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6. Adaptive changes in pancreatic beta cell fractional area and beta cell turnover in human pregnancy

Author

Butler, A. E., Cao-Minh, L., Galasso, R., Rizza, R. A., Corradin, A., Cobelli, C., and Butler, P. C.

Subjects
Medicine & Public Health, Human Physiology, Metabolic Diseases, Internal Medicine, Human, Islet, Pancreas, Pregnancy
Abstract

We sought to establish the extent and basis for adaptive changes in beta cell numbers in human pregnancy.Pancreas was obtained at autopsy from women who had died while pregnant (n = 18), post-partum (n = 6) or were not pregnant at or shortly before death (controls; n = 20). Pancreases were evaluated for fractional pancreatic beta cell area, islet size and islet fraction of beta cells, beta cell replication (Ki67) and apoptosis (TUNEL), and indirect markers of beta cell neogenesis (insulin-positive cells in ducts and scattered beta cells in pancreas).The pancreatic fractional beta cell area was increased by ∼1.4-fold in human pregnancy, with no change in mean beta cell size. In pregnancy there were more small islets rather than an increase in islet size or beta cells per islet. No increase in beta cell replication or change in beta cell apoptosis was detected, but duct cells positive for insulin and scattered beta cells were increased with pregnancy.The adaptive increase in beta cell numbers in human pregnancy is not as great as in most reports in rodents. This increase in humans is achieved by increased numbers of beta cells in apparently new small islets, rather than duplication of beta cells in existing islets, which is characteristic of pregnancy in rodents.

Published
2010

7. Pancreatic duct replication is increased with obesity and type 2 diabetes in humans

Author

Butler, A. E., Galasso, R., Matveyenko, A., Rizza, R. A., Dry, S., and Butler, P. C.

Subjects
Medicine & Public Health, Human Physiology, Metabolic Diseases, Internal Medicine, DPP-IV inhibitor, GLP-1, Obesity, Pancreatic cancer, Pancreatic ductal, Pancreatitis
Abstract

In a high-fat-fed rat model of type 2 diabetes we noted increased exocrine duct replication. This is a predisposing factor for pancreatitis and pancreatic cancer, both of which are more common in type 2 diabetes. The aim of the study reported here was to establish if obesity and/or type 2 diabetes are associated with increased pancreatic ductal replication in humans.We obtained pancreas at autopsy from 45 humans, divided into four groups: lean (BMI 27 kg/m2); non-diabetic; and with type 2 diabetes. Pancreases were evaluated after immunostaining for the duct cell marker cytokeratin and Ki67 for replication.We show for the first time that both obesity and type 2 diabetes in humans are associated with increased pancreatic ductal replication. Specifically, we report that (1) replication of pancreatic duct cells is increased tenfold by obesity, and (2) lean subjects with type 2 diabetes demonstrate a fourfold increase in replication of pancreatic duct cells compared with their lean non-diabetic controls.Pancreatic duct cell replication is increased in humans in response to both obesity and type 2 diabetes, potentially providing a mechanism for the increased risk of pancreatitis and pancreatic cancer in those with obesity and/or type 2 diabetes.

Published
2010

8. Glycemic Control and Urinary Tract Infections in Women with Type 1 Diabetes: Results from the DCCT/EDIC

Author

Nathan, D.M., Zinman, B., Crofford, O., Genuth, S., Brown-Friday, J., Crandall, J., Engel, H., Engel, S., Martinez, H., Phillips, M., Reid, M., Shamoon, H., Sheindlin, J., Gubitosi-Klug, R., Mayer, L., Pendegast, S., Zegarra, H., Miller, D., Singerman, L., Smith-Brewer, S., Novak, M., Quin, J., Genuth, Saul, Palmert, M., Brown, E., McConnell, J., Pugsley, P., Crawford, P., Dahms, W., Brillon, D., Lackaye, M.E., Kiss, S., Chan, R., Orlin, A., Rubin, M., Reppucci, V., Lee, T., Heinemann, M., Chang, S., Levy, B., Jovanovic, L., Richardson, M., Bosco, B., Dwoskin, A., Hanna, R., Barron, S., Campbell, R., Bhan, A., Kruger, D., Jones, J.K., Edwards, P.A., Carey, J.D., Angus, E., Thomas, A., Galprin, A., McLellan, M., Whitehouse, F., Bergenstal, R., Johnson, M., Gunyou, K., Thomas, L., Laechelt, J., Hollander, P., Spencer, M., Kendall, D., Cuddihy, R., Callahan, P., List, S., Gott, J., Rude, N., Olson, B., Franz, M., Castle, G., Birk, R., Nelson, J., Freking, D., Gill, L., Mestrezat, W., Etzwiler, D., Morgan, K., Aiello, L.P., Golden, E., Arrigg, P., Asuquo, V., Beaser, R., Bestourous, L., Cavallerano, J., Cavicchi, R., Ganda, O., Hamdy, O., Kirby, R., Murtha, T., Schlossman, D., Shah, S., Sharuk, G., Silva, P., Silver, P., Stockman, M., Sun, J., Weimann, E., Wolpert, H., Aiello, L.M., Jacobson, A., Rand, L., Rosenzwieg, J., Larkin, M.E., Christofi, M., Folino, K., Godine, J., Lou, P., Stevens, C., Anderson, E., Bode, H., Brink, S., Cornish, C., Cros, D., Delahanty, L., deManbey, A., Haggan, C., Lynch, J., McKitrick, C., Norman, D., Moore, D., Ong, M., Taylor, C., Zimbler, D., Crowell, S., Fritz, S., Hansen, K., Gauthier-Kelly, C., Service, F.J., Ziegler, G., Colligan, R., Schmidt, L., French, B., Woodwick, R., Rizza, R., Schwenk, W.F., Haymond, M., Pach, J., Mortenson, J., Zimmerman, B., Lucas, A., Luttrell, L., Lopes-Virella, M., Caulder, S., Pittman, C., Patel, N., Lee, K., Nutaitis, M., Fernandes, J., Hermayer, K., Kwon, S., Blevins, A., Parker, J., Colwell, J., Lee, D., Soule, J., Lindsey, P., Bracey, M., Farr, A., Elsing, S., Thompson, T., Selby, J., Lyons, T., Yacoub-Wasef, S., Szpiech, M., Wood, D., Mayfield, R., Molitch, M., Adelman, D., Colson, S., Jampol, L., Lyon, A., Gill, M., Strugula, Z., Kaminski, L., Mirza, R., Simjanoski, E., Ryan, D., Johnson, C., Wallia, A., Ajroud-Driss, S., Astelford, P., Leloudes, N., Degillio, A., Schaefer, B., Mudaliar, S., Lorenzi, G., Goldbaum, M., Jones, K., Prince, M., Swenson, M., Grant, I., Reed, R., Lyon, R., Kolterman, O., Giotta, M., Clark, T., Friedenberg, G., Sivitz, W.I., Vittetoe, B., Kramer, J., Bayless, M., Zeitler, R., Schrott, H., Olson, N., Snetselaar, L., Hoffman, R., MacIndoe, J., Weingeist, T., Fountain, C., Mendley, S., Johnsonbaugh, S., Patronas, M., Carney, M., Salemi, P., Liss, R., Hebdon, M., Counts, D., Donner, T., Gordon, J., Hemady, R., Kowarski, A., Ostrowski, D., Steidl, S., Jones, B., Herman, W.H., Martin, C.L., Pop-Busui, R., Greene, D.A., Stevens, M.J., Burkhart, N., Sandford, T., Floyd, J., Bantle, J., Wimmergren, N., Terry, J., Koozekanani, D., Montezuma, S., Rogness, B., Mech, M., Strand, T., Olson, J., McKenzie, L., Kwong, C., Goetz, F., Warhol, R., Hainsworth, D., Goldstein, D., Hitt, S., Giangiacomo, J., Schade, D.S., Canady, J.L., Burge, M.R., Das, A., Avery, R.B., Ketai, L.H., Chapin, J.E., Schluter, M.L., Rich, J., Johannes, C., Hornbeck, D., Schutta, M., Bourne, P.A., Brucker, A., Braunstein, S., Schwartz, S., Maschak-Carey, B.J., Baker, L., Orchard, T., Cimino, L., Songer, T., Doft, B., Olson, S., Becker, D., Rubinstein, D., Bergren, R.L., Fruit, J., Hyre, R., Palmer, C., Silvers, N., Lobes, L., Rath, P. Paczan, Conrad, P.W., Yalamanchi, S., J.Wesche, Bratkowksi, M., Arslanian, S., Rinkoff, J., Warnicki, J., Curtin, D., Steinberg, D., Vagstad, G., Harris, R., Steranchak, L., Arch, J., Kelly, K., Ostrosaka, P., Guiliani, M., Good, M., Williams, T., Olsen, K., Campbell, A., Shipe, C., Conwit, R., Finegold, D., Zaucha, M., Drash, A., Morrison, A., Malone, J.I., Bernal, M.L., Pavan, P.R., Grove, N., Tanaka, E.A., McMillan, D., Vaccaro-Kish, J., Babbione, L., Solc, H., DeClue, T.J., Dagogo-Jack, S., Wigley, C., Ricks, H., Kitabchi, A., Chaum, E., Murphy, M.B., Moser, S., Meyer, D., Iannacone, A., Yoser, S., Bryer-Ash, M., Schussler, S., Lambeth, H., Raskin, P., Strowig, S., Basco, M., Cercone, S., Barnie, A., Devenyi, R., Mandelcorn, M., Brent, M., Rogers, S., Gordon, A., Bakshi, N., Perkins, B., Tuason, L., Perdikaris, F., Ehrlich, R., Daneman, D., Perlman, K., Ferguson, S., Palmer, J., Fahlstrom, R., de Boer, I.H., Kinyoun, J., Van Ottingham, L., Catton, S., Ginsberg, J., McDonald, C., Harth, J., Driscoll, M., Sheidow, T., Mahon, J., Canny, C., Nicolle, D., Colby, P., Dupre, J., Hramiak, I., Rodger, N.W., Jenner, M., Smith, T., Brown, W., May, M., Hagan, J. Lipps, Agarwal, A., Adkins, T., Lorenz, R., Feman, S., Survant, L., White, N.H., Levandoski, L., Grand, G., Thomas, M., Joseph, D., Blinder, K., Shah, G., Burgess, D., Boniuk, I., Santiago, J., Tamborlane, W., Gatcomb, P., Stoessel, K., Ramos, P., Fong, K., Ossorio, P., Ahern, J., Beck, C., Gaston, P., Trail, R., Lachin, J., Cleary, P., Backlund, J., Bebu, I., Braffett, B., Diminick, L., Gao, X., Hsu, W., Klumpp, K., Larsen, M., McGee, P., Sun, W., Villavicencio, S., Anderson, K., Dews, L., Younes, Naji, Rutledge, B., Chan, K., Rosenberg, D., Petty, B., Determan, A., Kenny, D., Williams, C., Cowie, C., Siebert, C., Steffes, M., Arends, V., Bucksa, J., Nowicki, M., Chavers, B., O’Leary, D., Polak, J., Harrington, A., Funk, L., Crow, R., Gloeb, B., Thomas, S., O’Donnell, C., Soliman, E.Z., Zhang, Z.M., Li, Y., Campbell, C., Keasler, L., Hensley, S., Hu, J., Barr, M., Taylor, T., Prineas, R., Feldman, E.L., Albers, J.W., Low, P., Sommer, C., Nickander, K., Speigelberg, T., Pfiefer, M., Schumer, M., Moran, M., Farquhar, J., Ryan, C., Sandstrom, D., Geckle, M., Cupelli, E., Thoma, F., Burzuk, B., Woodfill, T., Danis, R., Blodi, B., Lawrence, D., Wabers, H., Gangaputra, S., Neill, S., Burger, M., Dingledine, J., Gama, V., Sussman, R., Davis, M., Hubbard, L., Budoff, M., Darabian, S., Rezaeian, P., Wong, N., Fox, M., Oudiz, R., Kim, L., Detrano, R., Cruickshanks, K., Dalton, D., Bainbridge, K., Lima, J., Bluemke, D., Turkbey, E., van der Geest, R.J., Liu, C., Malayeri, A., Jain, A., Miao, C., Chahal, H., Jarboe, R., Monnier, V., Sell, D., Strauch, C., Hazen, S., Pratt, A., Tang, W., Brunzell, J., Purnell, J., Natarajan, R., Miao, F., Zhang, L., Chen, Z., Paterson, A., Boright, A., Bull, S., Sun, L., Scherer, S., Lyons, T.J., Jenkins, A., Klein, R., Virella, G., Jaffa, A., Carter, R., Stoner, J., Garvey, W.T., Lackland, D., Brabham, M., McGee, D., Zheng, D., Mayfield, R.K., Maynard, J., Wessells, H., Sarma, A., Dunn, R., Holt, S., Hotaling, J., Kim, C., Clemens, Q., Brown, J., McVary, K., Lenherr, Sara M., Clemens, J. Quentin, Braffett, Barbara H., Cleary, Patricia A., Dunn, Rodney L., Hotaling, James M., Jacobson, Alan M., Kim, Catherine, Herman, William, Brown, Jeanette S., Wessells, Hunter, and Sarma, Aruna V.

Published
2016
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12. Who receives occupational welfare? The importance of skills across Europe’s diverse industrial relations regimes

Author

Riva, E, Rizza, R, Riva, Egidio, Rizza, Roberto, Riva, E, Rizza, R, Riva, Egidio, and Rizza, Roberto

Abstract

This study investigates the association between eligibility for occupational welfare and employees’ skill levels. In particular, building on Visser’s classification, we explore (i) the extent to which this relationship is moderated by industrial relations regimes and (ii) whether the moderating effect of industrial relations regimes has changed over time. Analyses draw on the latest three waves (2005, 2010, 2015) of the European Working Conditions Survey, and consider a nationally representative sample (N= 64,122) of employees in 30 European countries (the then 28 EU Member States plus Norway and Turkey). Findings indicate a significant, persistent skill-biased disparity in access to occupational welfare in any industrial relations regime, with the only exception of the organised corporatism regime (that is, the Nordic countries).

Published
2021

13. When the workplace is the home: Labour inspectors' discretionary power in the field of domestic work - An institutional analysis

Author

Paraciani, Rebecca, Rizza, Roberta, Paraciani R. (ORCID:0000-0001-9863-4025), Rizza R., Paraciani, Rebecca, Rizza, Roberta, Paraciani R. (ORCID:0000-0001-9863-4025), and Rizza R.

Abstract

This article builds on previous studies concerning the question of street-level bureaucracy, an expression coined by Lipsky (1980) - Street-Level Bureaucracy. Dilemmas of the Individual in Public Services (New York: Russel Sage Foundation) - to highlight the importance of the discretionary power that professionals in public agencies exercise during the implementation of laws, standards and guidelines. Discretion may depend on the need to compromise between the limited resources available and the claims of citizens, or between administrative policy directives and assessments, on the one hand, and their interpretation by street-level bureaucrats, on the other. This article focuses on the dilemmas that labour inspectors face when dealing with employment irregularities involving domestic workers. Based on nine months of observations in a local office of the Italian Labour Inspectorate, it aims to understand how labour inspectors make use of their discretionary power when theworkplace is the home. This article connects studies of street-level bureaucracy with the new institutional organisational analysis, focusing on the isomorphic pressures from the institutional fieldin which the labour inspectors operate, together with the manner in which such pressures shape labour inspectors' discretion. Through this connection, the article aims to extend the scope of both theories.

Published
2021

26. A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1

Author

Corsello, Andrea, Bruno, Carmine, Rizza, Roberta, Concolino, Paola, Papi, Giampaolo, Pontecorvi, Alfredo, Rindi, Guido, Paragliola, Rosa Maria, Corsello A., Bruno C., Rizza R., Concolino P., Papi G., Pontecorvi A. (ORCID:0000-0003-0570-6865), Rindi G. (ORCID:0000-0003-2996-4404), Paragliola R. M. (ORCID:0000-0002-5070-7771), Corsello, Andrea, Bruno, Carmine, Rizza, Roberta, Concolino, Paola, Papi, Giampaolo, Pontecorvi, Alfredo, Rindi, Guido, Paragliola, Rosa Maria, Corsello A., Bruno C., Rizza R., Concolino P., Papi G., Pontecorvi A. (ORCID:0000-0003-0570-6865), Rindi G. (ORCID:0000-0003-2996-4404), and Paragliola R. M. (ORCID:0000-0002-5070-7771)

Abstract

The multiple endocrine neoplasia type 1 (MEN1) is a rare syndrome characterized by the predisposition to developing multiple endocrine and non-endocrine tumors, typically characterized by the association between parathyroid gland hyperplasia or tumors, gastroenteropancreatic tumors and pituitary adenomas. The MEN1 gene is located on the long arm of chromosome 11 (11q13) and it encodes for the protein “menin”. We here reported the case of a MEN1-patient, affected by primary hyperparathyroidism, insulinoma, pituitary non-hyperfunctioning adenoma and bilateral adrenal masses, carrying a novel heterozygous pathogenic variant (c.1252_1254delGACinsAT), located in exon 9 of MEN1 gene.

Published
2020

27. Ispettori del lavoro e street-level bureaucracy. Gestire le irregolarità lavorative tra spinte isomorfe e spazi discrezionali

Author

Paraciani, Rebecca, Rizza, R., Paraciani R. (ORCID:0000-0001-9863-4025), Paraciani, Rebecca, Rizza, R., and Paraciani R. (ORCID:0000-0001-9863-4025)

Abstract

This article builds on previous studies concerning street-level bureaucracy (SLB), an expression coined by Lipsky to highlight the importance of the discretionary power that professionals in public agencies exercise during the implementation of laws, standards and guidelines. Connecting SLB theoretical framework and the new institutional organizational analysis, this article puts in how labour inspectors use their discretionary power when dealing with similar work irregularities in different organizational fields. Based on 9 months of participant observations and vignette interviews in a local office of the Italian Labour Inspectorate, the article aims to extend the range of both theories.

Published
2020

28. Spectrum of germline BRCA1 and BRCA2 variants identified in 2351 ovarian and breast cancer patients referring to a reference cancer hospital of Rome

Author

Santonocito, Concetta, Rizza, Roberta, Paris, Ida, De Marchis, L., Paolillo, C., Tiberi, G., Scambia, Giovanni, Capoluongo, Ettore Domenico, Santonocito C. (ORCID:0000-0003-3624-1386), Rizza R., Paris I., Scambia G. (ORCID:0000-0003-2758-1063), Capoluongo E. (ORCID:0000-0001-9872-0572), Santonocito, Concetta, Rizza, Roberta, Paris, Ida, De Marchis, L., Paolillo, C., Tiberi, G., Scambia, Giovanni, Capoluongo, Ettore Domenico, Santonocito C. (ORCID:0000-0003-3624-1386), Rizza R., Paris I., Scambia G. (ORCID:0000-0003-2758-1063), and Capoluongo E. (ORCID:0000-0001-9872-0572)

Abstract

Pathogenic variants (PVs) carriers in BRCA1 or BRCA2 are associated with an elevated lifetime risk of developing breast cancer (BC) and/or ovarian cancer (OC). The prevalence of BRCA1 and BRCA2 germline alterations is extremely variable among different ethnic groups. Particularly, the rate of variants in Italian BC and/or OC families is rather controversial and ranges from 8% to 37%, according to different reports. By In Vitro Diagnostic (IVD) next generation sequencing (NGS)‐based pipelines, we routinely screened thousands of patients with either sporadic or cancer family history. By NGS, we identified new PVs and some variants of uncertain significance (VUS) which were also evaluated in silico using dedicated tools. We report in detail data regarding BRCA1/2 variants identified in 517 out of 2351 BC and OC patients. The aim of this study was to report the incidence and spectrum of BRCA1/2 variants observed in BC and/or OC patients, tested in at Policlinico Gemelli Foundation Hospital, the origin of which is mainly from Central and Southern Italy. This study provides an overview of the variant frequency in these geographic areas of Italy and provides data that could be used in the clinical management of patients.

Published
2020

29. Irish endocrine society: Proceedings of the 16th Annual General Meeting held at the Ulster Hospital, Dundonald on November 1/2,1991

Author

Smyth, P. P. A., Lazarus, J. H., Parkes, A. B., Hetherton, A. M., Ndiaye, M., Devlin, J. G., Brosnan, E., Lee, P., Paton, C., Burke, C., Jenkins, A. J., Steele, J. S., Janus, E. D., Santamaria, J. D., Best, J. D., Beatty, O. L., Atkinson, A. B., Browne, J., Clarke, K., Sheridan, B., Bell, P. M., McCance, D. R., Russell, C. F. J., Kennedy, T. L., Hadden, D. R., Kennedy, L., Young, I. S., Torney, J. J., Trimble, E. R., Qiu, H. X., Zhang, S. H., Johnston, C. F., Buchanan, K. D., Cunningham, S. K., MKenna, T. J., Rooney, D. P., Neely, R. D. G., Cullen, C., Ennis, C. N., Trimble, E. R., McAteer, D. S., Mulholland, G., Ekeke, N., Fillmore, D., Ardill, J. E. S., Thompson, W., Cuny, W. J., Shaw, C., Harper, M. A., Murnaghan, G. A., Kennedy, L., O’Hare, J., Geoghegan, M., O’Herlihy, C., Ryan, R., Smyth, P. P. A., Dineen, S. F., Silverberg, J. D., Batts, K. P., Ballard, D. J., Rizza, R. A., Brennan, G. M., McVeigh, G. E., Johnston, G. D., McDermott, B. J., Hayes, J. R., Montwill, J., Fiad, T. M., and Culliton, M.

Published
1992
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32. Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients

Author

Rizza, R, Hackmann, K, Paris, I, Minucci, A, De Leo, R, Schrock, E, Urbani, A, Capoluongo, E, Gelli, G, Concolino, P, Urbani, A (ORCID:0000-0001-9168-3174), Capoluongo, E (ORCID:0000-0001-9872-0572), Rizza, R, Hackmann, K, Paris, I, Minucci, A, De Leo, R, Schrock, E, Urbani, A, Capoluongo, E, Gelli, G, Concolino, P, Urbani, A (ORCID:0000-0001-9168-3174), and Capoluongo, E (ORCID:0000-0001-9872-0572)

Abstract

Background In recent years, the number of patients being offered BRCA1/2 testing has changed dramatically. Advances in high-throughput sequencing technology have led many diagnostic laboratories to test next-generation sequencing (NGS)-based platforms as the main technology for clinical testing. As a consequence, the proportion of novel BRCA1/2 variants detected has greatly increased. Here, we describe two novel BRCA1 large deletions detected in Italian patients affected by hereditary breast and ovarian cancer syndrome (HBOC). Methods We applied an NGS pipeline with a reliable copy number variation (CNV) prediction algorithm. Successively, samples were investigated using the Multiplex Amplicon Quantification (MAQ) assay and array comparative genomic hybridization (CGH). In a single case, long-range polymerase chain reaction (PCR) was employed for careful detection of the breakpoint region, while the RepeatMasker program was used to identify Alu sequences at the junction point. Results A 137.8 kb deletion, involving the first six exons of BRCA1 and the full NBR2, BRCA1P1, NBR1, and TMEM106a genes, was detected in an Italian woman diagnosed with high-grade serous ovarian carcinoma. A second rearrangement, involving the deletion of BRCA1 11-14 exons, was detected in a breast cancer patient and was fully characterized and reported according to recommended Human Genome Variation Society (HGVS) nomenclature: NG_005905.2: g.125038_143266del; NM_007294.3: c.2817_4716del; NP_009225: p.Lys862Metfs? Conclusion Although it was not possible to perform a familial segregation analysis and more direct evidence of the relationship between genotype and phenotype is necessary, both of the novel reported rearrangements cause the loss of crucial functional domains of the BRCA1 protein and this event supports their pathogenicity.

Published
2019

35. Sociologia del lavoro: una storia lunga quarant’anni. Un’introduzione

Author

Barabaschi, Barbara, Borghi, Vando, Chicchi, Federico, Giullari, B., Gosetti, G., La Rosa, M., Morlicchio, E., Pirone, F., Rizza, R., and Zanfrini, Laura

Subjects
organizzazione del lavoro, sociology of work, labour market policies, evoluzione editoriale, editorial innovation, work organization, Settore SPS/09 - SOCIOLOGIA DEI PROCESSI ECONOMICI E DEL LAVORO, sociologia del lavoro, politiche del lavoro
Published
2018

36. Simulating the Learning Method of Learners of English as a Second Language

Author

Rizza R Consad and Grenna Marie Joy P Simene

Abstract

Using the Language Change Model of Wilensky, this study predicted the most effective method in teaching English to second language learners (SLL). Using the parameters as set by the model, this study identified three teaching methods in teaching English to SLL: one-on-one interaction using the English language; group interaction using the English language; and the mixed method (the use of both one-on-one and group interactions, and learners encouraged to use the target language and their native tongue in the interactions). The generated data from the model were statistically treated using regression analysis. The results showed that one-on-one interaction using the English language and group interaction using the English language were the methods ESL learners could better learn the target language rather than through the mixed method. The results implied that a person can learn English without the facility of his/her first language, and that there are methods that are effective in the teaching of English. With the smorgasbord of strategies and methods in English language learning, there are methods that may cater to different kinds of learning. With the proper execution of the method, i.e., group interaction using English, learners can acquire a second language even without the facility of their first language.

Published
2017
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37. Distribution patterns of the parrotfish Sparisoma cretense in the Plemmirio’s MPA

Author

Gianguzza P, Pasolli L, Mazzoldi C, Di Trapani F, Klanten OS, Mazza G, Rizza R., Gianguzza, P., Pasolli, L., Mazzoldi, C., Di Trapani, F., Klanten, O., Mazza, G., and Rizza, R.

Subjects
Settore BIO/07 - Ecologia, Mediterranean MPAs, target species, Parrotfish, Sparisoma cretense
Abstract

Marine protected areas (MPAs), when designated correctly and managed well, provide a plethora of conservation benefits for current and future generations (i.e. increased habitat heterogeneity at the seascape level, increased abundance of threatened species and habitats, and maintenance of a full range of genotypes). The distribution pattern of an important target species from the Mediterranean Sea, the parrotfish Sparisoma cretense, was determined in the Plemmirio MPA (Siracuse, Italy) during summer of 2014. Sampling was carried out by means of underwater visual census techniques at two different depth (0/10 m and 10/20 m respectively) at four sampling sites within the reserve boundaries and two sites outside the reserve. Densities and biomasses of S. cretense were significantly higher inside than outside the MPA, however no differences in depth were detected. Our findings confirm that the enforcement of the Plemmirio MPA has a strong positive effect in retaining high numbers of commercially important species, such as S. cretense.

Published
2016

38. Oxidative Stress and Cardiovascular Risk in Type 1 Diabetes Mellitus: Insights From the DCCT/EDIC Study

Author

Tang, W.H. Wilson, primary, McGee, Paula, additional, Lachin, John M., additional, Li, Daniel Y., additional, Hoogwerf, Byron, additional, Hazen, Stanley L., additional, Nathan, D.M., additional, Zinman, B., additional, Crofford, O., additional, Genuth, S., additional, Brown‐Friday, J., additional, Crandall, J., additional, Engel, H., additional, Engel, S., additional, Martinez, H., additional, Phillips, M., additional, Reid, M., additional, Shamoon, H., additional, Sheindlin, J., additional, Gubitosi‐Klug, R., additional, Mayer, L., additional, Pendegast, S., additional, Zegarra, H., additional, Miller, D., additional, Singerman, L., additional, Smith‐Brewer, S., additional, Novak, M., additional, Quin, J., additional, Genuth, Saul, additional, Palmert, M., additional, Brown, E., additional, McConnell, J., additional, Pugsley, P., additional, Crawford, P., additional, Dahms, W., additional, Gregory, N.S., additional, Lackaye, M.E., additional, Kiss, S., additional, Chan, R., additional, Orlin, A., additional, Rubin, M., additional, Brillon, D., additional, Reppucci, V., additional, Lee, T., additional, Heinemann, M., additional, Chang, S., additional, Levy, B., additional, Jovanovic, L., additional, Richardson, M., additional, Bosco, B., additional, Dwoskin, A., additional, Hanna, R., additional, Barron, S., additional, Campbell, R., additional, Bhan, A., additional, Kruger, D., additional, Jones, J.K., additional, Edwards, P.A., additional, Carey, J.D., additional, Angus, E., additional, Thomas, A., additional, Galprin, A., additional, McLellan, M., additional, Whitehouse, F., additional, Bergenstal, R., additional, Johnson, M., additional, Gunyou, K., additional, Thomas, L., additional, Laechelt, J., additional, Hollander, P., additional, Spencer, M., additional, Kendall, D., additional, Cuddihy, R., additional, Callahan, P., additional, List, S., additional, Gott, J., additional, Rude, N., additional, Olson, B., additional, Franz, M., additional, Castle, G., additional, Birk, R., additional, Nelson, J., additional, Freking, D., additional, Gill, L., additional, Mestrezat, W., additional, Etzwiler, D., additional, Morgan, K., additional, Aiello, L.P., additional, Golden, E., additional, Arrigg, P., additional, Asuquo, V., additional, Beaser, R., additional, Bestourous, L., additional, Cavallerano, J., additional, Cavicchi, R., additional, Ganda, O., additional, Hamdy, O., additional, Kirby, R., additional, Murtha, T., additional, Schlossman, D, additional, Shah, S., additional, Sharuk, G., additional, Silva, P., additional, Silver, P., additional, Stockman, M., additional, Sun, J., additional, Weimann, E., additional, Wolpert, H., additional, Aiello, L.M., additional, Jacobson, A., additional, Rand, L., additional, Rosenzwieg, J., additional, Larkin, M.E., additional, Christofi, M., additional, Folino, K., additional, Godine, J., additional, Lou, P., additional, Stevens, C., additional, Anderson, E., additional, Bode, H., additional, Brink, S., additional, Cornish, C., additional, Cros, D., additional, Delahanty, L., additional, eManbey, ., additional, Haggan, C., additional, Lynch, J., additional, McKitrick, C., additional, Norman, D., additional, Moore, D., additional, Ong, M., additional, Taylor, C., additional, Zimbler, D., additional, Crowell, S., additional, Fritz, S., additional, Hansen, K., additional, Gauthier‐Kelly, C., additional, Service, F.J., additional, Ziegler, G., additional, Barkmeier, A., additional, Schmidt, L., additional, French, B., additional, Woodwick, R., additional, Rizza, R., additional, Schwenk, W.F., additional, Haymond, M., additional, Pach, J., additional, Mortenson, J., additional, Zimmerman, B., additional, Lucas, A., additional, Colligan, R., additional, Luttrell, L., additional, Lopes‐Virella, M., additional, Caulder, S., additional, Pittman, C., additional, Patel, N., additional, Lee, K., additional, Nutaitis, M., additional, Fernandes, J., additional, Hermayer, K., additional, Kwon, S., additional, Blevins, A, additional, Parker, J., additional, Colwell, J., additional, Lee, D., additional, Soule, J., additional, Lindsey, P., additional, Bracey, M., additional, Farr, A., additional, Elsing, S., additional, Thompson, T., additional, Selby, J., additional, Lyons, T., additional, Yacoub‐Wasef, S., additional, Szpiech, M., additional, Wood, D., additional, Mayfield, R., additional, Molitch, M., additional, Adelman, D., additional, Colson, S., additional, Jampol, L., additional, Lyon, A., additional, Gill, M., additional, Strugula, Z., additional, Kaminski, L., additional, Mirza, R., additional, Simjanoski, E., additional, Ryan, D., additional, Johnson, C., additional, Wallia, A., additional, Ajroud‐Driss, S., additional, Astelford, P., additional, Leloudes, N., additional, Degillio, A., additional, Schaefer, B., additional, Mudaliar, S., additional, Lorenzi, G, additional, Goldbaum, M., additional, Jones, K., additional, Prince, M., additional, Swenson, M., additional, Grant, I., additional, Reed, R., additional, Lyon, R., additional, Kolterman, O., additional, Giotta, M., additional, Clark, T., additional, Friedenberg, G., additional, Sivitz, W.I., additional, Vittetoe, B., additional, Kramer, J., additional, Bayless, M., additional, Zeitler, R., additional, Schrott, H., additional, Olson, N., additional, Snetselaar, L., additional, Hoffman, R., additional, MacIndoe, J., additional, Weingeist, T., additional, Fountain, C., additional, Miller, R., additional, Johnsonbaugh, S., additional, Patronas, M., additional, Carney, M., additional, Mendley, S., additional, Salemi, P., additional, Liss, R., additional, Hebdon, M., additional, Counts, D., additional, Donner, T., additional, Gordon, J., additional, Hemady, R., additional, Kowarski, A., additional, Ostrowski, D., additional, Steidl, S., additional, Jones, B., additional, Herman, W.H., additional, Martin, C.L., additional, Pop‐Busui, R., additional, Greene, D.A., additional, Stevens, M.J., additional, Burkhart, N., additional, Sandford, T., additional, Floyd, J., additional, Bantle, J., additional, Flaherty, N., additional, Terry, J., additional, Koozekanani, D., additional, Montezuma, S., additional, Wimmergren, N., additional, Rogness, B., additional, Mech, M., additional, Strand, T., additional, Olson, J., additional, McKenzie, L., additional, Kwong, C., additional, Goetz, F., additional, Warhol, R., additional, Hainsworth, D., additional, Goldstein, D., additional, Hitt, S., additional, Giangiacomo, J., additional, Schade, D.S, additional, Canady, J.L., additional, Burge, M.R., additional, Das, A., additional, Avery, R.B., additional, Ketai, L.H., additional, Chapin, J.E., additional, Schluter, M.L., additional, Rich, J., additional, Johannes, C., additional, Hornbeck, D., additional, Schutta, M., additional, Bourne, P.A., additional, Brucker, A., additional, Braunstein, S., additional, Schwartz, S., additional, Maschak‐Carey, B.J., additional, Baker, L., additional, Orchard, T., additional, Cimino, L., additional, Songer, T., additional, Doft, B., additional, Olson, S., additional, Becker, D., additional, Rubinstein, D., additional, Bergren, R.L., additional, Fruit, J., additional, Hyre, R., additional, Palmer, C., additional, Silvers, N., additional, Lobes, L., additional, Rath, P. Paczan, additional, Conrad, P.W., additional, Yalamanchi, S., additional, Wesche, J., additional, Bratkowksi, M., additional, Arslanian, S., additional, Rinkoff, J., additional, Warnicki, J., additional, Curtin, D., additional, Steinberg, D., additional, Vagstad, G., additional, Harris, R., additional, Steranchak, L., additional, Arch, J., additional, Kelly, K., additional, Ostrosaka, P., additional, Guiliani, M., additional, Good, M., additional, Williams, T., additional, Olsen, K., additional, Campbell, A., additional, Shipe, C., additional, Conwit, R., additional, Finegold, D., additional, Zaucha, M., additional, Drash, A., additional, Morrison, A., additional, Malone, J.I., additional, Bernal, M.L., additional, Pavan, P.R., additional, Grove, N., additional, Tanaka, E.A., additional, McMillan, D., additional, Vaccaro‐Kish, J., additional, Babbione, L., additional, Solc, H., additional, DeClue, T.J., additional, Dagogo‐Jack, S., additional, Wigley, C., additional, Ricks, H., additional, Kitabchi, A., additional, Chaum, E., additional, Murphy, M.B., additional, Moser, S., additional, Meyer, D., additional, Iannacone, A., additional, Yoser, S., additional, Bryer‐Ash, M., additional, Schussler, S., additional, Lambeth, H., additional, Raskin, P., additional, Strowig, S., additional, Basco, M., additional, Cercone, S., additional, Barnie, A., additional, Devenyi, R., additional, Mandelcorn, M., additional, Brent, M., additional, Rogers, S., additional, Gordon, A., additional, Bakshi, N., additional, Perkins, B., additional, Tuason, L., additional, Perdikaris, F., additional, Ehrlich, R., additional, Daneman, D., additional, Perlman, K., additional, Ferguson, S, additional, Palmer, J., additional, Fahlstrom, R., additional, de Boer, I.H., additional, Kinyoun, J., additional, Van Ottingham, L., additional, Catton, S., additional, Ginsberg, J., additional, McDonald, C., additional, Harth, J., additional, Driscoll, M., additional, Sheidow, T., additional, Mahon, J., additional, Canny, C., additional, Nicolle, D., additional, Colby, P., additional, Dupre, J., additional, Hramiak, I., additional, Rodger, N.W., additional, Jenner, M., additional, Smith, T., additional, Brown, W., additional, May, M., additional, Lipps Hagan, J., additional, Agarwal, A., additional, Adkins, T., additional, Lorenz, R., additional, Feman, S., additional, Survant, L., additional, White, N.H., additional, Levandoski, L., additional, Grand, G., additional, Thomas, M., additional, Joseph, D., additional, Blinder, K., additional, Shah, G., additional, Burgess, D., additional, Boniuk, I., additional, Santiago, J., additional, Tamborlane, W., additional, Gatcomb, P., additional, Stoessel, K., additional, Ramos, P., additional, Fong, K., additional, Ossorio, P., additional, Ahern, J., additional, Meadema‐Mayer, L., additional, Beck, C., additional, Farrell, K., additional, Quin, J, additional, Gaston, P., additional, Trail, R., additional, Lachin, J., additional, Backlund, J., additional, Bebu, I., additional, Braffett, B., additional, Diminick, L., additional, Gao, X., additional, Hsu, W., additional, Klumpp, K., additional, Pan, H., additional, Trapani, V., additional, Cleary, P., additional, McGee, P., additional, Sun, W., additional, Villavicencio, S., additional, Anderson, K., additional, Dews, L., additional, Younes, Naji, additional, Rutledge, B., additional, Chan, K., additional, Rosenberg, D., additional, Petty, B., additional, Determan, A., additional, Kenny, D., additional, Williams, C., additional, Cowie, C., additional, Siebert, C., additional, Steffes, M., additional, Arends, V., additional, Bucksa, J., additional, Nowicki, M., additional, Chavers, B., additional, O'Leary, D., additional, Polak, J., additional, Harrington, A., additional, Funk, L., additional, Crow, R, additional, Gloeb, B., additional, Thomas, S., additional, O'Donnell, C., additional, Soliman, E.Z., additional, Zhang, Z.M., additional, Li, Y., additional, Campbell, C., additional, Keasler, L., additional, Hensley, S., additional, Hu, J., additional, Barr, M., additional, Taylor, T., additional, Prineas, R., additional, Feldman, E.L., additional, Albers, J.W., additional, Low, P., additional, Sommer, C., additional, Nickander, K., additional, Speigelberg, T., additional, Pfiefer, M., additional, Schumer, M., additional, Moran, M., additional, Farquhar, J., additional, Ryan, C., additional, Sandstrom, D., additional, Geckle, M., additional, Cupelli, E., additional, Thoma, F., additional, Burzuk, B., additional, Woodfill, T., additional, Danis, R., additional, Blodi, B., additional, Lawrence, D., additional, Wabers, H., additional, Gangaputra, S., additional, Neill, S., additional, Burger, M., additional, Dingledine, J., additional, Gama, V., additional, Sussman, R., additional, Davis, M., additional, Hubbard, L., additional, Budoff, M., additional, Darabian, S., additional, Rezaeian, P., additional, Wong, N., additional, Fox, M., additional, Oudiz, R., additional, Kim, L, additional, Detrano, R., additional, Cruickshanks, K., additional, Dalton, D., additional, Bainbridge, K., additional, Lima, J., additional, Bluemke, D., additional, Turkbey, E., additional, der Geest, ., additional, Liu, C., additional, Malayeri, A., additional, Jain, A., additional, Miao, C., additional, Chahal, H., additional, Jarboe, R., additional, Monnier, V., additional, Sell, D., additional, Strauch, C., additional, Hazen, S., additional, Pratt, A., additional, Tang, W., additional, Brunzell, J., additional, Purnell, J., additional, Natarajan, R., additional, Miao, F., additional, Zhang, L., additional, Chen, Z., additional, Paterson, A., additional, Boright, A., additional, Bull, S., additional, Sun, L., additional, Scherer, S., additional, Lyons, T.J., additional, Jenkins, A., additional, Klein, R., additional, Virella, G., additional, Jaffa, A., additional, Carter, R., additional, Stoner, J., additional, Garvey, W.T., additional, Lackland, D., additional, Brabham, M., additional, McGee, D., additional, Zheng, D., additional, Mayfield, R.K., additional, Maynard, J., additional, Wessells, H., additional, Sarma, A, additional, Dunn, R., additional, Holt, S., additional, Hotaling, J., additional, Kim, C., additional, Clemens, Q., additional, Brown, J., additional, and McVary, K., additional

Published
2018
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39. Mentoring Women Doctoral Students to Become Community Leaders

Author

Stephanie Vucovich-Cholakian, Amy L. Tillery, Elizabeth M. Poulsen, Elaine M. Newborg, Rizza R. Bermio-Gonzalez, Jana L. Price-Sharps, Jennifer L. Roy-Pogutter, and Lisa C. Giuliani

Subjects
ComputingMilieux_GENERAL, Gender Studies, Medical education, ComputingMilieux_THECOMPUTINGPROFESSION, Pedagogy, ComputingMilieux_COMPUTERSANDEDUCATION, Psychology, Female students, General Psychology
Abstract

Mentoring female doctoral students to become leaders in their communities is one of the main objectives of Sierra Education and Research Institute SERI. Doctoral level female students were given the opportunity to assist in the development, implementation, and maintenance of a number of community programs at SERI. Seven former and current doctoral students discuss the effects of their mentoring and leadership training on their development as professionals, and describe a moment of growth. All of these women have continued to grow and develop into leaders in their own right, mentoring the next generation of doctoral candidates.

Published
2014
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40. La valutazione del capitale naturale in sei Aree Marine Protette Italiane

Author

Vassallo, P., Paoli, C., Addis, P., Atzori, F., BURGOS -JUAN, E., Campodonico, P., Cappanera, V., Dapueto, G., Deiana, A., Fanciulli, G., Gazale, V., Lavarello, I., Massa, F., Mazza, G., Navone, A., Panzalis, P., Pasolli, L., Pozzi, M., Rizza, R., Sabatini, A., Scarpellini, P., Valerani, C., Vannini, M., Venturini, S., Zanello, A., and Povero, P.

Subjects
donor-side evaluation, biophysical approach, emergy analysis, monetary assessment, emergy analysis, donor-side evaluation, biophysical approach, monetary assessment
Published
2017

41. Proceedings of the 12th Annual Meeting of the Irish Endocrine Society, Belfast, October 23rd and 24th 1987

Author

Ritchie, C. M., Hadden, D. R., Kennedy, A. L., Sheridan, B., Atkinson, A. B., Murray, D. P., Ferriss, J. B., O’Sullivan, D. J., Sheridan, B., Leslie, H. C. P., Roberts, G., McCance, D. R., McKnight, J. A., Atkinson, A. B., McLaughlin, B., Barrett, P., Devlin, J. G., Fitzpatrick, S. C., McKenna, T. J., Lappin, T. R. J., Elder, G. E., Brown, J. H., Taylor, T., Bridges, J. M., O’Shea, D., Byrne, M., Powell, D., Cunningham, S. K., McKenna, T. J., Moles, K. W., Varghese, A., Buchanan, K. D., Atkinson, A. B., Carson, D., Atkinson, A. B., McCance, D. R., McKnight, J. A., Laverty, S., Sheridan, B., McKane, W. R., Stevens, A. B., Duly, E., Andrews, W. J., Bell, P. M., Hayes, J. R., Henry, R. W., Bell, P. M., Firth, R. G., Rizza, R. A., O’Hare, J. A., Minaker, K. L., Keneilly, G. S., Rowe, J. W., Pallotta, Johanna A., Young, J. B., Firth, R., Bell, P., Hansen, I., Rizza, R., Corcoran, A. E., Smyth, P. P. A., Cranny, A., Cullen, M. J., O’Brien, C. J., Vento, S., Cundy, T., Eddleston, A. L. W. F., Folan, J., Gosling, J. P., Fottrell, P. F., Finn, M. M., Stevens, A. B., McKane, W. R., Bell, P. M., King, D. J., Hayes, J. R., Murray, D. P., Keenan, P., Gayer, E., Salmon, P., Tomkin, G. H., Drury, M. I., and O’Sullivan, D. J.

Published
1988
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44. Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome

Author

Concolino, P, Rizza, Roberta, Hackmann, K, Paris, Ida, Minucci, Angelo, De Paolis, Elisa, Scambia, Giovanni, Zuppi, Cecilia, Schrock, E, Capoluongo, Ettore Domenico, Rizza, R, Paris, I, Minucci, A, De Paolis, E, Scambia, G (ORCID:0000-0003-2758-1063), Zuppi, C (ORCID:0000-0003-4710-4934), Capoluongo, E. (ORCID:0000-0001-9872-0572), Concolino, P, Rizza, Roberta, Hackmann, K, Paris, Ida, Minucci, Angelo, De Paolis, Elisa, Scambia, Giovanni, Zuppi, Cecilia, Schrock, E, Capoluongo, Ettore Domenico, Rizza, R, Paris, I, Minucci, A, De Paolis, E, Scambia, G (ORCID:0000-0003-2758-1063), Zuppi, C (ORCID:0000-0003-4710-4934), and Capoluongo, E. (ORCID:0000-0001-9872-0572)

Abstract

We report a novel BRCA1 LGR, involving the complete duplication of exon 3, in an Italian patient with a strong family history of breast and ovarian cancer. Our purpose is to provide an effective characterization of this LGR using a combination of different methods able to establish the exact breakpoints of the duplication. MAQ assay was used as primary screening method in LGRs detection. Array CGH, RT-PCR, and Long-PCR were used for a careful characterization of rearrangement and breakpoint regions. The Repeat Masker program was employed to identify Alu sequences at breakpoint junctions. RNA analysis showed that this in tandem duplication of exon 3 causes an in frame insertion of 18 amino acids within the protein. Array CGH and Long-PCR strategies revealed that the duplication (g.100411_102863dup) involves exactly 2.452 nucleotides between intron 2 and intron 3 of the gene. In addition, while an Alu Sx sequence was identified at upstream breakpoint, no Alu repeats were found at downstream junction. This supports the hypothesis that the new duplication was the result of a non-homologous recombination event between Alu and Non-Alu sequences. Our strategy, which combines a comprehensive set of methodologies, has been able to characterize the new BRCA1 duplication confirming, as previously reported, that MAQ assay represents a reliable and effective method for a primary screening of BRCA rearrangements. We underline the relevance of incorporating quantitative methods for BRCA genes dosage testing into routine diagnostic practice.

Published
2017

45. CYP21A2 intronic variants causing 21-hydroxylase deficiency

Author

Concolino, P, Rizza, Roberta, Costella, Alessandra, Carrozza, Cinzia, Zuppi, Cecilia, Capoluongo, Ettore Domenico, Rizza, R, Costella, A, Carrozza, C (ORCID:0000-0003-1045-0470), Zuppi, C (ORCID:0000-0003-4710-4934), Capoluongo, E. (ORCID:0000-0001-9872-0572), Concolino, P, Rizza, Roberta, Costella, Alessandra, Carrozza, Cinzia, Zuppi, Cecilia, Capoluongo, Ettore Domenico, Rizza, R, Costella, A, Carrozza, C (ORCID:0000-0003-1045-0470), Zuppi, C (ORCID:0000-0003-4710-4934), and Capoluongo, E. (ORCID:0000-0001-9872-0572)

Abstract

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase gene (CYP21A2). Most of CYP21A2 mutations result from intergenic recombinations between CYP21A2 and closely linked CYP21A1P pseudogene. Rare mutations not generated by gene conversion account for 5-10% of 21-hydroxylase deficiency alleles. Intronic variants represent only a little part of these but their effect on the protein is generally deleterious. The aim of this paper is to provide a comprehensive literary review regarding all intronic CYP21A2 pathological variants reported to date. In addition, we describe three novel causing disease variants in our patients affected by the classic form of CAH: IVS4-1G > A, IVS5-8 T > A, IVS8-2A > G. In silico analysis revealed that all these substitutions affect the splicing process leading to a nonfunctional protein. Based on these results, we are able to classify them as pathological variants according to the patient's phenotype.

Published
2017

46. Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) for large genomic rearrangements (LGRs) detection: A new approach to assess quantitative status of BRCA1 gene in a reference laboratory

Author

Minucci, Angelo, De Paolis, Elisa, Concolino, Paola, De Bonis, Maria, Rizza, Roberta, Canu, Giulia, Scaglione, Giovanni Luca, Mignone, F, Scambia, Giovanni, Zuppi, Cecilia, Capoluongo, Ettore Domenico, Minucci, A, De Paolis, E, Concolino, P, De Bonis, M, Rizza, R, Canu, G, Scaglione, GL, Scambia, G (ORCID:0000-0003-2758-1063), Zuppi, C (ORCID:0000-0003-4710-4934), Capoluongo, E. (ORCID:0000-0001-9872-0572), Minucci, Angelo, De Paolis, Elisa, Concolino, Paola, De Bonis, Maria, Rizza, Roberta, Canu, Giulia, Scaglione, Giovanni Luca, Mignone, F, Scambia, Giovanni, Zuppi, Cecilia, Capoluongo, Ettore Domenico, Minucci, A, De Paolis, E, Concolino, P, De Bonis, M, Rizza, R, Canu, G, Scaglione, GL, Scambia, G (ORCID:0000-0003-2758-1063), Zuppi, C (ORCID:0000-0003-4710-4934), and Capoluongo, E. (ORCID:0000-0001-9872-0572)

Abstract

Aim of the study: Evaluation of copy number variation (CNV) in BRCA1/2 genes, due to large genomic rearrangements (LGRs), is a mandatory analysis in hereditary breast and ovarian cancers families, if no pathogenic variants are found by sequencing. LGRs cannot be detected by conventional methods and several alternative methods have been developed. Since these approaches are expensive and time consuming, identification of alternative screening methods for LGRs detection is needed in order to reduce and optimize the diagnostic procedure. The aim of this study was to investigate a Competitive PCR-High Resolution Melting Analysis (C-PCR-HRMA) as molecular tool to detect recurrent BRCA1 LGRs. Material and methods: C-PCR-HRMA was performed on exons 3, 14, 18, 19, 20 and 21 of the BRCAI gene; exons 4, 6 and 7 of the ALB gene were used as reference fragments. Results: This study showed that it is possible to identify recurrent BRCA1 LGRs, by melting peak height ratio between target (BRCA1) and reference (ALB) fragments. Furthermore, we underline that a peculiar amplicon-melting profile is associated to a specific BRCAI LGR. All C-PCR-HRMA results were confirmed by Multiplex ligation-dependent probe amplification. Conclusions: C-PCR-HRMA has proved to be an innovative, efficient and fast method for BRCA1 LGRs detection. Given the sensitivity, specificity and ease of use, c-PCR-HRMA can be considered an attractive and powerful alternative to other methods for BRCA1 CNVs screening, improving molecular strategies for BRCA testing in the context of Massive Parallel Sequencing.

Published
2017

47. Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome

Author

Concolino, P, Rizza, R, Hackmann, K, Minucci, A, Scaglione, Gl, De Bonis, M, Costella, A, Zuppi, C, Schrock, E, Capoluongo, E., Scaglione, GL, Zuppi, C (ORCID:0000-0003-4710-4934), Capoluongo, E. (ORCID:0000-0001-9872-0572), Concolino, P, Rizza, R, Hackmann, K, Minucci, A, Scaglione, Gl, De Bonis, M, Costella, A, Zuppi, C, Schrock, E, Capoluongo, E., Scaglione, GL, Zuppi, C (ORCID:0000-0003-4710-4934), and Capoluongo, E. (ORCID:0000-0001-9872-0572)

Abstract

Background: Epithelial ovarian cancer (EOC) is a spectrum of different diseases, which makes their treatment a challenge. Forkhead box M1 (FOXM1) is an oncogene aberrantly expressed in many solid cancers including serous EOC, but its role in non-serous EOCs remains undefined. We examined FOXM1 expression and its correlation to prognosis across the three major EOC subtypes, and its role in tumorigenesis and chemo-resistance in vitro. Methods: Gene signatures were generated by microarray for 14 clear-cell and 26 endometrioid EOCs, and 15 normal endometrium snap-frozen biopsies. Validation of FOXM1 expression was performed by RT-qPCR and immunohistochemistry in the same samples and additionally in 50 high-grade serous EOCs and in their most adequate normal controls (10 luminal fallopian tube and 20 ovarian surface epithelial brushings). Correlations of FOXM1 expression to clinic-pathological parameters and patients' prognosis were evaluated by Kaplan-Meier and Cox proportional-hazards analyses. OVCAR-3 and two novel deeply characterized EOC cell lines (EOC-CC1 and OSPC2, with clear-cell and serous subtype, respectively) were employed for in vitro studies. Effects of FOXM1 inhibition by transient siRNA transfection were evaluated on cell-proliferation, cell-cycle, colony formation, invasion, and response to conventional first-and second-line anticancer agents, and to the PARP-inhibitor olaparib. Gene signatures of FOXM1-silenced cell lines were generated by microarray and confirmed by RT-qPCR. Results: A significant FOXM1 mRNA up-regulation was found in EOCs compared to normal controls. FOXM1 protein overexpression significantly correlated to serous histology (p = 0.001) and advanced FIGO stage (p = 0.004). Multivariate analyses confirmed FOXM1 protein overexpression as an independent indicator of worse disease specific survival in non-serous EOCs, and of shorter time to progression in platinum-resistant cases. FOXM1 downregulation in EOC cell lines inhibited cell growt

Published
2017

49. La disoccupazione giovanile in tempo di crisi: nuovi squilibri e vecchie segmentazioni

Author

De Luigi, N., Rizza, R., Santangelo, Nicoletta, G. CORDELLA, S.E. MASI, N. De Luigi, Rizza R., and Santangelo N.

Subjects
forze di lavoro potenziali, differenze territoriali, MERCATO DEL LAVORO, GIOVANI, CRISI ECONOMICA, DISOCCUPAZIONE, differenze di genere, giovani, disoccupazione, inattività, INDICATORI STATISTICI
Abstract

L'articolo evidenzia come la discriminazione della forza lavoro giovanile costituisca una caratteristica strutturale del mercato occupazionale italiano. Vari e diversificati sono gli elementi di svantaggio illustrati: innanzitutto la presenza di forti barriere all’ingresso che determinano un più elevato livello della disoccupazione giovanile rispetto a quella degli adulti; in secondo luogo la durevole presenza tra le giovani generazioni di consistenti aree di inattività; in terza istanza la persistente disparità tra giovani uomini e giovani donne sul versante delle opportunità occupazionali; in quarto luogo il resistente divario territoriale documentato non solo dal più elevato livello della disoccupazione nel Mezzogiorno, ma anche dalla più alta quota di inattivi fra i giovani meridionali; infine, la forte concentrazione fra i giovani delle forme di lavoro atipiche introdotte a partire dalla metà degli anni Novanta del Novecento con un aumento del rischio di attraversare ripetuti e prolungati periodi di inoccupazione/disoccupazione/inattività. Dopo avere illustrato i contorni specifici dello svantaggio giovanile in relazione a questi aspetti, l’articolo propone un’analisi di alcuni indicatori complementari al tasso di disoccupazione, che riferendosi al bacino delle cosiddette “forze di lavoro potenziali”, permettono di fornire un quadro più preciso delle zone grigie tra le categorie di occupazione, attività e disoccupazione e dei relativi meccanismi sociali che mostrano la sostanziale debolezza di spiegazioni fondate sui criteri convenzionali.

Published
2012

50. Stato e conservazione di Paracentrotus lividus nell’ AMP Plemmirio

Author

GIANGUZZA, Paola, BONAVIRI, Chiara, Agnetta, D., Trapani, F., Galasso, N., Incontro, V., Rizza, R., Mazza, G., Riggio, S., Gianguzza, P., Bonaviri, C., Agnetta, D., Trapani, F., Galasso, N., Incontro, V., Rizza, R., Mazza, G., and Riggio, S.

Subjects
Specie target, AMP Plemmirio, Paracentrotus lividus
Published
2011

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