Author
Fabrizio Salvi
Other affiliations: Academy for Urban School Leadership, University of Ferrara
Bio: Fabrizio Salvi is an academic researcher from University of Bologna. The author has contributed to research in topics: Transthyretin & Chronic cerebrospinal venous insufficiency. The author has an hindex of 56, co-authored 213 publications receiving 12721 citations. Previous affiliations of Fabrizio Salvi include Academy for Urban School Leadership & University of Ferrara.
Papers published on a yearly basis
Papers
More filters
••
University of Modena and Reggio Emilia1, Emory University2, University of Pennsylvania3, National Institutes of Health4, University College London5, Johns Hopkins University6, The Catholic University of America7, University of Turin8, Seconda Università degli Studi di Napoli9, University of Siena10, University of Palermo11, University of Cagliari12, Georgetown University13
TL;DR: Exome sequencing data broaden the phenotype of IBMPFD to include motor neuron degeneration, suggest that VCP mutations may account for ∼1%-2% of familial ALS, and provide evidence directly implicating defects in the ubiquitination/protein degradation pathway in motor neurons degeneration.
1,040 citations
••
TL;DR: CDMS is strongly associated with CCSVI, a scenario that has not previously been described, characterised by abnormal venous haemodynamics determined by extracranial multiple venous strictures of unknown origin.
Abstract: Background: The extracranial venous outflow routes in clinically defined multiple sclerosis (CDMS) have not previously been investigated. Methods: Sixty-five patients affected by CDMS, and 235 controls composed, respectively, of healthy subjects, healthy subjects older than CDMS patients, patients affected by other neurological diseases and older controls not affected by neurological diseases but scheduled for venography (HAV-C) blindly underwent a combined transcranial and extracranial colour-Doppler high-resolution examination (TCCS-ECD) aimed at detecting at least two of five parameters of anomalous venous outflow. According to the TCCS-ECD screening, patients and HAVC further underwent selective venography of the azygous and jugular venous system with venous pressure measurement. Results: CDMS and TCCS-ECD venous outflow anomalies were dramatically associated (OR 43, 95% CI 29 to 65, p,0.0001). Subsequently, venography demonstrated in CDMS, and not in controls, the presence of multiple severe extracranial stenosis, affecting the principal cerebrospinal venous segments; this provides a picture of chronic cerebrospinal venous insufficiency (CCSVI) with four different patterns of distribution of stenosis and substitute circle. Moreover, relapsing-remitting and secondary progressive courses were associated with CCSVI patterns significantly different from those of primary progressive (p,0.0001). Finally, the pressure gradient measured across the venous stenosies was slightly but significantly higher. Conclusion: CDMS is strongly associated with CCSVI, a scenario that has not previously been described, characterised by abnormal venous haemodynamics determined by extracranial multiple venous strictures of unknown origin. The location of venous obstructions plays a key role in determining the clinical course of the disease.
665 citations
••
TL;DR: The ITALSGEN Consortium is a network of around-the-world experts, academics, and practitioners working together to provide real-time information about the human brain’s response to ALS, and to provide a scaffolding for future research.
651 citations
••
TL;DR: It is concluded that 99mTc-DPD scintigraphy is a useful step in the workup of the differential diagnosis of TTR versus AL etiology in patients with documented cardiac amyloidosis.
632 citations
••
TL;DR: AL, ATTRm, and ATTRwt should be considered 3 different cardiac diseases, probably characterized by different pathophysiological substrates and courses.
Abstract: Background— Most studies of amyloidotic cardiomyopathy consider as a single entity the 3 main systemic cardiac amyloidoses: acquired monoclonal immunoglobulin light-chain (AL); hereditary, mutated transthyretin-related (ATTRm); and wild-type transthyretin-related (ATTRwt). In this study, we compared the diagnostic/clinical profiles of these 3 types of systemic cardiac amyloidosis. Methods and Results— We conducted a longitudinal study of 233 patients with clear-cut diagnosis by type of cardiac amyloidosis (AL, n=157; ATTRm, n=61; ATTRwt, n=15) at 2 large Italian centers providing coordinated amyloidosis diagnosis/management facilities since 1990. Average age at diagnosis was higher in AL than in ATTRm patients; all ATTRwt patients except 1 were elderly men. At diagnosis, mean left ventricular wall thickness was higher in ATTRwt than in ATTRm and AL. Left ventricular ejection fraction was moderately depressed in ATTRwt but not in AL or ATTRm. ATTRm patients less often displayed low QRS voltage (25% versus ...
602 citations
Cited by
More filters
••
University of Amsterdam1, University of Toronto2, Centre Hospitalier Universitaire de Toulouse3, Cleveland Clinic4, Tohoku University5, Charles University in Prague6, University College Dublin7, University of Basel8, Icahn School of Medicine at Mount Sinai9, Lund University10, University College London11, University of California, San Francisco12, Mayo Clinic13, University of Texas Health Science Center at Houston14
TL;DR: These revisions simplify the McDonald Criteria, preserve their diagnostic sensitivity and specificity, address their applicability across populations, and may allow earlier diagnosis and more uniform and widespread use.
Abstract: New evidence and consensus has led to further revision of the McDonald Criteria for diagnosis of multiple sclerosis. The use of imaging for demonstration of dissemination of central nervous system lesions in space and time has been simplified, and in some circumstances dissemination in space and time can be established by a single scan. These revisions simplify the Criteria, preserve their diagnostic sensitivity and specificity, address their applicability across populations, and may allow earlier diagnosis and more uniform and widespread use.
8,883 citations
••
VU University Amsterdam1, University of Rennes2, Vita-Salute San Raffaele University3, University of Düsseldorf4, University of Basel5, Icahn School of Medicine at Mount Sinai6, Foothills Medical Centre7, National Institutes of Health8, University of Toronto9, Lund University10, Mayo Clinic11, University of Texas Health Science Center at Houston12
TL;DR: New evidence and consensus now strengthen the role of these criteria in the multiple sclerosis diagnostic workup to demonstrate dissemination of lesions in time, to clarify the use of spinal cord lesions, and to simplify diagnosis of primary progressive disease.
Abstract: New diagnostic criteria for multiple sclerosis integrating magnetic resonance image assessment with clinical and other paraclinical methods were introduced in 2001. The "McDonald Criteria" have been extensively assessed and used since 2001. New evidence and consensus now strengthen the role of these criteria in the multiple sclerosis diagnostic workup to demonstrate dissemination of lesions in time, to clarify the use of spinal cord lesions, and to simplify diagnosis of primary progressive disease. The 2005 Revisions to the McDonald Diagnostic Criteria for MS should simplify and speed diagnosis, whereas maintaining adequate sensitivity and specificity.
4,862 citations
••
National Institutes of Health1, Cardiff University2, Erasmus University Rotterdam3, VU University Amsterdam4, University of Manchester5, University College London6, University of Helsinki7, University of Oulu8, Georgetown University9, Johns Hopkins University10, Illumina11, University Hospital of Wales12, University of Eastern Finland13, University of Miami14, University of Turin15, University of Cagliari16, The Catholic University of America17, Microsoft18, University of Toronto19, University of Würzburg20, University of Washington21, Aneurin Bevan University Health Board22
TL;DR: The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown.
3,784 citations
••
TL;DR: The objective of this study was to establish a baseline level of confidence that the once-in-a-lifetime implantation trial—Reduce Inappropriate Therapy protocol can be trusted to provide safe and effective treatment for cardiac arrhythmia and stroke-like episodes.
Abstract: 2D
: two-dimensional
99mTc-DPD
: 99mTechnetium-3,3-diphosphono- 1,2-propanodi-carboxylic acid
ACE
: angiotensin-converting enzyme
AF
: atrial fibrillation
AL
: amyloid light chain
AR
: aortic regurgitation
ARB
: angiotensin receptor blocker
ATTR
: amyloidosis-transthyretin type
AV
: atrioventricular
BiVAD
: biventricular assist device
BNP
: brain natriuretic peptide
BPM
: Beats per minute
CCS
: Canadian Cardiovascular Society
CFC
: cardiofacialcutaneous
CHA2DS2-VASc
: Congestive Heart failure, hypertension, Age ≥75 (doubled), Diabetes, Stroke (doubled), Vascular disease, Age 65–74, and Sex (female)
CMR
: cardiac magnetic resonance
CRT
: cardiac resynchronization therapy
CRT-D
: cardiac resynchronization therapy-defibrillator
CRT-P
: Cardiac resynchronization therapy with a pacemaker
CT
: computed tomography
DC
: direct current
DNA
: deoxyribonucleic acid
E/A
: ratio of mitral peak velocity of early filling (E) to mitral peak velocity of late filling (A)
E/e’
: ratio of early transmitral flow velocity (E) to early mitral annulus velocity (e’)
EACTS
: European Association for Cardio-Thoracic Surgery
ECG
: electrocardiogram
EF
: ejection fraction
EPS
: electrophysiological study
ESC
: European Society of Cardiology
FDA
: (US) Food and Drug Administration
FHL1
: four and a half LIM domains 1
HAS-BLED
: hypertension, abnormal renal/liver function, stroke, bleeding history or predisposition, labile INR, elderly (>65 years), drugs/alcohol concomitantly
HCM
: hypertrophic cardiomyopathy
hs-cTnT
: high sensitivity cardiac troponin T
HTS
: high throughput sequencing
ICD
: implantable cardioverter defibrillator
ILR
: implantable loop recorder
INR
: international normalized ratio
IUD
: intrauterine device
LA
: left atrium
LAMP-2
: lysosome-associated membrane protein 2
LBBB
: left bundle branch block
LEOPARD
: Lentigines, ECG abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retardation of growth, and sensory-neural Deafness
LGE
: late gadolinium enhancement
LV
: left ventricular
LVAD
: left ventricular assist device
LVH
: left ventricular hypertrophy
LVOTO
: left ventricular outlow tract obstruction
MADIT-RIT
: Multicenter Automatic Defibrillator Implantation Trial—Reduce Inappropriate Therapy
MAPK
: mitogen activated protein kinase
MELAS
: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
MERFF
: myoclonic epilepsy with ragged red fibres
MRA
: mineralocorticoid receptor antagonist
MYBPC3
: myosin-binding protein C, cardiac-type
MYH7
: myosin-7 (s-myosin heavy chain)
MYL3
: myosin light chain 3
NOAC
: new oral anticoagulants
NSVT
: non-sustained ventricular tachycardia
NT-proBNP
: N-terminal pro brain natriuretic peptide
NYHA
: New York Heart Association
OAC
: oral anticoagulants
o.d.
: omni die (every day)
PC-CMR
: phase contrast cardiac magnetic resonance
PDE5
: phosphodiesterase type 5
PET
: positron emission tomography
PRKAG2
: gamma-2 sub-unit of the adenosine monophosphate-activated protein kinase
RAAS
: renin angiotensin aldosterone system
RV
: right ventricular
SAM
: systolic anterior motion
SCD
: sudden cardiac death
SAA
: septal alcohol ablation
S-ICD™
: Subcutaneous lead implantable cardioverter defibrillator
SPECT
: single photon emission computed tomography
SSFP
: steady-state free precession
SVT
: supraventricular tachycardia
TOE
: transoesophageal echocardiography
TNNI3
: troponin I, cardiac muscle
TNNT2
: troponin T, cardiac muscle
TPM1
: tropomyosin alpha-1 chain
TTE
: transthoracic echocardiography
TTR
: transthyretin
VF
: ventricular fibrillation
VKA
: vitamin K antagonist
VT
: ventricular tachycardia
WHO
: World Health Organization
Guidelines summarize and evaluate all available evidence at the time of the writing process, on a particular issue with the aim of assisting health professionals in selecting the best management strategies for an individual patient, with a given condition, taking into account the impact on outcome, as well as the risk-benefit-ratio of particular diagnostic or therapeutic means. Guidelines and recommendations should help the health professionals to make decisions in their daily practice. However, the final decisions concerning an individual patient must be made by the responsible health professional(s) in consultation with the patient and caregiver as appropriate.
A great number of Guidelines have been issued in recent years by the European Society of Cardiology (ESC) as well as by other societies and organisations. Because of the impact on clinical practice, quality criteria for the development of guidelines have been established in order to make all decisions transparent to the user. The recommendations for formulating and issuing ESC Guidelines can be found on the ESC website (http://www.escardio.org/guidelines-surveys/esc-guidelines/about/Pages/rules-writing.aspx). ESC Guidelines represent the official position of the ESC on a given topic and are regularly updated.
Members of this Task Force were selected by the ESC to represent professionals involved with the medical care of patients with this pathology. Selected experts in the field undertook a comprehensive review of the published evidence for management (including diagnosis, treatment, prevention and rehabilitation) of a given condition according to ESC Committee for Practice Guidelines (CPG) policy. A critical evaluation of diagnostic and therapeutic procedures was performed including assessment of the risk-benefit-ratio. Estimates of expected health outcomes for larger populations were included, where data exist. The level of evidence and the strength of recommendation of particular management options were weighed and graded according to predefined scales, as outlined in Tables 1 and 2 .
The experts of …
3,276 citations
••
TL;DR: Data suggest that autoantibodies to aquaporin 4 derived from peripheral B cells cause the activation of complement, inflammatory demyelination, and necrosis that is seen in neuromyelitis optica.
Abstract: Summary Neuromyelitis optica (also known as Devic's disease) is an idiopathic, severe, demyelinating disease of the central nervous system that preferentially affects the optic nerve and spinal cord. Neuromyelitis optica has a worldwide distribution, poor prognosis, and has long been thought of as a variant of multiple sclerosis; however, clinical, laboratory, immunological, and pathological characteristics that distinguish it from multiple sclerosis are now recognised. The presence of a highly specific serum autoantibody marker (NMO-IgG) further differentiates neuromyelitis optica from multiple sclerosis and has helped to define a neuromyelitis optica spectrum of disorders. NMO-IgG reacts with the water channel aquaporin 4. Data suggest that autoantibodies to aquaporin 4 derived from peripheral B cells cause the activation of complement, inflammatory demyelination, and necrosis that is seen in neuromyelitis optica. The knowledge gained from further assessment of the exact role of NMO-IgG in the pathogenesis of neuromyelitis optica will provide a foundation for rational therapeutic trials for this rapidly disabling disease.
1,928 citations