Search results for "Amyloidosi"

Imaging P-Glycoprotein Induction at the Blood–Brain Barrier of a β-Amyloidosis Mouse Model with 11C-Metoclopramide PET

2019

P-glycoprotein (ABC subfamily B member 1, ABCB1) plays an important role at the blood–brain barrier (BBB) in promoting clearance of neurotoxic β-amyloid (Aβ) peptides from the brain into the blood. ABCB1 expression and activity were found to be decreased in the brains of Alzheimer disease patients. Treatment with drugs that induce cerebral ABCB1 activity may be a promising approach to delay the build-up of Aβ deposits in the brain by enhancing clearance of Aβ peptides from the brain. The aim of this study was to investigate whether PET with the weak ABCB1 substrate radiotracer 11C-metoclopramide can measure ABCB1 induction at the BBB in a β-amyloidosis mouse model (APP/PS1-21 mice) and in w…

Human apolipoprotein A-I natural variants: molecular mechanisms underlying amyloidogenic propensity

2012

Human apolipoprotein A-I (apoA-I)-derived amyloidosis can present with either wild-type (Wt) protein deposits in atherosclerotic plaques or as a hereditary form in which apoA-I variants deposit causing multiple organ failure. More than 15 single amino acid replacement amyloidogenic apoA-I variants have been described, but the molecular mechanisms involved in amyloid-associated pathology remain largely unknown. Here, we have investigated by fluorescence and biochemical approaches the stabilities and propensities to aggregate of two disease-associated apoA-I variants, apoA-IGly26Arg, associated with polyneuropathy and kidney dysfunction, and apoA-ILys107-0, implicated in amyloidosis in severe…

Left ventricular hypertrophy or storage disease? the incremental value of speckle tracking strain bull's-eye

2017

Left ventricular hypertrophy (LVH) develops in response to a variety of physical, genetic, and biochemical stimuli and represents the early stage of ventricular remodeling. In patients with LVH, subclinical left ventricular (LV) dysfunction despite normal ejection fraction (EF) may be present before the onset of symptoms, which portends a dismal prognosis. Strain measurement with two-dimensional speckle tracking echocardiography (STE) represents a highly reproducible and accurate alternative to LVEF determination. The present review focuses on current available evidence that supports the incremental value of STE in the diagnostic and prognostic workup of LVH. When assessing the components o…

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…

The Influence of Immunoglobulin Light chain Variable Gene Usage on Cardiac Function, Hematological Response, and Survival in Patients with Systemic L…

2011

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…

Laryngeal amyloidosis

2020

Laryngeal amyloidosis is a rare and idiopathic disease that represents about 1% of all benign laryngeal lesions. It is characterized by the extracellular deposition of an abnormal amount of non-soluble fibrillar proteins in larynx. This disease presents unspecific symptoms and laringoscopic findings that make difficult to diagnose it. Management of these lesions consists of endoscopic resection of the mass through microdirect laryngoscopy. Recurrence is possible and it can occur up to 10 years after treatment; therefore a close and long-term follow-up is requested. A 60-year-old man presented with hoarseness and dysphonia. Laryngoscopy revealed a smooth, translucent and yellowish formation …

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…

α-Synuclein expression levels do not significantly affect proteasome function and expression in mice and stably transfected PC12 cell lines

2004

α-Synuclein (α-syn) is a small protein of unknown function that is found aggregated in Lewy bodies, the histopathological hallmark of sporadic Parkinson disease and other synucleinopathies. Mutations in the α-syn gene and a triplication of its gene locus have been identified in early onset familial Parkinson disease. α-Syn turnover can be mediated by the proteasome pathway. A survey of published data may lead to the suggestion that overexpression of α-syn wild type, and/or their variants (A53T and A30P), may produce a decrease in proteasome activity and function, contributing to α-syn aggregation. To investigate the relationship between synuclein expression and proteasome function we have s…