Gianfilippo Neri - Academia.edu (original) (raw)
Papers by Gianfilippo Neri
Information about reproducing this article in parts or in its entirety may be found online at:
Journal of Atrial Fibrillation, Oct 10, 2014
Prenatal Diag, 1994
We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur-fibula-ulna (FFU) c... more We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur-fibula-ulna (FFU) complex. To our knowledge, this is the first report of an early prenatal diagnosis of FFU. KEY woms-Ultrasonography, prenatal diagnosis, femur-fibula-ulna complex.
Italian Heart Journal Official Journal of the Italian Federation of Cardiology, Nov 1, 2002
Biventricular pacing induces well-known effects on myocardial wall function, apparently providing... more Biventricular pacing induces well-known effects on myocardial wall function, apparently providing better results in comparison with conventional right pacing in patients presenting with dilated cardiomyopathy (DCM). However, at the moment the secondary changes in myocardial metabolism induced by pacing devices are unclear. The aim of our study was to evaluate the possible changes in myocardial metabolism and perfusion induced by cardiac pacing in these patients. Twenty-eight patients presenting with DCM were submitted to positron emission tomography. Eighteen patients were examined during cardiac pacing, 6 had dual chamber pacemakers implanted for conventional reasons (group A), 12 biventricular pacemakers (group B) for resynchronization purposes; the other 10 patients were considered as controls. Myocardial metabolism was evaluated using 18F-fluorodeoxyglucose (FDG), by the glucose load-insulin technique and perfusion using 13N-ammonia (NH3), injected at rest. A visual and a semiquantitative analysis were performed, calculating on the basis of the regions of interest the septum to lateral uptake (S/L) ratio. In all the 6 patients of group A, a selective defect in FDG uptake was observed in the septum (mean S/L ratio 0.67 +/- 0.15, p < 0.01 with respect to controls), while both the patients in group B and the controls presented a homogeneous distribution of FDG uptake in the myocardial wall (mean S/L ratio 1.01 +/- 0.10 and 0.95 +/- 0.13 respectively, p = NS). On the contrary, at the NH3 positron emission tomography studies no significant difference in myocardial perfusion was found in the three groups of patients, both at the visual and at the semiquantitative analysis (mean S/L ratio group A 1.01 +/- 0.21, group B 0.99 +/- 0.17, controls 0.94 +/- 0.11, p = NS). Our experience could suggest that, in patients with DCM, conventional right pacing could induce interference in the metabolism of the septum not correlated with perfusion changes. On the other hand, biventricular pacing improves myocardial wall function without interfering with myocardial metabolism and perfusion.
Italian Heart Journal Supplement Official Journal of the Italian Federation of Cardiology, Mar 1, 2004
Coronary artery fistulas are occasionally found in patients who undergo a coronary angiography an... more Coronary artery fistulas are occasionally found in patients who undergo a coronary angiography and they may involve any epicardial coronary artery; the natural history in asymptomatic adult patients is unknown. Besides the invasive diagnosis with cardiac catheterization, it is possible to detect significant coronary fistulas also with different non-invasive methods, but they need the presence of shunt of enough size. Therapeutic options can be surgical or percutaneous. The demonstration of a communication between the coronary and distal tract of the pulmonary artery is difficult to explain with the embryogenic theory. We report the case of a patient with aortic stenosis and a shunt between the distal tract of the left pulmonary artery and the circumflex coronary artery.
Am J Med Genet Part a, 2005
Minerva cardioangiologica
European Journal of Heart Failure Supplements
Giornale italiano di cardiologia
We describe two cases of cardiac tamponade following a right ventricular wall perforation, due to... more We describe two cases of cardiac tamponade following a right ventricular wall perforation, due to temporary stimulating catheter, during acute myocardial infarction. The pericardial effusion, which occurred after the catheter remotion, could have been favoured by the anticoagulant treatment.
________________________________________ SEZIONE REGIONALE VENETO NEWSLETTER n° 3 DELL'ANMCO-VENE... more ________________________________________ SEZIONE REGIONALE VENETO NEWSLETTER n° 3 DELL'ANMCO-VENETO Dicembre 2006 NOTIZIE DAL CONSIGLIO DIRETTIVO -Nello scorso mese di Ottobre il nostro Presidente, Dr. Domenico Marchese, ha avuto un incontro con l'Assessore alla Sanità della Regione Veneto ed ha potuto così presentare il documento programmatico e d'intenti della nostra Associazione finalizzato alla salvaguardia della cura dei cardiopatici, della nostra professionalità e della eccellente tradizione delle Cardiologie Venete. Il documento integrale, per chi volesse prenderne visione, è allegato alla presente NL. L'impressione generale dell'incontro, avuta dal Dr. Marchese è stata favorevole: l'assessore ha preso l'impegno formale, per quel che concerne la pianificazione sanitaria regionale nella gestione delle malattie cardio-vascolari, di considerare, consultare ed inserire i Rappresentati della nostra Associazione nei gruppi di lavoro e commissioni regionali. Come primo atto di tale decisione è stato promesso, infatti, che un delegato Anmco verrà inserito nelle commissioni tecniche dell'Agenzia Regionale diretta dal dott. Compostella specialmente per quanto riguarda lo sviluppo e l'attuazione di una rete interospedaliera per il trattamento delle sindromi coronariche acute. -Con il 2007 vi sarà il rinnovo dei Referenti regionali ANMCO relativi alle AREE e all'Heart Care Fundation. Per quest'anno, come consuetudine i nomi sono stati discussi e proposti da noi del consiglio direttivo regionale. Per il futuro, avremmo piacere che la designazione avvenga con una discussione più articolata tra i soci. Come più volte abbiamo già più volte sottolineato, infatti, la massima priorità che ci siamo dati in questo mandato è quello di favorire la partecipazione più ampia possibile, ed è per tale motivo che ribadiamo l'importanza che in ogni struttura/azienda ospedaliera vi sia una figura di riferimento dell'ANMCO: il referente locale. Fino ad ora solo la Cardiologia di Venezia ha espresso il proprio referente, sollecitiamo gli altri gruppi a segnalare il proprio. Vi sono infatti altre iniziative, come ad esempio la partecipazione alla rubrica "l'Esperto Risponde" della Heart Care Foundation, forum internet del sito della nostra associazione per il pubblico e che offre un'alta visibilità a chi partecipa. Gradiremmo che le cardiologie venete, tramite ASSOCIAZIONE NAZIONALE MEDICI CARDIOLOGI OSPEDALIERI (A.N.M.C.O.) SEDE NAZIONALE: 50121 FIRENZE -Via La Marmora, 36 -Tel. 055.571798 -Fax 055.579334 http//www.anmco.it e-mail: segreteria@anmco.it (A.N.M.C.O.) SEDE NAZIONALE: 50121 FIRENZE -Via La Marmora, 36 -Tel. 055.571798 -Fax 055.579334 http//www.anmco.it
Minerva cardioangiologica
Rupture of interventricular septum is an infrequent but serious complication of acute myocardial ... more Rupture of interventricular septum is an infrequent but serious complication of acute myocardial infarction. We report the cases of two patients admitted to our department for acute myocardial infarction whose clinical course was complicated by rupture of the interventricular septum. They died from cardiogenic shock on the 13th and 6th days. Two dimensional and color coded echocardiography correctly detected the presence and the site of the rupture.
Giornale italiano di cardiologia
We describe a case of patient with severe angina pectoris unresponsive to medical therapy who was... more We describe a case of patient with severe angina pectoris unresponsive to medical therapy who was treated with spinal cord stimulation. The patient was studied by dynamic positron emission tomography (PET) (13-N ammonia) and with heart rate variability. Spinal cord stimulation was effective in reducing anginal attacks and PET documented an enhancement of myocardial perfusion when spinal stimulator was activated. Heart rate variability did not change during spinal cord stimulation.
Toxicology Letters, 2003
The aim of the present study is to evaluate the influence of the genetic polymorphism of two enzy... more The aim of the present study is to evaluate the influence of the genetic polymorphism of two enzymes involved in the biotransformation of xenobiotics, cytochrome P450 1A1 (CYP1A1) and glutathione-S -transferase M1 (GSTM1), on the urinary levels of 1-hydroxypyrene (1-OH-P) in workers exposed to polycyclic aromatic hydrocarbons (PAHs) and in unexposed workers (controls). The study group consisted of 30 controls recruited among employees of a service company and 171 PAHs-exposed workers from two electric steel plants and an iron foundry (all males, ranging between 18 and 60 years of age). Determination of airborne PAHs and urinary 1-OH-P was performed by high-performance liquid chromatography (HPLC) with fluorimetric detection. Polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) was used to determine the genetic polymorphisms of CYP1A1 (CYP1A1*2A and CYP1A1*2B) and GSTM1. No influence of the genetic polymorphism of CYP1A1 and GSTM1 on the urinary levels of 1-OH-P was observed in this study. #
Giornale italiano di cardiologia
Aim of the present study was to compare the ability of low-dose (5-10 gamma/Kg/min) dobutamine ec... more Aim of the present study was to compare the ability of low-dose (5-10 gamma/Kg/min) dobutamine echocardiography (DE) and of positron emission tomography (PET), performed after a thrombolized acute myocardial infarction (AMI), to predict the spontaneous functional recovery (SFR) of viable but akinetic myocardial segments. Twenty-one pts were studied by DE, 10 +/- 2 days (DE1) and 31 +/- 2 days (DE2), after a thrombolized AMI, and by PET (18F-FDS, glucose load) within 7 days after DE2; a basal echo was also performed 3 months after AMI. The left ventricle was divided in 16 segments, both in echo and PET examination. DE viability was defined as improvement in wall motion of akinetic seg; PET viability was defined as an FDG uptake > or = 40% of the maximum. In the 89 akinetic segments, DE1, DE2 and PET, respectively, identified, 16, 27 and 60 viable segments; the concordance with PET, in viable and not viable segments, resulted of 50% for DE1 and of 62% for DE2. After 3 months 29/89 segments had a SFR. In comparison with SFR the sensitivity of DE1 and DE2 was lower (51% and 68%) than PET (89%); the specificity was higher for DE1 and DE2 (98% and 96%) respect to PET (43%). In comparison with DE performed 10 days after a thrombolized AMI, DE performed 30 days after AMI revealed a greater extension of viable myocardium and a greater diagnostic accuracy in predicting SFR of akinetic segments. The concordance between DE and PET is high, if all myocardial segments are considered, and lower, if only akinetic segments are considered; in fact, PET identifies, as viable, a greater number of segments. In comparison with SRF, DE revealed the greatest specificity and PET the greatest sensitivity.
Journal of the Neurological Sciences, 1997
Minerva cardioangiologica
The authors describe three cases of micro-Ebstein diagnosed using 2D-echocardiography in patients... more The authors describe three cases of micro-Ebstein diagnosed using 2D-echocardiography in patients affected by extrasystolic cardiopalm. The most important echocardiographic criterion for diagnosis was an apical displacement of the septal cusp of the tricuspid valve of at least 8 mm/m2 BA. It is generally reported that the severity of arrhythmias is independent of the degree of tricuspid malformation. The anatomical substrates of arrhythmias are persistent anomalous muscular by-passes between the atrium and the ventricles, and intrinsic anomaly of the right ventricular myocardium. For these reasons, it is necessary to follow-up patients and monitor arrhythmias using Holter-ECG. Echocardiography is now recognised as being the most important tool for the identification of this anomaly.
Human Molecular Genetics, 2006
Maintenance of X-inactivation is achieved through a combination of different repressive mechanism... more Maintenance of X-inactivation is achieved through a combination of different repressive mechanisms, thus perpetuating the silencing message through many cell generations. The second human X -Y pseudoautosomal region 2 (PAR2) is a useful model to explore the features and internal relationships of the epigenetic circuits involved in this phenomenon. Recently, we demonstrated that DNA methylation plays an essential role for the maintenance of X-and Y-inactivation of the PAR2 gene SYBL1; here we report that the silencing of the second repressed PAR2 gene, SPRY3, appears to be independent of DNA methylation. In contrast to SYBL1, the inactive X and Y alleles of SPRY3 are not reactivated in cells treated with a DNA methylation inhibitor and in cells from ICF (immunodeficiency, centromeric instability, facial anomalies) syndrome patients, which have mutations in the DNA methyltransferase gene DNMT3B. SPRY3 X-and Y-inactivation is associated with a differential enrichment of repressive histone modifications and the recruitment of Polycomb 2 group proteins compared to the active X allele. Another major factor in SPRY3 repression is late replication; the inactive X and Y alleles of SPRY3 have delayed replication relative to the active X allele, even in ICF syndrome cells where the closely linked SYBL1 gene is reactivated and advanced in replication. The relatively stable maintenance of SPRY3 silencing compared with SYBL1 suggests that genes without CpG islands may be less prone to reactivation than previously thought and that genes with CpG islands require promoter methylation as an additional layer of repression.
Minerva cardioangiologica
Two cases of embolic infective endocarditis on bicuspid aortic valve are described. The trans-tho... more Two cases of embolic infective endocarditis on bicuspid aortic valve are described. The trans-thoracic and trans-esophageal echocardiographic aspect could leave easily suppose the possibility of embolism. The prophylactic surgical treatment, during the active phase, also if the indication is debated, could have probably avoided the serious consequences of embolism.
Human Molecular Genetics, 2009
Sporadic amyotrophic lateral sclerosis (SALS) is a motor neuron degenerative disease of unknown e... more Sporadic amyotrophic lateral sclerosis (SALS) is a motor neuron degenerative disease of unknown etiology. Current thinking on SALS is that multiple genetic and environmental factors contribute to disease liability. Since neuronal acetylcholine receptors (nAChRs) are part of the glutamatergic pathway, we searched for sequence variants in CHRNA3, CHRNA4 and CHRNB4 genes, encoding neuronal nicotinic AChR subunits, in 245 SALS patients and in 450 controls. We characterized missense variants by in vitro mutagenesis, cell transfection and electrophysiology. Sequencing the regions encoding the intracellular loop of AChRs subunits disclosed 15 missense variants (6.1%) in 14 patients compared with only six variants (1.3%) in controls (P 5 0.001; OR 4.48, 95% CI 1.7 -11.8). The frequency of variants in exons encoding extracellular and transmembrane domains and in intronic regions did not differ. NAChRs formed by mutant a3 and a4 and wild-type (WT) b4 subunits exhibited altered affinity for nicotine (Nic), reduced use-dependent rundown of Nic-activated currents (I Nic ) and reduced desensitization leading to sustained intracellular Ca 21 concentration, in comparison with WT-nAChR. The cellular loop has a crucial importance for receptor trafficking and regulating ion channel properties. Missense variants in this domain are significantly over-represented in SALS patients and alter functional properties of nAChR in vitro, resulting in increased Ca 21 entry into the cells. We suggest that these gain-offunction variants might contribute to disease liability in a subset of SALS because Ca 21 signals mediate nAChR's neuromodulatory effects, including regulation of glutamate release and control of cell survival.
Minerva cardioangiologica
Two cases of left ventricular bands, detected by two-dimensional echocardiography, in two young m... more Two cases of left ventricular bands, detected by two-dimensional echocardiography, in two young men are described. In both cases anterior negative T waves were present. Therefore, the possible presence of these structures should always be investigated, by two-dimensional echocardiography, when anterior negative T waves are present in normal young people.
Information about reproducing this article in parts or in its entirety may be found online at:
Journal of Atrial Fibrillation, Oct 10, 2014
Prenatal Diag, 1994
We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur-fibula-ulna (FFU) c... more We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur-fibula-ulna (FFU) complex. To our knowledge, this is the first report of an early prenatal diagnosis of FFU. KEY woms-Ultrasonography, prenatal diagnosis, femur-fibula-ulna complex.
Italian Heart Journal Official Journal of the Italian Federation of Cardiology, Nov 1, 2002
Biventricular pacing induces well-known effects on myocardial wall function, apparently providing... more Biventricular pacing induces well-known effects on myocardial wall function, apparently providing better results in comparison with conventional right pacing in patients presenting with dilated cardiomyopathy (DCM). However, at the moment the secondary changes in myocardial metabolism induced by pacing devices are unclear. The aim of our study was to evaluate the possible changes in myocardial metabolism and perfusion induced by cardiac pacing in these patients. Twenty-eight patients presenting with DCM were submitted to positron emission tomography. Eighteen patients were examined during cardiac pacing, 6 had dual chamber pacemakers implanted for conventional reasons (group A), 12 biventricular pacemakers (group B) for resynchronization purposes; the other 10 patients were considered as controls. Myocardial metabolism was evaluated using 18F-fluorodeoxyglucose (FDG), by the glucose load-insulin technique and perfusion using 13N-ammonia (NH3), injected at rest. A visual and a semiquantitative analysis were performed, calculating on the basis of the regions of interest the septum to lateral uptake (S/L) ratio. In all the 6 patients of group A, a selective defect in FDG uptake was observed in the septum (mean S/L ratio 0.67 +/- 0.15, p < 0.01 with respect to controls), while both the patients in group B and the controls presented a homogeneous distribution of FDG uptake in the myocardial wall (mean S/L ratio 1.01 +/- 0.10 and 0.95 +/- 0.13 respectively, p = NS). On the contrary, at the NH3 positron emission tomography studies no significant difference in myocardial perfusion was found in the three groups of patients, both at the visual and at the semiquantitative analysis (mean S/L ratio group A 1.01 +/- 0.21, group B 0.99 +/- 0.17, controls 0.94 +/- 0.11, p = NS). Our experience could suggest that, in patients with DCM, conventional right pacing could induce interference in the metabolism of the septum not correlated with perfusion changes. On the other hand, biventricular pacing improves myocardial wall function without interfering with myocardial metabolism and perfusion.
Italian Heart Journal Supplement Official Journal of the Italian Federation of Cardiology, Mar 1, 2004
Coronary artery fistulas are occasionally found in patients who undergo a coronary angiography an... more Coronary artery fistulas are occasionally found in patients who undergo a coronary angiography and they may involve any epicardial coronary artery; the natural history in asymptomatic adult patients is unknown. Besides the invasive diagnosis with cardiac catheterization, it is possible to detect significant coronary fistulas also with different non-invasive methods, but they need the presence of shunt of enough size. Therapeutic options can be surgical or percutaneous. The demonstration of a communication between the coronary and distal tract of the pulmonary artery is difficult to explain with the embryogenic theory. We report the case of a patient with aortic stenosis and a shunt between the distal tract of the left pulmonary artery and the circumflex coronary artery.
Am J Med Genet Part a, 2005
Minerva cardioangiologica
European Journal of Heart Failure Supplements
Giornale italiano di cardiologia
We describe two cases of cardiac tamponade following a right ventricular wall perforation, due to... more We describe two cases of cardiac tamponade following a right ventricular wall perforation, due to temporary stimulating catheter, during acute myocardial infarction. The pericardial effusion, which occurred after the catheter remotion, could have been favoured by the anticoagulant treatment.
________________________________________ SEZIONE REGIONALE VENETO NEWSLETTER n° 3 DELL'ANMCO-VENE... more ________________________________________ SEZIONE REGIONALE VENETO NEWSLETTER n° 3 DELL'ANMCO-VENETO Dicembre 2006 NOTIZIE DAL CONSIGLIO DIRETTIVO -Nello scorso mese di Ottobre il nostro Presidente, Dr. Domenico Marchese, ha avuto un incontro con l'Assessore alla Sanità della Regione Veneto ed ha potuto così presentare il documento programmatico e d'intenti della nostra Associazione finalizzato alla salvaguardia della cura dei cardiopatici, della nostra professionalità e della eccellente tradizione delle Cardiologie Venete. Il documento integrale, per chi volesse prenderne visione, è allegato alla presente NL. L'impressione generale dell'incontro, avuta dal Dr. Marchese è stata favorevole: l'assessore ha preso l'impegno formale, per quel che concerne la pianificazione sanitaria regionale nella gestione delle malattie cardio-vascolari, di considerare, consultare ed inserire i Rappresentati della nostra Associazione nei gruppi di lavoro e commissioni regionali. Come primo atto di tale decisione è stato promesso, infatti, che un delegato Anmco verrà inserito nelle commissioni tecniche dell'Agenzia Regionale diretta dal dott. Compostella specialmente per quanto riguarda lo sviluppo e l'attuazione di una rete interospedaliera per il trattamento delle sindromi coronariche acute. -Con il 2007 vi sarà il rinnovo dei Referenti regionali ANMCO relativi alle AREE e all'Heart Care Fundation. Per quest'anno, come consuetudine i nomi sono stati discussi e proposti da noi del consiglio direttivo regionale. Per il futuro, avremmo piacere che la designazione avvenga con una discussione più articolata tra i soci. Come più volte abbiamo già più volte sottolineato, infatti, la massima priorità che ci siamo dati in questo mandato è quello di favorire la partecipazione più ampia possibile, ed è per tale motivo che ribadiamo l'importanza che in ogni struttura/azienda ospedaliera vi sia una figura di riferimento dell'ANMCO: il referente locale. Fino ad ora solo la Cardiologia di Venezia ha espresso il proprio referente, sollecitiamo gli altri gruppi a segnalare il proprio. Vi sono infatti altre iniziative, come ad esempio la partecipazione alla rubrica "l'Esperto Risponde" della Heart Care Foundation, forum internet del sito della nostra associazione per il pubblico e che offre un'alta visibilità a chi partecipa. Gradiremmo che le cardiologie venete, tramite ASSOCIAZIONE NAZIONALE MEDICI CARDIOLOGI OSPEDALIERI (A.N.M.C.O.) SEDE NAZIONALE: 50121 FIRENZE -Via La Marmora, 36 -Tel. 055.571798 -Fax 055.579334 http//www.anmco.it e-mail: segreteria@anmco.it (A.N.M.C.O.) SEDE NAZIONALE: 50121 FIRENZE -Via La Marmora, 36 -Tel. 055.571798 -Fax 055.579334 http//www.anmco.it
Minerva cardioangiologica
Rupture of interventricular septum is an infrequent but serious complication of acute myocardial ... more Rupture of interventricular septum is an infrequent but serious complication of acute myocardial infarction. We report the cases of two patients admitted to our department for acute myocardial infarction whose clinical course was complicated by rupture of the interventricular septum. They died from cardiogenic shock on the 13th and 6th days. Two dimensional and color coded echocardiography correctly detected the presence and the site of the rupture.
Giornale italiano di cardiologia
We describe a case of patient with severe angina pectoris unresponsive to medical therapy who was... more We describe a case of patient with severe angina pectoris unresponsive to medical therapy who was treated with spinal cord stimulation. The patient was studied by dynamic positron emission tomography (PET) (13-N ammonia) and with heart rate variability. Spinal cord stimulation was effective in reducing anginal attacks and PET documented an enhancement of myocardial perfusion when spinal stimulator was activated. Heart rate variability did not change during spinal cord stimulation.
Toxicology Letters, 2003
The aim of the present study is to evaluate the influence of the genetic polymorphism of two enzy... more The aim of the present study is to evaluate the influence of the genetic polymorphism of two enzymes involved in the biotransformation of xenobiotics, cytochrome P450 1A1 (CYP1A1) and glutathione-S -transferase M1 (GSTM1), on the urinary levels of 1-hydroxypyrene (1-OH-P) in workers exposed to polycyclic aromatic hydrocarbons (PAHs) and in unexposed workers (controls). The study group consisted of 30 controls recruited among employees of a service company and 171 PAHs-exposed workers from two electric steel plants and an iron foundry (all males, ranging between 18 and 60 years of age). Determination of airborne PAHs and urinary 1-OH-P was performed by high-performance liquid chromatography (HPLC) with fluorimetric detection. Polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) was used to determine the genetic polymorphisms of CYP1A1 (CYP1A1*2A and CYP1A1*2B) and GSTM1. No influence of the genetic polymorphism of CYP1A1 and GSTM1 on the urinary levels of 1-OH-P was observed in this study. #
Giornale italiano di cardiologia
Aim of the present study was to compare the ability of low-dose (5-10 gamma/Kg/min) dobutamine ec... more Aim of the present study was to compare the ability of low-dose (5-10 gamma/Kg/min) dobutamine echocardiography (DE) and of positron emission tomography (PET), performed after a thrombolized acute myocardial infarction (AMI), to predict the spontaneous functional recovery (SFR) of viable but akinetic myocardial segments. Twenty-one pts were studied by DE, 10 +/- 2 days (DE1) and 31 +/- 2 days (DE2), after a thrombolized AMI, and by PET (18F-FDS, glucose load) within 7 days after DE2; a basal echo was also performed 3 months after AMI. The left ventricle was divided in 16 segments, both in echo and PET examination. DE viability was defined as improvement in wall motion of akinetic seg; PET viability was defined as an FDG uptake > or = 40% of the maximum. In the 89 akinetic segments, DE1, DE2 and PET, respectively, identified, 16, 27 and 60 viable segments; the concordance with PET, in viable and not viable segments, resulted of 50% for DE1 and of 62% for DE2. After 3 months 29/89 segments had a SFR. In comparison with SFR the sensitivity of DE1 and DE2 was lower (51% and 68%) than PET (89%); the specificity was higher for DE1 and DE2 (98% and 96%) respect to PET (43%). In comparison with DE performed 10 days after a thrombolized AMI, DE performed 30 days after AMI revealed a greater extension of viable myocardium and a greater diagnostic accuracy in predicting SFR of akinetic segments. The concordance between DE and PET is high, if all myocardial segments are considered, and lower, if only akinetic segments are considered; in fact, PET identifies, as viable, a greater number of segments. In comparison with SRF, DE revealed the greatest specificity and PET the greatest sensitivity.
Journal of the Neurological Sciences, 1997
Minerva cardioangiologica
The authors describe three cases of micro-Ebstein diagnosed using 2D-echocardiography in patients... more The authors describe three cases of micro-Ebstein diagnosed using 2D-echocardiography in patients affected by extrasystolic cardiopalm. The most important echocardiographic criterion for diagnosis was an apical displacement of the septal cusp of the tricuspid valve of at least 8 mm/m2 BA. It is generally reported that the severity of arrhythmias is independent of the degree of tricuspid malformation. The anatomical substrates of arrhythmias are persistent anomalous muscular by-passes between the atrium and the ventricles, and intrinsic anomaly of the right ventricular myocardium. For these reasons, it is necessary to follow-up patients and monitor arrhythmias using Holter-ECG. Echocardiography is now recognised as being the most important tool for the identification of this anomaly.
Human Molecular Genetics, 2006
Maintenance of X-inactivation is achieved through a combination of different repressive mechanism... more Maintenance of X-inactivation is achieved through a combination of different repressive mechanisms, thus perpetuating the silencing message through many cell generations. The second human X -Y pseudoautosomal region 2 (PAR2) is a useful model to explore the features and internal relationships of the epigenetic circuits involved in this phenomenon. Recently, we demonstrated that DNA methylation plays an essential role for the maintenance of X-and Y-inactivation of the PAR2 gene SYBL1; here we report that the silencing of the second repressed PAR2 gene, SPRY3, appears to be independent of DNA methylation. In contrast to SYBL1, the inactive X and Y alleles of SPRY3 are not reactivated in cells treated with a DNA methylation inhibitor and in cells from ICF (immunodeficiency, centromeric instability, facial anomalies) syndrome patients, which have mutations in the DNA methyltransferase gene DNMT3B. SPRY3 X-and Y-inactivation is associated with a differential enrichment of repressive histone modifications and the recruitment of Polycomb 2 group proteins compared to the active X allele. Another major factor in SPRY3 repression is late replication; the inactive X and Y alleles of SPRY3 have delayed replication relative to the active X allele, even in ICF syndrome cells where the closely linked SYBL1 gene is reactivated and advanced in replication. The relatively stable maintenance of SPRY3 silencing compared with SYBL1 suggests that genes without CpG islands may be less prone to reactivation than previously thought and that genes with CpG islands require promoter methylation as an additional layer of repression.
Minerva cardioangiologica
Two cases of embolic infective endocarditis on bicuspid aortic valve are described. The trans-tho... more Two cases of embolic infective endocarditis on bicuspid aortic valve are described. The trans-thoracic and trans-esophageal echocardiographic aspect could leave easily suppose the possibility of embolism. The prophylactic surgical treatment, during the active phase, also if the indication is debated, could have probably avoided the serious consequences of embolism.
Human Molecular Genetics, 2009
Sporadic amyotrophic lateral sclerosis (SALS) is a motor neuron degenerative disease of unknown e... more Sporadic amyotrophic lateral sclerosis (SALS) is a motor neuron degenerative disease of unknown etiology. Current thinking on SALS is that multiple genetic and environmental factors contribute to disease liability. Since neuronal acetylcholine receptors (nAChRs) are part of the glutamatergic pathway, we searched for sequence variants in CHRNA3, CHRNA4 and CHRNB4 genes, encoding neuronal nicotinic AChR subunits, in 245 SALS patients and in 450 controls. We characterized missense variants by in vitro mutagenesis, cell transfection and electrophysiology. Sequencing the regions encoding the intracellular loop of AChRs subunits disclosed 15 missense variants (6.1%) in 14 patients compared with only six variants (1.3%) in controls (P 5 0.001; OR 4.48, 95% CI 1.7 -11.8). The frequency of variants in exons encoding extracellular and transmembrane domains and in intronic regions did not differ. NAChRs formed by mutant a3 and a4 and wild-type (WT) b4 subunits exhibited altered affinity for nicotine (Nic), reduced use-dependent rundown of Nic-activated currents (I Nic ) and reduced desensitization leading to sustained intracellular Ca 21 concentration, in comparison with WT-nAChR. The cellular loop has a crucial importance for receptor trafficking and regulating ion channel properties. Missense variants in this domain are significantly over-represented in SALS patients and alter functional properties of nAChR in vitro, resulting in increased Ca 21 entry into the cells. We suggest that these gain-offunction variants might contribute to disease liability in a subset of SALS because Ca 21 signals mediate nAChR's neuromodulatory effects, including regulation of glutamate release and control of cell survival.
Minerva cardioangiologica
Two cases of left ventricular bands, detected by two-dimensional echocardiography, in two young m... more Two cases of left ventricular bands, detected by two-dimensional echocardiography, in two young men are described. In both cases anterior negative T waves were present. Therefore, the possible presence of these structures should always be investigated, by two-dimensional echocardiography, when anterior negative T waves are present in normal young people.