Results 61 to 70 of about 32,506 (196)

A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report

Терапевтический архив, 2023
Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic disorder associated with extracellular deposition in the tissues and organs of amyloid fibrils, transthyretin-containing insoluble protein-polysaccharide complexes.
Olga S. Chumakova, Svetlana N. Nasonova, Yulia V. Frolova, Elena A. Stepanova, Elena A. Mershina, Valentin E. Sinitsyn, Dmitry A. Zateyshchikov, Igor V. Zhirov   +7 more
doaj   +1 more source

Reliability and validity of the Transthyretin Amyloidosis – Quality of Life (ATTR-QOL) Questionnaire impact scales

Journal of Patient-Reported Outcomes
Background The diversity of disease phenotypes associated with transthyretin (ATTR) amyloidosis poses challenges for measurement of health outcomes. The Transthyretin Amyloidosis – Quality of Life (ATTR-QOL) Questionnaire is a disease-specific patient ...
Andrew Lovley, Kristen Hsu, Kaitlin LaGasse, Isabelle Lousada, Kristen L. McCausland, Michelle K. Carty, Sabrina Rebello, Jakob B. Bjorner   +7 more
doaj   +1 more source

Estimation of prevalence of transthyretin (ATTR) cardiac amyloidosis in an Australian subpopulation using bone scans with echocardiography and clinical correlation

, 2020
Background: Bone scans differentiate transthyretin (ATTR) cardiac amyloidosis from light chain amyloidosis and other causes of increased left ventricular (LV) wall thickness.
Cuscaden, Claire, Cuscaden, C, Prasad, Sandhir, Ramsay, Stuart C., Ramsay, SC, Goodwin, B, Smith, Jye, Smith, J, Goodwin, Bruce, Prasad, S   +9 more
core   +1 more source

Light Chain Monoclonal Gammopathy of Undetermined Significance: Diagnosis, Biology, and Clinical Management

European Journal of Haematology, EarlyView.
ABSTRACT Light chain monoclonal gammopathy of undetermined significance (LC‐MGUS) is defined by an abnormal serum free light chain ratio and elevated involved light chain in the absence of a detectable immunoglobulin heavy chain on immunofixation and of end‐organ damage attributable to a plasma cell disorder.
Sigurður Yngvi Kristinsson, Thórir Einarsson Long, Sigrún Thorsteinsdóttir   +2 more
wiley   +1 more source

Incidental detection of ATTR cardiac amyloidosis [PDF]

Journal of Nuclear Cardiology, 2022
Jessica A, Quaggin-Smith, Ramsey M, Wehbe, Thomas A, Holly   +2 more
openaire   +2 more sources

CARDIAC AND EXTRACARDIAC AMYLOIDOSIS IN V122I ATTR [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2014
Introduction Hereditary transthyretin-related amyloidosis (ATTR) is a genetically heterogenous disease which may present with a predominant peripheral and autonomic neuropathy, a cardiac myopathy, or with both neurological and cardiac involvement. The V122I variant has a frequency of 3–4% in African Americans and causes 11% of cardiomyopathy in this ...
Aisling Carr, Z Jaunmuktane, Healy Pelayo, D Hutt, S Brandner Holton, J Blake, CJ Whelan, AD Wechalekar, JD Gilmore, PN Hawkins, MM Reilly   +10 more
openaire   +1 more source

Role of FibroScan in evaluating hepatic involvement in systemic amyloidosis: a single‐centre prospective pilot study

Internal Medicine Journal, EarlyView.
Abstract Background Amyloidosis encompasses a group of diseases characterised by extracellular deposition of misfolded protein fibrils, potentially leading to organ dysfunction. Liver involvement occurs via direct amyloid infiltration, common in immunoglobulin light chain (AL) amyloidosis, or congestive hepatopathy, more typical in transthyretin (ATTR)
M Tang, N Vootukuru, J Tjahyadi, D Clayton Chubb, H Jina, SB Ting, S Bloom, R Sawhney, S Gibbs, O. Niewiadomski   +9 more
wiley   +1 more source

Pittsburgh compound B positron emission tomography detects cardiomyopathy in hereditary transthyretin amyloidosis patients with negative bone scintigraphy: a pilot study

Frontiers in Nuclear Medicine
PurposeTo evaluate the effectiveness of positron emission tomography (PET) with [11C]-Pittsburgh Compound-B ([11C]PiB) for detecting transthyretin amyloid (ATTR) cardiomyopathy in patients with transthyretin gene (TTR) variants associated with reduced ...
Hendrea S. A. Tingen, Gilles N. Stormezand, Paul van Snick, Yingqi Hu, Paul Van Der Zwaag, Marish Oerlemans, Marish Oerlemans, Peter van der Meer, Bouke P. C. Hazenberg, Gert Luurtsema, Hans L. A. Nienhuis, Riemer H. J. A. Slart, Riemer H. J. A. Slart   +12 more
doaj   +1 more source

Smart Design: Integrating Artificial Intelligence and Gene Editing for Advanced mRNA Therapeutics

MedComm – Biomaterials and Applications, Volume 5, Issue 3, September 2026.
The challenges of mRNA therapy and the application of artificial intelligence and gene editing in the field of mRNA drugs. ABSTRACT Artificial intelligence (AI) and gene editing are increasingly being applied to the design and evaluation of mRNA therapeutics.
Haixing Shi, Shengbin Liu, Danni Dai, Shanhui Jiang, Tingchen Tian, Zhenyi Niu, Zhongzheng Xiang, Chaoyu Zou, Fang Liu, Xue Tang, Xin Jiang, Xiangrong Song   +11 more
wiley   +1 more source

Systemic Amyloidosis with Cardiac Involvement: Features of Course and Diagnostic Difficulties

Архивъ внутренней медицины
The diversity of clinical forms of amyloidosis is related to differences in amyloidogenic precursor proteins. Cardiac involvement is characteristic of AL- and ATTR-amyloidosis, with cardiac involvement developing in the vast majority of patients with AL ...
E. V. Voloshinova, I. Yu. Khorkina, A. M. Dzuban, E. V. Yakovleva   +3 more
doaj   +1 more source