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1

RELLA, VALERIA. "AMILOIDOSI CARDIACA ANALISI DI PREVALENZA IN DUE STUDI MULTICENTRICI ITALIANI." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2022. http://hdl.handle.net/10281/366496.

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Tra i pazienti con diagnosi iniziale di cardiomiopatia ipertrofica afferiti a Centri di Riferimento per le Cardiomiopatie, l’AC è la malattia non riconosciuta più comune con una prevalenza complessiva del 9%, e che aumenta con l'età (dall'1% nella fascia di età tra i 40-49 anni al 26% sopra gli 80 anni). Nella popolazione generale ≥55 anni più del 7% ha almeno un reperto ecocardiografico suggestivo di AC e l’ispessimento del setto interatriale è quello più frequente. I pazienti con elevato sospetto di AC (≥3 reperti) rappresentano l’1% della popolazione generale e il 4,9% di quelli con cuore n
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Lachira-Yparraguirre, Lizbeth, Ali Al-kassab-Córdova, Edgar Quispe-Silvestre, and Daniel Enriquez-Vera. "Cardiac amyloidosis secondary to waldenström macroglobulinemia." Editorial Ciencias Medicas, 2020. http://hdl.handle.net/10757/655705.

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Introduction: Waldenström's macroglobulinemia is a hematological neoplasm belonging to the group of monoclonal gammopathies, which includes systemic symptoms and those related to an increase in M paraprotein. Objective: To describe a case of cardiac amyloidosis associated with macroglobulinemia. Clinical case: Male patient who was admitted for asthenia, dysphonia, and who, during his evolution, developed progressive dyspnea, heart failure and pleural effusion. Additionally, echocardiography showed myocardial granular pattern, while pleural biopsy was positive for Congo red staining. Subsequent
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Arvidsson, Sandra. "Cardiac function in hereditary transthyretin amyloidosis : an echocardiographic study." Doctoral thesis, Umeå universitet, Institutionen för folkhälsa och klinisk medicin, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-113891.

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Background: Hereditary transthyretin amyloidosis (ATTR) is a lethal disease in which misfolded transthyretin (TTR) proteins accumulate as insoluble aggregates in tissues throughout the body. A common mutation is the exchange of valine to methionine at place 30 (TTR V30M), a form endemically found in the northern parts of Sweden. The main treatment option for ATTR amyloidosis is liver transplantation as the procedure halts production of mutated transthyretin. The disease is associated with marked phenotypic diversity ranging from predominant cardiac complications to pure neuropathy. Two differe
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Dungu, Jason N. "Cardiac transthyretin amyloidosis in the British African and Caribbean population." Thesis, St George's, University of London, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.676103.

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Cardiac amyloidosis is a condition characterised by infiltration of the myocardium with fibrillar proteins. Transthyretin (TTR) is a plasma protein that may form amyloid fibrils and the V122I mutant form of TTR is associated with isolated cardiac amyloidosis. Previous studies have estimated a 4% V122I allele frequency in African Americans. The prevalence of cardiac transthyretin amyloidosis (ATTR) V122I in the British population is not known. I was awarded a British Heart Foundation Clinical Research Fellowship to investigate the diagnosis and prevalence of ATTR V122I in the UK population. Mor
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Rausch, Karen. "Application of left atrial strain assessment by 2D echocardiography in cardiac conditions involving the left atrium including cardiac amyloidosis." Thesis, Griffith University, 2020. http://hdl.handle.net/10072/400573.

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The left atrium (LA) plays an important role in the modulation of LV filling and contributes to LV stroke volume with atrial contraction. Despite this important role, much research to date has been focused on the ventricles in disease, rather than the atria. In recent years there has been increasing interest and excitement in the function of the LA in normal and disease states – no longer is the LA secondary to the left ventricle (LV). The LA has three major functions: reservoir, conduit and contractile. The LA acts as a reservoir during ventricular systole as it fills with blood via the pulmo
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Pilebro, Björn. "The heart in hereditary transthyretin amyloidosis : clinical studies on the impact of amyloid fibril composition." Doctoral thesis, Umeå universitet, Medicin, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-139495.

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Background Hereditary transthyretin amyloid (ATTRm) amyloidosis is a systemic disease mainly affecting the peripheral nervous system and the heart. The disease is inherited in an autosomal dominant manner with a varying penetrance. It is caused by mutations in the transthyretin (TTR) gene. Today more than 100 disease causing mutations are known. The V30M mutation that is endemic in northern Sweden is the best studied and comprises the majority of the reported disease cases in the world. In ATTRm amyloidosis caused by the V30M mutation two distinct sub populations are seen, one with disease ons
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Hörnsten, Rolf. "Cardiac arrhythmias and heart rate variability in familial amyloidotic polyneuropathy : a clinical study before and after liver transplantation /." Umeå : Univ, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1407.

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Hörnsten, Rolf. "Cardiac arrhythmias and heart rate variability in familial amyloidotic polyneuropathy : A clinical study before and after liver transplantation." Doctoral thesis, Umeå universitet, Kirurgisk och perioperativ vetenskap, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1407.

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Familial amyloidotic polyneuropathy (FAP), found in the northernmost counties in Sweden, is a rare, lethal and inherited amyloidosis. The disease is caused by mutated transthyretin (TTR). The mutation is characterized by an exchange of valine for methionine at position 30 (ATTRVal30Met). FAP is characterised by progressive polyneuropathy affecting both the peripheral and autonomic nervous system (ANS). Cardiac arrhythmia and autonomic disturbances are common as well as gastrointestinal symptoms: such as constipation and diarrhoea. Today, orthotopic liver transplantation (LTx) is the only treat
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Damerjian, Vera. "La caractérisation du speckle sur des images échocardiographiques afin de définir des indices diagnostiques de l'amylose cardiaque et personnaliser un modèle numérique du coeur." Thesis, Paris Est, 2016. http://www.theses.fr/2016PESC1035.

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L’Hypertrophie Ventriculaire Gauche (HVG) est actuellement mise en évidence par échographie. Cet examen fournit des informations anatomo-fonctionnelles mais ne permet pas de déterminer l’étiologie des HVG, ce qui engendre de graves erreurs de diagnostic et de prise en charge thérapeutique. Les HVG sont classiquement séparées en 2 catégories :1. pathologies hypertrophiques induites par la modification structurelle et fonctionnelle des cardiomyocites qui tend à compenser des insuffisances cardiaques liées par exemple à des problèmes d’hypertension artérielle, de rétrécissement aortique ou de Car
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10

Nokwe, Nkumbe Cardine [Verfasser], Johannes [Akademischer Betreuer] [Gutachter] Buchner, and Bernd [Gutachter] Reif. "Molecular determinants and mechanisms of antibody light chain (AL) amyloidosis / Cardine Nokwe Nkumbe ; Gutachter: Bernd Reif, Johannes Buchner ; Betreuer: Johannes Buchner." München : Universitätsbibliothek der TU München, 2014. http://d-nb.info/1122738293/34.

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11

Dias, Francisco Pinto. "Transthyretin Cardiac Amyloidosis - novel and emerging treatments." Master's thesis, 2021. https://hdl.handle.net/10216/134566.

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A amiloidose cardíaca por transtirretina era até recentemente considerada uma doença intratável. Contudo, esta patologia sub-diagnosticada viu um aumento do interesse na investigação com múltiplos novos tratamentos, incluindo os primeiros fármacos de algumas classes, a aproximarem-se rapidamente das fases finais de investigação, com o tafamidis e o patisiran já aprovados pelos reguladores Europeu e Americano. Os novos fármacos incluem pequenas moléculas estabilizadoras, fármacos silenciadores do gene, disruptores das fibras amilóides e anticorpos monoclonais. Esta revisão pretende reunir as op
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Dias, Francisco Pinto. "Transthyretin Cardiac Amyloidosis - novel and emerging treatments." Dissertação, 2021. https://hdl.handle.net/10216/134566.

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A amiloidose cardíaca por transtirretina era até recentemente considerada uma doença intratável. Contudo, esta patologia sub-diagnosticada viu um aumento do interesse na investigação com múltiplos novos tratamentos, incluindo os primeiros fármacos de algumas classes, a aproximarem-se rapidamente das fases finais de investigação, com o tafamidis e o patisiran já aprovados pelos reguladores Europeu e Americano. Os novos fármacos incluem pequenas moléculas estabilizadoras, fármacos silenciadores do gene, disruptores das fibras amilóides e anticorpos monoclonais. Esta revisão pretende reunir as op
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13

Snyder, Christina AnnaMarie. "Pathogenesis of light chain-induced dysfunction in cardiac amyloidosis." Thesis, 2014. https://hdl.handle.net/2144/14695.

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Although a rare disease, light chain (LC) amyloidosis (AL) is the most common systemic amyloidosis in developed countries. It is caused by an overproduction of immunoglobulin LC proteins in bone marrow plasma cells. In AL amyloidosis, LCs that are prone to misfolding and insolubility will aggregate, form fibrils, and deposit themselves in various tissues, thereby causing organ dysfunction. The most fatal manifestation of AL amyloidosis is associated with cardiac involvement, defined by the presence of extracellular AL amyloid deposits within the heart. Cardiac amyloid infiltration typicall
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14

Neto, Antonio Marcelo Correia Sousa. "A Medicina Nuclear no diagnóstico e prognóstico da Amiloidose Cardíaca por Transtirretina - Revisão." Master's thesis, 2019. http://hdl.handle.net/10316/89888.

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Trabalho Final do Mestrado Integrado em Medicina apresentado à Faculdade de Medicina<br>A amiloidose por depósito de transtirretina (ATTR) é cada vez mais reconhecida como causa importante de insuficiência cardíaca com fração de ejeção preservada. Com o advento de terapêutica farmacológica dirigida, a necessidade de testes de diagnóstico não invasivos capazes de distinguir ATTR de outros tipos de amiloidose tornou-se clara. Evidência crescente tem vindo a demonstrar que a imagiologia em medicina nuclear, particularmente com bifosfonatos, tem potencial neste contexto. O objetivo desta revisão s
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Teixeira, Cristina Alexandra Pereira. "The contribution of an animal model for the pathogenetic characterization and therapeutic approaches in ATTR cardiac amyloidosis." Doctoral thesis, 2021. https://hdl.handle.net/10216/133876.

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Teixeira, Cristina Alexandra Pereira. "The contribution of an animal model for the pathogenetic characterization and therapeutic approaches in ATTR cardiac amyloidosis." Tese, 2021. https://hdl.handle.net/10216/133876.

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17

Borkowski, Philip. "Insights into atrial function using speckle tracking strain: report of a new, modified method." Thesis, 2014. https://hdl.handle.net/2144/15052.

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Speckle tracking echocardiography (STE) is a relatively new imaging modality that enables the direct measurement of active contractile myocardial tissue in an offline analysis. This is accomplished through a software algorithm that tracks collections of acoustic markers, known as 'speckles', that are unique to a given section of myocardium. By measuring the displacement of these 'speckles' as the heart contracts and relaxes, STE produces parameters of the strain, or percent change in length, exhibited by the myocardium. As multiple studies have shown, this strain data produced by tracking of t
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18

Fikrle, Michal. "Využití moderních metod echokardiografie a magnetické rezonance v diagnostice srdeční amyloidózy." Doctoral thesis, 2020. http://www.nusl.cz/ntk/nusl-415764.

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Amyloidosis is a term used for a whole group of diseases caused by deposition of a substance called amyloid into different tissues. Amyloid may be produced by a range of pathologic processes. Heart affliction is typical for only several types of amyloidoses. Heart involvement is then the patient`s prognosis major limiting factor. Diagnosis of heart amyloidosis is difficult especially for nonspecific symptoms and nonspecific findings obtained during common diagnostic procedures. The aim of this thesis was to evaluate usefulness of novel diagnostic methods, namely cardiac magnetic resonance with
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