Search results for " amyloid"
showing 10 items of 130 documents
Patisiran Enhances Muscle Mass after Nine Months of Treatment in ATTRv Amyloidosis: A Study with Bioelectrical Impedance Analysis and Handgrip Streng…
2022
Background and aims. Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. The clinical phenotype is heterogeneous, characterized by a multisystemic disease affecting the sensorimotor, autonomic functions along with other organs. Patisiran is a small interfering RNA acting as a TTR silencer approved for the treatment of ATTRv. Punctual and detailed instrumental biomarkers are on demand for ATTRv to measure the severity of the disease and monitor progression and response to treatment. Methods. Fifteen patients affected by ATTRv amyloidosis (66.4 ± 7.8 years, six males) …
3D MICROSIZED PROTEIN AMYLOID PARTICULATES AS EFFECTIVE BIOADSORBERS FOR Pb2+ IONS
The production of new cost-effective biocompatible sorbent sustainable materials, with natural origins, able to remove heavy metals from water resources is nowadays highly desirable in order to reduce pollution and increase clean water availability. In this context, self-assembled protein materials with highly ordered amyloid structures, stabilised by H-bonds, seems to have a great potential as natural platform for a broader development of highly-tunable structures. By suitably varying solution conditions it is possible to tune aggregate size, surface area and morphologies as well as their physicochemical (hydrophobicity, hydrophilicity, swelling/deswelling properties) and mechanical proper…
Machine Learning for Early Diagnosis of ATTRv Amyloidosis in Non-Endemic Areas: A Multicenter Study from Italy
2023
Background: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is an adult-onset multisystemic disease, affecting the peripheral nerves, heart, gastrointestinal tract, eyes, and kidneys. Nowadays, several treatment options are available; thus, avoiding misdiagnosis is crucial to starting therapy in early disease stages. However, clinical diagnosis may be difficult, as the disease may present with unspecific symptoms and signs. We hypothesize that the diagnostic process may benefit from the use of machine learning (ML). Methods: 397 patients referring to neuromuscular clinics in 4 centers from the south of Italy with neuropathy and at least 1 more red flag, as well as undergoin…
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…
Cross-Sectional Associations between HDL Structure or Function, Cell Membrane Fatty Acid Composition, and Inflammation in Elderly Adults.
2022
Background Cell membrane fatty acid composition has been related to inflammation and cardiovascular risk. Dysregulation of HDL functionis also considered a cardiovascular risk factor. Objective We aimed to investigate whether the content of cell membrane fatty acids and HDL functionality are linked to each other as well as to inflammation. Methods This cross-sectional analysis involved 259 participants (67.9 y) with overweight/obesity (body mass index 29.5 kg/m2) from a coronary heart disease case-control study nested within the PREDIMED trial for which HDL functional parameters (Apolipoproteins (Apo) A-1, A-IV and C-III, cholesterol efflux capacity (CEC), HDL oxidative inflammatory index (…
Cardiovascular outcomes after cardiac resynchronization therapy in cardiac amyloidosis
2021
Abstract Aims Cardiac resynchronization therapy (CRT) is highly effective in dilated cardiomyopathy (DCM) patients with impaired left ventricular ejection fraction (LVEF) and left bundle block branch. In cardiac amyloidosis (CA) patients, left ventricular dysfunction and conduction defects are common, but the potential of CRT to improve cardiac remodelling and survival in this particular setting remains undefined. We investigated cardiovascular outcomes in CA patients after CRT implantation in terms of CRT echocardiographic response and major cardiovascular events (MACEs). Methods and results Our retrospective study included 47 CA patients implanted with CRT devices from January 2012 to Feb…
Chemical heterogeneity of amyloid in the carpal tunnel syndrome
1987
140 biopsies from 108 patients afflicted with the carpal tunnel syndrome were studied, 27 of whom showed deposition of amyloid, in 6 of them to such an extent that the amyloid was considered significant in the pathogenesis of the carpal tunnel syndrome. Morphologically, vessels and ligaments were affected and especially the peritendinous structures. As it was always part of generalized amyloidosis, the amyloid in the carpal tunnel consisted immunohistologically of amyloid A in three cases (including one case with simultaneous amyloid deposition of the AA- and the AB-type), of amyloid A kappa in one case, of amyloid of prealbumin origin in seventeen cases and of AB-amyloid in eight cases. We…