Results 51 to 60 of about 125,062 (284)

Real-world treatment management in hereditary transthyretin amyloidosis – an experience report and proposal for therapy switch decision criteria

Neurological Research and Practice
Background Hereditary transthyretin amyloidosis is a rapidly progressive and lethal disease. Thanks to the increasing number of disease-modifying treatments, prognosis has improved significantly.
Duc Chu Dieu, Helena F. Pernice, Harisa Muratovic, Paul J. Wetzel, Gina Barzen, Nicolas W. Wieder, Stefanie M. Werhahn, Bettina Heidecker, Sebastian Spethmann, Katrin Hahn   +9 more
doaj   +1 more source

Negative [99mTc]Tc -DPD Scintigraphy, Presence of Monoclonal Protein and Biopsy Suggestive of AL Amyloidosis in a Patient With Homozygous p.Ala101Val Transthyretin Gene Variant. [PDF]

Clin Case Rep
ABSTRACT Amyloidosis is a rare disease associated with the deposition of misfolded proteins that damage multiple organs, leading to a wide range of symptoms. The most frequently implicated proteins in amyloidosis include immunoglobulin Free Light Chains (FLC), related to AL amyloidosis, and transthyretin (TTR), which is responsible for ATTR amyloidosis.
Kryszpin P, Jachimowski P, Augustowski Ł, Ziarkiewicz M, Basak G, Lipowska M, Legatowicz-Koprowska M, Ziarkiewicz-Wróblewska B, Gawor-Prokopczyk M.   +8 more
europepmc   +2 more sources

Localised Laryngeal Amyloidosis Endoscopic Excision -A Case Report [PDF]

, 2013
:We report a case of primary laryngeal amyloidosis in a 35 year old adult patient who presented with hoarseness of voice for 6 months duration with no other symptoms.
Sundhar Krishnan, Gurunathan, Varma, Srinivasa, Vikram, Venakata Subramanian Jagannathan   +2 more
core   +1 more source

Prediction of peptide and protein propensity for amyloid formation [PDF]

, 2014
Understanding which peptides and proteins have the potential to undergo amyloid formation and what driving forces are responsible for amyloid-like fiber formation and stabilization remains limited.
A Quintas, A Trovato, A Trovato, AC Davison, AC Tsolis, Alexandre Quintas, AM Fernandez-Escamilla, AP Pawar, AV Finkelstein, B Rost, C Nerelius, Carlos Família, CM Dobson, D Eisenberg, David A. Phoenix, DJ Selkoe, DM Fowler, Eugene A. Permyakov, F Chiti, F Chiti, F Sasagawa, GG Tartaglia, GG Tartaglia, H Hu, I Cherny, I Walsh, IV Baskakov, J Palau, J Tian, JC Rochet, JD Sipe, JM Zimmerman, JW Kelly, JW Kelly, K Rajagopal, KF DuBay, KK Frousios, KT O’Neil, L Goldschmidt, LO Jimenez, M Belli, M Emily, M Hollander, M Kuhn, M López de la Paz, M Oliveberg, M Stefani, M Sunde, M Sunde, M Zamani, MB Kursa, MJ Thompson, MT Pastor, N Becker, N Qian, O Conchillo-Solé, PK Teng, PY Chou, RS Harrison, S Idicula-thomas, S Kawashima, S Kawashima, S Maurer-Stroh, S Ventura, S Yoon, S Yoon, Sarah R. Dennison, SJ Hamodrakas, SJ Hamodrakas, SK Maji, SO Garbuzynskiy, T Hothorn, T Hothorn, T Hothorn, T Scheibel, TPJ Knowles, VS Mathura, WH DePas, WT Astbury, Y Kallberg, Ž Eva   +80 more
core   +5 more sources

Enhanced Sensitivity of a Modified Quaking‐Induced Conversion Diagnostic Test for the Broad Detection of Sporadic and Inherited Prion Diseases: A Retrospective Study

Annals of Neurology, EarlyView.
Objective Quaking‐induced conversion (QuIC) tests, which detect prion‐seeding activity in cerebrospinal fluid (CSF), have markedly advanced the antemortem diagnosis of prion diseases such as Creutzfeldt‐Jakob disease (CJD). These tests provide high diagnostic accuracy and enable timely differentiation from other rapidly progressive neurodegenerative ...
Jennifer Myskiw, Rebecca Fox, Dominic M.S. Kielich, Lise Lamoureux, Melanie Leonhardt, Olivia Nykvist, Jessy A. Slota, Kristen Avery, Clark Phillipson, Kathy Frost, Sharon Simon, Brian S. Appleby, Ben A. Bailey‐Elkin, Stephanie A. Booth   +13 more
wiley   +1 more source

o‐Terphenyl‐Based Family of Conjugated Macrocycles: Selective Recognition of Phenylalanine in Water and Interaction With Insulin

Angewandte Chemie International Edition, EarlyView.
This study presents the synthesis and binding properties of a new family of o‐terphenyl‐based macrocycles, TP[n] (n = 2‐8). The trimer variant efficiently binds phenylalanine in water with a 10‐fold selectivity compared to other amino acids and aromatic neurotransmitters.
Swapnil Ghule, Sayan Sarkar, Maria Eugenia Pérez‐Ojeda Rodriguez, Mark Spector, Frank Hampel, Evgeny A. Kataev   +5 more
wiley   +1 more source

The relationship between amyloid structure and cytotoxicity [PDF]

, 2014
Self-assembly of proteins and peptides into amyloid structures has been the subject of intense and focused research due to their association with neurodegenerative, age-related human diseases and transmissible prion diseases in humans and mammals. Of the
Marchante, Ricardo, Marshall, Karen E, Serpell, Louise C, Xue, Wei-Feng   +3 more
core   +1 more source

Long‐Term Outcomes of Reduced Intensity Conditioning Hematopoietic Stem Cell Transplantation for Systemic Sclerosis Patients with Impaired Cardiac Function

Arthritis &Rheumatology, Accepted Article.
Objective High intensity conditioning autologous hematopoietic stem cell transplantation (AHSCT) is standard of care for patients with advanced SSc. The role of reduced intensity conditioning (RIC) prior to AHSCT in this population remains unclear. We conducted this study to determine the long‐term outcomes of RIC AHSCT in SSc patients with cardiac ...
Yonatan Lean, Carrie Richardson, Anthony Esposito, Katy Bedjeti, George E. Georges   +4 more
wiley   +1 more source

Hereditary amyloidosis [PDF]

Arthritis & Rheumatism, 1970
AbstractA review of hereditary amyloidoses is provided by papers from a 1969 international symposium on primary amyloidosis. These discussions allow comparison of the amyloid neuropathy with onset in the lower extremities (Portuguese‐Japanese families), the neuropathy with onset in the upper extremities (Indiana‐Maryland families), the neuropathy and ...
C, Andrade, S, Araki, W D, Block, A S, Cohen, C E, Jackson, Y, Kuroiwa, J, Nissim, E, Sohar, V A, McKusick, M W, Van Allen   +9 more
openaire   +2 more sources

Cerebral Amyloid and Hypertension are Independently Associated with White Matter Lesions in Elderly. [PDF]

, 2015
In cognitively normal (CN) elderly individuals, white matter hyperintensities (WMH) are commonly viewed as a marker of cerebral small vessel disease (SVD).
Alzheimer’s Disease Neuroimaging Initiative, Braskie, Meredith N, Carmichael, Owen T, DeCarli, Charles, Scott, Julia A, Thompson, Paul M, Tosun, Duygu, Weiner, Michael   +7 more
core   +2 more sources