Delayed diagnosis of cardiac amyloidosis in a West African octogenarian
We report on a case of a West African octogenarian who was treated presumptively for heart failure with preserved ejection fraction from hypertensive heart disease, based on his initial clinical presentation and echocardiographic findings three years earlier. By adopting a stepwise approach to his evaluation, including revisiting the history, and the application of multimodality cardiac imaging, the patient was diagnosed with cardiac amyloidosis.PMID:38407420 | DOI:10.5830/CVJA-2024-001 (Source: Cardiovascular Journal of Africa)
Source: Cardiovascular Journal of Africa - February 26, 2024 Category: Cardiology Authors: Dzifa Ahadzi Abdul-Subulr Yakubu Alfred Doku Francis Agyekum Cyril Ofori Harold Ayetey Source Type: research

Delayed diagnosis of cardiac amyloidosis in a West African octogenarian
We report on a case of a West African octogenarian who was treated presumptively for heart failure with preserved ejection fraction from hypertensive heart disease, based on his initial clinical presentation and echocardiographic findings three years earlier. By adopting a stepwise approach to his evaluation, including revisiting the history, and the application of multimodality cardiac imaging, the patient was diagnosed with cardiac amyloidosis.PMID:38407420 | DOI:10.5830/CVJA-2024-001 (Source: Cardiovascular Journal of Africa)
Source: Cardiovascular Journal of Africa - February 26, 2024 Category: Cardiology Authors: Dzifa Ahadzi Abdul-Subulr Yakubu Alfred Doku Francis Agyekum Cyril Ofori Harold Ayetey Source Type: research

Origin of Transthyretin in Cerebral Amyloid Angiopathy
This case series evaluates the correlation between transthyretin and cerebral amyloid angiopathy progression in individuals with hereditary transthyretin amyloidosis. (Source: JAMA Neurology)
Source: JAMA Neurology - February 26, 2024 Category: Neurology Source Type: research

A new staging system using right atrial strain in patients with immunoglobulin light ‐chain cardiac amyloidosis
ConclusionsThe new staging system using RASr and BNP predicted prognosis in patients with AL cardiac amyloidosis. (Source: ESC Heart Failure)
Source: ESC Heart Failure - February 24, 2024 Category: Cardiology Authors: Hiroki Usuku, Eiichiro Yamamoto, Daisuke Sueta, Rumi Shinriki, Fumi Oike, Noriaki Tabata, Masanobu Ishii, Shinsuke Hanatani, Tadashi Hoshiyama, Hisanori Kanazawa, Yuichiro Arima, Seiji Takashio, Yawara Kawano, Seitaro Oda, Hiroaki Kawano, M Tags: Original Article Source Type: research

Degradation versus fibrillogenesis, two alternative pathways modulated by seeds and glycosaminoglycans
AbstractThe mechanism that converts native human transthyretin into amyloid fibrilsin vivo is still a debated and controversial issue. Commonly, non-physiological conditions of pH, temperature, or organic solvents are used inin vitro models of fibrillogenesis of globular proteins. Transthyretin amyloid formation can be achieved under physiological conditions through a mechano-enzymatic mechanism involving specific serine proteases such as trypsin or plasmin. Here, we investigate S52P and L111M transthyretin variants, both causing a severe form of systemic amyloidosis mostly targeting the heart at a relatively young age wit...
Source: Protein Science - February 21, 2024 Category: Biochemistry Authors: Guglielmo Verona, Sara Raimondi, Diana Canetti, P. Patrizia Mangione, Loredana Marchese, Alessandra Corazza, Francesca Lavatelli, Julian D. Gillmore, Graham W. Taylor, Vittorio Bellotti, Sofia Giorgetti Tags: RESEARCH ARTICLE Source Type: research

Presenilin-1 mutation position influences amyloidosis, small vessel disease, and dementia with disease stage
DISCUSSION: We demonstrated the genotypic variability behind spatiotemporal amyloidosis, SVD, and clinical presentation in DIAD, which may inform patient prognosis and clinical trials.HIGHLIGHTS: Mutation position influences Aβ burden, SVD, and dementia. PSEN1 pre-200 group had stronger associations between Aβ burden and disease stage. PSEN1 post-200 group had stronger associations between SVD markers and disease stage. PSEN1 post-200 group had worse dementia score than pre-200 in late disease stage. Diffusion tensor imaging-based SVD markers mediated mutation position effects on dementia in the late stage.PMID:38380882 ...
Source: The Journal of Alzheimers Association - February 21, 2024 Category: Psychiatry Authors: Nelly Joseph-Mathurin Rebecca L Feldman Ruijin Lu Zahra Shirzadi Carmen Toomer Junie R Saint Clair Yinjiao Ma Nicole S McKay Jeremy F Strain Collin Kilgore Karl A Friedrichsen Charles D Chen Brian A Gordon Gengsheng Chen Russ C Hornbeck Parinaz Massoumzad Source Type: research

Myocardial Texture Analysis of Echocardiograms in Cardiac Transthyretin Amyloidosis
(Source: Journal of the American Society of Echocardiography)
Source: Journal of the American Society of Echocardiography - February 21, 2024 Category: Cardiology Authors: Yesh Datar, Sarah A.M. Cuddy, Gavin Ovsak, Gerard T. Giblin, Mathew S. Maurer, Frederick L. Ruberg, Rima Arnaout, Sharmila Dorbala Tags: Brief Research Communication Source Type: research

Axonal excitability as an early biomarker of nerve involvement in hereditary transthyretin amyloidosis
CONCLUSIONS: These progressive changes seen across the disease spectrum in ATTRv-PN suggest that axonal excitability has utility to identify early and progressive nerve dysfunction in ATTRv, regardless of genotype.SIGNIFICANCE: Axonal excitability is a promising early biomarker of nerve dysfunction in ATTRv-PN.PMID:38377648 | DOI:10.1016/j.clinph.2024.01.006 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - February 20, 2024 Category: Neurology Authors: Antonia S Carroll Susanna B Park Cindy S Y Lin Mark S Taylor Fiona Kwok Neil G Simon Mary M Reilly Matthew C Kiernan Steve Vucic Source Type: research

Primary caruncle and eyelid amyloidosis
J Fr Ophtalmol. 2024 Feb 19;47(3):104036. doi: 10.1016/j.jfo.2023.104036. Online ahead of print.NO ABSTRACTPMID:38377841 | DOI:10.1016/j.jfo.2023.104036 (Source: Journal Francais d Ophtalmologie)
Source: Journal Francais d Ophtalmologie - February 20, 2024 Category: Opthalmology Authors: W Xiao Y Fu L Tang Source Type: research

Axonal excitability as an early biomarker of nerve involvement in hereditary transthyretin amyloidosis
CONCLUSIONS: These progressive changes seen across the disease spectrum in ATTRv-PN suggest that axonal excitability has utility to identify early and progressive nerve dysfunction in ATTRv, regardless of genotype.SIGNIFICANCE: Axonal excitability is a promising early biomarker of nerve dysfunction in ATTRv-PN.PMID:38377648 | DOI:10.1016/j.clinph.2024.01.006 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - February 20, 2024 Category: Neurology Authors: Antonia S Carroll Susanna B Park Cindy S Y Lin Mark S Taylor Fiona Kwok Neil G Simon Mary M Reilly Matthew C Kiernan Steve Vucic Source Type: research

Primary caruncle and eyelid amyloidosis
J Fr Ophtalmol. 2024 Feb 19;47(3):104036. doi: 10.1016/j.jfo.2023.104036. Online ahead of print.NO ABSTRACTPMID:38377841 | DOI:10.1016/j.jfo.2023.104036 (Source: Journal Francais d Ophtalmologie)
Source: Journal Francais d Ophtalmologie - February 20, 2024 Category: Opthalmology Authors: W Xiao Y Fu L Tang Source Type: research

Axonal excitability as an early biomarker of nerve involvement in hereditary transthyretin amyloidosis
CONCLUSIONS: These progressive changes seen across the disease spectrum in ATTRv-PN suggest that axonal excitability has utility to identify early and progressive nerve dysfunction in ATTRv, regardless of genotype.SIGNIFICANCE: Axonal excitability is a promising early biomarker of nerve dysfunction in ATTRv-PN.PMID:38377648 | DOI:10.1016/j.clinph.2024.01.006 (Source: Clinical Neurophysiology)
Source: Clinical Neurophysiology - February 20, 2024 Category: Neurology Authors: Antonia S Carroll Susanna B Park Cindy S Y Lin Mark S Taylor Fiona Kwok Neil G Simon Mary M Reilly Matthew C Kiernan Steve Vucic Source Type: research

All roads lead to … myocardial ischaemia in cardiac amyloidosis
(Source: European Journal of Heart Failure)
Source: European Journal of Heart Failure - February 19, 2024 Category: Cardiology Authors: Laurenz Hauptmann, Christian Nitsche Tags: Invited Editorial Source Type: research