87 research outputs found
Correction to: Outcomes on safety and efficacy of left atrial appendage occlusion in end stage renal disease patients undergoing dialysis (Journal of Nephrology, (2021), 34, 1, (63-73), 10.1007/s40620-020-00774-5)
No full textThe article Outcomes on safety and efficacy of left atrial appendage occlusion in end stage renal disease patients undergoing dialysis, written by Simonetta Genovesi, Luca Porcu, Giorgio Slaviero, Gavino Casu, Silvio Bertoli, Antonio Sagone, Monique Buskermolen, Federico Pieruzzi, Giovanni Rovaris, Alberto Montoli, Jacopo Oreglia, Emanuela Piccaluga, Giulio Molon, Mario Gaggiotti, Federica Ettori, Achille Gaspardone, Roberto Palumbo, Francesca Viazzi, Marco Breschi, Maurizio Gallieni, Gina Contaldo, Giuseppe D’Angelo, Pierluigi Merella, Fabio Galli, Paola Rebora, Mariagrazia Valsecchi, and Patrizio Mazzone, was originally published electronically on the publisher’s internet portal on 6 June 2020 without open access. With the author(s)’ decision to opt for Open Choice the copyright of the article changed on 10 July 2020 to © The Author(s) 2020 and this article is licensed under a Creative Commons Attribution 4.0 International License (http://creat iveco mmons .org/licen ses/ by/4.0/), which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The original article has been updated
Data set from Bernardini A, Camporeale A, Pieroni M, Pieruzzi F, Figliozzi S, Lusardi P, Spada M, Mignani R, Burlina A, Carubbi F, Battaglia Y, Graziani F, Pica S, Tondi L, Chow K, Boveri S, Olivotto I, Lombardi M. Atrial Dysfunction Assessed by Cardiac Magnetic Resonance as an Early Marker of Fabry Cardiomyopathy. JACC Cardiovasc Imaging. 2020 Oct;13(10):2262-2264. doi: 10.1016/j.jcmg.2020.05.011. Epub 2020 Jun 17. PMID: 32563647.
No full textData set from the article Bernardini A, Camporeale A, Pieroni M, Pieruzzi F, Figliozzi S, Lusardi P, Spada M, Mignani R, Burlina A, Carubbi F, Battaglia Y, Graziani F, Pica S, Tondi L, Chow K, Boveri S, Olivotto I, Lombardi M. Atrial Dysfunction Assessed by Cardiac Magnetic Resonance as an Early Marker of Fabry Cardiomyopathy. JACC Cardiovasc Imaging. 2020 Oct;13(10):2262-2264. doi: 10.1016/j.jcmg.2020.05.011. Epub 2020 Jun 17. PMID: 32563647.
Brief introduction
Anderson-Fabry disease (AFD) cardiomyopathy is characterized by glycosphingolipid (Gb3) storage in all cellular components, with consequent left ventricular hypertrophy (LVH). Gb3 accumulation also involves atrial myocytes (1), ultimately leading to left atrial (LA) enlargement and reduced atrial compliance. Cardiac magnetic resonance (CMR) plays an important role in the assessment of the severity of Fabry cardiomyopathy. CMR feature tracking (CMR-FT) specifically allows the assessment of myocardial strain from cine image
Data set from the article Camporeale A, Pieroni M, Pieruzzi F, Lusardi P, Pica S, Spada M, Mignani R, Burlina A, Bandera F, Guazzi M, Graziani F, Crea F, Greiser A, Boveri S, Ambrogi F, Lombardi M. Predictors of Clinical Evolution in Prehypertrophic Fabry Disease. Circ Cardiovasc Imaging. 2019 Apr;12(4):e008424. doi: 10.1161/CIRCIMAGING.118.008424. PMID: 30943767.
No full textdata set from the article Camporeale A, Pieroni M, Pieruzzi F, Lusardi P, Pica S, Spada M, Mignani R, Burlina A, Bandera F, Guazzi M, Graziani F, Crea F, Greiser A, Boveri S, Ambrogi F, Lombardi M. Predictors of Clinical Evolution in Prehypertrophic Fabry Disease. Circ Cardiovasc Imaging. 2019 Apr;12(4):e008424. doi: 10.1161/CIRCIMAGING.118.008424. PMID: 30943767.
This is the abstract:
Background: In prehypertrophic Fabry disease, low myocardial T1 values, reflecting sphingolipid storage, are associated with early structural and ECG changes. The correlations between T1 values and functional parameters have not been explored. Furthermore, the potential prognostic role of T1 in predicting disease worsening is still unknown.
Methods: ECG, 2D echocardiography, cardiopulmonary test, and cardiac magnetic resonance were performed in 44 Fabry patients without left ventricular hypertrophy (35.7±14.5 years, 68.2% females). After a 12-month follow-up, clinical stability was evaluated using Fabry Stabilization Index.
Results: At baseline, T1 values showed a negative correlation with left ventricular mass ( r=-0.79; P20%) at follow-up. Higher left ventricular wall thickness (odds ratio, 2.61; CI, 1.04-6.57; P=0.04), left atrial volume (odds ratio, 1.24; CI, 1.02-1.51; P=0.03), and lower T1 values (odds ratio, 0.98; CI, 0.96-0.99; P=0.03) at baseline were independently associated with clinical worsening at follow-up.
Conclusions: In prehypertrophic Fabry disease, low T1 values correlate with early electrocardiographic, morphological cardiac changes, and worsening of global disease severity but are not associated with functional abnormalities. The presence of low T1 values is a risk factor for disease worsening, thus representing a potential new tool in prognostic stratification and therapeutic approach
Clinicopathological characteristics of typical and atypical anti-glomerular basement membrane nephritis
No full textAnti-glomerular basement membrane (GBM) antibody disease is a rare pathological condition that mainly involves renal and/or pulmonary parenchyma. It is characterized by the presence of circulating anti-GBM antibodies accompanied by a linear deposition of immunoglobulins (Ig) detected through immunofluorescence (IF) technique and typical signs and symptoms of organ dysfunction, such as rapidly progressive glomerulonephritis (RPGN) and pulmonary hemorrhage (PH). However, recently atypical forms of anti-GBM disease have been described and the presence of overlapping diseases contributed to make its diagnosis challenging. In this review will be discussed the entire spectrum of renal anti-GBM related conditions, focusing the attention on the differences in terms of pathogenesis, diagnosis and therapy of these disparate entities
Area Cardiologica-Advisory Board Plan Multidisciplinare "Diagnosi e Follow-up Malattia di Fabry".Cardiological follow-up in patients with Fabry disease.
No full textFabry disease is a rare tesaurismosis due to a deficit of the lysosomal enzyme activity of alpha-galactosidase, needed for the normal catabolism of globotriaosylceramides (GL3). Fabry cardiac involvement has several clinical manifestations: concentric left ventricular hypertrophy without left ventricular dilation and severe loss of left ventricular systolic function, mitral and aortic valvulopathy, disorders of the atrioventricular conduction or repolarization, and compromised diastolic function. Differentiating Fabry disease from similar conditions is often quite straightforward, e.g., cardiac amyloidosis is often associated with low electrocardiographic voltages, and systemic symptoms are usually associated with hemochromatosis and sarcoidosis. However, sometimes second-level (genetic analysis, alpha-galactosidase levels) or invasive investigations are required, which can include endomyocardial biopsy. Diagnostic imaging techniques have been described, but they lack specificity. Echocardiographic imaging with tissue Doppler analysis and/or strain rate analysis can allow diagnosis of Fabry disease even before left ventricular hypertrophy becomes apparent. This review illustrates the techniques for staging cardiac involvement and damage in Fabry disease and for the long-term follow-up of Fabry patients with or without cardiac involvement. Careful cardiac monitoring is especially important in elderly female carriers, who often develop renal disorders and/or left ventricular hypertrophy as the only manifestations of their late Fabry disease. In some clinical series, Fabry disease was diagnosed in 12% of women with adult-onset hypertrophic cardiomyopathy. Cardiological problems and outcomes of enzyme replacement therapy, associated with or without other cardiological treatments, are also discussed
Analysis of heart period and arterial pressure variability in childhood hypertension : key role of baroreflex impairment
No full textIn adults, initial stages of hypertension are associated with elevated sympathetic drive and significant alterations in indirect autonomic markers. There is growing evidence that children in the highest-pressure percentiles will be more likely to develop hypertension in adulthood, although mechanisms are not understood. We assessed whether computer analysis of RR interval and arterial blood pressure variability could detect early autonomic alterations in childhood hypertension, as assessed by noninvasive time and frequency domain measures of baroreflex regulation. We studied 75 children, subdivided in 3 subgroups of similar age (9.7+/-0.2 years): control subjects, prehypertensive children (ie, children with arterial pressure values >90th and 95th percentile; systolic arterial pressure: 97+/-3/57+/-2, 121+/-5/70+/-1, and 128+/-2/80+/-2 mm Hg, respectively). We observed that hypertensive children demonstrate a significant impairment of the baroreflex as compared with control subjects (index alpha: 20+/-2 and 40+/-4 ms/mm Hg; spontaneous baroreflex slope: 20+/-2 and 37+/-5; ms/mm Hg; P<0.05 in both cases) and reduced RR variance. A similar baroreflex impairment is also observed in children whose arterial pressure falls short of this limit, ie, in the prehypertensive range. In conclusion, hypertensive children display a marked baroreflex impairment. A similar baroreflex impairment is also observed in the prehypertensive state. Baroreflex assessment could furnish additional information in the clinical assessment of pediatric hypertension
Intrafamilial phenotypic variability in four families with Anderson-Fabry disease.
No full textWe analysed the clinical history of 16 hemizygous males affected by Anderson-Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61 years of age, died, whereas nine (age range 23-55) are alive. Eleven patients have undergone enzyme replacement therapy (ERT) for a period of 5-10 years. We have found a wide range of intrafamilial phenotypic variability in these families, both in terms of target-organs and severity of the disease. Overall, our findings confirm previous data from the literature showing a high degree of intrafamilial phenotypic variability in patients carrying the same mutation. Furthermore, our results underscore the difficulty in giving accurate prognostic information to patients during genetic counselling, both in terms of rate of disease progression and involvement of different organs, when such prognosis is solely based on the patient's family history
Nuove indicazioni all’impiego del TSH umano ricombinante (rhTSH) e basse attività di 131I nella radioablazione del residuo tiroideo post-chirurgico.
No full textL’ablazione con radioiodio (RRA) in pazienti con carcinoma differenziato della tiroide a rischio basso/intermedio è un argomento di acceso dibattito sia per l’attività di 131I che per la modalità di preparazione [ipotiroidismo vs eutiroidismo con TSH umano ricombinante (rhTSH)]. Recentemente è stato dimostrato che la percentuale ablativa era simile in pazienti preparati con rhTSH o in ipotiroidismo e trattati con alte o basse attività di 131I. È stato inoltre dimostrato che la modalità di preparazione alla RRA non determinava alcuna differenza nello stato finale di malattia a 10 anni dal trattamento, eliminando così ogni esitazione sull’affidabilità della RRA con rhTSH e basse attività di 131I
Routine immunohistochemical staining in membranous nephropathy : in situ detection of phospholipase A2 receptor and thrombospondin type 1 containing 7A domain
No full textBackground: Membranous nephropathy (MN) can be idiopathic (iMN) or manifest as a result of systemic underlying conditions as a secondary epiphenomenon. For the prognostic and predictive consequences of this discrimination, the routine use of reliable markers is crucial. This large MN series aimed to evaluate the routine and standardized immunohistochemical (IHC) employment of a panel of 3 biomarkers—phospholipase A2 receptor (PLA2R), thrombospondin type-1 domain-containing 7A (THSD7A), and immunoglobulin (Ig)G4—in the differential diagnosis of MN forms, contributing to the validation of the technique and the correct interpretation of reproducible patterns of reactivity. Methods: We classified 95 patients with a biopsy proven diagnosis of MN as primary (n = 72) or secondary (n = 23) cases based on clinical data. After performing an IHC assay directed against PLA2R, THSD7A and IgG4 antigens, samples were interpreted by three different nephropathologists to assess the positivity/negativity of the staining according to new interpretation criteria. Results: Useful interpretation criteria were introduced to exclude false positive patterns of reactivity and to identify only true granular membranous or mesangial deposits in MN. The IHC directed against PLA2R resulted positive in 51 iMN cases and negative in 21, while 4/23 secondary forms were considered positive. Based on these data the technique showed a sensitivity of 71% and specificity of 83%. On the other hand, the IHC analysis for IgG4 resulted positive in 44 cases of iMN and negative in 28 cases, while only 4/23 secondary forms were positive (same cases positive to PLA2R). Finally, THSD7A was found to be positive only in 1 case, which was negative to PLA2R and IgG4. The combination of the results allowed a classification of the series into two major groups: “double-positive” (PLA2R+/IgG4+/THSD7A−) and “triple-negative” (PLA2R−/IgG4−/THSD7A−) cases. Conclusions: Based on these data, the diagnostic performance of the three biomarkers used in a “tandem fashion” can reach 79% sensitivity and 83% specificity, significantly reducing the risk of a false-positive or false-negative result and improving the routine characterization of this frequent glomerulonephritis
FAbry STabilization indEX (FASTEX) : an innovative tool for the assessment of clinical stabilization in Fabry disease
No full textTwo disease severity scoring systems, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), have been validated for quantifying the disease burden of Fabry disease. We aimed to develop a dynamic mathematical model [the FASTEX (FAbry STabilization indEX)] to assess the clinical stability. A multidisciplinary panel of experts in Fabry disease first defined a novel score of severity [raw score (RS)] based on three domains with a small number items in each domain (nervous system domain: pain, cerebrovascular events; renal domain: proteinuria, glomerular filtration rate; cardiac domain: echocardiography parameters, electrocardiograph parameters and New York Heart Association class) and evaluated the clinical stability over time. The RS was tested in 28 patients (15 males, 13 females) with the classic form of Fabry disease. There was good statistical correlation between the newly established RS and a weighted score (WS), with DS3 and MSSI (R (2) = 0.914, 0.949, 0.910 and 0.938, respectively). In order to refine the RS further, a WS, which was expressed as a percentage value, was calculated. This was based on the relative clinical significance of each item within the domain with the panel agreeing on the attribution of a different weight of clinical damage to a specific organ system. To test the variation of the clinical burden over time, the RS was repeated after 1 year. The panel agreed on a cut-off of a 20% change from baseline as the clinical WS to define clinical stability. The FASTEX model showed good correlation with the clinical assessment and with clinical variation over time in all patients
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