Search results for " amyloidosis."

DesMol2, an Effective Tool for the Construction of Molecular Libraries and Its Application to QSAR Using Molecular Topology

2019

A web application, DesMol2, which offers two main functionalities, is presented: the construction of molecular libraries and the calculation of topological indices. These functionalities are explained through a practical example of research of active molecules to the formylpeptide receptor (FPR), a receptor associated with chronic inflammation in systemic amyloidosis and Alzheimer&rsquo

Transthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area

2015

Abstract Background: Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among patients with late- and early-onset has been reported. Objective: To present a detailed report of TTR-FAP patients diagnosed in our tertiary neuromuscular center, in a 20-year period. Methods: Clinical informations were gathered through the database of our center. Results: The study involve…

Comparison of Right Ventricular Longitudinal Strain Imaging, Tricuspid Annular Plane Systolic Excursion, and Cardiac Biomarkers for Early Diagnosis o…

2010

Objectives: The aim was to determine the role of assessing right ventricular (RV) function, using standard echocardiography and Doppler myocardial imaging (DMI), in the early diagnosis of cardiac amyloidosis (CA) and in prediction of mortality. Methods: A total of 249 patients with AL amyloidosis were categorized on the basis of left ventricular thickness and E' velocity, and compared to 38 age- and sex-matched controls. Standard echocardiographic parameters of RV function were assessed, and longitudinal systolic myocardial velocity, strain rate (sSR), and strain (sS) were determined for the basal and middle RV free wall segments. Patients were followed for the endpoint of mortality. Result…

Familial amyloidosis: great progress for an orphan disease.

2015

Familial amyloidosis: Great progress for an orphan disease Ana Paula Barreiros1,2,*, Gerd Otto3, Bita Kahlen1, Andreas Teufel1,2, Peter R. Galle1 1Department of Internal Medicine I, Universitatsmedizin of the Johannes Gutenberg-University Mainz, Germany; 2Department of Internal Medicine I, Universitatsklinikum of the University Regensburg, Germany; 3Department of Hepatobiliary and Transplantation Surgery, Universitatmedizin of the Johannes Gutenberg-University Mainz, Germany. *Corresponding author. Address: Universitatsklinikum Regensburg, Department of Internal Medicine I, Franz-Josef-Strauss Allee 11, 93053 Regensburg, Germany. Tel.: +49 941-944-7021. E-mail address: Ana.Barreiros@ukr.de …

Use of drugs for attrv amyloidosis in the real world: How therapy is changing survival in a non-endemic area

2021

Background: Over the past decade, three new drugs have been approved for the treatment of hereditary amyloid transthyretin (ATTRv) polyneuropathy. The aim of this work was to analyze whether current therapies prolong survival for patients affected by ATTRv amyloidosis. Methods: The study was conducted retrospectively, analyzing the medical records of 105 patients with genetic diagnoses of familial amyloidotic polyneuropathy followed at the two referral centers for the disease in Sicily, Italy. Of these, 71 received disease-modifying therapy, while 34 received only symptomatic treatment or no therapy. Results: The most used treatment in our patient cohort was tafamidis, followed by liver tra…

Early detection of amyloid light-chain amyloidosis: a case report of oral primary manifestation

2018

Effectiveness and Safety of Oral Anticoagulants in Cardiac Amyloidosis: Lights and Shadows

2022

Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy characterized by extracellular deposition of mis-folded proteins called amyloid. Cardiac complications of CA are several: heart failure, aortic valve stenosis, thromboembolism, conduction disorders, atrial fibrillation, and ventricular arrhythmias. Atrial dysfunction is common in CA patients. Several evidences suggest to anticoagulated patients with CA in atrial fibrillation independently from CHA2DS2VaSC score. Considering the high thromboembolic risk in CA patients, anticoagulant therapy should be considered also in CA patients in sinus rhythm, when the atria are enlarged and dysfunctional, and the bleeding risk is low. Unfortunat…

Utility of Doppler myocardial imaging, cardiac biomarkers, and clonal immunoglobulin genes to assess left ventricular performance and stratify risk f…

2011

INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry

2021

Contains fulltext : 231528.pdf (Publisher’s version ) (Closed access) BACKGROUND: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are lacking. OBJECTIVE: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) classification and Eurofever criteria, with treatment responses. METHODS: Data from 226 patients with variants of the TNFRSF1A gene and enrolled in the Eurofever registry were classified according to the INSAID classifica…

Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses.

2012

Fibrinogen A α-chain (AFib) and apolipoprotein AI (AApoAI) amyloidosis due to variants in the AFib and ApoAI genes are the most common types of hereditary amyloidosis in Europe and the United States. Liver is the exclusive source of the aberrant amyloidogenic protein in AFib and responsible for supplying approximately half of the circulating variant ApoAI. Nephrotic syndrome and renal impairment due to renal amyloidosis are common disease manifestations; however, recent research provides evidence to support a more diverse and systemic disease phenotype, which in turn has implications in the management of the hereditary amyloidoses with solid organ transplantation and, in particular, liver t…