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59. Clonal chromosome changes in non-neoplastic ureters

Author

Casalone, R., primary, Minelli, E., additional, Righi, R., additional, Granata, P., additional, Meroni, E., additional, Caruso, V., additional, Mazzola, D., additional, Salvadore, M., additional, Pozzi, E., additional, and Bono, A.V., additional

Published
1995
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60. Cerebral germ cell tumor and XXY karyotype

Author

Casalone, R., primary, Righi, R., additional, Granata, P., additional, Portentoso, P., additional, Minelli, E., additional, Meroni, E., additional, Solero, C.L., additional, and Allegranza, A., additional

Published
1994
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68. Laparoscopic oophoropexy for recurrent adnexal torsion.

Author

Righi, R V, McComb, P F, and Fluker, M R

Abstract

Torsion of the adnexa has traditionally been treated by adnexectomy because of the fear of emboli departing from thrombosed ovarian veins. Several recent reports have described successful conservative management with unwinding of the twisted adnexa. As the trend toward conservative management progresses, the incidence of recurrent adnexal torsion may increase. We present a case of a 33 year old gravida 3, para 2 Caucasian female who presented at 7 weeks gestation complaining of symptoms similar to those experienced during an episode of right ovarian torsion treated by laparoscopic unwinding 6 years earlier. Colour Doppler sonography revealed absent flow in the right adnexa. The twisted right adnexa containing the presumed corpus luteum of pregnancy was laparoscopically unwound. Using an extracorporeal suturing technique, a laparoscopic oophoropexy was performed to prevent any further rotatory movement. This appears to be the first reported case of laparoscopic oophoropexy for a recurrent ovarian torsion; we encourage the use of this simple, minimally invasive procedure in cases of recurrent adnexal torsion. [ABSTRACT FROM AUTHOR]

Published
1995

77. Perfil da automedicação no Brasil

Author

Arrais Paulo Sérgio D., Coelho Helena Lutéscia L., Batista Maria do Carmo D. S., Carvalho Marisa L., Righi Roberto E., and Arnau Josep Maria

Subjects
Automedicação/estatística & dados numéricos, Uso de medicamentos/estatística & dados numéricos, Public aspects of medicine, RA1-1270
Abstract

INTRODUÇÃO: Os dados apresentados fazem parte de um estudo multicêntrico sobre automedicação na América Latina realizado pela Organização Mundial de Saúde (OMS). Objetivou-se traçar um perfil da automedicação através da análise da procura de medicamentos em farmácias sem prescrição médica ou aconselhamento do farmacêutico/balconista. MATERIAL E MÉTODO: As especialidades farmacêuticas foram classificadas pelo código "Anatomical Therapeutical Classification" e analisadas sob quatro aspectos qualitativos: valor intrínseco, essencialidade (lista da OMS e Relação Nacional de Medicamentos Essenciais (RENAME), combinação em dose fixa e necessidade de prescrição médica. RESULTADOS: Foram solicitadas 5.332 especialidades farmacêuticas (785 diferentes princípios ativos), sendo 49,5% combinações em dose fixas, 53,0% de valor intrínseco não elevado, 44,1% sujeitos a prescrição médica, 71,0% não essenciais e 40,0% baseados em prescrições médicas anteriores. Os medicamentos mais solicitados foram analgésicos (17,3%), descongestionantes nasais (7,0%), antiinflamatório/antireumático e antiinfecciosos de uso sistêmico, ambos com 5,6%. CONCLUSÕES: Os dados sugerem que a automedicação no Brasil reflete as carências e hábitos da população, é consideravelmente influenciada pela prescrição médica e tem a sua qualidade prejudicada pela baixa seletividade do mercado farmacêutico.

Published
1997

78. Carboplatin (CBDCA) and vinorelbine (V) in the treatment of patients (Pts) affected by advanced non-small cell lung cancer (NSCLC)

Author

Santomaggio, C., Righi, R., Tucci, E., Pepi, F., Algeri, R., Andrei, A., Ghezzi, P., and Rinaldini, M.

Subjects
Lung cancer, Non-small cell, Carboplatin -- Physiological aspects, Chemotherapy, Combination -- Evaluation, Business, Health care industry
Abstract

AUTHORS: C. Santomaggio, R. Righi, E. Tucci, F. Pepi, R. Algeri, A. Andrei, P. Ghezzi and M. Rinaldini. Pneumology, Florence; Radiotherapy, Siena; Medicine, Grosseto; and Oncology, Arezzo, Italy. According to [...]

Published
1994

80. Clinical features and therapeutic management of patients admitted to Italian acute hospital psychiatric units: the PERSEO (psychiatric emergency study and epidemiology) survey

Author

Russo Federico, Righi Roberto, Minervini Lina, Margari Francesco, Casacchia Massimo, Boncompagni Giancarlo, Boccalon Roberto M, Ballerini Andrea, Salteri Andrea, Frediani Sonia, Rossi Andrea, and Scatigna Marco

Subjects
Psychiatry, RC435-571
Abstract

Abstract Background The PERSEO study (psychiatric emergency study and epidemiology) is a naturalistic, observational clinical survey in Italian acute hospital psychiatric units, called SPDCs (Servizio Psichiatrico Diagnosi e Cura; in English, the psychiatric service for diagnosis and management). The aims of this paper are: (i) to describe the epidemiological and clinical characteristics of patients, including sociodemographic features, risk factors, life habits and psychiatric diagnoses; and (ii) to assess the clinical management, subjective wellbeing and attitudes toward medications. Methods A total of 62 SPDCs distributed throughout Italy participated in the study and 2521 patients were enrolled over the 5-month study period. Results Almost half of patients (46%) showed an aggressive behaviour at admission to ward, but they engaged more commonly in verbal aggression (38%), than in aggression toward other people (20%). A total of 78% of patients had a psychiatric diagnosis at admission, most frequently schizophrenia (36%), followed by depression (16%) and personality disorders (14%), and no relevant changes in the diagnoses pattern were observed during hospital stay. Benzodiazepines were the most commonly prescribed drugs, regardless of diagnosis, at all time points. Overall, up to 83% of patients were treated with neuroleptic drugs and up to 27% received more than one neuroleptic either during hospital stay or at discharge. Atypical and conventional antipsychotics were equally prescribed for schizophrenia (59 vs 65% during stay and 59 vs 60% at discharge), while atypical drugs were preferred in schizoaffective psychoses (72 vs 49% during stay and 70 vs 46% at discharge) and depression (41 vs 32% during stay and 44 vs 25% at discharge). Atypical neuroleptics were slightly preferred to conventional ones at hospital discharge (52 vs 44%). Polypharmacy was in general widely used. Patient attitudes toward medications were on average positive and self-reported compliance increased during hospital stay. Conclusion Results confirm the widespread use of antipsychotics and the increasing trend in atypical drugs prescription, in both psychiatric in- and outpatients.

Published
2007
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81. Main clinical features in patients at their first psychiatric admission to Italian acute hospital psychiatric wards. The PERSEO study

Author

Russo Federico, Righi Roberto, Minervini Lina, Margari Francesco, Casacchia Massimo, Boncompagni Giancarlo, Boccalon Roberto M, Ballerini Andrea, Salteri Andrea, Frediani Sonia, Rossi Andrea, and Scatigna Marco

Subjects
Psychiatry, RC435-571
Abstract

Abstract Background Few data are available on subjects presenting to acute wards for the first time with psychotic symptoms. The aims of this paper are (i) to describe the epidemiological and clinical characteristics of patients at their first psychiatric admission (FPA), including socio-demographic features, risk factors, life habits, modalities of onset, psychiatric diagnoses and treatments before admission; (ii) to assess the aggressive behavior and the clinical management of FPA patients in Italian acute hospital psychiatric wards, called SPDCs (Servizio Psichiatrico Diagnosi e Cura = psychiatric service for diagnosis and management). Method Cross-sectional observational multi-center study involving 62 Italian SPDCs (PERSEO – Psychiatric EmeRgency Study and EpidemiOlogy). Results 253 FPA aged Conclusion Subjects presenting at their first psychiatric ward admission have often not undergone previous adequate psychiatric assessment and diagnostic procedures. The first hospital admission allows diagnosis and psychopharmacological treatment to be established. In our population, aggressive behaviors were rather frequent, although most commonly verbal. Psychiatric symptoms, as evaluated by psychiatrists and patients, improved significantly from admission to discharge both for FPA and non-FPA patients.

Published
2007
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82. An observational study in psychiatric acute patients admitted to General Hospital Psychiatric Wards in Italy

Author

Margari Francesco, Casacchia Massimo, Boncompagni Giancarlo, Boccalon Roberto, Ballerini Andrea, Minervini Lina, Righi Roberto, Russo Federico, and Salteri Andrea

Subjects
Psychiatry, RC435-571
Abstract

Abstract Objectives this Italian observational study was aimed at collecting data of psychiatric patients with acute episodes entering General Hospital Psychiatric Wards (GHPWs). Information was focused on diagnosis (DSM-IV), reasons of hospitalisation, prescribed treatment, outcome of aggressive episodes, evolution of the acute episode. Methods assessments were performed at admission and discharge. Used psychometric scales were the Brief Psychiatric Rating Scale (BPRS), the Modified Overt Aggression Scale (MOAS) and the Nurses' Observation Scale for Inpatient Evaluation (NOSIE-30). Results 864 adult patients were enrolled in 15 GHPWs: 728 (320 M; mean age 43.6 yrs) completed both admission and discharge visits. A severe psychotic episode with (19.1%) or without (47.7%) aggressive behaviour was the main reason of admission. Schizophrenia (42.8% at admission and 40.1% at discharge) and depression (12.9% at admission and 14.7% at discharge) were the predominant diagnoses. The mean hospital stay was 12 days. The mean (± SD) total score of MOAS at admission, day 7 and discharge was, respectively, 2.53 ± 5.1, 0.38 ± 2.2, and 0.21 ± 1.5. Forty-four (6.0%) patients had episodes of aggressiveness at admission and 8 (1.7%) at day 7. A progressive improvement in each domain/item vs. admission was observed for MOAS and BPRS, while NOSIE-30 did not change from day 4 onwards. The number of patients with al least one psychotic drug taken at admission, in the first 7 days of hospitalisation, and prescribed at discharge, was, respectively: 472 (64.8%), 686 (94.2%) and 676 (92.9%). The respective most frequently psychotic drugs were: BDZs (60.6%, 85.7%, 69.5%), typical anti-psychotics (48.3%, 57.0%, 49.6%), atypical anti-psychotics (35.6%, 41.8%, 39.8%) and antidepressants (40.9%, 48.8%, 43.2%). Rates of patients with one, two or > 2 psychotic drugs taken at admission and day 7, and prescribed at discharge, were, respectively: 24.8%, 8.2% and 13.5% in mono-therapy; 22.0%, 20.6% and 26.6% with two drugs, and 53.2%, 57.8% and 59.0% with > two drugs. Benzodiazepines were the most common drugs both at admission (60.0%) and during hospitalisation (85.7%), and 69.5% were prescribed at discharge. Conclusion patients with psychiatric diseases in acute phase experienced a satisfactory outcome following intensified therapeutic interventions during hospitalisation.

Published
2007
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84. Abstracts

Author

Treibel, Thomas A., Fridman, Yaron, Hackman, Brianne, Kadakkal, Ajay, Sayeed, Aatif, Maanja, Maren, Daya, Hussein Abu, Moon, James C., Wong, Timothy C., Schelbert, Erik B., Duca, Franz, Kammerlander, Andreas A., Zotter-Tufaro, Caroline, Aschauer, Stefan, Bonderman, Diana, Mascherbauer, Julia, Schwitter, Juerg, Beigelman-Aubry, Catherine, Peguret, Nicolas, Stuber, Matthias, Delacoste, Jean, Belmondo, Bastien, Lovis, Alban, Simons, Julien, Long, Olivier, Grant, Kathleen, Berchier, Gregoire, Rohner, Chantal, Bonanno, Gabriele, Coppo, Simone, Ozsahin, Esat-Mahmut, Qanadli, Salah, Meuli, Reto, Bourhis, Jean, Ide, Seiko, Riesenkampff, Eugenie, Chiasson, David, Dipchand, Anne I., Kantor, Paul F., Chaturvedi, Rajiv R., Yoo, Shi-Joon, Grosse-Wortmann, Lars, Sandrini, C., Aquaro, GD, De Marchi, D, Ait Ali, L, Khraiche, D, Boddaert, N, Bonnet, D, Raimondi, F, Fridman, Yaron, Hackman, Brianne E., Kadakkal, Ajay, Daya, Hussein Abu, Wong, Timothy C., Schelbert, Erik B., Angela, Susana, Alberto, Cipriani, Manuel, De Lazzari, Federico, Marin, Francesca, Prevedello, Bendetta, Giorgi, Giorgio, De Conti, Giuseppe, Tarantini, Luisa, Cacciavillani, Emanuele, Bertaglia, Domenico, Corrado, Sabino, Iliceto, Martina, Perazzolo Marra, Camaioni, Claudia, Morlon, Lucas, Vergé, Marie-Philippe, Jais, Pierre, Roudaut, Raymond, Laurent, Francois, Lafitte, Stéphane, Cochet, Hubert, Réant, Patricia, Bohnen, S., Radunski, U. K., Lund, G. K., Senel, M., Avanesov, M., Tahir, E., Stehning, C., Adam, G., Blankenberg, S., Muellerleile, K., Khanji, Mohammed Y., Balawon, Armida, Boubertakh, Redha, Petersen, Steffen E, Hilbert, Sebastian, Spampinato, Ricardo, Oebel, Sabrina, Hindricks, Gerhard, Bollmann, Andreas, Jahnke, Cosima, Paetsch, Ingo, Goetschalckx, K., Bogaert, J., Desmet, W., Toth, A., Merkely, B., Janssens, S., Claus, P., Calvieri, C., Preda, M. B., Perfetti, A., Valaperta, R., Secchi, F., Fedele, F., Martelli, F., Lombardi, M., Reinstadler, Sebastian J., Eitel, Charlotte, Fuernau, Georg, de Waha, Suzanne, Desch, Steffen, Mende, Meinhard, Metzler, Bernhard, Schuler, Gerhard, Thiele, Holger, Eitel, Ingo, Maestrini, Viviana, Mun, Hong Cheang, Kotwinski, Paul, Rosmini, Stefania, Sanders, Julie, Lloyd, Guy, Dudley, J. Pennell, Kellman, Peter, Hugh, E. Montgomery, Manisty, Charlotte, James, C. Moon, James, S., Waterhouse, D.F., Murphy, T.M., Kenny, C., O'Hanlon, R., Bastiaenen, Rachel, Cox, Andrew T., Wijeyeratne, Yanushi, Colbeck, Nicholas, Pakroo, Nadia, Ahmed, Hammad, Bunce, Nick, Anderson, Lisa, Prasad, Sanjay, Sharma, Sanjay, Behr, Elijah R., Reid, A. B., Miller, C., Jovanovic, A., Woolfson, P., Abidin, N., Schmitt, M., Amadu, A.M., Rodrigues, J.C.L., Dastidar, A. Ghosh, Baritussio, A., Lawton, C., Venuti, G., Meloni, G.B., Conti, M., Bucciarelli-Ducci, C., Pontone, Gianluca, Andreini, Daniele, SoLbiati, Anna, Guglielmo, Marco, Mushtaq, Saima, Baggiano, Andrea, Beltrama, Virginia, Rota, Cristina, Guaricci, Andrea I., Pepi, Mauro, Wang, Yufei, Joannic, David, Juillion, Patrick, Delassus, P., Monnet, Aurélien, Lalande, Alain, Fontaine, Jean-Francois, Zweerink, A, Allaart, CP, Wu, L, Kuijer, JPA, Beek, AM, Croisille, P, Clarysse, P, van Rossum, AC, Nijveldt, R, Bulluck, Heerajnarain, Rosmini, Stefania, Abdel-Gadir, Amna, Bhuva, Anish, Treibel, Thomas A, White, Steven K, Hammond-Haley, Matthew, Sirker, Alex, Herrey, Anna, Manisty, Charlotte, Yellon, Derek M, Kellman, Peter, Moon, James C, Hausenloy, Derek J, Garg, P., Hassell, M, Foley, J., Ripley, D.P., Dobson, L., Swoboda, P.P., Fent, G., Musa, T.A., Erhayiem, B., Haaf, P., Greenwood, J.P., Nijveldt, R., Westenberg, J.J.M., Geest, R.J.V.D., Plein, S., Rodrigues, Jonathan C L, Amadu, Antonio Matteo, Dastidar, Amardeep Ghosh, Szantho, Gergley, Lyen, Stephen, Godsave, Cattleya, Ratcliffe, Laura E K, Burchell, Amy E, Hart, Emma C, Hamilton, Mark C K, Nightingale, Angus K, Paton, Julian F R, Manghat, Nathan E, Bucciarelli-Ducci, Chiara, Hafyane, Tarik, Teixeira, Tiago, Greiser, Andreas, Mongeon, Francois Pierre, Haifa, Almutairi, Mohammed, Khanji, Redha, Boubertakh, Marc, Miquel, Steffen, Petersen, Greulich, S., Kitterer, D., Latus, J., Henes, J., Kurmann, R., Gloekler, S., Wahl, A., Buss, S., Katus, H., Bobbo, M., Lombardi, M., Braun, N., Alscher, M.D., Sechtem, U., Mahrholdt, H., Meloni, A., Neri, M.G., Preziosi, P., Grassedonio, E., Schicchi, N., Keilberg, P., Pulini, S., Facchini, E., Positano, V., Pepe, A., Nazir, Sheraz A., Shetye, Abhishek, Khan, Jamal N., Singh, Anvesha, Kanagala, Prathap, Swarbrick, Daniel, Gulsin, Gaurav, Graham-Brown, Matthew, Squire, Iain, Gershlick, Anthony, McCann, Gerry P., Stefan Biesbroek, P., Amier, Raquel P., Teunissen, Paul F.A., Robbers, Lourens F.H.J., Beek, Aernout M., van Rossum, Albert C., Hofman, Mark B.M., van Royen, Niels, Nijveldt, Robin, Arenja, Nisha, Riffel, Johannes H, Djiokou, Charly Noel, Andre, Florian, Fritz, Thomas, Halder, Manuel, Thomas, Zelniker, Korosoglou, Grigorios, Katus, Hugo A, Buss, Sebastian J, Kammerlander, Andreas A., Schwaiger, Marianne L., Duca, Franz, Aschauer, Stefan, Marzluf, Beatrice A., Zotter-Tufaro, Caroline, Dalos, Daniel, Pfaffenberger, Stefan, Bonderman, Diana, Mascherbauer, Julia, Sayeed, Aatif, Fridman, Yaron, Hackman, Brianne, Kadakkal, Ajay, Maanja, Maren, Daya, Hussein Abu, Wong, Timothy C., Schelbert, Erik B., Ricci, F., Barison, A., Todiere, G., Gaeta, R., Galllina, S., Emdin, M., De Caterina, R., Aquaro, G.D., Bernhardt, Peter, Buckert, Dominik, Dyckmanns, Nils, Rottbauer, Wolfgang, Meierhofer, Christian, Kühn, Andreas, Shehu, Nerejda, Müller, Jan, Stern, Heiko, Ewert, Peter, Fratz, Sohrab, Vogt, Manfred, Devos, Daniel G.H., De Groote, Katya, Babin, Danilo, Demulier, Laurent, Taeymans, Yves, Westenberg, Jos J., Van Bortel, Luc, Segers, Patrick, Achten, Eric, De Schepper, Jean, Rietzschel, Ernst, Ruecker, Beate, Geiger, Julia, Makki, Malek, Burkhardt, Barbara, Kellenberger, Christian J., Buechel, Emanuela R. Valsangiacomo, Burkhardt, B.E.U., Kellenberger, C.J., Geiger, J., Ruecker, B., Buechel, E.R. Valsangiacomo, Kamphuis, Vivian P., Elbaz, Mohammed S.M., Kroft, Lucia J.M., van der Geest, Rob J., de Roos, Albert, Blom, Nico A., Westenberg, Jos J.M., Roest, Arno A.W., De Lazzari, Manuel, Cipriani, Alberto, Susana, Angela, Rizzo, Stefania, Giorgi, Benedetta, Carmelo, Lacognata, Bertaglia, Emanuele, Bauce, Barbara, Corrado, Domenico, Thiene, Gaetano, Marra, Martina Perazzolo, Basso, Cristina, Iliceto, Sabino, Nederend, I., Roest, A.A.W., van den Boogaard, P.J., ten Harkel, A.D.J., de Geus, J.C.N., Kroft, L.J.M., de Roos, A., Westenberg, J.J.M., Dux-Santoy, Lydia, Kale, Raquel, Teixido-Tura, Gisela, Maldonado, Giuliana, Huguet, Marina, Garcia-Dorado, David, Evangelista, Artur, Rodriguez-Palomares, Jose, Cavalcante, João L., Rijal, Shasank, Schindler, John T., Gleason, Thomas G., Lee, Joon S., Schelbert, Erik B., Rosmini, Stefania, Bulluck, Heerajnarain, Treibel, Thomas A, Bhuva, Anish, Abdel-Gadir, Amna, Culotta, Veronica, Merghani, Ahmed, Maestrini, Viviana, Herrey, Anna S, Kellman, Peter, Manisty, Charlotte, Moon, James C, Liu, B., Hayer, M.K., Baig, S., Shah, T., Rooney, S.J., Edwards, N.C., Steeds, R.P., Fent, G.J., Garg, P., Swoboda, P., Dobson, L.E., Musa, T.A., Foley, J.F., Haaf, P., Greenwood, J.P., Plein, S., Claessen, G., Schnell, F., Bogaert, J., Dymarkowski, S., Pattyn, N., Claus, P., Van Cleemput, J., Gerche, A. La, Heidbuchel, H., Behar, Jonathan, Toth, Daniel, Reiml, Sabrina, Panayiotou, Maria, Claridge, Simon, Jackson, Tom, Sohal, Manav, Webb, Jessica, O'Neill, Mark, Brost, Alexander, Mountney, Peter, Razavi, Reza, Rhode, Kawal, Rinaldi, Christopher Aldo, Oebel, S., Arya, A., Hilbert, S., Bollmann, A., Hindricks, G., Jahnke, C., Paetsch, I., Dinov, B., Baritussio, A., Perazzolo Marra, M., Ghosh Dastidar, A., Rodrigues, J., Zorzi, A., Susana, A., Scatteia, A., De Garate, E., Mattesi, G., Strange, J., Corrado, D., Bucciarelli-Ducci, C., Ranjit Arnold, J., Jerosch-Herold, Michael, Karamitsos, Theodoros D., Francis, Jane M., Bhamra-Ariza, Paul, Sarwar, Rizwan, Choudhury, Robin, Selvanayagam, Joseph B., Neubauer, Stefan, Tayal, Upasana, Scott, Andrew D, Wage, Rick, Ferreira, Pedro, Pennell, Dudley, Zhong, Xiaodong, Epstein, Fred, Firmin, David, Prasad, Sanjay, Kallifatidis, Alexandros, Prousalis, Anastasios, Mouratoglou, Sophia-Anastasia, Giannakoulas, George, Deligianni, Xenia, Bakaloudis, Michail, Magganaris, Nikolaos, Sianos, George, Karvounis, Haralampos, Santini, Francesco, Garg, P., Aziz, R., Foley, J.R.J., Fent, G., Musa, T.A., Haaf, P., Dobson, L., Swoboda, P.P., Greenwood, J.P., Plein, S., Geest, R.J.V.D., Westenberg, J.J.M., Beitzke, D., Rasul, S., Wadsak, W., Mitterhauser, M., Nolz, R., Stelzmueller, M., Loewe, C., Hacker, M., Funk, Stephanie, Kermer, Josephine, Dogangüzel, Serkan, von Knobelsdorff-Brenkenhoff, Florian, Schulz-Menger, Jeanette, Kolker, Shimon, Weisz, Giora, Bogot, Naama, Halpern, Irit Hadas, Wolak, Arik, Rutz, Tobias, Ginami, Giulia, Piccini, Davide, Coppo, Simone, Vincenti, Gabriella, Stuber, Matthias, Schwitter, Jürg, Safdar, Komal S, Gao, Xuexin, Ambach, Stephanie, Taylor, Michal D, Moore, Ryan, Taylor, Robin J, Toro-Salazar, Olga, Jeffries, John L, Bartone, Cheryl, Raman, Subha V, Mazur, Wojciech, Valente, F., Rodriguez-Palomares, J.F., Gutierrez, L., Pineda, V., Agliano, B., Galian, L., Teixido, G., Gonzalez-Alujas, M.T., Evangelista, A., Garcia-Dorado, D., Murdoch, R., Gandy, S., Nicholas, R., Houston, G., Martin, P., Muir, J., Matthew, S., Ramkumar, P. Guntur-, Cavin, I., Macaione, F., Barison, A., Pescetelli, I., Pali, F., Pizzino, F., Terrizzi, A., Di Lisi, D., Novo, G., Todiere, G., Assennato, P., Novo, S., Aquaro, G.D., Dastidar, Amardeep Ghosh, McAlindon, Elisa, Rodrigues, Jonathan, Baritussio, Anna, Scatteia, Alessandra, De Garate, Estefania, Benny Lawton, Chris, Erdei, Tamas, Szantho, Gergely, Hamilton, Mark, Bucciarelli-Ducci, Chiara, Pontone, Gianluca, Andreini, Daniele, Rota, Cristina, Guglielmo, Marco, Mushtaq, Saima, Baggiano, Andrea, Beltrama, Virginia, Solbiati, Anna, Guaricci, Andrea I., Pepi, Mauro, Grigoratos, Chrysanthos, Bratis, Konstantinos, Henningson, Markus, Dell'Omodarme, Matteo, Puntmann, Valentina O., Nagel, Eike, Meloni, Antonella, Giunta, Nicola, Giuliano, Pietro, Neri, Maria Giovanna, Restaino, Gennaro, Renne, Stefania, Quota, Alessandra, Positano, Vincenzo, De Marchi, Daniele, Pepe, Alessia, Pedrotti, Patrizia, Campadello, Paola, Masciocco, Gabriella, Facchetti, Rita, Milazzo, Angela, Quattrocchi, Giuseppina, Giannattasio, Cristina, Frigerio, Maria, Roghi, Alberto, Rimoldi, Ornella, De Garate, Estefania, Ghosh Dastidar, Amardeep, Baritussio, Anna, Scatteia, Alessandra, Amadu, Antonio, Venuti, Giuseppe, Rodrigues, Jonathan C., Bucciarelli-Ducci, Chiara, Careri, Giulia, Castelvecchio, Serenella, Camporeale, Antonia, Secchi, Francesco, Menicanti, Lorenzo, Lombardi, Massimo, Kockova, R., Sedlacek, K., Wichterle, D., Sikula, V., Tintera, J., Sukupova, L., Kautznerova, D., Segetova, M., Praveckova, A., Langova, R., Kryze, L., El-Husseini, W., Kautzner, J., Oebel, S., Dinov, B., Arya, A., Hilbert, S., Sommer, P., Bollmann, A., Hindricks, G., Paetsch, I., Jahnke, C., Nazir, Sheraz A., Greenwood, John P., Shetye, Abhishek, Khan, Jamal N., Singh, Anvesha, Kanagala, Prathap, Swarbrick, Daniel, Gulsin, Gaurav, Graham-Brown, Matthew, Gershlick, Anthony, McCann, Gerry P., Grigoratos, Chrysanthos, Liga, Riccardo, Bennatti, Elena, Barison, Andrea, Todiere, Giancarlo, Aquaro, Giovanni Donato, Dell'Omodarme, Matteo, Lombardi, Massimo, Emdin, Michele, Masci, Pier Giorgio, Barison, A, Ortalda, A, Todiere, G, Grigoratos, C, Vergaro, G, Mirizzi, G, Martini, N, De Marchi, D, Keilberg, P, Passino, C, Aquaro, GD, Emdin, M, Swoboda, Peter P, McDiarmid, Adam K, Erhayiem, Bara, Fent, Graham J, Dobson, Laura E, Garg, Pankaj, Musa, Tarique A, Foley, James R, Page, Stephen P, Greenwood, John P, Plein, Sven, Bulluck, Heerajnarain, Rosmini, Stefania, Abdel-Gadir, Amna, Bhuva, Anish, Treibel, Thomas A, White, Steven K, Fontana, Marianna, Ramlall, Manish, Hamarneh, Ashraf, Sirker, Alex, Herrey, Anna, Manisty, Charlotte, Yellon, Derek M, Kellman, Peter, Moon, James C, Hausenloy, Derek J, Broncano, J., Luna, A., Noguerol, T. Martin –, Caro, P., Toro-Cebada, R., Gonzalez, J. 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Jimenez, Zamorano, JL., Valente, F., Gutierrez, L., Maldonado, G., Pineda, V., Agliano, B., Galian, L., Teixido, G., Gonzalez-Allujas, MT., Evangelista, A., Garcia-Dorado, D., Rodriguez-Palomares, JF., Fratz, Sohrab, Belker, Kristina, Naumann, Susanne, Martinoff, Stefan, Stern, Heiko, Shehu, Nerejda, Mkrtchyan, Naira, Meierhofer, Christian, Eicken, Andreas, Ewert, Peter, Hilbert, Sebastian, Weber, Alexander, Oebel, Sabrina, Hindricks, Gerhard, Jahnke, Cosima, Paetsch, Ingo, van der Palen, RLF., Roest, AAW., van den Boogaard, PJ., Blom, NA., de Roos, A., Westenberg, JJM., Piatti, Filippo, Sturla, Francesco, Pirola, Selene, Votta, Emiliano, Nesteruk, Igor, Lombardi, Massimo, Corte, Alessandro Della, Bissell, Malenka, Caiani, Enrico Gianluca, Redaelli, Alberto, Berlot, B., Golfin, C. Fernandez, Hinojar, R., Esteban, A., Mendez, MA Fernandez, Megias, A., Gomez, A. Gonzalez, García, A., Alonso, G., Marco, A., Casas, E., Nacher, JJ. Jimenez, Zamorano, JL., Baggi, Chiara, Piatti, Filippo, Sturla, Francesco, Votta, Emiliano, Pluchinotta, Francesca, Lombardi, Massimo, Redaelli, Alberto, Hinojar, R., Golfin, C. Fernandez, Esteban, A., Mendez, MA Fernandez, Megias, A., Gonzalez Gomez, A., García, A., Alonso, G., Marco, A., Nacher, JJ. Jimenez, Zamorano, JL., McAlindon, Elisa, Dastidar, Amardeep, Bucciarelli-Ducci, Chiara, McAlindon, Elisa, Littlejohns, Ben, Suleiman, Saadeh, Baumbach, Andreas, Bucciarelli-Ducci, Chiara, McAlindon, Elisa, Vizzi, Vincenzo, Baumbach, Andreas, Bucciarelli-Ducci, Chiara, Tanaka, Kaoru, Fierens, Yves, Nijs, Jan, De Mey, Johan, Lai, Peng, Raeymaekers, Hubert, Elbaz, Mohammed S.M., Toger, Johannes, Heiberg, Einar, Westenberg, Jos J., Solana, Ana Beatriz, Hafalir, Fatih, Ghedin, Piero, Lai, Peng, Shimakawa, A., Anja, C., Fratz, Sohrab, McGill, Laura-Ann, Ferreira, Pedro, Scott, Andrew D, Nielles-Vallespin, Sonia, Giannakidis, Archontis, J Kilner, Philip, Gatehouse, Peter D, de Silva, Ranil, Firmin, David N, Pennell, Dudley J, Merten, Constanze, Beurich, Hans-Wilko, Zachow, Dirk, El-Mawardy, Mohamed, Abdel-Wahab, Mohamed, Richardt, Gert, Merten, Constanze, Beurich, Hans-Wilko, Zachow, Dirk, Abdel-Wahab, Mohamed, El-Mawardy, Mohamed, Tölg, Ralph, Richardt, Gert, De Garate, Estefania, Biglino, Giovanni, Aileen, Wilson, Dodd, James, Bucciarelli-Ducci, Chiara, Salinas, GL. Alonso, Gómez, A. González, Hinojar, R., Golfín, C. Fernández, Esteban, A., del Castillo, A. Marco, Monteagudo, J., Izco, M. Pascual, Megías, A., Martín, A. García, Nacher, JJ. Jiménez, Zamorano, JL, Dastidar, Amardeep Ghosh, Carpenter, Alexander, Rodrigues, Jonathan, Palazzuoli, Alberto, Wilson, Catherine, Kestenbaum, Samantha, Baritussio, Anna, Baumbach, Andreas, Nightingale, Angus, Bucciarelli-Ducci, Chiara, Dastidar, Amardeep Ghosh, Rodrigues, Jonathan, Szantho, Gergely, McAlindon, Elisa, Baritussio, Anna, Scatteia, Alessandra, De Garate, Estefania, Lawton, Chris Benny, Erdei, Tamas, Manghat, Nathan, Hamilton, Mark, Bucciarelli-Ducci, Chiara, Nazir, Sheraz A., Greenwood, John P., Shetye, Abhishek, Khan, Jamal N., Singh, Anvesha, Kanagala, Prathap, Swarbrick, Daniel, Gulsin, Gaurav, Graham-Brown, Matthew, Gershlick, Anthony, McCann, Gerry P., Pais, João, Picarra, Bruno, Santos, Ana Rita, Guerreiro, Rui, Congo, Kisa Hyde, Carvalho, João, Neves, David, and Aguiar, José

Abstract

Objectives: Myocardial fibrosis in noninfarcted myocardium is emerging as a principal phenotype of vulnerability to adverse events such as mortality and hospitalization for heart failure (HHF), but its optimal noninvasive measurement remains uncertain despite consistently robust histologic validation data for extracellular volume fraction (ECV). We therefore compared ECV, native T1, post contrast T1, the gadolinium contrast partition coefficient (lambda), and the presence of nonischemic scar in their associations with mortality and HHF outcomes. Method: To quantify of myocardial fibrosis, we performed T1 mapping (MOLLI) in basal and mid short axis slices with cardiovascular magnetic resonance (CMR) before contrast and 12-30 minutes post contrast bolus in 1185 consecutive patients without amyloidosis, hypertrophic or stress cardiomyopathy. We assessed associations with outcomes using Kaplan-Meier plots and chi square values from univariable Cox regression models. All standard T1 mapping parameters were obtained: native and post contrast myocardial T1, the partition coefficient lambda, and ECV. ECV = (1-hematocrit) · [ΔR1myocardium]/[ΔR1bloodpool], where R1 = 1/T1 Late gadolinium enhancement imaging with phase sensitive reconstruction identified nonischemic scar. Results: Over a median of 1.7 years, 111 individuals experienced events after CMR: 55 HHF events and 74 deaths. ECV yielded better separation of Kaplan-Meier curves in a dose dependent fashion (Figure) and also stronger associations with the combined endpoint of death or HHF. The ECV chi square (77.3, p < 0.001) was at least twice as large as the Native T1 chi square (37.5, p < 0.001), the lambda chi square (34.8, p < 0.001) and nonischemic scar (chi square = 20.5, p<0.001). Post-contrast T1 was not associated with outcomes, even when adjusting further for time after contrast bolus, renal function, and patient weight (chi square <3, p >0.10). Conclusion: Analogous to histologic previously published validation data, quantitative ECV myocardial fibrosis measures associated with outcomes far stronger than other surrogate measures outcome measures such as native T1, post contrast T1 and nonischemic scar on LGE images. These data suggest that ECV is the noninvasive metric of choice to measure myocardial fibrosis. Figure. Kaplan-Meier Plots for T1 mapping parameters.

Published
2016
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89. Oversized or Undersized? Defining the Right-sized Computer Center for Electronic Funds Transfer Processing

Author

ANDRADE, A., JOST, T., and RIGHI, R.

Subjects
Performance, Simulation, EFT, Electronic Funds Tranfer, Resource Usage, Electronic computers. Computer science, QA75.5-76.95
Abstract

Electronic Funds Transfer represents an upward trend, which fosters the proximity among consumers and suppliers. Each transaction is sent to a Computer Center, in charge of decoding, processing and returning the results as fast as possible. Particularly, the present article covers the GetNet Company day-by-day, focusing on one of their subsystems. In the article, we model the incoming transaction volume and the corresponding processing to answer the following questions: (i) how is the idleness of the company transaction system settings and what are the rates involed on that? (ii) Given an annual growth of 20% in the transaction volume, which modifications should be made in the current Computer Center to fulfill the need in terms of transactions until 2020? The tests were based on transactions execution logs during one day, which corresponds to the greater volume of 2011. As expected, the results show that the 10 machines composing GetNet system are overestimated for the current situation, which could support the operational load with only 4 machines. In addition, the current configuration could be sustained, regarding the growth predicted before, until the middle of 2017 without loss of transactions.

Published
2013

90. The planimetric Grothoff's criteria by cardiac magnetic resonance can improve the specificity of left ventricular non-compaction diagnosis in thalassemia intermedia

Author

Alessandra Spiga, Riccardo Righi, Anna Spasiano, Saveria Campisi, Andrea Barison, Alessia Pepe, Giuseppina Novo, Francesca Macaione, Laura Pistoia, Vincenzo Positano, Antonella Meloni, Daniele Di Lisi, Salvatore Novo, and Macaione F, Meloni M, Positano V, Pistoia L, Barison A, Di Lisi D, Spasiano A, Campisi S, Spiga A, Righi R, Novo G, Novo S, Pepe A.

Subjects
Adult, Male, Thalassemia intermedia · Magnetic resonance imaging · Isolated non-compaction of the ventricular myocardium · ventricular remodeling, medicine.medical_specialty, Databases, Factual, Thalassemia, Iron, Diastole, Magnetic Resonance Imaging, Cine, Ventricular Function, Left, Diagnosis, Differential, Young Adult, Predictive Value of Tests, Internal medicine, medicine, Humans, Radiology, Nuclear Medicine and imaging, Ventricular remodeling, Cardiac imaging, Observer Variation, Isolated Noncompaction of the Ventricular Myocardium, medicine.diagnostic_test, Ventricular Remodeling, business.industry, Myocardium, beta-Thalassemia, Reproducibility of Results, Magnetic resonance imaging, Middle Aged, medicine.disease, Fibrosis, medicine.anatomical_structure, Ventricle, Case-Control Studies, Cardiology, Female, Thalassemia intermedia, Cardiology and Cardiovascular Medicine, business, Cardiac magnetic resonance, Cardiomyopathies, Biomarkers
Abstract

We differentiated the left ventricle non-compaction (LVNC) from hypertrabeculated myocardium due to a negative remodeling in thalassemia intermedia (TI) patients applying linear and planimetric criteria and comparing the cardiovascular magnetic resonance (CMR) findings. CMR images were analyzed in 181 TI patients enrolled in the Myocardial Iron Overload in Thalassemia Network and 27 patients with proved LVNC diagnosis. The CMR diagnostic criteria applied in TI patients were: a modified linear CMR Petersen’s criterion based on a more restrictive ratio of diastolic NC/C > 2.5 at segmental level and the combination of planimetric Grothoff’s criteria (percentage of trabeculated LV myocardial mass LV–MM ≥ 25% of global LV mass and total LV–MMI NC ≥ 15 g/m2). Seventeen TI patients showed at least one positive NC/C segment. Compared to LVNC patients, these patients showed a lower frequency of segments with non-compaction areas (2.41 ± 1.33 vs 5.48 ± 2.26; P < 0.0001), significantly lower LV–MM NC percentage (10.99 ± 4.09 vs 28.20 ± 4.27%; P < 0.0001), LV–MMI (7.58 ± 4.86 vs 19.88 ± 5.02 g/m2; P < 0.0001) and extension of macroscopic fibrosis (0.44 ± 0.18 vs 4.65 ± 2.89; P = 0.004), and significantly higher LV ejection fraction (61.29 ± 5.17 vs 48.50 ± 17.55%; P = 0.016) and cardiac index (4.80 ± 1.49 vs 3.46 ± 1.11 l/min/m2; P = 0.002). No TI patient fulfilled the Grothoff’s criteria. All TI patients with an NC/C ratio > 2.5 showed morphological and functional CMR parameters significantly different from the patients with a proved diagnosis of LVNC. Differentiation of LVNC from hypertrabeculated LV in β-TI patients due to a negative heart remodeling depends on the selected CMR criterion. We suggest using planimetric Grothoff’s criteria to improve the specificity of LVNC diagnosis.

Published
2020

95. The p.Gly130Val mutation in the GJB2 gene: A familiar case of autosomal dominant non-syndromic hearing loss

Author

Adelaide Bussini, Emanuela Meroni, Eliana Cristofari, Angelo Genoni, R. Righi, Francesco Broccolo, Chiara Pessina, Paola Granata, Annalisa Meli, Rosario Casalone, Bussini, A, Righi, R, Pessina, C, Genoni, A, Cristofari, E, Meli, A, Granata, P, Meroni, E, Broccolo, F, and Casalone, R

Subjects
Male, Proband, Heterozygote, Hearing loss, Hearing Loss, Sensorineural, Connexin, medicine.disease_cause, Connexins, 03 medical and health sciences, Gjb2 gene, 0302 clinical medicine, 030225 pediatrics, otorhinolaryngologic diseases, medicine, Humans, Child, 030223 otorhinolaryngology, Genetics, Mutation, business.industry, Heterozygote advantage, General Medicine, medicine.disease, Pedigree, Connexin 26, Connexin 26, GJB2, Hearing loss, p.G130V, Skin diseases, Child, Connexin 26, Connexins, Female, Hearing Loss, Sensorineural, Heterozygote, Humans, Male, Mutation, Pedigree, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Female, Sensorineural hearing loss, medicine.symptom, business, Non syndromic
Abstract

Several forms of sensorineural hearing loss (SNHL) have been imputated to connexins mutations and prevalently to connexin 26 (Cx26), codified by the GJB2 gene (gap junction protein, beta 2). Here, we report the first familiar case (heterozygous p. G130V mutation) of non-syndromic (without any dermatological manifestation) dominant profound SNHL. Proband was a 6-years-old male with post-lingual bilateral profound SNHL, clinically identified at the age of 3 with diagnosis of severe SNHL. We confirm that the p. G130V variant of the GJB2 gene is causative of autosomal dominant form of SNHL, although it is not always associated with the presence of skin diseases.

Published
2019
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96. Il paradosso di una religione senza dio. Hans Kelsen antropologo della modernità

Author

Di Lucia, P, Passerini Glazel, L, Lombardi Vallauri, L, Fiorelli, P, Adinolfi, A, Amato, S, Amato Mangiameli, A C, Barberis, M, Bartoli, R, Becchi, P, Bellavista, M, Bernardini, P L, Bianchi, A, Borsellino, P, Cabiddu, M A, Caretti, P, Casavola, F P, Castignone, S, Castrucci, E, Chiassoni, P, Corbetta, S, Corongiu, S, Corsi, C, Cosi, G, Croce, M, D'Agostino, F, De Sanctis, F M, Di Cagno, V, Di Lucia, P, Passerini Glazel, L, Di Mario, A, Diciotti, E, Dilcher, G, Eusebi, L, Faralli, C, Faro, S, Lettieri, N, Fioravanti, M, Flora, G, Foddai, M A, Francavilla, D, Franchini, L, Franza, T, Gaja, G, Galvan, S, Di Florio, C, Gazzolo, T, Ghezzi, M L, Giachery, E, Giachi, C, Grisolia, M C, Guastini, R, Incampo, A, Irti, N, La Torre, M, Lombardi Vallauri, Edoardo, Lombardi Vallauri, Elena, Lombardi Vallauri, M, Lombardi Vallauri, S, Lucarelli, P, Luzzati, C, Mannozzi, G, Mannucci, A, Mantovani, F, Marini, R, Marotta, V, Mazzoni, C M, Meschiari, M, Migliorini, M, Montanari, B, Neumann, U, Onida, P P, Orrù, G, Palavera, R, Palazzani, L, Palazzo, F, Papa, M, Parenti, C, Pastore, B, Perfetti, L R, Rescigno, F, Righi, R, Rodotà, S, Roselli, O, Ruschi, F, Santalucia, B, Savarese, P, Scerbo, A, Scillitani, L, Siciliano, D, Simoni, A, Romoli, F, Stolfi, E, Taddei Elmi, G, Tallacchini, M, Tarantino, A, Trautteur, G, Troje, H E, Trujillo, I, Valastro, A, Vallini, A, Vettori, G, Villa, M L, Viola, F, Zaccaria, G, Zamperetti, G M, Zanotti, L, and Luderssen, K

Subjects
Hans Kelsen, IUS/20 - FILOSOFIA DEL DIRITTO, religione secolare, modern times, modernità, secular religion, M-FIL/06 - STORIA DELLA FILOSOFIA
Abstract

In 2012 an unpublished book by the Austrian legal philosopher Hans Kelsen, Secular Religion, has been posthumously published. This book, written by Kelsen between 1952 and 1964 in the United States, severely criticizes those theories of politics and culture that misinterpret modern social philosophy, science and politics as new religions, mainly adopting the controversial concept of “secular religión.” In the first part of the paper, we reconstruct the genesis of the book and the complex events that led to its final version, and we underline the motives that led Kelsen to write this vehement polemic in defense of the spirit of modernity, and eventually to withdraw it. In the second part of the paper, we investigate some of the main methodological and theoretical contributions that this work, albeit its critical tenor, is able to give to an anthropology of modernity.

Published
2016

97. Hannah Arendt. La persona,l'effettività e la terzietà

Author

ARGIROFFI, Alessandro, Argiroggi, A, Avitabile, L, Bartoli, G, Canansi, D, Palumbo, C, Righi, R, Rivera Llano, A, and Argiroffi, A

Subjects
Settore IUS/20 - Filosofia Del Diritto, persona, terzietà, effettività, crimini nefandi, autodeterminazione
Abstract

La terzietà attiene sia come esser "super partes" il giudice o l'arbitro, sia la persona che come tale intrattiene un rapporto tra sé e sé stesso. Si tratta di una sorta di distacco di distazsiazione che permette di riflettere sull'umanità della persona stessa ed anche quella del prossimo, nel "riconoscimento di hegeliana memoria! Alla base della facoltà del giudizio morale è fondamentale che l'io individuale si possa confrontare e dialogare con sé stesso in modo silente. Così è guadagnata quella libertà-terzietà-distacco ed autenticità proprio nel senso esistenziale della consapevole autodeterminazione della persona matura stessa. Invece, i più efferati e nefandi crimini si realizzano quando, mancando questo intimo rapporto con sé stessi, si agisce "come oltreuomo" alla stregua di Nietzsche.

Published
2014

99. Significance of the clonal and sporadic chromosome abnormalities in non-neoplastic renal tissue

Author

A. Giudici, P. Granata Casalone, D. Donati, E. Minelli, A.V. Bono, E. Meroni, C. Riva, S. Salvatore, P. Portentoso, R. Righi, R. Casalone, Casalone, R, Granata Casalone, P, Minelli, E, Portentoso, P, Righi, R, Meroni, E, Giudici, A, Donati, D, Riva, C, and Salvatore, Stefano

Subjects
Adult, Male, Monosomy, Pathology, medicine.medical_specialty, Aneuploidy, Trisomy, Biology, Kidney, Renal cell carcinoma, Y Chromosome, Genetics, medicine, Carcinoma, Humans, Carcinoma, Renal Cell, Cells, Cultured, Genetics (clinical), Aged, Chromosome Aberrations, Chromosome 7 (human), Epithelioma, Chromosomes, Human, Pair 10, Anatomy, Middle Aged, medicine.disease, Kidney Neoplasms, medicine.anatomical_structure, Chromosomes, Human, Pair 5, Female, Chromosome Deletion, Chromosomes, Human, Pair 18, Chromosomes, Human, Pair 7
Abstract

Trisomy 7, trisomy 10 and loss of the Y chromosome have been found by some authors in presumptive normal parts of human kidneys. We describe cytogenetic findings in short-term cultures from 58 biopsies obtained from non-neoplastic and neoplastic (renal cell carcinoma, RCC) tissues from the same kidney, the same types of tissues from independent kidneys, and tissue from kidneys without neoplasia. The results indicate the following. Non-neoplastic tissue from kidneys involved in RCC have (in mosaics) trisomies 5, 7, 10, 18 and loss of the Y as non-random clonal changes. They are not the result of local metastasis but are also found in kidneys with non-tumoral chronic pathologies and should thus not be considered specific for RCC. They are neither culturing artefacts nor a general phenomenon found in cultured normal solid tissues, but are acquired abnormalities, possibily related to various reactive cellular states in the tissues that are histologically normal.

Published
1992

100. A Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.

Author

Frattini A, Micheloni G, Musio A, Antunes MB, Barbot J, Costa E, Seabra P, Righi R, Orsini F, Montalbano G, Acquati F, Porta G, Pasquali F, and Valli R

Abstract

Mosaic variegated aneuploidy (MVA) is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies, and most patients present with intrauterine growth delay, microcephaly, and a broad spectrum of congenital abnormalities. We report a patient with a distinctive type of MVA discovered in bone marrow (BM) when she was 3-month-old due to neutropenia and hypocellular bone marrow. She was followed up for more than 20 years, and different trisomic cells were repeatedly discovered in different tissues, whereas her clinical picture has never been severe. The main sign remained intermittent neutropenia, not cyclic and often not too severe, occasionally with anemia and thrombocytopenia. Retromicrognathia was the only dysmorphic sign. Unlike other patients with MVA, the trisomies in all tissues involved almost invariably chromosomes 18 and 19. Therefore, the peculiarities of our patient were the clinical and the atypical cytogenetic pictures. Nevertheless, we looked for mutations in the seven causative genes of the known types of MVA, but the results were negative. Then, we analyzed the entire exome to find out other possible causing mutations, but also this attempt failed to discover a possible cause of this distinctive form of MVA., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Published
2024
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