Search results for "HEREDITARY"

Introduzione

2019

Si presenta la ricerca di Luisa Chifari e Ciro D'Arpa, che indaga gli inediti inventari della famiglia Branciforti e si compone di più parti comprendendo, oltre al volume, anche un mirato, ricco e articolato database Luisa Chifari and Ciro D'Arpa's research is presented, which investigates the brand-new inventories of the Branciforti family and is composed of several parts including, in addition to the volume, also a targeted, rich and articulated database

Eventi vascolari correlati ad alcune condizioni di iperviscosità sclerocitemica

2014

European Consensus for Gynecologycal and Obstetric Management of Women with Hereditary Angioedema due to C1-Inhibitor Deficiency (HAE): PREHAEAT

2007

Moderne Bildverarbeitungsverfahren als Unterstützung der räumlichen Rekonstruktion histologischer Strukturen

1994

Summary Spatial reconstruction of anatomic and histologic structures is of increasing importance in biological and medical research. A special kind of disease — hereditary opalescent dentine (HOD) — offered a good chance for the use of a comfortable image-analysis system (IBAS, Kontron) in combination with a special software for three-dimensional reconstruction. New aspects of the morphologic organisation of a key structure of HOD — the giant dentinal canals — could be shown, thus supporting the hypothesis of a vasal origin.

Hereditary gingival fibromatosis: Characteristics and treatment approach

2017

Hereditary gingival fibromatosis (HGF) is a rare disorder characterized by a benign, non-hemorrhagic, fibrous gingival overgrowth that can appear in isolation or as part of a syndrome. Clinically, a pink gingiva with marked stippling can be seen to cover almost all the tooth, in many cases preventing eruption. HGF usually begins during the transition from primary to permanent teeth, giving rise to a condition that can have negative psychological effects at that age. As it does not resolve spontaneously, the treatment of choice is gingivectomy, which can be performed with an internal or external bevel incision, depending on each case and bearing in mind the changes that will take place at th…

A numerical assessment of the free energy function for fractional-order relaxation

2014

In this paper a novel method based on complex eigenanalysis in the state variables domain is proposed to uncouple the set of rational order fractional differential equations governing the dynamics of multi-degree-of-freedom system. The traditional complex eigenanalysis is appropriately modified to be applicable to the coupled fractional differential equations. This is done by expanding the dimension of the problem and solving the system in the state variable domain. Examples of applications are given pertaining to multi-degree-of-freedom systems under both deterministic and stochastic loads.

Ankylosing spondylitis: an autoimmune or autoinflammatory disease?

2021

Ankylosing spondylitis (AS) is a chronic inflammatory disease with hallmarks of both autoimmune and autoinflammatory pathology. In this Review, the authors examine the evidence for both disease processes and aim to reconcile the two.Ankylosing spondylitis (AS) is a chronic inflammatory disorder of unknown aetiology. Unlike other systemic autoimmune diseases, in AS, the innate immune system has a dominant role characterized by aberrant activity of innate and innate-like immune cells, including gamma delta T cells, group 3 innate lymphoid cells, neutrophils, mucosal-associated invariant T cells and mast cells, at sites predisposed to the disease. The intestine is involved in disease manifesta…

Recombinant expression, in vitro refolding, and biophysical characterization of the N-terminal domain of T1R3 taste receptor

2012

Facteur d'impact (5 ans) : 1,617Notoriété à 2 ans : Acceptable (biochem.res.methods); The sweet taste receptor is a heterodimeric receptor composed of the T1R2 and T1R3 subunits, while T1R1 and T1R3 assemble to form the umami taste receptor. T1R receptors belong to the family of class C G-protein coupled receptors (GPCRs). In addition to a transmembrane heptahelical domain, class C GPCRs have a large extracellular N-terminal domain (NTD), which is the primary ligand-binding site. The T1R2 and T1R1 subunits have been shown to be responsible for ligand binding, via their NTDs. However, little is known about the contribution of T1R3-NTD to receptor functions. To enable biophysical characteriza…

Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.

2014

Objective: To clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathies. Methods: We screened for TRPV4 mutations in 169 French unrelated patients with inherited axonal peripheral neuropathy. Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal hereditary motor neuropathy, 14 with congenital spinal muscular atrophy and arthrogryposis, 13 with CMT2, and 8 with scapuloperoneal spinal muscular atrophy, presented with additional vocal cord paralysis and/or skeletal dysplasia. Results: No deleterious TRPV4 mutation was identified in the 95 patients with “pure” CMT2 (0/…

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…