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802 results on '"MINIERO, R."'

1. The longitudinal biomonitoring of residents living near the waste incinerator of Turin: Polycyclic Aromatic Hydrocarbon metabolites after three years from the plant start-up

Author

Iamiceli, A.L., Abate, V., Bena, A., De Filippis, S.P., De Luca, S., Iacovella, N., Farina, E., Gandini, M., Orengia, M., De Felip, E., Abballe, A., Dellatte, E., Ferri, F., Fulgenzi, A.R., Ingelido, A.M., Ivaldi, C., Marra, V., Miniero, R., Crosetto, L., Procopio, E., and Salamina, G.

Published
2022
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3. Iron Deficiency Anemia Refractory to Conventional Therapy but Responsive to Feralgine® in a Young Woman with Celiac Disease

Author

Talarico V, Giancotti L, Miniero R, and Bertini M

Subjects
celiac disease, iron deficiency anemia, ferrous bisglycinate chelate, sodium alginate, oiat, Medicine (General), R5-920
Abstract

Valentina Talarico,1 Laura Giancotti,2 Roberto Miniero,1 Marco Bertini3 1Department of Pediatric, Pugliese-Ciaccio Hospital, Catanzaro, Italy; 2Unit of Pediatrics, University “Magna Graecia”, Catanzaro, Italy; 3R&D Department, Laboratori Baldacci SpA, Pisa, ItalyCorrespondence: Valentina TalaricoDepartment of Pediatrics, Pugliese-Ciaccio Hospital, Viale Pio X, Catanzaro, 88100, ItalyTel +3402457848Email talaricovalentina@gmail.comAbstract: Iron, which is an important micronutrient in the human body may be deficient in people with celiac disease (CD). Iron deficiency anemia (IDA) may be the presenting feature of celiac disease, also in the absence of diarrhea or weight loss. The treatment of IDA in patient with CD is primarily a gluten-free-diet (GFD), but it is also very important oral iron supplementation until the iron stores have been restored. However, a frequent problem in CD is the poor tolerability and poor efficacy of oral iron preparations. A new product, consisting of the combination of Ferrous Bysglicinate Chelate and Sodium Alginate (Feralgine™), has been demonstrated to be more bioavailable and well tolerated in CD. We present a case report that showed a clear efficacy of this product in a form of IDA refractory to conventional therapy in a woman with CD and we demonstrated a clear increase of serum iron after administration of this new type of ferrous.Keywords: celiac disease, iron deficiency anemia, ferrous bisglycinate chelate, sodium alginate, OIAT

Published
2021

21. Autologous bone marrow transplantation for treatment of isolated central nervous system relapse of childhood acute lymphoblastic leukemia

Author

Messina, C, Valsecchi, MG, Aricò, M, Locatelli, F, Rossetti, F, Rondelli, R, Cesaro, S, Uderzo, C, Conter, V, Pession, A, Sotti, G, Loiacono, G, Santoro, N, Miniero, R, Dini, G, Favre, C, Meloni, G, Testi, AM, Werner, B, Silvestri, D, Arrighini, A, Varotto, S, Pillon, M, Basso, G, Lombardi, A, Masera, G, and Zanesco, L

Published
1998
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26. Abstracts from the sixth meeting of the international association of pancreatology, November 2–4, 1994, Chicago, IL

Author

Burdick, Michael, Hollingsworth, Tony, Gansauge, S., Gansauge, F., Link, K. H., Schoenberg, M. H., Poch, B., Beger, H. G., Wagner, A. C. C., Steffen, H., Göke, B., Gaisano, H. Y., Sheu, L., Foskett, J. K., Trimble, W. S., Lee, Y. L., Kwon, H. Y., Park, H. S., Lee, S. M., Park, H. J., aguchi, S., Green, G. M., Mitamura, K., Komatsu, Y., Arai, I., Yamaura, H., Wang, OJ, Adrian, TE, Teyssen, S., Niebel, W., Niebergall, E., Singer, M. V., Umehara, K, Ohara, T, Kataoka, K, Okamura, H, Kato, M, Sakagami, J, Ohta, A, Murase, M, Hosoda, M, Yamane, Y, Kashima, K, Ibata, Y, Balthazar, Emil J., Banks, P. A., Garzof, S. G., Langevin, R. E., Silverman, S. G., Sica, G. T., Bassi, C., Benini, A., Muner, A., Falconi, M., Abbas, H., Pederzoli, P., Salvia, R., Minelli, E. Bertazzoni, Shaskar, S. Shanmuga, Shearer, M. G., Imrie, C. W., Brodmerkel, G. J., Reed, P. A., Carr-Locke, DL, Musa, A, Lichtenstein, DR, Dam, J Van, Banks, PA, Eisele, S., Schoenberg, M. H., Böchjer, M., Beger, H. G., Foitzik, Th., Fern’andez-del Castillo, C., Rattner, D. W., Ferraro, M. J., Warshaw, A. L., Foitzik, Th., Schmidt, J., Hotz, H., Warshaw, A. L., Buhr, H. J., Klar, E., Heinisch, A., Kadow, R., Bioss, U., Schölmerich, J., Zimgibl, H., Leser, H. -G., Manes, G., Rabitti, P. G., Laccetti, M., Cavallera, A., Paceili, L., Gagiione, G., Uomo, G., Marinqhini, A., Zinsmeister, A. R., Melton, L. J., DiMagno, E. P., Marotta, F., Chui, D. H., Barbi, G., Zhong, G. G., Marotta, F., Chui, D. H., Tajiri, H., Bellini, O., Zhong, G. G., Barbi, G., McKay, C, Baxter, J. N., Imrie, C. W., Mithöfer, K., Fern’andez-delCastillo, C., Frick, T. W., Lewandrowski, K., Rattner, D. W., Warshaw, A. L., Pezzilli, R., Billi, P., Miniero, R., Gullo, L., Barakat, B., Migliuli, M., Rau, B., Schad, M., Schoenberg, M., Beger, H. G., Richter, F., Matthias, R., Sakagami, J, Kataoka, K, Ohta, A, Umehara, K, Imoto, M, Murase, M, Hosoda, M, Yamane, Y, Kato, M, Kashima, K, Ashihara, T, Schofield, D, Sharer, NM, Heywood, KM, Waters, HM, Braganza, JM, Scott, P, Sharer, NM, Bilton, D, Deardon, D, Lee, S, Taylor, PM, McCloy, RF, Braganza, JM, Shen, J., Shao, H., Wu, Z. P., Jin, J. J., Shiel, N, Cassidy, O, Sharma, H, Braganza, J. M., Soöckmann, F., Ahrens, J., Leonhardt, U., Otto, J., Ritzel, U., Ramadori, G., Tian, Fuzhou, Hu, JZ, Huang, DR, Wang, XH, Lian, HW, Zhang, BY, Miao, JG, Li, Xu, Zhou, HT, Uomo, G., Rabitti, P. G., Laccetti, M., Manes, G., Esposico, P., Perrocti, F., Visconci, M., Vaccaro, M. I., Dagrosa, M. A., Mora, M. I., Sordelli, D. O., Vogt, W., MeOmann, H., Heinisch, A., Linseis, A., Holstege, A., Schölmerich, J., Leser, H. -G., Weiser, M. R., Gibbs, S. A. L., Hechcman, H. B., Moore, F. D., Worthington, H. V., Runt, L. P., HcCloy, R. F., KacLennan, I. A., Braqanza, J. M., Heath, D, Alexander, D, Wilson, C, Larvin, M, Imrie, CW, McMahon, MJ, Larvin, M, Ward, J, Robinson, PJ, Chalmers, AG, McMahon, MJ, Apte, M, Wilson, J, McCaughan, G, Korsten, M, Norton, I, Piroia, R, Bimmler, D., Frick, T. W., Scheele, G. A., Bockman, Dale E., Büchler, Markus, Beger, Hans G., Cavallini, G., Brunori, M. P., Rigo, L., Bovo, P., Filippini, M., Vaona, B., Di Francesco, V., Frulloni, L., Marcori, M., Farri, P. C., Laardini, M. T., Pederzoli, P., Chowdhury, Riaz, Ochi, Koji, Mizushima, Takaaki, Tsurumi, Tetsuya, Harada, Hideo, Laver, P., Hoist, J. J., Ohe, M. v. d., Goebell, H., Mi Zumoto, A., Sarr, M. G., DiMagno, E. P., Moore, R., Frey, C. F., Debas, H. T., Mulvihill, S. J., Onizuka, S., Kuroda, H., Kuroda, Y., Hongo, H., Matsuzaki, S., Ito, M., Sekine, L., Tsunoda, T., Pap, ’A., Hrisztov, V., Pap, ’A., Marosi, E., Simon, K., Tak’acs, T., Pederzoli, P., Falconi, M., Bassi, C., Bonora, A., Talamini, G., Saivia, R., Benini, L., Caldiron, E., Vesentini, S., Cavallini, G., Raijman, Isaac, Kortan, Paul, Haber, Gregory B., Ramesh, H, Varghese, CJ, Schofield, D, Kay, PM, Bottiglieri, T, Uden, S, Bilton, D, Braganza, JM, Gut, A, Segal, I, Snehalatha, C, Mohan, V, Braganza, JM, Silva, E., Ceneviva, R., Velludo, M. A. L., Silvan, E., Ruebner, B., Ceneviva, R., Velludo, M. A. L., Roselino, J. E. S., Foss, M. C., Talaraini, G., Falcaoi, M., Frmlltai, L, K Fraacesca, V., Maxwi, M., Vaosa, B., Baro, P., Baxu, C., Pedercoli, P., Cavalliai, G., Taiamini, G., Iacano, C., Faicsai, M., Frulloni, L., Rige, L., Castagnisi, A., Marcori, M., Angelini, G., Bassi, C., Bom, P., Vaoss, B., Vantini, I., Sen, G., Pederzali, P., Cavallini, G., Štimee, B, Bulajič, M, Milosavljevi’c, T, Krsti’c, R, Markovi’c, M, Korneti, V, Ugljcš’c, M, Abruzzesse, IL, Evans, DB, Larry, L, King, T, Raijman, I, Roubein, L, Frazier, M, lacono, C., Faca, E., Falezza, G., Bonora, E., Aurola PP, Serio, G., lacono, C., Nicoli, N., Mansueto, G. C., Zicari, M., Marchiori, L., Mangiante, G., Seno, G., Imarnura, M., Yamauchi, H., Inoue, M., Onda, M., UchlDa, E., Almqtq, T., Yamanaka, Y., Kqbayashi, T., Yokqyama, T., Aida, K., Sasajima, K., Tajiri, T., Egami, K., Yamashita, K., Naitq, Z., Asano, G., Lewandrowski, K. B., Kirby, R. E., Southern, J. F., Compton, C. C., Warshaw, A. L., Lip, J, Strömmer, L, Permert, J, Larsson, J, Adrian, TE, Loftus, E. V., Adkins, M. C., Olivares-Pakzad, B., Batts, K. P., Stephens, D. H., Farnell, M. B., Sarr, H. G., Thompson, G. B., van Heerden, J. A., Kelly, D. G., Miller, L. J., Pearson, R. K., Clain, J. E., Petersen, B. T., DiMagno, E. P., Matsumoto, Cancer S., Chowdhury, R., Mizushima, T., Ochi, K., Harada, H., Miki, H., Ozkan, Hnsan, Saisho, Hiromitsu, Yarnaguchi, Taketo, Ishihara, Takeshi, Kikuchi, Yasuharu, Tsuyuguchi, Toshio, Ohto, Masao, Pasqual, C., Sperti, C., Liesai, G., Guido, M., Pedrazzoli, S., Sperti, C., Pasquali, C., Khajeturian, E., Guolo, P., Pedrazzoli, S., Tadokoro, H., Watanabe, S., Moriyoshi, Y., Yoshida, K., Shiratori, K., Takeuchi, T., Uchida, E., Onda, M., Tajiri, T., Egami, K., Yamashita, K., Aida, K., Yamanaka, Y., Kobayashi, T., Aimoto, T., Yokoyama, T., Inoue, M., Naito, Z., Asano, G., Valentich, M. A., Monis, B., Barotto, N. N., and Herrera, P.

Published
1994
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29. Multiple oral and cerebral relapses of a Granular cell tumor (Abrikossoff Tumor) in a young girl affected by congenital dyserythropoietic anemia type II.

Author

Talarico, V., Giancotti, L., Mazza, G. A., Galea, E., Arcuri, P. P., Raiola, G., Galati, M. C., Tucci, L., and Miniero, R.

Subjects
CELL tumors, CONGENITAL dyserythropoietic anemia, IMMUNOSTAINING, MAGNETIC resonance imaging, PHARYNGEAL diseases
Abstract

Case Report. A 14-year-old girl presented with 1 cm large whitened lesion on the ventral surface of the tongue, appeared from 1 month. Past history showed congenital dyserythropoietic anemia type II. The lesion was excised and microscopic and immunohistochemical analyses were compatible with benign Abrikossoff tumor. Total body MRI was negative. After six months the patient presented a second tongue lesion and four months later another large painful lesion in the soft palate, with the same istological diagnosis. In addition, she had other multiple lesions: two apperead at pharyngeal level (not biopsied) that remain stable over time, and one at the pituitary gland. Conclusion. Granular cell tumors, with or without multiple lesions, are rare in children. About 50% of cases involve the head and neck region, with the tongue being the most affected site. Therapy is based on the surgical excision of the lesions; however some tumor forms, although their histological aspect of benignity, often have an important infiltrative power, making the therapeutic approach difficult, as in our case. [ABSTRACT FROM AUTHOR]

Published
2022
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35. Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors: a study on behalf of the European Group for Blood and Marrow Transplantation

Author

Guardiola, Ph., Pasquini, R., Dokal, I., Ortega, J.J., van Weel-Sipman, M., Marsh, J.C.W., Ball, S.E., Locatelli, F., Vermylen, C., Skinner, R., Ljungman, P., Miniero, R., Shaw, P.J., Souillet, G., Michallet, M., Bekassy, A.N., Krivan, G., Di Bartolomeo, P., Heilmann, C., Zanesco, L., Cahn, J.Y., Arcese, W., Bacigalupo, A., and Gluckman, E.

Published
2000
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36. Extramedullary hematopoiesis in the facial sinus in a patient homozygous for Hemoglobin Lepore: the first case in literature.

Author

TALARICO, V., MURACA, L., ARCURI, P. P., GIGLIOTTI, F., FORTUGNO, C., MINIERO, R., RAIOLA, G., and GALATI, M. C.

Abstract

Extramedullary hematopoiesis (EMH) is a proliferation of hematopoietic tissue outside the bone marrow. The most affected areas are paravertebral ones. We report the case of a patient with homozygous Hb Lepore, not regularly transfused since the age of four years until the age of 29 years, when paravertebral heterotopic masses were first observed. After about 10 years she started reporting clinical signs suggestive of sinusitis. Computed tomography (CT) and Magnetic Resonance Imaging (MRI) showed heterotopic masses in the ethmoid and in the frontal sinuses. Involvement of the sinuses of the large facial area represents a rare localization of EMH. Various cases have been reported in patients with thalassemia intermedia, but no case has been reported with HbLepore. The diagnostic gold standard is MRI, which provides highly accurate and clear images. The treatment is based on hydroxyurea and/or an intensive transfusional regime and sometimes on surgery. [ABSTRACT FROM AUTHOR]

Published
2021

38. Paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis: First report from the italian registry of pediatric thrombosis (R. I. T. I., Registro Italiano Trombosi Infantili)

Author

Suppiej, A, Gentilomo, C, Saracco, P, Sartori, S, Agostini, M, Bagna, R, Bassi, B, Giordano, P, Grassi, M, Guzzetta, A, Lasagni, D, Luciani, M, Molinari, Ac, Palmieri, A, Putti, Mc, Ramenghi, La, Rota, Ll, Sperlì, D, Laverda, Am, Simioni, P(1), Collaborators: Angriman M, Stroke working group of the Italian Registry of Pediatric Thrombosis., Aru, Ab, Barisone, E, Bartalena, L, Berta, M, Bertoni, E, Cancarini, P, Cavaliere, E, Celle, Me, Cerbone, Am, Cesaroni, E, Dalla Via, L, Dell'Oro, Mg, Di Rosa, G, Ferrari, Gm, Fiori, S, Gaffuri, M, Gallina, Mr, Gimmillaro, A, Grandone, E, Ladogana, S, Laforgia, N, La Piana, R, Maschio, F, Miniero, R, Nosadini, M, Panzeri, D, Petrucci, A, Piersigilli, F, Sala, D, Sangermani, R, Santoro, N, Tufano, A, Ventura, G, Vittorini, R., Suppiej, A., Gentilomo, C., Saracco, P., Sartori, S., Agostini, M., Bagna, R., Bassi, B., Giordano, P., Grassi, M., Guzzetta, A., Lasagni, D., Luciani, M., Molinari, A. C., Palmieri, A., Putti, M. C., Ramenghi, L. A., Rota, L. L., Sperli, D., Laverda, A. M., Simioni, P., Angriman, M., Aru, A. B., Barisone, E., Bartalena, L., Berta, M., Bertoni, E., Cancarini, P., Cavaliere, E., Celle, M. E., Cerbone, A. M., Cesaroni, E., Via, L. D., Dell'Oro, M. G., Di Rosa, G., Ferrari, G. M., Fiori, S., Gaffuri, M., Gallina, M. R., Gimmillaro, A., Grandone, E., Ladogana, S., Laforgia, N., La Piana, R., Maschio, F., Miniero, R., Nosadini, M., Panzeri, D., Petrucci, A., Piersigilli, F., Sala, D., Sangermani, R., Santoro, N., Tufano, A., Ventura, G., and Vittorini, R.

Subjects
Male, Pediatrics, AIS, Children, CSVT, Italy, Registry, Thrombosis, Adolescent, Age of Onset, Brain Ischemia, Cerebral Arterial Diseases, Child, Child, Preschool, Delayed Diagnosis, Female, Humans, Infant, Predictive Value of Tests, Recurrence, Registries, Risk Factors, Sinus Thrombosis, Intracranial, Stroke, Time Factors, Treatment Outcome, Hematology, 030204 cardiovascular system & hematology, Sinus Thrombosis, Lethargy, 0302 clinical medicine, Medicine, Predictive value of tests, medicine.symptom, medicine.medical_specialty, NO, 03 medical and health sciences, Preschool, business.industry, medicine.disease, Intracranial, Clinical trial, Hemiparesis, Etiology, Age of onset, business, 030217 neurology & neurosurgery
Abstract

SummaryData from large case series of children with cerebral thrombotic events are pivotal to improve prevention, early recognition and treatment of these conditions. The Italian Registry of Pediatric Thrombosis (R. I. T. I.) was established in 2007 by a multidisciplinary team, aiming for a better understanding of neonatal and paediatric thrombotic events in Italy and providing a preliminary source of data for the future development of specific clinical trials and diagnostic-therapeutic protocols. We analysed data relative to the paediatric cerebral thrombotic events of the R. I. T. I. which occurred between January 2007 and June 2012. In the study period, 79 arterial ischaemic stroke (AIS) events (49 in males) and 91 cerebral sinovenous thrombosis (CSVT) events (65 in males) were enrolled in the R. I. T. I. Mean age at onset was 4.5 years in AIS, and 7.1 years in CSVT. Most common modes of presentation were hemiparesis, seizures and speech disturbances in AIS, and headache, seizures and lethargy in CSVT. Most common etiologies were underlying chronic diseases, vasculopathy and cardiopathy in AIS, and underlying chronic diseases and infection in CSVT. Time to diagnosis exceeded 24 hours in 46 % AIS and 59 % CSVT. Overall data from the Italian Registry are in substantial agreement with those from the literature, despite small differences. Among these, a longer time to diagnosis compared to other registries and case series poses the accent to the need of an earlier recognition of paediatric cerebrovascular events in Italy, in order to enable prompt and effective treatment strategies.

Published
2015

40. Corrigendum to: 'Vaccination in immunocompromised host: Recommendations of Italian Primary Immunodeficiency Network Centers (IPINET)' [Vaccine 36 (2018) Pages 3541–3542]

Author

Martire, Baldassarre, Azzari, Chiara, Badolato, Raffaele, Canessa, Clementina, Cirillo, Emilia, Gallo, Vera, Graziani, Simona, Lorenzini, Tiziana, Milito, Cinzia, Panza, Raffaella, Moschese, Viviana, Pignata, Claudio, Martire, B, Lassandro, G, Panza, R, Vacca, A, Marasco, C, Cardinale, F, Sisto, C, Pession, A, Ricci, G, Rondelli, R, Specchia, F, Plebani, A, Badolato, R, Lougaris, V, Soresina, A, Miniero, R, Anastasio, E, Paganelli, R, Dilizia, Sperli, D, Carpino, L, Cirillo, E, Gallo, V, Giardino, G, Spadaro, G, Pecoraro, A ), Putti, Mc, Agostini, C, Cinetto, F, Trizzino, A, Bertolini, P), Arlotta, A, Marseglia, Gl, Bossi, G, Consolini, R, and Et, Al.

Subjects
ANTIBODY-RESPONSES, Secondary immunodeficiency KeyWords Plus:CHRONIC GRANULOMATOUS-DISEASE, ADVISORY-COMMITTEE, ROTAVIRUS VACCINATION, IMMUNIZATION PRACTICES, Medicine, HUMORAL IMMUNITY, Author Keywords:Vaccination, Primary immunodeficiency, Syndromic immunodeficiency, ACUTE LYMPHOBLASTIC-LEUKEMIA, CALMETTE-GUERIN, POLYSACCHARIDE VACCINATION, MENDELIAN SUSCEPTIBILITY, General Veterinary, General Immunology and Microbiology, business.industry, Public Health, Environmental and Occupational Health, medicine.disease, Virology, Vaccination, Infectious Diseases, Molecular Medicine, business, Host (network)
Published
2018
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42. Clinical features and follow-up in patients with 22q11.2 deletion syndrome

Author

Cancrini, C, Puliafito, P, Digilio, M, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, E, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, A, Pietrogrande, M, Marino, B, Ugazio, A, Plebani, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, M, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, R, Cossu, F, Del Giacco, S, Manconi, P, Consarino, C, Dello Russo, A, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, R, Panisi, C, Fabio, G, Carrabba, M, Roncarolo, M, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, P, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D, Cancrini, C, Puliafito, P, Digilio, Mc, Soresina, A, Martino, S, Rondelli, R, Consolini, R, Ruga, Em, Cardinale, F, Finocchi, A, Romiti, Ml, Martire, B, Bacchetta, R, Albano, V, Carotti, A, Specchia, F, Montin, D, Cirillo, E, Cocchi, G, Trizzino, A, Bossi, G, Milanesi, O, Azzari, C, Corsello, G, Pignata, C, Aiuti, Alessandro, Pietrogrande, Mc, Marino, B, Ugazio, Ag, Plebani, A, Rossi, P., Cancrini, Caterina, Puliafito, Pamela, Digilio, Maria Cristina, Soresina, Annarosa, Martino, Silvana, Rondelli, Roberto, Consolini, Rita, Ruga, Ezia Maria, Cardinale, Fabio, Finocchi, Andrea, Romiti, Maria Luisa, Martire, Baldassarre, Bacchetta, Rosa, Albano, Veronica, Carotti, Adriano, Specchia, Fernando, Montin, Davide, Cirillo, Emilia, Cocchi, Guido, Trizzino, Antonino, Bossi, Grazia, Milanesi, Ornella, Azzari, Chiara, Corsello, Giovanni, Pignata, Claudio, Pietrogrande, Maria Cristina, Marino, Bruno, Ugazio, Alberto Giovanni, Plebani, Alessandro, Rossi, Paolo, Aiuti, A, Rossi, P, Pierani, P, Gabrielli, A, Danieli, Mg, De Mattia, D, Sisto, C, Dammacco, F, Ranieri, G, Pession, A, Ricci, G, Minelli, P, Lougaris, V, Badolato, R, Cattaneo, R, Airò, P, Mura, Rm, Cossu, F, Del Giacco, S, Manconi, Pe, Consarino, C, Dello Russo, Am, Miniero, R, Anastasio, E, Marino, S, Russo, G, Paganelli, R, Sperlì, D, Carpino, L, Aricò, M, Gambineri, E, Lippi, F, Canessa, C, Maggi, E, Romagnani, S, Matucci, A, Vultaggio, A, Gattorno, M, Castagnola, E, Nigro, G, Presta, G, Civino, A, Buzi, F, Gambaretto, G, Fasoli, S, Salpietro, C, Gallizzi, R, Dellepiane, Rm, Panisi, C, Fabio, G, Carrabba, M, Pietrogrande, M, Roncarolo, Mg, Biondi, A, Vallinoto, C, Poggi, V, Menna, G, Di Nardo, R, Sottile, R, Marone, G, Spadaro, G, Carli, M, Basso, G, Putti, C, Semenzato, G, Agostini, C, D'Angelo, P, Izzi, G, Bertolini, P, Zecca, M, Marseglia, G, Maccario, R, Felici, L, Favre, C, Vecchi, V, Sacchini, P, Rinaldi, G, Livadiotti, S, Simonetti, A, Stabile, A, Duse, M, Iacobini, M, Quinti, I, Fiorilli, M, Moschese, V, Cecere, F, D'Ambrosio, A, De Zan, G, Strafella, S, Tamaro, Paolo, Rabusin, M, Tommasini, A, Tovo, P, De Carli, M, De Carli, S, Nespoli, L, Marinoni, M, Porcellini, A, Lunardi, C, Patuzzo, G, Boner, A, Degani, D., Cancrini, C., Pulisfito, P., Digilio, M. C., Soresina, A., Martino, S., Rondelli, R., Consolini, R., Ruga, E. M., C. a. r. d. i. n. a. l. e., F., Finocchi, A., Romiti, M. L., Martire, B., Bacchetta, R., Albano, V., Carotti, A., Specchia, F., Montin, D., Cocchi, G., Trizzino, A., Bossi, G., Milanesi, O., Azzari, C., Corsello, G., Aiuti, A., Pietrogrande, M. C., Marino, B., Ugazio, A. G., Plebani, A., Digilio, MC, Ruga, EM, Romiti, ML, trizzino, A, Aiuti, Pietrogrande, MC, and Ugazio, AG

Subjects
Male, Pediatrics, 22q11.2 deletion, Delayed Diagnosis, Time Factors, Chromosomes, Human, Pair 22, Developmental Disabilities, digeorge syndrome, Sex Factor, Severity of Illness Index, Retrospective Studie, DiGeorge syndrome, Early Diagnosi, Age Factor, Prospective Studies, Neonatal hypocalcemia, Prospective cohort study, Child, medicine.diagnostic_test, Delayed Diagnosi, Primary immune disorders, Age Factors, del 22q, MIM, Abnormalities, Multiple, Adolescent, Adult, Child, Preschool, DiGeorge Syndrome, Early Diagnosis, Female, Follow-Up Studies, Genetic Testing, Humans, Infant, Infant, Newborn, Monitoring, Physiologic, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Disease Progression, Cohort, Abnormalities, Multiple, Pediatrics, Perinatology and Child Health, Human, medicine.medical_specialty, Time Factor, Monitoring, Developmental Disabilitie, Italian Association of Pediatric Haematology and Oncology, Context (language use), Chromosomes, Follow-Up Studie, Severity of illness, medicine, 22q11DS, 22q11.2 deletion syndrome, AIEOP, Mendelian Inheritance in Man, Preschool, Physiologic, Genetic testing, Settore MED/38 - Pediatria Generale e Specialistica, business.industry, Retrospective cohort study, medicine.disease, Newborn, Prospective Studie, Pair 22, business
Abstract

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In patients diagnosed after 2 years of age, clinical features such as speech and language impairment, developmental delay, minor cardiac defects, recurrent infections, and facial features were the main elements leading to diagnosis. During follow-up (available for 172 patients), the frequency of autoimmune manifestations ( P = .015) and speech disorders ( P = .002) increased. After a median follow-up of 43 months, the survival probability was 0.92 at 15 years from diagnosis. Conclusions Our data show a delay in the diagnosis of 22q11.2 deletion syndrome with noncardiac symptoms. This study provides guidelines for pediatricians and specialists for early identification of cases that can be confirmed by genetic testing, which would permit the provision of appropriate clinical management.

Published
2014

44. Retinal vein occlusion in child with rare mutations in genes for thrombophilia.

Author

Giancotta, C., Sanseviero, M., Talarico, V., La Rosa, M. A., Galati, M. C., Raiola, G., and Miniero, R.

Subjects
RETINAL vein occlusion, GENETIC mutation, HYPERCOAGULATION disorders, RETINAL vein, VISUAL acuity
Abstract

Introduction. Retinal vein occlusions (RVOs) are rare in the younger population. Hematological pro-thrombotic factors are thought to be important in a minority, amplifying an atherosclerotic anatomical predisposition. Case report. Anotherwise healthy 13-year-old girl presented two episodes of sudden decreased vision in few months. Ophthalmological exams pointed out post-thrombotic intra-retinal hemorrhage. All investigations were normal, thrombophilia screen showed factor XII deficiency and genetic mutations of methylenetetrahydrofolate reductase (MTHFR), angiotesin convertin enzyme (ACE) and angiotensinogen (AGT). Two intravitreal injection of bevacizumab was administered with improving visual acuity; subsequently the patient did not report further episodes. Discussion. In addition to traditional factors with procoagulant activity, factor XII deficiency plays an important role in thrombosis's mechanism. Its deficiency causes a marked prolongation of the activated partial thromboplastin time in the laboratory examination. Moreover also MTHFR, ACE and AGT could have been involved in this case, so it is important to evaluate these parameters in the differential diagnosis of RVOs. [ABSTRACT FROM AUTHOR]

Published
2019
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45. Fatty acid profile and proximate composition of fillets from Engraulis encrasicholus, Mullus barbatus, Merluccius merluccius and Sarda sarda caught in Tyrrhenian, Adriatic and Ionian seas

Author

Roncarati, Alessandra, Brambilla, G., Meluzzi, A., Iamiceli, A. L., Fanelli, R., Moret, I., Ubaldi, A., Miniero, R., Sirri, F., Melotti, Paolo, di Domenico, A., Roncarati A., Brambilla G., Meluzzi A., Iamiceli A.L., Fanelli R., Moret I., Ubaldi A., Miniero R., Sirri F., Melotti P., and di Domenico A.

Subjects
MERLUCCIUS MERLUCCIUS, ENGRAULIS ENCRASICHOLUS, MULLUS BARBATUS, PROXIMATE COMPOSITION, AND SARDA SARDA, FATTY ACID PROFILE
Abstract

The study examined the proximate composition, cholesterol content and fatty acid profile of fillet from the most important species captured in Italian seas and commonly consumed in the European Union, such as anchovy (Engraulis encrasicholus L.), red mullet (Mullus barbatus L.), European hake (Merluccius merluccius L.) and Atlantic bonito (Sarda sarda L.). The fish were caught in three different geographic areas of the Italian seas: south Tyrrhenian (ST), south Adriatic (SA) and Ionian (IO). Anchovy from the ST sea had the highest lipid content (2.27%) compared to fish captured in the SA (1.81%) and IO seas (1.91%) (P < 0.01). Red mullet captured in the SA exhibited the highest amount of lipid content (7.54%) compared to fish from the ST (1.82%) and IO seas (3.23%) (P < 0.01). The total cholesterol content of fish did not show significant differences from one geographic area to the other, particularly for European hake (from 98 to 66 mg per 100 g). The fatty acid profile of anchovy species was not affected by the geographical capture area. European hake caught in the ST sea showed the highest proportion of DHA (29.13%) in comparison to those captured in the SA (19.98%) and IO seas (19.84%). Atlantic bonito from the ST had the highest proportions of DHA (24.94%), compared to those from the SA (12.08%) and IO seas (13.83%). The SA bonitos contained a significantly lower proportion of EPA (3.31%) in comparison to fish from both the ST and IO seas (5.66 and 5.17%, respectively). Red mullet captured in the ST exhibited the highest proportions of DHA, n-3 PUFA, and total PUFA, and significantly lower proportions of oleic acid and MUFA. The fish from the ST sea showed better nutritional traits than those from other geographical areas although they all had excellent nutritional traits due to the low fat content and very high n-3 PUFA proportion.

Published
2012

46. LENTIVIRAL VECTOR TRANSDUCED CD34+CELLS FOR THE TREATMENT OF WISKOTT-ALDRICH SYNDROME

Author

Scaramuzza S, Ferrua F, Giannelli S, Castiello MC, Cicalese MP, Evangelio C, Biasco L, Assanelli A, Biffi A, Casiraghi M, Bosticardo M, Miniero R, Finocchi A, Metin A, Banerjee PP, Orange JS, CICERI , FABIO, Roncarolo MG, Villa A, Naldini L, Aiuti A., Scaramuzza, S, Ferrua, F, Giannelli, S, Castiello, Mc, Cicalese, Mp, Evangelio, C, Biasco, L, Assanelli, A, Biffi, A, Casiraghi, M, Bosticardo, M, Miniero, R, Finocchi, A, Metin, A, Banerjee, Pp, Orange, J, Ciceri, Fabio, Roncarolo, Mg, Villa, A, Naldini, L, and Aiuti, A.

Published
2012

47. Intensified immunosuppression with ATG reduces graft rejection in class III beta thalasemia patients undergoing BMT from HLA-identical siblings after myeloablative conditioning

Author

Marktel S, Chiesa R, Cappelli B, Roccia T, Biral E, Calzi E, Frugnoli I, Noe A, Crocchiolo R, Soliman C, Miniero R, Lucarelli G, Roncarolo MG, CICERI , FABIO, Marktel, S, Chiesa, R, Cappelli, B, Roccia, T, Biral, E, Calzi, E, Frugnoli, I, Noe, A, Crocchiolo, R, Soliman, C, Miniero, R, Lucarelli, G, Ciceri, Fabio, and Roncarolo, Mg

Published
2008

49. Long-term safety and correction of immune and metabolic defects in ADA-SCID children treated with gene therapy

Author

Aiuti A, Cassani B, Benninghoff U, Cattaneo F, Callegaro L, Scaramuzza S, Andolfi G, Brigida I, Mirolo M, Tabucchi A, Carlucci F, Eibl M, Aker M, Slavin S, Galimberti S, Valsecchi MG, Chiesa R, Marktel S, Miniero R, Roncarolo MG, CICERI , FABIO, BORDIGNON, CLAUDIO, Aiuti, A, Cassani, B, Benninghoff, U, Cattaneo, F, Callegaro, L, Scaramuzza, S, Andolfi, G, Brigida, I, Mirolo, M, Tabucchi, A, Carlucci, F, Eibl, M, Aker, M, Slavin, S, Galimberti, S, Valsecchi, Mg, Chiesa, R, Marktel, S, Ciceri, Fabio, Miniero, R, Bordignon, Claudio, and Roncarolo, Mg

Published
2007

50. Long-term safety and efficacy of stem cell gene therapy for ADA-SCID

Author

Aiuti A, Benninghoft U, Cassani B, Cattaneo F, Callegaro L, Andolfi G, Mirolo M, Scaramuzza S, Marktel S, Tabucchi A, Carlucci F, Eibl M, Aker M, Slavin S, Miniero R, Roncarolo MG, CICERI , FABIO, BORDIGNON, CLAUDIO, Aiuti, A, Benninghoft, U, Cassani, B, Cattaneo, F, Callegaro, L, Andolfi, G, Mirolo, M, Scaramuzza, S, Marktel, S, Tabucchi, A, Carlucci, F, Eibl, M, Aker, M, Slavin, S, Ciceri, Fabio, Miniero, R, Bordignon, Claudio, and Roncarolo, Mg

Published
2006

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