the same time, for one family of proteinopathies, the rare TTR amyloidoses, disease-modifying therapy has existed for almost 3 decades and two new types of disease-modifying therapy have become available more recently.
|
31699321 |
2019 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
Proteins, well known from other amyloidoses like amyloid A (AA), prealbumin/transthyretin (PA), apolipoprotein A-I (ApoAI), and amyloid P component (APC), and also keratin were found with variable intensities in the cases.
|
31531279 |
2019 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
ATTRm amyloidosis is due to variants in the TTR gene, with the substitution Val30Met as the most frequent mutation.
|
30295933 |
2019 |
Amyloidosis
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Tafamidis functions to delay the loss of function in transthyretin familial amyloid polyneuropathy (TTR-FAP), which is a rare inherited amyloidosis with progressive sensorimotor and autonomic polyneuropathy.
|
30618225 |
2019 |
Amyloidosis
|
0.500 |
Biomarker
|
disease |
BEFREE |
<b>Conclusion:</b> Tafamidis is an effective and safe oral medication for the treatment of the cardiomyopathy of transthyretin-mediated amyloidosis in adults to reduce cardiovascular mortality and cardiovascular-related hospitalization.
|
31735059 |
2019 |