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1. 2016 ACR-EULAR adult dermatomyositis and polymyositis and juvenile dermatomyositis response criteria—methodological aspects

Author: Rider, L. G., Ruperto, N., Pistorio, A., Erman, B., Bayat, N., Lachenbruc, P. A., Rockette, H., Feldman, B. M., Huber, A. M., Hansen, P., Oddis, C. V., Lundberg, I. E., Amato, A. A., Chinoy, H., Cooper, R. G., Chung, L., Danko, K., Fiorentino, D., De la Torre, I. G., Reed, A. M., Song, Y. W., Cimaz, R., Cuttica, R. J., Pilkington, C. A., Martini, A., van der Net, J., Maillard, S., Miller, F. W., Vencovsky, J., Aggarwal, R., Christopher-Stine, L., Criscione-Schreiber, L., Crofford, L., Cronin, M. E., Gordon, P., Hengstman, G., Katz, J. D., Mammen, A., Marder, G., Mchugh, N., Schiopu, E., Wolfe, G., Wortmann, R., Apaz, M., Bowyer, S., Constantin, T., Curran, M., Davidson, J., Griffin, T., Jones, O., Kim, S., Lang, B., Lindsley, C., Lovell, D., Magalhaes, C. S., Pachman, L. M., Ponyi, A., Punaro, M., Quartier, P., Ramanan, A. V., Ravelli, A., Rennebohm, R., Van Royen-Kerkhof, A., Sherry, D. D., Silva, C. A., Stringer, E., Wallace, C., Ascherman, D., Barohn, R., Benveniste, O., De Bleecker, J., Callen, J., Charles-Schoeman, C., Danoff, S., Dastmalchi, M., Dimachkie, M., Di Martino, S., Dourmishev, L., Ernste, F., Gono, T., Isenberg, D., Katsumata, Y., Kissel, J., Leff, R. L., Levine, T., Mann, H., Marie, I., Merola, J., Olesinska, M., Olsen, N., Pipitone, N., Ramchandren, S., Rutkove, S., Saketkoo, L. A., Schiffenbauer, A., Selva-O'Callaghan, A., Shinjo, S. K., Shupak, R., Swierkocka, K., de Visser, M., Wanschitz, J., Werth, V. P., Whitt, I., Ytterberg, S., Avcin, T., Becker, M., Beresford, M. W., Dressler, F., Dvergsten, J., Ferriani, V. P. L., Flato, B., Gerloni, V., Henrickson, M., Hinze, C., Hoeltzel, M., BUNES IBARRA, MIGUEL ANGEL, Ilowite, N., Imundo, L., Kingsbury, D., Magnusson, B., Maguiness, S., Mathiesen, P., Mccann, L., Nielsen, S., de Oliveira, S. K. F., Passo, M., Rabinovich, E., Rivas-Chacon, R., Robinson, A. B., Rouster-Stevens, K., Russo, R., Rutkowska-Sak, L., Sallum, A., Sanner, H., Schmeling, H., Selcen, D., Shaham, B., Spencer, C. H., Sundel, R., Tardieu, M., Thatayatikom, A., Wahezi, D., and Zulian, F.
Subjects: medicine.medical_specialty, dermatomyositis, Hybrid measure, 1000Minds software, Minimal Clinically Important Difference, response criteria, Klinikai orvostudományok, Logistic regression, Polymyositis, Dermatomyositis, polymyositis, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Response criteria, medicine, Humans, Pharmacology (medical), Conjoint analysis, outcome assessment, Juvenile dermatomyositis, Myositis, 030203 arthritis & rheumatology, hybrid measure, juvenile dermatomyositis, business.industry, Minimal clinically important difference, Outcome assessment, Area Under Curve, Logistic Models, Treatment Outcome, Orvostudományok, Clinical Science, medicine.disease, Adult dermatomyositis, Clinical trial, Physical therapy, conjoint analysis, business, 030217 neurology & neurosurgery
Abstract: Objective: The objective was to describe the methodology used to develop new response criteria for adult DM/PM and JDM.Methods: Patient profiles from prospective natural history data and clinical trials were rated by myositis specialists to develop consensus gold-standard ratings of minimal, moderate and major improvement. Experts completed a survey regarding clinically meaningful improvement in the core set measures (CSM) and a conjoint-analysis survey (using 1000Minds software) to derive relative weights of CSM and candidate definitions. Six types of candidate definitions for response criteria were derived using survey results, logistic regression, conjoint analysis, application of conjoint-analysis weights to CSM and published definitions. Sensitivity, specificity and area under the curve were defined for candidate criteria using consensus patient profile data, and selected definitions were validated using clinical trial data.Results: Myositis specialists defined the degree of clinically meaningful improvement in CSM for minimal, moderate and major improvement. The conjoint-analysis survey established the relative weights of CSM, with muscle strength and Physician Global Activity as most important. Many candidate definitions showed excellent sensitivity, specificity and area under the curve in the consensus profiles. Trial validation showed that a number of candidate criteria differentiated between treatment groups. Top candidate criteria definitions were presented at the consensus conference.Conclusion: Consensus methodology, with definitions tested on patient profiles and validated using clinical trials, led to 18 definitions for adult PM/DM and 14 for JDM as excellent candidates for consideration in the final consensus on new response criteria for myositis.
Published: 2017
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2. Fecal Microbiota Transplant in Two Ulcerative Colitis Pediatric Cases: Gut Microbiota and Clinical Course Correlations

Author: Quagliariello, A., Del Chierico, F., Reddel, S., Russo, A., Muda, A. O., D'Argenio, P., Angelino, G., Romeo, E. F., Dall'Oglio, L., De Angelis, P., Putignani, L., Bernaschi, P., Faraci, S., Finocchi, A., Foglietta, G., Gargiullo, L., Martino, S., Marucci, G., Merli, P., Pane, S., Rea, F., Torre, G., Torroni, F., and Nobili, V.
Subjects: 0301 basic medicine, Microbiology (medical), medicine.medical_specialty, Gut flora, Microbiology, Gastroenterology, Inflammatory bowel disease, 03 medical and health sciences, 0302 clinical medicine, Collinsella aerofaciens, Virology, Internal medicine, Fecal microbiota transplantation (FMT), Gut bacterial ecology, Gut microbiota, Inflammatory bowel disease (IBD), Pediatric Ulcerative Colitis (UC), Medicine, lcsh:QH301-705.5, gut microbiota, biology, fecal microbiota transplantation (FMT), business.industry, Brief Report, Clinical course, Fecal bacteriotherapy, biology.organism_classification, medicine.disease, Parabacteroides, Ulcerative colitis, inflammatory bowel disease (IBD), 030104 developmental biology, lcsh:Biology (General), 030211 gastroenterology & hepatology, Bacteroides, business, gut bacterial ecology
Abstract: Fecal microbiota transplantation (FMT) is a promising strategy in the management of inflammatory bowel disease (IBD). The clinical effects of this practice are still largely unknown and unpredictable. In this study, two children affected by mild and moderate ulcerative colitis (UC), were pre- and post-FMT monitored for clinical conditions and gut bacterial ecology. Microbiota profiling relied on receipts’ time-point profiles, donors and control cohorts’ baseline descriptions. After FMT, the improvement of clinical conditions was recorded for both patients. After 12 months, the mild UC patient was in clinical remission, while the moderate UC patient, after 12 weeks, had a clinical worsening. Ecological analyses highlighted an increase in microbiota richness and phylogenetic distance after FMT. This increase was mainly due to Collinsella aerofaciens and Eubacterium biforme, inherited by respective donors. Moreover, a decrease of Proteus and Blautia producta, and the increment of Parabacteroides, Mogibacteriaceae, Bacteroides eggerthi, Bacteroides plebeius, Ruminococcus bromii, and BBacteroidesovatus were associated with remission of the patient’s condition. FMT results in a long-term response in mild UC, while in the moderate form there is probably need for multiple FMT administrations. FMT leads to a decrease in potential pathogens and an increase in microorganisms correlated to remission status.
Published: 2020
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3. Tailoring Adjuvant Endocrine Therapy for Premenopausal Breast Cancer

Author: Francis, P.A., Pagani, O., Fleming, G.F., Walley, B.A., Colleoni, M., Lang, I., Gomez, H.L., Tondini, C., Ciruelos, E., Burstein, H.J., Bonnefoi, H.R., Bellet, M., Martino, S., Geyer, C.E., Goetz, M.P., Stearns, V., Pinotti, G., Puglisi, F., Spazzapan, S., Climent, M.A., Pavesi, L., Ruhstaller, T., Davidson, N.E., Coleman, R., Debled, M., Buchholz, S., Ingle, J.N., Winer, E.P., Maibach, R., Rabaglio-Poretti, M., Ruepp, B., Leo, A. di, Coates, A.S., Gelber, R.D., Goldhirsch, A., Regan, M.M., SOFT TEXT Investigators Grp, and Int Breast Canc Study Grp
Subjects: 0301 basic medicine, Oncology, endocrine system diseases, Receptor, ErbB-2, medicine.medical_treatment, Kaplan-Meier Estimate, law.invention, chemistry.chemical_compound, 0302 clinical medicine, Exemestane, Randomized controlled trial, law, Medicine, skin and connective tissue diseases, 610 Medicine & health, Aromatase Inhibitors, Medicine (all), General Medicine, Middle Aged, female genital diseases and pregnancy complications, Chemotherapy, Adjuvant, 030220 oncology & carcinogenesis, Female, hormones, hormone substitutes, and hormone antagonists, medicine.drug, Adult, endocrine system, medicine.medical_specialty, Randomization, Antineoplastic Agents, Hormonal, medicine.drug_class, Breast Neoplasms, Disease-Free Survival, Article, Young Adult, 03 medical and health sciences, Breast cancer, Internal medicine, Humans, Survival rate, Chemotherapy, Aromatase inhibitor, business.industry, medicine.disease, Androstadienes, Tamoxifen, 030104 developmental biology, Premenopause, chemistry, Neoplasm Recurrence, Local, business, Follow-Up Studies
Abstract: In the Suppression of Ovarian Function Trial (SOFT) and the Tamoxifen and Exemestane Trial (TEXT), the 5-year rates of recurrence of breast cancer were significantly lower among premenopausal women who received the aromatase inhibitor exemestane plus ovarian suppression than among those who received tamoxifen plus ovarian suppression. The addition of ovarian suppression to tamoxifen did not result in significantly lower recurrence rates than those with tamoxifen alone. Here, we report the updated results from the two trials.Premenopausal women were randomly assigned to receive 5 years of tamoxifen, tamoxifen plus ovarian suppression, or exemestane plus ovarian suppression in SOFT and to receive tamoxifen plus ovarian suppression or exemestane plus ovarian suppression in TEXT. Randomization was stratified according to the receipt of chemotherapy.In SOFT, the 8-year disease-free survival rate was 78.9% with tamoxifen alone, 83.2% with tamoxifen plus ovarian suppression, and 85.9% with exemestane plus ovarian suppression (P=0.009 for tamoxifen alone vs. tamoxifen plus ovarian suppression). The 8-year rate of overall survival was 91.5% with tamoxifen alone, 93.3% with tamoxifen plus ovarian suppression, and 92.1% with exemestane plus ovarian suppression (P=0.01 for tamoxifen alone vs. tamoxifen plus ovarian suppression); among the women who remained premenopausal after chemotherapy, the rates were 85.1%, 89.4%, and 87.2%, respectively. Among the women with cancers that were negative for HER2 who received chemotherapy, the 8-year rate of distant recurrence with exemestane plus ovarian suppression was lower than the rate with tamoxifen plus ovarian suppression (by 7.0 percentage points in SOFT and by 5.0 percentage points in TEXT). Grade 3 or higher adverse events were reported in 24.6% of the tamoxifen-alone group, 31.0% of the tamoxifen-ovarian suppression group, and 32.3% of the exemestane-ovarian suppression group.Among premenopausal women with breast cancer, the addition of ovarian suppression to tamoxifen resulted in significantly higher 8-year rates of both disease-free and overall survival than tamoxifen alone. The use of exemestane plus ovarian suppression resulted in even higher rates of freedom from recurrence. The frequency of adverse events was higher in the two groups that received ovarian suppression than in the tamoxifen-alone group. (Funded by Pfizer and others; SOFT and TEXT ClinicalTrials.gov numbers, NCT00066690 and NCT00066703 , respectively.).
Published: 2018

4. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

Author: Barzaghi, F., Hernandez, L.C.A., Neven, B., Ricci, S., Kucuk, Z.Y., Bleesing, J.J., Nademi, Z., Slatter, M.A., Ulloa, E.R., Shcherbina, A., Roppelt, A., Worth, A., Silva, J., Aiuti, A., Murguia-Favela, L., Speckmann, C., Carneiro-Sampaio, M., Fernandes, J.F., Baris, S., Ozen, A., Karakoc-Aydiner, E., Kiykim, A., Schulz, A., Steinmann, S., Notarangelo, L.D., Gambineri, E., Lionetti, P., Shearer, W.T., Forbes, L.R., Martinez, C., Moshous, D., Blanche, S., Fisher, A., Ruemmele, F.M., Tissandier, C., Ouachee-Chardin, M., Rieux-Laucat, F., Cavazzana, M., Qasim, W., Lucarelli, B., Albert, M.H., Kobayashi, I., Alonso, L., Heredia, C.D. de, Kanegane, H., Lawitschka, A., Seo, J.J., Gonzalez-Vicent, M., Diaz, M.A., Goyal, R.K., Sauer, M.G., Yesilipek, A., Kim, M., Yilmaz-Demirdag, Y., Bhatia, M., Khlevner, J., Padilla, E.J.R., Martino, S., Montin, D., Neth, O., Molinos-Quintana, A., Valverde-Fernandez, J., Broides, A., Pinsk, V., Ballauf, A., Haerynck, F., Bordon, V., Dhooge, C., Garcia-Lloret, M.L., Bredius, R.G., Kawak, K., Haddad, E., Seidel, M.G., Duckers, G., Pai, S.Y., Dvorak, C.C., Ehl, S., Locatelli, F., Goldman, F., Gennery, A.R., Cowan, M.J., Roncarolo, M.G., Bacchetta, R., PIDTC, IEWP, European Soc Blood Marrow, Barzaghi, Federica, Hernandez, Laura Cristina Amaya, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J., Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R., Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M., Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frederic, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H., Kobayashi, Ichiro, Alonso, Laura, De Heredia, Cristina Diaz, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G., Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Padilla, Erick J. Richmond, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G., Kalwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C., Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J., Roncarolo, Maria-Grazia, Bacchetta, Rosa, Amaya Hernandez, Laura Cristina, Murguia-Favela, Lui, Shearer, William Thoma, Rieux-Laucat, Frédéric, Diaz De Heredia, Cristina, Richmond Padilla, Erick J., and Kałwak, Krzysztof
Subjects: 0301 basic medicine, Male, Allergy, medicine.medical_treatment, Medizin, Disease, Hematopoietic stem cell transplantation, SIROLIMUS, Regenerative Medicine, primary immune deficiency, Medicine and Health Sciences, IPEX, Immunology and Allergy, 2.1 Biological and endogenous factors, Enteropathy, Aetiology, POLYENDOCRINOPATHY, Child, Pediatric, CÉLULAS-TRONCO, immunosuppression, Hematopoietic Stem Cell Transplantation, Genetic Diseases, X-Linked, Immunosuppression, Forkhead Transcription Factors, X-LINKED SYNDROME, Allografts, Survival Rate, surgical procedures, operative, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Immune System Diseases, Genetic Diseases, Child, Preschool, hematopoietic stem cell transplantation, Female, hematopoietic stem, neonatal diabetes, FOXP3, Primary Immune Deficiency, Treg cells, enteropathy, genetic autoimmunity, rapamycin, Type 1, Diarrhea, Adult, medicine.medical_specialty, Adolescent, Immunology, Neonatal onset, Article, Disease-Free Survival, 03 medical and health sciences, Neonatal diabete, Clinical Research, Internal medicine, IMMUNODYSREGULATION, medicine, Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Diabetes Mellitus, Genetics, Humans, REGULATORY T-CELLS, cell transplantation, Preschool, Retrospective Studies, Immunosuppression Therapy, Transplantation, IMMUNE DYSREGULATION, business.industry, MUTATIONS, Infant, Retrospective cohort study, STEM-CELL TRANSPLANTATION, IPEX syndrome, X-Linked, medicine.disease, Stem Cell Research, BONE-MARROW-TRANSPLANTATION, Treg cell, FOXP3 MUTATIONS, Diabetes Mellitus, Type 1, 030104 developmental biology, ENGRAFTMENT, Mutation, business, Follow-Up Studies
Abstract: Background Immunodysregulation polyendocrinopathy enteropathy x-linked(IPEX) syndromeis a monogenic autoimmune disease caused by FOXP3 mutations. Because it is a rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) and immunosuppression (IS), have not been thoroughly examined. Objective This analysis sought to evaluate disease onset, progression, and long-term outcome of the 2 main treatments in long-term IPEX survivors. Methods Clinical histories of 96 patients with a genetically proven IPEX syndrome were collected from 38 institutions worldwide and retrospectively analyzed. To investigate possible factors suitable to predict the outcome, an organ involvement (OI) scoring system was developed. Results We confirm neonatal onset with enteropathy, type 1 diabetes, and eczema. In addition, we found less common manifestations in delayed onset patients or during disease evolution. There is no correlation between the site of mutation and the disease course or outcome, and the same genotype can present with variable phenotypes. HSCT patients (n = 58) had a median follow-up of 2.7 years (range, 1 week-15 years). Patients receiving chronic IS (n = 34) had a median follow-up of 4 years (range, 2 months-25 years). The overall survival after HSCT was 73.2% (95% CI, 59.4-83.0) and after IS was 65.1% (95% CI, 62.8-95.8). The pretreatment OI score was the only significant predictor of overall survival after transplant (P = .035) but not under IS. Conclusions Patients receiving chronic IS were hampered by disease recurrence or complications, impacting long-term disease-free survival. When performed in patients with a low OI score, HSCT resulted in disease resolution with better quality of life, independent of age, donor source, or conditioning regimen., GRAPHICAL ABSTRACT
Published: 2018

5. Knowledge and attitudes of adult HIV positive patients to HIV/AIDS in Yola, Nigeria

Author: Rios-Zertuche D, Lamere C, Subramanian L, Golandaj Ja, Selin A, Blanco Lc, Krishnamurthy J, Mokdad Ah, Lee H, Kahn K, Heise L, Ranganathan M, Hess S, Jennings L, Sidle Je, Xavier Gomez-Olive F, Salawu Fk, Hallad Js, Margoluis C, Honzak C, Keter Ak, Bietsch K, Ritchwood Td, Laeyendecker O, Klein Da, Kudrati M, Papas Rk, Hamilton E, Martino S, Kar A, Ramesh Bm, Gomez-Olive Fx, Iliyasu Z, Othman N, Colombara Dv, MacPhail C, Sidik Sm, Baliddawa Jb, Kiarie Sw, Rampal L, Naik R, Hale C, Watts C, Patterson Kp, Zuniga-Brenes P, Hughes Jp, Maisto Sa, Hughes J, Munn-Sann L, Iriarte E, Mwaniki Mm, Martins Of, Delany-Moretlwe S, Gakinya Bn, Loxley Mp, Silverwood Rj, Palmisano Eb, Oyekale As, Magige H, Piwowar-Manning E, Pettifor A, and Leisher C
Subjects: medicine.medical_specialty, education.field_of_study, Poverty, business.industry, Public health, Population, Obstetric transition, Health facility, Environmental health, Health care, medicine, Rural area, business, education, Reproductive health
Abstract: Skilled attendance at birth is widely recognized as a single most effective strategy for reducing maternal mortality and morbidity and this is being used as an indicator to measure progress toward the fifth Millennium Development Goal of improving maternal health (MDG 5). However around half of the deliveries in the developing world are not attended by skilled professionals. The situation is worse in some regions such as South Asia where only less than one-third of deliveries are attended by skilled professionals. Safe motherhood still remains a distant dream for many around the world especially in developing countries leading to most of the maternal deaths in poor countries suggesting that most of these can be attributed to low level of supply and utilization of skilled maternal health services. Research studies have documented a range of social economic and geographic factors that act as barriers to low use of skilled maternity care during childbirth around the world. As far as India is concerned maternal education economic status of household caste and religion; availability of and accessibility to a health facility presence of a lady medical doctor availability of drugs; community attributes and programme-related factors play a critical role in the utilization of facility-based maternity care. Though costs - both direct and indirect-have also been shown to be an important barrier to womens use of facility-based maternity care there are a limited number of studies that have explored the issue in detail at regional level unlike at national level. India has avoided significant maternal and neonatal deaths in j:he last two decades. The Maternal Mortality Ratio (MMR) has declined from 398 (per 100 000 live births) in 1997-98 to 212 in 2007-09 and the neonatal mortality has declined from 45 (per 1000 live births) to 34 during the same period. Despite this recent achievement India still is one of the countries having high MMR in the world accounting for 19 percent of maternal deaths worldwide. Findings of a study report on MDGs progress in Bangladesh suggest that utilization of maternal health care is less in rural and poorest household as compared to their counterpart. Unlike developed countries in India more than 70 percent of the health care expenditure is paid by individuals and the government bears only 20 percent the rest is from businesses and external flows. In many situations health care expenditure which also includes maternal and neonatal care is catastrophic; this in tum can push the households into poverty. Especially rural households the less educated slum dwellers and poor households because these households in India are more likely to finance health care through borrowing and sale of assets than well off population groups. The District Level Household Survey DLHS4 has pointed out that at the public health facilities on an average a household has to spend INR 3130 for each delivery and it is INR 3000 in rural areas of Karnataka. Hence in this background using information from a baseline survey the present article aims to examine household expenses incurred for availing maternal healthcare services by rural women in North Kamataka.
Published: 2015
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6. 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

7. 20-year risks of breast-cancer recurrence after stopping endocrine therapy at 5 years

Author: Pan, H, Gray, R, Braybrooke, J, Davies, C, Taylor, C, Mcgale, P, Peto, R, Pritchard, Ki, Bergh, J, Dowsett, M, Hayes, Df, Albain, K, Anderson, S, Arriagada, R, Barlow, W, Bartlett, J, Bergsten‐nordström, E, Bliss, J, Boccardo, F, Bradley, R, Brain, E, Cameron, D, Clarke, M, Coates, A, Coleman, R, Correa, C, Costantino, J, Cuzick, J, Davidson, N, Dodwell, D, Di Leo, A, Ewertz, M, Forbes, J, Gelber, R, Gnant, M, Goldhirsch, A, Goodwin, P, Hill, C, Ingle, J, Jagsi, R, Janni, W, Loibl, S, Mackinnon, E, Martin, M, Mukai, H, Norton, L, Ohashi, Y, Paik, S, Perez, E, Piccart, M, Pierce, L, Poortmans, P, Raina, V, Ravdin, P, Regan, M, Robertson, J, Rutgers, E, Slamon, D, Sparano, J, Swain, S, Tutt, A, Viale, G, Von Minckwitz, G, Wang, X, Whelan, T, Wilcken, N, Winer, E, Wolmark, N, Wood, W, Zambetti, M, Alberro, Ja, Ballester, B, Deulofeu, P, Fábregas, R, Fraile, M, Gubern, Jm, Janer, J, Moral, A, De Pablo Jl, Peñalva, G, Puig, P, Ramos, M, Rojo, R, Santesteban, P, Serra, C, Solà, M, Solarnau, L, Solsona, J, Veloso, E, Vidal, S, Abe, O, Abe, R, Enomoto, K, Kikuchi, K, Koyama, H, Masuda, H, Nomura, Y, Sakai, K, Sugimachi, K, Toi, M, Tominaga, T, Uchino, J, Yoshida, M, Haybittle, Jl, Leonard, Cf, Calais, G, Garaud, P, Collett, V, Delmestri, A, Sayer, J, Harvey, Vj, Holdaway, Im, Kay, Rg, Mason, Bh, Forbes, Jf, Balic, M, Bartsch, R, Fesl, C, Fitzal, F, Fohler, H, Greil, R, Jakesz, R, Marth, C, Mlineritsch, B, Pfeiler, G, Singer, Cf, Steger, Gg, Stöger, H, Canney, P, Yosef, Hma, Focan, C, Peek, U, Oates, Gd, Powell, J, Durand, M, Mauriac, L, Dolci, S, Larsimont, D, Nogaret, Jm, Philippson, C, Piccart, Mj, Masood, Mb, Parker, D, Price, Jj, Lindsay, Ma, Mackey, J, Hupperets, Psgj, Bates, T, Blamey, Rw, Chetty, U, Ellis, Io, Mallon, E, Morgan, Dal, Patnick, J, Pinder, S, Lohrisch, C, Nichol, A, Bramwell, Vh, Chen, Be, Gelmon, K, Goss, Pe, Levine, Mn, Parulekar, W, Pater, Jl, Shepherd, Le, Tu, D, Berry, D, Broadwater, G, Cirrincione, C, Muss, H, Weiss, Rb, Abu‐zahra, Ht, Portnoj, Sm, Bowden, S, Brookes, C, Dunn, J, Fernando, I, Lee, M, Poole, C, Rea, D, Spooner, D, Barrett‐lee, Pj, Mansel, Re, Monypenny, Ij, Gordon, Nh, Davis, Hl, Sestak, I, Lehingue, Y, Romestaing, P, Dubois, Jb, Delozier, T, Griffon, B, Mace Lesec’h, J, De La Lande, B, Mouret‐fourme, E, Mustacchi, G, Petruzelka, L, Pribylova, O, Owen, Jr, Harbeck, N, Jänicke, F, Meisner, C, Schmitt, M, Thomssen, C, Meier, P, Shan, Y, Shao, Yf, Zhao, Db, Chen, Zm, Howell, A, Swindell, R, Boddington, C, Burrett, Ja, Cutter, D, Duane, F, Evans, V, Gettins, L, Godwin, J, James, S, Kerr, A, Liu, H, Mannu, G, Mchugh, T, Morris, P, Read, S, Wang, Y, Wang, Z, Albano, J, De Oliveira Cf, Gervásio, H, Gordilho, J, Ejlertsen, B, Jensen, Mb, Johansen, H, Mouridsen, H, Palshof, T, Gelman, Rs, Harris, Jr, Henderson, C, Shapiro, Cl, Christiansen, P, Mouridsen, Ht, Fehm, T, Trampisch, Hj, Dalesio, O, De Vries Ege, Rodenhuis, S, Van Tinteren, H, Comis, Rl, Davidson, Ne, Robert, N, Sledge, G, Solin, Lj, Sparano, Ja, Tormey, Dc, Dixon, Jm, Forrest, P, Jack, W, Kunkler, I, Rossbach, J, Klijn, Jgm, Treurniet‐donker, Ad, Van Putten Wlj, Rotmensz, N, Veronesi, U, Bartelink, H, Bijker, N, Bogaerts, J, Cardoso, F, Cufer, T, Julien, Jp, Van De Velde Cjh, Cunningham, Mp, Brufsky, Am, Coleman, Re, Llombart, Ha, Huovinen, R, Joensuu, H, Costa, A, Bonadonna, G, Gianni, L, Valagussa, P, Goldstein, Lj, Bonneterre, J, Fargeot, P, Fumoleau, P, Kerbrat, P, Luporsi, E, Namer, M, Carrasco, E, Segui, Ma, Eiermann, W, Hilfrich, J, Jonat, W, Kaufmann, M, Kreienberg, R, Schumacher, M, Bastert, G, Rauschecker, H, Sauer, R, Sauerbrei, W, Schauer, A, Blohmer, Ju, Costa, Sd, Eidtmann, H, Gerber, B, Jackisch, C, De Schryver, A, Vakaet, L, Belfiglio, M, Nicolucci, A, Pellegrini, F, Pirozzoli, Mc, Sacco, M, Valentini, M, Mcardle, Cs, Smith, Dc, Stallard, S, Dent, Dm, Gudgeon, Ca, Hacking, A, Murray, E, Panieri, E, Werner, Id, Galligioni, E, Leone, B, Vallejo, Ct, Zwenger, A, Lopez, M, Erazo, A, Medina, Jy, Horiguchi, J, Takei, H, Fentiman, Is, Hayward, Jl, Rubens, Rd, Skilton, D, Scheurlen, H, Sohn, Hc, Untch, M, Dafni, U, Markopoulos, C, Fountzilas, G, Mavroudis, D, Klefstrom, P, Blomqvist, C, Saarto, T, Gallen, M, Tinterri, C, Margreiter, R, De Lafontan, B, Mihura, J, Roché, H, Asselain, B, Salmon, Rj, Vilcoq, Jr, André, F, Delaloge, S, Koscielny, S, Michiels, S, Rubino, C, A'Hern, R, Ellis, P, Kilburn, L, Yarnold, Jr, Benraadt, J, Kooi, M, Van De Velde Ao, Van Dongen Ja, Vermorken, Jb, Castiglione, M, Colleoni, M, Collins, J, Gelber, Rd, Lindtner, J, Price, Kn, Regan, Mm, Rudenstam, Cm, Senn, Hj, Thuerlimann, B, Bliss, Jm, Chilvers, Ced, Coombes, Rc, Hall, E, Marty, M, Buyse, M, Possinger, K, Schmid, P, Wallwiener, D, Bighin, C, Bruzzi, P, Del Mastro, L, Dozin, B, Pastorino, S, Pronzato, P, Sertoli, Mr, Foster, L, George, Wd, Stewart, Hj, Stroner, P, Borovik, R, Hayat, H, Inbar, Mj, Peretz, T, Robinson, E, Camerini, T, Formelli, F, Martelli, G, Di Mauro Mg, Perrone, F, Amadori, D, Martoni, A, Pannuti, F, Camisa, R, Musolino, A, Passalacqua, R, Iwata, H, Shien, T, Ikeda, T, Inokuchi, K, Sawa, K, Sonoo, H, Sadoon, M, Tulusan, Ah, Kohno, N, Miyashita, M, Takao, S, Ahn, Jh, Jung, Kh, Korzeniowski, S, Skolyszewski, J, Ogawa, M, Yamashita, J, Bastiaannet, E, Liefers, Gj, Christiaens, R, Neven, P, Paridaens, R, Van Den Bogaert, W, Braun, S, Martin, P, Romain, S, Janauer, M, Seifert, M, Sevelda, P, Zielinski, Cc, Hakes, T, Hudis, Ca, Wittes, R, Giokas, G, Kondylis, D, Lissaios, B, De La Huerta, R, Sainz, Mg, Ro, J, Camphausen, K, Danforth, D, Lichter, A, Lippman, M, Smart, D, Steinberg, S, D’Amico, C, Lioce, M, Paradiso, A, Ohno, S, Bass, G, Brown, A, Bryant, J, Dignam, J, Fisher, B, Geyer, C, Mamounas, Ep, Redmond, C, Wickerham, L, Aihara, T, Hozumi, Y, Baum, M, Jackson, Im, Palmer, Mk, Ingle, Jn, Suman, Vj, Bengtsson, No, Emdin, S, Jonsson, H, Venturini, M, Lythgoe, Jp, Kissin, M, Erikstein, B, Hannisdal, E, Jacobsen, Ab, Reinertsen, Kv, Varhaug, Je, Gundersen, S, Hauer‐jensen, M, Høst, H, Nissen‐meyer, R, Mitchell, Ak, Robertson, Jfr, Ueo, H, Di Palma, M, Mathé, G, Misset, Jl, Levine, M, Morimoto, K, Takatsuka, Y, Crossley, E, Harris, A, Talbot, D, Taylor, M, Cocconi, G, Di Blasio, B, Ivanov, V, Paltuev, R, Semiglazov, V, Brockschmidt, J, Cooper, Mr, Falkson, Ci, Hadji, P, A’Hern, R, Makris, A, Parton, M, Pennert, K, Powles, Tj, Smith, Ie, Gazet, Jc, Browne, L, Graham, P, Corcoran, N, Clack, G, Van Poznak, C, Deshpande, N, Di Martino, L, Douglas, P, Lindtner, A, Notter, G, Bryant, Ajs, Ewing, Gh, Firth, La, Krushen‐kosloski, Jl, Anderson, H, Killander, F, Malmström, P, Rydén, L, Arnesson, Lg, Carstensen, J, Dufmats, M, Fohlin, H, Nordenskjöld, B, Söderberg, M, Carpenter, Jt, Murray, N, Royle, Gt, Simmonds, Pd, Crowley, J, Gralow, J, Hortobagyi, G, Livingston, R, Martino, S, Osborne, Ck, Ravdin, Pm, Bondesson, T, Celebioglu, F, Dahlberg, K, Fornander, T, Fredriksson, I, Frisell, J, Göransson, E, Iiristo, M, Johansson, U, Lenner, E, Löfgren, L, Nikolaidis, P, Perbeck, L, Rotstein, S, Sandelin, K, Skoog, L, Svane, G, Af Trampe, E, Wadström, C, Maibach, R, Thürlimann, B, Holli, K, Rouhento, K, Safra, T, Brenner, H, Hercbergs, A, Yoshimoto, M, Paterson, Ahg, Fyles, A, Meakin, Jw, Panzarella, T, Bahi, J, Lemonnier, J, Martin, Al, Reid, M, Spittle, M, Bishop, H, Bundred, Nj, Forsyth, S, Pinder, Se, Deutsch, Gp, Kwong, Dlw, Pai, Vr, Senanayake, F, Rubagotti, A, Hackshaw, A, Houghton, J, Ledermann, J, Monson, K, Tobias, Js, Carlomagno, C, De Laurentiis, M, De Placido, S, Williams, L, Bell, R, Hinsley, S, Marshall, Hc, Pierce, Lj, Solomayer, E, Horsman, Jm, Lester, J, Winter, Mc, Buzdar, Au, Hsu, L, Love, Rr, Ahlgren, J, Garmo, H, Holmberg, L, Liljegren, G, Lindman, H, Wärnberg, F, Asmar, L, Jones, Se, Aft, R, Gluz, O, Liedtke, C, Nitz, U, Litton, A, Wallgren, A, Karlsson, P, Linderholm, Bk, Chlebowski, Rt, Caffier, H., Guided Treatment in Optimal Selected Cancer Patients (GUTS), Other departments, CCA - Cancer Treatment and Quality of Life, Radiotherapy, Pan, Hongchao, Gray, Richard, Braybrooke, Jeremy, Davies, Christina, Taylor, Carolyn, Mcgale, Paul, Peto, Richard, Pritchard, Kathleen I, Bergh, Jona, Dowsett, Mitch, Hayes, Daniel F, De Laurentiis, Michelino, MUMC+: MA Medische Oncologie (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, and Interne Geneeskunde
Subjects: 0301 basic medicine, Oncology, medicine.medical_treatment, Kaplan-Meier Estimate, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Recurrence, Receptors, Neoplasm Metastasis, AMERICAN SOCIETY, Adjuvant, CLINICAL-PRACTICE GUIDELINE, Absolute risk reduction, Estrogen Antagonists, General Medicine, Estrogen Antagonist, CHEMOTHERAPY, Middle Aged, Prognosis, Neoplasm Metastasi, Local, POSTMENOPAUSAL WOMEN, Receptors, Estrogen, Chemotherapy, Adjuvant, 030220 oncology & carcinogenesis, Meta-analysis, Lymphatic Metastasis, Female, Human, Estrogen Antagonists/therapeutic use, Adult, Risk, medicine.medical_specialty, Prognosi, medicine.drug_class, DISCONTINUATION, Breast Neoplasms, Article, Drug Administration Schedule, LATE DISTANT RECURRENCE, 03 medical and health sciences, Breast cancer, Breast Neoplasms/drug therapy, Internal medicine, SCORE, medicine, Humans, SURGICAL ADJUVANT BREAST, Aged, Proportional Hazards Models, Chemotherapy, business.industry, Proportional hazards model, Lymphatic Metastasi, TAMOXIFEN THERAPY, ta3122, medicine.disease, Estrogen, RANDOMIZED-TRIALS, Discontinuation, Surgery, Neoplasm Recurrence, 030104 developmental biology, Proportional Hazards Model, Neoplasm Grading, Neoplasm Recurrence, Local, business
Abstract: Background The administration of endocrine therapy for 5 years substantially reduces recurrence rates during and after treatment in women with early-stage, estrogen-receptor (ER)–positive breast cancer. Extending such therapy beyond 5 years offers further protection but has additional side effects. Obtaining data on the absolute risk of subsequent distant recurrence if therapy stops at 5 years could help determine whether to extend treatment. Methods In this meta-analysis of the results of 88 trials involving 62,923 women with ER-positive breast cancer who were disease-free after 5 years of scheduled endocrine therapy, we used Kaplan–Meier and Cox regression analyses, stratified according to trial and treatment, to assess the associations of tumor diameter and nodal status (TN), tumor grade, and other factors with patients’ outcomes during the period from 5 to 20 years. Results Breast-cancer recurrences occurred at a steady rate throughout the study period from 5 to 20 years. The risk of distant recurrence was strongly correlated with the original TN status. Among the patients with stage T1 disease, the risk of distant recurrence was 13% with no nodal involvement (T1N0), 20% with one to three nodes involved (T1N1–3), and 34% with four to nine nodes involved (T1N4–9); among those with stage T2 disease, the risks were 19% with T2N0, 26% with T2N1–3, and 41% with T2N4–9. The risk of death from breast cancer was similarly dependent on TN status, but the risk of contralateral breast cancer was not. Given the TN status, the factors of tumor grade (available in 43,590 patients) and Ki-67 status (available in 7692 patients), which are strongly correlated with each other, were of only moderate independent predictive value for distant recurrence, but the status regarding the progesterone receptor (in 54,115 patients) and human epidermal growth factor receptor type 2 (HER2) (in 15,418 patients in trials with no use of trastuzumab) was not predictive. During the study period from 5 to 20 years, the absolute risk of distant recurrence among patients with T1N0 breast cancer was 10% for low-grade disease, 13% for moderate-grade disease, and 17% for high-grade disease; the corresponding risks of any recurrence or a contralateral breast cancer were 17%, 22%, and 26%, respectively. Conclusions After 5 years of adjuvant endocrine therapy, breast-cancer recurrences continued to occur steadily throughout the study period from 5 to 20 years. The risk of distant recurrence was strongly correlated with the original TN status, with risks ranging from 10 to 41%, depending on TN status and tumor grade. (Funded by Cancer Research UK and others.)
Published: 2017

8. Long-term outcomes for neoadjuvant versus adjuvant chemotherapy in early breast cancer: meta-analysis of individual patient data from ten randomised trials

Author: Alberro, JA, Ballester, B, Deulofeu, P, Fabregas, R, Fraile, M, Gubern, JM, Janer, J, Moral, A, de Pablo, JL, Penalva, G, Puig, P, Ramos, M, Rojo, R, Santesteban, P, Serra, C, Sola, M, Solarnau, L, Solsona, J, Veloso, E, Vidal, S, Abe, O, Abe, R, Enomoto, K, Kikuchi, K, Koyama, H, Masuda, H, Nomura, Y, Ohashi, Y, Sakai, K, Sugimachi, K, Toi, M, Tominaga, T, Uchino, J, Yoshida, M, Coles, CE, Haybittle, JL, Moebus, V, Leonard, CF, Calais, G, Garaud, P, Collett, V, Davies, C, Delmestri, A, Sayer, J, Harvey, VJ, Holdaway, IM, Kay, RG, Mason, BH, Forbe, JF, Franci, PA, Wilcken, N, Balic, M, Bartsch, R, Fesl, C, Fitzal, F, Fohler, H, Gnant, M, Greil, R, Jakesz, R, Marth, C, Mlineritsch, B, Pfeiler, G, Singer, CF, Steger, GG, Stoeger, H, Canney, P, Yosef, HMA, Focan, C, Peek, U, Oates, GD, Powell, J, Durand, M, Mauriac, L, Di Leo, A, Dolci, S, Larsimont, D, Nogaret, JM, Philippson, C, Piccart, MJ, Masood, MB, Parker, D, Price, JJ, Lindsay, MA, Mackey, J, Martin, M, Hupperets, PSGJ, Bates, T, Blamey, RW, Chetty, U, Ellis, IO, Mallon, E, Morgan, DAL, Patnick, J, Pinder, S, Lohrisch, C, Nichol, A, Bartlett, JMS, Bramwell, VH, Chen, BE, Chia, SKL, Gelmon, K, Goss, PE, Levine, MN, Parulekar, W, Pater, JL, Pritchard, KI, Shepherd, LE, Tu, D, Whelan, T, Berry, D, Broadwater, G, Cirrincione, C, Muss, H, Norton, L, Weiss, RB, Abu-Zahara, HT, Karpov, A, Portnoj, SL, Bowden, S, Brookes, C, Dunn, J, Fernando, I, Lee, M, Poole, C, Rea, D, Spooner, D, Barrett-Lee, PJ, Manse, RE, Monypenny, IJ, Gordon, NH, Davis, HL, Cuzick, J, Sestak, I, Lehingue, Y, Romestaing, P, Dubois, JB, Delozier, T, Griffon, B, Lesec'h, J Mace, Mustacchi, G, Petruzelka, L, Pribylova, O, Owen, JR, Meier, P, Shan, Y, Shao, YF, Wang, X, Zhao, DB, Howell, A, Swindell, R, Albano, J, de Oliveira, CF, Gervasio, H, Gordilho, J, Ejlertsen, B, Jensen, M-B, Mouridsen, H, Gelman, RS, Harris, JR, Hayes, D, Henderson, C, Shapiro, CL, Christiansen, P, Ewertz, M, Jensen, MB, Mouridsen, HT, Fehm, T, Trampisch, HJ, Dalesio, O, de Vries, EGE, Rodenhuis, S, van Tinteren, H, Comis, RL, Davidson, NE, Gray, R, Robert, N, Sledge, G, Solin, LJ, Sparano, JA, Tormey, DC, Wood, W, Cameron, D, Dixon, JM, Forrest, P, Jack, W, Kunkler, I, Rossbach, J, Klijn, JGM, Treurniet-Donker, AD, van Putten, WLJ, Rotmensz, N, Veronesi, U, Viale, G, Bartelink, H, Bijker, N, Bogaerts, J, Cardoso, F, Cufer, T, Julien, JP, Poortmans, PM, Rutgers, E, van de Velde, CJH, Cunningham, MP, Huovinen, R, Joensuu, H, Costa, A, Bonadonna, G, Gianni, L, Valagussa, P, Goldstein, LJ, Bonneterre, J, Fargeot, P, Fumoleau, P, Kerbrat, P, Lupors, E, Namer, M, Carrasco, E, Segui, MA, Eierman, W, Hilfrich, J, Jonat, W, Kaufmann, M, Kreienberg, R, Schumacher, M, Bastert, G, Rauschecker, H, Sauer, R, Sauerbrei, W, Schauer, A, Blohmer, JU, Costa, SD, Eidtmann, H, Gerber, B, Jackisch, C, Loib, S, von Minckwitz, G, de Schryver, A, Vakaet, L, Belfiglio, M, Nicolucci, A, Pellegrini, F, Pirozzoli, MC, Sacco, M, Valentini, M, McArdle, CS, Smith, DC, Stallard, S, Dent, DM, Gudgeon, CA, Hacking, A, Murray, E, Panieri, E, Werner, ID, De Salvo, GL, Del Bianco, P, Zavagno, G, Leone, B, Vallejo, CT, Zwenger, A, Galligioni, E, Lopez, M, Erazo, A, Medina, JY, Horiguchi, J, Takei, H, Fentiman, IS, Hayward, JL, Rubens, RD, Skilton, D, Scheurlen, H, Sohn, HC, Untch, M, Dafni, U, Markopoulos, C, Bamia, C, Fountzilas, G, Koliou, G-A, Manousou, K, Mavroudis, D, Klefstrom, P, Blomqvist, C, Saarto, T, Gallen, M, Canavese, G, Tinterri, C, Margreiter, R, de Lafontan, B, Mihura, J, Roche, H, Asselain, B, Salmon, RJ, Vilcoq, JR, Brain, E, de La Lande, B, Mouret-Fourme, E, Andre, F, Arriagada, R, Delaloge, S, Hill, C, Koscienly, S, Michiels, S, Rubino, C, A'Hern, R, Bliss, J, Ellis, P, Kilburn, L, Yarnold, JR, Benraadt, J, Kooi, M, van de Velde, AO, van Dongen, JA, Vermorken, JB, Castiglione, M, Coates, A, Colleoni, M, Collins, J, Forbes, J, Gelbe, RD, Goldhirsch, A, Lindtner, J, Price, KN, Regan, MM, Rudenstam, CM, Senn, HJ, Thuerlimann, B, Bliss, JM, Chilvers, CED, Coombes, RC, Hall, E, Marty, M, Buyse, M, Possinger, K, Schmid, P, Wallwiener, D, Foster, L, George, WD, Stewart, HJ, Stroner, P, Borovik, R, Hayat, H, Inbar, MJ, Peretz, T, Robinson, E, Camerini, T, Formelli, F, Martelli, G, Di Mauro, MG, Perrone, F, Amadori, D, Martoni, A, Pannuti, F, Camisa, R, Musolino, A, Passalacqua, R, Iwata, H, Shien, T, Ikeda, T, Inokuchi, K, Sawa, K, Sonoo, H, Sadoon, M, Tulusan, AH, Kohno, N, Miyashita, M, Takao, S, Ahn, J-H, Jung, KH, Korzeniowski, S, Skolyszewski, J, Ogawa, M, Yamashita, J, Bastiaannet, E, Liefers, GJ, Christiaens, R, Neven, P, Paridaens, R, Van den Bogaert, W, Gazet, JC, Corcoran, N, Deshpande, N, di Martino, L, Douglas, P, Host, H, Lindtner, A, Notter, G, Bryant, AJS, Ewing, GH, Firth, LA, Krushen-Kosloski, JL, Nissen-Meyer, R, Anderson, H, Killander, F, Malmstrom, P, Ryden, L, Arnesson, L-G, Carstense, J, Dufmats, M, Fohlin, H, Nordenskjold, B, Soderberg, M, Sundqvist, M, Carpenter, TJ, Murray, N, Royle, GT, Simmonds, PD, Albain, K, Barlow, W, Crowley, J, Gralow, J, Hortobagyi, G, Livingston, R, Martino, S, Osborne, CK, Ravdin, PM, Bergh, J, Bondesso, T, Celebiogl, F, Dahlberg, K, Fornander, T, Fredriksson, I, Frisell, J, Goransson, E, Iiristo, M, Johansson, U, Lenner, E, Lofgren, L, Nikolaidis, P, Perbeck, L, Rotstein, S, Sandelin, K, Skoog, L, Svane, G, af Trampe, E, Wadstrom, C, Janni, W, Maibach, R, Thurlimann, B, Hadji, P, Hozumi, J, Holli, K, Rouhento, K, Safra, T, Brenner, H, Hercbergs, A, Yoshimoto, M, Paterson, AHG, Fyles, A, Meakin, JW, Panzarella, T, Bahi, J, Lemonnier, J, Martin, AL, Reid, M, Spittle, M, Bishop, H, Bundred, NJ, Forbes, JF, Forsyth, S, George, WS, Pinder, SE, Deutsch, GP, Kwong, DLW, Pai, VR, Peto, R, Senanayake, F, Boccardo, F, Rubagotti, A, Baum, M, Hackshaw, A, Houghton, J, Ledermann, J, Monson, K, Tobias, JS, Carlomagno, C, De Laurentiis, M, De Placido, S, Schem, C, Williams, L, Bell, R, Coleman, RE, Dodwell, D, Hinsley, S, Marshall, HC, Pierce, LJ, Basso, SMM, Lumachi, F, Solomayer, E, Horsman, JM, Lester, J, Winter, MC, Buzdar, AU, Hsu, L, Love, RR, Ahlgren, J, Garmo, H, Holmberg, L, Lindman, H, Warnberg, F, Asmar, L, Jones, SE, Aft, R, Gluz, O, Harbeck, N, Liedtke, C, Nitz, U, Litton, A, Wallgren, A, Karlsson, P, Linderholm, BK, Chlebowski, RT, Caffier, H, Brufsky, AM, Llombart, HA, Asselain, B, Barlow, W, Bartlett, J, Bradley, R, Braybrooke, J, Davies, C, Dodwell, D, Gray, R, Mannu, G, Taylor, C, Peto, R, McGale, P, Pan, H, Wang, Y, Wang, Z, Department of Oncology, Clinicum, HUS Comprehensive Cancer Center, Medical Oncology, Cancer Research UK, and Pfizer Limited
Subjects: 0301 basic medicine, Oncology, Time Factors, SURGERY, medicine.medical_treatment, menopause, chemotherapy, Mastectomy, Segmental, Rate ratio, THERAPY, aromatase inhibitors, CEA, 0302 clinical medicine, Risk Factors, Medicine and Health Sciences, Breast, Neoplasm Metastasis, Randomized Controlled Trials as Topic, RISK, tamoxifen, breast tumor, CA15-3, axillary dissection, mastectomy, Middle Aged, Neoadjuvant Therapy, METHOTREXATE, 3. Good health, trastuzumab, Treatment Outcome, quadrantectomy, Chemotherapy, Adjuvant, axillary lymphnodes, 030220 oncology & carcinogenesis, Meta-analysis, SURVIVAL, Disease Progression, Female, Life Sciences & Biomedicine, axillary clearance, RADIOTHERAPY, medicine.drug, Adult, medicine.medical_specialty, Anthracycline, 3122 Cancers, Antineoplastic Agents, Breast Neoplasms, axillary nodes, sentinel node biopsy, 03 medical and health sciences, breast cancer, Breast cancer, SDG 3 - Good Health and Well-being, HER2, Internal medicine, Journal Article, medicine, cancer, Humans, Breast, breast cancer, breast diseases, cancer, malignancy, menopause, surgery, mastectomy, quadrantectomy, lumpectomy, axillary nodes, axillary lymphnodes, axillary dissection, axillary clearance, sentinel node biopsy, sentinel node, BRCA1, BRCA2, tamoxifen, aromatase inhibitors, breast tumor, osteoporosis, bisphosphonates, denosumab, trastuzumab, HER2, CEA, CA15-3, tumor marker, chemotherapy, endocrine therapy, Oncology & Carcinogenesis, RECURRENCE, bisphosphonates, Pathological, Neoplasm Staging, lumpectomy, Chemotherapy, Science & Technology, breast diseases, endocrine therapy, business.industry, denosumab, BRCA1, medicine.disease, BRCA2, osteoporosis, Radiation therapy, STIMULATING FACTOR, 030104 developmental biology, sentinel node, tumor marker, Methotrexate, Neoplasm Recurrence, Local, business, 1112 Oncology And Carcinogenesis, malignancy
Abstract: BACKGROUND: Neoadjuvant chemotherapy (NACT) for early breast cancer can make breast-conserving surgery more feasible and might be more likely to eradicate micrometastatic disease than might the same chemotherapy given after surgery. We investigated the long-term benefits and risks of NACT and the influence of tumour characteristics on outcome with a collaborative meta-analysis of individual patient data from relevant randomised trials. METHODS: We obtained information about prerandomisation tumour characteristics, clinical tumour response, surgery, recurrence, and mortality for 4756 women in ten randomised trials in early breast cancer that began before 2005 and compared NACT with the same chemotherapy given postoperatively. Primary outcomes were tumour response, extent of local therapy, local and distant recurrence, breast cancer death, and overall mortality. Analyses by intention-to-treat used standard regression (for response and frequency of breast-conserving therapy) and log-rank methods (for recurrence and mortality). FINDINGS: Patients entered the trials from 1983 to 2002 and median follow-up was 9 years (IQR 5-14), with the last follow-up in 2013. Most chemotherapy was anthracycline based (3838 [81%] of 4756 women). More than two thirds (1349 [69%] of 1947) of women allocated NACT had a complete or partial clinical response. Patients allocated NACT had an increased frequency of breast-conserving therapy (1504 [65%] of 2320 treated with NACT vs 1135 [49%] of 2318 treated with adjuvant chemotherapy). NACT was associated with more frequent local recurrence than was adjuvant chemotherapy: the 15 year local recurrence was 21·4% for NACT versus 15·9% for adjuvant chemotherapy (5·5% increase [95% CI 2·4-8·6]; rate ratio 1·37 [95% CI 1·17-1·61]; p=0·0001). No significant difference between NACT and adjuvant chemotherapy was noted for distant recurrence (15 year risk 38·2% for NACT vs 38·0% for adjuvant chemotherapy; rate ratio 1·02 [95% CI 0·92-1·14]; p=0·66), breast cancer mortality (34·4% vs 33·7%; 1·06 [0·95-1·18]; p=0·31), or death from any cause (40·9% vs 41·2%; 1·04 [0·94-1·15]; p=0·45). INTERPRETATION: Tumours downsized by NACT might have higher local recurrence after breast-conserving therapy than might tumours of the same dimensions in women who have not received NACT. Strategies to mitigate the increased local recurrence after breast-conserving therapy in tumours downsized by NACT should be considered-eg, careful tumour localisation, detailed pathological assessment, and appropriate radiotherapy. FUNDING: Cancer Research UK, British Heart Foundation, UK Medical Research Council, and UK Department of Health. ispartof: LANCET ONCOLOGY vol:19 issue:1 pages:27-39 ispartof: location:England status: published
Published: 2017
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9. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Author: Federici S., Sormani M. P., Ozen S., Lachmann H. J., Amaryan G., Woo P., Kone-Paut I., Dewarrat N., Cantarini L., Insalaco A., Uziel Y., Rigante D., Quartier P., Demirkaya E., Herlin T., Meini A., Fabio G., Kallinich T., Martino S., Butbul A. Y., Olivieri A., Kuemmerle-Deschner J., Neven B., Simon A., Ozdogan H., Touitou I., Frenkel J., Hofer M., Martini A., Ruperto N., Gattorno M., Espada G., Russo R., De Cunto C., Boros C., Borzutzky A., Jelusic-Drazic M., Dolezalova P., Nielsen S., Hentgen V., Schwarz T., Berendes R., Jansson A., Horneff G., Papadopoulou-Alataki E., Tsitsami E., Tsakalidou F. K., Gallizzi R., Obici L., Barone P., Cimaz R., Alessio M., Nishikomori R., Stanevicha V., Hoppenreijs E., Wolska-Kusnierz B., Iagaru N., Nikishina I., Al-Mayouf S. M., Sewairi, Susic G., Toplak N., Modesto C., Elorduy M. J. R., Anton J., Bou R., Federici, S., Sormani, M. P., Ozen, S., Lachmann, H. J., Amaryan, G., Woo, P., Kone-Paut, I., Dewarrat, N., Cantarini, L., Insalaco, A., Uziel, Y., Rigante, D., Quartier, P., Demirkaya, E., Herlin, T., Meini, A., Fabio, G., Kallinich, T., Martino, S., Butbul, A. Y., Olivieri, A., Kuemmerle-Deschner, J., Neven, B., Simon, A., Ozdogan, H., Touitou, I., Frenkel, J., Hofer, M., Martini, A., Ruperto, N., Gattorno, M., Espada, G., Russo, R., De Cunto, C., Boros, C., Borzutzky, A., Jelusic-Drazic, M., Dolezalova, P., Nielsen, S., Hentgen, V., Schwarz, T., Berendes, R., Jansson, A., Horneff, G., Papadopoulou-Alataki, E., Tsitsami, E., Tsakalidou, F. K., Gallizzi, R., Obici, L., Barone, P., Cimaz, R., Alessio, M., Nishikomori, R., Stanevicha, V., Hoppenreijs, E., Wolska-Kusnierz, B., Iagaru, N., Nikishina, I., Al-Mayouf, S. M., Sewairi, Susic, G., Toplak, N., Modesto, C., Elorduy, M. J. R., Anton, J., Bou, R., Istituto Giannina Gaslini, Genova, Immunologia Clinica e Sperimentale, University of Genoa (UNIGE), Hacettepe University = Hacettepe Üniversitesi, National Amyloidosis Centre, University College London Medical School, University College of London [London] (UCL), 'ARABKIR' JOINT MEDICAL CENTER & INSTITUTE OF CHILD AND ADOLESCENT HEALTH, Cardiac Unit, Institute of Child Health (UCL), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), University Hospital Center (CHUV) and University of Lausanne (UNIL), Lausanne, Università degli Studi di Siena = University of Siena (UNISI), Children's Hospital Bambino Gesù IRCCS [Rome], Meir Medical Centre, Università cattolica del Sacro Cuore [Roma] (Unicatt), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Ankara University School of Medicine [Turkey], Aarhus University Hospital, Università degli Studi di Brescia [Brescia], IRCCS Istituto Nazionale dei Tumori [Milano], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Università degli studi di Torino (UNITO), Rambam Medical Health Center, Israel., Universita degli studi di Napoli 'Parthenope' [Napoli], Universitätsklinikum Tübingen - University Hospital of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Radboud University Medical Centre [Nijmegen, The Netherlands], Cerrahpasa Faculty of Medicine, Istanbul University, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Geneva University Hospital (HUG), Universita degli studi di Genova, and Olivieri, Alma Nunzia
Subjects: Male, Pediatrics, Multivariate analysis, [SDV]Life Sciences [q-bio], Fever Syndromes, Familial Mediterranean fever, Immunology and Allergy, Mevalonate Kinase Deficiency/classification/diagnosis, Registries, Child, ddc:618, Evidence-Based Medicine, Middle Aged, Pharyngitis, 3. Good health, Familial Mediterranean Fever, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Autoinflammation, Familial Mediterranean Fever/classification/diagnosis, Female, medicine.symptom, Periodic fever syndrome, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, medicine.medical_specialty, Fever, Adolescent, Immunology, Cryopyrin-Associated Periodic Syndromes/classification/diagnosis, Sensitivity and Specificity, General Biochemistry, Genetics and Molecular Biology, Young Adult, Inflammation, Rheumatology, medicine, Humans, Preschool, Hereditary Autoinflammatory Diseases/classification/diagnosis, Receiver operating characteristic, business.industry, Hereditary Autoinflammatory Diseases, Case-control study, Cryopyrin-associated periodic syndrome, Infant, Gold standard (test), medicine.disease, Case-Control Studies, Cryopyrin-Associated Periodic Syndromes, Mevalonate Kinase Deficiency, ROC Curve, business
Abstract: Item does not contain fulltext The objective of this work was to develop and validate a set of clinical criteria for the classification of patients affected by periodic fevers. Patients with inherited periodic fevers (familial Mediterranean fever (FMF); mevalonate kinase deficiency (MKD); tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS); cryopyrin-associated periodic syndromes (CAPS)) enrolled in the Eurofever Registry up until March 2013 were evaluated. Patients with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome were used as negative controls. For each genetic disease, patients were considered to be 'gold standard' on the basis of the presence of a confirmatory genetic analysis. Clinical criteria were formulated on the basis of univariate and multivariate analysis in an initial group of patients (training set) and validated in an independent set of patients (validation set). A total of 1215 consecutive patients with periodic fevers were identified, and 518 gold standard patients (291 FMF, 74 MKD, 86 TRAPS, 67 CAPS) and 199 patients with PFAPA as disease controls were evaluated. The univariate and multivariate analyses identified a number of clinical variables that correlated independently with each disease, and four provisional classification scores were created. Cut-off values of the classification scores were chosen using receiver operating characteristic curve analysis as those giving the highest sensitivity and specificity. The classification scores were then tested in an independent set of patients (validation set) with an area under the curve of 0.98 for FMF, 0.95 for TRAPS, 0.96 for MKD, and 0.99 for CAPS. In conclusion, evidence-based provisional clinical criteria with high sensitivity and specificity for the clinical classification of patients with inherited periodic fevers have been developed.
Published: 2015
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10. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study

Author: Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M, IPINet Investigators, De Mattia D, Martire B, Cardinale F, Ranieri G, Silvestri F, Masi M, Cossu F, Anastasio E, Schillirò G, Matucci A, Vultaggio A, Aricò M, Pietrogrande MC, Delle Piane RM, Panisi C, Cambiaghi G, Pignata C, Putti MC, Trizzino A, Bertolini P, Consolini R, Ugazio AG, Duse M, Iacobini M, Moschese V, Cancrini C, Finocchi A, Pesce AM, Cagliuso M, Conti V, Granata G, Mitrevski M, Cecere F, Tovo PA, Martino S, Montin D, Nespoli L, Marinoni M, Pellegrini FP, Cazzola G.A., PESSION, ANDREA, Quinti., I, Soresina, A., Guerra, A., Rondelli, R., Spadaro, Giuseppe, Agostini, C., Milito, C., Trombetta, A. C., Visentini, M., Martini, H., Plebani, A., Fiorilli, M., De Mattia, D., Martire, B., Cardinale, F., Ranieri, G., Silvestri, F., Masi, M., Pession, A., Cossu, F., Anastasio, E., Schillirò, G., Matucci, A., Vultaggio, A., Aricò, M., Pietrogrande, M. C., Delle Piane, R. M., Panisi, C., Cambiaghi, G., Pignata, Claudio, Putti, M. C., Trizzino, A., Bertolini, P., Consolini, R., Ugazio, A. G., Duse, M., Iacobini, M., Moschese, V., Cancrini, C., Finocchi, A., Pesce, A. M., Cagliuso, M., Conti, V., Granata, G., Mitrevski, M., Cecere, F., Tovo, P. A., Martino, S., Montin, D., Nespoli, L., Marinoni, M., Pellegrini, F. P., Cazzola, G. A., Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, Milito C, Trombetta AC, Visentini M, Martini H, Plebani A, Fiorilli M, IPINet Investigator, De Mattia D, Martire B, Cardinale F, Ranieri G, Silvestri F, Masi M, Pession A, Cossu F, Anastasio E, Schillirò G, Matucci A, Vultaggio A, Aricò M, Pietrogrande MC, Delle Piane RM, Panisi C, Cambiaghi G, Pignata C, Putti MC, Trizzino A, Bertolini P, Consolini R, Ugazio AG, Duse M, Iacobini M, Moschese V, Cancrini C, Finocchi A, Pesce AM, Cagliuso M, Conti V, Granata G, Mitrevski M, Cecere F, Tovo PA, Martino S, Montin D, Nespoli L, Marinoni M, Pellegrini FP, and Cazzola GA.
Subjects: Male, bronchiectasis, X-linked agammaglobulinemia, Comorbidity, Gastroenterology, Immunoglobulin G, 0302 clinical medicine, Agammaglobulinemia, Risk Factors, Immunology and Allergy, Prospective Studies, Child, Prospective cohort study, 0303 health sciences, biology, Incidence, common variable immunodeficiency, Middle Aged, 3. Good health, Treatment Outcome, Italy, Female, Intravenous, Adult, x-linked agammaglobulinemia, medicine.medical_specialty, immunoglobulin replacement, Adolescent, effectiveness, iga, Immunology, Disease-Free Survival, Injections, Databases, 03 medical and health sciences, Immunoglobulin replacement, common variable immunodeficiency, X-linked agammaglobulinemia, bronchiectasis, IgA, effectiveness, Internal medicine, medicine, Humans, Risk factor, Preschool, Factual, Aged, 030304 developmental biology, Settore MED/38 - Pediatria Generale e Specialistica, Bronchiectasis, business.industry, Common variable immunodeficiency, Infant, Pneumonia, X-Linked, medicine.disease, Databases, Factual, Injections, Intravenous, Child, Preschool, Immunoglobulin A, Follow-Up Studies, Common Variable Immunodeficiency, Genes, X-Linked, Genes, biology.protein, Trough level, business, 030215 immunology
Abstract: A 5-years multicenter prospective study on 201 patients with common variable immunodeficiencies and 101 patients with X-linked agammaglobulinemia over a cumulative follow-up period of 1,365 patient-years was conducted to identify prognostic markers and risk factors for associated clinical co-morbidities, the effects of long-term immunoglobulin treatment and the IgG trough level to be maintained over time required to minimise infection risk. Overall, 21% of the patients with common variable immunodeficiencies and 24% of patients with X-linked agammaglobulinemia remained infection free during the study. A reduction of pneumonia episodes has been observed after initiation of Ig replacement. During the observation time, pneumonia incidence remained low and constant over time. Patients with pneumonia did not have significant lower IgG trough levels than patients without pneumonia, with the exception of patients whose IgG trough levels were persistently < 400 mg/dL. In X-linked agammaglobulinemia, the only co-morbidity risk factor identified for pneumonia by the final multivariable model was the presence of bronchiectasis. In common variable immunodeficiencies, our data allowed us to identify a clinical phenotype characterised by a high pneumonia risk: patients with low IgG and IgA levels at diagnosis; patients who had IgA level < 7 mg/dL and who had bronchiectasis. The effect of therapy with immunoglobulins at replacement dosage for non-infectious co-morbidities (autoimmunity, lymphocytic hyperplasia and enteropathy) remains to be established. A unique general protective trough IgG level in antibody deficiency patients will remain undefined because of the major role played by the progression of lung disease in X-linked agammaglobulinemia and in a subset of patients with common variable immunodeficiencies.
Published: 2011

11. Methotrexate treatment in juvenile localized scleroderma: a randomized, double-blind, placebo-controlled trial

Author: Zulian, Francesco, Martini, G, Vallongo, C, Vittadello, F, Falcini, F, Patrizi, A, Alessio, M, Torre, Fl, Podda, Ra, Gerloni, V, Cutrone, M, Belloni Fortina, A, Paradisi, M, Martino, S, Perilongo, Giorgio, BELLONI FORTINA, Anna, Zulian, F, Martini, G, Vallongo, C, Vittadello, F, Falcini, F, Patrizi, A, Alessio, Maria, Torre, Fl, Podda, Ra, Gerloni, V, Cutrone, M, Belloni Fortina, A, Paradisi, M, Martino, S, Perilongo, G., Zulian F., Martini G., Vallongo C., Vittadello F., Falcini F., Patrizi A., Alessio M., Torre F.L., Podda R.A., Gerloni V., Cutrone M., Belloni-Fortina A., Paradisi M., Martino S., and Perilongo G.
Subjects: Male, medicine.medical_specialty, Adolescent, Immunology, Population, Placebo-controlled study, Kaplan-Meier Estimate, Placebo, Gastroenterology, Severity of Illness Index, Drug Administration Schedule, law.invention, Lesion, Scleroderma, Localized, fibrotic disorder, Rheumatology, Randomized controlled trial, Double-Blind Method, law, Internal medicine, medicine, Immunology and Allergy, Humans, Pharmacology (medical), Prospective Studies, education, Localized Scleroderma, Child, Juvenile localized scleroderma, education.field_of_study, Intention-to-treat analysis, treatment, business.industry, medicine.disease, Surgery, Intention to Treat Analysis, Methotrexate, Treatment Outcome, Antirheumatic Agents, Female, Dermatologic Agents, medicine.symptom, business, Morphea
Abstract: Objective Juvenile localized scleroderma is a chronic progressive fibrotic disorder of the skin that causes permanent disability and aesthetic damage. This study was undertaken to assess the safety and efficacy of methotrexate (MTX) in the treatment of juvenile localized scleroderma. Methods In this double-blind study, patients with active juvenile localized scleroderma were randomized (2:1) to receive oral MTX (15 mg/m 2, maximum 20 mg) or placebo once weekly, for 12 months or until treatment failure. Both groups received oral prednisone (1 mg/kg/day, maximum 50 mg) for the first 3 months. A target lesion was evaluated clinically, with infrared thermography and using a computerized scoring system with skin score rate (SSR) evaluation. Response to treatment was defined as the absence of new lesions, SSR â1, and a decrease in lesion temperature of at least 10% compared to baseline. Treatment failure was defined as the occurrence of new lesions, SSR >1, or increased lesion temperature. All analyses were done on the intent-to-treat population. Results Of the 85 patients screened, 70 (ages 6-17 years) were randomized (46 to the MTX group, 24 to the placebo group). The mean disease duration was 2.3 years. After an initial response in all patients, disease relapsed in 15 MTX-treated patients (32.6%) and 17 placebo-treated patients (70.8%) (P ;lt& 0.005). New lesions appeared in 3 MTX-treated patients (6.5%) versus 4 placebo-treated patients (16.7%). The mean SSR decreased from 1 to 0.79 in the MTX group and increased from 1 to 1.1 in the placebo group, and the mean target lesion temperature decreased by 44.4% in the MTX group versus 12.1% in the placebo group. Twenty-six patients in the MTX group (56.5%) and 11 patients in the placebo group (45.8%) developed mild side effects related to treatment. None of the side effects were severe enough to necessitate treatment discontinuation. Conclusion Our findings indicate that MTX is efficacious in the treatment of juvenile localized scleroderma and is well tolerated. Copyright © 2011 by the American College of Rheumatology.
Published: 2011

12. Effect of radiotherapy after mastectomy and axillary surgery on 10-year recurrence and 20-year breast cancer mortality: meta-analysis of individual patient data for 8135 women in 22 randomised trials

Author: Mcgale, P., Taylor, C., Correa, C., Cutter, D., Duane, F., Ewertz, M., Gray, R., Mannu, G., Peto, R., Whelan, T., Wang, Y., Wang, Z., Darby, S., Albain, K., Anderson, S., Arriagada, R., Barlow, W., Bergh, J., Bergsten Nordström, E., Bliss, J., Burrett, J. A., Buyse, M., Cameron, D., Carrasco, E., Clarke, M., Coleman, R., Coates, A., Collins, R., Costantino, J., Cuzick, J., Davidson, N., Davies, C., Davies, K., Delmestri, A., Di Leo, A., Dowsett, M., Elphinstone, P., Evans, V., Forbes, J., Gelber, R., Gettins, L., Geyer, C., Gianni, L., Gnant, M., Goldhirsch, A., Godwin, J., Gregory, C., Hayes, D., Hill, C., Ingle, J., Jakesz, R., James, S., Janni, W., Kaufmann, M., Kerr, A., Liu, H., Mackinnon, E., Martín, M., Mchugh, T., Morris, P., Norton, L., Ohashi, Y., Paik, S., Pan, H. C., Perez, E., Piccart, M., Pierce, L., Pritchard, K., Pruneri, G., Raina, V., Ravdin, P., Robertson, J., Rutgers, E., Shao, Y. F., Sparano, J., Swain, S., Valagussa, P., Viale, G., Von Minckwitz, G., Winer, E., Wiang, X., Wood, Abe O, W., Abe, R, Enomoto, K, Kikuchi, K, Koyama, H, Masuda, H, Nomura, Y, Ohashi, Y, Sakai, K, Sugimachi, K, Toi, M, Tominaga, T, Uchino, J, Yoshida, M, Haybittle, Jl, Leonard, Cf, Calais, G, Geraud, P, Collett, V, Davies, C, Delmestri, A, Sayer, J, Harvey, Vj, Holdaway, Im, Kay, Rg, Mason, Bh, Forbes, Jf, Wilcken, N, Bartsch, R, Dubsky, P, Fesl, C, Fohler, H, Gnant, M, Greil, R, Jakesz, R, Lang, A, Luschin-Ebengreuth, G, Marth, C, Mlineritsch, B, Samonigg, H, Singer, Cf, Steger, Gg, Stöger, H, Canney, P, Yosef, Hm, Focan, C, Peek, U, Oates, Gd, Powell, J, Durand, M, Mauriac, L, Di Leo, A, Dolci, S, Larsimont, D, Nogaret, Jm, Philippson, C, Piccart, Mj, Masood, Mb, Parker, D, Price, Jj, Lindsay, Ma, Mackey, J, Martin, M, Hupperets, Ps, Bates, T, Blamey, Rw, Chetty, U, Ellis, Io, Mallon, E, Morgan, Da, Patnick, J, Pinder, S, Olivotto, I, Ragaz, J, Berry, D, Broadwater, G, Cirrincione, C, Muss, H, Norton, L, Weiss, Rb, Abu-Zahra, Ht, Portnoj, Sm, Bowden, S, Brookes, C, Dunn, J, Fernando, I, Lee, M, Poole, C, Rea, D, Spooner, D, Barrett-Lee, Pj, Mansel, Re, Monypenny, Ij, Gordon, Nh, Davis, Hl, Cuzick, J, Lehingue, Y, Romestaing, P, Dubois, Jb, Delozier, T, Griffon, B, Mace Lesech, J, Brain, E, de La Lande, B, Mouret-Fourme, E, Mustacchi, G, Petruzelka, L, Pribylova, O, Owen, Jr, Harbeck, N, Jänicke, F, Meisner, C, Schmitt, M, Thomssen, C, Meier, P, Shan, Y, Shao, Yf, Wang, X, Zhao, Db, Chen, Zm, Pan, Hc, Howell, A, Swindell, R, Burrett, Ja, Clarke, M, Collins, R, Correa, C, Cutter, D, Darby, S, Davies, K, Elphinstone, P, Evans, V, Gettins, L, Godwin, J, Gray, R, Gregory, C, Hermans, D, Hicks, C, James, S, Kerr, A, Liu, H, Mackinnon, E, Lay, M, Mcgale, P, Mchugh, T, Morris, P, Peto, R, Taylor, C, Wang, Y, Albano, J, de Oliveira CF, Gervásio, H, Gordilho, J, Ejlertsen, B, Jensen, Mb, Johansen, H, Mouridsen, H, Palshof, T, Gelman, Rs, Harris, Jr, Hayes, D, Henderson, C, Shapiro, Cl, Winer, E, Christiansen, P, Ewertz, M, Møller, S, Mouridsen, Ht, Trampisch, Hj, Dalesio, O, de Vries EG, Rodenhuis, S, van Tinteren, H, Comis, Rl, Davidson, Ne, Robert, N, Sledge, G, Solin, Lj, Sparano, Ja, Tormey, Dc, Wood, W, Cameron, D, Dixon, Jm, Forrest, P, Jack, W, Kunkler, I, Rossbach, J, Klijn, Jg, Treurniet-Donker, Ad, van Putten WL, Rotmensz, N, Veronesi, U, Viale, G, Bartelink, H, Bijker, N, Bogaerts, J, Cardoso, F, Cufer, T, Julien, Jp, Rutgers, E, van de Velde CJ, Cunningham, Mp, Huovinen, R, Joensuu, H, Costa, A, Bonadonna, G, Gianni, L, Valagussa, P, Goldstein, Lj, Bonneterre, J, Fargeot, P, Fumoleau, P, Kerbrat, P, Luporsi, E, Namer, M, Eiermann, W, Hilfrich, J, Jonat, W, Kaufmann, M, Kreienberg, R, Schumacher, M, Bastert, G, Rauschecker, H, Sauer, R, Sauerbrei, W, Schauer, A, Blohmer, Ju, Costa, Sd, Eidtmann, H, Gerber, B, Jackisch, C, Loibl, S, von Minckwitz, G, de Schryver, A, Vakaet, L, Belfiglio, M, Nicolucci, A, Pellegrini, F, Pirozzoli, Mc, Sacco, M, Valentini, M, Mcardle, Cs, Smith, Dc, Stallard, S, Dent, Dm, Gudgeon, Ca, Hacking, A, Murray, E, Panieri, E, Werner, Id, Carrasco, E, Segui, Ma, Galligioni, E, Lopez, M, Erazo, A, Medina, Jy, Horiguchi, J, Takei, H, Fentiman, Is, Hayward, Jl, Rubens, Rd, Skilton, D, Scheurlen, H, Sohn, Hc, Untch, M, Dafni, U, Markopoulos, C, Fountzilas, G, Mavroudis, D, Klefstrom, P, Blomqvist, C, Saarto, T, Gallen, M, Tinterri, C, Margreiter, R, de Lafontan, B, Mihura, J, Roché, H, Asselain, B, Salmon, Rj, Vilcoq, Jr, André, F, Arriagada, R, Delaloge, S, Hill, C, Koscielny, S, Michiels, S, Rubino, C, A'Hern, R, Bliss, J, Ellis, P, Kilburn, L, Yarnold, Jr, Benraadt, J, Kooi, M, van de Velde AO, van Dongen JA, Vermorken, Jb, Castiglione, M, Coates, A, Colleoni, M, Collins, J, Forbes, J, Gelber, Rd, Goldhirsch, A, Lindtner, J, Price, Kn, Regan, Mm, Rudenstam, Cm, Senn, Hj, Thuerlimann, B, Bliss, Jm, Chilvers, Ce, Coombes, Rc, Hall, E, Marty, M, Buyse, M, Possinger, K, Schmid, P, Wallwiener, D, Foster, L, George, Wd, Stewart, Hj, Stroner, P, Borovik, R, Hayat, H, Inbar, Mj, Peretz, T, Robinson, E, Bruzzi, P, Del Mastro, L, Pronzato, P, Sertoli, Mr, Venturini, M, Camerini, T, De Palo, G, Di Mauro MG, Formelli, F, Amadori, D, Martoni, A, Pannuti, F, Camisa, R, Cocconi, G, Colozza, A, Passalacqua, R, Aogi, K, Takashima, S, Abe, O, Ikeda, T, Inokuchi, K, Sawa, K, Sonoo, H, Korzeniowski, S, Skolyszewski, J, Ogawa, M, Yamashita, J, Bastiaannet, E, van de Water, W, van Nes JG, Christiaens, R, Neven, P, Paridaens, R, Van den Bogaert, W, Braun, S, Martin, P, Romain, S, Janauer, M, Seifert, M, Sevelda, P, Zielinski, Cc, Hakes, T, Hudis, Ca, Wittes, R, Giokas, G, Kondylis, D, Lissaios, B, de la Huerta, R, Sainz, Mg, Altemus, R, Camphausen, K, Cowan, K, Danforth, D, Lichter, A, Lippman, M, O'Shaughnessy, J, Pierce, Lj, Steinberg, S, Venzon, D, Zujewski, Ja, D'Amico, C, Lioce, M, Paradiso, A, Chapman, Ja, Gelmon, K, Goss, Pe, Levine, Mn, Meyer, R, Parulekar, W, Pater, Jl, Pritchard, Ki, Shepherd, Le, Tu, D, Whelan, T, Ohno, S, Anderson, S, Bass, G, Brown, A, Bryant, J, Costantino, J, Dignam, J, Fisher, B, Geyer, C, Mamounas, Ep, Paik, S, Redmond, C, Swain, S, Wickerham, L, Wolmark, N, Baum, M, Jackson, Im, Palmer, Mk, Perez, E, Ingle, Jn, Suman, Vj, Bengtsson, No, Emdin, S, Jonsson, H, Lythgoe, Jp, Kissin, M, Erikstein, B, Hannisdal, E, Jacobsen, Ab, Varhaug, Je, Gundersen, S, Hauer-Jensen, M, Høst, H, Nissen-Meyer, R, Reinertsen, K, Mitchell, Ak, Robertson, Jf, Ueo, H, Di Palma, M, Mathé, G, Misset, Jl, Levine, M, Morimoto, K, Takatsuka, Y, Crossley, E, Harris, A, Talbot, D, Taylor, M, di Blasio, B, Ivanov, V, Paltuev, R, Semiglazov, V, Brockschmidt, J, Cooper, Mr, Falkson, Ci, Dowsett, M, Makris, A, Parton, M, Pennert, K, Powles, Tj, Smith, Ie, Gazet, Jc, Browne, L, Graham, P, Corcoran, N, Businico, A, Deshpande, N, di Martino, L, Douglas, P, Lindtner, A, Notter, G, Bryant, Aj, Ewing, Gh, Firth, La, Krushen-Kosloski, Jl, Anderson, H, Killander, F, Malmström, P, Rydén, L, Arnesson, Lg, Carstensen, J, Dufmats, M, Fohlin, H, Nordenskjöld, B, Söderberg, M, Carpenter, Jt, Murray, N, Royle, Gt, Simmonds, Pd, Albain, K, Barlow, W, Crowley, J, Gralow, J, Hortobagyi, G, Livingston, R, Martino, S, Osborne, Ck, Ravdin, Pm, Adolfsson, J, Bergh, J, Bondesson, T, Celebioglu, F, Dahlberg, K, Fornander, T, Fredriksson, I, Frisell, J, Göransson, E, Iiristo, M, Johansson, U, Lenner, E, Löfgren, L, Nikolaidis, P, Perbeck, L, Rotstein, S, Sandelin, K, Skoog, L, Svane, G, af Trampe, E, Wadström, C, Janni, W, Maibach, R, Thürlimann, B, Hakama, M, Holli, K, Isola, J, Rouhento, K, Saaristo, R, Brenner, H, Hercbergs, A, Yoshimoto, M, Paterson, Ah, Fyles, A, Meakin, Jw, Panzarella, T, Bahi, J, Reid, M, Spittle, M, Bishop, H, Bundred, Nj, Forsyth, S, Pinder, Se, Sestak, I, Deutsch, Gp, Kwong, Dl, Pai, Vr, Senanayake, F, Martin, Al, Boccardo, F, Rubagotti, A, Hackshaw, A, Houghton, J, Ledermann, J, Monson, K, Tobias, Js, Carlomagno, C, De Laurentiis, M, De Placido, S, Williams, L, Broglio, K, Buzdar, Au, Hsu, L, Love, Rr, Ahlgren, J, Garmo, H, Holmberg, L, Liljegren, G, Lindman, H, Wärnberg, F, Asmar, L, Jones, Se, Gluz, O, Liedtke, C, Nitz, U, Litton, A, Wallgren, A, Karlsson, P, Linderholm, Bk, Chlebowski, Rt, Caffier, H., McGale, P, Taylor, C, Correa, C, Cutter, D, Duane, F, Ewertz, M, Gray, R, Mannu, G, Peto, R, Whelan, T, Wang, Y, Wang, Z, Darby, S, Biomedische Technologie, RS: GROW - Oncology, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Mcgale, P, DE LAURENTIIS, Michelino, Other departments, CCA -Cancer Center Amsterdam, and Radiotherapy
Subjects: medicine.medical_specialty, medicine.medical_treatment, Breast Neoplasms, Rate ratio, Lower risk, Systemic therapy, Statistical significance, Medicine, Humans, Mastectomy, Randomized Controlled Trials as Topic, business.industry, Articles, General Medicine, Surgery, Radiation therapy, Axilla, Neoplasm Recurrence, medicine.anatomical_structure, Local, Meta-analysis, Lymphatic Metastasis, Lymph Node Excision, Female, Neoplasm Recurrence, Local, business, Breast Neoplasm, Human
Abstract: BACKGROUND: Postmastectomy radiotherapy was shown in previous meta-analyses to reduce the risks of both recurrence and breast cancer mortality in all women with node-positive disease considered together. However, the benefit in women with only one to three positive lymph nodes is uncertain. We aimed to assess the effect of radiotherapy in these women after mastectomy and axillary dissection.METHODS: We did a meta-analysis of individual data for 8135 women randomly assigned to treatment groups during 1964-86 in 22 trials of radiotherapy to the chest wall and regional lymph nodes after mastectomy and axillary surgery versus the same surgery but no radiotherapy. Follow-up lasted 10 years for recurrence and to Jan 1, 2009, for mortality. Analyses were stratified by trial, individual follow-up year, age at entry, and pathological nodal status.FINDINGS: 3786 women had axillary dissection to at least level II and had zero, one to three, or four or more positive nodes. All were in trials in which radiotherapy included the chest wall, supraclavicular or axillary fossa (or both), and internal mammary chain. For 700 women with axillary dissection and no positive nodes, radiotherapy had no significant effect on locoregional recurrence (two-sided significance level [2p]>0·1), overall recurrence (rate ratio [RR], irradiated vs not, 1·06, 95% CI 0·76-1·48, 2p>0·1), or breast cancer mortality (RR 1·18, 95% CI 0·89-1·55, 2p>0·1). For 1314 women with axillary dissection and one to three positive nodes, radiotherapy reduced locoregional recurrence (2pINTERPRETATION: After mastectomy and axillary dissection, radiotherapy reduced both recurrence and breast cancer mortality in the women with one to three positive lymph nodes in these trials even when systemic therapy was given. For today's women, who in many countries are at lower risk of recurrence, absolute gains might be smaller but proportional gains might be larger because of more effective radiotherapy.FUNDING: Cancer Research UK, British Heart Foundation, UK Medical Research Council.
Published: 2016
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13. The Quality of Life of Children and Adolescents with X-Linked Agammaglobulinemia

Author: Soresina A., Nacinovich R., Bomba M., Cassani M., Molinaro A., Sciotto A., Martino S., Cardinale F., De Mattia D., Putti C., Dellepiane R.M., Felici L., Parrinello G., Neri F., Plebani A., Pierani P., DeMattia D., Martire B., Armenio L., Dammacco F., Ranieri G., Masi M., Miniaci A., Pession A., Rondelli R., Notarangelo L. D., Cao, Cossu F., Del Giacco S., Manconi P., Evangelista I., Magro S., Morgione S., STRISCIUGLIO, PIETRO, Anastasio E., Schillirò G., Paganelli R., Sticca M., Sperlì D., Carpino L., Bernini G., Azzari C., Maggi E., Romagnani S., Matucci A., Vultaggio A., Castagnola E., Gattorno M., Presta G., Civino A., Gambaretto G., Fasoli S., Salpietro C., Pietrogrande M.C., DellePiane R.M., Panisi C., Cambiaghi G., Pietrogrande M., Roncarolo M.G., Aiuti A., Masera G., Biondi A., Sala A., PIGNATA, CLAUDIO, Poggi V., Menna G., Di Nardo R., D'Apuzzo A., Pelliccia A., Correra A., Marone G., SPADARO, GIUSEPPE, Carli M., Zanesco L., Basso G., Putti M.C., Semenzato G., Agostini C., Amato G.M., Aricò M., Trizzino A., Izzi G., Bertolini P., Locatelli F., Zecca M., Rondini G., Marseglia G.L., Maccario R., Bossi G., Favre C., Consolini R., Vecchi V., Sacchini P., Rinaldi G., Ugazio A.G., Rossi P., Livadiotti S., Cancrini C., Finocchi A., Stabile A., Duse M., Iacobini M., Quinti I., Moschese V., Cecere F., Morgese G., Acquaviva A., De Zan G., Strafella S., Tamaro P., Rabusin M., Tovo P.A., Nespoli L., Marinoni M., Porcellini A., Cazzola G.A., Annarosa, Soresina, Renata, Nacinovich, Monica, Bomba, Morena, Cassani, Molinaro, Anna, Antonella, Sciotto, Silvana, Martino, Fabio, Cardinale, Domenico, Mattia, Caterina, Putti, Rosa Maria, Dellepiane, Leonardo, Felici, Giovanni, Parrinello, Francesca, Neri, Alessandro, Plebani, Soresina, A, Nacinovich, R, Bomba, M, Cassani, M, Molinaro, A, Sciotto, A, Martino, S, Cardinale, F, De Mattia, D, Putti, C, Dellepiane, R, Felici, L, Parrinello, G, Neri, F, Plebani, A, Soresina, A., Nacinovich, R., Bomba, M., Cassani, M., Molinaro, A., Sciotto, A., Martino, S., Cardinale, F., De Mattia, D., Putti, C., Dellepiane, R. M., Felici, L., Parrinello, G., Neri, F., Plebani, A., Pierani, P., Demattia, D., Martire, B., Armenio, L., Dammacco, F., Ranieri, G., Masi, M., Miniaci, A., Pession, A., Rondelli, R., Notarangelo, L. D., Cao, Cossu, F., Del Giacco, S., Manconi, P., Evangelista, I., Magro, S., Morgione, S., Strisciuglio, Pietro, Anastasio, E., Schillirò, G., Paganelli, R., Sticca, M., Sperlì, D., Carpino, L., Bernini, G., Azzari, C., Maggi, E., Romagnani, S., Matucci, A., Vultaggio, A., Castagnola, E., Gattorno, M., Presta, G., Civino, A., Gambaretto, G., Fasoli, S., Salpietro, C., Pietrogrande, M. C., Panisi, C., Cambiaghi, G., Pietrogrande, M., Roncarolo, M. G., Aiuti, A., Masera, G., Biondi, A., Sala, A., Pignata, Claudio, Poggi, V., Menna, G., Di Nardo, R., D'Apuzzo, A., Pelliccia, A., Correra, A., Marone, G., Spadaro, Giuseppe, Carli, M., Zanesco, L., Basso, G., Putti, M. C., Semenzato, G., Agostini, C., Amato, G. M., Aricò, M., Trizzino, A., Izzi, G., Bertolini, P., Locatelli, F., Zecca, M., Rondini, G., Marseglia, G. L., Maccario, R., Bossi, G., Favre, C., Consolini, R., Vecchi, V., Sacchini, P., Rinaldi, G., Ugazio, A. G., Rossi, P., Livadiotti, S., Cancrini, C., Finocchi, A., Stabile, A., Duse, M., Iacobini, M., Quinti, I., Moschese, V., Cecere, F., Morgese, G., Acquaviva, A., De Zan, G., Strafella, S., Tamaro, P., Rabusin, M., Tovo, P. A., Nespoli, L., Marinoni, M., Porcellini, A., and Cazzola, G. A.
Subjects: Male, Pediatrics, medicine.medical_specialty, x-linked agammaglobulinemia, Activities of daily living, Adolescent, X-linked agammaglobulinemia, Health Status, Immunology, pedsql 4.0 generic core scale, Quality of life, children, Agammaglobulinemia, Surveys and Questionnaires, Activities of Daily Living, health-related quality of life, parents, medicine, Humans, Immunology and Allergy, PedsQL 4.0 Generic Core Scale, Child, Settore MED/38 - Pediatria Generale e Specialistica, Health related quality of life, quality of live, business.industry, Immunoglobulins, Intravenous, Genetic Diseases, X-Linked, medicine.disease, Socioeconomic Factors, Child, Preschool, Mutation, Quality of Life, Female, X-linked agammaglobulinemia - children - parents - health-related quality of life - PedsQL 4.0 Generic Core Scale, business
Abstract: Introduction: The health-related quality of life in X-linked agammaglobulinemia was investigated in 25 children and adolescents patients through the Italian version of Pediatric Quality of Life Inventory 4.0 Generic Core Scale for patients aged less then 18 years, comparing child perception to that of the parents and the physician's evaluation. The data were compared with the ones of 80 healthy controls and the literature data of a group of patients with rheumatic diseases. Discussion: The agammaglobulinemia subjects perceived a lower global quality of life than the healthy subjects, but significantly higher than the rheumatic diseases controls. The clinical relevance of health-related quality of life assessment in X-linked agammaglobulinemia pediatric patients is discussed. © 2008 Springer Science+Business Media, LLC.
Published: 2009

14. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency

Author: Quinti, I, Soresina, A, Spadaro, G, Martino, S, Donnanno, S, Agostini, C, Claudio, P, Franco, D, Pesce, A, Borghese, F, Guerra, A, Rondelli, R, Plebani, A, De Mattia, D, Martire, B, Cossu, F, Schirillo, G, Castagnola, E, Pietrogrande, M, Delle Piane, R, Putti, C, Trizzino, A, Amato, G, Bertolini, P, Zecca, M, Consolini, R, Moschese, V, Rossi, P, Cancrini, C, Cazzola, G, Quinti, I, Soresina, A, Spadaro, Giuseppe, Martino, S, Donnanno, S, Agostini, C, Claudio, P, Franco, D, MARIA PESCE, A, Borghese, F, Guerra, A, Rondelli, R, Plebani, A, ITALIAN PRIMARY IMMUNODEFICIENCY, Network, SORESINA A., SPADARO G, Pignata, Claudio, and Plebani, A.
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, clinical features, Time Factors, Adolescent, common variable immunodeficiency, Immunology, Immunoglobulins, intravenous immunoglobulins, chronic lung disease, Autoimmune Diseases, Cohort Studies, Age Distribution, Neoplasms, medicine, Immunology and Allergy, Humans, pneumonia, Sinusitis, Prospective cohort study, Child, Preschool, mortality, Aged, Settore MED/38 - Pediatria Generale e Specialistica, Respiratory tract infections, business.industry, Common variable immunodeficiency, Chronic sinusitis, Middle Aged, medicine.disease, Surgery, Survival Rate, Pneumonia, Treatment Outcome, Child, Preschool, Common Variable Immunodeficiency, Female, Follow-Up Studies, Immunotherapy, Cohort, business, Cohort study
Abstract: Common Variable Immunodeficiency belongs to the group of rare diseases encompassing antibody deficiency syndromes of highly variable clinical presentation and outcome. The multicenter prospective study on a cohort of 224 patients with Common Variable Immunodeficiency provides an updated view of the spectrum of illnesses which occurred at the clinical onset and over a long period of follow-up (mean time: 11 years) and information on the effects of long-term immunoglobulin treatment. The mean age at the time of diagnosis was 26.6 years. Seventy-five patients were younger than 14 years of age. The mean age at the onset of symptoms was 16.9 years. This implicates with a mean diagnostic delay of 8.9 years. Respiratory tract infections were the most prominent clinical problem observed at diagnosis and during the follow-up. Intravenous immunoglobulin administration induced a significant reduction in the incidence of acute infections, mainly acute pneumonia and acute otitis. However, a progressive increase in the prevalence of patients with chronic diseases, mainly sinusitis and lung disease, was observed in all age groups, including the pediatric population. The morbidity of Common Variable Immunodeficiency due to all associated clinical conditions increased over time despite an adequate replacement with intravenous immunoglobulins. Our data stressed the need to develop international guidelines for the prevention and therapy of chronic lung disease, chronic sinusitis, chronic diarrhoea, and chronic granulomatosis in patients with humoral immunodeficiencies.
Published: 2007

15. Excess dietary sodium and inadequate potassium intake by hypertensive patients in Italy: results of the MINISAL-SIIA study program

Author: Galletti, F, Agabiti Rosei, E, Bernini, G, Boero, R, Desideri, G, Fallo, F, Mallamaci, F, Morganti, A, Castellano, M, Nazzaro, P, Trimarco, B, Strazzullo, P, Campanozzi, A, Carcea, M, Donfrancesco, C, Galeone, D, Giampaoli, S, Iacoviello, L, Scalfi, L, Siani, A, Modesti, S, Parini, U, Pascale, C, Bosio, A, Cerrato, F, Pallisco, O, Massara, C, Veglio, Franco, Rabbia, F, Testa, E, Musso, N, Martino, S, Artom, A, Pirola, I, Parati, G, Lonati, Lm, Cuspidi, C, Sala, C, Rescaldani, M, Gidaro, B, Lonati, C, Grandi, A, Maresca, Am, Merletti, L, Garavelli, G, Pini, C, Crippa, M, Lazzari, F, Ronchi, E, Gaudio, G, Caló, La, Caielli, P, Rossi, G, Sechi, La, Marzano, L, Catena, C, Ungar, A, Giovannetti, R, Cipollini, F, Arcangeli, E, Borgheresi, P, Panichi, V, Rossi, E, Borghi, C, Veronesi, M, Biggi, A, Musiari, L, Montanari, A, Caiazza, A, Meschi, M, Sarzani, R, Giacchetti, G, Schillaci, G, Pucci, G, Ferri, C, Mezzetti, A, Rinaldi, Po, De Luca, N, Barbato, A, Fazio, V, D'Avino, M, Guglielmi, M, De Giorgi GA, Del Giudice, A, Belfiore, A, Barbiero, M, Murri, A, Nardecchia, A, De Pergola, G, Silvestris, F, Vinella, L, Leonardis, D, Malatino, L, Stancanelli, B, Cilia, C., Galletti, F, Agabiti-Rosei, E, Bernini, G, Boero, R, Desideri, G, Fallo, F, Mallamaci, F, Morganti, A, Castellano, M, Nazzaro, P, Trimarco, B, Strazzullo, P, Borghi, C, and Veronesi, M
Subjects: Adult, Male, medicine.medical_specialty, Potassium intake, Physiology, Potassium, Sodium, chemistry.chemical_element, Blood Pressure, Nutrition Policy, Young Adult, Dietary Sodium, Internal medicine, Internal Medicine, medicine, salt, Humans, Blood pressure, Diet, Hypertension, Aged, business.industry, hypertension, Potassium, Dietary, Sodium, Dietary, Anthropometry, Middle Aged, Endocrinology, chemistry, Italy, Female, Cardiology and Cardiovascular Medicine, business
Abstract: INTRODUCTION:The aim of the study was to assess the age-specific, sex-specific, and region-specific average sodium and potassium intake and its association with anthropometric characteristics in a sample of the Italian adult hypertensive population. METHODS:A total of 1232 hypertensive patients were recruited consecutively by 47 centers recognized by the Italian Society of Hypertension. The enrolled participants were on stable antihypertensive treatment. Anthropometric indices, blood pressure, 24-h urinary sodium, and potassium excretion were measured and used as proxy for the average daily sodium and potassium intake. RESULTS:The average sodium intake was 172 mmol (or 10.1 g of salt/day) among men and 138 (or 8.1) among women, with no difference among geographical areas. Over 90% of men and 81% of women had a consumption higher than the recommended standard dietary intake of 5 g/day. The average potassium intake was 63 and 56 mmol, respectively in men and women, again without geographical differences, nearly 92% of men and 95% of women having an intake lower than the recommended intake (100 mmol/day or 3.9 g/day). There was a significant trend to a gradual decrease in sodium intake with age in both sexes (P
Published: 2013

16. Effect of radiotherapy after breast-conserving surgery on 10-year recurrence and 15-year breast cancer death: meta-analysis of individual patient data for 10,801 women in 17 randomised trials

Author: EARLY BREAST CANCER TRIALISTS' COLLABORATIVE GROUP (EBCTCG), Darby, S., Mcgale, P., Correa, C., Taylor, C., Arriagada, R., Clarke, M., Cutter, D., Davies, C., Ewertz, M., Godwin, J., Gray, R., Pierce, L., Whelan, T., Wang, Y., Peto, R., Albain, K, Anderson, S, Arriagada, R, Barlow, W, Bergh, J, Bliss, J, Buyse, M, Cameron, D, Carrasco, E, Clarke, M, Correa, C, Coates, A, Collins, R, Costantino, J, Cutter, D, Cuzick, J, Darby, S, Davidson, N, Davies, C, Davies, K, Delmestri, A, Di Leo, A, Dowsett, M, Elphinstone, P, Evans, V, Ewertz, M, Gelber, R, Gettins, L, Geyer, C, Goldhirsch, A, Godwin, J, Gray, R, Gregory, C, Hayes, D, Hill, C, Ingle, J, Jakesz, R, James, S, Kaufmann, M, Kerr, A, Mackinnon, E, Mcgale, P, Mchugh, T, Norton, L, Ohashi, Y, Paik, S, Pan, Hc, Perez, E, Peto, R, Piccart, M, Pierce, L, Pritchard, K, Pruneri, G, Raina, V, Ravdin, P, Robertson, J, Rutgers, E, Shao, Yf, Swain, S, Taylor, C, Valagussa, P, Viale, G, Whelan, T, Winer, E, Wang, Y, Wood, W, Abe, O, Abe, R, Enomoto, K, Kikuchi, K, Koyama, H, Masuda, H, Nomura, Y, Sakai, K, Sugimachi, K, Toi, M, Tominaga, T, Uchino, J, Yoshida, M, Haybittle, Jl, Leonard, Cf, Calais, G, Geraud, P, Collett, V, Sayer, J, Harvey, Vj, Holdaway, Im, Kay, Rg, Mason, Bh, Forbes, Jf, Wilcken, N, Bartsch, R, Dubsky, P, Fesl, C, Fohler, H, Gnant, M, Greil, R, Lang, A, Luschin-Ebengreuth, G, Marth, C, Mlineritsch, B, Samonigg, H, Singer, Cf, Steger, Gg, Stöger, H, Canney, P, Yosef, Hm, Focan, C, Peek, U, Oates, Gd, Powell, J, Durand, M, Mauriac, L, Dolci, S, Larsimont, D, Nogaret, Jm, Philippson, C, Piccart, Mj, Masood, Mb, Parker, D, Price, Jj, Lindsay, Ma, Mackey, J, Martin, M, Hupperets, Ps, Bates, T, Blamey, Rw, Chetty, U, Ellis, Io, Mallon, E, Morgan, Da, Patnick, J, Pinder, S, Olivotto, I, Ragaz, J, Berry, D, Broadwater, G, Cirrincione, C, Muss, H, Weiss, Rb, Abu-Zahra, Ht, Portnoj, Sm, Bowden, S, Brookes, C, Dunn, J, Fernando, I, Lee, M, Poole, C, Rea, D, Spooner, D, Barrett-Lee, Pj, Mansel, Re, Monypenny, Ij, Gordon, Nh, Davis, Hl, Lehingue, Y, Romestaing, P, Dubois, Jb, Delozier, T, Griffon, B, Mace Lesec'h, J, Rambert, P, Mustacchi, G, Petruzelka, Pribylova, O, Owen, Jr, Harbeck, N, Jänicke, F, Meisner, C, Schmitt, M, Thomssen, C, Meier, P, Shan, Y, Wang, X, Zhao, Db, Chen, Zm, Howell, A, Swindell, R, Burrett, Ja, Hermans, D, Hicks, C, Lay, M, Albano, J, de Oliveira CF, Gervásio, H, Gordilho, J, Johansen, H, Mouridsen, Ht, Gelman, Rs, Harris, Jr, Henderson, C, Shapiro, Cl, Christiansen, P, Ejlertsen, B, Jensen, Mb, Møller, S, Carstensen, B, Palshof, T, Trampisch, Hj, Dalesio, O, de Vries EG, Rodenhuis, S, van Tinteren, H, Comis, Rl, Davidson, Ne, Robert, N, Sledge, G, Solin, Lj, Sparano, Ja, Tormey, Dc, Dixon, Jm, Forrest, P, Jack, W, Kunkler, I, Rossbach, J, Klijn, Jg, Treurniet-Donker, Ad, van Putten WL, Rotmensz, N, Veronesi, U, Bartelink, H, Bijker, N, Bogaerts, J, Cardoso, F, Cufer, T, Julien, Jp, van de Velde CJ, Cunningham, Mp, Huovinen, R, Joensuu, H, Costa, A, Tinterri, C, Bonadonna, G, Gianni, L, Goldstein, Lj, Bonneterre, J, Fargeot, P, Fumoleau, P, Kerbrat, P, Luporsi, E, Namer, M, Eiermann, W, Hilfrich, J, Jonat, W, Kreienberg, R, Schumacher, M, Bastert, G, Rauschecker, H, Sauer, R, Sauerbrei, W, Schauer, A, Blohmer, Ju, Costa, Sd, Eidtmann, H, Gerber, G, Jackisch, C, Loibl, S, von Minckwitz, G, de Schryver, A, Vakaet, L, Belfiglio, M, Nicolucci, A, Pellegrini, F, Pirozzoli, Mc, Sacco, M, Valentini, M, Mcardle, Cs, Smith, Dc, Stallard, S, Dent, Dm, Gudgeon, Ca, Hacking, A, Murray, E, Panieri, E, Werner, Id, Segui, Ma, Galligioni, E, Lopez, M, Erazo, A, Medina, Jy, Horiguchi, J, Takei, H, Fentiman, Is, Hayward, Jl, Rubens, Rd, Skilton, D, Scheurlen, H, Sohn, Hc, Untch, M, Dafni, U, Markopoulos, C, Dafni, D, Fountzilas, G, Mavroudis, D, Klefstrom, P, Saarto, T, Gallen, M, Margreiter, R, de Lafontan, B, Mihura, J, Roché, H, Asselain, B, Salmon, Rj, Vilcoq, Jr, Bourgier, C, Koscielny, S, Laplanche, A, Lê, Mg, Spielmann, M, A'Hern, R, Ellis, P, Kilburn, L, Yarnold, Jr, Benraadt, J, Kooi, M, van de Velde AO, van Dongen JA, Vermorken, Jb, Castiglione, M, Colleoni, M, Collins, J, Forbes, J, Gelber, Rd, Lindtner, J, Price, Kn, Regan, Mm, Rudenstam, Cm, Senn, Hj, Thuerlimann, B, Bliss, Jm, Chilvers, Ce, Coombes, Rc, Hall, E, Marty, M, Possinger, K, Schmid, P, Wallwiener, D, Foster, L, George, Wd, Stewart, Hj, Stroner, P, Borovik, R, Hayat, H, Inbar, Mj, Robinson, E, Bruzzi, P, Del Mastro, L, Pronzato, P, Sertoli, Mr, Venturini, M, Camerini, T, De Palo, G, Di Mauro MG, Formelli, F, Amadori, D, Martoni, A, Pannuti, F, Camisa, R, Cocconi, G, Colozza, A, Passalacqua, R, Aogi, K, Takashima, S, Ikeda, T, Inokuchi, K, Sawa, K, Sonoo, H, Korzeniowski, S, Skolyszewski, J, Ogawa, M, Yamashita, J, Bastiaannet, E, van de Water, W, van Nes JG, Christiaens, R, Neven, P, Paridaens, R, Van den Bogaert, W, Braun, S, Janni, W, Martin, P, Romain, S, Janauer, M, Seifert, M, Sevelda, P, Zielinski, Cc, Hakes, T, Hudis, Ca, Wittes, R, Giokas, G, Kondylis, D, Lissaios, B, de la Huerta, R, Sainz, Mg, Altemus, R, Camphausen, K, Cowan, K, Danforth, D, Lichter, A, Lippman, M, O'Shaughnessy, J, Pierce, Lj, Steinberg, S, Venzon, D, Zujewski, Ja, D'Amico, C, Lioce, M, Paradiso, A, Chapman, Ja, Gelmon, K, Goss, Pe, Levine, Mn, Meyer, R, Parulekar, W, Pater, Jl, Pritchard, Ki, Shepherd, Le, Tu, D, Ohno, S, Anderson, A, Bass, G, Brown, A, Bryant, J, Dignam, J, Fisher, B, Mamounas, Ep, Redmond, C, Wickerham, L, Wolmark, N, Baum, M, Jackson, Im, Palmer, Mk, Ingle, Jn, Suman, Vj, Bengtsson, No, Emdin, S, Jonsson, H, Lythgoe, Jp, Kissin, M, Erikstein, B, Hannisdal, E, Jacobsen, Ab, Varhaug, Je, Gundersen, S, Hauer-Jensen, M, Høst, H, Nissen-Meyer, R, Mitchell, Ak, Robertson, Jf, Ueo, H, Di Palma, M, Mathé, G, Misset, Jl, Levine, M, Morimoto, K, Takatsuka, Y, Crossley, E, Harris, A, Talbot, D, Taylor, M, Martin, Al, di Blasio, B, Ivanov, V, Paltuev, R, Semiglazov, V, Brockschmidt, J, Cooper, Mr, Falkson, Ci, Ashley, S, Makris, A, Powles, Tj, Smith, Ie, Gazet, Jc, Browne, L, Graham, P, Corcoran, N, Deshpande, N, di Martino, L, Douglas, P, Lindtner, A, Notter, G, Bryant, Aj, Ewing, Gh, Firth, La, Krushen-Kosloski, Jl, Anderson, H, Killander, F, Malmström, P, Rydén, L, Arnesson, Lg, Carstensen, J, Dufmats, M, Fohlin, H, Nordenskjöld, B, Söderberg, M, Carpenter, Jt, Murray, N, Royle, Gt, Simmonds, Pd, Crowley, J, Gralow, J, Green, S, Hortobagyi, G, Livingston, R, Martino, S, Osborne, Ck, Adolfsson, J, Bondesson, T, Celebioglu, F, Dahlberg, K, Fornander, T, Fredriksson, I, Frisell, J, Göransson, E, Iiristo, M, Johansson, U, Lenner, E, Löfgren, L, Nikolaidis, P, Perbeck, L, Rotstein, S, Sandelin, K, Skoog, L, Svane, G, af Trampe, E, Wadström, C, Maibach, R, Thürlimann, B, Hakama, M, Holli, K, Isola, J, Rouhento, K, Saaristo, R, Brenner, H, Hercbergs, A, Yoshimoto, M, Paterson, Ah, Fyles, A, Meakin, Jw, Panzarella, T, Bahi, J, Reid, M, Spittle, M, Bishop, H, Bundred, Nj, Forsyth, S, Pinder, Se, Sestak, I, Deutsch, Gp, Kwong, Dl, Pai, Vr, Senanayake, F, Boccardo, F, Rubagotti, A, Hackshaw, A, Houghton, J, Ledermann, J, Monson, K, Tobias, Js, Carlomagno, C, De Laurentiis, M, De Placido, S, Williams, L, Broglio, K, Buzdar, Au, Love, Rr, Ahlgren, J, Garmo, H, Holmberg, L, Liljegren, G, Lindman, H, Wärnberg, F, Asmar, L, Jones, Se, Gluz, O, Liedtke, C, Nitz, U, Litton, A, Wallgren, A, Karlsson, P, Linderholm, Bk, Chlebowski, Rt, Caffier, H, Mcgale, P, Correa, C, Taylor, C, Arriagada, R, Clarke, M, Cutter, D, Davies, C, Ewertz, M, Godwin, J, Gray, R, Pierce, L, Whelan, T, Wang, Y, Peto, R, Early Breast Cancer Trialists' Collaborative, Group, DE LAURENTIIS, Michelino, DE PLACIDO, Sabino, Carlomagno, Chiara, Darby, S, McGale, P, Interne Geneeskunde, RS: GROW - School for Oncology and Reproduction, Other departments, CCA -Cancer Center Amsterdam, and Radiotherapy
Subjects: Oncology, medicine.medical_specialty, Neoplasm Recurrence, Local - epidemiology, medicine.medical_treatment, Population, Breast Neoplasms, Mastectomy, Segmental, Breast cancer, breast cancer, Internal medicine, medicine, Breast-conserving surgery, Humans, education, skin and connective tissue diseases, radiotherapy, Randomized Controlled Trials as Topic, education.field_of_study, business.industry, Estrogen Antagonists - therapeutic use, Mortality rate, Age Factors, Estrogen Antagonists, General Medicine, Breast Neoplasms - mortality - therapy, medicine.disease, Surgery, Unilateral Breast Neoplasms, Radiation therapy, Clinical trial, meta-analysis, Tamoxifen, Receptors, Estrogen, Lymphatic Metastasis, Female, Radiotherapy, Adjuvant, Neoplasm Grading, Neoplasm Recurrence, Local, business, Mastectomy
Abstract: BACKGROUND: After breast-conserving surgery, radiotherapy reduces recurrence and breast cancer death, but it may do so more for some groups of women than for others. We describe the absolute magnitude of these reductions according to various prognostic and other patient characteristics, and relate the absolute reduction in 15-year risk of breast cancer death to the absolute reduction in 10-year recurrence risk. METHODS: We undertook a meta-analysis of individual patient data for 10,801 women in 17 randomised trials of radiotherapy versus no radiotherapy after breast-conserving surgery, 8337 of whom had pathologically confirmed node-negative (pN0) or node-positive (pN+) disease. FINDINGS: Overall, radiotherapy reduced the 10-year risk of any (ie, locoregional or distant) first recurrence from 35.0% to 19.3% (absolute reduction 15.7%, 95% CI 13.7-17.7, 2p/=20%), intermediate (10-19%), or lower (, link_to_OA_fulltext
Published: 2011
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17. Will Molecular Biology Contribute to Refine Prognosis and to Select Treatment?

Author: Zaccaria, A, Martinelli, G, Buzzi, M, Farabegoli, P, Saglio, G, Guerrasio, A, Bernabei, P, Santini, V, Pellicci, P, Mencarelli, A, Coco, F, Diverio, D, Rambaldi, A, Santoro, A, Tura, S, Russo, D, Zuffa, E, Fanin, R, Patriarca, F, Fiacchini, M, Baccarani, M, Testoni, N, Zamagni, M, Montefusco, E, Alimena, G, Meloni, G, Mandelli, F, Damiani, D, Michieli, M, Criscuolo, D, Fowst, C, Holdener, E, Specchia, G, Liso, V, Morra, E, Bernasconi, C, Demilio, A, Battista, R, Ditucci, A, Broccia, G, Maiolino, I, Caronia, F, Luciano, L, Rotoli, B, Leoni, P, Danieli, G, Bodenizza, C, Carotenuto, M, Rotondo, S, Nosari, A, Decataldo, F, Montuoro, A, Delaurenzi, A, Camillo, S, Liberati, A, Grignani, F, Tabilio, A, Martelli, M, Barbui, T, Leoni, F, Ciolli, S, Ronca, F, Nobile, F, Paolino, F, Resegotti, L, Papineschi, F, Spremolla, G, Landolfi, R, Leone, G, Volpe, E, Mangoni, L, Rizzoli, V, Capucci, A, Izzi, T, Scapoli, G, Castoldi, G, Gentilini, I, Coser, P, Gallo, E, Pileri, A, Cantonetti, M, Papa, G, Dini, D, Morandi, S, Bianchini, E, Pinotti, G, Venco, A, Zagonel, V, Pinto, A, Capaldi, A, Giovannelli, E, Pizzuti, M, Ricciuti, F, Ambrosetti, A, Cajozzo, A, Lombardo, M, Torlontano, G, Delfini, C, Lucarelli, G, Girino, M, Ascari, E, Risso, M, Damasio, E, Martino, S, Pardini, S, Longinotti, M, Miraglia, E, Debiase, R, Nardelli, S, Galieni, P, Dispensa, E, Abbadessa, A, Bruzzese, L, Prossomariti, L, Cimino, R, Derosa, C, Gabbas, A, Francesco, S, Gallamini, A, Difrancesco, A, Quaglino, D, Musolino, C, Squadrito, G, Avanzini, P, Gobbi, F, Nuova, A, Emilia, R, Aglietta, M, Camaschella, C, Mazza, M, Guglielmo, P, Cacciola, E, and Monaco, M
Subjects: INTERFERON, CHRONIC MYELOID LEUKEMIA, Cancer Research, PROGNOSIS, biology, Settore MED/06 - Oncologia Medica, business.industry, MOLECULAR BIOLOGY, Breakpoint, Transcript analysis, Hematology, HindIII, Bioinformatics, Restriction site, Text mining, Oncology, Risk index, biology.protein, Medicine, In patient, business, Settore MED/15 - Malattie del Sangue, Southern blot
Abstract: The possible prognostic value of the position of the breakpoint within the M-BCR in patients with Phl+ CML is still being debated. We analyzed the DNA rearrangements and the transcript types of 244 patients and tried to correlate the data obtained with prognostic features, defined according to Sokal's risk index, and with chronic phase and/or survival duration. The exact location of the breakpoint, either 5' or 3' to the Hind III restriction site within the M-BCR was identified. Moreover, the exact M-BCR subregion was also identified. As a whole, 150 pts were rearranged in the 5' part and 94 in the 3' part of the M-BCR. No correlation was observed between the site of rearrangement on the one hand and the Sokal's prognostic index and survival, on the other. Transcript analysis was performed in 130 patients; 59 carried an a2b2 and 69 an a2b3 pattern. Two patients carried both transcripts. Of the patients rearranged in the 5' area, according to Southern blotting, 29.2% showed an a2b3 transcript. Therefore, R...
Published: 1993
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18. Effectiveness of cardiac resynchronization therapy in heart failure patients with valvular heart disease: comparison with patients affected by ischaemic heart disease or dilated cardiomyopathy. The InSync/InSync ICD Italian Registry

Author: Boriani, G, Gasparini, M, Landolina, M, Lunati, M, Biffi, M, Santini, M, Padeletti, L, Molon, G, Botto, G, De Santo, T, Valsecchi, S, Galimberti, P, Regoli, F, Ceriotti, C, Cattafi, G, Magenta, G, Paolucci, M, Vecchi, R, Ricci, R, Gaita, F, Bocchiardo, M, Didonna, P, Caponi, D, Tavazzi, L, Rordorf, R, Petracci, B, Vicentini, A, Savastano, S, Matteo, Ps, Pieragnoli, P, Vincenti, A, Deceglia, S, Ciró, A, Gerardo Dei Tintori, S, Curnis, A, Mascioli, G, Puglisi, A, Bianchi, S, Peraldo, C, Sassara, M, Achilli, A, Turreni, F, Rossi, P, Perego, Gb, Ravazzi, Pa, Diotallevi, P, Antonio, e Biagio SS, Tritto, M, Carboni, A, Ardissino, D, Gonzi, G, Serra, V, Vergara, G, Maria Del Carmine, S, Martignani, C, Frabetti, L, Orsola-Mailpighi, S, Luzzi, G, Laurenzi, F, Camillo, S, Pistis, G, Cesario, A, Grassi, Gb, Zanotto, G, Orazi, S, Ometto, R, Bonanno, C, Bortolo, S, Barbieri, E, Cuore, S, Raviele, A, Gasparini, G, Luzi, M, Sagone, A, Anna, S, Vado, A, Croce, S, Montenero, A, Giovanni, Ss, Inama, G, Sassone, B, Briedda, M, Zardo, F, Maria, S, Bertaglia, E, Proclemer, A, Zanon, F, Disertori, M, Gramegna, L, Delgreco, M, Dallafior, D, Chiara, S, Tomasi, C, Maresta, A, Piancastelli, M, Maria Croci, S, Bridda, A, Martino, S, Mantovan, R, Fusco, A, Baraldi, P, Agostino, S, Lonardi, G, Rahue, W, Maurizio, S, Delise, P, Menozzi, C, Marianuova, S, Babudri, P, Marconi, R, Defabrizio, G, Alfano, F, Moscati, G, Barbato, G, Gelmini, P, Disabato, Leopoldo, S, Ricci, S, Aulerio, Md, Biagio, S, Morgagni, Gl, Latini, R, Bardelli, G, Paulichl, R, Tappeiner Merano, F, Bernasconi, M, Marzegalli, M, Carlo, S, Neri, G, Occhetta, E, Bocconcelli, P, Salvatore, S, Capucci, A, Campana, A, Giovanni, S, Dibelardino, N, Vaglio, A, Boriani G, Gasparini M, Landolina M, Lunati M, Biffi M, Santini M, Padeletti L, Molon G, Botto G, De Santo T, and Valsecchi S
Subjects: Cardiomyopathy, Dilated, Male, medicine.medical_specialty, Pacemaker, Artificial, medicine.medical_treatment, Cardiac resynchronization therapy, Cardiomyopathy, Heart Valve Diseases, Myocardial Ischemia, Socio-culturale, Heart failure, Aged, Atrial Fibrillation, Defibrillators, Implantable, Female, Heart Failure, Humans, Middle Aged, Registries, Treatment Outcome, Ventricular Remodeling, Cardiac Pacing, Artificial, Clinical Research, Internal medicine, medicine, cardiovascular diseases, Remodelling, Valvular heart disease, Heart transplantation, Ejection fraction, business.industry, valvular heart disease, Atrial fibrillation, Dilated cardiomyopathy, medicine.disease, Cardiology, cardiovascular system, Cardiology and Cardiovascular Medicine, business
Abstract: Aims To analyse the effectiveness of cardiac resynchronization therapy (CRT) in patients with valvular heart disease (a subset not specifically investigated in randomized controlled trials) in comparison with ischaemic heart disease or dilated cardiomyopathy patients. Methods and results Patients enrolled in a national registry were evaluated during a median follow-up of 16 months after CRT implant. Patients with valvular heart disease treated with CRT ( n = 108) in comparison with ischaemic heart disease ( n = 737) and dilated cardiomyopathy ( n = 635) patients presented: (i) a higher prevalence of chronic atrial fibrillation, with atrioventricular node ablation performed in around half of the cases; (ii) a similar clinical and echocardiographic profile at baseline; (iii) a similar improvement of LVEF and a similar reduction in ventricular volumes at 6–12 months; (iv) a favourable clinical response at 12 months with an improvement of the clinical composite score similar to that occurring in patients with dilated cardiomyopathy and more pronounced than that observed in patients with ischaemic heart disease; (v) a long-term outcome, in term of freedom from death or heart transplantation, similar to patients affected by ischaemic heart disease and basically more severe than that of patients affected by dilated cardiomyopathy. Conclusion In ‘real world’ clinical practice, CRT appears to be effective also in patients with valvular heart disease. However, in this group of patients the outcome after CRT does not precisely overlap any of the two other groups of patients, for which much more data are currently available.
Published: 2009

19. Effects of chemotherapy and hormonal therapy for early breast cancer on recurrence and 15-year survival: an overview of the randomised trials

Author: EBCTCG, Abe, O., Abe, R., Enomoto, K., Kikuchi, K., Koyama, H., Masuda, H., Nomura, Y., Sakai, K., Sugimachi, K., Tominaga, T., Uchino, J., Yoshida, M., Haybittle, Jl, Davies, C., Harvey, Vj, Holdaway, Tm, Kay, Rg, Mason, Bh, Forbes, Jf, Wilcken, N., Gnant, M., Jakesz, R., Ploner, M., Yosef, Hma, Focan, C., Lobelle, Jp, Peek, U., Oates, Gd, Powell, J., Durand, M., Mauriac, L., Di Leo, A., Dolci, S., Piccart, Mj, Masood, Mb, Parker, D., Price, Jj, Hupperets, Psgj, Jackson, S., Ragaz, J., Berry, D., Broadwater, G., Cirrincione, C., Muss, H., Norton, L., Weiss, Rb, Abu-Zahra, Ht, Portnoj, Sm, Baum, M., Cuzick, J., Houghton, J., Riley, D., Gordon, Nh, Davis, Hl, Beatrice, A., Mihura, J., Naja, A., Lehingue, Y., Romestaing, P., Dubois, Jb, Delozier, T., Mace-Lesec H, J., Rambert, P., Andrysek, O., Barkmanova, J., Owen, Jr, Meier, P., Howell, A., Ribeiro, Gc, Swindell, R., Alison, R., Boreham, J., Clarke, M., Collins, R., Darby, S., Elphinstone, P., Evans, V., Godwin, J., Gray, R., Harwood, C., Hicks, C., James, S., Mackinnon, E., Mcgale, P., Mchugh, T., Mead, G., Peto, R., Wang, Y., Albano, J., Oliveira, Cf, Gervasio, H., Gordilho, J., Johansen, H., Mouridsen, Ht, Gelman, Rs, Harris, Jr, Henderson, Ic, Shapiro, Cl, Andersen, Kw, Axelsson, Ck, Blichert-Toft, M., Moller, S., Overgaard, J., Overgaard, M., Rose, C., Cartensen, B., Palshof, T., Trampisch, Hj, Dalesio, O., Vries, Ege, Rodenhuis, S., Tinteren, H., Comis, Rl, Davidson, Ne, Robert, N., Sledge, G., Tormey, Dc, Wood, W., Cameron, D., Chetty, U., Forrest, P., Jack, W., Rossbach, J., Klijn, Jgm, Treurniet-Donker, Ad, Putten, Wlj, Costa, A., Veronesi, U., Bartelink, H., Duchateau, L., Legrand, C., Sylvester, R., Hage, Ja, Velde, Cjh, Cunningham, Mp, Catalano, R., Creech, Rh, Bonneterre, J., Fargeot, P., Fumoleau, P., Kerbrat, P., Namer, M., Jonat, W., Kaufmann, M., Schumacher, M., Minckwitz, G., Bastert, G., Rauschecker, H., Sauer, R., Sauerbrei, W., Schauer, A., Schryver, A., Vakaet, L., Belfiglio, M., Nicolucci, A., Pellegrini, F., Sacco, M., Valentini, M., Mcardle, Cs, Smith, Dc, Galligioni, E., Boccardo, F., Rubagotti, A., Dent, Dm, Gudgeon, Ca, Hacking, A., Erazo, A., Medina, Jy, Izuo, M., Morishita, Y., Takei, H., Fentiman, Is, Hayward, Jl, Rubens, Rd, Skilton, D., Graeff, H., Janicke, F., Meisner, C., Scheurlen, H., Fournier, D., Dafni, U., Fountzilas, G., Klefstrom, P., Blomqvist, C., Saarto, T., Margreiter, R., Asselain, B., Salmon, Rj, Vilcoq, Jr, Rodrigo Arriagada, Hill, C., Laplanche, A., Le, Mg, Spielmann, M., Bruzzi, P., Montanaro, E., Rosso, R., Sertoli, MR, Venturini, M., Amadori, D., Benraadt, J., Kooi, M., Velde, Ao, Dongen, Ja, Vermorken, Jb, Castiglione, M., Cavalli, F., Coates, A., Collins, J., Forbes, J., Gelber, Rd, Goldhirsch, A., Lindtner, J., Price, Kn, Rudenstam, Cm, Senn, Hj, Bliss, Jm, Chilvers, Ced, Coombes, Rc, Hall, E., Marty, M., Borovik, R., Brufman, G., Hayat, H., Robinson, E., Wigler, N., Bonadonna, G., Camerini, T., Palo, G., Del Vecchio, M., Formelli, F., Valagussa, P., Martoni, A., Pannuti, F., Cocconi, G., Colozza, A., Camisa, R., Aogi, K., Takashima, S., Ikeda, T., Inokuchi, K., Sawa, K., Sonoo, H., Korzeniowski, S., Skolyszewski, J., Ogawa, M., Yamashita, J., Bonte, J., Christiaens, R., Paridaens, R., Den Boegart, W., Martin, P., Romain, S., Hakes, T., Hudis, Ca, Wittes, R., Giokas, G., Kondylis, D., Lissaios, B., La Huerta, R., Sainz, Mg, Altemus, R., Cowan, K., Danforth, D., Lichter, A., Lippman, M., O Shaughnessy, J., Pierce, Lj, Steinberg, S., Venzon, D., Zujewski, J., Paradiso, A., Lena, M., Schittulli, F., Myles, Jd, Pater, Jl, Pritchard, Ki, Anderson, S., Bass, G., Brown, A., Bryant, J., Costantino, J., Dignam, J., Fisher, B., Redmond, C., Wieand, S., Wolmark, N., Jackson, Im, Palmer, Mk, Ingle, Jn, Suman, Vj, Bengtsson, No, Jonsson, H., Larsson, Lg, Lythgoe, Jp, Kissin, M., Erikstein, B., Hannisdal, E., Jacobsen, Ab, Varhaug, Je, Gundersen, S., Hauer-Jensen, M., Host, H., Nissen-Meyer, R., Blamey, Rw, Mitchell, Ak, Morgan, Dal, Robertson, Jfr, Di Palma, M., Mathe, G., Misset, Jl, Clark, Rm, Levine, M., Morimoto, K., Takatsuka, Y., Crossley, E., Harris, A., Talbot, D., Taylor, M., Di Blasio, B., Ivanov, V., Semiglazov, V., Brockschmidt, J., Cooper, MR, Ueo, H., Falkson, Ci, A Hern, R., Ashley, S., Powles, Tj, Smith, Ie, Yarnold, Jr, Gazet, Jc, Cocoran, N., Deshpande, N., Di Martino, L., Douglas, P., Lindtner, A., Notter, G., Bryant, Ajs, Ewing, Gh, Firth, La, Krushen-Kosloski, Jl, Foster, L., George, Wd, Stewart, Hj, Stroner, P., Malmstrom, P., Moller, Tr, Ryden, S., Tengrup, I., Tennvall-Nittby, L., Carstenssen, J., Dufmats, M., Hatschek, T., Nordenskjold, B., Soderberg, M., Carpenter, Jt, Albain, K., Crowley, J., Green, S., Martino, S., Osborne, Ck, Ravdin, Pm, Glas, U., Johansson, U., Rutqvist, Le, Singnomklao, T., Wallgren, A., Maibach, R., Thurlimann, B., Brenner, H., Hercbergs, A., Yoshimoto, M., Deboer, G., Paterson, Ahg, Meakin, Jw, Panzarella, T., Shan, Y., Shao, Yf, Wang, X., Zhao, Db, Chen, Zm, Pan, Hc, Bahi, J., Reid, M., Spittle, M., Deutsch, Gp, Senanayake, F., Kwong, Dlw, Bianco, Ar, Carlomagno, C., Laurentiis, M., Placido, S., Buzdar, Au, Smith, T., Bergh, J., Holmberg, L., Liljegren, G., Nilsson, J., Seifert, M., Sevelda, P., Zielinsky, Cc, Buchanan, Rb, Cross, M., Royle, Gt, Dunn, Ja, Hills, Rk, Lee, M., Morrison, Jm, Spooner, D., Litton, A., Chlebowski, Rt, Caffier, H., Faculteit Medische Wetenschappen/UMCG, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Early Breast Cancer Trialists' Collaborative, Group, DE LAURENTIIS, Michelino, and DE PLACIDO, Sabino
Subjects: Oncology, medicine.medical_specialty, Antineoplastic Agents, Hormonal, DEATHS, Ovariectomy, Antineoplastic Agents, Breast Neoplasms, Aged, Anthracyclines, Antineoplastic Combined Chemotherapy Protocols, Cause of Death, Chemotherapy, Adjuvant, Female, Humans, Middle Aged, Neoplasm Metastasis, Neoplasm Recurrence, Local, Ovary, Randomized Controlled Trials as Topic, Receptors, Estrogen, Survival Rate, Tamoxifen, Medicine (all), Breast cancer, MammaPrint, Internal medicine, Receptors, medicine, Chemotherapy, TAMOXIFEN, skin and connective tissue diseases, Survival rate, Adjuvant, Gynecology, Hormonal, medicine.diagnostic_test, Oncotype DX Breast Cancer Assay, business.industry, General Medicine, medicine.disease, Estrogen, Neoplasm Recurrence, Local, Hormonal therapy, Oncotype DX, business, medicine.drug, Epirubicin
Abstract: Background Quinquennial overviews (1985–2000) of the randomised trials in early breast cancer have assessed the 5 year and 10-year effects of various systemic adjuvant therapies on breast cancer recurrence and survival. Here, we report the 10-year and 15-year effects. Methods Collaborative meta-analyses were undertaken of 194 unconfounded randomised trials of adjuvant chemotherapy or hormonal therapy that began by 1995. Many trials involved CMF (cyclophosphamide, methotrexate, fluorouracil), anthracycline-based combinations such as FAC (fluorouracil, doxorubicin, cyclophosphamide) or FEC (fluorouracil, epirubicin, cyclophosphamide), tamoxifen, or ovarian suppression: none involved taxanes, trastuzumab, raloxifene, or modern aromatase inhibitors. Findings Allocation to about 6 months of anthracycline-based polychemotherapy (eg, with FAC or FEC) reduces the annual breast cancer death rate by about 38% (SE 5) for women younger than 50 years of age when diagnosed and by about 20% (SE 4) for those of age 50–69 years when diagnosed, largely irrespective of the use of tamoxifen and of oestrogen receptor (ER) status, nodal status, or other tumour characteristics. Such regimens are significantly (2p=0·0001 for recurrence, 2p For ER-positive disease only, allocation to about 5 years of adjuvant tamoxifen reduces the annual breast cancer death rate by 31% (SE 3), largely irrespective of the use of chemotherapy and of age ( These results combine six meta-analyses: anthracycline-based versus no chemotherapy (8000 women); CMF-based versus no chemotherapy (14 000); anthracycline-based versus CMF-based chemotherapy (14 000); about 5 years of tamoxifen versus none (15 000); about 1–2 years of tamoxifen versus none (33 000); and about 5 years versus 1–2 years of tamoxifen (18 000). Finally, allocation to ovarian ablation or suppression (8000 women) also significantly reduces breast cancer mortality, but appears to do so only in the absence of other systemic treatments. For middle-aged women with ER-positive disease (the commonest type of breast cancer), the breast cancer mortality rate throughout the next 15 years would be approximately halved by 6 months of anthracycline-based chemotherapy (with a combination such as FAC or FEC) followed by 5 years of adjuvant tamoxifen. For, if mortality reductions of 38% (age Interpretation Some of the widely practicable adjuvant drug treatments that were being tested in the 1980s, which substantially reduced 5-year recurrence rates (but had somewhat less effect on 5-year mortality rates), also substantially reduce 15-year mortality rates. Further improvements in long-term survival could well be available from newer drugs, or better use of older drugs.
Published: 2005

20. Continuing outcomes relevant to Evista: breast cancer incidence in postmenopausal osteoporotic women in a randomized trial of raloxifene

Author: Martino, S. A, Cauley, J. A. B, Barrett Connor, E. C, Powles, T. J. D, Mershon, J. E, Disch, D. E, Secrest, R. J. E, Cummings, S. R. F, Mautalen, C. A. G, Zanchetta, J. R. H, Hooper, M. J. I, K. W. J, Ng, Prince, R. L. K, Nicholson, G. L, Roberts, A. P. M, Seeman, E. N, Williamson, M. O, Boschitsch, E. P, Leb, G. Q, Body, J. J. R, Devogelaer, J. P. S, Geusens, P. T, Kaufman, J. M. u, Peretz, A. V, Adachi, J. W, Bensen, W. X, Brown, J. P. Y, Cheung, A. Z, Chik, C. Aa, Gee, S. Ab, Hanley, D. Ac, Hawker, G. A. Ad, Hodsman, A. B. Ae, Joyce, C. Af, Monchesky, T. C. Ag, Olszynski, W. P. Ah, Roe, B. Ai, Senikas, V. Aj, Seminoski, K. Ak, Wall, J. Ab, Stepan, J. Al, Hyldstrup, L. Am, Langdahl, B. An, Sorensen, T. H. Ao, Alhava, E. Ap, Kormano, M. Aq, Salmela, P. Ar, Salmi, J. As, Valimaki, M. At, Audran, M. Au, Briancon, D. Av, Delmas, P. Aw, Fardellone, P. Ax, Ribot, C. Ay, De Vernejoul, M. C. Az, Balogh, A. Ba, Julesz, J. Bb, Szuecs, J. Bc, Karsik, A. Bd, Fiore, C. Be, Genazzani, A. R. Bf, Gennari, C. Bg, Isaia, Giovanni Carlo, Melis, G. B. Bi, Nuti, R. Bg, Oriente, P. Bj, Passeri, M. Bk, Sartori, L. Bl, Corea Rotter, R. Bm, Gonzalez, S. Bn, Murillo, A. Bo, Jonker, J. J. Bp, Lips, P. Bq, Mulder, H. Br, Pols, H. A. Bs, Halse, J. I. Bt, Hoiseth, A. Bu, Jorde, R. Bv, Olford, E. S. Bw, Skag, A. Bw, Stakkestad, J. A. Bx, Wist, E. By, Badurski, J. E. Bz, Hoszowski, K. Ca, Ogonowski, J. Cc, Bose, K. Cb, Lee, K. O. Cb, Dzurik, R. Cd, Kocijancic, A. Ce, Cannata Andia, J. B. Cf, Collado, R. C. Cg, Carranza, F. H. Ch, Diez Perez, A. Cf, Escobar Jimenez, F. Ci, Minguella, J. F. Cj, Solan, X. N. Cf, Torres, M. M. Cj, Larsson, K. Ck, and Malströem, D. Cl
Subjects: Selective Estrogen Receptor Modulators, Cancer Research, medicine.medical_specialty, Antineoplastic Agents, Hormonal, Breast Neoplasms, Placebo, Drug Administration Schedule, law.invention, Breast cancer, Randomized controlled trial, Double-Blind Method, Estrogen Receptor Modulators, law, Internal medicine, medicine, Humans, Raloxifene, Osteoporosis, Postmenopausal, Aged, Gynecology, business.industry, Raloxifene Hydrochloride, Incidence, Patient Selection, Lasofoxifene, Middle Aged, medicine.disease, United States, Treatment Outcome, Oncology, Selective estrogen receptor modulator, Female, business, Tamoxifen, medicine.drug
Abstract: Background: The randomized, double-blind Multiple Outcomes of Raloxifene Evaluation (MORE) trial found that 4 years of raloxifene therapy decreased the incidence of invasive breast cancer among postmenopausal women with osteoporosis by 72% compared with placebo. We conducted the Continuing Outcomes Relevant to Evista (CORE) trial to examine the effect of 4 additional years of raloxifene therapy on the incidence of invasive breast cancer in women in MORE who agreed to continue in CORE. Methods: Women who had been randomly assigned to receive raloxifene (either 60 or 120 mg/day) in MORE were assigned to receive raloxifene (60 mg/day) in CORE (n = 3510), and women who had been assigned to receive placebo in MORE continued on placebo in CORE (n = 1703). Breast cancer incidence was analyzed by a log-rank test, and a Cox proportional hazards model was used to compute hazard ratios (HRs) and 95% confidence intervals (CIs). All statistical tests were two-sided. Results: During the CORE trial, the 4-year incidences of invasive breast cancer and estrogen receptor (ER)-positive invasive breast cancer were reduced by 59% (HR = 0.41; 95% CI = 0.24 to 0.71) and 66% (HR = 0.34; 95% CI = 0.18 to 0.66), respectively, in the raloxifene group compared with the placebo group. There was no difference between the two groups in incidence of ER-negative invasive breast cancer during CORE (P = .86). Over the 8 years of both trials, the incidences of invasive breast cancer and ER-positive invasive breast cancer were reduced by 66% (HR = 0.34; 95 % CI = 0.22 to 0.50) and 76% (HR = 0.24; 95% CI = 0.15 to 0.40), respectively, in the raloxifene group compared with the placebo group. During the CORE trial, the relative risk of thromboembolism in the raloxifene group compared with that in the placebo group was 2.17 (95% CI = 0.83 to 5.70). This increased risk, also observed in the MORE trial, persisted over the 8 years of both trials. Conclusions: The reduction in invasive breast cancer incidence continues beyond 4 years of raloxifene treatment in postmenopausal women with osteoporosis. No new safety concerns related to raloxifene therapy were identified during CORE. © Oxford University Press 2004, all rights reserved.
Published: 2004

21. X-linked agammaglobulinemia (XLA): An Italian Multicenter Clinical Study

Author: Plebani, A, Baldassarre, M, Cardinale, F, Cazzola, G, De Mattia, D, Duse, M, Flore, M, Martino, S, Masi, M, Monafo, V, Pietrogrande, C, Pignata, C, Quinti, I, Ragno, V, Rossi, P, Stabile, A, and Moschese, V
Subjects: Clinical study, Settore MED/38 - Pediatria Generale e Specialistica, Pediatrics, medicine.medical_specialty, business.industry, Immunology, Medicine, X-linked agammaglobulinemia, business, medicine.disease, Molecular Biology
Published: 1998

22. A Select List on Patient Education and Home Health Care

Author: Kuramoto Am and Martino S
Subjects: Parents, medicine.medical_specialty, Home Nursing, business.industry, Simulated patient, Education, Patient Education as Topic, Review and Exam Preparation, Home health, Family medicine, Health care, Humans, Medicine, Nursing Care, Bibliographies as Topic, Child, business, General Nursing, Patient education
Published: 1989
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23. Ovarian ablation in early breast cancer: Overview of the randomised trials

Author: Clarke, M., Collins, R., Davies, C., Godwin, J., Gray, R., Peto, R., Abe, O., Abe, R., Enomoto, K., Kikuchi, K., Koyama, H., Nomura, Y., Sakai, K., Sugimachi, K., Tominaga, T., Uchino, J., Yoshida, M., Vandevelde, Ao, Vandongen, Ja, Vermorken, Jb, Arvelakis, A., Giokas, G., Lissaios, B., Harvey, Vj, Holdaway, Tm, Kay, Rg, Mason, Bh, Coates, A., Forbes, Jf, Focan, C., Lobelle, Jp, Peek, U., Oates, Gd, Powell, J., Bastert, G., Rauschecker, H., Sauer, R., Sauerbrei, W., Schauer, A., Schumacher, M., Durand, M., Mauriac, L., Bartholomeus, S., Piccart, Mj, Gelman, Rs, Henderson, Ic, Shapiro, Cl, Hancock, Ak, Masood, Mb, Parker, D., Price, Jj, Jackson, S., Ragaz, J., Delozier, T., Macelesech, J., Haybittle, Jl, Cirrincione, C., Korzun, A., Weiss, Rb, Wood, Wc, Baum, M., Houghton, J., Riley, D., Dent, Dm, Gudgeon, Ca, Hacking, A., Horgan, K., Hughes, L., Stewart, Hj, Gordon, Nh, Davis, Hl, Lehingue, Y., Owen, Jr, Meier, P., Howell, A., Ribeiro, Gc, Swindell, R., Albano, J., Deoliveira, Cf, Gervasio, H., Gordilho, J., Carstensen, B., Palshof, T., Johansen, H., Korzeniowski, S., Skolyszewski, J., Andersen, Kw, Axelsson, Ck, Blicherttoft, M., Mouridsen, Ht, Overgaard, M., Rose, C., Corcoran, N., Trampisch, Hj, Abeloff, Md, Carbone, Pc, Glick, J., Tormey, Dc, Rossbach, J., Scanlon, Ef, Schurman, S., Deschryver, A., Yosef, Hma, Mcardle, Cs, Smith, Dc, Lara, Pc, Boccardo, F., Erazo, A., Medina, Jy, Izuo, M., Morishita, Y., Bentley, A., Doran, Z., Fentiman, Is, Hayward, Jl, Rubens, Rd, Kaufmann, M., Jonat, W., Scheurlen, H., Vonfournier, D., Fountzilas, G., Klefstrom, P., Blomqvist, C., Cuzick, J., Margreiter, R., Castiglione, M., Cavalli, F., Collins, J., Forbes, J., Gelber, Rd, Goldhirsch, A., Lindtner, J., Price, Kn, Rudenstam, Cm, Senn, Hj, Bliss, Jm, Chilvers, Ced, Coombes, Rc, Marty, M., Borovik, R., Brufman, G., Hayat, H., Robinson, E., Wigler, N., Pannuti, F., Takashima, S., Tasutomi, T., Sonoo, H., Yamashita, J., Ogawa, M., Hupperets, Psgj, Bonte, J., Tengrup, I., Tennvallnittby, L., Martin, P., Romain, S., Ahmann, D., Schaid, Dj, Buzdar, Au, Smith, T., Hakes, T., Norton, L., Wittes, R., Delahuerta, R., Sainz, Mg, Bonadonna, G., Delvecchio, M., Valagussa, P., Veronesi, U., Dubois, Jb, Bianco, Ar, Lippman, Me, Pierce, Lj, Simon, R., Steinberg, Sm, Brown, A., Fisher, B., Redmond, C., Wolmark, N., Jackson, Im, Palmer, Mk, Ingle, Jn, Suman, Vj, Bengtsson, No, Larsson, Lg, Lythgoe, Jp, Kissin, M., Hannisdal, E., Varhaug, Je, Nissenmeyer, R., Blamey, Rw, Mitchell, Ak, Robertson, Jfr, Nakamura, Y., Mathe, G., Misset, Jl, Abuzahra, Ht, Clarke, Ea, Mclaughlin, Jr, Clark, Rm, Levine, M., Myles, Jd, Pater, Jl, Pritchard, Ki, Morimoto, K., Sawa, K., Takatsuka, Y., Gundersen, S., Hauerjensen, M., Host, A., Crossley, E., Durrant, K., Harris, A., Beighton, A., Evans, V., Greaves, E., Harwood, C., James, S., Lau, E., Mead, G., Muldal, A., Naughton, A., Tooth, A., Wheatley, K., Rambert, P., Asselain, B., Salmon, Rj, Vilcoq, Jr, Rodrigo Arriagada, Hill, C., Laplanche, A., Le, Mg, Speilmann, M., Cocconi, G., Diblasio, B., Catalano, R., Creech, Rh, Brockschmidt, J., Cooper, MR, Andrysek, O., Barkmanova, J., Falkson, Cj, Abraham, M., Klijn, Jgm, Treurnietdonker, Ad, Vanputten, Wlj, Easton, D., Powles, Tj, Gazet, Jc, Semiglazov, V., Deshpande, N., Dimartino, L., Douglas, P., Host, H., Bryant, Ajs, Ewing, Gh, Krushenkosloski, Jl, Forrest, Apm, Jack, W., Mcdonald, C., Moller, Tr, Ryden, S., Carstensen, J., Hatschek, T., Soderberg, M., Carpenter, Jt, Albain, K., Crowley, J., Green, S., Martino, S., Osborne, Ck, Ravdin, Pm, Rutqvist, Le, Wallgren, A., Holm, Le, Yoshimoto, M., Deboer, G., Paterson, Ahg, Meakin, Jw, Panzarella, T., Naja, A., Bahi, J., Reid, M., Spittle, M., Senanayake, F., Bergh, J., Holmberg, L., Sevelda, P., Zielinsky, Cc, Jakesz, R., Gnant, M., Buchanan, Rb, Cross, M., Dunn, Ja, Gillespie, Wm, Kelly, K., Morrison, Jm, Litton, A., Chlebowski, Rt, Bezwoda, Wr, Caffier, H., Clarke, M, Collins, R, Davies, C, Godwin, J, Gray, R, Peto, R, Abe, O, Abe, R, Enomoto, K, Kikuchi, K, Koyama, H, Nomura, Y, Sakai, K, Sugimachi, K, Tominaga, T, Uchino, J, Yoshida, M, vandeVelde, A, vanDongen, J, Vermorken, J, Arvelakis, A, Giokas, G, Lissaios, B, Harvey, V, and Holdaway, T
Subjects: Oncology, medicine.medical_specialty, Breast cancer, business.industry, Internal medicine, medicine, Ovarian Ablation, General Medicine, business, medicine.disease, Early breast cancer
Abstract: Background Among women with early breast cancer, the effects of ovarian ablation on recurrence and death have been assessed by several randomised trials that now have long follow-up. In this report, the Early Breast Cancer Trialists' Collaborative Group present their third 5-yearly systematic overview (meta-analysis), now with 15 years' follow-up. Methods In 1995, information was sought on each patient in any randomised trial of ovarian ablation or suppression versus control that began before 1990. Data were obtained for 12 of the 13 studies that assessed ovarian ablation by irradiation or surgery, all of which began before 1980, but not for the four studies that assessed ovarian suppression by drugs, all of which began after 1985. Menopausal status was not consistently defined across trials; therefore, the main analyses are limited to women aged under 50 (rather than “premenopausal”) when randomised. Oestrogen receptors were measured only in the trials of ablation plus cytotoxic chemotherapy versus the same chemotherapy alone. Findings Among 2102 women aged under 50 when randomised, most of whom would have been premenopausal at diagnosis, 1130 deaths and an additional 153 recurrences were reported. 15-year survival was highly significantly improved among those allocated ovarian ablation (52·4 vs46·1%, 6·3 [SD 2·3] fewer deaths per 100 women, logrank 2p=0·001), as was recurrence-free survival (45·0 vs 39·0%, 2p=0·0007). The numbers of events were too small for any subgroup analyses to be reliable. The benefit was, however, significant both for those with (“node positive”) and for those without (“node negative”) axillary spread when diagnosed. In the trials of ablation plus cytotoxic chemotherapy versus the same chemotherapy alone, the benefit appeared smaller (even for women with oestrogen receptors detected on the primary tumour) than in the trials of ablation in the absence of chemotherapy (where the observed survival improvements were about six per 100 node-negative women and 12 per 100 node-positive women). Among 1354 women aged 50 or over when randomised, most of whom would have been perimenopausal or postmenopausal, there was only a nonsignificant improvement in survival and recurrence-free survival. improves long-term survival, at least in the absence of chemotherapy. Further randomised evidence is needed on the additional effects of ovarian ablation in the presence of other adjuvant treatments, and to assess the relevance of hormone-receptor measurements. Interpretation In women aged under 50 with early breast cancer, ablation of functioning ovaries significantly.

24. Effects of radiotherapy and of differences in the extent of surgery for early breast cancer on local recurrence and 15-year survival: an overview of the randomised trials

Author: Abe, O., Abe, R., Enomoto, K., Kikuchi, K., Koyama, H., Masuda, H., Nomura, Y., Sakai, K., Sugimachi, K., Tominaga, T., Uchino, J., Yoshida, M., Haybittle, J. L., Davies, C., Harvey, V. J., Holdaway, T. M., Kay, R. G., Mason, B. H., Forbes, J. F., Wilcken, N., Gnant, M., Jakesz, R., Ploner, M., Yosef, H. M. A., Focan, C., Lobelle, J. P., Peek, U., Oates, G. D., Powell, J., Durand, M., Mauriac, L., Di Leo, A., Dolci, S., Piccart, M. J., Masood, M. B., Parker, D., Price, J. J., Hupperets, P. S. G. J., Jackson, S., Ragaz, J., Berry, D., Broadwater, G., Cirrincione, C., Muss, H., Norton, L., Weiss, R. B., Abu-Zahra, H. T., Portnoj, S. M., Baum, M., Cuzick, J., Houghton, J., Riley, D., Mansel, R. E., Gordon, N. H., Davis, H. L., Beatrice, A., Mihura, J., Naja, A., Lehingue, Y., Romestaing, P., Dubois, J. B., Delozier, T., Mace Lesec'h, J., Rambert, P., Petruzelka, L., Pribylova, O., Owen, J. R., Harbeck, N., Jänicke, F., Meisner, C., Meier, P., Howell, A., Ribeiro, G. C., Swindell, R., Burrett, J., Clarke, M., Collins, R., Darby, S., Elphinstone, P., Evans, V., Godwin, J., Gray, R., Harwood, C., Hicks, C., Jackson, D., James, S., Mackinnon, E., Mcgale, P., Mchugh, T., Mead, G., Morris, P., Oulds, J., Peto, R., Taylor, C., Wang, Y., Albano, J., De Oliveira, C. F., Gervásio, H., Gordilho, J., Johansen, H., Mouridsen, H. T., Gelman, R. S., Harris, J. R., Henderson, I. C., Shapiro, C. L., Christiansen, P., Ejlertsen, B., Møller, S., Overgaard, M., Carstensen, B., Palshof, T., Trampisch, H. J., Dalesio, O., De Vries, E. G. E., Rodenhuis, S., Van Tinteren, H., Comis, R. L., Davidson, N. E., Robert, N., Sledge, G., Tormey, D. C., Wood, W., Cameron, D., Chetty, U., Forrest, P., Jack, W., Rossbach, J., Klijn, J. G. M., Treurniet-Donker, A. D., Van Putten, W. L. J., Costa, A., Veronesi, U., Bartelink, H., Duchateau, L., Legrand, C., Sylvester, R., Van Der Hage, J. A., Van De Velde, C. J. H., Cunningham, M. P., Catalano, R., Creech, R. H., Bonneterre, J., Fargeot, P., Fumoleau, P., Kerbrat, P., Namer, M., Jonat, W., Kaufmann, M., Schumacher, M., Von Minckwitz, G., Bastert, G., Rauschecker, H., Sauer, R., Sauerbrei, W., Schauer, A., De Schryver, A., Vakaet, L., Belfiglio, M., Nicolucci, A., Pellegrini, F., Sacco, M., Valentini, M., Mcardle, C. S., Smith, D. C., Galligioni, E., Boccardo, F., Rubagotti, A., Dent, D. M., Gudgeon, C. A., Hacking, A., Erazo, A., Medina, J. Y., Izuo, M., Morishita, Y., Takei, H., Fentiman, I. S., Hayward, J. L., Rubens, R. D., Skilton, D., Scheurlen, H., Von Fournier, D., Dafni, U., Fountzilas, G., Klefstrom, P., Blomqvist, C., Saarto, T., Margreiter, R., Asselain, B., Salmon, R. J., Vilcoq, J. R., Arriagada, R., Hill, C., Laplanche, A., M. G., Lê, Spielmann, M., Bruzzi, P., Montanaro, E., Rosso, R., Sertoli, M. R., Venturini, M., Amadori, D., Benraadt, J., Kooi, M., Van De Velde, A. O., Van Dongen, J. A., Vermorken, J. B., Castiglione, M., Cavalli, F., Coates, A., Collins, J., Forbes, J., Gelber, R. D., Goldhirsch, A., Lindtner, J., Price, K. N., Rudenstam, C. M., Senn, H. J., Bliss, J. M., Chilvers, C. E. D., Coombes, R. C., Hall, E., Marty, M., Borovik, R., Brufman, G., Hayat, H., Robinson, E., Wigler, N., Bonadonna, G., Camerini, T., De Palo, G., Del Vecchio, M., Formelli, F., Valagussa, P., Martoni, A., Pannuti, F., Cocconi, G., Colozza, A., Camisa, R., Aogi, K., Takashima, S., Ikeda, T., Inokuchi, K., Sawa, K., Sonoo, H., Korzeniowski, S., Skolyszewski, J., Ogawa, M., Yamashita, J., Bonte, J., Christiaens, R., Paridaens, R., Van Den Bogaert, W., Martin, P., Geniez, ROMAIN SYLVAIN JEAN, Hakes, T., Hudis, C. A., Wittes, R., Giokas, G., Kondylis, D., Lissaios, B., De La Huerta, R., Sainz, M. G., Altemus, R., Cowan, K., Danforth, D., Lichter, A., Lippman, M., O'Shaughnessy, J., Pierce, L. J., Steinberg, S., Venzon, D., Zujewski, J. A., Paradiso, A., De Lena, M., Schittulli, F., Myles, J. D., Pater, J. L., Pritchard, K. I., Whelan, T., Anderson, S., Bass, G., Brown, A., Bryant, J., Costantino, J., Dignam, J., Fisher, B., Redmond, C., Wieand, S., Wolmark, N., Jackson, I. M., Palmer, M. K., Ingle, J. N., Suman, V. J., Bengtsson, N. O., Jonsson, H., Larsson, L. G., Lythgoe, J. P., Kissin, M., Erikstein, B., Hannisdal, E., Jacobsen, A. B., Varhaug, J. E., Gundersen, S., Hauer-Jensen, M., Høst, H., Nissen-Meyer, R., Blamey, R. W., Mitchell, A. K., Morgan, D. A. L., Robertson, J. F. R., Di Palma, M., Mathé, G., Misset, J. L., Clark, R. M., Levine, M., Morimoto, K., Takatsuka, Y., Crossley, E., Harris, A., Talbot, D., Taylor, M., Di Blasio, B., Ivanov, V., Semiglazov, V., Brockschmidt, J., Cooper, M. R., Ueo, H., Falkson, C. I., A'Hern, R., Ashley, S., Powles, T. J., Smith, I. E., Yarnold, J. R., Gazet, J. C., Corcoran, N., Deshpande, N., Di Martino, L., Douglas, P., Lindtner, A., Notter, G., Bryant, A. J. S., Ewing, G. H., Firth, L. A., Krushen-Kosloski, J. L., Foster, L., George, W. D., Stewart, H. J., Stroner, P., Malmström, P., Möller, T. R., Rydén, S., Tengrup, I., Tennvall-Nittby, L., Carstenssen, J., Dufmats, M., Hatschek, T., Nordenskjöld, B., Söderberg, M., Carpenter, J. T., Albain, K., Crowley, J., Green, S., Martino, S., Osborne, C. K., Ravdin, P. M., Glas, U., Johansson, U., Rutqvist, L. E., Singnomklao, T., Wallgren, A., Maibach, R., Thürlimann, B., Brenner, H., Hercbergs, A., Yoshimoto, M., Deboer, G., Paterson, A. H. G., Meakin, J. W., Panzarella, T., Shan, Y., Shao, Y. F., Wang, X., Zhao, D. B., Chen, Z. M., Pan, H. C., Bahi, J., Reid, M., Spittle, M., Deutsch, G. P., Senanayake, F., Kwong, D. L. W., Bianco, A. R., Carlomagno, C., De Laurentiis, M., De Placido, S., Buzdar, A. U., Smith, T., Bergh, J., Holmberg, L., Liljegren, G., Nilsson, J., Seifert, M., Sevelda, P., Zielinsky, C. C., Buchanan, R. B., Cross, M., Royle, G. T., Dunn, J. A., Hills, R. K., Lee, M., Morrison, J. M., Spooner, D., Litton, A., Chlebowski, R. T., Caffier, H., Clarke, M, Collins, R, Darby, S, Davies, C, Elphinstone, P, Evans, E, Godwin, J, Gray, R, Hicks, C, James, S, MacKinnon, E, McGale, P, McHugh, T, Peto, R, Taylor, C, and Wang, Y
Subjects: medicine.medical_specialty, Time Factors, medicine.medical_treatment, Breast Neoplasms, Rate ratio, Breast Conservation Treatment, Disease-Free Survival, Breast cancer, Cause of Death, Breast-conserving surgery, Medicine, Humans, Lung cancer, Aged, Probability, Randomized Controlled Trials as Topic, business.industry, Female, Middle Aged, Neoplasm Recurrence, Local, Medicine (all), General Medicine, medicine.disease, Surgery, Radiation therapy, Unilateral Breast Neoplasms, Neoplasm Recurrence, Local, business, Mastectomy
Abstract: Background In early breast cancer, variations in local treatment that substantially affect the risk of locoregional recurrence could also affect long-term breast cancer mortality. To examine this relationship, collaborative meta-analyses were undertaken, based on individual patient data, of the relevant randomised trials that began by 1995. Methods Information was available on 42 000 women in 78 randomised treatment comparisons (radiotherapy vs no radiotherapy, 23 500; more vs less surgery, 9300; more surgery vs radiotherapy, 9300). 24 types of local treatment comparison were identified. To help relate the effect on local (ie, locoregional) recurrence to that on breast cancer mortality, these were grouped according to whether or not the 5-year local recurrence risk exceeded 10% (10%, 25 000 women). Findings About three-quarters of the eventual local recurrence risk occurred during the first 5 years. In the comparisons that involved little (10%) differences, however, 5-year local recurrence risks were 7% active versus 26% control (absolute reduction 19%), and 15-year breast cancer mortality risks were 44·6% versus 49·5% (absolute reduction 5·0%, SE 0·8, 2p These 25 000 women included 7300 with breast-conserving surgery (BCS) in trials of radiotherapy (generally just to the conserved breast), with 5-year local recurrence risks (mainly in the conserved breast, as most had axillary clearance and node-negative disease) 7% versus 26% (reduction 19%), and 15-year breast cancer mortality risks 30·5% versus 35·9% (reduction 5·4%, SE 1·7, 2p=0·0002; overall mortality reduction 5·3%, SE 1·8, 2p=0·005). They also included 8500 with mastectomy, axillary clearance, and node-positive disease in trials of radiotherapy (generally to the chest wall and regional lymph nodes), with similar absolute gains from radiotherapy; 5-year local recurrence risks (mainly at these sites) 6% versus 23% (reduction 17%), and 15-year breast cancer mortality risks 54·7% versus 60·1% (reduction 5·4%, SE 1·3, 2p=0·0002; overall mortality reduction 4·4%, SE 1·2, 2p=0·0009). Radiotherapy produced similar proportional reductions in local recurrence in all women (irrespective of age or tumour characteristics) and in all major trials of radiotherapy versus not (recent or older; with or without systemic therapy), so large absolute reductions in local recurrence were seen only if the control risk was large. To help assess the life-threatening side-effects of radiotherapy, the trials of radiotherapy versus not were combined with those of radiotherapy versus more surgery. There was, at least with some of the older radiotherapy regimens, a significant excess incidence of contralateral breast cancer (rate ratio 1·18, SE 0·06, 2p=0·002) and a significant excess of non-breast-cancer mortality in irradiated women (rate ratio 1·12, SE 0·04, 2p=0·001). Both were slight during the first 5 years, but continued after year 15. The excess mortality was mainly from heart disease (rate ratio 1·27, SE 0·07, 2p=0·0001) and lung cancer (rate ratio 1·78, SE 0·22, 2p=0·0004). Interpretation In these trials, avoidance of a local recurrence in the conserved breast after BCS and avoidance of a local recurrence elsewhere (eg, the chest wall or regional nodes) after mastectomy were of comparable relevance to 15-year breast cancer mortality. Differences in local treatment that substantially affect local recurrence rates would, in the hypothetical absence of any other causes of death, avoid about one breast cancer death over the next 15 years for every four local recurrences avoided, and should reduce 15-year overall mortality.

25. Musculoskeletal manifestations of childhood cancer and differential diagnosis with juvenile idiopathic arthritis (ONCOREUM): a multicentre, cross-sectional study

Author: Giovanna Russo, Valentino Conter, M Caniglia, A Garaventa, Giulia Stabile, MF Gicchino, Elisa Rossi, Annalisa Arlotta, S Ladogana, C Atzeni, Rita Consolini, Luciana Vinti, Daniela Onofrillo, Roberto Rondelli, Nicola Santoro, Loredana Lepore, F Locatelli, Elisa Coassin, Monica Ficara, Micol Romano, S Martino, Roberta Burnelli, I Fontanili, Francesca Soscia, Eleonora Prete, Francesca Santarelli, Romina Gallizzi, Patrizia Barone, MG Cefalo, E Cortis, Giovanni Filocamo, M Amatruda, Angela Miniaci, Anna Maria Caroleo, Massimo Eraldo Abate, Maria Cristina Maggio, M Mascarin, Simone Cesaro, E Fabbri, F De Benedetti, Angelo Ravelli, Alma Nunzia Olivieri, C Micalizzi, A Magnolato, B Bigucci, Francesca Ricci, Elisa Tirtei, Antonella Colombini, Luciana Breda, Tamara Belotti, Raffaela De Santis, Roberta Pericoli, Serena Pastore, Silvia Magni-Manzoni, Rosa Anna Podda, Chiara Mainardi, Donato Rigante, Federico Verzegnassi, C Messina, Adele Civino, Cristina Pizzato, M Marsili, Chiara Gorio, Rossella Mura, M Cattalini, Andrea Pession, M Cappella, A Di Cataldo, Francesco La Torre, Assunta Tornesello, Andrea Roncadori, F Porta, Maria Antonietta Pelagatti, F Fagioli, P Bertolini, Ilaria Capolsini, C Rizzari, M Cellini, Bianca Lattanzi, Alessandro De Fanti, S Davì, Carmela De Fusco, Giovanni Alighieri, Andrea Biondi, Civino, Adele, Alighieri, Giovanni, Prete, Eleonora, Maria Caroleo, Anna, SilviaMagni-Manzoni, Vinti, Luciana, Romano, Micol, Santoro, Nicola, Filocamo, Giovanni, Belotti, Tamara, Santarelli, Francesca, Gorio, Chiara, Ricci, Francesca, Colombini, Antonella, Pastore, Serena, Cesaro, Simone, Barone, Patrizia, Verzegnassi, Federico, Olivieri, Alma Nunzia, Ficara, Monica, Miniaci, Angela, Russo, Giovanna, Gallizzi, Romina, Pericoli, Roberta, Breda, Luciana, Mura, Rossella, Annapodda, Rosa, Onofrillo, Daniela, Lattanzi, Bianca, Elisatirtei, Cristina Maggio, Maria, De Santis, Raffaela, Ritaconsolini, Arlotta, Annalisa, La Torre, Francesco, Mainardi, Chiara, Antonietta Pelagatti, Maria, Coassin, Elisa, Capolsini, Ilaria, Burnelli, Roberta, Tornesello, Assunta, Soscia, Francesca, De Fanti, Alessandro, Donatorigante, Pizzato, Cristina, De Fusco, Carmela, Eraldo Abate, Massimo, Roncadori, Andrea, Rossi, Elisa, Stabile, Giulia, Biondi, Andrea, Lepore, Loredana, Conter, Valentino, Rondelli, Roberto, Pession, Andrea, Ravelli, Angelo, Association of Paediatric Haematology and Oncology†and the Italian Paediatric Rheumatology Study Group†, Italian, Amatruda, M, Atzeni, C, Pbertolini, Bigucci, B, Caniglia, M, Cappella, M, Cattalini, M, Cefalo, Mg, Cellini, M, Cortis, E, Davì, S, De Benedetti, F, Di Cataldo, A, Fabbri, E, Fagioli, F, Fontanili, I, Garaventa, A, Gicchino, MARIA FRANCESCA, Ladogana, S, Locatelli, F, Magnolato, A, Marsili, M, Martino, S, Mascarin, M, Messina, C, Micalizzi, C, Porta, F, Rizzari, C, Civino A., Alighieri G., Prete E., Caroleo A.M., Magni-Manzoni S., Vinti L., Romano M., Santoro N., Filocamo G., Belotti T., Santarelli F., Gorio C., Ricci F., Colombini A., Pastore S., Cesaro S., Barone P., Verzegnassi F., Olivieri A.N., Ficara M., Miniaci A., Russo G., Gallizzi R., Pericoli R., Breda L., Mura R., Podda R.A., Onofrillo D., Lattanzi B., Tirtei E., Maggio M.C., De Santis R., Consolini R., Arlotta A., La Torre F., Mainardi C., Pelagatti M.A., Coassin E., Capolsini I., Burnelli R., Tornesello A., Soscia F., De Fanti A., Rigante D., Pizzato C., De Fusco C., Abate M.E., Roncadori A., Rossi E., Stabile G., Biondi A., Lepore L., Conter V., Rondelli R., Pession A., Ravelli A., Amatruda M., Atzeni C., Bertolini P., Bigucci B., Caniglia M., Cappella M., Cattalini M., Cefalo M.G., Cellini M., Cortis E., Davi S., De Benedetti F., Di Cataldo A., Fabbri E., Fagioli F., Fontanili I., Garaventa A., Gicchino M.F., Ladogana S., Locatelli F., Magnolato A., Marsili M., Martino S., Mascarin M., Messina C., Micalizzi C., Porta F., Rizzari C., Civino, A, Alighieri, G, Prete, E, Caroleo, A, Magni-Manzoni, S, Vinti, L, Romano, M, Santoro, N, Filocamo, G, Belotti, T, Santarelli, F, Gorio, C, Ricci, F, Colombini, A, Pastore, S, Cesaro, S, Barone, P, Verzegnassi, F, Olivieri, A, Ficara, M, Miniaci, A, Russo, G, Gallizzi, R, Pericoli, R, Breda, L, Mura, R, Podda, R, Onofrillo, D, Lattanzi, B, Tirtei, E, Maggio, M, De Santis, R, Consolini, R, Arlotta, A, La Torre, F, Mainardi, C, Pelagatti, M, Coassin, E, Capolsini, I, Burnelli, R, Tornesello, A, Soscia, F, De Fanti, A, Rigante, D, Pizzato, C, De Fusco, C, Abate, M, Roncadori, A, Rossi, E, Stabile, G, Biondi, A, Lepore, L, Conter, V, Rondelli, R, Pession, A, Ravelli, A, Bertolini, P, Cefalo, M, Davi, S, and Gicchino, M
Subjects: medicine.medical_specialty, business.industry, Immunology, Arthritis, Cancer, Odds ratio, Musculoskeletal manifestation, Juvenile idiopathic arthritis, medicine.disease, Histiocytosis, Rheumatology, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Prednisone, Internal medicine, Joint pain, Arthropathy, Musculoskeletal manifestations, childhood cancer, juvenile idiopathic arthritis, medicine, childhood cancer, Immunology and Allergy, Differential diagnosis, medicine.symptom, business, medicine.drug
Abstract: Summary Background Presenting symptoms of childhood cancers might mimic those of rheumatic diseases. However, the evidence available to guide differential diagnosis remains scarce. Preventing wrong or delayed diagnosis is therefore important to avoid incorrect administration of glucocorticoid or immunosuppressive therapy and worsening of prognosis. As such, we aimed to assess the prevalence and characteristics of presenting musculoskeletal manifestations in patients at cancer onset and to identify the factors that differentiate childhood malignancies with arthropathy from juvenile idiopathic arthritis. Methods We did a multicentre, cross-sectional study at 25 paediatric haemato-oncology centres and 22 paediatric rheumatology centres in Italy. We prospectively recruited patients who were younger than 16 years that were newly diagnosed with cancer or juvenile idiopathic arthritis. We excluded patients with glucocorticoid pre-treatment (>1 mg/kg per day of oral prednisone or equivalent for ≥2 consecutive weeks). We collected data for patients with a new diagnosis of cancer or juvenile idiopathic arthritis using an electronic case report form on a web-based platform powered by the Cineca Interuniversity Consortium. The primary outcome was to describe the frequency and characteristics of musculoskeletal manifestations at cancer onset; and the secondary outcome was to identify factors that could discriminate malignancies presenting with arthropathy, with or without other musculoskeletal symptoms, from juvenile idiopathic arthritis using multivariable logistic regression analysis. Findings Between May 1, 2015, and May 31, 2018, 1957 patients were eligible, of which 1277 (65%) had cancer and 680 (35%) had juvenile idiopathic arthritis. Musculoskeletal symptoms occurred in 324 (25% [95% CI 23·0–27·8]) of 1277 patients with cancer, of whom 207 had arthropathy. Patients with malignant bone tumours had the highest frequency of musculoskeletal symptoms (53 [80%] of 66), followed by patients with Langerhans histiocytosis (16 [47%] of 34), leukaemia (189 [32%] of 582), soft-tissue sarcomas (16 [24%] of 68), and neuroblastoma (21 [19%] of 109). In the 324 patients with cancer and musculoskeletal symptoms, the most common complaints were joint pain (199 [61%]), followed by limb bone pain (112 [35%]). Joint involvement had a prevalent monoarticular pattern (100 [48%] of 207) and oligoarticular pattern (86 [42%] had 2–4 joints involved and 20 [10%] had >4 joints involved), with the most frequently involved joints being the hip (88 [43%] of 207) and knee (81 [39%]). On multivariable analysis, limb bone pain was the independent variable most strongly associated with cancer (odds ratio [OR] 87·80 [95% CI 18·89–408·12]), followed by weight loss (59·88 [6·34–565·53]), thrombocytopenia (12·67 [2·40–66·92]), monoarticular involvement (11·30 [4·09–31·19]), hip involvement (3·30 [1·13–9·61]), and male sex (2·40 [1·03–5·58]). Factors independently associated with juvenile idiopathic arthritis were morning stiffness (OR 0·04 [95% CI 0·01–0·20]), joint swelling (0·03 [0·01–0·09]), and involvement of the small hand joints (0·02 [0–1·05]). Interpretation Our study provides detailed information about presenting musculoskeletal manifestations of childhood cancers and highlights the clinical and laboratory features that are most helpful in the differential diagnosis with juvenile idiopathic arthritis. Funding Associazione Lorenzo Risolo.
Published: 2021

26. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

Author: A G Ugazio, Giovanna Russo, Maria Giovanna Danieli, Alberto Tommasini, Maria Cristina Pietrogrande, Raffaele Badolato, Andrea Pession, Carlo Agostini, Fabio Cardinale, Eleonora Gambineri, Baldassare Martire, Adele Civino, Manuela Baronio, Marco Gattorno, Marco Zecca, Viviana Moschese, Chiara Azzari, Alessio Benvenuto, Marzia Duse, Antonino Trizzino, Luisa Gazzurelli, Isabella Quinti, Vassilios Lougaris, Andrea Matucci, Giuseppe Spadaro, Claudio Lunardi, Angelo Vacca, Roberto Rondelli, Maria Caterina Putti, Luciana Chessa, Giovanna Fabio, Andrea Biondi, Fausto Cossu, Roberto Paganelli, Paolo Rossi, Rita Consolini, Alessandro Aiuti, Gian Luigi Marseglia, Luigi Carpino, Caterina Cancrini, Maddalena Marinoni, Silvana Martino, Claudio Pignata, Annarosa Soresina, Patrizia Bertolini, Alessandro Plebani, Lougaris, V., Pession, A., Baronio, M., Soresina, A., Rondelli, R., Gazzurelli, L., Benvenuto, A., Martino, S., Gattorno, M., Biondi, A., Zecca, M., Marinoni, M., Fabio, G., Aiuti, A., Marseglia, G., Putti, M. C., Agostini, C., Lunardi, C., Tommasini, A., Bertolini, P., Gambineri, E., Consolini, R., Matucci, A., Azzari, C., Danieli, M. G., Paganelli, R., Duse, M., Cancrini, C., Moschese, V., Chessa, L., Spadaro, G., Civino, A., Vacca, A., Cardinale, F., Martire, B., Carpino, L., Trizzino, A., Russo, G., Cossu, F., Badolato, R., Pietrogrande, M. C., Quinti, I., Rossi, P., Ugazio, A., Pignata, C., Plebani, A., Lougaris, V, Pession, A, Baronio, M, Soresina, A, Rondelli, R, Gazzurelli, L, Benvenuto, A, Martino, S, Gattorno, M, Biondi, A, Zecca, M, Marinoni, M, Fabio, G, Aiuti, A, Marseglia, G, Putti, M, Agostini, C, Lunardi, C, Tommasini, A, Bertolini, P, Gambineri, E, Consolini, R, Matucci, A, Azzari, C, Danieli, M, Paganelli, R, Duse, M, Cancrini, C, Moschese, V, Chessa, L, Spadaro, G, Civino, A, Vacca, A, Cardinale, F, Martire, B, Carpino, L, Trizzino, A, Russo, G, Cossu, F, Badolato, R, Pietrogrande, M, Quinti, I, Rossi, P, Ugazio, A, Pignata, C, and Plebani, A
Subjects: Adult, Male, medicine.medical_specialty, Pediatrics, Primary immunodeficiencies, Adolescent, Databases, Factual, Primary Immunodeficiency Diseases, Immunology, Age at diagnosis, History, 21st Century, Combined immunodeficiencies, Young Adult, Medical microbiology, patient registry, Epidemiology, medicine, Prevalence, Immunology and Allergy, Humans, Registries, Geography, Medical, Child, Adult patients, business.industry, Infant, Newborn, Infant, History, 20th Century, medicine.disease, Prognosis, Settore MED/38, Natural history, Italy, Child, Preschool, Population Surveillance, Cohort, Primary immunodeficiency, Original Article, Female, business
Abstract: Primary immunodeficiencies (PIDs) are heterogeneous disorders, characterized by variable clinical and immunological features. National PID registries offer useful insights on the epidemiology, diagnosis, and natural history of these disorders. In 1999, the Italian network for primary immunodeficiencies (IPINet) was established. We report on data collected from the IPINet registry after 20 years of activity. A total of 3352 pediatric and adult patients affected with PIDs are registered in the database. In Italy, a regional distribution trend of PID diagnosis was observed. Based on the updated IUIS classification of 2019, PID distribution in Italy showed that predominantly antibody deficiencies account for the majority of cases (63%), followed by combined immunodeficiencies with associated or syndromic features (22.5%). The overall age at diagnosis was younger for male patients. The minimal prevalence of PIDs in Italy resulted in 5.1 per 100.000 habitants. Mortality was similar to other European registries (4.2%). Immunoglobulin replacement treatment was prescribed to less than one third of the patient cohort. Collectively, this is the first comprehensive description of the PID epidemiology in Italy.
Published: 2020

27. A national cohort study on pediatric Behçet's disease: Cross-sectional data from an Italian registry

Author: Rolando Cimaz, Giovanni Filocamo, Alma Nunzia Olivieri, Nicolino Ruperto, Romina Gallizzi, Adele Civino, Luca Cantarini, Martina Finetti, Rita Consolini, Angela Mauro, Marco Cattalini, Maria Cristina Maggio, Silvana Martino, Caterina Pidone, Giuseppe Trimarchi, Serena Pastore, Antonella Insalaco, Donato Rigante, Diana Sutera, Giovanna Fabio, Marco Gattorno, Gallizzi, R., Pidone, C., Cantarini, L., Finetti, M., Cattalini, M., Filocamo, G., Insalaco, A., Rigante, D., Consolini, R., Maggio, M., Civino, A., Martino, S., Olivieri, A., Fabio, G., Pastore, S., Mauro, A., Sutera, D., Trimarchi, G., Ruperto, N., Gattorno, M., Cimaz, R., Galizzi, R, Pidone, C, Cantarini, L, Finetti, M, Cattalini, M, Filocamo, G, Insalaco, A, Rigante, D, Consolini, R, Maggio, Mc, Civino, A, Martino, S, Olivieri, An, Fabio, G, Pastore, S, Mauro, A, Sutera, D, Trimarchi, G, Ruperto, N, and Gattorno, M
Subjects: Male, lcsh:Diseases of the musculoskeletal system, Diagnostic criteria, Cross-sectional study, Constitutional symptoms, Behcet's disease, Pediatrics, Cohort Studies, Behçet’s disease, Biological Factors, 0302 clinical medicine, Epidemiology, Immunology and Allergy, Longitudinal Studies, Registries, 030212 general & internal medicine, Behçet’s disease, Children, Clinical features, Diagnostic criteria, Treatment, Pediatrics, Perinatology and Child Health, Rheumatology, Immunology and Allergy, Child, Children, Behçet's disease, Clinical features, Treatment, Adolescent, Behcet Syndrome, Cross-Sectional Studies, Female, Glucocorticoids, Humans, Immunosuppressive Agents, Italy, Pediatrics, Perinatology and Child Health, Rheumatology, education.field_of_study, lcsh:RJ1-570, Perinatology and Child Health, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Cohort, Research Article, Cohort study, medicine.medical_specialty, Population, BehÃ§et's disease, 03 medical and health sciences, Internal medicine, medicine, education, 030203 arthritis & rheumatology, business.industry, lcsh:Pediatrics, medicine.disease, Clinical feature, Etiology, lcsh:RC925-935, business
Abstract: Background Behçet’s disease is a rare multi-systemic inflammatory disease with unknown etiology which involves principally oral and genital mucosa, skin and eyes. Average age at onset of the disease is about 25-30 years, but it may be diagnosed before the age of 16. It is not very rare in Italy, even though there are limited data concerning epidemiology. Aim of this study is to describe the baseline data of an Italian cohort of patients with as having BD or probable BD. Methods We described the baseline data of the first national epidemiological study on children coming from 16 Italian Pediatric Rheumatologic Centers diagnosed by the treating physicians as having Behçet’s Disease. Data on demographic characteristics, clinical features and therapy were collected. We then compared our findings to those of international pediatric cohort studies and also retrospectively evaluated the ability to diagnose BD using ISG, ICBD and, for the first time, the new PEDBD criteria. Results The study included 110 patients (62 M, 48F). Average age at onset was 8.34±4.11 years. The frequencies of signs/symptoms were: recurrent oral aphtosis 94.5%, genital ulcers 33.6%, ocular 43.6%, gastrointestinal 42.7%, musculoskeletal 42.7%, neurological 30.9% and vascular involvement 10%. Thirty-two patients (29.1%) fulfilled ISG, 78 (70.9%) ICBD, 50 (45.5%) PEDBD criteria and 31 (28%) didn’t fulfill any of them. The most frequently used treatments were colchicine and corticosteroids followed by immunosuppressants. Four patients received biologic therapy (anti TNF-α and anti-IL-1) to treat severe organ involvement. Conclusions Recurrent oral aphtosis was the most frequent clinical manifestation, followed by ocular involvement. Gastrointestinal lesions were more frequent in Italy than in non-European countries as opposed to genital ulcers. Skin, ocular and vascular manifestations had a higher frequency in males and genital ulcers in females. Constitutional symptoms were present in 44.5% and recurrent fever in one third of our population.
Published: 2017

28. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

Author: Alberto Vitali, Federica Ortolani, Roberto Rusconi, Srdjan Pasic, Rosa Bacchetta, Fabio Buzi, Donatella Capalbo, Annarosa Soresina, Andrea Taddio, Vassilios Lougaris, Claudio Pignata, Lucia Dora Notarangelo, Mariacarolina Salerno, Małgorzata Pac, Giorgio Radetti, Monique de Vroede, Giuseppe Maggiore, Silvana Martino, Sanal Ozden, Raffaele Badolato, Nella Augusta Greggio, Giovanna Weber, Cinzia Mazza, Alessandro Plebani, Sara Sebnem Kilic, Luigi D. Notarangelo, Mazza, C., Buzi, Paola, Ortolani, F., Karabchuk, Vitali, Notarangelo, L. D., Weber, G., Bacchetta, R., Soresina, A., Lougaris, V., Greggio, N., Taddio, A., Pasic, S., de Vroede, M., Pac, M., Kilic, S. S., Ozden, S., Rusconi, R., Martino, S., Capalbo, D., Salerno, M., Pignata, C., Radetti, G., Maggiore, G., Plebani, A., Notarangelo, Ld., Badolato, R., Çocuk Sağlığı ve Hastalıkları, Buzi, F., Vitali, A., Greggio, N. A., Taddio, Andrea, Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı., Kılıç, Sara Şebnem, AAH-1658-2021, Mazza, C, Buzi, F, Ortolani, F, Vitali, A, Notarangelo, Ld, Weber, Giovanna, Bacchetta, R, Soresina, A, Lougaris, V, Greggio, Na, Taddio, A, Pasic, S, de Vroede, M, Pac, M, Kilic, S, Ozden, S, Rusconi, R, Martino, S, Capalbo, D, Salerno, M, Pignata, C, Radetti, G, Maggiore, G, and Plebani, A
Subjects: Time Factors, Autoimmunity, Endocrinopathy, Disease, Type-1, medicine.disease_cause, Mucocutaneous Candidiasis, Homozygosity, Genetic heterogeneity, 0302 clinical medicine, Immunology and Allergy, Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy, Chronic mucocutaneous candidiasis, Child, Polyendocrinopathies, Autoimmune, Priority journal, 0303 health sciences, Heterozygosity, Candidiasis, Genetic analysis, Homozygote, Autoimmune polyendocrinopathy, Middle Aged, Autoimmune regulator, Common, 3. Good health, Child, Preschool, APECED, diagnostic tool, children, Mutations, diagnostic tool, Human, Adult, Heterozygote, animal structures, Adolescent, Clinical article, Immunology, Socio-culturale, 030209 endocrinology & metabolism, APECED, DIAGNOSIS, DIAGNOSIS, Article, 03 medical and health sciences, Young Adult, children, medicine, Humans, Gene mutation, Preschool, Autoantibodies, 030304 developmental biology, Gene amplification, Hepatitis, business.industry, Protein, Dystrophy, Disease type-ı, medicine.disease, Polyendocrinopathies, Autoimmune regulator protein, Preschool child, Regulator aire gene, Type 1 Autoimmune Polyendocrinopathy Syndrome, Regulator, Central Tolerance, Mutation, Genetic association, School child, business, Autoimmune, APECED
Abstract: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive organ-specific autoimmune disorder that is characterized by a variable combination of (i) chronic mucocutaneous candidiasis, (ii) polyendocrinopathy and/or hepatitis and (iii) dystrophy of the dental enamel and nails. We analyzed the AIRE (autoimmune regulator) gene in subjects who presented any symptom that has been associated with APECED, including candidiasis and autoimmune endocrinopathy. We observed that 83.3% of patients presented at least two of the three typical manifestations of APECED, while the remaining 16.7% of patients showed other signs of the disease. Analysis of the genetic diagnosis of these subjects revealed that a considerable delay occurs in the majority of patients between the appearance of symptoms and the diagnosis. Overall, the mean diagnostic delay in our patients was 10.2 years. These results suggest that molecular analysis of AIRE should be performed in patients with relapsing mucocutaneous candidiasis for early identification of APECED. Fondazione Cariplo Fondazione Telethon European Commission (FP7 HLH-cure) (201461) Ministry of Education, Universities and Research (MIUR) Research Projects of National Relevance (PRIN) (2007ACZMMZ_005) Seventh Framework Programme (201461)
Published: 2011

29. Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency

Author: Sara Signa, Carlo Gandolfo, Isabella Ceccherini, Giovanni Conti, Silvana Martino, A.F. Geraldo, R. Ammendola, Andrea Rossi, Antonella Insalaco, Roberta Caorsi, Domenico Tortora, Mariasavina Severino, Marco Gattorno, M Alessio, Serena Pastore, Geraldo, Af, Caorsi, R, Tortora, D, Gandolfo, C, Ammendola, R, Alessio, M, Conti, G, Insalaco, A, Pastore, S, Martino, S, Ceccherini, I, Signa, S, Gattorno, M, Rossi, A, and Severino, M.
Subjects: Male, Adenosine Deaminase 2 Deficiency, Pathology, medicine.medical_specialty, Disease onset, Adolescent, Adenosine Deaminase, Neuroimaging, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, Basal (phylogenetics), 0302 clinical medicine, Agammaglobulinemia, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Family history, business.industry, Brain, Magnetic Resonance Imaging, Phenotype, Spinal Cord, Female, Severe Combined Immunodeficiency, Tumor necrosis factor alpha, Neurology (clinical), Genetic diagnosis, business, 030217 neurology & neurosurgery
Abstract: SUMMARY: Adenosine deaminase 2 deficiency (OMIM #615688) is an autosomal recessive disorder characterized by a wide clinical spectrum, including small- and medium-sized vessel vasculopathies, but data focusing on the associated neuroimaging features are still scarce in the literature. Here, we describe the clinical neuroimaging features of 12 patients with genetically proven adenosine deaminase 2 deficiency (6 males; median age at disease onset, 1.3 years; median age at genetic diagnosis, 15.5 years). Our findings expand the neuroimaging phenotype of this condition demonstrating, in addition to multiple, recurrent brain lacunar ischemic and/or hemorrhagic strokes, spinal infarcts, and intracranial aneurysms, also cerebral microbleeds and a peculiar, likely inflammatory, perivascular tissue in the basal and peripontine cisterns. Together with early clinical onset, positive family history, inflammatory flares and systemic abnormalities, these findings should raise the suspicion of adenosine deaminase 2 deficiency, thus prompting genetic evaluation and institution of tumor necrosis factor inhibitors, with a potential great impact on neurologic outcome.
Published: 2021
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30. Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis

Author: Claudio Graziano, Luca Spinardi, S. De Martino, Luca Faccioli, Gianfranco Vornetti, M. Pastore Trossello, Andrea Donti, R. Golfieri, Elisabetta Mariucci, Spinardi, L., Vornetti, G., De Martino, S., Golfieri, R., Faccioli, L., Pastore Trossello, M., Graziano, C., Mariucci, E., and Donti, A.
Subjects: Marfan syndrome, Adult, Male, medicine.medical_specialty, Intraclass correlation, Connective tissue, Tortuosity, Loeys–Dietz syndrome, Pediatrics, 030218 nuclear medicine & medical imaging, Marfan Syndrome, Diagnosis, Differential, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Image Interpretation, Computer-Assisted, medicine, Humans, Radiology, Nuclear Medicine and imaging, Retrospective Studies, Loeys-Dietz Syndrome, Tortuosity Index, business.industry, Brain, Reproducibility of Results, Intracranial Arterial Tortuosity, Arteries, Differential Diagnosis, Middle Aged, medicine.disease, Connective tissue disease, Comorbidity, Cerebral Angiography, medicine.anatomical_structure, Cardiology, Female, Neurology (clinical), Differential diagnosis, business, 030217 neurology & neurosurgery, Magnetic Resonance Angiography
Abstract: BACKGROUND AND PURPOSE: The association of arterial tortuosity and connective tissue diseases is widely reported in the literature, but only a few studies were based on a quantitative evaluation of this arterial phenotype, and none of the latter examined the intracranial vasculature. The aim of this study was to evaluate the degree of intracranial arterial tortuosity in patients with Marfan syndrome and those with Loeys-Dietz syndrome, and to assess its usefulness in the differential diagnosis. MATERIALS AND METHODS: We performed a retrospective analysis of 68 patients with genetically confirmed Marfan syndrome (n = 36) or Loeys-Dietz syndrome (n = 32), who underwent at least 1 MRA of the brain at our institution. Fifty-two controls were randomly selected among patients who presented with headache and without any known comorbidity. Tortuosity indexes of 4 intracranial arterial segments were measured on a 3D volume-rendered angiogram by using the following formula: ( centerline length straight ‐ line length − 1 ) × 100 . RESULTS: Both Marfan syndrome and Loeys-Dietz syndrome showed a significantly higher tortuosity index compared with controls in all examined vessels. The tortuosity index of the vertebrobasilar system showed an excellent interrater reliability (intraclass correlation coefficient, 0.99) and was the strongest independent predictor of Loeys-Dietz syndrome in patients with connective tissue disease (P = .002), with a 97% specificity for this pathology when its value was > 60. CONCLUSIONS: The tortuosity index of intracranial arteries is an easily calculated and highly reproducible measure, which shows a high specificity for Marfan syndrome and Loeys-Dietz syndrome and may be useful in differentiating these 2 entities.
Published: 2020

31. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality

Author: Ludovica Crescenzi, Emilia Cirillo, Alessio Benvenuto, Fabio Cardinale, Andrea Pession, Federica Pulvirenti, Simona Ferrari, Maria Caterina Putti, Giovanna Fabio, Rita Consolini, Fausto Cossu, Andrea Finocchi, Stefano Volpi, Angelo Vacca, Carolina Marasco, Marco Zecca, Claudio Pignata, Viviana Moschese, Gigliola Di Matteo, Lucia Leonardi, Raffaele Badolato, Marzia Duse, A G Ugazio, Manuela Baronio, Maddalena Marinoni, Chiara Azzari, Sara Signa, Silvana Martino, Maria Licciardello, Rosa Maria Dellepiane, Lucia Augusta Baselli, Luisa Gazzurelli, Giuseppe Spadaro, Claudio Lunardi, Cinzia Milito, Baldassare Martire, Alessandro Plebani, Francesca Conti, Caterina Cancrini, Maria Carrabba, Patrizia Bertolini, Francesco Cinetto, Davide Montin, Antonino Trizzino, Isabella Quinti, Vassilios Lougaris, Annarosa Soresina, Silvia Ricci, Silvia Giliani, Lougaris, V., Soresina, A., Baronio, M., Montin, D., Martino, S., Signa, S., Volpi, S., Zecca, M., Marinoni, M., Baselli, L. A., Dellepiane, R. M., Carrabba, M., Fabio, G., Putti, M. C., Cinetto, F., Lunardi, C., Gazzurelli, L., Benvenuto, A., Bertolini, P., Conti, F., Consolini, R., Ricci, S., Azzari, C., Leonardi, L., Duse, M., Pulvirenti, F., Milito, C., Quinti, I., Cancrini, C., Finocchi, A., Moschese, V., Cirillo, E., Crescenzi, L., Spadaro, G., Marasco, C., Vacca, A., Cardinale, F., Martire, B., Trizzino, A., Licciardello, M., Cossu, F., Di Matteo, G., Badolato, R., Ferrari, S., Giliani, S., Pession, A., Ugazio, A., Pignata, C., and Plebani, A.
Subjects: Lung Diseases, Male, 0301 basic medicine, Pediatrics, X-linked agammaglobulinemia, Bruton tyrosine kinase, 0302 clinical medicine, Bruton’s tyrosin kinase, Agammaglobulinemia, Immunology and Allergy, Medicine, Child, biology, Incidence (epidemiology), Chronic sinusitis, Genetic Diseases, X-Linked, Middle Aged, Settore MED/38, Natural history, Italy, chronic lung disease, Genetic Diseases, Child, Preschool, Adolescent, Adult, Follow-Up Studies, Humans, Infant, Infant, Newborn, Infections, Sinusitis, Survival Analysis, Young Adult, Antibody, medicine.medical_specialty, Long term follow up, Immunology, 03 medical and health sciences, Preschool, business.industry, X-Linked, Newborn, medicine.disease, 030104 developmental biology, Lung disease, Primary immunodeficiency, biology.protein, business, 030215 immunology
Abstract: Background X-linked agammaglobulinemia (XLA) is the prototype of primary humoral immunodeficiencies. Long-term follow-up studies regarding disease-related complications and outcome are scarce. Objective Our aim was to describe the natural history of XLA. Methods A nationwide multicenter study based on the Italian Primary Immunodeficiency Network registry was established in 2000 in Italy. Affected patients were enrolled by documenting centers, and the patients' laboratory, clinical, and imaging data were recorded on an annual base. Results Data on the patients (N = 168) were derived from a cumulative follow-up of 1370 patient-years, with a mean follow-up of 8.35 years per patient. The mean age at diagnosis decreased after establishment of the Italian Primary Immunodeficiency Network registry (84 months before vs 23 months after). Respiratory, skin, and gastrointestinal manifestations were the most frequent clinical symptoms at diagnosis and during long-term follow-up. Regular immunoglobulin replacement treatment reduced the incidence of invasive infections. Affected patients developed chronic lung disease over time (47% after 40 years of follow-up) in the presence of chronic sinusitis (84%). Malignancies were documented in a minority of cases (3.7%). Overall survival for affected patients was significantly reduced when compared with that for the healthy male Italian population, and it further deteriorated in the presence of chronic lung disease. Conclusions This is the first detailed long-term follow-up study for patients with XLA, revealing that although immunoglobulin replacement treatment reduces the incidence of invasive infections, it does not appear to influence the development of chronic lung disease. The overall survival of affected patients is reduced. Further studies are warranted to improve patients' clinical management and increase awareness among physicians.
Published: 2020

32. Industrial Internet of Things: Persistence for Time Series with NoSQL Databases

Author: Sergio Di Martino, Luca Fiadone, Adriano Peron, Vincenzo Norman Vitale, Alberto Riccabone, Sumitra Reddy, Di Martino, S., Fiadone, L., Peron, A., Vitale, V. N., and Riccabone, A.
Subjects: Big Data, IoT, Gigabyte, Database, Series (mathematics), Computer science, business.industry, Big data, Time Series, Context (language use), NoSQL, computer.software_genre, Data retrieval, Industrial Internet, Internet of Things, business, computer
Abstract: With the advent of Internet of Things (IoT) tech-nologies, there is a rapidly growing number of connected devices, producing more and more data, potentially useful for a large number of applications. The streams of data coming from each connected device can be seen as collections of Time Series, which need proper techniques to guarantee their persistence. In particular, these solutions must be able to provide both an effective data ingestion and data retrieval, which are challenging tasks. This problem is particularly sensible in the Industrial IoT (IIoT) context, given the potentially great number of equipment that could be instrumented with sensors generating time series. In this study we present the results of an empirical comparison of three NoSQL Database Management Systems, namely Cassandra, MongoDB and InfluxDB, in maintaining and retrieving gigabytes of real IIoT data, collected from an instrumented dressing machine. Results show that, for our specific Time Series dataset, InfluxDB is able to outperform Cassandra in all the considered tests, and has better overall performance respect to MongoDB.
Published: 2019
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33. Calcitonin negative Medullary Thyroid Carcinoma: A challenging diagnosis or a medical dilemma?

Author: Ernesto Tartaglia, Alessandra Conzo, Giovanni Docimo, Francesco Di Capua, Claudio Mauriello, Giovanni Conzo, Roberto Maria Romano, Sergio Di Martino, Guglielmo Clarizia, R. Patrone, Lorenzo Fiore, Chiara Offi, Claudio Gambardella, Gambardella, C., Offi, C., Patrone, R., Clarizia, G., Mauriello, C., Tartaglia, E., Di Capua, F., Di Martino, S., Romano, R. M., Fiore, L., Conzo, A., Conzo, G., and Docimo, G.
Subjects: Calcitonin, Adult, Male, Pathology, medicine.medical_specialty, Medullary cavity, Prognosi, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Calcitonin negative, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Procalcitonin, Follow-Up Studie, Thyroid carcinoma, 03 medical and health sciences, 0302 clinical medicine, Carcinoembryonic antigen, Meta-Analysis as Topic, Medullary thyroid carcinoma, Medicine, Humans, Chromogranin a, 030212 general & internal medicine, Thyroid Neoplasms, Thyroid Nodule, Thyroid cancer, Thyroid Neoplasm, Aged, Aged, 80 and over, lcsh:RC648-665, biology, business.industry, Research, Thyroid, Chromogranin A, General Medicine, Middle Aged, medicine.disease, Prognosis, Carcinoma, Neuroendocrine, medicine.anatomical_structure, biology.protein, Female, business, Follow-Up Studies, Human
Abstract: Background Medullary thyroid carcinoma is a neuroendocrine tumor belonging form a malignant growth of the thyroid parafollicular C-cells, representing from 1 to 10% of all thyroid cancer. The biochemical activity of medullary thyroid carcinoma includes the production of calcitonin and carcinoembryogenic antigen, which are sensitive tumor markers, facilitating the diagnosis, follow-up and prognostication. The diagnosis is reached through the identification of high basal calcitonin serum level or after pentagastrin stimulation test. Medullary thyroid carcinoma is able to produce other relevant biomarkers as procalcitonin, carcinoembryionic antigen and chromogranin A. In Literature are described few cases of medullary thyroid carcinoma without elevation of serum calcitonin, an extremely rare event. The aim of this study was to analyse the presentation, the main features and therapeutic management of medullary thyroid carcinoma associated with negative serum calcitonin levels. Methods Using the PubMed database, a systematic review of the current Literature was carried out, up to February 2018. Finally, nineteen articles met our inclusion criteria and were selected according to the modified Newcastle-Ottawa scale. Results Fourty-nine patients with definitive pathology confirming medullary thyroid carcinoma and with calcitonin serum level in the normal range were identified (24 female, 24 male and not reported gender in 1 case). Mean age was 51.7 years. Serum calcitonin levels were reported for 20 patients with a mean value of 8.66 pg/mL and a range of 0.8–38 pg/mL. Despite the low or undetectable calcitonin serum level, at immunochemistry in almost the half of the cases reported by the Authors, the tumors presented diffuse or focal positivity for calcitonin and carcinoembryionic antigen, while was reported a chromogranin A positivity in 41 of the 43 tested patients. Conclusions Calcitonin negative medullary thyroid carcinoma is an extremely rare pathology. The diagnosis and the surveillance is often challenging and delayed, due to the lack of elevation of serum markers as calcitonin and carcinoembryionic antigen. Further studies are needed, to better define options for management of non secretory medullary thyroid carcinoma and to identify new and reliable biomarkers associated to diagnosis and relapse of this medical dilemma.
Published: 2019

34. Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: Report of the italian primary immunodeficiency network

Author: Maria Caterina Putti, Fernando Specchia, Andrea Pession, Alberto Tommasini, Paolo Rossi, Alessandro Aiuti, Andrea Finocchi, Emilia Cirillo, Federica Barzaghi, Caterina Cancrini, Alessandro Plebani, Davide Montin, Irene D'Alba, Baldassarre Martire, Silvana Martino, Raffaele Badolato, Rita Consolini, Gigliola Di Matteo, Franco Locatelli, Paolo Pierani, Federica Esposito, Chiara Azzari, Enrico Attardi, Claudio Pignata, Antonio Marzollo, Silvia Giliani, Samuele Naviglio, Maria Pia Cicalese, Giuliana Giardino, Giuseppe Quaremba, Vassilios Lougaris, Rosaria Prencipe, Alessia Scarselli, Silvia Ricci, Fiorentino Grasso, Cirillo, E., Cancrini, C., Azzari, C., Martino, S., Martire, B., Pession, A., Tommasini, A., Naviglio, S., Finocchi, A., Consolini, R., Pierani, P., D'Alba, I., Putti, M. C., Marzollo, A., Giardino, G., Prencipe, R., Esposito, F., Grasso, F., Scarselli, A., Di Matteo, G., Attardi, E., Ricci, S., Montin, D., Specchia, F., Barzaghi, F., Cicalese, M. P., Quaremba, G., Lougaris, V., Giliani, S., Locatelli, F., Rossi, P., Aiuti, A., Badolato, R., Plebani, A., Pignata, C., Cirillo, Emilia, Cancrini, Caterina, Azzari, Chiara, Martino, Silvana, Martire, Baldassarre, Pession, Andrea, Tommasini, Alberto, Naviglio, Samuele, Finocchi, Andrea, Consolini, Rita, Pierani, Paolo, D'Alba, Irene, Putti, Maria Caterina, Marzollo, Antonio, Giardino, Giuliana, Prencipe, Rosaria, Esposito, Federica, Grasso, Fiorentino, Scarselli, Alessia, Di Matteo, Gigliola, Attardi, Enrico, Ricci, Silvia, Montin, Davide, Specchia, Fernando, Barzaghi, Federica, Cicalese, Maria Pia, Quaremba, Giuseppe, Lougaris, Vassilio, Giliani, Silvia, Locatelli, Franco, Rossi, Paolo, Aiuti, Alessandro, Badolato, Raffaele, Plebani, Alessandro, and Pignata, Claudio
Subjects: 0301 basic medicine, Male, Severe combined immunodeficiencie, Atypical SCID, Lymphopenia, Maternal engraftment, Next generation sequencing, Omenn syndrome, Primary immunodeficiencies, Severe combined immunodeficiencies, T-cell defects, Pediatrics, atypical SCID, Disease, lymphopenia, maternal engraftment, next generation sequencing, primary immunodeficiencies, severe combined immunodeficiencies, Cohort Studies, 0302 clinical medicine, Primary immunodeficiencie, Immunology and Allergy, Longitudinal Studies, Prospective Studies, Age of Onset, Child, Original Research, T-cell defect, Syndrome, Settore MED/38, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Italy, Child, Preschool, Cohort, Female, lcsh:Immunologic diseases. Allergy, medicine.medical_specialty, Genotype, Immunology, 03 medical and health sciences, Combined immunodeficiencies, omenn syndrome, Intensive care, medicine, Humans, Retrospective Studies, Newborn screening, Severe combined immunodeficiency, business.industry, Infant, medicine.disease, 030104 developmental biology, Primary immunodeficiency, Severe Combined Immunodeficiency, business, lcsh:RC581-607, 030215 immunology
Abstract: Severe combined immunodeficiencies (SCIDs) are a group of inborn errors of the immune system, usually associated with severe or life-threatening infections. Due to the variability of clinical phenotypes, the diagnostic complexity and the heterogeneity of the genetic basis, they are often difficult to recognize, leading to a significant diagnostic delay (DD). Aim of this study is to define presenting signs and natural history of SCID in a large cohort of patients, prior to hematopoietic stem cell or gene therapies. To this purpose, we conducted a 30-year retro-prospective multicenter study within the Italian Primary Immunodeficiency Network. One hundred eleven patients, diagnosed as typical or atypical SCID according to the European Society for Immune Deficiencies criteria, were included. Patients were subsequently classified based on the genetic alteration, pathogenic mechanism and immunological classification. A positive relationship between the age at onset and the DD was found. SCID patients with later onset were identified only in the last decade of observation. Syndromic SCIDs represented 28% of the cohort. Eight percent of the subjects were diagnosed in Intensive Care Units. Fifty-three percent had an atypical phenotype and most of them exhibited a discordant genotype-immunophenotype. Pre-treatment mortality was higher in atypical and syndromic patients. Our study broadens the knowledge of clinical and laboratory manifestations and genotype/phenotype correlation in patients with SCID and may facilitate the diagnosis of both typical and atypical forms of the disease in countries where newborn screening programs have not yet been implemented.
Published: 2019

35. The multifaceted presentation of chronic recurrent multifocal osteomyelitis: A series of 486 cases from the Eurofever international registry

Author: Nicolino Ruperto, Alberto Martini, Michael Hofer, Susanne Schalm, Sulaiman M. Al-Mayouf, Maria Alessio, Susan Nielsen, Christina Boros, Pierre Quartier, Denise Pires Marafon, Martina Finetti, Francesca Orlando, Tobias Schwarz, Hermann J. Girschick, Marco Cattalini, Antonella Insalaco, Marco Gattorno, Silvana Martino, Annette Jansson, Troels Herlin, Gerd Ganser, Jordi Anton, Isabelle Koné-Paut, Jasmin B Kuemmerle-Deschner, Girschick, H., Finetti, M., Orlando, F., Schalm, S., Insalaco, A., Ganser, G., Nielsen, S., Herlin, T., Kone-Paut, I., Martino, S., Cattalini, M., Anton, J., Al-Mayouf, S. M., Hofer, M., Quartier, P., Boros, C., Kuemmerle-Deschner, J., Marafon, D. P., Alessio, M., Schwarz, T., Ruperto, N., Martini, A., Jansson, A., Gattorno, M., Girschick, Hermann, Finetti, Martina, Orlando, Francesca, Schalm, Susanne, Insalaco, Antonella, Ganser, Gerd, Nielsen, Susan, Herlin, Troel, Koné-Paut, Isabelle, Martino, Silvana, Cattalini, Marco, Anton, Jordi, Mohammed Al-Mayouf, Sulaiman, Hofer, Michael, Quartier, Pierre, Boros, Christina, Kuemmerle-Deschner, Jasmin, Pires Marafon, Denise, Alessio, Maria, Schwarz, Tobia, Ruperto, Nicolino, Martini, Alberto, Jansson, Annette, and Gattorno, Marco
Subjects: myalgia, medicine.medical_specialty, Autoinflammatory disease, Registry, Autoinflammatory diseases, Mucocutaneous zone, treatment, 03 medical and health sciences, 0302 clinical medicine, Magnetic resonance imaging, Rheumatology, Papulopustular, Internal medicine, Psoriasis, medicine, Bisphosphonate, Pharmacology (medical), 030212 general & internal medicine, Bone inflammation, 030203 arthritis & rheumatology, Anakinra, business.industry, Osteomyelitis, Chronic recurrent multifocal osteomyelitis, Chronic recurrent multifocal osteomyeliti, Bisphosphonates, Chronic non-bacterial osteomyeliti, medicine.disease, Dermatology, Treatment, Palmoplantar pustulosis, Palmoplantar pustulosi, Chronic non-bacterial osteomyelitis, SAPHO, medicine.symptom, business, medicine.drug
Abstract: Objectives: Chronic non-bacterial osteomyelitis (CNO) or chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory disorder characterized by sterile bone osteolytic lesions. The aim of this study was to evaluate the demographic data and clinical, instrumental and therapeutic features at baseline in a large series of CNO/CRMO patients enrolled in the Eurofever registry.Methods: A web-based registry collected retrospective data on patients affected by CRMO/CNO. Both paediatric and adult centres were involved.Results: Complete baseline information on 486 patients was available (176 male, 310 female). The mean age of onset was 9.9 years. Adult onset (>18 years of age) was observed in 31 (6.3%) patients. The mean time from disease onset to final diagnosis was 1 year (range 0-15). MRI was performed at baseline in 426 patients (88%), revealing a mean number of 4.1 lesions. More frequent manifestations not directly related to bone involvement were myalgia (12%), mucocutaneous manifestations (5% acne, 5% palmoplantar pustulosis, 4% psoriasis, 3% papulopustular lesions, 2% urticarial rash) and gastrointestinal symptoms (8%). A total of 361 patients have been treated with NSAIDs, 112 with glucocorticoids, 61 with bisphosphonates, 58 with MTX, 47 with SSZ, 26 with anti-TNF and 4 with anakinra, with a variable response.Conclusion: This is the largest reported case series of CNO patients, showing that the range of associated clinical manifestations is rather heterogeneous. The study confirms that the disease usually presents with an early teenage onset, but it may also occur in adults, even in the absence of mucocutaneous manifestations.
Published: 2018
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36. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study

Author: Angelo Ravelli, Alessia Omenetti, Carlo Gandolfo, Gianluca Damonte, Isabella Ceccherini, Alessia Morreale, Federica Penco, Silvana Martino, Clara Malattia, Alice Grossi, Claudia Ventrici, Marco Gattorno, M Pardeo, Francesca Schena, Annalisa Salis, Mariasavina Severino, Giovanni Conti, Rosa A. Podda, Qing Zhou, Alberto Tommasini, Antonella Insalaco, Romina Gallizi, Fernanda Falcini, Federico Marchetti, Roberta Caorsi, Alberto Martini, Paolo Picco, Maria Alessio, Chiara Passarelli, Francesca Garbarino, Ivona Aksentijevich, Caorsi, R., Penco, F., Grossi, A., Insalaco, A., Omenetti, A., Alessio, M., Conti, G., Marchetti, F., Picco, P., Tommasini, A., Martino, S., Malattia, C., Gallizi, R., Podda, R. A., Salis, A., Falcini, F., Schena, F., Garbarino, F., Morreale, A., Pardeo, M., Ventrici, C., Passarelli, C., Zhou, Q., Severino, M., Gandolfo, C., Damonte, G., Martini, A., Ravelli, A., Aksentijevich, I., Ceccherini, I., and Gattorno, M.
Subjects: 0301 basic medicine, Adenosine Deaminase 2 Deficiency, Anti-TNF, Fever Syndromes, Gene Polymorphism, Adenosine Deaminase, Adolescent, Age of Onset, Case-Control Studies, Child, Child, Preschool, DNA Mutational Analysis, Female, Heterozygote, Homozygote, Humans, Immunoglobulins, Immunosuppressive Agents, Infant, Intercellular Signaling Peptides and Proteins, Italy, Livedo Reticularis, Male, Pedigree, Polyarteritis Nodosa, Stroke, Thalidomide, Tumor Necrosis Factor-alpha, Young Adult, Pathology, Anti-TNF, Fever Syndromes, Gene Polymorphism, Compound heterozygosity, Gastroenterology, Immunosuppressive Agent, 0302 clinical medicine, Adenosine deaminase, Livedo Reticulari, Intercellular Signaling Peptides and Protein, Immunology and Allergy, Medicine, Livedo reticularis, biology, medicine.symptom, Case-Control Studie, Human, medicine.medical_specialty, Immunology, Context (language use), General Biochemistry, Genetics and Molecular Biology, DNA Mutational Analysi, 03 medical and health sciences, Fever Syndrome, Rheumatology, Internal medicine, Immunoglobulin, Preschool, 030203 arthritis & rheumatology, business.industry, Polyarteritis nodosa, Case-control study, medicine.disease, 030104 developmental biology, biology.protein, Age of onset, business
Abstract: Objectives To analyse the prevalence of CECR1 mutations in patients diagnosed with early onset livedo reticularis and/or haemorrhagic/ischaemic strokes in the context of inflammation or polyarteritis nodosa (PAN). Forty-eight patients from 43 families were included in the study. Methods Direct sequencing of CECR1 was performed by Sanger analysis. Adenosine deaminase 2 (ADA2) enzymatic activity was analysed in monocyte isolated from patients and healthy controls incubated with adenosine and with or without an ADA1 inhibitor. Results Biallelic homozygous or compound heterozygous CECR1 mutations were detected in 15/48 patients. A heterozygous disease-associated mutation (p.G47V) was observed in two affected brothers. The mean age of onset of the genetically positive patients was 24 months (6 months to 7 years). Ten patients displayed one or more cerebral strokes during their disease course. Low immunoglobulin levels were detected in six patients. Thalidomide and anti-TNF (tumour necrosis factor) blockers were the most effective drugs. Patients without CECR1 mutations had a later age at disease onset, a lower prevalence of neurological and skin manifestations; one of these patients displayed all the clinical features of adenosine deaminase 2deficiency (DADA2) and a defective enzymatic activity suggesting the presence of a missed mutation or a synthesis defect. Conclusions DADA2 accounts for paediatric patients diagnosed with PAN-like disease and strokes and might explain an unrecognised condition in patients followed by adult rheumatologist. Timely diagnosis and treatment with anti-TNF agents are crucial for the prevention of severe complications of the disease. Functional assay to measure ADA2 activity should complement genetic testing in patients with non-confirming genotypes.
Published: 2017

37. Chronic nonbacterial osteomyelitis may be associated with renal disease and bisphosphonates are a good option for the majority of patients

Author: Loredana Lepore, Lorenzo Monasta, Valeria Gerloni, B Teruzzi, Marco Cattalini, Antonella Meini, Maria Alessio, Giovanna Ferrara, Serena Pastore, Francesco La Torre, Luciana Breda, Silvana Martino, Andrea Taddio, Pastore, Serena, Ferrara, Giovanna, Monasta, Lorenzo, Meini, Antonella, Cattalini, Marco, Martino, Silvana, Alessio, Maria, La Torre, Francesco, Teruzzi, Barbara, Gerloni, Valeria, Breda, Luciana, Taddio, Andrea, Lepore, Loredana, Pastore, S., Ferrara, G., Monasta, L., Meini, A., Cattalini, M., Martino, S., Alessio, M., La Torre, F., Teruzzi, B., Gerloni, V., Breda, L., Taddio, A., and Lepore, L.
Subjects: medicine.medical_specialty, Adolescent, Appendicular skeleton, Disease, Chronic nonbacterial osteomyelitis, Pediatrics, 03 medical and health sciences, Bone pain, 0302 clinical medicine, 030225 pediatrics, Internal medicine, medicine, Bisphosphonate, Humans, Risk factor, Preschool, Child, Children, Retrospective Studies, 030203 arthritis & rheumatology, Diphosphonates, Bisphosphonates, Chronic recurrent multifocal osteomyelitis, Pediatrics, Perinatology and Child Health, business.industry, Osteomyelitis, Chronic recurrent multifocal osteomyeliti, Child, Preschool, Chronic Disease, Kidney Diseases, Retrospective cohort study, General Medicine, Perinatology and Child Health, medicine.disease, Surgery, medicine.anatomical_structure, Chronic nonbacterial osteomyeliti, Cohort, medicine.symptom, business
Abstract: Aim The aim of this Italian study was to describe the clinical features, treatment options and outcomes of a cohort of patients with chronic nonbacterial osteomyelitis (CNO). Methods This was a retrospective cohort study. Laboratory data, diagnostic imaging, histological features and clinical course are reported. Results We enrolled 47 patients diagnosed with CNO. Bone pain was the leading symptom, and multifocal disease was present in 87% of the patients. The majority of the bone lesions were located in the appendicular skeleton (58%). Extraosseous manifestations were present in 34% of the patients, and renal involvement was detected in four patients. Inflammatory indices were increased in 80%, and bone x-rays were negative in 15% of the patients. Nonsteroidal anti-inflammatory drugs (NSAIDs) were the first therapy for all patients, achieving clinical remission in 27%. A good response to NSAIDs was significantly associated with a better prognosis. Bisphosphonates were used in 26 patients, with remission in 73%. Only six patients (13%), all with spine involvement, developed sequelae. Conclusion We found a possible association between CNO and renal disease. Bisphosphonates were more likely to lead to clinical remission when NSAIDs and corticosteroids had failed. Vertebral localisation was the only risk factor for potential sequelae.
Published: 2016

38. Pregnancy may favour the development of severe autoimmune central diabetes insipidus in women with vasopressin cell antibodies: description of two cases

Author: Annamaria De Bellis, Giuseppe Bellastella, A. Bizzarro, Ernesto Aitella, Domenico Cozzolino, Mariluce Barrasso, Sergio Di Martino, Katherine Esposito, Bellastella, Giuseppe, Bizzarro, Antonio, Aitella, E, Barrasso, M, Cozzolino, Domenico, Di Martino, S, Esposito, Katherine, and DE BELLIS, Annamaria
Subjects: Adult, Vasopressin, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, medicine.disease_cause, Autoimmune Disease, Autoimmunity, Autoimmune Diseases, Endocrinology, Pregnancy, Internal medicine, medicine, Humans, Deamino Arginine Vasopressin, Subclinical infection, Autoantibodies, Autoimmune disease, business.industry, Incidence (epidemiology), Medicine (all), General Medicine, medicine.disease, Autoantibodie, Arginine Vasopressin, Diabetes Insipidus, Neurogenic, Diabetes insipidus, Gestation, Female, business, Human
Abstract: Recently, an increased incidence of central diabetes insipidus (CDI) in pregnancy, and less frequently in thepost partumperiod, has been reported, most probably favoured by some conditions occurring in pregnancy. This study was aimed at investigating the influence of pregnancy on a pre-existing potential/subclinical hypothalamic autoimmunity. We studied the longitudinal behaviour of arginine–vasopressin cell antibodies (AVPcAbs) and post-pituitary function in two young women with a positive history of autoimmune disease and presence of AVPcAbs, but without clinical CDI, and who became pregnant 5 and 7 months after our first observation. The behaviour of post-pituitary function and AVPcAbs (by immunofluorescence) was evaluated at baseline, during pregnancy and for 2 years after delivery. AVPcAbs, present at low/middle titres at baseline in both patients, showed a titre increase during pregnancy in one patient and after delivery in the other patient, with development of clinically overt CDI. Therapy with 1-deamino-8-d-arginine vasopressin (DDAVP) caused a prompt clinical remission. After a first unsuccessful attempt of withdrawal, the therapy was definitively stopped at the 6th and the 7th month ofpost partumperiod respectively, when AVPcAbs disappeared, accompanied by post-pituitary function recovery, persisting until the end of the follow-up. The determination of AVPcAbs is advisable in patients with autoimmune diseases planning their pregnancy, because they could be considered good predictive markers of gestational orpost partumautoimmune CDI. The monitoring of AVPcAb titres and post-pituitary function during pregnancy in these patients may allow for an early diagnosis and an early replacement therapy, which could induce the disappearance of these antibodies with consequent complete remission of CDI.
Published: 2014

39. Comparison between rapid and slow palatal expansion: evaluation of selected periodontal indices

Author: Enrico Marchetti, Stefano Mummolo, Simona Tecco, Albani F, Filippo Pugliese, Vincenzo Campanella, Salvatore Di Martino, Giuseppe Marzo, Mummolo, S, Marchetti, E, Albani, F, Campanella, V, Pugliese, F, Di Martino, S, Tecco, Simona, and Marzo, G.
Subjects: Male, Palatal Expansion Technique, medicine.medical_specialty, Plaque index, Palatal expansion, Clinical Neurology, Dental Plaque, Dentistry, Pilot Projects, Dental plaque, medicine.disease_cause, Settore MED/28, Probing pocket depth, Papillary bleeding index, Humans, Orthodontic Appliance Design, Medicine, Periodontal Indices, Child, General Dentistry, Retrospective Studies, Periodontal indices, Dentistry(all), business.industry, Research, Retrospective cohort study, Periodontium, medicine.disease, Otorhinolaryngology, Oral and maxillofacial surgery, Female, Neurology (clinical), Periodontal Index, Irritation, business, Follow-Up Studies
Abstract: Objectives The aim of this pilot study was to evaluate the periodontal effects during rapid palatal expansion (RPE) or slow palatal expansion (SPE) and to compare them by means of some clinical indices, in order to establish the possible differences and advantages of one of these treatments in periodontal terms. Methods 10 patients (aged 6 to 7 years; average age 6.3 years) were submitted to RPE treatment and other 10 patients (aged 6 to 8 years, average age 6.3 years) to SPE treatment. They were treated with the Haas expander. The selected clinical indices (plaque index, PI; papillary bleeding index, PBI; probing pocket depth, PPD) were collected three times during the treatment (t0, detected 7 days after the periodontal prophylaxis, at the beginning of the active orthodontic therapy; t1, detected during the active therapy; t2, detected after retention). All measurements were performed by the same examiner. The protocol was approved by the ethics committee. Results The effects of the prophylaxis were excellent to control inflammation and dental plaque before the beginning of the orthodontic-orthopaedic treatment, as in both the two groups, the PI and the PBI values were equal to 0. In the group receiving slow expansion, the PPD remained unchanged from t0 to t1, while it significantly increased from t0 to t1 in the group of rapid expansion. At t2 the values of the two groups returned to be overlapping. Conclusions Both rapid and slow expansion treatments present potential irritation effect (increase of PI index and PBI index) on the periodontium, suggested by the significant increase of PI and PBI from t0 to t1 in both the two groups; therefore prophylaxis and periodic controls are very important. There are no long-term benefits that might be referred unequivocally to one of the two treatments in terms of periodontal consequences, as demonstrated by the lack of significant differences between the two groups at t2.
Published: 2014

40. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

Author: Haar, Nienke Ter, Lachmann, Helen, Özen, Seza, Woo, Pat, Uziel, Yosef, Modesto, Consuelo, Koné Paut, Isabelle, Cantarini, Luca, Insalaco, Antonella, Neven, Bénédicte, Hofer, Michael, Rigante, Donato, Al Mayouf, Sulaiman, Touitou, Isabelle, Gallizzi, Romina, Papadopoulou Alataki, Efimia, Martino, Silvana, Kuemmerle Deschner, Jasmin, Obici, Laura, Iagaru, Nicolae, Simon, Anna, Nielsen, Susan, Martini, Alberto, Ruperto, Nicolino, Gattorno, Marco, Frenkel, Joost, Kondi, A, De Cunto, C, Espada, G, Russo, R, Amaryan, G, Boros, C, Wouters, C, de Oliveira SK, Borzutzky, A, Jelusic Drazic, M, Dolezalova, P, Herlin, T, Desjonqueres, M, Djeddi, D, Hentgen, V, Darce, M, Ioseliani, M, Berendes, R, Horneff, G, Jansson, A, Minden, K, Schwarz, T, Trauzeddel, R, Kanakoudi Tsakalidou, F, Vougiouka, O, Constantin, T, Rao, Ap, Brik, R, Harel, L, Alessio, M, Breda, L, Cimaz, R, Consolini, Rita, Fabio, G, Garozzo, R, Lepore, L, Manna, R, Meini, A, Olivieri, An, Stanevicha, V, Rusoniene, S, Hoppenreijs, E, Al Abrawi Sy, Nikishina, I, Sewairi, Wm, Susic, G, Ciznar, P, Avcin, T, Anton, J, Bou, R, Merino, R, Elorduy, Mj, Fasth, A, Aksu, G, Demirkaya, E., Ter Haar, N., Lachmann, H., Özen, S., Woo, P., Uziel, Y., Modesto, C., Koné Paut, I., Cantarini, L., Insalaco, A., Neven, B., Hofer, M., Rigante, D., Al Mayouf, S., Touitou, I., Gallizzi, R., Papadopoulou Alataki, E., Martino, S., Kuemmerle Deschner, J., Obici, L., Iagaru, N., Simon, A., Nielsen, S., Martini, A., Ruperto, N., Gattorno, M., Frenkel, J., and Olivieri, Alma Nunzia
Subjects: Genetics and Molecular Biology (all), medicine.medical_specialty, PFAPA syndrome, Immunology, autoinflammatory diseases, Eurofever, Registry, Familial Mediterranean fever, Disease, Biochemistry, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, autoinflammatory disease, Internal medicine, Acne Vulgaris, medicine, Immunology and Allergy, Humans, Registries, 030304 developmental biology, 030203 arthritis & rheumatology, 0303 health sciences, Arthritis, Infectious, Mevalonate kinase deficiency, business.industry, Hyper-IgD syndrome, Arthritis, Settore MED/09 - MEDICINA INTERNA, Infectious, Cryopyrin-associated periodic syndrome, medicine.disease, Cryopyrin-Associated Periodic Syndromes, Pyoderma Gangrenosum, 3. Good health, Familial Mediterranean Fever, Pathogenesis and modulation of inflammation [N4i 1], Europe, TNF receptor associated periodic syndrome, Mevalonate Kinase Deficiency, Biochemistry, Genetics and Molecular Biology (all), business
Abstract: Item does not contain fulltext OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. RESULTS: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. CONCLUSIONS: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.
Published: 2013

41. Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?

Author: Anna Rosa Soresina, Valerio Sanguigni, Domenico De Mattia, Baldassarre Martire, Silvana Martino, Roberto Carnevale, Pasquale Pignatelli, Giuliana Giardino, Claudio Pignata, Paolo Rossi, Francesco Martino, Alessandro Plebani, Lorenzo Loffredo, Francesco Violi, Eleonora Gambineri, Maria Cristina Pietrogrande, Andrea Finocchi, Loffredo, L., Carnevale, R., Sanguigni, V., Plebani, A., Rossi, P., Pignata, Claudio, De Mattia, D., Finocchi, A., Martire, B., Pietrogrande, M. C., Martino, S., Gambineri, E., Giardino, Giuliana, Soresina, Ar, Martino, F., Pignatelli, P., and Violi, F.
Subjects: Male, Pathology, Physiology, Clinical Biochemistry, Vasodilation, isoprostane, NADPH Oxidase, atherosclerosis, NADPH oxidase, chronic granulomatous disease, Isoprostanes, medicine.disease_cause, Granulomatous Disease, Chronic, Biochemistry, Gastroenterology, Carotid Intima-Media Thickness, Chronic granulomatous disease, Chronic, Child, General Environmental Science, Membrane Glycoproteins, biology, artery, Young Adult, Humans, Carotid Arteries, Blood Platelets, Case-Control Studies, Adolescent, Female, medicine.anatomical_structure, NADPH Oxidase 2, cardiovascular system, Granulomatous Disease, hormones, hormone substitutes, and hormone antagonists, circulatory and respiratory physiology, Artery, medicine.medical_specialty, Urinary system, NADPH, Internal medicine, medicine, NADPH Oxidases, Molecular Biology, Settore MED/38 - Pediatria Generale e Specialistica, urogenital system, business.industry, Case-control study, Cell Biology, medicine.disease, biology.protein, General Earth and Planetary Sciences, business, Oxidative stress
Abstract: NADPH oxidase is known to modulate the arterial tone, but the role of its specific subunits is still unclear. The objective of this study was to compare the role of p47 and gp91phox (NOX2) on artery dilatation. We conducted a multicenter study enrolling 30 patients with chronic granulomatous disease (CGD) (25 with NOX2 deficiency and 5 with p47(phox) deficiency) and 30 healthy subjects (HS), matched for gender and age, in whom flow-mediated dilation (FMD), serum activity of NOX2 (soluble NOX2-derived peptide [sNOX2-dp]), urinary isoprostanes (8-iso-PGF2α), and platelet production of isoprostanes and NOX2 were determined. Compared to HS, patients with CGD had significantly higher FMD and lower sNOX2-dp and 8-iso-PGF2α levels. Compared to patients with NOX2 deficiency and HS, patients with p47(phox) hereditary deficiency had intermediate FMD and oxidative stress, that is, higher and lower FMD and lower and higher isoprostanes compared to HS and patients with NOX2 deficiency, respectively. In agreement with this finding, an ex vivo study showed higher inhibition of NOX2 activity and lower isoprostane formation in platelets from patients with NOX2 deficiency compared to platelets from ones with p47(phox) deficiency. Our observations lead to the hypothesis that oxidants are implicated in artery vasoconstriction.
Published: 2013

42. A long-term follow-up study of methotrexate in juvenile localized scleroderma (morphea)

Author: Mario Cutrone, Maria Alessio, Annalisa Patrizi, Fabio Vittadello, Cristina Vallongo, Silvana Martino, Valeria Gerloni, Francesco Zulian, Giorgia Martini, Anna Belloni-Fortina, Zulian F, Vallongo C, Patrizi A, Belloni-Fortina A, Cutrone M, Alessio M, Martino S, Gerloni V, Vittadello F, Martini G, Zulian, F., Vallongo, C., Patrizi, A., Belloni Fortina, A., Cutrone, A., Alessio, Maria, Martini, S., Gerloni, V., Vittadello, F., and Martini, G.
Subjects: safety, Male, medicine.medical_specialty, Time Factors, morphea, Dermatology, Gastroenterology, Scleroderma, law.invention, Scleroderma, Localized, Randomized controlled trial, Double-Blind Method, law, Prednisone, Internal medicine, medicine, Humans, Prospective Studies, Adverse effect, Prospective cohort study, Child, localized scleroderma, methotrexate, outcome, prednisone, thermography, business.industry, medicine.disease, Surgery, Discontinuation, Methotrexate, Female, business, Morphea, Immunosuppressive Agents, medicine.drug, Follow-Up Studies
Abstract: Background Recent studies report that methotrexate (MTX) is beneficial in the treatment of juvenile localized scleroderma (JLS) but little is known about its long-term effectiveness. Objective We assessed the therapeutic role of MTX in children with JLS who were followed up for a prolonged period. Methods A cohort of patients with JLS, previously enrolled in a double-blind, randomized controlled trial and treated with oral MTX (15 mg/m 2 /wk) and prednisone (1 mg/kg/d, maximum 50 mg) for the first 3 months, were prospectively followed up. Lesions were evaluated clinically, with infrared thermography, and by a computerized skin score. Response to treatment was defined as: (1) no new lesions; (2) skin score rate less than 1; and (3) decrease in lesion temperature by at least 10% compared with baseline. Clinical remission (CR) on medication was defined when response was maintained, on treatment, for at least 6 months, and complete CR when response was maintained, without treatment, for at least 6 months. Results Of 65 patients treated with MTX, 48 (73.8%) were responders, 10 (15.4%) relapsed by 24 months since MTX start, and 7 (10.8%) were lost to follow-up. Among the responders, 35 (72.9%) maintained CR for a mean of 25 months and 13 (27.1%) were in CR on medication. Adverse effects seen in 28 patients (48.3%) were generally mild and never required treatment discontinuation. Limitations The use of objective measures not widely available, such as infrared thermography and computerized skin score, makes it difficult to compare data from previous studies. Conclusions Long-term MTX therapy is beneficial and well tolerated for JLS.
Published: 2012

43. Public Stakeholders' Perception of ICZM and Coastal Erosion in the Mediterranean

Author: Valentina Marin, Simone Martino, Helen Rey-Valette, A. Sapounidis, Daria Povh, Valentino Giuliani, Mauro Fabiano, C. G. Malvárez, Silva Marzetti, Sebastian Roussel, Paola Salmona, E. T. Koutrakis, Chiara Paoli, Emmanuel Roccatagliata, Koutrakis E. T., Sapounidis A., Marzetti S., Giuliani V., Martino S., Fabiano M., Marin V., Paoli C., Roccatagliata E., Salmona P., Rey-Valette H., Roussel S., and Povh D. and Malvárez C. G.
Subjects: Mediterranean climate, INTEGRATED COASTAL ZONE MANAGEMENT (ICZM), BEACH EROSION, business.industry, media_common.quotation_subject, Environmental resource management, CONTINGENT VALUATION METHOD (CVM), COST BENEFIT ANALYSIS, Coastal erosion, Geography, Perception, Environmental Chemistry, Mediterranean area, Integrated coastal zone management, business, SUSTAINABLE TOURISM, Sustainable tourism, General Environmental Science, media_common
Abstract: Along the European Mediterranean coasts, different approaches to coastal management and defence and various degrees of development and implementation of national ICZM strategies can be found. As part of the Regional Framework Operation BeachMed-e (2006-2008), a research project was carried out in order to analyze the different situations and to contribute to the further development of a common approach. This paper presents and discusses the results of the surveys conducted in five pilot sites along the European Mediterranean coastal zone (Greece, Italy and France) in order to evaluate beach visitors’ perception of ICZM, coastal erosion and coastal defence systems, and beach visitors’ Willingness To Pay (WTP) for beach defence. The survey of the preferences and opinions of beach visitors could yield important information for coastal and beach managers. Surprisingly, the level of awareness about generic Coastal Zone Management was found to be rather low in all regions except Riccione Southern beach, Emilia Romagna Region. In the Languedoc-Roussillon Region, this is justified by the fact that most of the respondents were not local people or beach visitors (other than recreational short term visitors). As regards coastal erosion it appears significant that, despite the lack of awareness demonstrated overall by stakeholders in the Region of East Macedonia and Thrace, visitors respond very positively to definitions and show awareness of the erosion process in their coastal system. In conclusion, in order to raise public awareness about ICZM, erosion and coastal defence systems, it is suggested that education, training and public awareness should be promoted as well as identification of local needs for the implementation of specific demand-driven studies.
Published: 2010

44. Preclinical cardiovascular abnormalities in patients in early stages of renal disease without nephrotic syndrome

Author: Stefania Martino, Paola Migliaresi, M. Balletta, Salvatore Pezzullo, Vittorio Palmieri, Pasquale Esposito, Esposito, P, Palmieri, V, Migliaresi, P, Pezzullo, S, Martino, S, and Balletta, MARIO MARIA
Subjects: medicine.medical_specialty, Pathology, Physiology, business.industry, Disease, urologic and male genital diseases, medicine.disease, Internal medicine, Internal Medicine, medicine, In patient, Cardiology and Cardiovascular Medicine, business, Nephrotic syndrome
Abstract: Cardiovascular morbidity and mortality are elevated in patients with chronic kidney disease (CKD).1 Most of the studies evaluating the correlations between chronic renal dysfunction and cardiovascular disease (CVD) have been performed in patients with end-stage renal failure, whereas few data are available regarding cardiovascular abnormalities in patients with early-stage renal disease.
Published: 2009

45. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children

Author: Maria Pia Sormani, Laura Obici, Nicoletta Solari, Isabelle Touitou, Isabelle Koné-Paut, Andrea D'Osualdo, Maurizia Baldi, Luciana Breda, Grazia Bossi, MA Pelagatti, Alberto Tommasini, Silvia Federici, Antonella Meini, A. Govers, Massimiliano Cecconi, Isabella Ceccherini, Silvana Martino, Francesco Zulian, Marco Gattorno, Francesco Caroli, P Woo, J. Frenkel, Alberto Martini, Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Gattorno, M., Sormani, M. P., D'Osualdo, A., Pelagatti, M. A., Caroli, F., Federici, S., Cecconi, M., Solari, N., Meini, A., Zulian, F., Obici, L., Breda, L., Martino, S., Tommasini, A., Bossi, G., Govers, A., Touitou, I., Woo, P., Frenkel, J., Koné Paut, I., Baldi, M., Ceccherini, I., and Martini, A.
Subjects: Abdominal pain, Multivariate analysis, Type I, Familial Mediterranean fever, Severity of Illness Index, Type I, Sensitivity and Specificity, Severity of Illness Index, Stomatiti, Cohort Studies, 0302 clinical medicine, Receptors, Immunology and Allergy, Medicine, Pharmacology (medical), 030212 general & internal medicine, Family history, Child, ComputingMilieux_MISCELLANEOUS, medicine.diagnostic_test, Adolescent, Adult, Age Factors, Aged, Algorithms, Child, Child, Preschool, Cohort Studies, Cytoskeletal Proteins, Diarrhea, Familial Mediterranean Fever, Humans, Infant, Middle Aged, Pain, Phosphotransferases (Alcohol Group Acceptor), Receptors, Tumor Necrosis Factor, Type I, Sensitivity and Specificity, Severity of Illness Index, Stomatitis, Aphthous, Age Factors, Middle Aged, MEFV, 3. Good health, Preschool, Cohort Studies, Cytoskeletal Proteins, Diarrhea, Familial Mediterranean Fever, Humans, Infant, Middle Aged, Pain, Phosphotransferases (Alcohol Group Acceptor), Receptor, Familial Mediterranean Fever, Phosphotransferases (Alcohol Group Acceptor), TNF receptor associated periodic syndrome, Receptors, Tumor Necrosis Factor, Type I, Child, Preschool, Stomatitis, Aphthous, medicine.symptom, Algorithms, Adult, Diarrhea, medicine.medical_specialty, Adolescent, Immunology, Pain, Aged, Cytoskeletal Proteins, Humans, Infant, Pyrin, Sensitivity and Specificity, 03 medical and health sciences, Rheumatology, Internal medicine, Preschool, Genetic testing, 030203 arthritis & rheumatology, Stomatitis, business.industry, Odds ratio, medicine.disease, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, business
Abstract: OBJECTIVE: To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes. METHODS: A total of 228 consecutive patients with a clinical history of periodic fever were screened for mutations in the MVK, TNFRSF1A, and MEFV genes, and detailed clinical information was collected. A diagnostic score was formulated based on univariate and multivariate analyses in genetically positive and negative patients (training set). The diagnostic score was validated in an independent set of 77 patients (validation set). RESULTS: Young age at onset (odds ratio [OR] 0.94, P = 0.003), positive family history of periodic fever (OR 4.1, P = 0.039), thoracic pain (OR 4.6, P = 0.05), abdominal pain (OR 33.1, P < 0.001), diarrhea (OR 3.3, P = 0.028), and oral aphthosis (OR 0.2, P = 0.007) were found to be independently correlated with a positive genetic test result. These variables were combined in a linear score whose ability to predict a positive result on genetic testing was validated in an independent data set. In this latter set, the diagnostic score revealed high sensitivity (82%) and specificity (72%) for discriminating patients who were genetically positive from those who were negative. In patients with a high probability of having a positive result on genetic testing, a regression tree analysis provided the most reasonable order in which the genes should be screened. CONCLUSION: The proposed approach in patients with periodic fever will increase the probability of obtaining positive results on genetic testing, with good specificity and sensitivity. Our results further help to optimize the molecular analysis by suggesting the order in which the genes should be screened.
Published: 2008
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46. Cross-company vs. single-company Web effort models using the Tukutuku database: an extended study

Author: Emilia Mendes, Sergio Di Martino, Carmine Gravino, Filomena Ferrucci, Mendes, E., Di Martino, S., Ferrucci, F., and Gravino, C.
Subjects: cross-company vs. single company, Database, Computer science, business.industry, Software development effort estimation, software development effort estimation, empirical analysis, computer.software_genre, Software metric, Data set, Hardware and Architecture, Web application, Cross company, business, computer, Software, Information Systems
Abstract: In 2004 [Kitchenham, B.A., Mendes, E., 2004a. Software productivity measurement using multiple size measures. IEEE Transactions on Software Engineering 30 (12), 1023-1035, Kitchenham, B.A., Mendes, E., 2004b. A comparison of cross-company and single-company effort estimation models for web applications. In: Proceedings Evaluation and Assessment in Software Engineering (EASE' 04), pp. 47-55] (S1) investigated, using data on 63 Web projects, to what extent a cross-company cost model could be successfully employed to estimate development effort for single-company Web projects. Their effort models were built using Forward Stepwise Regression (SWR) and they found that cross-company predictions were significantly worse than single-company predictions. This study S1 was extended by Mendes and Kitchenham [Mendes, E., Kitchenham, B.A., 2004. Further comparison of cross-company and within company effort estimation models for web applications. In: Proceedings International Software Metrics Symposium (METRICS'04), Chicago, Illinois, September 11-17th, 2004. IEEE Computer Society, pp. 348-357] (S2), who used SWR and Case-based reasoning (CBR), and data on 67 Web projects from the Tukutuku database. They built two cross-company and one single-company models and found that both SWR cross-company models and CBR cross-company data provided predictions significantly worse than single-company predictions. Since 2004 another 83 projects were volunteered to the Tukutuku database, and recently used by Mendes et al. [Mendes, E., Di Martino, S., Ferrucci, F., Gravino, C., in press. Effort estimation: How valuable is it for a web company to use a cross-company data set, compared to using its own single-company data set? In: Proceedings of International World Wide Web Conference (WWW'07), Banff, Canada, 8-12 May] (S3), who partially replicated Mendes and Kitchenham's study (S2), using SWR and CBR. They corroborated some of S2's findings (SWR cross-company model and the CBR cross-company data provided predictions significantly worse than single-company predictions) however they replicated only part of S2. The objective of this paper (S4) is therefore to extend Mendes et al.'s work and fully replicate S2. We used the same dataset used in S3, and our results corroborated most of those obtained in S2. The main difference between S2 and our study was that one of our SWR cross-company models showed significantly similar predictions to the single-company model, which contradicts the findings from S2. © 2007 Elsevier Inc. All rights reserved.
Published: 2008

47. Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicelter study

Author: Martire, B, Rondelli, R, Soresina, A, Pignata, C, Broccoletti, T, Finocchi, A, Rossi, P, Gattorno, M, Rabusin, M, Azzari, C, Dellepiane, Rm, Pietrogrande, Mc, Trizzino, A, Di Bartolomeo, P, Martino, Silvana, Carpino, L, Cossu, F, Locatelli, F, Maccario, R, Pierani, P, Putti, Mc, Stabile, A, Notarangelo, Ld, Ugazio, Ag, Plebani, A, De Mattia, D, Ipinet, Martire, B, Rondelli, R, Soresina, A, Pignata, Claudio, Broccoletti, Teresa, Finocchi, A, Rossi, P, Gattorno, M, Rabusin, M, Azzari, C, Dellepiane, R. M., Pietrogrande, M. C., Trizzino, A, DI BARTOLOMEO, P, Martino, S, Carpino, L, Cossu, F, Locatelli, F, Maccario, R, Pievani, P, Putti, M. C., Stabile, A, Notarangelo, L. D., Ugazio, A. G., Plebani, A, and DE MATTIA, D.
Subjects: Male, absence of side effects, Granulomatous Disease, Chronic, cause of death, Chronic granulomatous disease, Anti-Infective Agents, amphotericin B, cotrimoxazole, fluconazole, gamma interferon, itraconazole, voriconazole, adolescent, adult, article, brain abscess, child, chronic granulomatous disease, clinical feature, clinical trial, cohort analysis, conjunctivitis, controlled clinical trial, controlled study, dermatitis, disease course, drug efficacy, drug withdrawal, enteritis, enterocolitis, fatigue, female, fever, follow up, function test, granulocyte function, headache, human, incidence, liver abscess, long term care, lung abscess, lymphadenitis, male, multicenter study, myalgia, osteomyelitis, otitis, pneumonia, priority journal, prophylaxis, prospective study, rash, septicemia, single drug dose, sinusitis, skin abscess, survival rate, treatment duration, Antifungal Agents, Antiviral Agents, Bacterial Infections, Child, Child, Preschool, Cohort Studies, Female, Follow-Up Studies, Humans, Infant, Interferon Type II, Italy, Itraconazole, Kaplan-Meiers Estimate, Retrospective Studies, Treatment Outcome, Trimethoprim-Sulfamethoxazole Combination, Immunopathology, Chronic, Interferon gamma (IFNγ), Cohort, clinica features, Cohort study, medicine.medical_specialty, Cotrimoxazole (CTX), Immunology, Interferon-gamma, Settore MED/38 - Pediatria Generale e Specialistica, Follow up, Itraconazole (ITRA), medicine.disease, Kaplan-Meier Estimate, Skin infection, Immunology and Allergy, Mortality rate, Granulomatous Disease, medicine.drug, Chronic Granulomatous Disease (CGD), Infections, Internal medicine, Trimethoprim, Sulfamethoxazole Drug Combination, medicine, Preschool, business.industry, Retrospective cohort study, Surgery, business
Abstract: A retrospective clinical and immunological survey was conducted in 60 patients with Chronic Granulomatous Disease. A prospective controlled non-randomized study of the efficacy of long-term IFNgamma treatment was carried out. The mean age at the time of diagnosis was 4.4 years; mean duration of follow-up was 10.4 years. Lung and skin infections were the most frequent manifestations both prior to diagnosis and during follow-up. Aspergillus species was the first cause of infection and of death in our cohort. The mortality rate was 13%. Long term prophylaxis with IFNgamma did not significantly change the rate of total infection per patient-year compared to controls (p=0.07). Our data provide clear evidence that protocols of continuing intensive surveillance and monitoring of compliance with anti-infective regimens may significantly improve the quality of life and long-term survival in patients with CGD. No evidence justifying long-term prophylaxis with IFNgamma was obtained.
Published: 2008

48. Troponin I and right ventricular dysfunction for risk assessment in patients with nonmassive pulmonary embolism in the Emergency Department in combination with clinically based risk score

Author: Alfredo Postiglione, Vittorio Russo, Stefania Martino, Domenico Rendina, Matteo Nicola Dario Di Minno, Giovanni Gallotta, Aldo Celentano, Silvana De Bonis, Vittorio Palmieri, Palmieri, V., Gallotta, Giovanni, Rendina, D., DE BONIS, S, Postiglione, Alfredo, Martino, S., DI MINNO, Matteo, and Celentano, A.
Subjects: Adult, Male, medicine.medical_specialty, thrombolysis, medicine.medical_treatment, Ventricular Dysfunction, Right, Risk Assessment, Internal medicine, Troponin I, Internal Medicine, medicine, Prevalence, Health Status Indicators, Humans, Aged, Framingham Risk Score, Lung, biology, business.industry, troponin, Hemodynamics, Thrombolysis, Emergency department, Middle Aged, medicine.disease, Prognosis, Troponin, Pulmonary embolism, medicine.anatomical_structure, Echocardiography, Emergency Medicine, Cardiology, biology.protein, Female, Risk assessment, business, Pulmonary Embolism
Abstract: To determine whether troponin I (cTnI) and right ventricular (RV) dysfunction predict adverse in-hospital outcomes in patients admitted to the Emergency Department (ED) with definite nonmassive pulmonary embolism (PE) independent of and in addition to a recently validated clinical prognostic risk score. From a pool of 168 patients with suspected PE, 89 had nonmassive PE confirmed by spiral lung angio-computed tomography. By the clinical prognostic score, in our study sample, 14% had very low risk; 17% had low risk, 20% had intermediate risk, whereas high risk and very high risk were identified in 29 and 20%, respectively. Prevalence of elevated cTnI (>0.1 μg/L, 57%) at admission was comparable among patients grouped by clinical prognostic score (P = NS); echocardiographic RV dysfunction (54%) was more prevalent with intermediate or high clinical risk score (P
Published: 2007

49. EFFORT ESTIMATION: HOW VALUABLE IS IT FOR A WEB COMPANY TO USE A CROSS-COMPANY DATA SET, COMPARED TO USING ITS OWN SINGLE-COMPANY DATA SET?

Author: Emilia Mendes, Carmine Gravino, Sergio Di Martino, Filomena Ferrucci, Mendes, E., Di Martino, S., Ferrucci, F., and Gravino, C.
Subjects: Estimation, Putnam model, Cost estimation, Effort estimation, Cost estimate, business.industry, Computer science, Single-company effort model, Cross-company effort model, Stepwise regression, computer.software_genre, Industrial engineering, Data set, Case-based reasoning, Web application, Data mining, Cross company, business, computer, Web projects
Abstract: Previous studies comparing the prediction accuracy of effort models built using Web cross- and single-company data sets have been inconclusive, and as such replicated studies are necessary to determine under what circumstances a company can place reliance on a cross-company effort model. This paper therefore replicates a previous study by investigating how successful a cross-company effort model is: i) to estimate effort for Web projects that belong to a single company and were not used to build the cross-company model; ii) compared to a single-company effort model. Our single-company data set had data on 15 Web projects from a single company and our cross-company data set had data on 68 Web projects from 25 different companies. The effort estimates used in our analysis were obtained by means of two effort estimation techniques, namely forward stepwise regression and case-based reasoning. Our results were similar to those from the replicated study, showing that predictions based on the single-company model were significantly more accurate than those based on the cross-company model.
Published: 2007

50. Towards a framework for mining and analyzing spatio-temporal datasets

Author: Filomena Ferrucci, Tahar Kechadi, S. Di Martino, Michela Bertolotto, Bertolotto, M., Di Martino, S., Ferrucci, F., and Kechadi, T.
Subjects: business.industry, Geography, Planning and Development, data mining, Library and Information Sciences, exploratory visualization, Data science, Natural (archaeology), Visualization, Geography, spatio-temporal data, Hurricane Isabel, business, Information Systems, Graphical user interface
Abstract: High-resolution spatio-temporal datasets are being collected every day to record the behaviour of several natural phenomena. However, data-mining techniques are needed to extract relevant patterns from very large repositories and reveal spatial and temporal patterns in the behaviour of these phenomena. To this aim, we propose a system for mining data with spatial and temporal characteristics, and for visualizing and interpreting the results. Within this system, we have developed two complementary 3D visualization environments, one based on Google Earth and one relying on a Java3D graphical user interface. In this paper, we illustrate the main features of the system we have developed, and report on the main results we have obtained by analysing the Hurricane Isabel dataset.
Published: 2007

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