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Rare and hereditary disorders
Hereditary ATTR amyloidosis
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Publications and studies (1285)
- Widespread Impact of Natural Genetic Variations in CRISPR-Cas9 Outcomes. (2024/10/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Transthyretin amyloidosis cardiomyopathy in Greece: Clinical insights from the National Referral Center. (2024/09/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prevalence of transthyretin amyloidosis in patients undergoing carpal tunnel surgery: a prospective cohort study and risk factor analysis. (2024/09/01) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Effect of Eplontersen on Cardiac Structure and Function in Patients With Hereditary Transthyretin Amyloidosis. (2024/08/01) ♡
- Characteristics of Carpal Tunnel Syndrome in Wild-Type Transthyretin Amyloidosis. (2024/07/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Exercise Training and Rehabilitation in Cardiac Amyloidosis (ERICA) Study: Rationale and Design. (2024/07/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Hereditary transthyretin cardiac amyloidosis proven by endomyocardial biopsy: a single-centre retrospective study and literature review. (2024/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Gluteus Medius Muscle Biopsy to Confirm Amyloid Transthyretin Deposition in Wild-type Transthyretin Cardiac Amyloidosis: A Report of Two Cases. (2024/06/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Diagnosing transthyretin amyloidosis in patients with known genetic cardiomyopathies - opportunities and open questions. (2024/06/01) ♡
- EstimATTR: A Simplified, Machine-Learning-Based Tool to Predict the Risk of Wild-Type Transthyretin Amyloid Cardiomyopathy. (2024/06/01) ♡
- Longitudinal evolution of ventricular function and cardiac magnetic resonance imaging tissue characteristics in tafamidis-treated transthyretin amyloid cardiomyopathy. (2024/06/01) ♡
- Neurofilament light chain kinetics as a biomarker for polyneuropathy in V122I hereditary transthyretin amyloidosis. (2024/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dual AApoAIV amyloidosis and ATTR amyloidosis arising in the same patient: a report of three cases. (2024/06/01) ♡
- Identification and management of gastrointestinal manifestations of hereditary transthyretin amyloidosis: Recommendations from an Italian group of experts. (2024/06/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Cardiac Amyloidosis Registry Study (CARS): Rationale, Design and Methodology. (2024/05/01) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Diagnostic Sensitivity of Abdominal Fat Aspiration Biopsy for Cardiac Amyloidosis: A Systematic Review and Meta-Analysis. (2024/04/01) ♡
- Heterogenous electrophysiological features in early stage of hereditary transthyretin amyloidosis neuropathy. (2024/04/01) ♡
- Early detection of nerve involvement in presymptomatic TTR mutation carriers: exploring potential markers of disease onset. (2024/04/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Diagnosis of transthyretin amyloidosis in patients with established cardiomyopathy. (2024/04/01) ♡
- Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Musculoskeletal co-morbidities in patients with transthyretin amyloid cardiomyopathy: a systematic review. (2024/04/01) ♡
- Real-life experience with inotersen at CEPARM, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro. (2024/04/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Hepatic and cardiac shear wave elastography in the assessment of hereditary transthyretin amyloidosis. (2024/03/22) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Clinical differences between transthyretin cardiac amyloidosis and hypertensive heart disease. (2024/03/08) ♡
- Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Treatment response and neurofilament light chain levels with long-term patisiran in hereditary transthyretin-mediated amyloidosis with polyneuropathy: 24-month results of an open-label extension study. (2024/03/01) ♡
- Diagnostic and prognostic contribution of DPD scintigraphy in transthyretin V30M cardiac amyloidosis. (2024/03/01) ♡
- Reduction in (99m)Tc-DPD myocardial uptake with therapy of ATTR cardiomyopathy. (2024/03/01) ♡
- Inappropriate use of technetium-99m pyrophosphate scanning for the evaluation of transthyretin amyloidosis. (2024/03/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. The electrocardiographic signature of variant transthyretin amyloidosis. (2024/03/01) ♡
- Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study. (2024/03/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Clinical characteristics and prognostic implications of orthopedic ligament disorders in patients with wild-type transthyretin amyloidosis cardiomyopathy. (2024/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Biochemical and biophysical properties of a rare TTRA81V mutation causing mild transthyretin amyloid cardiomyopathy. (2024/02/01) ♡
- Cardiac [(99m)Tc]Tc-hydroxydiphosphonate uptake on bone scintigraphy in patients with hereditary transthyretin amyloidosis: an early follow-up marker? (2024/02/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Emerging Strategies for Immunotherapy of Solid Tumors Using Lipid-Based Nanoparticles. (2024/02/01) ♡
- Epidemiological study of the subtype frequency of systemic amyloidosis listed in the Annual of the Pathological Autopsy Cases in Japan. (2024/02/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Current and Evolving Multimodality Cardiac Imaging in Managing Transthyretin Amyloid Cardiomyopathy. (2024/02/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Generation of two induced pluripotent stem cell lines from hereditary amyloidosis patients with polyneuropathy carrying heterozygous transthyretin (TTR) mutation. (2024/02/01) ♡
- Silencing of ocular transthyretin, a gene responsible for hereditary transthyretin amyloidosis, by intravitreal injection of an siRNA conjugate into rabbit eyes. (2024/01/29) ♡
- OCT angiography indices and the choroidal vascularity index in wild-type transthyretin (TTR) amyloidosis (ATTRwt). (2024/01/15) ♡
- Serum neurofilament light chain: a promising early diagnostic biomarker for hereditary transthyretin amyloidosis? (2024/01/01) ♡
- Genetic screening for hereditary transthyretin amyloidosis with polyneuropathy in western Sicily: Two years of experience in a neurological clinic. (2024/01/01) ♡
- Drug Repositioning for Amyloid Transthyretin Amyloidosis by Interactome Network Corrected by Graph Neural Networks and Transcriptome Analysis. (2024/01/01) ♡
- Nerve pathology of microangiopathy and thromboinflammation in hereditary transthyretin amyloidosis. (2024/01/01) ♡
- Correlation between a commercial electrophysiological test of sudomotor function and intraepidermal nerve fiber density in hereditary transthyretin amyloidosis. (2024/01/01) ♡
- Characterization of the G-quadruplexes in the transthyretin gene and its role in silencing transthyretin mRNA transcription. (2024/01/01) ♡
- Prevalence of transthyretin cardiac amyloidosis in patients hospitalized for heart failure with preserved ejection fraction and septal thickness. (2024/01/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. What's new in cardiac amyloidosis? Pharmacological treatment, physical activity, and care of patients with transthyretin cardiac amyloidosis. (2024/01/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Amyloidosis and the Syncopal Enigma. (2024/01/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. AI-enabled Screening and Diagnosis of Cardiomyopathies Using Coronary CTA (2024-12-27) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. NEURO-TTRansform: A Study to Evaluate the Efficacy and Safety of Eplontersen (Formerly Known as ION-682884, IONIS-TTR-LRx and AKCEA-TTR-LRx) in Participants With Hereditary Transthyretin-Mediated Amyloid Polyneuropathy (2024-12-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Prevalence and Prediction of ATTR in Ambulatory Patients With HFpEF (2024-12-09) ♡
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