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Cascade genetic screening in families with hereditary transthyretin amyloidosis: diagnostic and prognostic impact

Background and aims: Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disease with variable penetrance. Cascade genetic screening may enable earlier diagnosis and intervention, but its prognostic impact remains unclear. Methods: This study retrospectively analysed 967 individuals from 431 families between 2004 and 2024 across 15 Italian referral centres. Participants were categorized as ATTRv index cases, symptomatic carriers (genotype-positive/phenotype-positive [G+/P+])...

Long-Term Durability of Acoramidis Efficacy in Transthyretin Amyloid Cardiomyopathy: Open-Label Extension of the ATTRibute-CM Randomized Clinical Trial

Importance: Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive disorder caused by destabilization of serum transthyretin (sTTR). Acoramidis, an approved therapy that achieves near-complete (≥90%) sTTR stabilization, demonstrated clinical benefit through month 30 in ATTRibute-CM, which was incremental through month 42 in the open-label extension (OLE); however, the longer-term durability of outcomes has not been reported. Objective: To evaluate the long-term efficacy and safety of...

Impact of acoramidis on clinical stability in transthyretin amyloid cardiomyopathy: Observations from ATTRibute-CM

Aims: Acoramidis is an oral transthyretin (TTR) stabilizer that achieves near-complete (≥90%) TTR stabilization. This post-hoc analysis evaluated response categories based on NT-proBNP concentration and 6-minute walk distance (6MWD) changes among participants with transthyretin amyloid cardiomyopathy (ATTR-CM) in the phase 3 ATTRibute-CM trial. Methods and results: Clinically meaningful improvement (CMI) was defined as a decrease from baseline to Month 30 in NT-proBNP of >700 ng/L and >30%, a...

Inflammatory cardiomyopathy: Position paper of the Italian Society of Cardiology Working Group on cardiomyopathies and pericardial diseases in collaboration with the Italian Society of Cardiology Working Group on cardiac magnetic resonance

: Inflammatory cardiomyopathy (iCMP) usually represents the chronic, hypokinetic phenotype within the myocarditis spectrum, characterized by persistent myocardial inflammation, systolic ventricular dysfunction, and adverse remodelling. It frequently evolves from prior acute or subacute myocarditis and is associated with significantly worse outcomes, including progression to dilated cardiomyopathy, heart failure, and arrhythmias. The condition arises from heterogeneous causes-infectious, autoi...

Dynamic profiling in inflammatory Bowel disease: A manifesto for personalized care

Inflammatory bowel disease (IBD), encompassing Crohn's disease and ulcerative colitis, is a heterogeneous chronic condition whose clinical management has been advanced by the availability of molecularly targeted therapies. Despite this progress, marked inter- and intra-patient variability limits the effectiveness of a one-size-fits-all treatment approach. Precision medicine is a promising solution, but its implementation in routine care is limited. In this manifesto, we propose a multidimensi...

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  • 1 - Contributo su rivista154097
  • 2 - Contributo in volume2
  • 4 - Contributo in atti di convegno (Proceedings)1
Autore
  • SUPURAN, CLAUDIU TRANDAFIR2082
  • D'ALESSANDRO, RAFFAELLO1856
  • FOCARDI, ETTORE1764
  • CIULLI, VITALIANO1674
  • LENZI, PIERGIULIO1420
  • LATINO, GIUSEPPE1158
  • PETRAGLIA, FELICE1021
  • GENSINI, GIAN FRANCO945
  • MATUCCI CERINIC, MARCO891
  • BRANDI, MARIA LUISA796
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  • 2020 - 202637934
  • 2010 - 201953350
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  • 1990 - 199917663
  • 1980 - 19897837
  • 1970 - 19792296
  • 1960 - 1969221
  • 1955 - 19597
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  • PHYSICS LETTERS. SECTION B1056
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  • JOURNAL OF HIGH ENERGY PHYSICS608
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  • JOURNAL OF ENZYME INHIBITION AND MEDICINAL CHEMISTRY420
  • NUCLEAR INSTRUMENTS & METHODS IN PHYSICS RESEARCH. SECTION A, ACCELERATORS, SPECTROMETERS, DETECTORS AND ASSOCIATED EQUIPMENT405
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