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1. Autosomal Dominant Alport′s syndrome: Study of a Large Tunisian Family

Author

Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Hmida M, Gubler M, Ayadi H, and Hachicha J

Subjects
Hereditary nephritis, Alport′s syndrome, Autosomal dominant., Medicine
Abstract

Alport′s syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport′s syndrome is often associated with sensorineural deafness and/or ocular abnormalities. In contrast with the well-known X-linked phenotype, very little is known about the autosomal dominant form caused by mutations in COL4A3 and COL4A4 in the chromosome region 2q35-q37. We describe a Tunisian family with autosomal dominant Alport′s syndrome in which males and females were equally affected. Two members reached ESRD at age 40 and 53 years, respectively. Three members experienced isolated microhematuria and one member experienced sensorineural deafness. No eye abnormalities were observed. Immunohistochemical studies showed a normal distribution of the α5 (type IV collagen) chain in the epidermal basement membrane. Genetic analysis demonstrated that a common haplotype co-segregated with the disease in the heterozygous state in all affected patients, thereby, confirming an autosomal dominant mode of inheritance. The same haplotype was observed in two asymptomatic children. We conclude that autosomal dominant Alport′s syndrome, follows a rare mode of inheritance and exhibits a milder phenotype than usually observed in classic X-linked Alport′s syndrome. The frequency of this mode of inheritance should be confirmed by a larger study.

Published
2006

6. Insight evaluation in a Tunisian stabilized outpatients with schizophrenia.

Author

Ajmi, S., Bouhamed, M., Makni, K., Masmoudi, R., Feki, I., Sallemi, R., and Masmoudi, J.

Subjects
CONSULTATION-liaison psychiatry, ATTEMPTED suicide, PROGNOSIS, SEX ratio, PEOPLE with schizophrenia
Abstract

Introduction: Schizophrenia is a chronic condition that leads to major socio-professional disintegration and personal suffering. In addition to the classic clinical symptoms, these patients also suffer from poor insight. Objectives: To assess insight in a population followed up for schizophrenia Methods: We conducted a cross-sectional and descriptive which concerned the patients followed in the unit of outpatient post-cure consultations of psychiatry 'A' at the CHU Hedi Chaker of Sfax. We included 72 stabilized patients diagnosed with schizophrenia according to the DSM criteria 5. For the collection of sociodemographic and clinical data, we used a pre-established sheet. We used the schedule for the Assessment of Insight–Expanded Version(SAI-E) scale to assess clinical insight Results: The mean age of the patients in our study was 46.83 ± 11.6 years, with a sex ratio (M/F) of 2. They were single in 48.5%, and unemployed in 69.4%. Their level of education did not exceed primary school at 44.4% and their socio-economic level was low at 63.9%. In our study, 72.2% of patients had no somatic history and 36.1% had a history of attempted suicide. Using the SAI-E scale, the mean score was 20.1 with a minimum of 5 and a maximum of 28. Conclusions: At the end of this evaluation, it is important to emphasize that insight seems to be an important prognostic factor. Disclosure of Interest: None Declared [ABSTRACT FROM AUTHOR]

Published
2024
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10. Poster Session 4: Friday 9 December 2011, 14:00-18:00 * Location: Poster Area

Author

Wang, M., primary, Yan, G., additional, Yue, W., additional, Siu, C., additional, Tse, H., additional, Perperidis, A., additional, Cusack, D., additional, White, A., additional, Macgillivray, T., additional, Mcdicken, W., additional, Anderson, T., additional, Ryabov, V., additional, Shurupov, V., additional, Suslova, T., additional, Markov, V., additional, Elmstedt, N., additional, Ferm Widlund, K., additional, Lind, B., additional, Brodin, L.-A., additional, Westgren, M., additional, Mantovani, F., additional, Barbieri, A., additional, Bursi, F., additional, Valenti, C., additional, Quaglia, M., additional, Modena, M., additional, Peluso, D., additional, Muraru, D., additional, Dal Bianco, L., additional, Beraldo, M., additional, Solda', E., additional, Tuveri, M., additional, Cucchini, U., additional, Al Mamary, A., additional, Badano, L., additional, Iliceto, S., additional, Goncalves, A., additional, Almeria, C., additional, Marcos-Alberca, P., additional, Feltes, G., additional, Hernandez-Antolin, R., additional, Rodriguez, H., additional, Maroto, L., additional, Silva Cardoso, J., additional, Macaya, C., additional, Zamorano, J., additional, Squarciotta, S., additional, Innocenti, F., additional, Guzzo, A., additional, Bianchi, S., additional, Lazzeretti, D., additional, De Villa, E., additional, Vicidomini, S., additional, Del Taglia, B., additional, Donnini, C., additional, Pini, R., additional, Mennie, C., additional, Salmasi, A. M., additional, Kutyifa, V., additional, Nagy, V., additional, Edes, E., additional, Apor, A., additional, Merkely, B., additional, Nyrnes, S., additional, Lovstakken, L., additional, Torp, H., additional, Haugen, B., additional, Said, K., additional, Shehata, A., additional, Ashour, Z., additional, El-Tobgy, S., additional, Cameli, M., additional, Bigio, E., additional, Lisi, M., additional, Righini, F., additional, Franchi, F., additional, Scolletta, S., additional, Mondillo, S., additional, Gayat, E., additional, Weinert, L., additional, Yodwut, C., additional, Mor-Avi, V., additional, Lang, R., additional, Hrynchyshyn, N., additional, Kachenoura, N., additional, Diebold, B., additional, Khedim, R., additional, Senesi, M., additional, Redheuil, A., additional, Mousseaux, E., additional, Perdrix, L., additional, Yurdakul, S., additional, Erdemir, V., additional, Tayyareci, Y., additional, Memic, K., additional, Yildirimturk, O., additional, Aytekin, V., additional, Gurel, M., additional, Aytekin, S., additional, Gargani, L., additional, Fernandez Cimadevilla, C., additional, La Falce, S., additional, Landi, P., additional, Picano, E., additional, Sicari, R., additional, Smedsrud, M. K., additional, Gravning, J., additional, Eek, C., additional, Morkrid, L., additional, Skulstad, H., additional, Aaberge, L., additional, Bendz, B., additional, Kjekshus, J., additional, Edvardsen, T., additional, Bajraktari, G., additional, Hyseni, V., additional, Morina, B., additional, Batalli, A., additional, Tafarshiku, R., additional, Olloni, R., additional, Henein, M., additional, Mjolstad, O., additional, Snare, S., additional, Folkvord, L., additional, Helland, F., additional, Haraldseth, O., additional, Grimsmo, A., additional, Berry, M., additional, Zaghden, O., additional, Nahum, J., additional, Macron, L., additional, Lairez, O., additional, Damy, T., additional, Bensaid, A., additional, Dubois Rande, J., additional, Gueret, P., additional, Lim, P., additional, Nciri, N., additional, Issaoui, Z., additional, Tlili, C., additional, Wanes, I., additional, Foudhil, H., additional, Dachraoui, F., additional, Grapsa, J., additional, Dawson, D., additional, Nihoyannopoulos, P., additional, Gianturco, L., additional, Turiel, M., additional, Atzeni, F., additional, Sarzi-Puttini, P., additional, Stella, D., additional, Donato, L., additional, Tomasoni, L., additional, Jung, P., additional, Mueller, M., additional, Huber, T., additional, Sevilmis, G., additional, Kroetz, F., additional, Sohn, H., additional, Panoulas, V., additional, Bratsas, A., additional, Raso, R., additional, Tartarisco, G., additional, Pioggia, G., additional, Gargiulo, P., additional, Petretta, M., additional, Cuocolo, A., additional, Prastaro, M., additional, D'amore, C., additional, Vassallo, E., additional, Savarese, G., additional, Marciano, C., additional, Paolillo, S., additional, Perrone Filardi, P., additional, Aggeli, C., additional, Felekos, I., additional, Roussakis, G., additional, Poulidakis, E., additional, Pietri, P., additional, Toutouzas, K., additional, Stefanadis, C., additional, Kaladaridis, A., additional, Skaltsiotis, I., additional, Kottis, G., additional, Bramos, D., additional, Takos, D., additional, Matthaios, I., additional, Agrios, I., additional, Papadopoulou, E., additional, Moulopoulos, S., additional, Toumanidis, S., additional, Carrilho-Ferreira, P., additional, Cortez-Dias, N., additional, Jorge, C., additional, Silva, D., additional, Silva Marques, J., additional, Placido, R., additional, Santos, L., additional, Ribeiro, S., additional, Fiuza, M., additional, Pinto, F., additional, Stoickov, V., additional, Ilic, S., additional, Deljanin Ilic, M., additional, Kim, W., additional, Woo, J., additional, Bae, J., additional, Kim, K., additional, Descalzo, M., additional, Rodriguez, J., additional, Moral, S., additional, Otaegui, I., additional, Mahia, P., additional, Garcia Del Blanco, L., additional, Gonzalez Alujas, T., additional, Figueras, J., additional, Evangelista, A., additional, Garcia-Dorado, D., additional, Takeuchi, M., additional, Kaku, K., additional, Otani, K., additional, Iwataki, M., additional, Kuwaki, H., additional, Haruki, N., additional, Yoshitani, H., additional, Otsuji, Y., additional, Kukucka, M., additional, Pasic, M., additional, Unbehaun, A., additional, Dreysse, S., additional, Mladenow, A., additional, Kuppe, H., additional, Hetzer, R., additional, Rajamannan, N., additional, Tanrikulu, A., additional, Kristiansson, L., additional, Gustafsson, S., additional, Lindmark, K., additional, Henein, M. Y., additional, Evdoridis, C., additional, Stougiannos, P., additional, Thomopoulos, M., additional, Fosteris, M., additional, Spanos, P., additional, Sionis, G., additional, Giatsios, D., additional, Paschalis, A., additional, Sakellaris, C., additional, Trikas, A., additional, Yong, Z. Y., additional, Boerlage-Van Dijk, K., additional, Koch, K., additional, Vis, M., additional, Bouma, B., additional, Piek, J., additional, Baan, J., additional, Abid, L., additional, Frikha, Z., additional, Makni, K., additional, Maazoun, N., additional, Abid, D., additional, Hentati, M., additional, Kammoun, S., additional, Barbier, P., additional, Staron, A., additional, Cefalu', C., additional, Berna, G., additional, Gripari, P., additional, Andreini, D., additional, Pontone, G., additional, Pepi, M., additional, Ring, L., additional, Rana, B., additional, Ho, S., additional, Wells, F., additional, Dogan, A., additional, Karaca, O., additional, Guler, G., additional, Guler, E., additional, Gunes, H., additional, Alizade, E., additional, Agus, H., additional, Gol, G., additional, Esen, O., additional, Esen, A., additional, Turkmen, M., additional, Agricola, E., additional, Ingallina, G., additional, Ancona, M., additional, Maggio, S., additional, Slavich, M., additional, Tufaro, V., additional, Oppizzi, M., additional, Margonato, A., additional, Orsborne, C., additional, Irwin, B., additional, Pearce, K., additional, Ray, S., additional, Garcia Alonso, C., additional, Vallejo, N., additional, Labata, C., additional, Lopez Ayerbe, J., additional, Teis, A., additional, Ferrer, E., additional, Nunez Aragon, R., additional, Gual, F., additional, Pedro Botet, M., additional, Bayes Genis, A., additional, Santos, C. M., additional, Carvalho, M., additional, Andrade, M., additional, Dores, H., additional, Madeira, S., additional, Cardoso, G., additional, Ventosa, A., additional, Aguiar, C., additional, Ribeiras, R., additional, Mendes, M., additional, Petrovic, M., additional, Milasinovic, G., additional, Vujisic-Tesic, B., additional, Nedeljkovic, I., additional, Zamaklar-Trifunovic, D., additional, Petrovic, I., additional, Draganic, G., additional, Banovic, M., additional, Boricic, M., additional, Villarraga, H., additional, Molini-Griggs Bs, C., additional, Silen-Rivera Bs, P., additional, Payne Mph Ms, B., additional, Koshino Md Phd, Y., additional, Hsiao Md, J., additional, Monivas Palomero, V., additional, Mingo Santos, S., additional, Mitroi, C., additional, Garcia Lunar, I., additional, Garcia Pavia, P., additional, Castro Urda, V., additional, Toquero, J., additional, Gonzalez Mirelis, J., additional, Cavero Gibanel, M., additional, Fernandez Lozano, I., additional, Oko-Sarnowska, Z., additional, Wachowiak-Baszynska, H., additional, Katarzynska-Szymanska, A., additional, Trojnarska, O., additional, Grajek, S., additional, Bellavia, D., additional, Pellikka, P., additional, Dispenzieri, A., additional, Oh, J. K., additional, Polizzi, V., additional, Pitrolo, F., additional, Musumeci, F., additional, Miller, F., additional, Ancona, R., additional, Comenale Pinto, S., additional, Caso, P., additional, Severino, S., additional, Cavallaro, C., additional, Vecchione, F., additional, D'onofrio, A., additional, Calabro', R., additional, Maceira Gonzalez, A. M., additional, Ripoll, C., additional, Cosin-Sales, J., additional, Igual, B., additional, Salazar, J., additional, Belloch, V., additional, Cosin-Aguilar, J., additional, Pinamonti, B., additional, Iorio, A., additional, Bobbo, M., additional, Merlo, M., additional, Barbati, G., additional, Massa, L., additional, Faganello, G., additional, Di Lenarda, A., additional, Sinagra, G. F., additional, Ishizu, T., additional, Seo, Y., additional, Enomoto, M., additional, Kameda, Y., additional, Ishibashi, N., additional, Inoue, M., additional, Aonuma, K., additional, Saleh, A., additional, Matsumori, A., additional, Negm, H., additional, Fouad, H., additional, Onsy, A., additional, Hamodraka, E., additional, Paraskevaidis, I., additional, Kallistratos, M., additional, Lezos, V., additional, Zamfir, T., additional, Manetos, C., additional, Mavropoulos, D., additional, Poulimenos, L., additional, Kremastinos, D., additional, Manolis, A., additional, Citro, R., additional, Rigo, F., additional, Ciampi, Q., additional, Patella, M., additional, Provenza, G., additional, Zito, C., additional, Tagliamonte, E., additional, Rotondi, F., additional, Silvestri, F., additional, Bossone, E., additional, Beltran Correas, P., additional, Gutierrez Landaluce, C., additional, Gomez Bueno, M., additional, Segovia Cubero, J., additional, Beladan, C., additional, Matei, F., additional, Popescu, B., additional, Calin, A., additional, Rosca, M., additional, Boanta, A., additional, Enache, R., additional, Savu, O., additional, Usurelu, C., additional, Ginghina, C., additional, Ciobanu, A. O., additional, Dulgheru, R., additional, Magda, S., additional, Dragoi, R., additional, Florescu, M., additional, Vinereanu, D., additional, Robalo Martins, S., additional, Calisto, C., additional, Goncalves, S., additional, Barrigoto, I., additional, Carvalho De Sousa, J., additional, Almeida, A., additional, Nunes Diogo, A., additional, Sargento, L., additional, Satendra, M., additional, Sousa, C., additional, Lousada, N., additional, Palma Reis, R., additional, Schiano Lomoriello, V., additional, Esposito, R., additional, Santoro, A., additional, Raia, R., additional, Schiattarella, P., additional, Dores, E., additional, Galderisi, M., additional, Mansencal, N., additional, Caille, V., additional, Dupland, A., additional, Perrot, S., additional, Bouferrache, K., additional, Vieillard-Baron, A., additional, Jouffroy, R., additional, Moceri, P., additional, Liodakis, E., additional, Gatzoulis, M., additional, Li, W., additional, Dimopoulos, K., additional, Sadron, M., additional, Seguela, P. E., additional, Arnaudis, B., additional, Dulac, Y., additional, Cognet, T., additional, Acar, P., additional, Shiina, Y., additional, Uemura, H., additional, Kupczynska, K., additional, Kasprzak, J., additional, Michalski, B., additional, Lipiec, P., additional, Carvalho, V., additional, Almeida, A. M. G., additional, David, C., additional, Marques, J., additional, Ferreira, P., additional, Amaro, M., additional, Costa, P., additional, Diogo, A., additional, Tritakis, V., additional, Ikonomidis, I., additional, Lekakis, J., additional, Tzortzis, S., additional, Kadoglou, N., additional, Papadakis, I., additional, Trivilou, P., additional, Koukoulis, C., additional, Anastasiou-Nana, M., additional, Bombardini, T., additional, Gherardi, S., additional, Arpesella, G., additional, Maccherini, M., additional, Serra, W., additional, Magnani, G., additional, Del Bene, R., additional, Pasanisi, E., additional, Startari, U., additional, Panchetti, L., additional, Rossi, A., additional, Piacenti, M., additional, Morales, M., additional, El Hajjaji, I., additional, El Mahmoud, R., additional, Digne, F., additional, Dubourg, O., additional, Agoston, G., additional, Moreo, A., additional, Pratali, L., additional, Moggi Pignone, A., additional, Pavellini, A., additional, Doveri, M., additional, Musca, F., additional, Varga, A., additional, Faita, F., additional, Rimoldi, S., additional, Sartori, C., additional, Alleman, Y., additional, Salinas Salmon, C., additional, Villena, M., additional, Scherrer, U., additional, Baptista, R., additional, Serra, S., additional, Castro, G., additional, Martins, R., additional, Salvador, M., additional, Monteiro, P., additional, Silva, J., additional, Szudi, L., additional, Temesvary, A., additional, Fekete, B., additional, Kassai, I., additional, Szekely, L., additional, Abdel Moneim, S. S., additional, Martinez, M., additional, Mankad, S., additional, Bernier, M., additional, Dhoble, A., additional, Chandrasekaran, K., additional, Oh, J., additional, Mulvagh, S., additional, Hong, G. R., additional, Kim, J. Y., additional, Lee, S. C., additional, Choi, S. H., additional, Sohn, I. S., additional, Seo, H. S., additional, Choi, J. H., additional, Cho, K. I., additional, Yoon, S. J., additional, Lim, S. J., additional, Wejner-Mik, P., additional, Kusmierek, J., additional, Plachcinska, A., additional, Szuminski, R., additional, Stoebe, S., additional, Tarr, A., additional, Trache, T., additional, Hagendorff, A., additional, Jenkins, C., additional, Kuhl, H., additional, Nesser, H., additional, Marwick, T., additional, Franke, A., additional, Niel, J., additional, Sugeng, L., additional, Soderberg, S., additional, Lindqvist, P., additional, Necas, J., additional, Kovalova, S., additional, Saha, S. K., additional, Kiotsekoglou, A., additional, Toole, R., additional, Govind, S., additional, Gopal, A., additional, Amzulescu, M.-S., additional, Florian, A., additional, Bogaert, J., additional, Janssens, S., additional, Voigt, J., additional, Parisi, V., additional, Losi, M., additional, Parrella, L., additional, Contaldi, C., additional, Chiacchio, E., additional, Caputi, A., additional, Scatteia, A., additional, Buonauro, A., additional, Betocchi, S., additional, Rimbas, R., additional, Mihaila, S., additional, Caputo, M., additional, Navarri, R., additional, Innelli, P., additional, Urselli, R., additional, Capati, E., additional, Ballo, P., additional, Furiozzi, F., additional, Favilli, R., additional, Lindquist, R., additional, Miller, A., additional, Reece, C., additional, O'leary, P., additional, Cetta, F., additional, Eidem, B. W., additional, Cikes, M., additional, Gasparovic, H., additional, Bijnens, B., additional, Velagic, V., additional, Kopjar, T., additional, Biocina, B., additional, Milicic, D., additional, Ta-Shma, A., additional, Nir, A., additional, Perles, Z., additional, Gavri, S., additional, Golender, J., additional, Rein, A., additional, Pinnacchio, G., additional, Barone, L., additional, Battipaglia, I., additional, Cosenza, A., additional, Marinaccio, L., additional, Coviello, I., additional, Scalone, G., additional, Sestito, A., additional, Lanza, G., additional, Crea, F., additional, Cakal, S., additional, Eroglu, E., additional, Ozkan, B., additional, Kulahcioglu, S., additional, Bulut, M., additional, Koyuncu, A., additional, Acar, G., additional, Alici, G., additional, Dundar, C., additional, Labombarda, F., additional, Zangl, E., additional, Pellissier, A., additional, Bougle, D., additional, Maragnes, P., additional, Milliez, P., additional, Saloux, E., additional, Lagoudakou, S., additional, Gialafos, E., additional, Tsokanis, A., additional, Nagy, A., additional, Kovats, T., additional, Vago, H., additional, Toth, A., additional, Sax, B., additional, Kovacs, A., additional, Elnoamany, M. F., additional, Badran, H., additional, Abdelfattah, I., additional, Khalil, T., additional, Salama, M., additional, Butz, T., additional, Taubenberger, C., additional, Thangarajah, F., additional, Meissner, A., additional, Van Bracht, M., additional, Prull, M., additional, Yeni, H., additional, Plehn, G., additional, Trappe, H., additional, Rydman, R., additional, Bone, D., additional, Alam, M., additional, Caidahl, K., additional, Larsen, F., additional, Gasior, Z., additional, Tabor, Z., additional, Sengupta, P., additional, Liu, D., additional, Niemann, M., additional, Hu, K., additional, Herrmann, S., additional, Stoerk, S., additional, Morbach, C., additional, Knop, S., additional, Voelker, W., additional, Ertl, G., additional, Weidemann, F., additional, Cawley, P., additional, Hamilton-Craig, C., additional, Mitsumori, L., additional, Maki, J., additional, Otto, C., additional, Astrom Aneq, M., additional, Nylander, E., additional, Ebbers, T., additional, Engvall, J., additional, Arvanitis, P., additional, Flachskampf, F., additional, Duvernoy, O., additional, De Torres Alba, F., additional, Valbuena Lopez, S., additional, Guzman Martinez, G., additional, Gomez De Diego, J., additional, Rey Blas, J., additional, Armada Romero, E., additional, Lopez De Sa, E., additional, Moreno Yanguela, M., additional, Lopez Sendon, J., additional, Trikalinos, N., additional, Siasos, G., additional, Aggeli, A., additional, Tomaszewski, A., additional, Kutarski, A., additional, Tomaszewski, M., additional, Vriz, O., additional, Driussi, C., additional, Bettio, M., additional, Pavan, D., additional, Antonini Canterin, F., additional, Doltra Magarolas, A., additional, Fernandez-Armenta, J., additional, Silva, E., additional, Solanes, N., additional, Rigol, M., additional, Barcelo, A., additional, Mont, L., additional, Berruezo, A., additional, Brugada, J., additional, Sitges, M., additional, Ciciarello, F. L., additional, Mandolesi, S., additional, Fedele, F., additional, Agati, L., additional, Marceca, A., additional, Rhee, S., additional, Shin, S., additional, Kim, S., additional, Yun, K., additional, Yoo, N., additional, Kim, N., additional, Oh, S., additional, Jeong, J., additional, and Alabdulkarim, N., additional

Published
2011
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11. Poster Session 1: Thursday 8 December 2011, 08:30-12:30 * Location: Poster Area

Author

Vijayan, S., primary, Khanji, M., additional, Ionescu, A., additional, Vijayan, S., additional, Podoleanu, C., additional, Frigy, A., additional, Ugri, A., additional, Varga, A., additional, Podoleanu, D., additional, Incze, A., additional, Carasca, E., additional, Dobreanu, D., additional, Mjolstad, O., additional, Dalen, H., additional, Graven, T., additional, Kleinau, J., additional, Hagen, B., additional, Fu, H., additional, Liu, T., additional, Li, J., additional, Liu, C., additional, Zhou, C., additional, Li, G., additional, Bordese, R., additional, Capriolo, M., additional, Brero, D., additional, Salvetti, I., additional, Cannillo, M., additional, Antolini, M., additional, Grosso Marra, W., additional, Frea, S., additional, Morello, M., additional, Gaita, F., additional, Maffessanti, F., additional, Caiani, E., additional, Muraru, D., additional, Tuveri, F., additional, Dal Bianco, L., additional, Badano, L., additional, Majid, A., additional, Soesanto, A., additional, Ario Suryo Kuncoro, B., additional, Sukmawan, R., additional, Ganesja, M. H., additional, Benedek, T., additional, Chitu, M., additional, Beata, J., additional, Suciu, Z., additional, Kovacs, I., additional, Bucur, O., additional, Benedek, I., additional, Hrynkiewicz-Szymanska, A., additional, Szymanski, F., additional, Karpinski, G., additional, Filipiak, K., additional, Radunovic, Z., additional, Lande Wekre, L., additional, Steine, K., additional, Bech-Hanssen, O., additional, Rundqvist, B., additional, Lindgren, F., additional, Selimovic, N., additional, Jedrzychowska-Baraniak, J., additional, Jozwa, R., additional, Larysz, B., additional, Kasprzak, J., additional, Ripp, T., additional, Mordovin, V., additional, Ripp, E., additional, Ciobanu, A., additional, Dulgheru, R., additional, Dragoi, R., additional, Magda, S., additional, Florescu, M., additional, Mihaila, S., additional, Rimbas, R., additional, Cinteza, M., additional, Vinereanu, D., additional, Benavides-Vallve, C., additional, Pelacho, B., additional, Iglesias, O., additional, Castano, S., additional, Munoz-Barrutia, A., additional, Prosper, F., additional, Ortiz De Solorzano, C., additional, Manouras, A., additional, Sahlen, A., additional, Winter, R., additional, Vardas, P., additional, Brodin, L., additional, Sarvari, S. I., additional, Haugaa, K. H., additional, Zahid, W., additional, Bendz, B., additional, Aaberge, L., additional, Edvardsen, T., additional, Di Bella, G., additional, Pedri, S., additional, Donato, R., additional, Madaffari, A., additional, Zito, C., additional, Stapf, D., additional, Schreckenberg, M., additional, Carerj, S., additional, Yoshikawa, H., additional, Suzuki, M., additional, Kusunose, Y., additional, Hashimoto, G., additional, Otsuka, T., additional, Nakamura, M., additional, Sugi, K., additional, Grapsa, J., additional, Dawson, D., additional, Gin-Sing, W., additional, Howard, L., additional, Gibbs, J., additional, Nihoyannopoulos, P., additional, Smith, B., additional, Coulter, T., additional, Rendon, A., additional, Gorissen, W., additional, Shiran, A., additional, Asmer, I., additional, Adawi, S., additional, Ganaeem, M., additional, Shehadeh, J., additional, Cameli, M., additional, Lisi, M., additional, Righini, F., additional, Maccherini, M., additional, Sani, G., additional, Galderisi, M., additional, Mondillo, S., additional, Kalimanovska-Ostric, D., additional, Nastasovic, T., additional, Jovanovic, I., additional, Milakovic, B., additional, Dostanic, M., additional, Stosic, M., additional, Sasic, I., additional, Sveen, K., additional, Nerdrum, T., additional, Hanssen, K., additional, Dahl-Jorgensen, K., additional, Holte, E., additional, Vegsundvaag, J., additional, Hole, T., additional, Hegbom, K., additional, Wiseth, R., additional, Ikonomidis, I., additional, Lekakis, J., additional, Tritakis, V., additional, Papadakis, I., additional, Kadoglou, N., additional, Tzortzis, S., additional, Trivilou, P., additional, Koukoulis, C., additional, Paraskevaidis, I., additional, Anastasiou-Nana, M., additional, Smedsrud, M. K., additional, Sarvari, S., additional, Gjesdal, O., additional, Beraldo, M., additional, Solda', E., additional, Cucchini, U., additional, Peluso, D., additional, Tuveri, M., additional, Al Mamary, A., additional, Iliceto, S., additional, Dores, H., additional, Abecasis, J., additional, Carvalho, M., additional, Santos, M., additional, Andrade, M., additional, Ribeiras, R., additional, Reis, C., additional, Horta, E., additional, Gouveia, R., additional, Mendes, M., additional, Zaliaduonyte-Peksiene, D., additional, Mizariene, V., additional, Cesnaite, G., additional, Tamuleviciute, E., additional, Jurkevicius, R., additional, Vaskelyte, J., additional, Zaliunas, R., additional, Smarz, K., additional, Zaborska, B., additional, Jaxa-Chamiec, T., additional, Maciejewski, P., additional, Budaj, A., additional, Trifunovic, D., additional, Sobic-Saranovic, D., additional, Stankovic, S., additional, Ostojic, M., additional, Vujisic-Tesic, B., additional, Petrovic, M., additional, Nedeljkovic, I., additional, Banovic, M., additional, Tesic, M., additional, Petrovic, I., additional, Peovska, I., additional, Srbinovska, E., additional, Maksimovic, J., additional, Andova, V., additional, Arnaudova, F., additional, Hristova, E., additional, Otljanska, M., additional, Vavlukis, M., additional, Jovanova, S., additional, Tamborini, G., additional, Fusini, L., additional, Gripari, P., additional, Muratori, M., additional, Pontone, G., additional, Andreini, D., additional, Bertella, E., additional, Ghulam Ali, S., additional, Bartorelli, A., additional, Pepi, M., additional, Cusma-Piccione, M., additional, Salvia, J., additional, Antonini-Canterin, F., additional, Lentini, S., additional, Donato, D., additional, Miceli, M., additional, Oreto, G., additional, Sachner, R., additional, Rubinshtein, R., additional, Shnapp, M., additional, Gaspar, T., additional, Marchese, A., additional, Deste, W., additional, Sanfilippo, A., additional, Aruta, P., additional, Patane, M., additional, Millan, G., additional, Ussia, G., additional, Tamburino, C., additional, Kujacic, V., additional, Obradovic, S., additional, Crkvenac, Z., additional, Bernard, A., additional, Piquemal, M., additional, Muller, G., additional, Arbeille, P., additional, Charbonnier, B., additional, Broyd, C., additional, Davies, J., additional, Mikhail, G., additional, Mayet, J., additional, Francis, D., additional, Rosca, M., additional, Magne, J., additional, Szymanski, C., additional, Popescu, B., additional, Ginghina, C., additional, Pierard, L., additional, Lancellotti, P., additional, Gonzalez-Mansilla, A., additional, Solis, J., additional, Angulo, R., additional, Perez-David, E., additional, Madrid, G., additional, Garcia-Robles, J., additional, Yotti, R., additional, Prieto, R., additional, Bermejo, J., additional, Fernandez-Aviles, F., additional, Ishikawa, Y., additional, Ishida, T., additional, Osaki, T., additional, Matsuyama, M., additional, Yamashita, H., additional, Ozaki, S., additional, Stevanella, M., additional, Votta, E., additional, Veronesi, F., additional, Alamanni, F., additional, Redaelli, A., additional, Park, S. D., additional, Lee, J., additional, Shin, S., additional, Woo, S., additional, Kim, D., additional, Park, K., additional, Kwan, J., additional, Tsang, W., additional, Chandra, S., additional, Weinert, L., additional, Gayat, E., additional, Djelassi, M., additional, Balbach, T., additional, Mor-Avi, V., additional, Lang, R., additional, De Meester, P., additional, Van De Bruaene, A., additional, Delcroix, M., additional, Budts, W., additional, Abid, L., additional, Frikha, Z., additional, Makni, K., additional, Rekik, H., additional, Znazen, A., additional, Mourad, H., additional, Kammoun, S., additional, Sargento, L., additional, Satendra, M., additional, Sousa, C., additional, Lopes, S., additional, Longo, S., additional, Lousada, N., additional, Palma Reis, R., additional, Fouad, D., additional, Shams Eldeen, R., additional, Beladan, C., additional, Calin, A., additional, Voinea, F., additional, Enache, R., additional, Jurcut, R., additional, Coman, I., additional, Ghionea, M., additional, Djordjevic-Dikic, A., additional, Petrovic, O., additional, Boricic, M., additional, Giga, V., additional, Pisciella, L., additional, Lanzillo, C., additional, Minati, M., additional, Caselli, S., additional, Di Roma, M., additional, Fratini, S., additional, Romano, S., additional, Calo', L., additional, Lioy, E., additional, Penco, M., additional, Finocchiaro, G., additional, Pinamonti, B., additional, Merlo, M., additional, Barbati, G., additional, Sinagra, G., additional, Dilenarda, A., additional, Comenale Pinto, S., additional, Ancona, R., additional, Caso, P., additional, Cavallaro, C., additional, Vecchione, F., additional, D'onofrio, A., additional, Fero', M., additional, Calabro', R., additional, Gustafsson, S., additional, Ihse, E., additional, Henein, M., additional, Westermark, P., additional, Suhr, O., additional, Lindqvist, P., additional, Oliva Sandoval, M., additional, Gonzalez Carrillo, M., additional, Garcia Navarro, M., additional, Garcia-Molina Saez, E., additional, Sabater Molina, M., additional, Saura Espin, D., additional, Lacunza Ruiz, J., additional, Gimeno Blanes, J., additional, De La Morena Valenzuela, G., additional, Valdes Chavarri, M., additional, Prinz, C., additional, Faber, L., additional, Horstkotte, D., additional, Hoetz, H., additional, Voigt, J., additional, Gandara, F., additional, Correia, M., additional, Rosario, I., additional, Fonseca, C., additional, Arroja, I., additional, Aleixo, A., additional, Martins, A., additional, Radulescu, L., additional, Dan Radulescu, D., additional, Parv Andreea, P., additional, Duncea Caius, D., additional, Ciuleanu T, C., additional, Mitrea Paulina, M., additional, Cali Quaglia, F., additional, Ribezzo, M., additional, Boffini, M., additional, Rinaldi, M., additional, Maceira Gonzalez, A. M., additional, Cosin-Sales, J., additional, Dalli, E., additional, Diago, J., additional, Aguilar, J., additional, Ruvira, J., additional, Goncalves, S., additional, Gomes, A., additional, Pinto, F., additional, Tsai, W.-C., additional, Liu, Y.-W., additional, Shih, J.-Y., additional, Huang, Y.-Y., additional, Chen, J.-Y., additional, Tsai, L.-M., additional, Chen, J.-H., additional, Ribeiro, S., additional, Doroteia, D., additional, Santos, L., additional, David, C., additional, Vinhas De Sousa, G., additional, Almeida, A., additional, Iwase, M., additional, Itou, Y., additional, Yasukochi, S., additional, Shiino, K., additional, Inuzuka, H., additional, Sugimoto, K., additional, Ozaki, Y., additional, Gieszczyk-Strozik, K., additional, Sikora-Puz, A., additional, Mizia, M., additional, Lasota, B., additional, Chmiel, A., additional, Lis-Swiety, A., additional, Michna, J., additional, Brzezinska-Wcislo, L., additional, Mizia-Stec, K., additional, Gasior, Z., additional, Luijendijk, P., additional, De Bruin-Bon, H., additional, Zwiers, C., additional, Vriend, J., additional, Van Den Brink, R., additional, Mulder, B., additional, Bouma, B., additional, Brigido, S., additional, Gianfagna, P., additional, Proclemer, A., additional, Plicht, B., additional, Kahlert, P., additional, Kaelsch, H., additional, Buck, T., additional, Erbel, R., additional, Konorza, T., additional, Yoon, H., additional, Kim, K., additional, Ahn, Y., additional, Jeong, M., additional, Cho, J., additional, Park, J., additional, Kang, J., additional, Rha, W., additional, Jansen Klomp, W. W., additional, Brandon Bravo Bruinsma, G., additional, Van 'T Hof, A., additional, Spanjersberg, S., additional, Nierich, A., additional, Bombardini, T., additional, Gherardi, S., additional, Picano, E., additional, Ciarka, A., additional, Herbots, L., additional, Eroglu, E., additional, Van Cleemput, J., additional, Droogne, W., additional, Jasityte, R., additional, Meyns, B., additional, D'hooge, J., additional, Vanhaecke, J., additional, Al Barjas, M., additional, Iskreva, R., additional, Morris, R., additional, Davar, J., additional, Zhao, Y., additional, Holmgren, A., additional, Morner, S., additional, Stepanovic, J., additional, Beleslin, B., additional, Nedeljkovic, M., additional, Mazic, S., additional, Stojanov, V., additional, Piatkowski, R., additional, Kochanowski, J., additional, Scislo, P., additional, Grabowski, M., additional, Marchel, M., additional, Roik, M., additional, Kosior, D., additional, Opolski, G., additional, Tomaszewski, A., additional, Kutarski, A., additional, Tomaszewski, M., additional, Eibel, S., additional, Hasheminejad, E., additional, Mukherjee, C., additional, Tschernich, H., additional, Ender, J., additional, Delithanasis, I., additional, Celutkiene, J., additional, Kenny, C., additional, Monaghan, M., additional, Van Den Oord, S., additional, Ten Kate, G., additional, Akkus, Z., additional, Renaud, G., additional, Sijbrands, E., additional, Ten Cate, F., additional, De Jong, N., additional, Bosch, J., additional, Van Der Steen, A., additional, Schinkel, A., additional, Lisowska, A., additional, Knapp, M., additional, Tycinska, A., additional, Sawicki, R., additional, Kralisz, P., additional, Sobkowicz, B., additional, Chang, S.-A., additional, Lee, S.-C., additional, Kim, E.-Y., additional, Hahm, S.-H., additional, Ahn, G.-T., additional, Sohn, M.-K., additional, Park, S.-J., additional, Choi, J.-O., additional, Park, S.-W., additional, Oh, J.-K., additional, Gursoy, M. O., additional, Gokdeniz, T., additional, Astarcioglu, M., additional, Bayram, Z., additional, Cakal, B., additional, Karakoyun, S., additional, Kalcik, M., additional, Kahveci, G., additional, Yildiz, M., additional, Ozkan, M., additional, Skidan, V., additional, Borowski, A., additional, Park, M., additional, Thomas, J., additional, Ranjbar, S., additional, Hassantash, S., additional, Karvandi, M., additional, Foroughi, M., additional, Davidsen, E. S., additional, Cramariuc, D., additional, Bleie, O., additional, Gerdts, E., additional, Matre, K., additional, Cusma' Piccione, M., additional, Bagnato, G., additional, Mohammed, M., additional, Piluso, S., additional, Oreto, L., additional, Bitter, T., additional, Carvalho, S., additional, Canada, M., additional, Santisteban Sanchez De Puerta, M., additional, Mesa Rubio, M. D., additional, Ruiz Ortiz, M., additional, Delgado Ortega, M., additional, Pena Pena, M. L., additional, Puentes Chiachio, M., additional, Suarez De Lezo Cruz-Conde, J., additional, Pan Alvarez-Ossorio, M., additional, Mazuelos Bellido, F., additional, Suarez De Lezo Herreros De Tejada, J., additional, Altekin, E., additional, Yanikoglu, A., additional, Karakas, S., additional, Oncel, C., additional, Akdemir, B., additional, Belgi Yildirim, A., additional, Cilli, A., additional, Yilmaz, H., additional, Lenartowska, L., additional, Furdal, M., additional, Knysz, B., additional, Konieczny, A., additional, Lewczuk, J., additional, Severino, S., additional, Cavallaro, M., additional, Coppola, M., additional, Motoki, H., additional, To, A., additional, Bhargava, M., additional, Wazni, O., additional, Marwick, T., additional, Klein, A., additional, Sinkovskaya, E., additional, Horton, S., additional, Abuhamad, A., additional, Mingo Santos, S., additional, Monivas Palomero, V., additional, Beltran Correas, B., additional, Mitroi, C., additional, Gutierrez Landaluce, C., additional, Garcia Lunar, I., additional, Gonzalez Mirelis, J., additional, Cavero, M., additional, Segovia Cubero, J., additional, Alonso Pulpon, L., additional, Gurel, E., additional, Karaahmet, T., additional, Tigen, K., additional, Kirma, C., additional, Dundar, C., additional, Pala, S., additional, Isiklar, I., additional, Cevik, C., additional, Kilicgedik, A., additional, Basaran, Y., additional, Brambatti, M., additional, Romandini, A., additional, Barbarossa, A., additional, Molini, S., additional, Urbinati, A., additional, Giovagnoli, A., additional, Cipolletta, L., additional, Capucci, A., additional, Park, S., additional, Choi, E., additional, Ahn, C., additional, Hong, S., additional, Kim, M., additional, Lim, D., additional, Shim, W., additional, Xie, J., additional, Fang, F., additional, Zhang, Q., additional, Chan, J., additional, Yip, G., additional, Sanderson, J., additional, Lam, Y., additional, Yan, B., additional, Yu, C., additional, Jorge Perez, P., additional, De La Rosa Hernandez, A., additional, Hernandez Garcia, C., additional, Duque Garcia, A., additional, Barragan Acea, A., additional, Arroyo Ucar, E., additional, Jimenez Rivera, J., additional, Lacalzada Almeida, J., additional, Laynez Cerdena, I., additional, Carminati, C., additional, Capoulade, R., additional, Larose, E., additional, Clavel, M., additional, Dumesnil, J., additional, Arsenault, M., additional, Bedard, E., additional, Mathieu, P., additional, Pibarot, P., additional, Gargani, L., additional, Baldi, G., additional, Forfori, F., additional, Caramella, D., additional, D'errico, L., additional, Abramo, A., additional, Sicari, R., additional, Giunta, F., additional, Lee, W.-N., additional, Larrat, B., additional, Messas, E., additional, Pernot, M., additional, Tanter, M., additional, Velagic, V., additional, Cikes, M., additional, Matasic, R., additional, Skorak, I., additional, Samardzic, J., additional, Puljevic, D., additional, Lovric Bencic, M., additional, Biocina, B., additional, Milicic, D., additional, Roosens, B., additional, Bala, G., additional, Droogmans, S., additional, Hostens, J., additional, Somja, J., additional, Delvenne, E., additional, Schiettecatte, J., additional, Lahoutte, T., additional, Van Camp, G., additional, Cosyns, B., additional, Ghosh, A., additional, Hardy, R., additional, Chaturvedi, N., additional, Deanfield, J., additional, Pellerin, D., additional, Kuh, D., additional, Hughes, A., additional, Malmgren, A., additional, Dencker, M., additional, Stagmo, M., additional, Gudmundsson, P., additional, Seo, Y., additional, Ishizu, T., additional, Aonuma, K., additional, Schuuring, M. J., additional, Vis, J., additional, Van Dijk, A., additional, Van Melle, J., additional, Pieper, P., additional, Vliegen, H., additional, Sieswerda, G., additional, Foukarakis, E., additional, Pitarokilis, A., additional, Kafarakis, P., additional, Kiritsi, A., additional, Klironomos, E., additional, Manousakis, A., additional, Fragiadaki, X., additional, Papadakis, E., additional, and Dermitzakis, A., additional

Published
2011
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20. Analyse des manifestations oculaires associées à la néphronophtise et étude génétique chez trois familles tunisiennes

Author

Sellami, D., primary, Makni, K., additional, Chaker, H., additional, Kharrat, M., additional, Hentati, N., additional, Kammoun, K., additional, Chabouni, F., additional, Ben Hamida, M., additional, Hachicha, J., additional, Salomon, R., additional, Antignac, C., additional, Ayadi, H., additional, and Feki, J., additional

Published
2006
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21. Autosomal dominant Alport's syndrome: study of a large Tunisian family

Author

Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Ben Hmida M, Marie-Claire Gubler, Ayadi H, and Hachicha J

Subjects
Adult, Collagen Type IV, Male, Tunisia, Adolescent, Incidence, Nephritis, Hereditary, DNA, Middle Aged, Kidney, Autoantigens, Immunohistochemistry, Polymerase Chain Reaction, Pedigree, Epitopes, Microscopy, Electron, Phenotype, Mutation, Humans, Kidney Failure, Chronic, Female, Child, Follow-Up Studies
Abstract

Alport's syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport's syndrome is often associated with sensorineural deafness and/or ocular abnormalities. In contrast with the well-known X-linked phenotype, very little is known about the autosomal dominant form caused by mutations in COL4A3 and COL4A4 in the chromosome region 2q35-q37. We describe a Tunisian family with autosomal dominant Alport's syndrome in which males and females were equally affected. Two members reached ESRD at age 40 and 53 years, respectively. Three members experienced isolated microhematuria and one member experienced sensorineural deafness. No eye abnormalities were observed. Immunohistochemical studies showed a normal distribution of the alpha5 (type IV collagen) chain in the epidermal basement membrane. Genetic analysis demonstrated that a common haplotype co-segregated with the disease in the heterozygous state in all affected patients, thereby, confirming an autosomal dominant mode of inheritance. The same haplotype was observed in two asymptomatic children. We conclude that autosomal dominant Alport's syndrome, follows a rare mode of inheritance and exhibits a milder phenotype than usually observed in classic X-linked Alport's syndrome. The frequency of this mode of inheritance should be confirmed by a larger study.

22. Development and Evaluation of the Wound Healing Effect of a Novel Topical Cream Formula Based on Ginkgo biloba Extract on Wounds in Diabetic Rats.

Author

Bardaa S, Makni K, Boudaouara O, Bardaa T, Ktari N, Hachicha S, Ben Salah R, Kallel R, Sahnoun Z, and Boufi S

Subjects
Administration, Topical, Animals, Diabetes Mellitus, Experimental complications, Diabetes Mellitus, Experimental pathology, Disease Models, Animal, Male, Rats, Rats, Wistar, Skin pathology, Diabetes Mellitus, Experimental drug therapy, Ginkgo biloba chemistry, Plant Extracts pharmacology, Skin drug effects, Skin Cream pharmacology, Wound Healing drug effects
Abstract

Despite advances in diabetes care, impaired diabetic wound healing remains a significant clinical problem. The present study was aimed at developing a novel cream based on Ginkgo biloba extract and investigating its wound healing effect on full-thickness wounds in diabetic rats. The topical formulated oil-in-water emulsion-based cream contains Ginkgo biloba aqueous extract in an amount of about 1% to 5% as an active agent. The prepared formula was subjected to physicochemical assessment and pharmacotechnical characterization. Eighteen alloxan-induced diabetic rats completing full-thickness excisional skin wounds were randomly divided into three groups topically treated with either a normal saline (control group), the reference drug ("Cytol Centella cream®"), and cream based on the Ginkgo biloba extract. The response to treatment was assessed by macroscopic, qualitative, and quantitative histopathological analysis. The prepared formula showed good physicochemical properties. The rheological behavior of the prepared cream followed a non-Newtonian pseudoplastic pattern at different storage temperatures. The cream, which is a macroemulsion with uniform size distribution, remained stable for 6 months. Skin tolerance studies confirmed the compatibility of the cream with the skin. During the experimental trial, the cream based on the Ginkgo biloba -treated group showed significant improvements over the control and reference groups for both general wound appearance and healing dynamics. This increased rate of closure of wounds in diabetic rats was associated with increased collagen synthesis. Our findings showed that the cream could be a promising and innovative topical treatment with Ginkgo biloba extract for the management of acute diabetic wounds., Competing Interests: The authors declare no conflict of interest that could have influenced the work reported in this paper., (Copyright © 2021 Sana Bardaa et al.)

Published
2021
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23. [Uterine leiomyosarcoma of seven kilograms].

Author

Kehila M and Makni K

Subjects
Fatal Outcome, Female, Humans, Leiomyosarcoma diagnostic imaging, Middle Aged, Neoplasm Invasiveness, Postoperative Complications pathology, Radiography, Sigmoid Neoplasms secondary, Ultrasonography, Uterine Neoplasms diagnostic imaging, Leiomyosarcoma pathology, Tumor Burden, Uterine Neoplasms pathology
Published
2014
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24. Association of genetic variations in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 with Type 2 diabetes mellitus in Tunisia.

Author

Kifagi C, Makni K, Boudawara M, Mnif F, Hamza N, Abid M, Granier C, and Ayadi H

Subjects
Aged, Cation Transport Proteins genetics, Genome-Wide Association Study, Genotype, Homeodomain Proteins genetics, Humans, Middle Aged, N-Acetylglucosaminyltransferases genetics, Transcription Factor 7-Like 2 Protein genetics, Transcription Factors genetics, Tunisia, Zinc Transporter 8, Diabetes Mellitus, Type 2 genetics, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
Abstract

Aim: In recent genome-wide association studies, genetic variants in TCF7L2, SLC30A8, HHEX, LOC387761, and EXT2 were associated with risk for type 2 diabetes mellitus (T2DM). We aimed at investigating the association of these single-nucleotide polymorphisms (SNPs) with T2DM and defining their corresponding allelic and genotypic combinations in the Tunisian population. We also tried to determine the effect of R325W of SLC30A8 on the modeled structural properties of the protein., Methods: Five SNPs were genotyped in 331 T2DM Tunisian patients and 403 healthy subjects by polymerase chain reaction-restriction fragment length polymorphism. A model of residues 318-366 of the SLC30A8 protein was built by homology modeling., Results: LOC387761 provided the strongest evidence for replication, where rs7480010 presented a risk of 2.41 with T2DM, followed by rs1111875 in HHEX (odds ratio=1.95) and rs13266634 in SLC30A8 (odds ratio=1.59). None of the two other SNPs previously reported was associated. The highest risk of T2DM was 3.1, obtained by the genotype combination of the three associated SNPs. Modeling of the cytoplasmic part of the SLC30A8 protein showed that the R325W change might affect the electrostatic potential of the SLC30A8 protein., Conclusion: We concluded that the SLC30A8, HHEX, and LOC387761 are more likely to represent the genuine signals of T2DM in the Tunisian population.

Published
2011
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25. Renal alpha-smooth muscle actin: a new prognostic factor for lupus nephritis.

Author

Makni K, Jarraya F, Khabir A, Hentati B, Hmida MB, Makni H, Boudawara T, Jlidi R, Hachicha J, and Ayadi H

Subjects
Biopsy, Fibrosis, Humans, Immunohistochemistry, Kidney pathology, Lupus Nephritis pathology, Prognosis, Actins analysis, Kidney chemistry, Lupus Nephritis metabolism
Abstract

Aim: Systemic lupus erythematosus (SLE) is the prototype of autoimmune disease where renal involvement is frequent and always severe. Histological prognostic factors proposed for lupus nephritis (LN) including the World Health Organization and International Society of Nephrology/Renal Pathology Society--Working Group on the Classification classifications, active (AI) and chronicity (CI) indices may not predict response to treatment. The aim of this study was to correlate alpha-smooth muscle actin (alpha-SMA) expression, an early marker of glomerular and interstitial response to injury, to AI and CI, renal scarring progression and response to treatment., Methods: Fifty-seven kidney biopsy specimens obtained from 32 patients suffering from LN were studied. Twenty patients with class IV LN at first biopsy were identified to study renal progression to chronic renal failure until the use of immunosuppressive treatment., Results: Interstitial alpha-SMA (I-alpha-SMA) was correlated only with CI (P < 0.001) whereas mesangial alpha-SMA (M-alpha-SMA) was correlated with neither LN activity (P = 0.126) nor sclerosis (P = 0.297). Only I-alpha-SMA was correlated with renal failure (P = 0.01). We divided patients with class IV LN into progressors and non-progressors based on the slope of serum creatinine. At first biopsy, M-alpha-SMA and I-alpha-SMA, but not AI and CI, were correlated with renal failure progression (M-alpha-SMA, 9.7b1.1 vs 7.8b1.4, P = 0.004; and I-alpha-SMA, 9.3b1.1 vs 6.5b3.2, P = 0.011)., Conclusion: The study data highlight that I-alpha-SMA immunostain in class IV LN patients was correlated with chronicity indices. Moreover, M-alpha-SMA and I-alpha-SMA expression in first biopsy predicted renal progression modality. alpha-SMA expression may therefore be a useful marker to predict renal prognosis in LN.

Published
2009
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26. A potential role of TNFR gene polymorphisms in autoimmune thyroid diseases in the Tunisian population.

Author

Kammoun-Krichen M, Bougacha-Elleuch N, Makni K, Mnif M, Jouida J, Abid M, Rebai A, and Ayadi H

Subjects
Alleles, Humans, Tunisia epidemiology, Polymorphism, Genetic genetics, Receptors, Tumor Necrosis Factor genetics, Thyroiditis, Autoimmune epidemiology, Thyroiditis, Autoimmune genetics
Abstract

Autoimmune thyroid diseases (AITDs) including Graves disease (GD) and autoimmune hypothyroidism (AH) are associated with TNF genes polymorphisms. TNF molecules bind to TNFRI and TNFRII. No genetic association was reported between TNFR and AITDs. In this study, we have analysed two polymorphisms in TNFRI gene (TNFRI+36A/G SNP and a microsatellite (GT)(17) (GA)(n)) and one polymorphism in TNFRII gene (TNFRII +676 T/G). All these polymorphisms were studied in a large Tunisian family with high prevalence of AITDs, and on a case-control sample of 91 GD patients and 165 controls. The present study was undertaken to investigate the genetic association of these polymorphisms with AITDs development. We reported the implication of TNFRIA3 allele in AITDs pathogenesis in familial and case control studies, respectively (chi(2)=4.13, p=0.042; chi(2)=9.26, p(c)=0.005). In addition, Case-control study has revealed for the first time that TNFRII+676G allele was associated with GD (chi(2)=11.53; p=0.0007). Two TNFRI haplotypes were found to be associated with GD: TNFRI+36G-A8, TNFRI+36A-A3 (chi(2)=88.07; p=6.32x10(-21), chi(2)=16.78; p=4.2x10(-5), respectively). Our data showed that TNFRI polymorphisms have an important role in AITDs pathogenesis in both familial and case-control samples and that TNFRII was rather implicated in GD development in the Tunisian population.

Published
2008
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27. [Ocular findings in Alport syndrome: 32 case studies].

Author

Hentati N, Sellami D, Makni K, Kharrat M, Hachicha J, Hammadi A, and Feki J

Subjects
Adolescent, Adult, Aged, Cataract epidemiology, Cataract etiology, Cataract genetics, Corneal Diseases epidemiology, Corneal Diseases etiology, Corneal Diseases genetics, Eye Diseases epidemiology, Eye Diseases genetics, Female, Genes, Dominant, Genes, Recessive, Genes, X-Linked, Humans, Lens Diseases epidemiology, Lens Diseases etiology, Lens Diseases genetics, Male, Middle Aged, Nephritis, Hereditary epidemiology, Nephritis, Hereditary genetics, Retinal Diseases epidemiology, Retinal Diseases etiology, Retinal Diseases genetics, Retinitis Pigmentosa epidemiology, Retinitis Pigmentosa etiology, Retinitis Pigmentosa genetics, Tunisia epidemiology, Vision Disorders epidemiology, Vision Disorders etiology, Vision Disorders genetics, Visual Acuity, Young Adult, Eye Diseases etiology, Lens, Crystalline abnormalities, Nephritis, Hereditary pathology
Abstract

Background: Alport syndrome is an inherited disease resulting in kidney failure, hearing loss, and ocular abnormalities. The purpose of this study was to describe the incidence and type of ocular abnormalities and to determine inheritance of this syndrome in our population., Patients and Methods: A total of 32 patients, from ten different families in South Tunisia, underwent a complete ocular examination. Inheritance was determined using pedigrees and genotyping., Results: The best corrected visual acuity was 7.6/10. Biomicroscopy showed polymorphous dystrophy in 3%, anterior lenticonus in 28%, lens opacities in 3%, cataract in 19%, and retinal flecks in 37%. The genetic survey found five families with X-linked Alport syndrome, four families with recessive autosomal disease, and one family with dominant autosomal disease., Discussion: Ocular abnormalities have been reported in 9%-82% of Alport syndrome patients. They are rare in childhood and increase in frequency and severity with age. The types of ocular defects described mostly involve the lens, the retina and more rarely the cornea. The most common changes are anterior lenticonus and perimacular retinal flecks. In approximately 85%, Alport syndrome is X-linked. In the remaining 15%, the transmission is autosomal recessive and exceptionally autosomal dominant., Conclusion: Ocular examination is a precious help for Alport syndrome diagnosis. It can also determine the prognosis of nephropathy.

Published
2008
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28. Gene and protein markers of diabetic nephropathy.

Author

Granier C, Makni K, Molina L, Jardin-Watelet B, Ayadi H, and Jarraya F

Subjects
Adiponectin urine, Albuminuria urine, Collagen Type IV urine, Extracellular Matrix Proteins urine, Genetic Linkage, Genetic Predisposition to Disease, Glycation End Products, Advanced urine, Humans, Transforming Growth Factor beta urine, Biomarkers urine, Diabetic Nephropathies genetics, Diabetic Nephropathies urine
Published
2008
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29. Association analysis of interleukin gene polymorphisms in autoimmune thyroid diseases in the Tunisian population.

Author

Kammoun-Krichen M, Bougacha-Elleuch N, Makni K, Rebai M, Peraldi-Roux S, Rebai A, Mnif M, Abid M, Jouida J, and Ayadi H

Subjects
Alleles, Case-Control Studies, Family Health, Gene Frequency, Genotype, Humans, Models, Statistical, Pedigree, Polymorphism, Restriction Fragment Length, Tunisia, Autoimmune Diseases genetics, Genetic Predisposition to Disease, Interleukin-1 genetics, Polymorphism, Genetic, Thyroid Diseases genetics
Abstract

Autoimmune thyroid diseases (AITDs), including Graves' disease (GD) and autoimmune hypothyroidism (AH), are inherited as complex traits. Among the genes contributing to AITDs susceptibility are genes of the IL-1 family. IL-1 regulates T and B lymphocyte maturation, including the induction of several cytokines and cytokine receptors. Therefore, disturbances of this balance may not only play a role in inflammation but also in the pathogenesis of autoimmunity. In order to investigate genetic association of IL-1 gene polymorphisms with AITDs, we performed both a familial study in a large Tunisian pedigree with high prevalence of AITDs (64 patients and 176 controls), and a case-control study (131 GD unrelated patients and 225 healthy controls). PCR and PCR-RFLP methods were used to analyse respectively a VNTR in the IL-1RN gene and three SNPs in both IL-1B genes (-511 C/T and +3954 C/T) and IL-1A (-889 C/T). The family-based association study showed an association of the IL-1B+3954 C/T polymorphism (p=0.02) and two haplotypes IL-1RN*3/C/T/T and IL-1RN*1/C/T/T (p=0.009 and p=0.047 respectively) with AITDs. The case-control study is the first study revealing a significant association of the IL-1A-889 C/T polymorphism (chi2=10.23; p=0.0014) with susceptibility to GD. Our data suggest that the IL-1 gene cluster may harbour susceptibility genes for AITDs and GD pathogenesis in the Tunisian population.

Published
2007
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30. [Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families].

Author

Sellami D, Makni K, Chaker H, Kharrat M, Hentati N, Kammoun K, Chabouni F, Ben Hamida M, Hachicha J, Salomon R, Antignac C, Ayadi H, and Feki J

Subjects
Adolescent, Adult, Female, Humans, Male, Pedigree, Tunisia, Nephritis, Interstitial complications, Nephritis, Interstitial genetics, Retinitis Pigmentosa etiology, Retinitis Pigmentosa genetics
Abstract

Purpose: Nephronophthisis is a familial interstitial nephropathy with an autosome recessive mode of transmission. In some cases, it is associated with ocular manifestations such as retinitis pigmentosa in Senior-Løken syndrome. We report ocular abnormalities and genetic results in three affected Tunisian families., Patients and Methods: Twenty-two members of these three families underwent a complete ophthalmologic examination (visual acuity, slit lamp biomicroscopy, ophthalmoscopy, and retinal electrophysiology). For genetic study, all individuals were genotyped and underwent a genomic sequence., Results: Twenty-two subjects, nine of whom presented nephronophthisis, were included in this study. Retinitis pigmentosa was found in three cases. Our genetic study demonstrated that patients belonging to family 1 had homozygous deletions in NPHP1, all affected individuals from family 3 were linked to NPHP4 and presented a deletion in exons 2 and 3. Results are pending for patients in family 2., Conclusion: Senior-Løken syndrome is a rare hereditary disease that combines familial juvenile nephronophthisis and retinitis pigmentosa. This association was described in the literature in 39%-43% of cases. In our study, it was approximately 33% of cases. The genetic study can sometimes obviate the need for renal puncture, especially when the homozygous deletion of NPHP1 gene is confirmed.

Published
2006
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31. [Intraepithelial carcinoma and invasive carcinoma of the sclero-corneal limbus. Anatomo-clinical study apropos of 20 cases].

Author

Ben Rejeb A, Mabrouk L, Makni K, Chadli A, Hafsia M, and Gabsi S

Subjects
Adolescent, Adult, Aged, Bowen's Disease epidemiology, Bowen's Disease therapy, Carcinoma, Squamous Cell epidemiology, Carcinoma, Squamous Cell therapy, Child, Female, Humans, Male, Middle Aged, Retrospective Studies, Bowen's Disease pathology, Carcinoma, Squamous Cell pathology, Limbus Corneae
Abstract

We report a retrospective multicentric study of 20 cases of sclero-corneal limbus tumours carcinome including 9 cases of Bowen's disease and 11 squamous cell carcinomas. These cases were observed over two 10 and 20-year periods in two pathology departments. Epidemiological, clinical, pathological and therapeutic data as well as the clinical course were studied and the results compared with a large review of the literature. The mean age of the patients was 38 years for Bowen's disease and 47 for carcinoma. Two young subjects, 5 and 22 years, had xeroderma pigmentosum and had Bowen's disease and an epidermoid microinvasive carcinoma, respectively. All of the patients with Bowen's disease were men and were more than 90% of the patients with carcinoma. Tumour size was greater in carcinomas (7 to 10 mm) than in Bowen's disease (1 to 5 mm). All tumours were unilateral. Clinical manifestations included irritative or inflammatory reactions in one-fourth of the patients with Bowen's disease and in one-third of those with carcinoma. Pathology examination revealed an intact basal membrane separating healthy tissue from Bowen's lesions which showed disrupted cell architecture mostly involving the medial layers of the epithelium in 37% of the cases. All of the lesions were treated by exeresis. No recurrence has been observed after a follow-up of 1 month to 2 years for Bowen's disease and 1 year (maximum) for squamous cell carcinomas.

Published
1994

32. [Ag-NORS and non-pigmented tumors of the sclerocorneal limbus. Apropos of 20 cases].

Author

Ben Rejeb A, Mabrouk L, Makni K, Chadli A, Hafsia M, and Gabsi S

Subjects
Humans, Neoplasm Invasiveness, Retrospective Studies, Time Factors, Bowen's Disease pathology, Carcinoma, Squamous Cell pathology, Limbus Corneae, Nucleolus Organizer Region
Abstract

We studied nucleolar organizers (Ag-NORS) in 20 cases of ocular limbic tumours of which 7 were Bowen disease or intraepithelial carcinoma and 13 were invasive carcinomas. The NOR-Index, reflecting cellular activity, increased from intraepithelial carcinoma (3.97) to microinvasive (5.45) and invasive carcinoma (5.81). Results of Nor-Index, reflecting proliferation, was in agreement with other technics such as immuno-labelling with Ki67 and PCNA antibodies.

Published
1994

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