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268 results on '"Santangelo, L."'

13. An autosomal genetic linkage map of the chicken

Author

Levin, I., Santangelo, L., Cheng, H., Crittenden, L.B., and Dodgson, J.B.

Subjects
Chromosome mapping -- Research, Genetic markers -- Analysis, Biological sciences
Abstract

The chicken gene autosomal genetic linkage map is constructed using a 52 DNA subpanel from a backcross population and contains about 590 cM within linkage groups. Almost 70% of the randomly chosen markers fall within one of the groups. Seventy two markers are distributed among 19 linkage groups, of which four belong to chromosomes 1, 4 and 17. The original population consists of a cross of inbred Red Jungle Fowl male and inbred White Leghorn female.

Published
1994

16. Benchmarking a Hemodynamics Application on Intel Based HPC Systems

Author

Auricchio, F., Fedele, M., Ferretti, M., Lefieux, A., Romarowski, R., Santangelo, L., and Veneziani, A.

Subjects
Parallel architectures, tracer tools, memory footprint, tightly-coupled applications, vectorization, bottlenecks, MPI, profiler tools, MPI latency, scalability, LifeV
Published
2018

18. Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants

Author

Gigante, M., Diella, S., Santangelo, L., Trevisson, E., Acosta, M. J., Amatruda, M., Finzi, G., Caridi, G., Murer, L., Accetturo, M., Ranieri, E., Ghiggeri, G. M., Giordano, M., Grandaliano, Giuseppe, Salviati, L., and Gesualdo, L.

Subjects
Male, Mitochondrial Diseases, Muscle Weakness, Nephrotic Syndrome, Ubiquinone, DNA Mutational Analysis, COQ2, yeast model, COQ6, Pedigree, Coenzyme Q10 deficiency, Mutation, Humans, Settore MED/14 - NEFROLOGIA, Ataxia, Computer Simulation, Female, Steroid Resistant Nephrotic Syndrome
Published
2017

19. Cardiac resynchronization therapy in cardiomyopathies

Author

Masarone D, Ammendola E, Del Giorno G, Colimodio F, D'Andrea A, Pacileo G, Santangelo L, Lambiase P.D., LIMONGELLI, Giuseppe, Masarone, D, Limongelli, Giuseppe, Ammendola, E, Del Giorno, G, Colimodio, F, D'Andrea, A, Pacileo, G, Santangelo, L, and Lambiase, P. D.

Published
2014

20. The RNA binding protein SYNCRIP controls microRNAs sorting in exosomes

Author

Santangelo*, L., Giurato*, G., Cicchini, Carla, Montaldo, C., Mancone, Carmine, Tarallo, R., Battistelli, Cecilia, Alonzi, T., Weisz, A., and Tripodi, Marco

Subjects
Cell Communication, Cell Adhesion and Membrane Trafficking, Cell Adhesion and Membrane Trafficking, Cell Communication
Published
2016

23. Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia

Author

Gigante, M., Santangelo, L., Diella, S., Caridi, G., Argentiero, L., D'Alessandro, M. M., Martino, M., Stea, E. D., Ardissino, G., Carbone, V., Pepe, S., Scrutinio, D., Maringhini, S., Ghiggeri, G. M., Grandaliano, Giuseppe, Giordano, M., and Gesualdo, L.

Subjects
Adult, Male, Middle Aged, Nephrolithiasis, Pedigree, Cohort Studies, Nephrocalcinosis, Young Adult, CYP24A1, Italy, Hypercalcemia, Mutation, PTH, Child, Child, Preschool, Female, Humans, Vitamin D3 24-Hydroxylase, Settore MED/14 - NEFROLOGIA, Preschool
Abstract

Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1 gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercalcemia (IIH).We performed mutational screening of CYP24A1 gene in a cohort of 12 Italian patients: 8 children with nephrocalcinosis, hypercalcemia and PTH levels10 pg/ml and 4 adult patients with nephrolithiasis, mild hypercalcemia and PTH levels10 pg/ml from 11 unrelated Italian families. Clinical and biochemical data were collected. Genomic DNA was extracted from peripheral blood leucocytes using standard methods, and whole coding sequence of CYP24A1 gene was analysed in all patients and family members by polymerase chain reaction and direct sequencing. The potential pathogenicity of the newly identified missense mutations was evaluated by 3 different in silico approaches (Sorting Intolerant from Tolerant, Polyphen and Mutation Taster) and by comparative analysis in 14 different species using ClustalW software.CYP24A1 bi-allelic mutations were found in 8 individuals from 7 Italian families (7/11; 64%). Overall, 6 different CYP24A1 mutations, including one small deletion (p.Glu143del), 4 missense mutations (p.Leu148Pro; p.Arg396Trp; p.Pro503Leu; p.Glu383Gln) and one nonsense mutation (p.Tyr220*) were identified. Two out of 6 mutations (p.Tyr220* and p.Pro503Leu) were not previously described. Moreover, a new CYP24A1 variant was identified by genetic screening of asymptomatic controls.To the best of our knowledge, this is the first report of a CYP24A1 molecular analysis performed in an Italian cohort of adult and pediatric Italian patients. This study (1) confirms that CYP24A1 plays a causal role in some but not all cases of IIH (64%); (2) expands the spectrum of known CYP24A1 pathogenic mutations; (3) describes 2 hotspots detected in 50% of all Italian cases; and (4) emphasizes the importance of recognition and genetic diagnosis of CYP24A1 defects in infantile as well as adult hypercalcemia.

Published
2015

24. Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants

Author

Gigante, M., primary, Diella, S., additional, Santangelo, L., additional, Trevisson, E., additional, Acosta, M.J., additional, Amatruda, M., additional, Finzi, G., additional, Caridi, G., additional, Murer, L., additional, Accetturo, M., additional, Ranieri, E., additional, Ghiggeri, G.M., additional, Giordano, M., additional, Grandaliano, G., additional, Salviati, L., additional, and Gesualdo, L., additional

Published
2017
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25. Efficacy and safety of dabigatran in a 'real-life' population at high thromboembolic and hemorrhagic risk: data from MonaldiCare registry

Author

Russo V, Bianchi V, Cavallaro C, Vecchione F, De Vivo S, Santangelo L, Sarubbi B, paolo calabrò, Nigro G, D'Onofrio A, Russo, V, Bianchi, V, Cavallaro, C, Vecchione, F, De Vivo, S, Santangelo, Lucio, Sarubbi, B, Calabro', Paolo, Nigro, Gerardo, and D'Onofrio, A.

Subjects
Male, Hemorrhage, Middle Aged, Antithrombins, Dabigatran, Cohort Studies, Stroke, Treatment Outcome, Italy, Risk Factors, Population Surveillance, Thromboembolism, Atrial Fibrillation, Prevalence, cardiovascular system, Humans, Female, Prospective Studies, Registries, cardiovascular diseases, Dyspepsia, Aged, Follow-Up Studies
Abstract

Dabigatran is a novel target specific oral anticoagulant for stroke prevention in non valvular atrial fibrillation. Little is still known about its real-world effectiveness and safety in the italian population. Aim of our study was to evaluate the efficacy and safety of dabigatran in a large single-center cohort of "real-life" italian population with non-valvular AF and to compare the results with those obtained from the RE-LY trial and the Medicare study.We studied a prospective cohort of 2108 patients (1119 male; mean age 69.4 ± 9.4 years) who started the oral anticoagulant treatment with dabigatran 110 mg twice-daily (DAB 110; N = 1075; 51%) or 150 mg twice-daily (DAB 150; N = 1033; 49%). Follow-up data were obtained trough outpatients visits each 3-6 months for assessing the clinical status, adherence to treatment, occurrence of side effects and major cardiovascular complications.In DAB 150 group the mean age was 64.9 ± 8.8 years, 56.8% of patients was male. CHA2DS2Vasc Score was ≥ 3 in 94.3% and HAS-BLED was ≥ 3 in 59.7%. In DAB 110 group (N = 1075) the mean age was 73.9 ± 7.5 years; 49.5% of patients was male. CHA2DS2Vasc Score was ≥ 3 in 73.4% and HAS-BLED was ≥ 3 in 87.4% of DAB 110 patients. One patient taking Dabigatran 110 mg bid had ischemic stroke without significantly neurological sequelae. In both groups, no patient experienced hemorrhagic stroke during the follow-up period. 147 patients (6.9%) of MonaldiCare population reported adverse effects from treatment with dabigatran, of whom 121 patients (5.7%) discontinued therapy. We reported one case of subarachnoid hemorrhage (0.05%) in a patient with high thrombo-embolic and high hemorrhagic risk score who was taking dabigatran 150 mg bid and one case (0.05%) of bladder bleeding in a patient who was taking dabigatran 110 mg bid. No major gastrointestinal bleeding was observed in the MonaldiCare population.MonaldiCare registry showed a safety profile of both dosages of dabigatran regarding major of fatal bleeding in a "real life" single center italian population at high thromboembolic and hemorrhagic risk. The majority of MonaldiCare patients tolerated dabigatran treatment without significant side effects. The efficacy of dabigatran was demonstrated by very low prevalence of ictus/TIA, also when patients underwent electrical AF cardioversion independently of the transesophageal examination.

Published
2015

26. La Morte Cardiaca Improvvisa: cosa il cardiologo deve sapere (Sudden Cardiac Death: what a cardiologist should know)

Author

Masarone D, Maddaloni V, D'Alessandro R, Valente F, Buono A, Vastarella R, Longo V, Pazzanese V, Calvanese C, Scotto Di Minico A, Gravino R, Rea A, Salerno G, Scarafile R, Del Giorno G, Ammendola E, Santangelo L, Calabro' R, Pacileo G., LIMONGELLI, Giuseppe, Masarone, D, Limongelli, Giuseppe, Maddaloni, V, D'Alessandro, R, Valente, F, Buono, A, Vastarella, R, Longo, V, Pazzanese, V, Calvanese, C, Scotto Di Minico, A, Gravino, R, Rea, A, Salerno, G, Scarafile, R, Del Giorno, G, Ammendola, E, Santangelo, L, Calabro', R, and Pacileo, G.

Published
2012

28. Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia

Author

Gigante, M., Santangelo, L., Diella, S., Caridi, G., Argentiero, L., D''Alessandro, M. M., Martino, M., Stea, E. D., Ardissino, G., Carbone, V., Pepe, S., Scrutinio, D., Maringhini, S., Ghiggeri, G. M., Grandaliano, Giuseppe, Giordano, M., Gesualdo, L., Grandaliano G. (ORCID:0000-0003-1213-2177), Gigante, M., Santangelo, L., Diella, S., Caridi, G., Argentiero, L., D''Alessandro, M. M., Martino, M., Stea, E. D., Ardissino, G., Carbone, V., Pepe, S., Scrutinio, D., Maringhini, S., Ghiggeri, G. M., Grandaliano, Giuseppe, Giordano, M., Gesualdo, L., and Grandaliano G. (ORCID:0000-0003-1213-2177)

Abstract

Background/Aims: Loss-of-function mutations in the CYP24A1 gene, which encodes the vitamin D-24 hydroxylase, have been recognized as a cause of elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrocalcinosis and nephrolithiasis in infants and adults. As only a case report describing 2 adult patients has been reported in Italian population, we report here the mutation analysis of CYP24A1 gene in an Italian cohort of 12 pediatric and adult patients with idiopathic infantile hypercal-cemia (IIH). Methods: We performed mutational screeningof CYP24A1 gene in a cohort of 12 Italian patients: 8 children ith nephrocalcinosis, hypercalcemia and PTH levels <10 pg/ml and 4 adult patients with nephrolithiasis, mild hypercalcemia and PTH levels <10 pg/ml from 11 unrelated Italian families. Clinical and biochemical data were collected. Genomic DNA was extracted from peripheral blood leucocytes using standard methods, and whole coding sequence of CYP24A1 gene was analysed in all patients and family membersby polymerase chain reaction and direct sequencing. The potential pathogenicity of the newly identified missense mutations was evaluated by 3 different in silico approaches(Sorting Intolerant from Tolerant, Polyphen and Mutation Taster) and by comparative analysis in 14 different species using ClustalW software. Results: CYP24A1 bi-allelic muta

Published
2016

39. The QT dispersion in the risk stratification of sudden death in Becker patients

Author

NIGRO GE, NIGRO, Gerardo, POLITANO, Luisa, SANTANGELO L, PETRETTA V, PASSAMANO L, PANICO F, DE LUCA F, MONTEFUSCO A, COMI LI, V. Dubowitz, V.Dubowitz, Nigro, Ge, Nigro, Gerardo, Politano, Luisa, Santangelo, L, Petretta, V, Passamano, L, Panico, F, DE LUCA, F, Montefusco, A, and Comi, Li

Subjects
Becker muscular Dystrophy, QT dispersion, arrhythmyas
Published
2001

47. Mechanisms controlling liver stem fate

Author

Santangelo, L, Cicchini, Carla, Marchetti, Alessandra, Conigliaro, Alice, Alonzi, T, Mancone, Carmine, Amicone, Laura, and Tripodi, Marco

Published
2010

49. Reproducibility of electrocardiographic findings in patients with suspected reflex neurally-mediated syncope

Author

Brignole, M, Sutton, R, Menozzi, C, Moya, A, Garcia-Civera, R, G Benditt, D, Vardas, P, Wieling, W, Andresen, D, Migliorini, R, Hollinworth, D, Grovale, N, Zanna, F, P Lopez, M, Mohammad, S, Guthmann, A, Manders, M, D Van Aggel, Erckens, D, Andersen, V, Sousani, E, Eppacher, C, J St Ores, T De Santo, Bottoni, N, Ammirati, F, Santini, M, Donateo, P, Reviele, A, Giada, F, Orazi, S, Alboni, P, Dinelli, M, Perego, G, Brambilla, R, A Del Rosso, Vincenti, A, S De Ceglia, Sassone, B, T Baratto, M, Ungar, A, Currò, S, Gulizia, M, Francese, M, Pandolfo, L, Burattini, M, Cornacchia, D, Casali, E, Giani, P, Santangelo, L, Panico, S, G De Marchi, Marchetti, A, Buja, G, Folino, F, Spampinato, A, Bruni, G, Lunati, M, Buttera, G, García-Civera, R, Morell, S, Ruiz, R, Sanjuan, R, F Garcia-Sacristan, J, Beiras, X, Campos, G, Alonso, C, Garcia-Alberola, A, Lacuna, J, P Villacastín, J, Castellanos, P, Roda, J, Palanca, V, Martí, J, Delclós, J, Alvarez, M, Tercedor, L, Castellanos, E, Mauri, T, F Lozano, I, Tomás, J, Bènèzet, J, Fidalgo, M, G Martinez, J, Herreros, B, Muñoz, F, A J, J Aerts, L V, A Boersma, M Schroeder-Tanka, J, R Van Mechelen, H Ruiter, J, Ehlers, C, Meinerts, T, Schuchert, A, Vieth, T, Reithmann, C, P Von Lowis, Cripps, T, Sulke, N, A Kenny, R, D Skehan, J, Paul, V, Wrigley, M, E Louridas, G, Vasilikos, V, N Jakobsen, T, H Simonsen, E, B Johansen, J, W Grander Affiliation, ACS - Amsterdam Cardiovascular Sciences, and General Internal Medicine

Subjects
Male, medicine.medical_specialty, Socio-culturale, Neurological disorder, Ventricular tachycardia, Electrocardiography, Internal medicine, medicine, Syncope, Vasovagal, Humans, Sinus rhythm, Prospective Studies, cardiovascular diseases, Asystole, Prospective cohort study, medicine.diagnostic_test, biology, business.industry, Syncope (genus), Reproducibility of Results, Middle Aged, medicine.disease, biology.organism_classification, Electrocardiographic Finding, Anesthesia, Cardiology, cardiovascular system, Female, Cardiology and Cardiovascular Medicine, business
Abstract

The reproducibility of electrocardiographic (ECG) recordings in syncopal recurrences and the diagnostic role of nonsyncopal arrhythmias are not well known. The objective of this study was to analyse the reproducibility of the ECG findings recorded with implantable loop recorders in 41 patients with suspected neurally-mediated syncope who were included in the International Study on Syncope of Uncertain Origin-2 study and that had > or =2 events recorded by implantable loop recorders. In these patients, the electrocardiogram obtained with the first documented syncope (index syncope) was compared with other recorded events. Twenty-two patients had > or =2 syncopes, and their electrocardiograms were reproducible in 21 (95%): 15 with sinus rhythm, 5 with asystole, and 1 with ventricular tachycardia; 1 had asystole at first syncope and sinus rhythm at recurrent syncope. In 32 patients with nonsyncopal episodes, an arrhythmia was documented in 9, and all of them had the same arrhythmia during the index syncope (100% reproducibility); conversely, when sinus rhythm was documented (23 patients) during nonsyncopal episodes, an arrhythmia was still documented in 6 during the index syncope (70% reproducibility; p = 0.0004). In conclusion, the ECG findings during the first syncope are highly reproducible in subsequent syncopes. The presence of an arrhythmia during nonsyncopal episodes is also highly predictive of the mechanism of syncope, but the presence of sinus rhythm does not rule out the possibility of arrhythmia during syncope. Therefore the finding of an arrhythmia during a nonsyncopal episode allows the etiologic diagnosis of syncope, and eventually to anticipate treatment, without waiting for syncope

Published
2008

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