A5026377291- Amyloidosis: Diagnosis, Treatment, Outcomes
- Dermatological and Skeletal Disorders
- Parathyroid Disorders and Treatments
- Eosinophilic Disorders and Syndromes
- Cellular transport and secretion
- Sarcoidosis and Beryllium Toxicity Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Peptidase Inhibition and Analysis
- Peripheral Neuropathies and Disorders
- Skin and Cellular Biology Research
- Pancreatitis Pathology and Treatment
- Venomous Animal Envenomation and Studies
- Cardiac Imaging and Diagnostics
- Thyroid Cancer Diagnosis and Treatment
- Ion channel regulation and function
- Hereditary Neurological Disorders
- Macrophage Migration Inhibitory Factor
- Head and Neck Anomalies
- Renal Diseases and Glomerulopathies
- Pneumocystis jirovecii pneumonia detection and treatment
- IgG4-Related and Inflammatory Diseases
- GDF15 and Related Biomarkers
- Endoplasmic Reticulum Stress and Disease
- Global Cancer Incidence and Screening
- Medical Imaging and Pathology Studies
Università Cattolica del Sacro Cuore
2020-2025
Agostino Gemelli University Polyclinic
2020-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2021-2023
Sapienza University of Rome
2017
Azienda Ospedaliera Citta' della Salute e della Scienza di Torino
2015
Azienda Ospedaliero Universitaria San Giovanni Battista
2012
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a severe, autosomal dominant disease resulting from multisystemic extracellular deposition of amyloid fibrils, leading to progressive organ damage and death. Sudoscan reproducible tool investigating sweat gland function and, indirectly, small nerve fiber impairment. The aim this study was evaluate any changes over time in electrochemical skin conductance (ESC) measured by cohort late-onset patients with ATTRv single Italian center....
The new Italian cytological classification (2014) of thyroid nodules replaced the TIR3 category old (2007) with two subclasses, TIR3A and TIR3B, aim reducing rate surgery for benign diseases. Moreover, imaging reporting data system (TI-RADS) score appears to ameliorate stratification malignancy risk. We evaluated whether has improved diagnostic accuracy its association TI-RADS could improve prediction. retrospectively analyzed 70 from patients classified as according who underwent...
Objective: Hereditary transthyretin amyloidosis (ATTRv) represents a diagnostic challenge considering the great variability of clinical presentation and multiorgan involvement. In present study, we report prevalence kidney involvement function over time in cohort ATTRv patients with different gene mutations. Patients Methods: For this systematically collected data from all diagnosis followed at Neurology Unit Fondazione Policlinico Universitario A. Gemelli IRCCS. Kidney was defined as...
Hereditary transthyretin (ATTRv; v for variant) amyloidosis, also known as hATTR is a progressive and fatal disease associated with rapid deterioration of physical function patients' quality life (QOL). Vutrisiran, subcutaneously administered RNA interference (RNAi) therapeutic that reduces hepatic production transthyretin, was assessed in patients ATTRv amyloidosis polyneuropathy the pivotal HELIOS-A study.The phase 3 open-label study investigated efficacy safety vutrisiran polyneuropathy,...
Abstract Background Hereditary transthyretin amyloidosis (ATTRv) is a rare disorder caused by pathogenic TTR gene variants. Glial fibrillary acidic protein (GFAP) and neurofilament light chain (NfL) are potential biomarkers for astrocyte activation neuroaxonal damage, respectively. This study investigates serum GFAP (sGFAP) NfL (sNfL) levels in ATTRv patients, pre-symptomatic subjects, healthy controls (HCs) to evaluate their utility as of disease progression CNS involvement. Methods Our...
Hereditary transthyretin (ATTRv, v for variant) amyloidosis with polyneuropathy is a rare disease caused by mutations in the gene. In ATTRv amyloidosis, multisystem extracellular deposits of amyloid cause tissue and organ dysfunction. Patisiran small interfering RNA molecule drug that reduces circulating levels mutant wild-type TTR proteins. Prior to its regulatory approval, patisiran was available Italy through compassionate use programme (CUP). The aim this study analyse long-term outcomes...
Hereditary transthyretin (ATTRv) amyloidosis represents a diagnostic challenge considering the great variability in clinical presentation and multiorgan involvement. In this study we report prevalence of gastrointestinal (GI) involvement patients with hereditary ATTRv from one single center Italy, non-endemic area.We retrospectively analyzed cohort 39 followed at Neurology Unit Fondazione Policlinico Universitario A. Gemelli IRCCS Rome, Italy. All had documented mutation gene encoding...
Abstract Background Recent evidence suggests that both serum neurofilament light chain (sNfL) levels and small fiber related diagnostic variables may be valuable disease biomarkers of hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). Our study aimed to explore the relations between sNfL skin biopsy quantitative sensory testing (QST) parameters in a cohort ATTRv-PN patients pre-symptomatic carriers. Methods We retrospectively analyzed data from 13 ATTRv 21 carriers who...
Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset, progressive, multisystemic condition caused by TTR pathogenic variants. Reliable biomarkers are needed to allow early diagnosis and monitor disease severity progression. We measured serum concentrations of growth differentiation factor-15 (GDF-15) uromodulin (Umod) in ATTRv patients evaluate correlations with standard markers (FAP stage PND score). Blood samples were collected from 16 diagnosed verified variant 26 healthy...
Hereditary transthyretin amyloidosis (ATTRv, v for variant) prevalence in Italy, a non-endemic region, has been established by ATTRv Italian Registry. However, values of were extremely heterogeneous, considering different regions. To properly establish the disease Lazio survey was sent to university regional hospitals and main hospitals, order collect all affected patients regularly followed. We identified 100 and, population 5.8/million, we estimated 17.2/million. The Registry reported...
Hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN) presymptomatic carriers often show preclinical abnormalities at small fiber-related diagnostic tests. However, no validated biomarker is currently available to use for carriers' follow-up, thus helping therapeutic decision making. Our study aimed assessing nerve conduction (NCS), quantitative sensory testing (QST), and skin biopsy parameters in a large cohort of late-onset ATTRv evaluate whether they correlated with predicted age...
Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is a heterogeneous, progressive, multisystemic disease with life-threatening course if left untreated. Given the current availability of effective therapies, close follow-up presymptomatic TTR mutation carriers essential to recognize onset at earliest sign. In addition routine techniques, in recent years several novel tools have been proposed, although consensus on their use has not reached yet. this paper, we aimed evaluate...
Hereditary amyloidosis associated with mutations in the transthyretin gene (hATTR) is a progressive devastating disease, fatal outcome occurring within 10years after onset. In recent years, TTR silencing therapy appeared as promising therapeutic strategy, showing evidence that disease progression can be slowed and perhaps reversed. We report here 18 subjects affected by hATTR treated patisiran, small interfering RNA acting silencer, evaluated PND score, NIS NIS-LL scale, Norfolk QOL-DN...
Hereditary transthyretin amyloidosis (ATTRv) is a rare, debilitating and fatal disease, mostly characterized by progressive axonal peripheral neuropathy. Diagnosis still challenging diagnostic delay in non-endemic area about 3-4 years. The aim of this study was to arrange clinical electrophysiological score select patients with neuropathy that deserve screening for TTR mutation.Thirty-five ATTRv 55 chronic idiopathic polyneuropathy (CIAP) were retrospectively analyzed. Clinical findings at...
Hereditary transthyretin amyloidosis (ATTRv; v for "variant") is the most common form of hereditary amyloidosis, with an autosomal dominant inheritance and a variable penetrance. This disease has significant variability in clinical presentation multiorgan involvement. While kidney involvement early-onset ATTRv been reported one-third patients, late-onset it generally considered rare. In present study, we describe trajectories function over time before after treatment gene silencing therapies...
Hereditary transthyretin (ATTRv) amyloidosis is a severe, progressive, and heterogeneous multisystemic condition due to mutations in the TTR gene. Although multiple aspects of its molecular pathophysiological mechanisms have been elucidated over years, it possible hypothesize different pathogenetic pathways. Indeed, we extensively investigated serum levels several molecules involved immune response, cohort ATTRv patients healthy controls (HCs). Sixteen twenty-five HCs were included study....
Hereditary transthyretin amyloidosis is the most common form of hereditary amyloidosis, with an autosomal dominant inheritance and a variable penetrance. ATTRv can present as progressive, axonal sensory autonomic motor neuropathy or infiltrative cardiomyopathy. The definition biomarkers for early diagnosis particularly important in current era emerging treatments. In this sense, metabolomics could be instrument able to provide metabolic profiles their related pathways, we would propose them...
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a severe and heterogeneous multisystem condition with prevalent peripheral nervous system impairment, due to mutations in the gene. Considering introduction of different disease-modifying therapies last few years, need reliable biomarkers emerging. In this study, we evaluated muscle MRI cohort ATTRv patients order establish if severity involvement correlated disease severity. Linear regression analysis showed significant positive...