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435 results on '"Bizzarri C"'

2. Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients

Author

Garelli, S., Dalla Costa, M., Sabbadin, C., Barollo, S., Rubin, B., Scarpa, R., Masiero, S., Fierabracci, A., Bizzarri, C., Crinò, A., Cappa, M., Valenzise, M., Meloni, A., De Bellis, A. M., Giordano, C., Presotto, F., Perniola, R., Capalbo, D., Salerno, M. C., Stigliano, A., Radetti, G., Camozzi, V., Greggio, N. A., Bogazzi, F., Chiodini, I., Pagotto, U., Black, S. K., Chen, S., Rees Smith, B., Furmaniak, J., Weber, G., Pigliaru, F., De Sanctis, L., Scaroni, C., and Betterle, C.

Published
2021
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4. Pelvic ultrasound and pubertal attainment in girls with sexual precocity: the pivotal role of uterine volume in predicting the timing of menarche

Author

Cattoni, A, Russo, G, Capitoli, G, Rodari, G, Nicolosi, M, Molinari, S, Tondelli, D, Pelliccia, C, Radaelli, S, Arosio, A, Fontana, K, Tattesi, G, Passoni, P, Boneschi, A, Giavoli, C, Meroni, S, Stancampiano, M, Garuti, E, Biondi, A, Balduzzi, A, Bizzarri, C, Cattoni, Alessandro, Russo, Gianni, Capitoli, Giulia, Rodari, Giulia, Nicolosi, Maria Laura, Molinari, Silvia, Tondelli, Daniele, Pelliccia, Ciretta, Radaelli, Silvia, Arosio, Andrea Mario Luciano, Fontana, Katia, Tattesi, Giulia, Passoni, Paolo, Boneschi, Annalisa, Giavoli, Claudia, Meroni, Silvia Laura Carla, Stancampiano, Marianna Rita, Garuti, Elda, Biondi, Andrea, Balduzzi, Adriana, Bizzarri, Carla, Cattoni, A, Russo, G, Capitoli, G, Rodari, G, Nicolosi, M, Molinari, S, Tondelli, D, Pelliccia, C, Radaelli, S, Arosio, A, Fontana, K, Tattesi, G, Passoni, P, Boneschi, A, Giavoli, C, Meroni, S, Stancampiano, M, Garuti, E, Biondi, A, Balduzzi, A, Bizzarri, C, Cattoni, Alessandro, Russo, Gianni, Capitoli, Giulia, Rodari, Giulia, Nicolosi, Maria Laura, Molinari, Silvia, Tondelli, Daniele, Pelliccia, Ciretta, Radaelli, Silvia, Arosio, Andrea Mario Luciano, Fontana, Katia, Tattesi, Giulia, Passoni, Paolo, Boneschi, Annalisa, Giavoli, Claudia, Meroni, Silvia Laura Carla, Stancampiano, Marianna Rita, Garuti, Elda, Biondi, Andrea, Balduzzi, Adriana, and Bizzarri, Carla

Abstract

Introduction: Among girls assessed for pubertal precocity, pelvic ultrasound (pUS) may represent a pivotal tool to predict the time expected to elapse between sonographic assessment and the onset of menarche (TUS-M). Accordingly, the present analysis is meant to define the statistical relationship between sonographic parameters and TUS-M, in order to identify the most reliable predictor of the timing of menarche. Methods: Retrospective, multicenter analysis. Girls assessed for sexual precocity and showing sonographic and clinical findings consistent with pubertal onset upon referral were considered eligible. Patients treated with GnRH analogues were excluded and only those who had subsequently achieved complete and spontaneous pubertal attainment and for whom the exact date of menarche was available were included. Overall, we enrolled 184 girls from five tertiary care Italian Centers. Results: The time elapsed (months) between baseline endocrine assessment and spontaneous achievement of menarche showed a negative statistically significant correlation (p<0.0001) with LH (r:-0.61), FSH (r:-0.59), estradiol (r:-0.52) and stimulated LH values (r:-0.58). Among pUS parameters, ovarian volume (r:-0.17 left, -0.30 right) and uterine body-to-cervix ratio (r:-0.18) poorly correlated with TUS-M, while uterine diameters (r:-0.61 longitudinal, -0.64 anteroposterior) and volume (r:-0.70) achieved a highly statistical significance (p<0.0001). Uterine volume (UV) showed a negative logarithmic relationship with TUS-M and represented the most reliable predictor of the timing of menarche in uni- and multivariable analyses (p <0.001). ROC analyses identified the UV thresholds that best predict the onset of menarche within 18, 12 and 6 months, respectively: 3.76, 6.02 and 8.80 ml. Conclusion: The logarithm of UV shows the best statistical performance in predicting the timing of menarche in girls assessed for pubertal precocity. Accordingly, we developed a user-friendly online a

Published
2024

10. Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities

Author

Baronio, F, Zucchini, S, Zulian, F, Salerno, M, Parini, R, Cattoni, A, Deodato, F, Gaeta, A, Bizzarri, C, Gasperini, S, Pession, A, Baronio, Federico, Zucchini, Stefano, Zulian, Francesco, Salerno, Mariacarolina, Parini, Rossella, Cattoni, Alessandro, Deodato, Federica, Gaeta, Alberto, Bizzarri, Carla, Gasperini, Serena, Pession, Andrea, Baronio, F, Zucchini, S, Zulian, F, Salerno, M, Parini, R, Cattoni, A, Deodato, F, Gaeta, A, Bizzarri, C, Gasperini, S, Pession, A, Baronio, Federico, Zucchini, Stefano, Zulian, Francesco, Salerno, Mariacarolina, Parini, Rossella, Cattoni, Alessandro, Deodato, Federica, Gaeta, Alberto, Bizzarri, Carla, Gasperini, Serena, and Pession, Andrea

Abstract

Background and Objectives: Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to the rarity of the disease and the variability of clinical presentation. Short stature and impaired growth velocity are frequent findings in MPS Ia, but they rarely raise suspicion as paediatric endocrinologists are generally poorly trained to detect earlier and milder clinical signs of this condition. Materials and Methods: Following a consensus-based methodology, a multidisciplinary panel including paediatric endocrinologists, paediatricians with expertise in metabolic disorders, radiologists, and rheumatologists shared their experience on a possible clinical approach to the diagnosis of MPS Ia in children with short stature or stunted growth. Results: The result was the formation of an algorithm that illustrates how to raise the suspicion of MPS Ia in a patient older than 5 years with short stature and suggestive clinical signs. Conclusion: The proposed algorithm may represent a useful tool to improve the awareness of paediatric endocrinologists and reduce the diagnostic delay for patients with MPS Ia.

Published
2022

17. Bassa statura da deficit di gene SHOX: vecchi e nuovi concetti

Author

Pellegrin, Mc, Andrade, S, Faleschini, E, Barbi, E, Bizzarri, C, Tornese, G., Pellegrin, Mc, Andrade, S, Faleschini, E, Barbi, E, Bizzarri, C, and Tornese, G.

Subjects
short stature, familial, SHOX, SHOXD
Abstract

At the moment alterations of SHOX gene, located in the pseudoautosomal region of sex chromosomes, are considered the most frequent genetic defects associated with short stature. Pathogenic mutations leading to SHOX deficiency involve not just exons, but also enhancer regions (affected in almost half of the cases) and follow an autosomal dominant inheritance pattern. Independently of the mutation, clinical severity varies between genders and ranges from idiopathic short stature to severe mesomelic skeletal dysplasia. Growth hormone is a valid treatment option to promote growth in this condition. In this article, current knowledge on manifestations, diagnosis and treatment of SHOX deficiency in children is summarised by a clinical case.

Published
2019

20. Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene

Author

Tonini, G., Bizzarri, C., Bonfanti, R., Vanelli, M., Cerutti, F., Faleschini, E., Meschi, F., Prisco, F., Ciacco, E., Cappa, M., Torelli, C., Cauvin, V., Tumini, S., Iafusco, D., Barbetti, F., and Early-Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology

Published
2006
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27. Effect of hydrolyzed infant formula vs conventional formula on risk of type 1 diabetes the TRIGR randomized clinical trial

Author

Knip M., Akerblom H. K., Altaji E., Becker D., Bruining J., Castano L., Danne T., De Beaufort C., Dosch H. -M., Dupre J., Fraser W. D., Howard N., Ilonen J., Konrad D., Kordonouri O., Krischer J. P., Lawson M. L., Ludvigsson J., Madacsy L., Mahon J. L., Ormisson A., Palmer J. P., Pozzilli P., Savilahti E., Serrano-Rios M., Songini M., Taback S., Vaarala O., White N. H., Virtanen S. M., Wasikowa R., Mandrup-Poulsen T., Arjas E., Lernmark A., Laara E., Schmidt B., Hyytinen M., Koski K., Koski M., Merentie K., Pajakkala E., Reunanen A., Salonen M., Terhonen T., Virkkunen S., Cuthbertson D., Gainer B., Hadley D., Malloy J., Nallamshetty L., Shanker L., Bradley B., Lough G., Fraser W., Sermer M., Taback S. P., Franciscus M., Nucci A., Palmer J., Alahuhta K., Barlund S., Korhonen T., Kovanen L., Lehtonen E., Niinisto S., Pekkala M., Sorkio S., Toivanen L., Vahatalo L., Uusitalo U., Ohman T., Bongiorno R., Catteau J., Fraser G., Lloyd M., Crock P., Giles M., Siech K., See D. W., Brown C., Craig M., Johnston A., Bere L. J., Clarson C. L., Jenner M., McManus R., Renato N., Lovell M., Higo D., Kent N., Kwan J., Marshall C., Metzger D., Chanoine J. -P., Stewart L., Thompson D., Edwards A., Lange I., Mercer J., Pacaud D., Josephine H., Schwarz W., Stephure D. K., Boer J., Chatur T., Chick C., Couch B., Demianczuk N., Girgis R., Marks S., Ryan E., Thompson M., Dean H. J., Grant L., Hamelin K., LaForte J., Murphy L., Catte D., Schneider C., Sellers E. A. C., Woo V., Boland A., Clark H. D., Cooper T., Gruslin A., Karovitch A., Keely E., Malcolm J. C., Sauro V., Tawagi G. F., Andrighetti S., Arnold G., Barrett J., Blumer I., Daneman D., Donat D., Ehrlich R., Feig D., Gottesman I., Gysler M., Karkanis S., Kenshole A., Knight B., Lackie E., Lewis V., Martin M. J., Maxwell C., Oliver G., Panchum P., Shilletto N., Simone A., Skidmore M., Turrini T., Wong S., Allen C., Belanger L., Bouchard I., Ferland S., Frenette L., Garrido-Russo M., Leblanc M., Imbeault J., Morin V., Olivier G., Weisnagell J., Costain G., Dornan J., Heath K., MacSween M. -C., McGibbon A., Ramsay C., Sanderson F., Sanderson S., Benabdesselam L., Gonthier M., Huot C., Thibeault M., Laforte D., Legault L., Perron P., Armson A., Canning P., Cummings E. A., Ivanko V., McLeod L., Mokashi A., Scott K., Bridger T., Crane J., Crummell C., Curtis J. C., Dawson C., Joyce C., Newhook L. A., Newman S., Druken E., Begum-Hasan J., Breen A., Houlden R., Woods M., Carrson G., Kelly S., Martel M. J., Penner M., Sankaran K., Hardy-Brown K., King N., White R. A., Park M., Popkin J., Robson L., Coles K., Al Taji E., Cerna M., Cerny M., Francova H., Hainerova I., Kothankova H., Koukalova R., Krakorova V., Mendlova P., Sitova R., Stechova K., Vavrinec J., Vosahlo J., Zlatohlavkova B., Brazdova L., Faksova P., Gregorova D., Kantor L., Malkova K., Venhacova J., Venhacova P., Cipra A., Skvor J., Budejovice C., Tomsikova Z., Botkova-Krauseova H., Mockova A., Paterova P., Gogelova P., Kandrnalova J., Einberg U., Jakovlev U., Posiadlo S., Rannaste E., Raukas R., Riikjarv M. -A., Valla K., Astover V., Kirss A., Retpap J., Taht E., Tillmann V., Vahtra S., Heikkila M., Hirvasniemi M., Luopajarvi K., Johansson S., Kleemola P., Laukkanen E., Parkkola A., Pigg H. -M., Puttonen H., Renlund M., Salonen K., Suomalainen H., Tenkula T., Teramo K., Jarvenpaa A. -L., Hamalainen A. -M., Jussila R., Kiiveri S., Haavisto H., Holopainen S., Kupiainen H., Leeve T., Lumme K., Nironen T., Tenhola S., Tiilikainen T., Keinonen H., Lautala P., Salonen P., Vesanto M., Aspholm A. S., Asunta P., Ikavalko H., Jason E., Jaminki S., Kekki P., Koskinen M., Lehtimaki S., Lahde J., Makela M., Peltoniemi S., Poutiainen L., Ranta K., Salonsaari T., Sarviharju-Tujula S. -L., Selvenius J., Siljander H., Haanpaa P. -L., Holm C., Juutilainen A., Jarvelainen V., Kangaskolkka-Keskilohko A. -M., Laino E., Marjamaki L., Suominen E., Ylitalo S., Hokkanen M., Lounamaa R., Matikainen M., Nuuja A., Paalanen I., Puupponen A. R., Salo-Edwards H., Alanne S., Kultti T., Linjama H., Muhonen K., Vaaraniemi M., Talvitie T., Backman M., Hanhijarvi R., Koivula P., Lindstrom K., Martikainen A., Nurmi P., Bjork A., Huopio H., Komulainen J., Lehtomaki S., Muikku E., Pesola J., Sankilampi U., Arkkola T., Hekkala A., Jurvakainen S., Koivikko M. -L., Kahonen M., Leinonen E., Mykkanen T., Pohjola H., Riikonen K., Niittyvuopio A., Stenius A., Tapanainen P., Veijola R., Alar A., Jovio S., Korpela P., Makinen E., Hietanen L., Kivisto J., Kaar M. -L., Lehtimaki P., Mustila T., Popov E., Saatela S., Taittonen L., Ahtiainen K., Laaksonen N., Luoto M., Viitala J., Virransalo R., Nykanen P., Paajanen S., Parkkinen S., Pyrhonen H., Sarkka T., Aschemeier B., Bektas S., Biester T., Datz N., Deiss D., Fath M., Lupke K., Muller B., Nestoris C., Rothes S., Sadeghian E., Semler K., Arato A., Krikovszky D., Nobilis A., Szenasi J., Benevento D., Anguissola G. B., Biagioni M., Bizzarri C., Cherubini V., Ferrito L., Giordano C., Giorgetti C., Khazrai Y. M., Kyanvash S., Maddaloni E., Napoli A., Piergiovanni F., Pitocco D., Suraci T., Tabacco G., Valente L., Visalli N., Carboni M. B., Cavallo R., Cau V., Isola C., Ledda A., Loddo M., Mannu C., Pettinau M., Pisano S., Porceddu M., Putzu C., Rita A., Peters D., Schierloh U., Bisschoff M., Blonk L., Lappenschaar T., Manai B., Seesink M., Sperling-Conrad M., Verhagen M., Zoethout J. A., Basiak A., Chalas M., Chesiak M., Gramza A., Iwankiewicz J., Sieradzan E., Wikiera B., Ciechanowska M., Dziatkowiak H., Futona B., Gorska A., Glowacka-Wony M., Kaim I., Klich B., Starzyk J., Wolanin M., Tokarska L., Chucherco D., Deja G., Firek-Pedras M., Jarosz-Chobot P., Kalina M., Kutrowska-Adamusiak K., Minkina-Pedras M., Muchaka-Bianga M., Bodalski J., Mlynarski W., Szadkowska A., Cieslak A., Cypryk K., Dziatosz K., Jastzebowska J., Krysiak A., Szymanska U., Wilcznski J., Zawodniak-Szalapska M., Aguay A., Bilbao J. R., Chueca M., Cortazar A., Echarte G., Frutos T. G., Jimenez P., Martul P., Moreno A., Oyarzabal M., Rica I., Salgado Y., Martinez-Larrad M. T., Hawkins F. G., Hernandez R., Herranz L., Pallardo L. F., Deibarra L. S., Fernandez B. H., Luis J. L., Ortiz-Quintana L., Recarte P. P., Arnau D. R., Aronsson L., Boden S., Fredriksson J., Isacsson E., Johansson I., Karlsson E., Lock C., Sandstrom A. -M., Konefal M. S., Andreasson C., Dahlstrom U., Hanas R., Lundqvist K., Windell L., Jansson I., Karlsson A. -K., Lindbladh B., Odenman I., Pettersson C., Sundberg F., Sundqvist M., Aronsson S., Bellman I., Bengtsson A. -B., Lyden G. -B., Nilsson N. -O., Soderblom M., Unt C., Augustsson M., Bengtsson M., Fors H., Helmrich A., Johansson T. O., Andersson A. -C., Boiard-Stomlid A., Hellgren G., Kallsholm H., Lindqvist J., Nilsson M., Nordwall M., Stromstedt C., Ahsberg C., Lindh A., Lindhe C., Samuelsson C., Wiik A., Edenwall H., Ljumgcrantz M., Persson I. -B., Strigard E., Svensson B. -L., Aman J., Breivik G. -E., Detlofsson I. -L., Kroon M., Sarnblad S., Johansson C., Ilvered R., Lundberg A., Akesson K., Beccarelli A., Gadient M., Rappold-Amrein C., Schoenle E., Daftary A., Damagro-Elias M. E., Gilmour C., Klein M. B., Lain C., Salerno D., Smith M. E., Vats K., Pfaff D. J., Malone P., Mansfield P., Munns M., Nickel K., Pompilio K., Siemion W., Taculad R., Van Horn K., Zdanadewic M., Chambliss C., Jones J., Sadler M., Tanner-Blasiar M., Bell C., Camper N., Devaskar S., Devaskar U., Horowitz H., Rogers L., Shannahan R., Silk K., Bermudez Z., Colon R., Frazer T., Martinez-Nieves B., Torres J., Vega J., Chan M., Cook S., Goland R., Greenberg E., Jules N., Montes J., Nelson M., Parra-Valencia Z., Schachner H., Softness B., Kiviniemi M., Suomenin R., Alexander A., Hyrckowian E., Nichol L., Trucco M., Karjalainen E., Louhio T., Sarnesto A., Valtonen E., Davydova B., Helander S., Hamalainen J., Harkonen T., Joutsjoki L., Kararic M., Latva-Koivisto M., Lonn E., Nurmi T., Ollila I., Rinkinen J., Ronkainen M., Tukiainen H., Cederlof A., Kiikeri M., Tsupari S., Cheng R., Bryant K., Chan Y., Maezawa Y., Paltser G., Rasavi R., Tsui H., Winer S., Wu P., Yantha J., Pediatrics, Knip M., Akerblom H.K., Altaji E., Becker D., Bruining J., Castano L., Danne T., De Beaufort C., Dosch H.-M., Dupre J., Fraser W.D., Howard N., Ilonen J., Konrad D., Kordonouri O., Krischer J.P., Lawson M.L., Ludvigsson J., Madacsy L., Mahon J.L., Ormisson A., Palmer J.P., Pozzilli P., Savilahti E., Serrano-Rios M., Songini M., Taback S., Vaarala O., White N.H., Virtanen S.M., Wasikowa R., Mandrup-Poulsen T., Arjas E., Lernmark A., Laara E., Schmidt B., Hyytinen M., Koski K., Koski M., Merentie K., Pajakkala E., Reunanen A., Salonen M., Terhonen T., Virkkunen S., Cuthbertson D., Gainer B., Hadley D., Malloy J., Nallamshetty L., Shanker L., Bradley B., Lough G., Fraser W., Sermer M., Taback S.P., Franciscus M., Nucci A., Palmer J., Alahuhta K., Barlund S., Korhonen T., Kovanen L., Lehtonen E., Niinisto S., Pekkala M., Sorkio S., Toivanen L., Vahatalo L., Uusitalo U., Ohman T., Bongiorno R., Catteau J., Fraser G., Lloyd M., Crock P., Giles M., Siech K., See D.W., Brown C., Craig M., Johnston A., Bere L.J., Clarson C.L., Jenner M., McManus R., Renato N., Lovell M., Higo D., Kent N., Kwan J., Marshall C., Metzger D., Chanoine J.-P., Stewart L., Thompson D., Edwards A., Lange I., Mercer J., Pacaud D., Josephine H., Schwarz W., Stephure D.K., Boer J., Chatur T., Chick C., Couch B., Demianczuk N., Girgis R., Marks S., Ryan E., Thompson M., Dean H.J., Grant L., Hamelin K., LaForte J., Murphy L., Catte D., Schneider C., Sellers E.A.C., Woo V., Boland A., Clark H.D., Cooper T., Gruslin A., Karovitch A., Keely E., Malcolm J.C., Sauro V., Tawagi G.F., Andrighetti S., Arnold G., Barrett J., Blumer I., Daneman D., Donat D., Ehrlich R., Feig D., Gottesman I., Gysler M., Karkanis S., Kenshole A., Knight B., Lackie E., Lewis V., Martin M.J., Maxwell C., Oliver G., Panchum P., Shilletto N., Simone A., Skidmore M., Turrini T., Wong S., Allen C., Belanger L., Bouchard I., Ferland S., Frenette L., Garrido-Russo M., Leblanc M., Imbeault J., Morin V., Olivier G., Weisnagell J., Costain G., Dornan J., Heath K., MacSween M.-C., McGibbon A., Ramsay C., Sanderson F., Sanderson S., Benabdesselam L., Gonthier M., Huot C., Thibeault M., Laforte D., Legault L., Perron P., Armson A., Canning P., Cummings E.A., Ivanko V., McLeod L., Mokashi A., Scott K., Bridger T., Crane J., Crummell C., Curtis J.C., Dawson C., Joyce C., Newhook L.A., Newman S., Druken E., Begum-Hasan J., Breen A., Houlden R., Woods M., Carrson G., Kelly S., Martel M.J., Penner M., Sankaran K., Hardy-Brown K., King N., White R.A., Park M., Popkin J., Robson L., Coles K., Al Taji E., Cerna M., Cerny M., Francova H., Hainerova I., Kothankova H., Koukalova R., Krakorova V., Mendlova P., Sitova R., Stechova K., Vavrinec J., Vosahlo J., Zlatohlavkova B., Brazdova L., Faksova P., Gregorova D., Kantor L., Malkova K., Venhacova J., Venhacova P., Cipra A., Skvor J., Budejovice C., Tomsikova Z., Botkova-Krauseova H., Mockova A., Paterova P., Gogelova P., Kandrnalova J., Einberg U., Jakovlev U., Posiadlo S., Rannaste E., Raukas R., Riikjarv M.-A., Valla K., Astover V., Kirss A., Retpap J., Taht E., Tillmann V., Vahtra S., Heikkila M., Hirvasniemi M., Luopajarvi K., Johansson S., Kleemola P., Laukkanen E., Parkkola A., Pigg H.-M., Puttonen H., Renlund M., Salonen K., Suomalainen H., Tenkula T., Teramo K., Jarvenpaa A.-L., Hamalainen A.-M., Jussila R., Kiiveri S., Haavisto H., Holopainen S., Kupiainen H., Leeve T., Lumme K., Nironen T., Tenhola S., Tiilikainen T., Keinonen H., Lautala P., Salonen P., Vesanto M., Aspholm A.S., Asunta P., Ikavalko H., Jason E., Jaminki S., Kekki P., Koskinen M., Lehtimaki S., Lahde J., Makela M., Peltoniemi S., Poutiainen L., Ranta K., Salonsaari T., Sarviharju-Tujula S.-L., Selvenius J., Siljander H., Haanpaa P.-L., Holm C., Juutilainen A., Jarvelainen V., Kangaskolkka-Keskilohko A.-M., Laino E., Marjamaki L., Suominen E., Ylitalo S., Hokkanen M., Lounamaa R., Matikainen M., Nuuja A., Paalanen I., Puupponen A.R., Salo-Edwards H., Alanne S., Kultti T., Linjama H., Muhonen K., Vaaraniemi M., Talvitie T., Backman M., Hanhijarvi R., Koivula P., Lindstrom K., Martikainen A., Nurmi P., Bjork A., Huopio H., Komulainen J., Lehtomaki S., Muikku E., Pesola J., Sankilampi U., Arkkola T., Hekkala A., Jurvakainen S., Koivikko M.-L., Kahonen M., Leinonen E., Mykkanen T., Pohjola H., Riikonen K., Niittyvuopio A., Stenius A., Tapanainen P., Veijola R., Alar A., Jovio S., Korpela P., Makinen E., Hietanen L., Kivisto J., Kaar M.-L., Lehtimaki P., Mustila T., Popov E., Saatela S., Taittonen L., Ahtiainen K., Laaksonen N., Luoto M., Viitala J., Virransalo R., Nykanen P., Paajanen S., Parkkinen S., Pyrhonen H., Sarkka T., Aschemeier B., Bektas S., Biester T., Datz N., Deiss D., Fath M., Lupke K., Muller B., Nestoris C., Rothes S., Sadeghian E., Semler K., Arato A., Krikovszky D., Nobilis A., Szenasi J., Benevento D., Anguissola G.B., Biagioni M., Bizzarri C., Cherubini V., Ferrito L., Giordano C., Giorgetti C., Khazrai Y.M., Kyanvash S., Maddaloni E., Napoli A., Piergiovanni F., Pitocco D., Suraci T., Tabacco G., Valente L., Visalli N., Carboni M.B., Cavallo R., Cau V., Isola C., Ledda A., Loddo M., Mannu C., Pettinau M., Pisano S., Porceddu M., Putzu C., Rita A., Peters D., Schierloh U., Bisschoff M., Blonk L., Lappenschaar T., Manai B., Seesink M., Sperling-Conrad M., Verhagen M., Zoethout J.A., Basiak A., Chalas M., Chesiak M., Gramza A., Iwankiewicz J., Sieradzan E., Wikiera B., Ciechanowska M., Dziatkowiak H., Futona B., Gorska A., Glowacka-Wony M., Kaim I., Klich B., Starzyk J., Wolanin M., Tokarska L., Chucherco D., Deja G., Firek-Pedras M., Jarosz-Chobot P., Kalina M., Kutrowska-Adamusiak K., Minkina-Pedras M., Muchaka-Bianga M., Bodalski J., Mlynarski W., Szadkowska A., Cieslak A., Cypryk K., Dziatosz K., Jastzebowska J., Krysiak A., Szymanska U., Wilcznski J., Zawodniak-Szalapska M., Aguay A., Bilbao J.R., Chueca M., Cortazar A., Echarte G., Frutos T.G., Jimenez P., Martul P., Moreno A., Oyarzabal M., Rica I., Salgado Y., Martinez-Larrad M.T., Hawkins F.G., Hernandez R., Herranz L., Pallardo L.F., Deibarra L.S., Fernandez B.H., Luis J.L., Ortiz-Quintana L., Recarte P.P., Arnau D.R., Aronsson L., Boden S., Fredriksson J., Isacsson E., Johansson I., Karlsson E., Lock C., Sandstrom A.-M., Konefal M.S., Andreasson C., Dahlstrom U., Hanas R., Lundqvist K., Windell L., Jansson I., Karlsson A.-K., Lindbladh B., Odenman I., Pettersson C., Sundberg F., Sundqvist M., Aronsson S., Bellman I., Bengtsson A.-B., Lyden G.-B., Nilsson N.-O., Soderblom M., Unt C., Augustsson M., Bengtsson M., Fors H., Helmrich A., Johansson T.O., Andersson A.-C., Boiard-Stomlid A., Hellgren G., Kallsholm H., Lindqvist J., Nilsson M., Nordwall M., Stromstedt C., Ahsberg C., Lindh A., Lindhe C., Samuelsson C., Wiik A., Edenwall H., Ljumgcrantz M., Persson I.-B., Strigard E., Svensson B.-L., Aman J., Breivik G.-E., Detlofsson I.-L., Kroon M., Sarnblad S., Johansson C., Ilvered R., Lundberg A., Akesson K., Beccarelli A., Gadient M., Rappold-Amrein C., Schoenle E., Daftary A., Damagro-Elias M.E., Gilmour C., Klein M.B., Lain C., Salerno D., Smith M.E., Vats K., Pfaff D.J., Malone P., Mansfield P., Munns M., Nickel K., Pompilio K., Siemion W., Taculad R., Van Horn K., Zdanadewic M., Chambliss C., Jones J., Sadler M., Tanner-Blasiar M., Bell C., Camper N., Devaskar S., Devaskar U., Horowitz H., Rogers L., Shannahan R., Silk K., Bermudez Z., Colon R., Frazer T., Martinez-Nieves B., Torres J., Vega J., Chan M., Cook S., Goland R., Greenberg E., Jules N., Montes J., Nelson M., Parra-Valencia Z., Schachner H., Softness B., Kiviniemi M., Suomenin R., Alexander A., Hyrckowian E., Nichol L., Trucco M., Karjalainen E., Louhio T., Sarnesto A., Valtonen E., Davydova B., Helander S., Hamalainen J., Harkonen T., Joutsjoki L., Kararic M., Latva-Koivisto M., Lonn E., Nurmi T., Ollila I., Rinkinen J., Ronkainen M., Tukiainen H., Cederlof A., Kiikeri M., Tsupari S., Cheng R., Bryant K., Chan Y., Maezawa Y., Paltser G., Rasavi R., Tsui H., Winer S., Wu P., Yantha J., University of Zurich, and Knip, Mikael

Subjects
Male, Risk, medicine.medical_specialty, Casein, Breastfeeding, 030209 endocrinology & metabolism, 610 Medicine & health, 2700 General Medicine, Endocrinology and Diabetes, Disease-Free Survival, law.invention, Follow-Up Studie, Nutrition Policy, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Double-Blind Method, SDG 3 - Good Health and Well-being, law, Internal medicine, Diabetes mellitus, medicine, Humans, Cumulative incidence, 030212 general & internal medicine, Child, Infant Nutritional Physiological Phenomena, Original Investigation, 2. Zero hunger, Type 1 diabetes, business.industry, Hazard ratio, Absolute risk reduction, Infant, Newborn, Caseins, General Medicine, ta3121, medicine.disease, Infant Formula, 3. Good health, Diabetes Mellitus, Type 1, Infant formula, 10036 Medical Clinic, Endokrinologi och diabetes, Female, business, Human, Follow-Up Studies
Abstract

IMPORTANCE Early exposure to complex dietary proteins may increase the risk of type 1 diabetes in children with genetic disease susceptibility. There are no intact proteins in extensively hydrolyzed formulas. OBJECTIVE To test the hypothesis that weaning to an extensively hydrolyzed formula decreases the cumulative incidence of type 1 diabetes in young children. DESIGN, SETTING, AND PARTICIPANTS An international double-blind randomized clinical trial of 2159 infants with human leukocyte antigen-conferred disease susceptibility and a first-degree relative with type 1 diabetes recruited from May 2002 to January 2007 in 78 study centers in 15 countries; 1081 were randomized to be weaned to the extensively hydrolyzed casein formula and 1078 to a conventional formula. The follow-up of the participants ended on February 28, 2017. INTERVENTIONS The participants received either a casein hydrolysate or a conventional adapted cows milk formula supplemented with 20% of the casein hydrolysate. The minimum duration of study formula exposure was 60 days by 6 to 8 months of age. MAIN OUTCOMES AND MEASURES Primary outcome was type 1 diabetes diagnosed according to World Health Organization criteria. Secondary outcomes included age at diabetes diagnosis and safety (adverse events). RESULTS Among 2159 newborn infants (1021 female [47.3%]) who were randomized, 1744 (80.8%) completed the trial. The participants were observed for a median of 11.5 years (quartile [Q] 1-Q3, 10.2-12.8). The absolute risk of type 1 diabetes was 8.4% among those randomized to the casein hydrolysate (n = 91) vs 7.6% among those randomized to the conventional formula (n = 82) (difference, 0.8%[95% CI, -1.6% to 3.2%]). The hazard ratio for type 1 diabetes adjusted for human leukocyte antigen risk group, duration of breastfeeding, duration of study formula consumption, sex, and region while treating study center as a random effect was 1.1 (95% CI, 0.8 to 1.5; P = .46). The median age at diagnosis of type 1 diabetes was similar in the 2 groups (6.0 years [Q1-Q3, 3.1-8.9] vs 5.8 years [Q1-Q3, 2.6-9.1]; difference, 0.2 years [95% CI, -0.9 to 1.2]). Upper respiratory infections were the most common adverse event reported (frequency, 0.48 events/year in the hydrolysate group and 0.50 events/year in the control group). CONCLUSIONS AND RELEVANCE Among infants at risk for type 1 diabetes, weaning to a hydrolyzed formula compared with a conventional formula did not reduce the cumulative incidence of type 1 diabetes after median follow-up for 11.5 years. These findings do not support a need to revise the dietary recommendations for infants at risk for type 1 diabetes. Funding Agencies|Eunice Kennedy Shriver National Institute of Child Health and Development (NICHD); National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health [HD040364, HD042444, HD051997]; Canadian Institutes of Health Research; Commission of the European Communities [QLK1-2002-00372]; European Foundation for the Study of Diabates/JDRF/Novo Nordisk; Academy of Finland (Centre of Excellence in Molecular Systems Immunology and Physiology Research) [250114]; Dutch Diabetes Research Foundation; Finnish Diabetes Research Foundation; JDRF

Published
2018

28. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

Author

Bowman P., Sulen A., Barbetti F., Beltrand J., Svalastoga P., Codner E., Tessmann E. H., Juliusson P. B., Skrivarhaug T., Pearson E. R., Flanagan S. E., Babiker T., Thomas N. J., Shepherd M. H., Ellard S., Klimes I., Szopa M., Polak M., Iafusco D., Hattersley A. T., Njolstad P. R., Aisenberg J., Akkurt I., Abdul-Latif H., Al-Abdullah A., Barak L., Van Den Bergh J., Bertrand A. -M., Bizzarri C., Bonfanti R., Bruel H., Burrows A., Cadario F., Cameron F. J., Carson D., Cartigny M., Cauvin V., Cave H., Chakera A., Chetan R., Chiari G., Couch B., Coutant R., Cummings E., Dankovcikova A., Davis L., Deiss D., Delvecchio M., Faleschini E., Fauret A. -L., Finn R., Ford T., Franco E. D., Gallen B. D., Gasperikova D., Guntamukkala P., Hakeem V., Hasegawa S., Hathout E. H., Heffernan E., Hill D., Ho J., Hoarau M., Holl R., Hoddinott R., Houghton J., Howard N., Hughes N., Hunter I., Hogasen A. K., Kuulasmaa H., Ioacara S., Iotova V., Irgens H., Jaap A., Jones K., Kapellen T., Kaufman E., Klinge A., Klupa T., Krishnaswamy R., Lafferty T., LeGault L., Lambert P., Malecki M. T., Malievsky O., Mathew R., Mathews F., McVie R., Menzel U., Metz C., Meulen J. V. D., Modgil G., Mul D., Muther S., Nuboer R., O'Connell S. M., O'Riordan S., Palko M., Patel K. A., Pesavento R., Piccinno E., Pillai J. K., Pruhova S., Punthakee Z., Rabbone I., Raile K., Rincon M., Rose D., Sanchez J., Sandereson S., Saxena V., Schebek M., Schmidt D., Shehadeh N., Shiels J. P. H., Silva J. M. C. L., Stanik J., Tinklin T., Tjora E., Tumini S., Tuomi T., Uehara A., Velde R. V. D., Vermeulen G., Visser U., Voorhoeve P., Walker J., Weill J., Weisner T., Werner A., Williams T., Woodhead H., oddegard R., Bowman, Pamela, Sulen, Åsta, Barbetti, Fabrizio, Beltrand, Jacque, Svalastoga, Pernille, Codner, Ethel, Tessmann, Ellen H, Juliusson, Petur B, Skrivarhaug, Torild, Pearson, Ewan R, Flanagan, Sarah E, Babiker, Tarig, Thomas, Nicholas J, Shepherd, Maggie H, Ellard, Sian, Klimes, Iwar, Szopa, Magdalena, Polak, Michel, Iafusco, Dario, Hattersley, Andrew T, Njølstad, Pål R, Aisenberg, Javier, Akkurt, Ilker, Abdul-Latif, Hussein, Al-Abdullah, Anee, Barak, Lubomir, Van Den Bergh, Joop, Bertrand, Anne-Marie, Bizzarri, Carla, Bonfanti, Riccardo, Bruel, Henri, Burrows, Anthony, Cadario, Francesco, Cameron, Fergus J., Carson, Denni, Cartigny, Maryse, Cauvin, Vittoria, Cave, Helene, Chakera, Ali, Chetan, Ravi, Chiari, Giovanni, Couch, Bob, Coutant, Régi, Cummings, Elizabeth, Dankovcikova, Adriana, Davis, Liz, Deiss, Dorothee, Delvecchio, Maurizio, Faleschini, Elena, Fauret, Anne-Laure, Finn, Roisin, Ford, Tamsin, Franco, Elisa De, Gallen, Bastian De, Gasperíková, Daniela, Guntamukkala, Padma, Hakeem, Vaseem, Hasegawa, Shinji, Hathout, Eba H., Heffernan, Emmeline, Hill, David, Ho, Josephine, Hoarau, Marie, Holl, Reinhard, Hoddinott, Rebecca, Houghton, Jane, Howard, Neville, Hughes, Natalie, Hunter, Ian, Høgåsen, Anne Kirsti, Kuulasmaa, Helena, Iocara, Sorin, Iotova, Violeta, Irgens, Henrik, Jaap, Alan, Jones, Kenneth, Kapellen, Thoma, Kaufman, Ellen, Klinge, Andrea, Klupa, Tomasz, Krishnaswamy, Ramaiyer, Lafferty, Tony, Legault, Laurent, Lambert, Paul, Malecki, Maciej T, Malievsky, Olag, Mathew, Revi, Mathews, France, Mcvie, Robert, Menzel, Ulrike, Metz, Chantale, Meulen, John Van Der, Modgil, Gita, Mul, Dick, Muther, Silvia, Nuboer, Roo, O'Connell, Susan M., O'Riordan, Stephen, Palko, Miroslav, Patel, Kashyap Amratlal, Pesavento, Roberta, Piccinno, Elvira, Pillai, Janani Kumaraguru, Pruhova, Stephanka, Punthakee, Zubin, Rabbone, Ivana, Raile, Klemen, Rincon, Marielisa, Rose, Danette, Sanchez, Janine, Sandereson, Susan, Saxena, Vinay, Schebek, Martin, Schmidt, Dorothee, Shehadeh, Naim, Shiels, Julian P. H., Silva, Jose M. C. L, Stanik, Juraj, Tinklin, Tracy, Tjora, Erling, Tumini, Stefano, Tuomi, Tiinamaija, Uehara, Akiko, Velde, Robert Van der, Vermeulen, Guido, Visser, Uma, Voorhoeve, Paul, Walker, Jan, Weill, Jaque, Weisner, Tobia, Werner, Andrea, Williams, Toni, Woodhead, Helen, Øddegård, Rønnaug, Bowman, P., Sulen, A., Barbetti, F., Beltrand, J., Svalastoga, P., Codner, E., Tessmann, E. H., Juliusson, P. B., Skrivarhaug, T., Pearson, E. R., Flanagan, S. E., Babiker, T., Thomas, N. J., Shepherd, M. H., Ellard, S., Klimes, I., Szopa, M., Polak, M., Iafusco, D., Hattersley, A. T., Njolstad, P. R., Aisenberg, J., Akkurt, I., Abdul-Latif, H., Al-Abdullah, A., Barak, L., Van Den Bergh, J., Bertrand, A. -M., Bizzarri, C., Bonfanti, R., Bruel, H., Burrows, A., Cadario, F., Cameron, F. J., Carson, D., Cartigny, M., Cauvin, V., Cave, H., Chakera, A., Chetan, R., Chiari, G., Couch, B., Coutant, R., Cummings, E., Dankovcikova, A., Davis, L., Deiss, D., Delvecchio, M., Faleschini, E., Fauret, A. -L., Finn, R., Ford, T., Franco, E. D., Gallen, B. D., Gasperikova, D., Guntamukkala, P., Hakeem, V., Hasegawa, S., Hathout, E. H., Heffernan, E., Hill, D., Ho, J., Hoarau, M., Holl, R., Hoddinott, R., Houghton, J., Howard, N., Hughes, N., Hunter, I., Hogasen, A. K., Kuulasmaa, H., Ioacara, S., Iotova, V., Irgens, H., Jaap, A., Jones, K., Kapellen, T., Kaufman, E., Klinge, A., Klupa, T., Krishnaswamy, R., Lafferty, T., Legault, L., Lambert, P., Malecki, M. T., Malievsky, O., Mathew, R., Mathews, F., Mcvie, R., Menzel, U., Metz, C., Meulen, J. V. D., Modgil, G., Mul, D., Muther, S., Nuboer, R., O'Connell, S. M., O'Riordan, S., Palko, M., Patel, K. A., Pesavento, R., Piccinno, E., Pillai, J. K., Pruhova, S., Punthakee, Z., Rabbone, I., Raile, K., Rincon, M., Rose, D., Sanchez, J., Sandereson, S., Saxena, V., Schebek, M., Schmidt, D., Shehadeh, N., Shiels, J. P. H., Silva, J. M. C. L., Stanik, J., Tinklin, T., Tjora, E., Tumini, S., Tuomi, T., Uehara, A., Velde, R. V. D., Vermeulen, G., Visser, U., Voorhoeve, P., Walker, J., Weill, J., Weisner, T., Werner, A., Williams, T., Woodhead, H., and Oddegard, R.

Subjects
Endocrinology, Endocrinology, Diabetes and Metabolism, Internal Medicine
Abstract

Background: KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP-sensitive potassium channel activation. 90% of patients successfully transfer from insulin to oral sulfonylureas with excellent initial glycaemic control; however, whether this control is maintained in the long term is unclear. Sulfonylurea failure is seen in about 44% of people with type 2 diabetes after 5 years of treatment. Therefore, we did a 10-year multicentre follow-up study of a large international cohort of patients with KCNJ11 permanent neonatal diabetes to address the key questions relating to long-term efficacy and safety of sulfonylureas in these patients. Methods: In this multicentre, international cohort study, all patients diagnosed with KCNJ11 permanent neonatal diabetes at five laboratories in Exeter (UK), Rome (Italy), Bergen (Norway), Paris (France), and Krakow (Poland), who transferred from insulin to oral sulfonylureas before Nov 30, 2006, were eligible for inclusion. Clinicians collected clinical characteristics and annual data relating to glycaemic control, sulfonylurea dose, severe hypoglycaemia, side-effects, diabetes complications, and growth. The main outcomes of interest were sulfonylurea failure, defined as permanent reintroduction of daily insulin, and metabolic control, specifically HbA 1c and sulfonylurea dose. Neurological features associated with KCNJ11 permanent neonatal diabetes were also assessed. This study is registered with ClinicalTrials.gov, number NCT02624817. Findings: 90 patients were identified as being eligible for inclusion and 81 were enrolled in the study and provided long-term (>5·5 years cut-off) outcome data. Median follow-up duration for the whole cohort was 10·2 years (IQR 9·3–10·8). At most recent follow-up (between Dec 1, 2012, and Oct 4, 2016), 75 (93%) of 81 participants remained on sulfonylurea therapy alone. Excellent glycaemic control was maintained for patients for whom we had paired data on HbA 1c and sulfonylurea at all time points (ie, pre-transfer [for HbA 1c ], year 1, and most recent follow-up; n=64)—median HbA 1c was 8·1% (IQR 7·2–9·2; 65·0 mmol/mol [55·2–77·1]) before transfer to sulfonylureas, 5·9% (5·4–6·5; 41·0 mmol/mol [35·5–47·5]; p

Published
2018

30. Growth hormone treatment improves final height and nutritional status of children with chronic kidney disease and growth deceleration

Author

Dello Strologo L, Cavallo L, Cappa M, Mario Giordano, Faienza Mf, Maurizio Delvecchio, Bizzarri C, and Lonero A

Subjects
Male, medicine.medical_specialty, Deceleration, Endocrinology, Diabetes and Metabolism, 030232 urology & nephrology, Physiology, Nutritional Status, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, 030212 general & internal medicine, Renal Insufficiency, Chronic, Child, Growth Disorders, Growth retardation, Human Growth Hormone, business.industry, Human growth hormone, Final height, Case-control study, Nutritional status, Prognosis, medicine.disease, Body Height, Growth hormone treatment, Case-Control Studies, Female, Complication, business, Follow-Up Studies, Kidney disease
Abstract

Growth retardation is a common complication of chronic kidney disease (CKD) in children. Treatment with recombinant human growth hormone (rhGH) has been used to help short children with CKD to attain a height more in keeping with their age group, but the scientific evidence regarding the effect of rhGH on final height is scarce. Final heights of children with CKD receiving rhGH treatment (cases) were compared with final heights of a matched cohort of children with CKD that did not receive rhGH therapy (controls). Sixty-eight rhGH-treated cases (44 boys) were compared with 92 untreated controls (60 boys). Mean duration of rhGH therapy was 4.2 ± 0.9 years; rhGH dose was 0.3 ± 0.07 mg/kg/week. Height SDS at baseline was lower in rhGH-treated patients than in controls (−2.00 ± 1.02 versus −0.96 ± 1.11, p

Published
2017
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32. Dalla politica di coesione alla coesione territoriale

Author

Bencardino, F, D’Orazio, A, Cresta, A, Greco, I, Grandi, S, Ricci, A, Faccioli, M, and Bizzarri, C

Subjects
Settore M-GGR/02 - Geografia Economico-Politica, coesione territoriale, coesione territoriale, politiche europee di sviluppo, politiche europee di sviluppo
Published
2018

34. XK-Aprosencephaly and Related Entities

Author

Renzetti, G., Villani, A., Bizzarri, C., Chessa, L., Vignati, E., Gianotti, A., Cappa, M., Szakacs, Juliana, Townsend, Jeanette J., Miller, Mark E., Opitz, John M., Kennedy, Anne M., and Byrne, Janice L.

Published
2005
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39. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study

Author

Bowman, P, Sulen, A, Barbetti, F, Beltrand, J, Svalastoga, P, Codner, E, Tessmann, EH, Juliusson, PB, Skrivarhaug, T, Pearson, ER, Flanagan, SE, Babiker, T, Thomas, NJ, Shepherd, MH, Ellard, S, Klimes, I, Szopa, M, Polak, M, Iafusco, D, Hattersley, AT, Njolstad, PR, Houghton, J, Patel, KA, Mathews, F, De Franco, E, Ford, T, Pillai, JK, Finn, R, Chakera, A, Iotova, V, Malecki, MT, Klupa, T, Gasperikova, D, Stanik, J, Barak, L, Dankovcikova, A, Palko, M, Walker, J, Visser, U, Howard, N, Lafferty, T, Cummings, E, Guntamukkala, P, Rose, D, Hughes, N, Couch, B, Punthakee, Z, Van der Meulen, J, LeGault, L, Sanderson, S, Krishnaswamy, R, Ho, J, Modgil, G, Lambert, P, Shield, JPH, Hoddinott, R, Burrows, A, Chetan, R, Hakeem, V, Werner, A, Muther, S, Deiss, D, Raile, K, Weisner, T, Kapellen, T, Akkurt, I, Menzel, U, Klinge, A, Schmidt, D, Heffernan, E, Carson, D, Uehara, A, Hasegawa, S, Kuulasmaa, H, Tuomi, T, Vermeulen, G, Mul, D, Jaap, A, Hill, D, Hunter, I, Rincon, M, McVie, R, Williams, T, Saxena, V, Al-Abdullah, A, Tinklin, T, Kaufman, E, Davis, L, O'Riordan, S, O'Connell, SM, Holl, R, Schebek, M, De Gallen, B, Voorhoeve, P, Malievsky, O, Mathew, R, Abdul-Latif, H, Aisenberg, J, Ioacara, S, Cameron, FJ, Sanchez, J, Jones, K, Van der Velde, R, Van den Bergh, J, Woodhead, H, Tjora, E, Irgens, H, Hogåsen, AK, Odegard, R, Hathout, EH, Nuboer, R, Pruhova, S, Shehadeh, N, Silva, JMCL, Cave, H, Fauret, A-L, Hoarau, M, Coutant, R, Metz, C, Bertrand, A-M, Bruel, H, Cartigny, M, Weill, J, Bizzarri, C, Bonfanti, R, Cadario, F, Cauvin, V, Chiari, G, Delvecchio, M, Piccinno, E, Faleschini, E, Pesavento, R, Rabbone, I, Tumini, S, Bowman, P, Sulen, A, Barbetti, F, Beltrand, J, Svalastoga, P, Codner, E, Tessmann, EH, Juliusson, PB, Skrivarhaug, T, Pearson, ER, Flanagan, SE, Babiker, T, Thomas, NJ, Shepherd, MH, Ellard, S, Klimes, I, Szopa, M, Polak, M, Iafusco, D, Hattersley, AT, Njolstad, PR, Houghton, J, Patel, KA, Mathews, F, De Franco, E, Ford, T, Pillai, JK, Finn, R, Chakera, A, Iotova, V, Malecki, MT, Klupa, T, Gasperikova, D, Stanik, J, Barak, L, Dankovcikova, A, Palko, M, Walker, J, Visser, U, Howard, N, Lafferty, T, Cummings, E, Guntamukkala, P, Rose, D, Hughes, N, Couch, B, Punthakee, Z, Van der Meulen, J, LeGault, L, Sanderson, S, Krishnaswamy, R, Ho, J, Modgil, G, Lambert, P, Shield, JPH, Hoddinott, R, Burrows, A, Chetan, R, Hakeem, V, Werner, A, Muther, S, Deiss, D, Raile, K, Weisner, T, Kapellen, T, Akkurt, I, Menzel, U, Klinge, A, Schmidt, D, Heffernan, E, Carson, D, Uehara, A, Hasegawa, S, Kuulasmaa, H, Tuomi, T, Vermeulen, G, Mul, D, Jaap, A, Hill, D, Hunter, I, Rincon, M, McVie, R, Williams, T, Saxena, V, Al-Abdullah, A, Tinklin, T, Kaufman, E, Davis, L, O'Riordan, S, O'Connell, SM, Holl, R, Schebek, M, De Gallen, B, Voorhoeve, P, Malievsky, O, Mathew, R, Abdul-Latif, H, Aisenberg, J, Ioacara, S, Cameron, FJ, Sanchez, J, Jones, K, Van der Velde, R, Van den Bergh, J, Woodhead, H, Tjora, E, Irgens, H, Hogåsen, AK, Odegard, R, Hathout, EH, Nuboer, R, Pruhova, S, Shehadeh, N, Silva, JMCL, Cave, H, Fauret, A-L, Hoarau, M, Coutant, R, Metz, C, Bertrand, A-M, Bruel, H, Cartigny, M, Weill, J, Bizzarri, C, Bonfanti, R, Cadario, F, Cauvin, V, Chiari, G, Delvecchio, M, Piccinno, E, Faleschini, E, Pesavento, R, Rabbone, I, and Tumini, S

Abstract

BACKGROUND: KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP-sensitive potassium channel activation. 90% of patients successfully transfer from insulin to oral sulfonylureas with excellent initial glycaemic control; however, whether this control is maintained in the long term is unclear. Sulfonylurea failure is seen in about 44% of people with type 2 diabetes after 5 years of treatment. Therefore, we did a 10-year multicentre follow-up study of a large international cohort of patients with KCNJ11 permanent neonatal diabetes to address the key questions relating to long-term efficacy and safety of sulfonylureas in these patients. METHODS: In this multicentre, international cohort study, all patients diagnosed with KCNJ11 permanent neonatal diabetes at five laboratories in Exeter (UK), Rome (Italy), Bergen (Norway), Paris (France), and Krakow (Poland), who transferred from insulin to oral sulfonylureas before Nov 30, 2006, were eligible for inclusion. Clinicians collected clinical characteristics and annual data relating to glycaemic control, sulfonylurea dose, severe hypoglycaemia, side-effects, diabetes complications, and growth. The main outcomes of interest were sulfonylurea failure, defined as permanent reintroduction of daily insulin, and metabolic control, specifically HbA1c and sulfonylurea dose. Neurological features associated with KCNJ11 permanent neonatal diabetes were also assessed. This study is registered with ClinicalTrials.gov, number NCT02624817. FINDINGS: 90 patients were identified as being eligible for inclusion and 81 were enrolled in the study and provided long-term (>5·5 years cut-off) outcome data. Median follow-up duration for the whole cohort was 10·2 years (IQR 9·3-10·8). At most recent follow-up (between Dec 1, 2012, and Oct 4, 2016), 75 (93%) of 81 participants remained on sulfonylurea therapy alone. Excellent glycaemic control was maintained for patients for whom we had paired data on HbA1c and sulfonylurea at al

Published
2018

40. Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

Author

Bonomi, M., Vezzoli, V., Krausz, C., Guizzardi, F., Vezzani, S., Simoni, M., Bassi, I., Duminuco, P., Di Iorgi, N., Giavoli, C., Pizzocaro, A., Russo, G., Moro, M., Fatti, L., Ferlin, A., Mazzanti, L., Zatelli, M. C., Cannavo, S., Isidori, A. M., Pincelli, A. I., Prodam, F., Mancini, A., Limone, P., Tanda, M. L., Gaudino, R., Salerno, M., Francesca, P., Maghnie, M., Maggi, M. C., Persani, L., Aimaretti, G., Altobell, M., Ambrosio, M. R., Andrioli, M., Angelett, G., Arecco, F., Arnald, G., Arosio, M., Balsamo, A., Baldassarr, M., Bartalena, L., Bazzon, N., Beccari, L., Beck-Peccoz, P., Bellastella, G., Bellizz, M., Benedicent, F., Bernasconi, S., Bizzarri, C., Bona, G., Bonadonna, S., Borrett, G., Boschetti, M., Brunani, A., Brunelli, V., Buz, F., Cacciatore, C., Cangiano, B., Cappa, M., Casalone, R., Cassio, A., Cavarzere, P., Cherubini, V., Ciampani, T., Cicognan, D., Cignarell, A., Cisternin, M., Colombo, P., Corbetta, S., Corciul, N., Corona, G., Cozzi, R., Crivellaro, C., Dalle Mule, I., Danesi, L., Eli, A. V. D., Degli Uberti, E., De Leo, S., Della Valle, E., De Marchi, M., Di Mambr, A., Fabbri, A., Foresta, C., Forti, G., Franceschi, A. R., Garolla, A., Ghezzi, M., Giacomozzi, C., Giusti, M., Grosso, E., Guabello, G., Guarneri, M. P., Grugni, G., Lanfranco, F., Lania, A., Lanzi, R., Larizza, L., Lenzi, A., Loche, S., Loli, P., Lombardi, V., Mandrile, G., Manieri, C., Mantovani, G., Marelli, S., Marzullo, M., Mencarelli, M. A., Migone, N., Motta, G., Neri, G., Padov, G., Parenti, G., Pasquino, B., Pia, A., Piantanida, E., Pignatti, E., Pilotta, A., Pivett, B., Pollazzon, M., Pontecorvi, A., Porcelli, P., Pozza, G. B., Pozzobon, G., Radetti, G., Razzore, P., Rocchett, L., Roncoron, R., Rossi, G., Sala, E., Salvatoni, A., Salvini, F., Secc, A., Segni, M., Selice, R., Sgaramella, P., Sileo, F., Sinisi, A. A., Sirchia, F., Spada, A., Tresoldi, A., Vigneri, R., Weber, G., Zucchini, S., Bassi I., Moro M., Pincelli A. I., Mancini A. (ORCID:0000-0002-7707-4564), Cappa M., Corbetta S., Corona G., Danesi L., Ghezzi M., Giusti M. (ORCID:0000-0001-5767-8785), Grugni G., Parenti G., Pontecorvi A. (ORCID:0000-0003-0570-6865), Sala E., Bonomi, M., Vezzoli, V., Krausz, C., Guizzardi, F., Vezzani, S., Simoni, M., Bassi, I., Duminuco, P., Di Iorgi, N., Giavoli, C., Pizzocaro, A., Russo, G., Moro, M., Fatti, L., Ferlin, A., Mazzanti, L., Zatelli, M. C., Cannavo, S., Isidori, A. M., Pincelli, A. I., Prodam, F., Mancini, A., Limone, P., Tanda, M. L., Gaudino, R., Salerno, M., Francesca, P., Maghnie, M., Maggi, M. C., Persani, L., Aimaretti, G., Altobell, M., Ambrosio, M. R., Andrioli, M., Angelett, G., Arecco, F., Arnald, G., Arosio, M., Balsamo, A., Baldassarr, M., Bartalena, L., Bazzon, N., Beccari, L., Beck-Peccoz, P., Bellastella, G., Bellizz, M., Benedicent, F., Bernasconi, S., Bizzarri, C., Bona, G., Bonadonna, S., Borrett, G., Boschetti, M., Brunani, A., Brunelli, V., Buz, F., Cacciatore, C., Cangiano, B., Cappa, M., Casalone, R., Cassio, A., Cavarzere, P., Cherubini, V., Ciampani, T., Cicognan, D., Cignarell, A., Cisternin, M., Colombo, P., Corbetta, S., Corciul, N., Corona, G., Cozzi, R., Crivellaro, C., Dalle Mule, I., Danesi, L., Eli, A. V. D., Degli Uberti, E., De Leo, S., Della Valle, E., De Marchi, M., Di Mambr, A., Fabbri, A., Foresta, C., Forti, G., Franceschi, A. R., Garolla, A., Ghezzi, M., Giacomozzi, C., Giusti, M., Grosso, E., Guabello, G., Guarneri, M. P., Grugni, G., Lanfranco, F., Lania, A., Lanzi, R., Larizza, L., Lenzi, A., Loche, S., Loli, P., Lombardi, V., Mandrile, G., Manieri, C., Mantovani, G., Marelli, S., Marzullo, M., Mencarelli, M. A., Migone, N., Motta, G., Neri, G., Padov, G., Parenti, G., Pasquino, B., Pia, A., Piantanida, E., Pignatti, E., Pilotta, A., Pivett, B., Pollazzon, M., Pontecorvi, A., Porcelli, P., Pozza, G. B., Pozzobon, G., Radetti, G., Razzore, P., Rocchett, L., Roncoron, R., Rossi, G., Sala, E., Salvatoni, A., Salvini, F., Secc, A., Segni, M., Selice, R., Sgaramella, P., Sileo, F., Sinisi, A. A., Sirchia, F., Spada, A., Tresoldi, A., Vigneri, R., Weber, G., Zucchini, S., Bassi I., Moro M., Pincelli A. I., Mancini A. (ORCID:0000-0002-7707-4564), Cappa M., Corbetta S., Corona G., Danesi L., Ghezzi M., Giusti M. (ORCID:0000-0001-5767-8785), Grugni G., Parenti G., Pontecorvi A. (ORCID:0000-0003-0570-6865), and Sala E.

Abstract

Objective: Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and nonreproductive anomalies might be present although information on their frequency are scanty, particularly according to the age of presentation. Design: Observational cohort study carried out between January 2008 and June 2016 within a national network of academic or general hospitals. Methods: We performed a detailed phenotyping of 503 IHH patients with: (1) manifestations of hypogonadism with low sex steroid hormone and low/normal gonadotropins; (2) absence of expansive hypothalamic/pituitary lesions or multiple pituitary hormone defects. Cohort was divided on IHH onset (PPO, pre-pubertal onset or AO, adult onset) and olfactory function: PPO-nIHH (n = 275), KS (n = 184), AO-nIHH (n = 36) and AO-doIHH (AO-IHH with defective olfaction, n = 8). Results: 90% of patients were classifed as PPO and 10% as AO. Typical midline and olfactory defects, bimanual synkinesis and familiarity for pubertal delay were also found among the AO-IHH. Mean age at diagnosis was signifcantly earlier and more frequently associated with congenital hypogonadism stigmata in patients with Kallmann's syndrome (KS). Synkinesis, renal and male genital tract anomalies were enriched in KS. Overweight/obesity are signifcantly associated with AO-IHH rather than PPO-IHH. Conclusions: Patients with KS are more prone to develop a severe and complex phenotype than nIHH. The presence of typical extra-gonadal defects and familiarity for PPO-IHH among the AO-IHH patients indicates a common predisposition with variable clinical expression. Overall, these fndings improve the understanding of IHH and may have a positive impact on the management of patients and their families.

Published
2018

41. Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH)

Author

Bonomi, Marco, primary, Vezzoli, Valeria, additional, Krausz, Csilla, additional, Guizzardi, Fabiana, additional, Vezzani, Silvia, additional, Simoni, Manuela, additional, Bassi, Ivan, additional, Duminuco, Paolo, additional, Di Iorgi, Natascia, additional, Giavoli, Claudia, additional, Pizzocaro, Alessandro, additional, Russo, Gianni, additional, Moro, Mirella, additional, Fatti, Letizia, additional, Ferlin, Alberto, additional, Mazzanti, Laura, additional, Zatelli, Maria Chiara, additional, Cannavò, Salvo, additional, Isidori, Andrea M, additional, Pincelli, Angela Ida, additional, Prodam, Flavia, additional, Mancini, Antonio, additional, Limone, Paolo, additional, Tanda, Maria Laura, additional, Gaudino, Rossella, additional, Salerno, Mariacarolina, additional, Francesca, Pregnolato, additional, Maghnie, Mohamad, additional, Maggi, Mario, additional, Persani, Luca, additional, _, _, additional, Aimaretti, G, additional, Altobelli, M, additional, Ambrosio, M R, additional, Andrioli, M, additional, Angeletti, G, additional, Arecco, F, additional, Arnaldi, G, additional, Arosio, M, additional, Balsamo, A, additional, Baldassarri, M, additional, Bartalena, L, additional, Bazzoni, N, additional, Beccaria, L, additional, Beck-Peccoz, P, additional, Bellastella, G, additional, Bellizzi, M, additional, Benedicenti, F, additional, Bernasconi, S, additional, Bizzarri, C, additional, Bona, G, additional, Bonadonna, S, additional, Borretta, G, additional, Boschetti, M, additional, Brunani, A, additional, Brunelli, V, additional, Buzi, F, additional, Cacciatore, C, additional, Cangiano, B, additional, Cappa, M, additional, Casalone, R, additional, Cassio, A, additional, Cavarzere, P, additional, Cherubini, V, additional, Ciampani, T, additional, Cicognani, D, additional, Cignarelli, A, additional, Cisternino, M, additional, Colombo, P, additional, Corbetta, S, additional, Corciulo, N, additional, Corona, G, additional, Cozzi, R, additional, Crivellaro, C, additional, Dalle Mule, I, additional, Danesi, L, additional, D’Elia, A V, additional, degli Uberti, E, additional, De Leo, S, additional, Della Valle, E, additional, De Marchi, M, additional, Di Iorgi, N, additional, Di Mambro, A, additional, Fabbri, A, additional, Foresta, C, additional, Forti, G, additional, Franceschi, A R, additional, Garolla, A, additional, Ghezzi, M, additional, Giacomozzi, C, additional, Giusti, M, additional, Grosso, E, additional, Guabello, G, additional, Guarneri, M P, additional, Grugni, G, additional, Isidori, A M, additional, Lanfranco, F, additional, Lania, A, additional, Lanzi, R, additional, Larizza, L, additional, Lenzi, A, additional, Loche, S, additional, Loli, P, additional, Lombardi, V, additional, Maggio, M C, additional, Mandrile, G, additional, Manieri, C, additional, Mantovani, G, additional, Marelli, S, additional, Marzullo, M, additional, Mencarelli, M A, additional, Migone, N, additional, Motta, G, additional, Neri, G, additional, Padova, G, additional, Parenti, G, additional, Pasquino, B, additional, Pia, A, additional, Piantanida, E, additional, Pignatti, E, additional, Pilotta, A, additional, Pivetta, B, additional, Pollazzon, M, additional, Pontecorvi, A, additional, Porcelli, P, additional, Pozzan, G B, additional, Pozzobon, G, additional, Radetti, G, additional, Razzore, P, additional, Rocchetti, L, additional, Roncoroni, R, additional, Rossi, G, additional, Sala, E, additional, Salvatoni, A, additional, Salvini, F, additional, Secco, A, additional, Segni, M, additional, Selice, R, additional, Sgaramella, P, additional, Sileo, F, additional, Sinisi, A A, additional, Sirchia, F, additional, Spada, A, additional, Tresoldi, A, additional, Vigneri, R, additional, Weber, G, additional, and Zucchini, S, additional

Published
2018
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44. Raised C-reactive protein levels in patients with recent onset type 1 diabetes

Author

Picardi, A., Valorani, M. G., Vespasiani Gentilucci, U., Manfrini, S., Ciofini, O., Cappa, M., Guglielmi, C., Pozzilli, P., Visalli, N., Fioriti, E., Valente, L., Anguissola Gb, Costanza F., Cipolloni, L., Merola, K. M., Montemari, A., Matteoli, M. C., Patera, P., Crino, A., Bizzarri, C., Lauria Pantano, P. A., Cavallo, Maria Gisella, Schiaffini, R., Spera, S., Suraci, C., Pitocco, D., and Ghirlanda, G.

Subjects
Adult, Male, Percentile, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Alpha (ethology), Orosomucoid, Endocrinology, cardiovascular disease, Internal medicine, Diabetes mellitus, alpha(1)-acid glycoprotein, high-sensitive c-reactive protein, type 1 diabetes mellitus, Internal Medicine, medicine, Humans, Child, Type 1 diabetes, biology, business.industry, Insulin, medicine.disease, C-Reactive Protein, Diabetes Mellitus, Type 1, Child, Preschool, Metabolic control analysis, biology.protein, Female, business, Body mass index
Abstract

Background To investigate serum concentrations of high-sensitive C-reactive protein (CRP) and alpha(1)-acid glycoprotein (AGP) in patients with T1DM, at diagnosis and after 12 months of intensive insulin therapy (T12). Methods CRP and AGP were measured in 44 recent onset T1DM patients (26M/18F, mean age 14.9 ± 9.1 years), and 44 age- and sex-matched controls, using a highly sensitive immunonephelometric assay. Results There were no significant differences in the concentrations of high-sensitive C-reactive protein (hs-CRP) and AGP between patients and controls. hs-CRP levels significantly increased in patients at T12 compared to the levels at diagnosis [0.69 (0.14–15.5) versus 0.43 (0.14–7.47) mg/L, p < 0.05; for males: 0.77 (0.14–15.5) versus 0.35 (0.14–7.47) mg/L, p < 0.05; for females the increase was not significant]. AGP levels were not different at T12 compared to diagnosis. No significant correlations were found between hs-CRP and body mass index (BMI), C-peptide, glycosylated haemoglobin, or insulin dose. A strong correlation was found between hs-CRP values at diagnosis and those at T12 (ρ = 0.73, p < 0.001); indeed, patients with hs-CRP levels above the 50th percentile at diagnosis showed significantly increased hs-CRP values at T12 compared to patients with baseline hs-CRP levels under the 50th percentile [1.61 (0.18–15.5) versus 0.16 (0.14–1.92) mg/L, p < 0.0001)], and to controls [0.55 (0.14–6.50), p = 0.001]. Conclusions This is the first report showing that, despite good metabolic control, 1 year of overt T1DM is sufficient to increase hs-CRP levels, especially in males. hs-CRP levels at diagnosis is a predictor for the values observed at 12 months, suggesting the possibility to select a subgroup of patients requiring strict follow-up for cardiovascular complications. Copyright © 2006 John Wiley & Sons, Ltd.

Published
2007
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45. A New Homozygous Frameshift Mutation in the HSD3B2 Gene in an Apparently Nonconsanguineous Italian Family

Author

Bizzarri, C, Massimi, A, Federici, L, Cualbu, A, Loche, S, Bellincampi, L, Bernardini, S, Cappa, M, and Porzio, O

Subjects
Adult, Male, Frameshift HSD3B2 mutation, Classical congenital adrenal hyperplasia, Congenital, Structure-Activity Relationship, Adrenocorticotropic Hormone, Protein Domains, Renin, Humans, Family, 3β-Hydroxysteroid dehydrogenase mutations, Frameshift Mutation, Adrenal Hyperplasia, Adrenal Hyperplasia, Congenital, Progesterone Reductase, Settore BIO/12, 17-alpha-Hydroxyprogesterone, Congenital adrenal hyperplasia, Androstenedione, Infant, Newborn, Infant, Newborn, Female, Italy
Abstract

3β-Hydroxysteroid dehydrogenase (3β-HSD) deficiency is a rare cause of congenital adrenal hyperplasia (CAH) caused by inactivating mutations in the HSD3B2 gene.We report the molecular and structural analysis of the HSD3B2 gene in a 46,XY child born to apparently nonconsanguineous parents and presenting ambiguous genitalia and salt wasting. The steroid profile showed elevated concentrations of 17-hydroxyprogesterone, androstenedione, ACTH and plasma renin, but normal values of cortisol and dehydroepiandrosterone sulfate. Unexpectedly, plasma aldosterone was high. For structural and functional analyses, the three-dimensional structure of 3β-HSD2 was modeled using the crystal structure of the short-chain dehydrogenase Gox2253 from Gluconobacter oxydans as a template.The direct DNA sequence of the child revealed a new homozygous frameshift mutation in exon 4 of the HSD3B2 gene, a single nucleotide deletion at codon 319 [GTC(Val)x2192;GC], yielding premature stop codon in position 367. Molecular homology modeling and secondary structure predictions suggested that the variant sequence might both alter the substrate-binding cleft and compromise the overall stability of the enzyme.We have described the first HSD3B2 gene mutation in the Italian population and analyzed its effect in the context of the 3β-HSD2 structure and function.

Published
2015

46. Early and progressive insulin resistance in young, non-obese cancer survivors treated with hematopoietic stem cell transplantation

Author

Bizzarri, C., Pinto, R. M., Ciccone, S., Brescia, L. P., Locatelli, F., and Cappa, M.

Subjects
Male, Transplantation Conditioning, Adolescent, Hematopoietic stem cell transplantation, Comorbidity, Hypothyroidism, Non-alcoholic Fatty Liver Disease, Risk Factors, Glucose Intolerance, Body Fat Distribution, Humans, Prospective Studies, Survivors, Obesity, cancer survivor, child, hematopoietic stem cell transplantation, insulin resistance, metabolic syndrome, obesity, Child, Anthropometry, Hypogonadism, Body Weight, Infant, Insulin resistance, Metabolic syndrome, Hormones, Causality, Cross-Sectional Studies, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Cardiovascular Diseases, Case-Control Studies, Child, Preschool, Hematologic Neoplasms, Cancer survivor, Disease Progression, Female, Whole-Body Irradiation
Abstract

It is unclear whether there is a causative relationship between the development of metabolic syndrome (MS) and increased risk of early cardiovascular morbidity in patients receiving hematopoietic stem cell transplantation (HSCT) during childhood. Early identification of risk factors associated with insulin resistance, MS, and abnormal glucose tolerance during childhood or adolescence in these patients could represent a useful tool for preventing cardiovascular disorders.In a single-center, prospective, descriptive, cross-sectional study, we studied 45 survivors of hematological malignancies (age: 13.9 ± 4.8 years) treated with HSCT before the age of 18 years and 90 matched healthy controls. We collected clinical, imaging, and laboratory data including oral glucose tolerance test (OGTT).7/45 patients (15.6%) showed abnormal glucose tolerance at OGTT, 1/45 (2.2%) was obese, and none fulfilled the criteria for MS. A waist/height ratio0.5 was associated with patients with abnormal glucose tolerance (85.7% of cases), compared to patients with normal glucose tolerance (42.1%) and controls (23.3%). In patients with abnormal glucose tolerance, use of total body irradiation (TBI) as conditioning regimen was more common, and time elapsed from HSCT was longer.Patients treated with HSCT may develop insulin resistance early after transplantation. They do not show overt obesity, but have redistribution of fat tissue with central fat accumulation. The main factors associated with increased metabolic risk are TBI and time from HSCT. Evaluation of MS and glucose tolerance should be part of hormonal follow-up, which should be routinely proposed to these patients.

Published
2015

47. Lack of red hair phenotype in a North-African obese child homozygous for a novel POMC-null mutation: nonsense-mediated decay RNA evaluation and hair pigment chemical analysis

Author

Cirillo G, Marini R, Ito S, Wakamatsu K, Scianguetta S, Bizzarri C, Romano A, GRANDONE, Anna, PERRONE, Laura, Cappa M, MIRAGLIA DEL GIUDICE, Emanuele, Cirillo, G, Marini, R, Ito, S, Wakamatsu, K, Scianguetta, S, Bizzarri, C, Romano, A, Grandone, Anna, Perrone, Laura, Cappa, M, and MIRAGLIA DEL GIUDICE, Emanuele

Published
2012

48. Combined therapy with insulin and rGH in thirteen Italian patients with type 1 diabetes (T1DM) and growth disorders

Author

Zucchini, S., Pozzobon, G., Bonfanti, R., Vannelli, S., Rabbone, I., Maghnie, M., Bizzarri, C., Tumini, S., Lenzi, L., Maggio, M. C., Iafusco, D., Marigliano, M., Cherubini, V., Iughetti, Lorenzo, Zucchini, S, Pozzobon, G, Bonfanti, R, Vannelli, S, Rabbone, I, Maghnie, M, Bizzarri, C, Tumini, S, Lenzi, L, Maggio, M C, Iafusco, D, Marigliano, M, Cherubini, V, and Iughetti, L

Subjects
Settore MED/38 - Pediatria Generale E Specialistica, type 1 diabetes, T1DM, GH, Insulin, GH
Abstract

Background: Combined GH and insulin therapy are rarely prescribed in pediatric pts because the association of GHD and T1DM is rare and maybe for the difficulties in managing a double therapy with opposite effects on glucose metabolism. Objective and hypotheses: To investigate on the attitude of pediatric endo-diabetologists in treating these pts. Methods: Data were collected from over 50 centres belonging to the ISPED. The inclusion criterion was based on the double therapy for at least 6 months with insulin due to T1DM, and rGH, due to growth impairment. Results: Most centres stated that the use of combined therapy was considered uncomfortable and frequently avoided, whereas 10 centres reported the treatment of 13 pts (7M, 6F). In 7 pts T1DM was the first diagnosis (age at onset from 1.5 to 9.5 yrs) and they were treated with insulin (group 1) and with rGH subsequently (after 0.5-9.75 yrs) due to idiopathic GHD in 4 pts, Turner s. in 1 pt, Leri-Weill s. in 1 pt and bone dysplasia in 1 pt. In 6 pts rGH therapy was started first (age at start 2.5-12 yrs) due to idiopathic GHD in 4 pts, organic GHD in 1 pt and Turner s. in 1 pt. Height SDS at the start of rGH therapy ranged from -2.5 to -3.9. Longest duration of rGH therapy was 7 yrs and 5 pts are still treated. Insulin schedule was with MDI in 10 pts and with CSII in the remaining 3. In the 7 pts of group 1, mean insulin dose increased during the first 6 months after rGH start from 0.68 to 1.06 U/kg (p=0.03). HbA1c was not modified after 6 months compared to the baseline value (7.62±0.8 vs 7.76±0.57). In the pt with Leri-Weill s. rGH therapy was stopped due to impaired metabolic control. No significant side-effects during the treatment were reported. Conclusions: Double therapy with insulin and GH is uncommonly performed in pediatric patients. Despite a higher insulin requirement, metabolic control in patients with T1DM was not impaired significantly by the simultaneous treatment. Our data suggest that GH is not an absolute contraindication for treatment of children with T1DM and growth disorders.

Published
2012

49. Minimal Incidence of neonatal /infancy onset diabetes in Italy is 1:90000 live births

Author

Iafusco D, Massa O, Pasquino B, Colombo C, Iughetti L, Bizzarri C, Mammi C, Lo Presti D, Suprani T, Schiaffini R, Nichols CG, Russo L, Grasso V, Meschi F, Bonfanti R, Brescianini S, Barbetti F., Iafusco, D, Massa, O, Pasquino, B, Colombo, C, Iughetti, L, Bizzarri, C, Mammi, C, Lo Presti, D, Suprani, T, Schiaffini, R, Nichols, Cg, Russo, L, Grasso, V, Meschi, F, Bonfanti, R, Brescianini, S, and Barbetti, F.

Published
2011

50. Cushing’s Syndrome in a 6-month-old Boy: A Rare Side-effect due to Inadequate use of Topical Corticosteroids

Author

Cappa M, Bizzarri C, Ciccone S, El Hachem M, and Romana Marini

Subjects
Male, Hypothalamo-Hypophyseal System, Pediatrics, medicine.medical_specialty, Hydrocortisone, Side effect, Treatment outcome, MEDLINE, Pituitary-Adrenal System, 030209 endocrinology & metabolism, Dermatology, Administration, Cutaneous, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Adrenal Cortex Hormones, Humans, Medicine, Cushing Syndrome, Betamethasone Valerate, S syndrome, business.industry, Infant, General Medicine, Treatment Outcome, business
Published
2016
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