49 results on '"Krzisnik, C."'
Search Results
2. Thriving of Malnourished Breastfed Infants after Additional Formula Milk Feeding
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Mis, N. Fidler, Hren, I., Brecelj, J., Čampa, A. Širca, Sedmak, M., Kržišnik, C., Koletzko, B., Back, Nathan, editor, Cohen, Irun R., editor, Kritchevsky, David, editor, Lajtha, Abel, editor, Paoletti, Rodolfo, editor, Koletzko, Berthold, editor, Dodds, Peter, editor, Akerblom, Hans, editor, and Ashwell, Margaret, editor
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- 2005
- Full Text
- View/download PDF
3. Variation by age group and seasonally at diagnosis of childhood IDDM in Europe
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Lévy-Marchal, C., Patterson, C., Green, A., Schober, E., Ullreich, G., Vandewalle, C., Svendsen, A., Lounamaa, R., Tuomilehto, J., Åkerblom, H. K., Czernichow, P., Levy-Marchal, C., de Beaufort, C., Doutreix, J., Voirin, J., Bartsocas, C. S., Dakou-Voutetakis, C., Pantelakis, S., Theodoridis, H., Kassiou, K., Kyriakou, P., Kyriakou, A., Papazoglou, N., Manes, C. H., Papadeli, E., Scaragas, G., Gotsis, N., Soltesz, G., Laron, Z., Gordon, O., Shohat, T., Chiumello, G., Bognetti, E., Meschi, F., Malavasi, C., Balzano, E., Pozzilli, P., Visalli, N., Suppa, A., Guglielmi, A., Sebastiani, M. L., Songini, M., Loche, M., Silvetti, M., Angius, E., Purrello, F., Arpi, M., Italia, S., Tomaselli, L., Mancuso, M., Michel, G., Wirion, R., Reeser, M., Joner, G., Sovik, R. O., Woznicka, D., Walczak, M., Woznicki, G., Stankiewicz, W., Kedzia, A., Szybinski, Z., Czyzyk, A., Wasik, R., Abreu, S., Menezes, C., Pina, E., Ionescu-Tirgoviste, C., Dragomirescu, C., Nicolau, A., Krzisnik, C., Battelino, T., Bratanic, N., Goday, A., Castell, C., Tresserras, R., Taberner, J. L., Lloveras, G., Hadden, D., Patterson, C., Carson, D., and Bingley, P.
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- 1995
- Full Text
- View/download PDF
4. Frequency of Hashimoto's thyroiditis in children with type 1 diabetes mellitus
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Radetti, G., Paganini, C., Gentili, L., Bernasconi, S., Betterle, C., Borkenstein, M., Cvijovic, K., Kadrnka-Lovrencic, M., Krzisnik, C., Battelino, T., Lorini, R., Marinoni, S., Rigon, F., Tatò, L., Pinelli, L., and Tonini, G.
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- 1995
- Full Text
- View/download PDF
5. Insulin pump therapy enables better metabolic control in patients with type I diabetes with eating disorders: 022
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Bratanic, N. B., Ursic Bratina, N. U. B., Radobuljac, M. R., Krzisnik, C. K., and Battelino, T. B.
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- 2006
6. Similar incidence of type 1 diabetes in two ethnically different populations (Italy and Slovenia) is sustained by similar HLA susceptible/protective haplotype frequencies
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Petrone, A., Battelino, T., Krzisnik, C., Bugawan, T., Erlich, H., Di Mario, U., Pozzilli, P., and Buzzetti, R.
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- 2002
7. Incidence and trends of childhood Type 1 diabetes worldwide 1990–1999
- Author
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THE DIAMOND PROJECT GROUP, BESSAOUD K, BOUDRAA G, DE ROPOLO MM, DE SEREDAY M, MARTI ML, MOSER M, LAPERTOSA S, DAMIANO M, VERGE C, HOWARD N, SCHOBER E, JORDAN O, WEETS I, GORUS F, COECKELBERGHS M, ROOMAN R, VAN GAAL L, FRANCO LJ, FERREIRA SRG, LISBOA HPK, KURTZ LA, GRAEBIN R, KUTZKE L, RODRIGES C, SAVOVA R, CHRISTOV V, IOTOVA V, TZANEVA V, PACAUD D, TOTH E, TAN MH, CARRASCO E, PEREZ F, ZE Y, BO Y, CHEN S, FU L, DENG L, SHEN S, TENG K, WANG C, JIAN H, JU J, YAN C, DENG Y, LI C, ZHANG Y, LIU Y, LONG X, ZHEN Z, SUN Z, WANG B, WONG G, ORREGO OV, ASCHNER P, DIAZ DIAZ O, DE ACOSTA OM, CINEK O, VAVRINEC J, OLSEN BS, SVENDSEN AJ, KREUTZFELDT J, LUND E, TULL ES, SELMAN GEARA A, ALMONTE AS, PODAR T, TUOMILEHTO J, KARVONEN M, NOTKOLA IL, MOLTCHANOVA E, TASKINEN O, LEVY MARCHAL C, CZERNICHOW P, KOCAVA M, NEU A, EHEHALT S, ROSENBAUER J, GIANI G, ICKS A, BARTSOCAS C, VAZEOU A, SOLTESZ G, LARON Z, GORDON O, ALBAG Y, SHAMIS I, PURRELLO F, ARPI M, FICHERA G, MANCUSO M, LUCENTI C, CHIUMELLO G, BRUNO G, PAGANO G, SONGINI M, CASU A, MARINARO A, FRONGIA P, ZEDDA MA, MILIA A, TENCONI MT, POZZILLI P, VISALLI N, SEBASTIANI L, MARIETTI G, BUZZETTI R, CHERUBINI V, OKUNO A, HARADA S, MATSUURA N, MIKI E, MIYAMOTO S, SASAKI N, MIMURA G, SHALTOUT A, QABAZRD M, AL KHAWARI M, BRIGIS G, DZIVITE I, KADIKI O, URBONAITE B, DE BEAUFORT C, GAREEBOO H, RUEDA OA, REESER M, ELLIOTT R, SCOTT R, WILLIS J, DARLOW B, JONER G, RAFIQUE G, JAWAD F, JIMENEZ J, PALACIOS CM, CANETE F, VERA J, ALMIRON R, BENITEZ GE, ESPINOLA CS, SECLEN S, WOZNICKA D, SZYBINSKI Z, PLACZKIEWICZ E, JAROSZ CHOBOT P, MENEZES C, PINA EA, RUAS MMA, RODRIGUES FJC, ABREU S, IONESCU TIRGOVISTE C, SHUBNIKOV E, MICHALKOVA D, BARK L, HLAVA P, MIKULECKY M, KRZISNIK C, BATTELINO T, URSIC NB, KOTNIK P, KO KW, CASTELL C, GODAY A, MAGZOUB M, DAHLQUIST G, SCHOENLE E, NAGATI K, KHALIFA FB, BURDEN A, RAYMOND N, MILLWARD BA, ZHAO H, PATTERSON CC, CARSON D, HADDEN D, SMAIL P, MCSPORRAN B, WAUGH N, BINGLEY P, MCKINNEY PA, FELTBOWER RG, BODANSKY HJ, CAMPBELL F, LAPORTE RE, LIBMAN I, ROSEMAN J, RAHMAN SMA, DE LLADO TF, LIPTON R, JORGE AM, GUNCZLER P, LANES R., DEVOTI, Gabriele, THE DIAMOND PROJECT, Group, Bessaoud, K, Boudraa, G, DE ROPOLO, Mm, DE SEREDAY, M, Marti, Ml, Moser, M, Lapertosa, S, Damiano, M, Verge, C, Howard, N, Schober, E, Jordan, O, Weets, I, Gorus, F, Coeckelberghs, M, Rooman, R, VAN GAAL, L, Franco, Lj, Ferreira, Srg, Lisboa, Hpk, Kurtz, La, Graebin, R, Kutzke, L, Rodriges, C, Savova, R, Christov, V, Iotova, V, Tzaneva, V, Pacaud, D, Toth, E, Tan, Mh, Carrasco, E, Perez, F, Ze, Y, Bo, Y, Chen, S, Fu, L, Deng, L, Shen, S, Teng, K, Wang, C, Jian, H, Ju, J, Yan, C, Deng, Y, Li, C, Zhang, Y, Liu, Y, Long, X, Zhen, Z, Sun, Z, Wang, B, Wong, G, Orrego, Ov, Aschner, P, DIAZ DIAZ, O, DE ACOSTA, Om, Cinek, O, Vavrinec, J, Olsen, B, Svendsen, Aj, Kreutzfeldt, J, Lund, E, Tull, E, SELMAN GEARA, A, Almonte, A, Podar, T, Tuomilehto, J, Karvonen, M, Notkola, Il, Moltchanova, E, Taskinen, O, LEVY MARCHAL, C, Czernichow, P, Kocava, M, Neu, A, Ehehalt, S, Rosenbauer, J, Giani, G, Icks, A, Bartsocas, C, Vazeou, A, Soltesz, G, Laron, Z, Gordon, O, Albag, Y, Shamis, I, Purrello, F, Arpi, M, Fichera, G, Mancuso, M, Lucenti, C, Chiumello, G, Bruno, G, Pagano, G, Songini, M, Casu, A, Marinaro, A, Frongia, P, Zedda, Ma, Milia, A, Tenconi, Mt, Devoti, Gabriele, Pozzilli, P, Visalli, N, Sebastiani, L, Marietti, G, Buzzetti, R, Cherubini, V, Okuno, A, Harada, S, Matsuura, N, Miki, E, Miyamoto, S, Sasaki, N, Mimura, G, Shaltout, A, Qabazrd, M, AL KHAWARI, M, Brigis, G, Dzivite, I, Kadiki, O, Urbonaite, B, DE BEAUFORT, C, Gareeboo, H, Rueda, Oa, Reeser, M, Elliott, R, Scott, R, Willis, J, Darlow, B, Joner, G, Rafique, G, Jawad, F, Jimenez, J, Palacios, Cm, Canete, F, Vera, J, Almiron, R, Benitez, Ge, Espinola, C, Seclen, S, Woznicka, D, Szybinski, Z, Placzkiewicz, E, JAROSZ CHOBOT, P, Menezes, C, Pina, Ea, Ruas, Mma, Rodrigues, Fjc, Abreu, S, IONESCU TIRGOVISTE, C, Shubnikov, E, Michalkova, D, Bark, L, Hlava, P, Mikulecky, M, Krzisnik, C, Battelino, T, Ursic, Nb, Kotnik, P, Ko, Kw, Castell, C, Goday, A, Magzoub, M, Dahlquist, G, Schoenle, E, Nagati, K, Khalifa, Fb, Burden, A, Raymond, N, Millward, Ba, Zhao, H, Patterson, Cc, Carson, D, Hadden, D, Smail, P, Mcsporran, B, Waugh, N, Bingley, P, Mckinney, Pa, Feltbower, Rg, Bodansky, Hj, Campbell, F, Laporte, Re, Libman, I, Roseman, J, Rahman, Sma, DE LLADO, Tf, Lipton, R, Jorge, Am, Gunczler, P, and Lanes, R.
- Subjects
Male ,Adolescent ,type 1 diabetes ,Incidence ,Endocrinology, Diabetes and Metabolism ,Infant, Newborn ,Infant ,Global Health ,World Health Organization ,trend ,Diabetes Mellitus, Type 1 ,Endocrinology ,Child, Preschool ,geographical distribution ,incidence ,Internal Medicine ,Humans ,epidemiology ,Female ,Child - Abstract
Aims. To examine incidence and trends of Type 1 diabetes worldwide for the period 1990–1999. Methods. The incidence of Type 1 diabetes (per 100000/year) was analysed in children aged ≤ 14 years from 114 populations in 112 centres in 57 countries. Trends in the incidence of Type 1 diabetes were analysed by fitting Poisson regression models to the dataset. Results. A total of 43013 cases were diagnosed in the study populations of 84 million children. The age-adjusted incidence of Type 1 diabetes among 112 centres (114 populations) varied from 0.1 per 100000/year in China and Venezuela to 40.9 per 100000/year in Finland. The average annual increase in incidence calculated from 103 centres was 2.8% (95% CI 2.4–3.2%). During the years 1990–1994, this increase was 2.4% (95% CI 1.3–3.4%) and during the second study period of 1995–1999 it was slightly higher at 3.4% (95% CI 2.7– 4.3%). The trends estimated for continents showed statistically significant increases all over the world (4.0% in Asia, 3.2% in Europe and 5.3% in North America), except in Central America and the West Indies where the trend was a decrease of 3.6%. Only among the European populations did the trend in incidence diminish with age. Conclusions. The rising incidence of Type 1 diabetes globally suggests the need for continuous monitoring of incidence by using standardized methods in order to plan or assess prevention strategies.
- Published
- 2006
8. Incidence of Childhood Type 1 Diabetes Worlwide
- Author
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KARVONEN M, VIIK KAJANDER M, MOLTCHANOVA E, LIBMAN I, LAPORTE R, TUOMILEHTO J, THE DIABETES MONDIALE DIAMOND PROJECT GROUP, BESSAOUD K, BOUDRAA G, DE ROPOLO MM, DE SEREDAY M, MARTI ML, MOSER M, LAPERTOSA S, DAMIANO M, VERGE C, HOWARD N, SCHOBER E, JORDAN O, WEETS I, GORUS F, COECKELBERGHS M, ROOMAN R, VAN GAAL L, FRANCO LJ, FERREIRA SRG, LISBOA HPK, KURTZ LA, GRAEBIN R, KUTZKE L, RODRIGES C, SAVOVA R, CHRISTOV V, IOTOVA V, TZANEVA V, PACAUD D, TOTH E, TAN MH, CARRASCO E, PEREZ F, ZE Y, BO Y, CHEN S, FU L, DENG L, SHEN S, TENG K, WANG C, JIAN H, JU J, YAN C, DENG Y, LI C, ZHANG Y, LIU Y, LONG X, ZHEN Z, SUN Z, WANG B, WONG G, ORREGO OV, ASCHNER P, DIAZ DIAZ O, DE ACOSTA OM, CINEK O, VAVRINEC J, OLSEN BS, SVENDSEN AJ, KREUTZFELDT J, LUND E, TULL ES, SELMAN GEARA A, ALMONTE AS, PODAR T, NOTKOLA IL, TASKINEN O, LEVY MARCHAL C, CZERNICHOW P, KOCAVA M, NEU A, EHEHALT S, ROSENBAUER J, GIANI G, ICKS A, BARTSOCAS C, VAZEOU A, SOLTESZ G, LARON Z, GORDON O, ALBAG Y, SHAMIS I, PURRELLO F, ARPI M, FICHERA G, MANCUSO M, LUCENTI C, CHIUMELLO G, BRUNO G, PAGANO G, SONGINI M, CASU A, MARINARO A, FRONGIA P, ZEDDA MA, MILIA A, TENCONI MT, POZZILLI P, VISALLI N, SEBASTIANI L, MARIETTI G, BUZZETTI R, CHERUBINI V, OKUNO A, HARADA S, MATSUURA N, MIKI E, MIYAMOTO S, SASAKI N, MIMURA G, SHALTOUT A, AL KHAWARI M, BRIGIS G, DZIVITE I, KADIKI O, URBONAITE B, DE BEAUFORT C, GAREEBOO H, RUEDA OA, REESER M, ELLIOTT R, SCOTT R, WILLIS J, DARLOW B, JONER G, RAFIQUE G, JIMENEZ J, PALACIOS CM, CANETE F, VERA J, ALMIRON R, BENITEZ GE, ESPINOLA CS, SECLEN S, WOZNICKA D, SZYBINSKI Z, PLACZKIEWICZ E, RUAS MMA, RODRIGUES FJC, ABREU S, IONESCU TIRGOVISTE C, SHUBNIKOV E, MICHALKOVA D, BARK L, HLAVA P, MIKULECKY M, KRZISNIK C, BATTELINO T, URSIC NB, KOTNIK P, KO KW, CASTELL C, DAHLQUIST G, SCHOENLE E, NAGATI K, KHALIFA FB, BURDEN A, RAYMOND N, MILLWARD BA, ZHAO H, PATTERSON CC, CARSON D, HADDEN D, SMAIL P, MCSPORRAN B, WAUGH N, BINGLEY P, MCKINNEY PA, FELTBOWER RG, BODANSKY HJ, CAMPBELL F, ROSEMAN J., DEVOTI, Gabriele, Karvonen, M, VIIK KAJANDER, M, Moltchanova, E, Libman, I, Laporte, R, Tuomilehto, J, THE DIABETES MONDIALE DIAMOND PROJECT, Group, Bessaoud, K, Boudraa, G, DE ROPOLO, Mm, DE SEREDAY, M, Marti, Ml, Moser, M, Lapertosa, S, Damiano, M, Verge, C, Howard, N, Schober, E, Jordan, O, Weets, I, Gorus, F, Coeckelberghs, M, Rooman, R, VAN GAAL, L, Franco, Lj, Ferreira, Srg, Lisboa, Hpk, Kurtz, La, Graebin, R, Kutzke, L, Rodriges, C, Savova, R, Christov, V, Iotova, V, Tzaneva, V, Pacaud, D, Toth, E, Tan, Mh, Carrasco, E, Perez, F, Ze, Y, Bo, Y, Chen, S, Fu, L, Deng, L, Shen, S, Teng, K, Wang, C, Jian, H, Ju, J, Yan, C, Deng, Y, Li, C, Zhang, Y, Liu, Y, Long, X, Zhen, Z, Sun, Z, Wang, B, Wong, G, Orrego, Ov, Aschner, P, DIAZ DIAZ, O, DE ACOSTA, Om, Cinek, O, Vavrinec, J, Olsen, B, Svendsen, Aj, Kreutzfeldt, J, Lund, E, Tull, E, SELMAN GEARA, A, Almonte, A, Podar, T, Notkola, Il, Taskinen, O, LEVY MARCHAL, C, Czernichow, P, Kocava, M, Neu, A, Ehehalt, S, Rosenbauer, J, Giani, G, Icks, A, Bartsocas, C, Vazeou, A, Soltesz, G, Laron, Z, Gordon, O, Albag, Y, Shamis, I, Purrello, F, Arpi, M, Fichera, G, Mancuso, M, Lucenti, C, Chiumello, G, Bruno, G, Pagano, G, Songini, M, Casu, A, Marinaro, A, Frongia, P, Zedda, Ma, Milia, A, Tenconi, Mt, Devoti, Gabriele, Pozzilli, P, Visalli, N, Sebastiani, L, Marietti, G, Buzzetti, R, Cherubini, V, Okuno, A, Harada, S, Matsuura, N, Miki, E, Miyamoto, S, Sasaki, N, Mimura, G, Shaltout, A, AL KHAWARI, M, Brigis, G, Dzivite, I, Kadiki, O, Urbonaite, B, DE BEAUFORT, C, Gareeboo, H, Rueda, Oa, Reeser, M, Elliott, R, Scott, R, Willis, J, Darlow, B, Joner, G, Rafique, G, Jimenez, J, Palacios, Cm, Canete, F, Vera, J, Almiron, R, Benitez, Ge, Espinola, C, Seclen, S, Woznicka, D, Szybinski, Z, Placzkiewicz, E, Ruas, Mma, Rodrigues, Fjc, Abreu, S, IONESCU TIRGOVISTE, C, Shubnikov, E, Michalkova, D, Bark, L, Hlava, P, Mikulecky, M, Krzisnik, C, Battelino, T, Ursic, Nb, Kotnik, P, Ko, Kw, Castell, C, Dahlquist, G, Schoenle, E, Nagati, K, Khalifa, Fb, Burden, A, Raymond, N, Millward, Ba, Zhao, H, Patterson, Cc, Carson, D, Hadden, D, Smail, P, Mcsporran, B, Waugh, N, Bingley, P, Mckinney, Pa, Feltbower, Rg, Bodansky, Hj, Campbell, F, and Roseman, J.
- Published
- 2000
9. Familial insulin-dependent diabetes mellitus (IDDM) epidemiology: standardization of data for the DIAMOND Project
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WHO MULTINATIONAL PROJECT FOR CHILDHOOD DIABETES GROUP, DORMAN JS, BESSAOUD K, DE SEREDAY M, MARTI ML, SCHOBER E, FRANCO LJ, NEGRATO C, RUSSO E, SCHMIDT M, VIVOLO M, COLLE E, SCHIFFRIN A, SIEMIATYCKI J, TAN MH, WORNELL C, CARRASCO E, LOPEZ G, GARCIAS DE LOS RIOS M, MATEO DE ACOSTA O, DIAZ DIAZ O, VERA M, NOROT T, URIATE A, SELMAN GEARA A, HASHEM N, SHAWKI R, EID S, TAHA S, REUNANEN A, TUOMILEHTO J, TUOMILEHTO WOLF E, BOEHM B, ROSAK C, SCHMIDT K, SOLTESZ G, HUNGARIAN CHILDHOOD DIABETES EPIDEMIOLOGY STUDY GROUP, RAMACHANDRAN A, MOHAN V, SNEHALATHA C, VISWANATHAN M, VERMA NPS, GOEL A, MUNTONI S, MASILE P, SILVETTI M, SONGINI M, TRONCI P, CHIARELLI F, CHIUMELLO G, MESCHI F, BOGNETTI E, TENCONI M, MARTINETTI M, LORINI R, SEVERI F, POZZILLI P, BOCCUNI M, BUZZETTI R, SEBASTIANI L, VISALLI N, PAGANO G, BRUNO G, MERLETTI F, PISU E, MATSUURA N, FUJIEDA K, OKUNO A, OOYANAGI K, YANO K, MIMURA G, FUTENMA H, HIGA S, MURAKAMI K, NAGAYOSHI M, KHOGALI M, ABDELLA N, GUMAA K, SHALTOUT A, ELLIOTT R, SCOTT R, JONER G, SOVIK O, JIMENEZ J, PALACIOS C, CANETE F, VERA J, ALMIRON R, REWERS M, FICHNA P, WALCZAK M, JOZWIAK M, WOZNICKA D, IONESCU TIRGOVISTE C, CHETA D, GODAY A, CASTELL C, GOMIS R, LLOVERAS G, SERRANO RIOS M, ELAMIN A, ELTAYEB K, OMER M, ZEIN K, DAHLQVIST G, BURDEN A, BODDIGTON M, BURDEN M, SHEERA S, PATTERSON C, HADDEN D, ROSEMAN J, ACTON R, GO R, WAGENKNECHT L, HAMMAN R, KOSTRABA J, MALONE J, LEAVERTON P, SCHOCKEN D, HODGE T, LIPTON R, BALLARD D, PALUMBO P, BROSSEAU J, SUMBURERU D, LAPORTE R, MOY C, TRUCCO M, FRAZER DE LLADO T, PODAR T, ADOJAAN B, KALITS I, GRABAUSKAS V, NORKUS A, PADAIGA Z, PREIKSA R, URBONAITE B, SHUBNIKOV E, KALASHNIKOVA L, KRZISNIK C, KING H., DEVOTI, Gabriele, WHO MULTINATIONAL PROJECT FOR CHILDHOOD DIABETES, Group, Dorman, J, Bessaoud, K, DE SEREDAY, M, Marti, Ml, Schober, E, Franco, Lj, Negrato, C, Russo, E, Schmidt, M, Vivolo, M, Colle, E, Schiffrin, A, Siemiatycki, J, Tan, Mh, Wornell, C, Carrasco, E, Lopez, G, GARCIAS DE LOS RIOS, M, MATEO DE ACOSTA, O, DIAZ DIAZ, O, Vera, M, Norot, T, Uriate, A, SELMAN GEARA, A, Hashem, N, Shawki, R, Eid, S, Taha, S, Reunanen, A, Tuomilehto, J, TUOMILEHTO WOLF, E, Boehm, B, Rosak, C, Schmidt, K, Soltesz, G, HUNGARIAN CHILDHOOD DIABETES EPIDEMIOLOGY STUDY, Group, Ramachandran, A, Mohan, V, Snehalatha, C, Viswanathan, M, Verma, Np, Goel, A, Muntoni, S, Masile, P, Silvetti, M, Songini, M, Tronci, P, Chiarelli, F, Chiumello, G, Meschi, F, Bognetti, E, Tenconi, M, Devoti, Gabriele, Martinetti, M, Lorini, R, Severi, F, Pozzilli, P, Boccuni, M, Buzzetti, R, Sebastiani, L, Visalli, N, Pagano, G, Bruno, G, Merletti, F, Pisu, E, Matsuura, N, Fujieda, K, Okuno, A, Ooyanagi, K, Yano, K, Mimura, G, Futenma, H, Higa, S, Murakami, K, Nagayoshi, M, Khogali, M, Abdella, N, Gumaa, K, Shaltout, A, Elliott, R, Scott, R, Joner, G, Sovik, O, Jimenez, J, Palacios, C, Canete, F, Vera, J, Almiron, R, Rewers, M, Fichna, P, Walczak, M, Jozwiak, M, Woznicka, D, IONESCU TIRGOVISTE, C, Cheta, D, Goday, A, Castell, C, Gomis, R, Lloveras, G, SERRANO RIOS, M, Elamin, A, Eltayeb, K, Omer, M, Zein, K, Dahlqvist, G, Burden, A, Boddigton, M, Burden, M, Sheera, S, Patterson, C, Hadden, D, Roseman, J, Acton, R, Go, R, Wagenknecht, L, Hamman, R, Kostraba, J, Malone, J, Leaverton, P, Schocken, D, Hodge, T, Lipton, R, Ballard, D, Palumbo, P, Brosseau, J, Sumbureru, D, Laporte, R, Moy, C, Trucco, M, FRAZER DE LLADO, T, Podar, T, Adojaan, B, Kalits, I, Grabauskas, V, Norkus, A, Padaiga, Z, Preiksa, R, Urbonaite, B, Shubnikov, E, Kalashnikova, L, Krzisnik, C, and King, H.
- Published
- 1991
10. Trends in childhood type 1 diabetes incidence in Europe during 1989-2008: evidence of non-uniformity over time in rates of increase
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Patterson, C.C., Gyürüs, E., Rosenbauer, J., Cinek, O., Neu, A., Schober, E., Parslow, R. C., Joner, G., Svensson, J., Castell, C., Bingley, P.J., Schoenle, E., Jarosz-Chobot, Urbonaité, B., Rothe, U., Krzisnik, C., Ionescu-Tirgoviste, C., Weets, I., Kocova, M., Stipancic, G., Samardzic, M., De Beaufort, Carine, Green, A., Dahlquist, G.G., Soltész, G., Patterson, C.C., Gyürüs, E., Rosenbauer, J., Cinek, O., Neu, A., Schober, E., Parslow, R. C., Joner, G., Svensson, J., Castell, C., Bingley, P.J., Schoenle, E., Jarosz-Chobot, Urbonaité, B., Rothe, U., Krzisnik, C., Ionescu-Tirgoviste, C., Weets, I., Kocova, M., Stipancic, G., Samardzic, M., De Beaufort, Carine, Green, A., Dahlquist, G.G., and Soltész, G.
- Abstract
Aims/hypothesis The aim of the study was to describe 20- year incidence trends for childhood type 1 diabetes in 23 EURODIAB centres and compare rates of increase in the first (1989–1998) and second (1999–2008) halves of the period. Methods All registers operate in geographically defined regions and are based on a clinical diagnosis. Completeness of registration is assessed by capture–recapture methodology. Twenty-three centres in 19 countries registered 49,969 new cases of type 1 diabetes in individuals diagnosed before their 15th birthday during the period studied. Results Ascertainment exceeded 90% in most registers. During the 20-year period, all but one register showed statistically significant changes in incidence, with rates universally increasing. When estimated separately for the first and second halves of the period, the median rates of increase were similar: 3.4% per annum and 3.3% per annum, respectively. However, rates of increase differed significantly between the first half and the second half for nine of the 21 registers with adequate coverage of both periods; five registers showed significantly higher rates of increase in the first half, and four significantly higher rates in the second half. Conclusions/interpretation The incidence rate of childhood type 1 diabetes continues to rise across Europe by an average of approximately 3–4% per annum, but the increase is not necessarily uniform, showing periods of less rapid and more rapid increase in incidence in some registers. This pattern of change suggests that important risk exposures differ over time in different European countries. Further time trend analysis and comparison of the patterns in defined regions is warranted.
- Published
- 2012
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11. WHO Multinational Project for Childhood Diabetes
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WHO DIAMOND PROJECT GROUP, LAPORTE R. E, TUOMILEHTO J, KING H, BESSAOUD K, BOUDRAA G, ZIMMET P, DE SEREDAY M, MARTI ML, MOSER M, LAPERTOSA S, DAMIANO M, VERGE C, HOWARD N, SCHOBER E, JORDAN O, WEETS I, GORUS F, COECKELBERGHS M, ROOMAN R, VAN GAAL L, FRANCO LJ, FERREIRA SRG, LISBOA HPK, KURTZ LA, GRAEBIN R, KUTZKE L, RODRIGES C, SAVOVA R, CHRISTOV V, IOTOVA V, TZANEVA V, PACAUD D, TOTH E, TAN MH, CARRASCO E, PEREZ F, ZE Y, BO Y, CHEN S, FU L, DENG L, SHEN S, TENG K, WANG C, JIAN H, JU J, YAN C, DENG Y, LI C, ZHANG Y, LIU Y, LONG X, ZHEN Z, SUN Z, WANG B, WONG G, ORREGO OV, ASCHNER P, DIAZ DIAZ O, DE ACOSTA OM, CINEK O, VAVRINEC J, OLSEN BS, SVENDSEN AJ, KREUTZFELDT J, LUND E, TULL ES, SELMAN GEARA A, ALMONTE AS, PODAR T, KARVONEN M, NOTKOLA IL, MOLTCHANOVA E, TASKINEN O, LEVY MARCHAL C, CZERNICHOW P, KOCAVA M, NEU A, EHEHALT S, ROSENBAUER J, GIANI G, ICKS A, BARTSOCAS C, VAZEOU A, SOLTESZ G, LARON Z, GORDON O, ALBAG Y, SHAMIS I, PURRELLO F, ARPI M, FICHERA G, MANCUSO M, LUCENTI C, CHIUMELLO G, BRUNO G, PAGANO G, SONGINI M, CASU A, MARINARO A, FRONGIA P, ZEDDA MA, MILIA A, TENCONI MT, POZZILLI P, VISALLI N, SEBASTIANI L, MARIETTI G, BUZZETTI R, CHERUBINI V, OKUNO A, HARADA S, MATSUURA N, MIKI E, MIYAMOTO S, SASAKI N, MIMURA G, SHALTOUT A, QABAZRD M, AL KHAWARI M, BRIGIS G, DZIVITE I, KADIKI O, URBONAITE B, DE BEAUFORT C, GAREEBOO H, RUEDA OA, REESER M, ELLIOTT R, SCOTT R, WILLIS J, DARLOW B, JONER G, RAFIQUE G, JAWAD F, JIMENEZ J, PALACIOS CM, CANETE F, VERA J, ALMIRON R, BENITEZ GE, ESPINOLA CS, SECLEN S, WOZNICKA D, SZYBINSKI Z, PLACZKIEWICZ E, JAROSZ CHOBOT P, MENEZES C, PINA EA, RUAS MMA, RODRIGUES FJC, ABREU S, IONESCU TIRGOVISTE C, SHUBNIKOV E, MICHALKOVA D, BARK L, HLAVA P, MIKULECKY M, KRZISNIK C, BATTELINO T, URSIC NB, KOTNIK P, KO KW, CASTELL C, GODAY A, MAGZOUB M, DAHLQUIST G, SCHOENLE E, NAGATI K, KHALIFA FB, BURDEN A, RAYMOND N, MILLWARD BA, ZHAO H, PATTERSON CC, CARSON D, HADDEN D, SMAIL P, MCSPORRAN B, WAUGH N, BINGLEY P, MCKINNEY PA, FELTBOWER RG, BODANSKY HJ, CAMPBELL F, LAPORTE RE, LIBMAN I, ROSEMAN J, RAHMAN SMA, DE LLADO TF, LIPTON R, JORGE AM, GUNCZLER P, LANES R., DEVOTI, Gabriele, WHO DIAMOND PROJECT, Group, LAPORTE R., E, Tuomilehto, J, King, H, Bessaoud, K, Boudraa, G, Zimmet, P, DE SEREDAY, M, Marti, Ml, Moser, M, Lapertosa, S, Damiano, M, Verge, C, Howard, N, Schober, E, Jordan, O, Weets, I, Gorus, F, Coeckelberghs, M, Rooman, R, VAN GAAL, L, Franco, Lj, Ferreira, Srg, Lisboa, Hpk, Kurtz, La, Graebin, R, Kutzke, L, Rodriges, C, Savova, R, Christov, V, Iotova, V, Tzaneva, V, Pacaud, D, Toth, E, Tan, Mh, Carrasco, E, Perez, F, Ze, Y, Bo, Y, Chen, S, Fu, L, Deng, L, Shen, S, Teng, K, Wang, C, Jian, H, Ju, J, Yan, C, Deng, Y, Li, C, Zhang, Y, Liu, Y, Long, X, Zhen, Z, Sun, Z, Wang, B, Wong, G, Orrego, Ov, Aschner, P, DIAZ DIAZ, O, DE ACOSTA, Om, Cinek, O, Vavrinec, J, Olsen, B, Svendsen, Aj, Kreutzfeldt, J, Lund, E, Tull, E, SELMAN GEARA, A, Almonte, A, Podar, T, Karvonen, M, Notkola, Il, Moltchanova, E, Taskinen, O, LEVY MARCHAL, C, Czernichow, P, Kocava, M, Neu, A, Ehehalt, S, Rosenbauer, J, Giani, G, Icks, A, Bartsocas, C, Vazeou, A, Soltesz, G, Laron, Z, Gordon, O, Albag, Y, Shamis, I, Purrello, F, Arpi, M, Fichera, G, Mancuso, M, Lucenti, C, Chiumello, G, Bruno, G, Pagano, G, Songini, M, Casu, A, Marinaro, A, Frongia, P, Zedda, Ma, Milia, A, Tenconi, Mt, Devoti, Gabriele, Pozzilli, P, Visalli, N, Sebastiani, L, Marietti, G, Buzzetti, R, Cherubini, V, Okuno, A, Harada, S, Matsuura, N, Miki, E, Miyamoto, S, Sasaki, N, Mimura, G, Shaltout, A, Qabazrd, M, AL KHAWARI, M, Brigis, G, Dzivite, I, Kadiki, O, Urbonaite, B, DE BEAUFORT, C, Gareeboo, H, Rueda, Oa, Reeser, M, Elliott, R, Scott, R, Willis, J, Darlow, B, Joner, G, Rafique, G, Jawad, F, Jimenez, J, Palacios, Cm, Canete, F, Vera, J, Almiron, R, Benitez, Ge, Espinola, C, Seclen, S, Woznicka, D, Szybinski, Z, Placzkiewicz, E, JAROSZ CHOBOT, P, Menezes, C, Pina, Ea, Ruas, Mma, Rodrigues, Fjc, Abreu, S, IONESCU TIRGOVISTE, C, Shubnikov, E, Michalkova, D, Bark, L, Hlava, P, Mikulecky, M, Krzisnik, C, Battelino, T, Ursic, Nb, Kotnik, P, Ko, Kw, Castell, C, Goday, A, Magzoub, M, Dahlquist, G, Schoenle, E, Nagati, K, Khalifa, Fb, Burden, A, Raymond, N, Millward, Ba, Zhao, H, Patterson, Cc, Carson, D, Hadden, D, Smail, P, Mcsporran, B, Waugh, N, Bingley, P, Mckinney, Pa, Feltbower, Rg, Bodansky, Hj, Campbell, F, Laporte, Re, Libman, I, Roseman, J, Rahman, Sma, DE LLADO, Tf, Lipton, R, Jorge, Am, Gunczler, P, and Lanes, R.
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- 1990
12. Frequency of Hashimoto’s thyroiditis in children with Type I diabetes mellitus
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Radetti, G., Bernasconi, S, Knezevic, J., Rigon, F., Cvijovic, K, Tonini, G., Krzisnik, C., Tatò, L., Paganini, C., Lorini, R., Marinoni, S., and Betterle, Corrado
- Published
- 1995
13. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease
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Dolzan, V, primary, Stopar-Obreza, M, additional, Zerjav-Tansek, M, additional, Breskvar, K, additional, Krzisnik, C, additional, and Battelino, T, additional
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- 2003
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14. Congenital Adrenal Hyperplasia: Lessons from a Multinational Study
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Frisch, H., primary, Waldhauser, F., additional, Lebl, J., additional, Solyom, J., additional, Hargitai, G., additional, Kovacs, J., additional, Pribilincova, Z., additional, Krzisnik, C., additional, and Battelino, T., additional
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- 2002
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15. The "Little People" of the Island of Krk - Revisited. Etiology of Hypopituitarism Revealed
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Krzisnik, C., primary, Kolacio, Z., additional, Battelino, T., additional, Brown, M., additional, Parks, J.S., additional, and Laron, Z., additional
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- 1999
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16. Five Year Treatment with IGF-I of a Patient with Laron Syndrome in Slovenia (a Follow-up Report)
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Krzisnik, C., primary and Battelino, T., additional
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- 1997
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17. Seasonality of Birth in Children (0-14 Years) with Type 1 Diabetes Mellitus in Slovenia.
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Ursic-Bratina, N., Battelino, T., Krzisnik, C., Laron-Kenet, T., Ashkenazi, I., and Laron, Z.
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- 2001
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18. Complete Response of Metastatic Adrenal Cortical Carcinoma to o,p'-DDD in a Child
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Krzisnik C, Petric G, and Jereb B
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Pathology ,medicine.medical_specialty ,business.industry ,Hematology ,equipment and supplies ,Adrenal Cortex Neoplasm ,medicine.disease ,Tomography x ray computed ,Oncology ,Pediatrics, Perinatology and Child Health ,medicine ,Carcinoma ,Mitotane ,Pediatric hematology ,business ,Complete response ,medicine.drug - Abstract
(1988). Complete Response of Metastatic Adrenal Cortical Carcinoma to o,p'-DDD in a Child. Pediatric Hematology and Oncology: Vol. 5, No. 1, pp. 65-69.
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- 1988
19. FAMILIAL INSULIN-DEPENDENT DIABETES-MELLITUS (IDDM) EPIDEMIOLOGY - STANDARDIZATION OF DATA FOR THE DIAMOND PROJECT
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Dorman, Js, Bessaoud, K., Desereday, M., Marti, M., Schober, E., Franco, L., Carlos Antonio Negrato, Russo, E., Schmidt, M., Vivolo, M., Colle, E., Schiffrin, A., Siemiatycki, J., Tan, Mh, Wornell, C., Carrasco, E., Lopez, G., Delosrios, Mg, Deacosta, Om, Diazdiaz, O., Vera, M., Norot, T., Uriate, A., Selmangeara, A., Hashem, N., Shawki, R., Eid, S., Taha, S., Reunanen, A., Tuomilehto, J., Tuomilehtowolf, E., Boehm, B., Rosak, C., Schmidt, K., Soltesz, G., Ramachandran, A., Mohan, V., Snehalatha, C., Viswanathan, M., Verma, Nps, Goel, A., Muntoni, S., Masile, P., Silvetti, M., Songini, M., Tronci, P., Chiarelli, F., Chiumello, G., Meschi, F., Bognetti, E., Tenconi, M., Devoti, G., Martinetti, M., Lorini, R., Severi, F., Pozzilli, P., Boccuni, M., Buzzetti, R., Sebastiani, L., Visalli, N., Pagano, G., Bruno, G., Merletti, F., Pisu, E., Matsuura, N., Fujieda, K., Okuno, A., Ooyanagi, K., Yano, K., Mimura, G., Futenma, H., Higa, S., Murakami, K., Nagayoshi, M., Khogali, M., Abdella, N., Gumaa, K., Shaltout, A., Elliott, R., Scott, R., Joner, G., Sovik, O., Jimenez, J., Palacios, C., Canete, F., Vera, J., Almiron, R., Rewers, M., Fichna, P., Walczak, M., Jozwiak, M., Woznicka, D., Ionescutirgoviste, C., Cheta, D., Goday, A., Castell, C., Gomis, R., Lloveras, G., Serranorios, M., Elamin, A., Eltayeb, K., Omer, M., Zein, K., Dahlqvist, G., Burden, A., Boddington, M., Burden, M., Sheera, S., Patterson, C., Hadden, D., Roseman, J., Acton, R., Go, R., Wagenknecht, L., Hamman, R., Kostraba, J., Malone, J., Leaverton, P., Schocken, D., Hodge, T., Lipton, R., Ballard, D., Palumbo, P., Brosseau, J., Sumbureru, D., Dorman, J., Laporte, R., Moy, C., Trucco, M., Dellado, Tf, Podar, T., Adojaan, B., Kalits, I., Grabauskas, V., Norkus, A., Padaiga, Z., Preiksa, R., Urbonaite, B., Shubnikov, E., Kalashnikova, L., Krzisnik, C., and King, H.
20. Testing for thyroid function recovery in children and adolescents with Hashimoto thyroiditis
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Tadej Battelino, Krzisnik C, Me, Gottschalk, and Wp, Zeller
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Male ,Thyroxine ,Treatment Outcome ,Adolescent ,Thyroiditis, Autoimmune ,Humans ,Reproducibility of Results ,Female ,Prospective Studies ,Thyroid Function Tests ,Child ,Thyrotropin-Releasing Hormone - Abstract
Thyroid function in children and adolescents with primary hypothyroidism owing to Hashimoto thyroiditis was studied to evaluate criteria for the discontinuation of thyroxine therapy. A cohort of 29 children and adolescents was prospectively studied for one year. A thyrotropin-releasing hormone stimulation test with measurements of basal and stimulated thyrotropin and thyroxine was performed at the beginning of the study and 6 and 12 months later. In 59 percent of patients, persistent biochemical evidence of hypothyroidism was observed. Interindividual variations and variations among measurements in individual patients were much greater than those reported for healthy individuals. In one patient, all measured values were consistently normal, and the therapy was successfully discontinued. No single measurement or test could predict the natural course of disease. In summary, children and adolescents with hypothyroidism owing to Hashimoto thyroiditis can not have discontinued replacement thyroxine therapy on the basis of any single evaluation of thyroid function, as proposed for adults. If the decision to discontinue the therapy in this age group is made on the basis of previous follow-up, a substantial possibility of relapse remains and continuous follow up is necessary.
21. The 42nd Annual ESPE Meeting, Ljubljana, 18-21 September 2003
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Avbelj, M., Tadej Battelino, and Krzisnik, C.
22. The use of continuous subcutaneous insulin infusion (CSII) as the treatment of choice in children and adolescents with type 1 diabetes
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Tadej Battelino, Ursic-Bratina N, Bratanic N, Zerjav-Tansek M, Avbelj M, and Krzisnik C
23. Cardiac damage after treatment of childhood cancer: a long-term follow-up.
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Velensek V, Mazic U, Krzisnik C, Demsar D, Jazbec J, Jereb B, Velensek, Veronika, Mazic, Uros, Krzisnik, Ciril, Demsar, Damjan, Jazbec, Janez, and Jereb, Berta
- Abstract
Background: With improved childhood cancer cure rate, long term sequelae are becoming an important factor of quality of life. Signs of cardiovascular disease are frequently found in long term survivors of cancer. Cardiac damage may be related to irradiation and chemotherapy.We have evaluated simultaneous influence of a series of independent variables on the late cardiac damage in childhood cancer survivors in Slovenia and identified groups at the highest risk.Methods: 211 long-term survivors of different childhood cancers, at least five years after treatment were included in the study. The evaluation included history, physical examination, electrocardiograpy, exercise testing and echocardiograpy. For analysis of risk factors, beside univariate analysis, multivariate classification tree analysis statistical method was used.Results and Conclusion: Patients treated latest, from 1989-98 are at highest risk for any injury to the heart (73%). Among those treated earlier are at the highest risk those with Hodgkin's disease treated with irradiation above 30 Gy and those treated for sarcoma. Among specific forms of injury, patients treated with radiation to the heart area are at highest risk of injury to the valves. Patients treated with large doses of anthracyclines or concomitantly with anthracyclines and alkylating agents are at highest risk of systolic function defect and enlarged heart chambers. Those treated with anthracyclines are at highest risk of diastolic function defect. The time period of the patient's treatment is emerged as an important risk factor for injury of the heart. [ABSTRACT FROM AUTHOR]- Published
- 2008
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24. Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.
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Dusatkova P, Pfäffle R, Brown MR, Akulevich N, Arnhold IJ, Kalina MA, Kot K, Krzisnik C, Lemos MC, Malikova J, Navardauskaite R, Obermannova B, Pribilincova Z, Sallai A, Stipancic G, Verkauskiene R, Cinek O, Blum WF, Parks JS, Austerlitz F, and Lebl J
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- Humans, Prevalence, Software, Genetic Predisposition to Disease, Haplotypes genetics, Homeodomain Proteins genetics, Hypopituitarism genetics, Mutation genetics
- Abstract
Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to analyze in detail the origin of the two most prevalent variants. In the multicentric study were included 237 patients with CPHD and their 15 relatives carrying c.[301_302delAG];[301_302delAG] or c.[150delA];[150delA] or c.[301_302delAG];[ 150delA]. They originated from 21 different countries worldwide. We genotyped 21 single-nucleotide variant markers flanking the 9.6-Mb region around the PROP1 gene that are not in mutual linkage disequilibrium in the general populations--a finding of a common haplotype would be indicative of ancestral origin of the variant. Haplotypes were reconstructed by Phase and Haploview software, and the variant age was estimated using an allelic association method. We demonstrated the ancestral origin of both variants--c.[301_302delAG] was carried on 0.2 Mb-long haplotype in a majority of European patients arising ~101 generations ago (confidence interval 90.1-116.4). Patients from the Iberian Peninsula displayed a different haplotype, which was estimated to have emerged 23.3 (20.1-29.1) generations ago. Subsequently, the data indicated that both the haplotypes were transmitted to Latin American patients ~13.8 (12.2-17.0) and 16.4 (14.4-20.1) generations ago, respectively. The c.[150delA] variant that was carried on a haplotype spanning about 0.3 Mb was estimated to appear 43.7 (38.4-52.7) generations ago. We present strong evidence that the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants.
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- 2016
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25. Longevity of the hypopituitary patients from the island Krk: a follow-up study.
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Krzisnik C, Grgurić S, Cvijović K, and Laron Z
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- Base Sequence, Croatia, Female, Follow-Up Studies, Frameshift Mutation, Homeodomain Proteins genetics, Humans, Hypopituitarism genetics, Longevity genetics, Male, Molecular Sequence Data, Pedigree, Homeodomain Proteins physiology, Hypopituitarism physiopathology, Longevity physiology, Pituitary Gland physiopathology
- Abstract
Patients with dwarfism on the Krk island in the Adriatic Sea have been known since 1864. Since then 25 related dwarfs (15 males and 10 females) originating from the villages Bascanska Draga and Jurandvor have been recorded. The last patient was born in 1996 and was diagnosed in 2004. In 1988 we were able to prove that the etiology of the hereditary multiple pituitary deficiencies (MPHD) causing the dwarfism is due to a PROP-1 gene mutation, a pituitary transcription factor. During visits in 1988, 1990 and 2007 data on the life span of these patients not treated by growth and sex hormone were collected. We found data for 9 patients (5 males and 4 females). One female died in an accident at age 61; 6 patients (3 males and 3 females) died between ages 68 and 91 due to cardiovascular disease. Two males died at ages 77 and 83, cause unknown. It is concluded that despite the long lasting GH and sex hormone deficiencies and irregular thyroid hormone ingestion, patients with congenital MPHD due to Prop-1 gene defects can live a long life.
- Published
- 2010
26. Lack of association of common allelic variants in the thyroglobulin gene with Hashimoto's thyroiditis in young subjects with type 1 diabetes.
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Kotnik P, Debeljak M, Avbelj M, Hovnik T, Ursic Bratina N, Krzisnik C, and Battelino T
- Subjects
- Alleles, Chi-Square Distribution, DNA chemistry, DNA genetics, Diabetes Mellitus, Type 1 immunology, Female, Genetic Variation, Hashimoto Disease immunology, Humans, Male, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Young Adult, Diabetes Mellitus, Type 1 complications, Diabetes Mellitus, Type 1 genetics, Hashimoto Disease complications, Hashimoto Disease genetics, Thyroglobulin genetics
- Abstract
Background/aim: Four SNPs (E10SNP24, E10SNP158, E12SNP, E33SNP) in the Tg gene are suspected to be involved in the development of autoimmune thyroid diseases. The aim of the study was to determine whether these variants play a role in the development of Hashimoto's thyroiditis in young subjects with type 1 diabetes, in whom autoimmune thyroid diseases are significantly more common than in the general population., Subjects and Methods: Seventy-six subjects with type 1 diabetes and Hashimoto's thyroiditis and 110 subjects with only type 1 diabetes were studied. Hashimoto's thyroiditis was determined according to the clinical, biochemical and ultrasonographic criteria. SNPs were determined by the TaqMan SNP method., Results: In young subjects with type 1 diabetes, no association between any of the tested SNPs or their combinations and Hashimoto's thyroiditis was found., Conclusions: This is the first study to investigate the association of SNPs located inside the coding region of the Tg gene with the development of Hashimoto's thyroiditis in subjects with type 1 diabetes. The lack of an association is in concordance with a study where marker Tgms2, located inside intron 27, was not associated with joint susceptibility for autoimmune thyroid disease and type 1 diabetes., (Copyright (c) 2010 S. Karger AG, Basel.)
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- 2010
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27. Adequate iodine intake of Slovenian adolescents is primarily attributed to excessive salt intake.
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Stimec M, Kobe H, Smole K, Kotnik P, Sirca-Campa A, Zupancic M, Battelino T, Krzisnik C, and Fidler Mis N
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- Adolescent, Cross-Sectional Studies, Diet Surveys, Female, Food Analysis, Food, Fortified statistics & numerical data, Humans, Iodine deficiency, Male, Malnutrition prevention & control, Nutrition Policy, Slovenia, Iodine administration & dosage, Nutritional Status, Sodium Chloride, Dietary administration & dosage
- Abstract
In Slovenia, table salt iodization has been applied to combat iodine deficiency. Recently, we found that Slovenian adolescents attained iodine sufficiency (median urinary iodine concentration was 140 microg/L; prevalence of goiter was <1%). National data indicate that salt intake of Slovenian population is too high (150% above the recommended limit); therefore, we hypothesized that sufficient iodine intake in adolescents can be primarily attributed to excessive salt intake. In a cross-sectional study, we investigated iodine and salt intake in Slovenian adolescents as well as the contributions of different foods to their intake. We determined the iodine and salt intake of a national representative sample of 2581 adolescents, aged 14 to 17 years, using the Food Frequency Questionnaire (FFQ). The FFQ covered habitual diets over the past year, and 2485 (96%) adolescents completed a valid FFQ (1370 girls, 1115 boys). The iodine intake was 189.7 +/- 2.6 microg/d (mean +/- standard error of mean), well above the recommended 150 microg/d (P < .001). Table salt was by far the biggest dietary source of iodine and sodium for both sexes. Total salt intake (mean +/- standard error of mean, 10.4 +/- 0.2 g/d) significantly exceeded the upper World Health Organization limit (<5 g/d, P < .001), especially in boys (11.5 +/- 0.3 vs 9.4 +/- 0.2 g/d in girls, P < .001). The main food sources of salt were table salt (33%), bread (24%), salty snack products (10%), meat products (8%), fish products (6%), and milk (4%). Salt intake from foods, excluding table salt, was 6.9 g/d (67% of total salt intake). We conclude that although Slovenian adolescents are iodine sufficient, their salt intake, especially among boys, is too high. Several nutritional interventions are proposed to reduce total salt intake while ensuring adequate iodine intake.
- Published
- 2009
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28. Effects of formula supplementation in breast-fed infants with failure to thrive.
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Hren I, Mis NF, Brecelj J, Campa AS, Sedmak M, Krzisnik C, and Koletzko B
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- Body Weight, Fatty Acids analysis, Female, Humans, Infant, Infant, Newborn, Male, Prospective Studies, Breast Feeding, Failure to Thrive therapy, Infant Formula chemistry
- Abstract
Background: The aim of the present study was to assess whether formula supplementation of infants with failure to thrive can improve underweight without jeopardizing breast-feeding., Methods: In a prospective intervention study 31 term exclusively breast-fed infants were studied, who were admitted to hospital at an age of 28-99 days with failure to thrive (< or =40% expected weight gain for age and/or bodyweight < or =10th percentile for age) without underlying disease. Infant formula was offered ad libitum after each breast-feeding, while continued breast-feeding was supported., Results: Energy intake per day increased from 352 +/- 111 kJ/kg (mean +/- SD) at study start to 587 +/- 115 kJ/kg (P < 0.001, days 1-3 of supplementation) and 501 +/- 99 kJ/kg (days 29-31; P < 0.001 vs study entry). Twenty-five infants continued to be partially (n = 21) or fully (n = 4) breast-fed. Human milk intake decreased from 476 +/- 163 g/day (study days 1-3) to 349 +/- 285 g/day (study days 29-31; P < 0.01). The contribution of breast milk to total milk intake decreased from 100% to 42 +/- 35% (P < 0.001). Supplementation over 31 days led to increased weight (0.98 [0.70], standard deviation scores [SDS]), length (+0.40 [0.41] SDS) and head circumference (+0.59 [0.93] SDS)., Conclusions: One month of formula supplementation successfully improved growth in 72% of infants with failure to thrive on human milk feeding. Breast-feeding was maintained in 81% of infants.
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- 2009
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29. High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
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Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, and Battelino T
- Subjects
- Adolescent, Adult, Amino Acid Sequence, Base Sequence, Child, Child, Preschool, Cohort Studies, DNA genetics, DNA Mutational Analysis methods, Humans, Molecular Sequence Data, Polymorphism, Restriction Fragment Length, Polymorphism, Single-Stranded Conformational, Promoter Regions, Genetic, Sequence Analysis, DNA, Thyroglobulin blood, Thyroid Dysgenesis blood, Thyrotropin blood, Thyroxine blood, Iodide Peroxidase genetics, Thyroid Dysgenesis enzymology, Thyroid Dysgenesis genetics
- Abstract
Objective: Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism (CH). Thyroid peroxidase gene (TPO) mutations are one of the most common causes of thyroid dyshormonogenesis. The aim of this study was to identify TPO gene defects in a cohort of patients with thyroid dyshormonogenesis from Slovenia, Bosnia, and Slovakia., Design and Methods: Forty-three patients with permanent CH and orthoptic thyroid glands from 39 unrelated families participated in the study. Mutational analysis of the TPO gene and part of its promoter consisted of single-stranded conformation polymorphism analysis, sequencing, and restriction fragment length polymorphism (RFLP) analysis., Results: TPO gene mutations were identified in 46% of participants. Seven different mutations were identified, four mutations of these being novel, namely 613C > T (R175X), 1519_1539del (A477_N483del), 2089G > A (G667S), and 2669G > A (G860R). Only a single allele mutation was identified in 65% of the TPO mutation carriers., Conclusions: The results showed a higher prevalence of TPO gene mutations in thyroid dyshormonogenesis when compared with published studies. The high percentage of single allele mutations implied possible intronic or regulatory TPO gene mutations or monoallelic expression.
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- 2007
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30. Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.
- Author
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Kotnik P, Battelino T, Debeljak M, Podkrajsek KT, Waldhauser F, Frøkiaer J, Nielsen S, and Krzisnik C
- Subjects
- Adolescent, Adult, Child, Preschool, Dehydration genetics, Genotype, Humans, Phenotype, Aquaporin 2 urine, Diabetes Insipidus, Nephrogenic genetics, Diabetes Insipidus, Nephrogenic urine, Mutation, Receptors, Vasopressin genetics
- Abstract
Activation of the V2 receptor by arginine vasopressin (AVP) results in trafficking of the water channel AQP2 to the luminal plasma membrane and a small amount into the urine. Mutations in the A VPR2 gene, encoding the AVP V2 receptor, result in congenital nephrogenic diabetes insipidus (CNDI). To determine a correlation between A VPR2 mutations and urinary AQP2 excretion, immunobloting was used to detect AQP2 in the urine of patients with CNDI before and after a dehydration test. The patients' genotype was determined using PCR amplification and direct sequencing of the complete A VPR2 gene. Urinary AQP2 excretion was absent in patients with severely debilitating mutations, a novel total deletion of the A VPR2 gene, and a novel nonsense mutation W296X. However, it was detected in siblings with a V88M missense mutation. Urinary AQP2 excretion correlated well with other tested phenotype markers. Urinary AQP2 excretion could be used to evaluate the remaining in vivo integrity of the AVP-V2 receptor-AQP2 cascade in patients with CNDI.
- Published
- 2007
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31. Goiter prevalence and urinary iodine concentration in Slovenian adolescents.
- Author
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Kotnik P, Sirca Campa A, Zupancic M, Stimec M, Smole K, Mis NF, Battelino T, and Krzisnik C
- Subjects
- Adolescent, Creatinine urine, Dietary Supplements, Female, Goiter, Endemic epidemiology, Humans, Male, Prevalence, Slovenia, Sodium Chloride, Dietary, Thyroid Gland pathology, Goiter epidemiology, Goiter urine, Iodine deficiency, Iodine urine
- Abstract
Context: Slovenian school-age children are, as are more than half of European school-age children, still considered to be iodine deficient. In 1999, supplementation of salt was increased from 10 to 25 mg of KI/kg of salt., Objective: The objective of our study was to determine the success of this intervention., Design and Patients: Twelve hundred sixty-four girls (mean age +/- SD: 15.7 +/- 0.6 years) and 1200 boys (15.8 +/- 0.8 years) representing 10% of all 15-year-old Slovenian adolescents were studied. Thyroid size was estimated by clinical examination in all subjects and by ultrasound when enlarged thyroid was suspected. Thyroid volume was also determined by ultrasound in 108 random iodine-sufficient adolescents. In addition, urinary iodine concentration was determined in all subjects., Results: Enlarged thyroid was determined by clinical examination and ultrasound in 0.9% of all subjects. In randomly selected iodine-sufficient subjects, enlarged thyroid was determined in 4.6%. Median urinary iodine concentration for the population was 140 microg/L. In all regions it was greater than or equal to 100 microg/L. Values less than 50 microg/L were determined in 2.5% of all subjects., Conclusions: Slovenian adolescents are iodine sufficient and the prevalence of goiter is low, indicating that increased KI supplementation of salt in 1999 was successful.
- Published
- 2006
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32. Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.
- Author
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Podkrajsek KT, Bratanic N, Krzisnik C, and Battelino T
- Subjects
- Adolescent, Adult, Base Sequence, Child, Cohort Studies, DNA Mutational Analysis, Female, Humans, Introns genetics, Male, Polyendocrinopathies, Autoimmune epidemiology, Prevalence, RNA Splice Sites genetics, RNA, Messenger analysis, Slovenia epidemiology, AIRE Protein, Frameshift Mutation, Polyendocrinopathies, Autoimmune genetics, Transcription Factors genetics
- Abstract
Context: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease associated with mutations in the AIRE gene., Objective: Our objective was to investigate clinical and mutational characteristics of 12 Slovenian patients from 10 families with APECED., Methods: Direct sequencing, restriction fragment length polymorphism, and amplification refractory mutation system analyses were used to identify AIRE gene mutations. Autoimmune regulator (AIRE)-1 mRNA analysis was used to confirm pathogenicity of the intronic mutation., Results: The prevalence of APECED in Slovenian population was estimated to be 1 in 43,000, which is significantly higher compared with the neighboring populations. Three novel mutations were identified among six different mutations detected in the AIRE gene. The first novel mutation was an intronic mutation (653-7_-5delCTC) affecting proper splicing by using a nearby new acceptor splice site as demonstrated by AIRE-1 mRNA analyses. The second and third novel mutations were frame-shift mutations located in exon 5 (540delG) and exon 9 (1064-1068dupCCCGG), both leading to premature truncation of the AIRE protein. The Finnish R257X mutation was the most frequent AIRE gene mutation in Slovenian patients with APECED (16 of 24 alleles)., Conclusions: Three novel AIRE gene mutations were identified. For the first time, a novel intronic mutation was investigated on the mRNA level in APECED. This could be particularly important for APECED patients where no or only heterozygous mutation on the genomic DNA level is detected.
- Published
- 2005
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33. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
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Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, and Battelino T
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- Adrenal Hyperplasia, Congenital diagnosis, Child, Europe, Eastern epidemiology, Female, Gene Deletion, Gene Frequency, Genetic Counseling, Genotype, Humans, Male, Phenotype, Point Mutation, Adrenal Hyperplasia, Congenital ethnology, Adrenal Hyperplasia, Congenital genetics, Genetic Testing methods, Steroid 21-Hydroxylase genetics
- Abstract
Objective: To analyze the mutational spectrum of steroid 21-hydroxylase (CYP21) and the genotype- phenotype correlation in patients with congenital adrenal hyperplasia (CAH) registered in the Middle European Society for Pediatric Endocrinology CAH database, and to design a reliable and rational approach for CYP21 mutation detection in Middle European populations., Design and Methods: Molecular analysis of the CYP21 gene was performed in 432 CAH patients and 298 family members. Low-resolution genotyping was performed to detect the eight most common point mutations. High-resolution genotyping, including Southern blotting and sequencing was performed to detect CYP21 gene deletions, conversions, point mutations or other sequence changes., Results: CYP21 gene deletion and In2 and Ile172Asn mutation accounted for 72.7% of the affected alleles in the whole study group. A good genotype-phenotype correlation was observed, with the exception of Ile172Asn and Pro30Leu mutations. In 37% of patients low resolution genotyping could not identify the causative mutation or distinguish homozygosity from hemizygosity. Using high-resolution genotyping, the causative mutations could be identified in 341 out of 348 analyzed patients. A novel mutation Gln315Stop was found in one simple virilising CAH (SV-CAH) patient from Austria. In the remaining seven patients polymorphisms were identified as the leading sequence alteration. The presence of elevated basal and ACTH-stimulated 17-hydroxyprogesterone, premature pubarche, advanced bone age and clitoral hypertrophy directly implicated Asn493Ser polymorphism in the manifestation of nonclassical- (NC) and even SV-CAH., Conclusions: By genotyping for the most common point mutations, CYP21 gene deletion/conversion and the 8 bp deletion in exon 3, it should be possible to identify the mutation in 94-99% of the diseased alleles in any investigated Middle European population. In patients with a mild form of the disease and no detectable mutation CYP21 gene polymorphisms should be considered as a plausible disease-causing mutation.
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- 2005
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34. Altered expression of COX-1, COX-2, and mPGES in rats with nephrogenic and central diabetes insipidus.
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Kotnik P, Nielsen J, Kwon TH, Krzisnik C, Frøkiaer J, and Nielsen S
- Subjects
- Animals, Cyclooxygenase 1, Cyclooxygenase 2, Deamino Arginine Vasopressin pharmacology, Dehydration, Diabetes Insipidus, Nephrogenic chemically induced, Diabetes Insipidus, Nephrogenic drug therapy, Diabetes Insipidus, Neurogenic drug therapy, Dinoprostone biosynthesis, Dinoprostone urine, Kidney Concentrating Ability drug effects, Kidney Cortex enzymology, Kidney Medulla enzymology, Lithium pharmacology, Male, Membrane Proteins, Polyuria chemically induced, Polyuria drug therapy, Polyuria metabolism, Rats, Rats, Brattleboro, Rats, Wistar, Renal Agents pharmacology, Vasopressins deficiency, Vasopressins metabolism, Water Deprivation, Diabetes Insipidus, Nephrogenic metabolism, Diabetes Insipidus, Neurogenic metabolism, Intramolecular Oxidoreductases metabolism, Prostaglandin-Endoperoxide Synthases metabolism
- Abstract
Prostaglandins have an important role in renal salt and water reabsorption. PGE2 is the main kidney prostaglandin and is thought to be mainly produced in the kidney inner medulla (IM). There are indications that PGE2 synthesis in nephrogenic (NDI) and central (CDI) diabetes insipidus is altered. We hypothesize that the expression of the major PGE2 synthesis enzymes cyclooxygenases 1 and 2 (COX-1, COX-2) and membrane-associated PGE2 synthase (mPGES) is altered in the kidneys of rats with NDI and CDI. Wistar rats treated with lithium for 4 wk were used as the NDI model. One-half of the NDI model rats were additionally dehydrated for 48 h. Brattleboro (BB) rats that lack endogenous antidiuretic hormone were used as the CDI model. Expression and localization of COX-1, COX-2, and mPGES in IM, inner stripe of outer medulla (ISOM), and cortex were determined by immunoblotting and immunohistochemistry. In lithium-induced NDI, expression of COX-1, COX-2, and mPGES was markedly decreased in IM. In ISOM and cortex, COX-1 expression was marginally reduced and mPGES expression was unaltered. COX-2 expression was undetected in ISOM and marginally increased in cortex. Consistent with this, the density of COX-2-expressing cells in macula densa was significantly increased, indicating differential regulation of COX-2 in IM and cortex. Dehydration of NDI rats resulted in a marked increase in COX-2 immunolabeling in IM interstitial cells, and there was no significant change in COX-1 and mPGES expression in any kidney zone. Treatment of DDAVP in BB rats for 6 days resulted in a markedly increased expression of COX-1, COX-2, and mPGES in IM. In the cortex, there were no changes in the expression of COX-1 and mPGES, whereas COX-2 expression was decreased. These results identify markedly reduced expression of COX-1, COX-2, and mPGES in IM in lithium-induced NDI. Furthermore, there were major changes in the expression of COX-1, COX-2, and mPGES in rats with CDI.
- Published
- 2005
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35. The use of continuous subcutaneous insulin infusion (CSII) as the treatment of choice in children and adolescents with type 1 diabetes.
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Battelino T, Ursic-Bratina N, Bratanic N, Zerjav-Tansek M, Avbelj M, and Krzisnik C
- Subjects
- Adolescent, Adult, Biomarkers blood, Child, Child, Preschool, Diabetes Mellitus, Type 1 blood, Female, Follow-Up Studies, Glycated Hemoglobin metabolism, Humans, Infant, Infant, Newborn, Male, Prospective Studies, Treatment Outcome, Diabetes Mellitus, Type 1 drug therapy, Hypoglycemic Agents administration & dosage, Infusion Pumps, Insulin administration & dosage
- Abstract
Continuous subcutaneous insulin infusion (CSII) by external pumps is shown in several clinical trials to be a safe and effective treatment modality for patients with T1D. The present prospective observational study evaluated the efficacy and safety of CSII in children and adolescents treated in a routine clinical setting. 186 patients using CSII from 3 to 30 months were included in the analysis. A significant decrease of GlyHbA1c was observed after 3 months (p < 0.005) and was sustained throughout the study with a mean all over reduction of 0.7%. Events of ketoacidosis and severe hypoglycemia amounted to 0.027 and 0.014 per patient-year, respectively. Routine use of CSII in children and adolescents with T1D is effective in improving metabolic control and associated with a very low incidence of ketoacidosis or severe hypoglycemia.
- Published
- 2004
36. Motor activity during asymptomatic nocturnal hypoglycemia in adolescents with type 1 diabetes mellitus.
- Author
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Radan I, Rajer E, Ursic Bratina N, Neubauer D, Krzisnik C, and Battelino T
- Subjects
- Adolescent, Diabetes Mellitus, Type 1 blood, Female, Humans, Hypoglycemia blood, Male, Periodicity, Reference Values, Regression Analysis, Blood Glucose metabolism, Diabetes Mellitus, Type 1 physiopathology, Hypoglycemia physiopathology, Motor Activity physiology, Sleep physiology
- Abstract
Nocturnal hypoglycemia is reported in 13%-56% of adolescents with type 1 diabetes mellitus. It may be asymptomatic in more than 50% of patients. No noninvasive method for detecting asymptomatic nocturnal hypoglycemia (ANH) has so far proven successful. The aim of the present study was to evaluate quantitative changes of motor activity by actigraphy during episodes of ANH in adolescents with type 1 diabetes mellitus. A total of 18 patients aged 10-16 years with a history of ANH were investigated. Blood was sampled at half-hourly intervals between 22.30 and 06.00 hours with a micropump, and an actigraph was fastened to the right wrist. Blood glucose concentrations were measured and compared to motor activity. Nocturnal hypoglycemia was recorded in 10 patients (55%), with blood glucose during periods of hypoglycemia of 3.00+0.17 mmol/l (range, 1.2-3.4 mmol/l), and duration of hypoglycemia of 1.95+1.34 hours (range, 0.5-5.0 hours). All periods of hypoglycemia were clinically asymptomatic. Regression analysis revealed a statistically significant linear correlation ( p=0.03) between blood glucose concentration and the respective 30-min activity counts. Activity counts in patients with nocturnal hypoglycemia were significantly (ANOVA, p<0.02) higher than in patients with normoglycemia. We conclude that low blood glucose was significantly correlated with an increase in motor activity as detected by actigraphy. This implies the possibility of noninvasive screening of asymptomatic nocturnal hypoglycemia.
- Published
- 2004
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37. A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.
- Author
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Avbelj M, Hocevar M, Trebusak-Podkrajsek K, Krzisnik C, and Battelino T
- Subjects
- Cyclin-Dependent Kinase Inhibitor p16 metabolism, DNA Mutational Analysis, Deoxyribonucleases, Type II Site-Specific pharmacology, Family Health, Genes, p16, Genetic Predisposition to Disease, Heterozygote, Humans, Oligonucleotides genetics, Polymerase Chain Reaction, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length, Slovenia, Temperature, Melanoma genetics, Mutation
- Abstract
About 10% of melanoma cases have clinical factors indicative of hereditary cancer. CDKN2A is a major melanoma susceptibility gene in familial malignant melanoma. In this study a novel L94Q missense mutation of the CDKN2A gene is described in a melanoma kindred with two affected second-degree family members. To detect the mutation, polymerase chain reaction (PCR) amplification methods and direct sequencing were used. The presence of the mutation was confirmed by restriction fragment length polymorphism analysis after digestion of the PCR amplicons with the restriction endonuclease BspMI. The penetrance of the novel mutation was shown to be incomplete. Functional importance of the mutation was assumed from the protein p16 structure.
- Published
- 2003
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38. The HLA-DRB, -DQB polymorphism and anti-insulin antibody response in Slovenian patients with type 1 diabetes.
- Author
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Battelino T, Ursic-Bratina N, Dolzan V, Stopar-Obreza M, Pozzilli P, Krzisnik C, and Vidan-Jeras B
- Subjects
- Adolescent, Adult, Antibodies immunology, Autoantibodies blood, Case-Control Studies, Child, Child, Preschool, Gene Frequency, Genetic Predisposition to Disease, Glutamate Decarboxylase immunology, HLA-DQ Antigens immunology, HLA-DQ beta-Chains, HLA-DR Antigens immunology, HLA-DRB1 Chains, Humans, Insulin immunology, Slovenia, White People genetics, Diabetes Mellitus, Type 1 genetics, Diabetes Mellitus, Type 1 immunology, HLA-DQ Antigens genetics, HLA-DR Antigens genetics, Polymorphism, Genetic
- Abstract
A combination of specific HLA class II antigens and the presence of type 1 diabetes (T1D)-related antibodies has a high positive predictive value for T1D but low sensitivity. The aim of the present study was to determine the frequencies of HLA-DRB-DQB deduced haplotypes associated with susceptibility and protection in Slovenian patients with established T1D, to evaluate the relationship between the HLA-DRB1-QBP-DQB1 haplotypes and the presence of insulin autoantibodies (IAA) and glutamic acid decarboxylase antibodies (GADA), and to access the possible impact of polymorphic QBP promoters on this relationship. A cohort of 135 patients with T1D (age 17.5 +/- 7.0 years, duration of T1D 9.14 +/- 6.3 years) was investigated. HLA-DRB1 and DQB1 alleles were typed using the polymerase chain reaction (PCR)-reverse line blot method. QBP promoter region alleles were determined using PCR-sequence-specific oligonucleotide hybridization (SSO) and PCR-sequence-specific primers (SSP). IAA and GADA antibodies were determined by enzyme-linked immunosorbent assay (ELISA). The chi-square test with Yates' correction was used for statistical analysis. Deduced haplotypes DRB1*0301-DQB1*0201 (P = 0.0001, OR = 3.4), DRB1*0401-DQB1*0302 (P = 0.0001, OR = 29.8), and DRB1*0402-DQB1*0302 (P = 0.008, OR = 4.7) were significantly more common, and DRB1*1501-DQB1*0602 (P = 0.0001, OR = 0.03) significantly less common in the investigated cohort than in a Slovenian control group. The highest risk and the strongest protective HLA-DR-DQ haplotypes found in Slovenian patients with T1D did not differ from those found in other Caucasian populations. While the DRB1*0301-QBP2.1-DQB1*0201 haplotype, where QBP2.1 did not help to further distinguish DQB1*0201-possessing haplotypes in IAA-positive and IAA-negative patients, was strongly associated with the presence of IAA, the DRB1*0101-QBP5.12-DQB1*0501 haplotype, although not protective compared to the control population, was associated with an absence of IAA in the investigated cohort. It is suggested that there may be a combined influence of the QBP5.12 promoter and the DQB1*0501 functional molecule on reduced IAA production.
- Published
- 2003
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39. Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.
- Author
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Lukac-Bajalo J, Marc J, Mlinar B, Karas N, Krzisnik C, and Battelino T
- Subjects
- Adult, Alleles, Amino Acid Substitution, Female, Galactosemias epidemiology, Galactosemias genetics, Gene Frequency, Genetic Testing, Genetic Variation genetics, Genetics, Population, Heterozygote, Homozygote, Humans, Male, Slovenia epidemiology, Introns genetics, UTP-Hexose-1-Phosphate Uridylyltransferase genetics
- Abstract
Numerous mutations in the galactose-1-phosphate uridyl transferase (GALT) gene have been found to impair GALT activity to different extent, causing galactosemia. This disorder exhibits considerable allelic heterogeneity in different populations and ethnic groups. The Q188R mutation accounts for 60-70% of classical galactosemia alleles in the Caucasian population. Individuals homoallelic for Q188R have a severe phenotype with complete loss of enzyme activity. Another form of GALT deficiency is Duarte galactosemia with N314D mutation associated alleles (Duarte-2). Although heterozygotes for classical galactosemia are asymptomatic at birth and Duarte galactosemia appears to be quite benign, there are some indications that these disorders can increase the risk of developing certain diseases later in life. The aim of our study was to analyze a healthy Slovenian population for the frequencies of Q188R and N314D mutations, and for the Duarte-2 indicative intronic variation IVS5-24G>A. DNA samples from 174 healthy subjects were analyzed for all three mutations by polymerase chain reaction and digestion with restriction enzymes. Allele frequencies for Q188R and N314D mutations and IVS5-24G>A intron variation were found to be 0.29%, 8.0% and 5.7%, respectively. These results correlate well with those reported for most other healthy Caucasian populations.
- Published
- 2002
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40. Incidence of childhood-onset Type I diabetes in Slovenia and the Tuzia region (Bosnia and Herzegovina) in the period 1990-1998.
- Author
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Bratina NU, Tahirović H, Battelino T, and Krzisnik C
- Subjects
- Age Factors, Bosnia and Herzegovina epidemiology, Child, Child, Preschool, Female, Humans, Incidence, Infant, Male, Registries, Sex Characteristics, Slovenia epidemiology, Diabetes Mellitus, Type 1 epidemiology
- Abstract
Aims/hypothesis: The incidence rate of childhood-onset Type I (insulin-dependent) diabetes mellitus in Slovenian children during the period 1990-1998 was studied and compared to that of children from the Tuzla region (Bosnia and Herzegovina). The secular trend for a 25-year period in Slovenia was also investigated., Methods: The incidence data were obtained from the national Slovenian Type I diabetes register and from the local Type I diabetes register held in Tuzla. The ascertainment was based on the capture-recapture method and was estimated to be 100%., Results: The age-standardized incidence of Type I diabetes mellitus for the age group 0-14 years for Slovenia was 8.54 per 100,000 (95 %-C.I. 7.5-9.5) person-years for both sexes. The incidence for boys was 8.03 per 100,000 (95 %-C.I. 6.7-9.4) and 9.12 per 100,000 (95% -C.I. 7.6-10.6) for girls. The age-standardized incidence in the Tuzla region was much lower: 3.03 per 100,000 (95 %-C.I. 2.0-4.1) for the whole group, 3.44 per 100 000 (95 %-C.I. 1.8-5.0) for boys and 3.21 per 100,000 (95 %-C.I. 1.6-4.7) for girls. A very low incidence of 0.8 per 100,000 in the youngest age group (0-4 years) was observed in the Tuzla region. The linear trend of the Type I diabetes incidence rate in Slovenia has been steadily increasing by 3.6% per year for the last 25 years. The incidence rate in the period 1974-1985 was significantly lower than that in the period 1986-1998 (p < 0.00026)., Conclusions/interpretation: Although the incidence rate in Slovenia slightly increased during the period 1990-1998, the incidence rate in the Tuzla region remained at the pre-war level.
- Published
- 2001
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41. TGF-beta activates genes identified by differential mRNA display in pancreatic rudiments.
- Author
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Battelino T, Miralles F, Krzisnik C, Scharfmann R, and Czernichow P
- Subjects
- Animals, DNA, Complementary genetics, Data Display, Embryo, Mammalian metabolism, Rats, Transcriptional Activation, Gene Expression Regulation physiology, Pancreas embryology, RNA, Messenger genetics, Transforming Growth Factor beta physiology
- Abstract
The effect of TGF-beta on gene activation in embryonic pancreatic rudiments was investigated using differential mRNA display. Several cDNA bands were augmented and some were suppressed in the presence of TGF-beta. Differentially expressed cDNAs were re-amplified, sequenced, and sequences compared to the GeneBank database. Glucagone and brain alpha-tropomyosin cDNAs were identified from the group of augmented cDNAs, and B-carboxypeptidase form the group of suppressed cDNAs. PCR experiments were confirmed with Northern blots. Obtained results are in accordance with immunohistochemical findings and render differential mRNA display a useful technique in identifying differentially expressed genes in embryonic pancreatic rudiments. Several unknown differentially expressed cDNA sequences obtained in our experiments remain to be identified.
- Published
- 2000
42. Tumor necrosis factor-alpha alters glucose metabolism in suckling rats.
- Author
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Battelino T, Goto M, Krzisnik C, and Zeller WP
- Subjects
- Animals, Animals, Suckling, Blood Glucose metabolism, Gene Expression Regulation, Developmental, Glucose Transporter Type 1, Indomethacin pharmacology, Insulin blood, Lactic Acid blood, Monosaccharide Transport Proteins genetics, Monosaccharide Transport Proteins metabolism, Organ Specificity, Phosphoenolpyruvate Carboxykinase (ATP) metabolism, RNA, Messenger metabolism, Rats, Rats, Sprague-Dawley, Tumor Necrosis Factor-alpha pharmacology, Glucose metabolism, Tumor Necrosis Factor-alpha physiology
- Abstract
Tumor necrosis factor-alpha (TNF-alpha), an important mediator of endotoxic shock, induces hypoglycemia and shock in adult animals. Indomethacin ameliorates TNF-alpha-induced hypoglycemia in the adult. However, effects of TNF-alpha on glucose metabolism in the newborn have not been well documented. The present study showed that in 10-day-old rats injected with TNF-alpha (4.5 x 10(7) U/kg, intraperitoneally) the plasma glucose concentration increased from 4.1 +/- 0.3 mmol/L to 6.9 +/- 0.5 mmol/L (P < .05) at 2 hours and subsequently decreased to 1.4 +/- 0.5 mmol/L (P < .05) at 6 hours, although plasma lactate concentration increased from 1.1 +/- 0.1 mmol/L to 5.5 +/- 0.3 mmol/L (P < .05) at 6 hours. Plasma insulin concentration remained unchanged throughout the experiment. TNF-alpha increased GLUT 1 messenger RNA (mRNA) abundance in the brain, liver, muscle, and fatty tissue (P < .05). Glucose uptake increased in association with the increase of GLUT1 mRNA abundance. TNF-alpha decreased mRNA abundance of GLUT 2 and phosphoenolpyruvate carboxykinase (PEPCK) in liver, suggesting decreased gluconeogenesis. Indomethacin (1.5 mg/kg 20 minutes before TNF-alpha, intraperitoneally) attenuated the hypoglycemia, the lactacidemia, and the increase of GLUT1 mRNA abundance and glucose uptake. Indomethacin attenuated the decrease of PEPCK mRNA abundance. We concluded that TNF-alpha induced hypoglycemia, increasing GLUT1 mRNA abundance and glucose uptake and decreasing PEPCK mRNA abundance in 10-day-old rats. Indomethacin attenuated the TNF-alpha-induced glucose dyshomeostasis.
- Published
- 1999
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43. Incidence of type 1 diabetes mellitus in children in Slovenia during the years 1988-1995.
- Author
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Battelino T and Krzisnik C
- Subjects
- Adolescent, Age Distribution, Child, Child, Preschool, Female, Humans, Incidence, Infant, Infant, Newborn, Male, Seasons, Sex Distribution, Slovenia, Diabetes Mellitus, Type 1 epidemiology
- Abstract
The incidence of type 1 diabetes mellitus in Slovenian children aged 0-14 years was studied between 1 January 1988 and 31 December 1995. The crude annual incidence rate of the disease (per 100000) over this 8-year period was 8.00 (95% C. I. 6.98-9.02) for both sexes (7.18 for boys and 8.87 for girls). Thus, the incidence standardized to the world population was 7.59 (95% C. I. 6.57 - 8.61). Male/female ratios were 1.33 in the age group 0-4 years, 0.66 in the age group 5-9 years, and 0.83 in the age group 10-14 years. The study has proven that the incidence of type 1 diabetes in Slovenia is similar to that in other central European countries where the population is of different ethnic origin. However, a remarkably higher incidence of the disease in girls than boys except in the age group below 5 years of age was found which needs further investigation.
- Published
- 1998
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44. Tissue glucose transport and glucose transporters in suckling rats with endotoxic shock.
- Author
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Battelino T, Goto M, Krzisnik C, and Zeller WP
- Subjects
- Age Factors, Animals, Biological Transport, Blood Glucose metabolism, Female, Glucose Transporter Type 1, Glucose Transporter Type 2, Glucose Transporter Type 4, Hyperinsulinism complications, Hyperinsulinism metabolism, Hypoglycemia complications, Hypoglycemia metabolism, Insulin blood, Monosaccharide Transport Proteins genetics, Phosphoenolpyruvate Carboxykinase (GTP) genetics, Phosphoenolpyruvate Carboxykinase (GTP) metabolism, RNA, Messenger metabolism, Rats, Rats, Sprague-Dawley, Shock, Septic complications, Tissue Distribution, Glucose metabolism, Monosaccharide Transport Proteins metabolism, Muscle Proteins, Shock, Septic metabolism, Sucking Behavior
- Abstract
Hypoglycemia occurs without hyperinsulinemia in suckling rats with endotoxic shock. However, tissue glucose uptake during endotoxic shock is not well known in the newborn. GLUT1 is insulin insensitive and is the predominant glucose transporter in 10 day old rats. In the adult with endotoxic shock, noninsulin-mediated glucose uptake and GLUT1 gene expression increase. Therefore, we hypothesized that tissue glucose uptake and GLUT1 mRNA abundance increased in 10 day old rats with endotoxic shock. The present study showed that whole body glucose disposal increased 3 h after a Salmonella enteritidis lipopolysaccharide injection (LD90 at 72 h). Plasma insulin concentration was not altered. Tissue glucose uptake increased in liver (2.4-fold) and fat (2.6-fold). However, changes of GLUT1 protein concentration were not detected in liver. GLUT1 mRNA abundance increased in liver (9-fold) and fat (4-fold). GLUT1 mRNA abundance but not glucose uptake increased in muscle. Neither glucose uptake or GLUT1 mRNA abundance was altered in brain. The mRNA abundance of tissue-specific glucose transporters (GLUT2 and GLUT4) was not altered. Thus, tissue glucose uptake and GLUT1 mRNA abundance increased without hyperinsulinemia during endotoxic shock in 10 day old rats.
- Published
- 1996
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45. Testing for thyroid function recovery in children and adolescents with Hashimoto thyroiditis.
- Author
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Battelino T, Krzisnik C, Gottschalk ME, and Zeller WP
- Subjects
- Adolescent, Child, Female, Humans, Male, Prospective Studies, Reproducibility of Results, Thyroid Function Tests, Thyrotropin-Releasing Hormone, Treatment Outcome, Thyroiditis, Autoimmune drug therapy, Thyroxine therapeutic use
- Abstract
Thyroid function in children and adolescents with primary hypothyroidism owing to Hashimoto thyroiditis was studied to evaluate criteria for the discontinuation of thyroxine therapy. A cohort of 29 children and adolescents was prospectively studied for one year. A thyrotropin-releasing hormone stimulation test with measurements of basal and stimulated thyrotropin and thyroxine was performed at the beginning of the study and 6 and 12 months later. In 59 percent of patients, persistent biochemical evidence of hypothyroidism was observed. Interindividual variations and variations among measurements in individual patients were much greater than those reported for healthy individuals. In one patient, all measured values were consistently normal, and the therapy was successfully discontinued. No single measurement or test could predict the natural course of disease. In summary, children and adolescents with hypothyroidism owing to Hashimoto thyroiditis can not have discontinued replacement thyroxine therapy on the basis of any single evaluation of thyroid function, as proposed for adults. If the decision to discontinue the therapy in this age group is made on the basis of previous follow-up, a substantial possibility of relapse remains and continuous follow up is necessary.
- Published
- 1994
46. A case of Laron syndrome diagnosed in Slovenia.
- Author
-
Krzisnik C, Silbergeld A, and Laron Z
- Subjects
- Child, Child, Preschool, Dwarfism genetics, Dwarfism metabolism, Growth, Growth Hormone blood, Humans, Male, Insulin-Like Growth Factor I deficiency
- Abstract
We report the first case of Laron syndrome (LS) diagnosed in Slovenia. The boy, a product of non-consanguineous Slovenian parents of normal height, presented with slow growth and motor development since birth. At age 4 and 6 years, he had all the characteristic signs of LS, identical to those in growth hormone deficiency (GHD). Laboratory tests showed hypoglycemia, markedly elevated plasma hGH, low serum insulin-like growth factor-1 (IGF-1) with no rise after exogenous hGH, and low serum growth hormone binding protein (GHBP). A sister of the maternal grandfather is short (145 cm) and was found to have below normal serum GHBP, findings compatible with heterozygocity for this disorder.
- Published
- 1994
- Full Text
- View/download PDF
47. Late sequelae in children treated for brain tumors and leukemia.
- Author
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Jereb B, Korenjak R, Krzisnik C, Petric-Grabnar G, Zadravec-Zaletel L, Anzic J, and Stare J
- Subjects
- Adolescent, Adult, Affective Symptoms etiology, Astrocytoma radiotherapy, Brain radiation effects, Child, Child, Preschool, Ependymoma radiotherapy, Female, Follow-Up Studies, Germinoma radiotherapy, Humans, Leukemia drug therapy, Male, Medulloblastoma radiotherapy, Pituitary Gland radiation effects, Pituitary Hormones deficiency, Psychological Tests, Psychomotor Performance radiation effects, Surveys and Questionnaires, Survivors, Thyroid Hormones deficiency, Verbal Behavior radiation effects, Brain Damage, Chronic etiology, Brain Neoplasms radiotherapy, Cranial Irradiation adverse effects, Intelligence radiation effects, Leukemia radiotherapy, Thyroid Gland radiation effects
- Abstract
Forty-two survivors treated at an age of 2-16 years for brain tumors or leukemia were, 4-21 years after treatment, subjected to an extensive follow-up investigation, including physical examination and interview; 35 of them also had endocrinological and 33 psychological evaluation. Hormonal deficiencies were found in about two-thirds of patients and were most common in those treated for brain tumors. The great majority had verbal intelligence quotient (VIQ) within normal range. Also, the performance intelligence quotients (PIQ) were normal in most patients. However, the results suggested that the primary intellectual capacity in children treated for cancer was not being fully utilized, their PIQ being on the average higher than their VIQ; this tendency was especially pronounced in the leukemia patients.
- Published
- 1994
- Full Text
- View/download PDF
48. Glycosylated hemoglobin in fractions of erythrocytes of different ages.
- Author
-
Krzisnik C and Lukac-Bajalo J
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Male, Diabetes Mellitus, Type 1 blood, Erythrocyte Aging, Erythrocytes chemistry, Glycated Hemoglobin analysis
- Abstract
In 65 children and adolescents with type I diabetes and in 23 healthy controls, glycosylated hemoglobin (HbA1) was measured by ion exchange chromatography in a specimen of whole blood and in three fractions of erythrocytes of different ages. The red blood cells were separated in a density-gradient medium. Three layers were obtained. The top one consisted of younger and lighter cells, while the heaviest and oldest cells were found in the bottom layer. The separation was evaluated by measuring the potassium concentration, which was significantly different in each fraction (p < 0.001). In all healthy controls the lowest HbA1 value was measured in the youngest and the highest in the oldest erythrocytes. In the diabetic patients, however, the HbA1 levels in individual red cell fractions depended on the degree of metabolic control during the life span of the cells. Significant correlation was found between the HbA1 levels in the youngest erythrocytes and metabolic control in the two-week period before investigation (p < 0.001), between the HbA1 content of the medium-aged cell fraction and control two months before assay (p < 0.001), and between HbA1 levels in the oldest erythrocytes and control three and especially four months prior to investigation (p < 0.001). The results of HbA1 determination in the fraction of the youngest cells which show the highest correlation (-0.75) with the glucosuria two weeks prior to assay indicate to be one of possibilities to get information about metabolic control in that period.
- Published
- 1993
- Full Text
- View/download PDF
49. [Connection between congenital adrenal hyperplasia due to 21-hydroxylase deficiency and the HLA genotype].
- Author
-
Dumić M, Brkljacić L, Krzisnik C, Radica A, Tajić M, and Kastelan A
- Subjects
- Child, Female, HLA Antigens analysis, Humans, Male, Mixed Function Oxygenases genetics, Steroid 21-Hydroxylase genetics, Adrenal Hyperplasia, Congenital genetics, HLA Antigens genetics, Mixed Function Oxygenases deficiency, Steroid Hydroxylases deficiency
- Published
- 1983
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