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2. 46th Medical Maghrebian Congress. November 9-10, 2018. Tunis
- Author
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Alami Aroussi, A., Fouad, A., Omrane, A., Razzak, A., Aissa, A., Akkad, A., Amraoui, A., Aouam, A., Arfaoui, A., Belkouchi, A., Ben Chaaben, A., Ben Cheikh, A., Ben Khélifa, A., Ben Mabrouk, A., Benhima, A., Bezza, A., Bezzine, A., Bourrahouat, A., Chaieb, A., Chakib, A., Chetoui, A., Daoudi, A., Ech-Chenbouli, A., Gaaliche, A., Hassani, A., Kassimi, A., Khachane, A., Labidi, A., Lalaoui, A., Masrar, A., Mchachi, A., Nakhli, A., Ouakaa, A., Siati, A., Toumi, A., Zaouali, A., Condé, A. Y., Haggui, A., Belaguid, A., abdelkader jalil el hangouche, Gharbi, A., Mahfoudh, A., Bouzouita, A., Aissaoui, A., Ben Hamouda, A., Hedhli, A., Ammous, A., Bahlous, A., Ben Halima, A., Belhadj, A., Blel, A., Brahem, A., Banasr, A., Meherzi, A., Saadi, A., Sellami, A., Turki, A., Ben Miled, A., Ben Slama, A., Daib, A., Zommiti, A., Chadly, A., Jmaa, A., Mtiraoui, A., Ksentini, A., Methnani, A., Zehani, A., Kessantini, A., Farah, A., Mankai, A., Mellouli, A., Touil, A., Hssine, A., Ben Safta, A., Derouiche, A., Jmal, A., Ferjani, A., Djobbi, A., Dridi, A., Aridhi, A., Bahdoudi, A., Ben Amara, A., Benzarti, A., Ben Slama, A. Y., Oueslati, A., Soltani, A., Chadli, A., Aloui, A., Belghuith Sriha, A., Bouden, A., Laabidi, A., Mensi, A., Sabbek, A., Zribi, A., Green, A., Ben Nasr, A., Azaiez, A., Yeades, A., Belhaj, A., Mediouni, A., Sammoud, A., Slim, A., Amine, B., Chelly, B., Jatik, B., Lmimouni, B., Daouahi, B., Ben Khelifa, B., Louzir, B., Dorra, A., Dhahri, B., Ben Nasrallah, C., Chefchaouni, C., Konzi, C., Loussaief, C., Makni, C., Dziri, C., Bouguerra, C., Kays, C., Zedini, C., Dhouha, C., Mohamed, C., Aichaouia, C., Dhieb, C., Fofana, D., Gargouri, D., Chebil, D., Issaoui, D., Gouiaa, D., Brahim, D., Essid, D., Jarraya, D., Trad, D., Ben Hmida, E., Sboui, E., Ben Brahim, E., Baati, E., Talbi, E., Chaari, E., Hammami, E., Ghazouani, E., Ayari, F., Ben Hariz, F., Bennaoui, F., Chebbi, F., Chigr, F., Guemira, F., Harrar, F., Benmoula, F. Z., Ouali, F. Z., Maoulainine, F. M. R., Bouden, F., Fdhila, F., Améziani, F., Bouhaouala, F., Charfi, F., Chermiti Ben Abdallah, F., Hammemi, F., Jarraya, F., Khanchel, F., Ourda, F., Sellami, F., Trabelsi, F., Yangui, F., Fekih Romdhane, F., Mellouli, F., Nacef Jomli, F., Mghaieth, F., Draiss, G., Elamine, G., Kablouti, G., Touzani, G., Manzeki, G. B., Garali, G., Drissi, G., Besbes, G., Abaza, H., Azzouz, H., Said Latiri, H., Rejeb, H., Ben Ammar, H., Ben Brahim, H., Ben Jeddi, H., Ben Mahjouba, H., Besbes, H., Dabbebi, H., Douik, H., El Haoury, H., Elannaz, H., Elloumi, H., Hachim, H., Iraqi, H., Kalboussi, H., Khadhraoui, H., Khouni, H., Mamad, H., Metjaouel, H., Naoui, H., Zargouni, H., Elmalki, H. O., Feki, H., Haouala, H., Jaafoura, H., Drissa, H., Mizouni, H., Kamoun, H., Ouerda, H., Zaibi, H., Chiha, H., Saibi, H., Skhiri, H., Boussaffa, H., Majed, H., Blibech, H., Daami, H., Harzallah, H., Rkain, H., Ben Massoud, H., Jaziri, H., Ben Said, H., Ayed, H., Harrabi, H., Chaabouni, H., Ladida Debbache, H., Harbi, H., Yacoub, H., Abroug, H., Ghali, H., Kchir, H., Msaad, H., Manai, H., Riahi, H., Bousselmi, H., Limem, H., Aouina, H., Jerraya, H., Ben Ayed, H., Chahed, H., Snéne, H., Lahlou Amine, I., Nouiser, I., Ait Sab, I., Chelly, I., Elboukhani, I., Ghanmi, I., Kallala, I., Kooli, I., Bouasker, I., Fetni, I., Bachouch, I., Bouguecha, I., Chaabani, I., Gazzeh, I., Samaali, I., Youssef, I., Zemni, I., Bachouche, I., Bouannene, I., Kasraoui, I., Laouini, I., Mahjoubi, I., Maoudoud, I., Riahi, I., Selmi, I., Tka, I., Hadj Khalifa, I., Mejri, I., Béjia, I., Bellagha, J., Boubaker, J., Daghfous, J., Dammak, J., Hleli, J., Ben Amar, J., Jedidi, J., Marrakchi, J., Kaoutar, K., Arjouni, K., Ben Helel, K., Benouhoud, K., Rjeb, K., Imene, K., Samoud, K., El Jeri, K., Abid, K., Chaker, K., Bouzghaîa, K., Kamoun, K., Zitouna, K., Oughlani, K., Lassoued, K., Letaif, K., Hakim, K., Cherif Alami, L., Benhmidoune, L., Boumhil, L., Bouzgarrou, L., Dhidah, L., Ifrine, L., Kallel, L., Merzougui, L., Errguig, L., Mouelhi, L., Sahli, L., Maoua, M., Rejeb, M., Ben Rejeb, M., Bouchrik, M., Bouhoula, M., Bourrous, M., Bouskraoui, M., El Belhadji, M., Essakhi, M., Essid, M., Gharbaoui, M., Haboub, M., Iken, M., Krifa, M., Lagrine, M., Leboyer, M., Najimi, M., Rahoui, M., Sabbah, M., Sbihi, M., Zouine, M., Chefchaouni, M. C., Gharbi, M. H., El Fakiri, M. M., Tagajdid, M. R., Shimi, M., Touaibia, M., Jguirim, M., Barsaoui, M., Belghith, M., Ben Jmaa, M., Koubaa, M., Tbini, M., Boughdir, M., Ben Salah, M., Ben Fraj, M., Ben Halima, M., Ben Khalifa, M., Bousleh, M., Limam, M., Mabrouk, M., Mallouli, M., Rebeii, M., Ayari, M., Belhadj, M., Ben Hmida, M., Boughattas, M., Drissa, M., El Ghardallou, M., Fejjeri, M., Hamza, M., Jaidane, M., Jrad, M., Kacem, M., Mersni, M., Mjid, M., Serghini, M., Triki, M., Ben Abbes, M., Boussaid, M., Gharbi, M., Hafi, M., Slama, M., Trigui, M., Taoueb, M., Chakroun, M., Ben Cheikh, M., Chebbi, M., Hadj Taieb, M., Ben Khelil, M., Hammami, M., Khalfallah, M., Ksiaa, M., Mechri, M., Mrad, M., Sboui, M., Bani, M., Hajri, M., Mellouli, M., Allouche, M., Mesrati, M. A., Mseddi, M. A., Amri, M., Bejaoui, M., Bellali, M., Ben Amor, M., Ben Dhieb, M., Ben Moussa, M., Chebil, M., Cherif, M., Fourati, M., Kahloul, M., Khaled, M., Machghoul, M., Mansour, M., Abdesslem, M. M., Ben Chehida, M. A., Chaouch, M. A., Essid, M. A., Meddeb, M. A., Gharbi, M. C., Elleuch, M. H., Loueslati, M. H., Sboui, M. M., Mhiri, M. N., Kilani, M. O., Ben Slama, M. R., Charfi, M. R., Nakhli, M. S., Mourali, M. S., El Asli, M. S., Lamouchi, M. T., Cherti, M., Khadhraoui, M., Bibi, M., Hamdoun, M., Kassis, M., Touzi, M., Ben Khaled, M., Fekih, M., Khemiri, M., Ouederni, M., Hchicha, M., Ben Attia, M., Yahyaoui, M., Ben Azaiez, M., Bousnina, M., Ben Jemaa, M., Ben Yahia, M., Daghfous, M., Haj Slimen, M., Assidi, M., Belhadj, N., Ben Mustapha, N., El Idrissislitine, N., Hikki, N., Kchir, N., Mars, N., Meddeb, N., Ouni, N., Rada, N., Rezg, N., Trabelsi, N., Bouafia, N., Haloui, N., Benfenatki, N., Bergaoui, N., Yomn, N., Maamouri, N., Mehiri, N., Siala, N., Beltaief, N., Aridhi, N., Sidaoui, N., Walid, N., Mechergui, N., Mnif, N., Ben Chekaya, N., Bellil, N., Dhouib, N., Achour, N., Kaabar, N., Mrizak, N., Chaouech, N., Hasni, N., Issaoui, N., Ati, N., Balloumi, N., Haj Salem, N., Ladhari, N., Akif, N., Liani, N., Hajji, N., Trad, N., Elleuch, N., Marzouki, N. E. H., Larbi, N., M Barek, N., Rebai, N., Bibani, N., Ben Salah, N., Belmaachi, O., Elmaalel, O., Jlassi, O., Mihoub, O., Ben Zaid, O., Bouallègue, O., Bousnina, O., Bouyahia, O., El Maalel, O., Fendri, O., Azzabi, O., Borgi, O., Ghdes, O., Ben Rejeb, O., Rachid, R., Abi, R., Bahiri, R., Boulma, R., Elkhayat, R., Habbal, R., Tamouza, R., Jomli, R., Ben Abdallah, R., Smaoui, R., Debbeche, R., Fakhfakh, R., El Kamel, R., Gargouri, R., Jouini, R., Nouira, R., Fessi, R., Bannour, R., Ben Rabeh, R., Kacem, R., Khmakhem, R., Ben Younes, R., Karray, R., Cheikh, R., Ben Malek, R., Ben Slama, R., Kouki, R., Baati, R., Bechraoui, R., Fradi, R., Lahiani, R., Ridha, R., Zainine, R., Kallel, R., Rostom, S., Ben Abdallah, S., Ben Hammamia, S., Benchérifa, S., Benkirane, S., Chatti, S., El Guedri, S., El Oussaoui, S., Elkochri, S., Elmoussaoui, S., Enbili, S., Gara, S., Haouet, S., Khammeri, S., Khefecha, S., Khtrouche, S., Macheghoul, S., Mallouli, S., Rharrit, S., Skouri, S., Helali, S., Boulehmi, S., Abid, S., Naouar, S., Zelfani, S., Ben Amar, S., Ajmi, S., Braiek, S., Yahiaoui, S., Ghezaiel, S., Ben Toumia, S., Thabeti, S., Daboussi, S., Ben Abderahman, S., Rhaiem, S., Ben Rhouma, S., Rekaya, S., Haddad, S., Kammoun, S., Merai, S., Mhamdi, S., Ben Ali, R., Gaaloul, S., Ouali, S., Taleb, S., Zrour, S., Hamdi, S., Zaghdoudi, S., Ammari, S., Ben Abderrahim, S., Karaa, S., Maazaoui, S., Saidani, S., Stambouli, S., Mokadem, S., Boudiche, S., Zaghbib, S., Ayedi, S., Jardek, S., Bouselmi, S., Chtourou, S., Manoubi, S., Bahri, S., Halioui, S., Jrad, S., Mazigh, S., Ouerghi, S., Toujani, S., Fenniche, S., Aboudrar, S., Meriem Amari, S., Karouia, S., Bourgou, S., Halayem, S., Rammeh, S., Yaïch, S., Ben Nasrallah, S., Chouchane, S., Ftini, S., Makni, S., Miri, S., Saadi, S., Manoubi, S. A., Khalfallah, T., Mechergui, T., Dakka, T., Barhoumi, T., M Rad, T. E. B., Ajmi, T., Dorra, T., Ouali, U., Hannachi, W., Ferjaoui, W., Aissi, W., Dahmani, W., Dhouib, W., Koubaa, W., Zhir, W., Gheriani, W., Arfa, W., Dougaz, W., Sahnoun, W., Naija, W., Sami, Y., Bouteraa, Y., Elhamdaoui, Y., Hama, Y., Ouahchi, Y., Guebsi, Y., Nouira, Y., Daly, Y., Mahjoubi, Y., Mejdoub, Y., Mosbahi, Y., Said, Y., Zaimi, Y., Zgueb, Y., Dridi, Y., Mesbahi, Y., Gharbi, Y., Hellal, Y., Hechmi, Z., Zid, Z., Elmouatassim, Z., Ghorbel, Z., Habbadi, Z., Marrakchi, Z., Hidouri, Z., Abbes, Z., Ouhachi, Z., Khessairi, Z., Khlayfia, Z., Mahjoubi, Z., and Moatemri, Z.
3. Dilated Cardiomyopathy due to the Novel MT-CYB Missense Mutation m.14757T>C.
- Author
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Zarrouk S, Finsterer J, Mehri S, Ourda F, Ben Arab S, and Boussada R
- Abstract
Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardiomyopathy (CM). Various studies described mutations in protein-encoding mtDNA genes, such as cytochrome-b, manifesting with CM. A detailed clinical, biochemical, and molecular genetic analysis was performed in a 40-year-old male with dilated CM (DCM) to detect the underlying mtDNA defect. Muscle biopsy showed complex-III deficiency, and sequencing of the cytochrome-b gene revealed the pathogenic variant m.14757T>C in MT-CYB , resulting in the replacement of the hydrophobic methionine by the polar threonine (M4T). By application of the PolyPhen algorithm the variant was predicted as pathogenic. The mutation was not found in 100 healthy controls and never reported as a neutral polymorphism despite extensive sequencing of the cytochrome-b gene in 2,704 normal healthy controls from different ethnic backgrounds. In conclusion, the novel variant m.14757T>C in MT-CYB is associated with DCM suggesting a pathophysiologic role of the variant in the development of DCM., Competing Interests: The authors declare no conflict of interest., (Copyright 2021, Zarrouk et al.)
- Published
- 2021
- Full Text
- View/download PDF
4. 46th Medical Maghrebian Congress. November 9-10, 2018. Tunis.
- Author
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Alami Aroussi A, Fouad A, Omrane A, Razzak A, Aissa A, Akkad A, Amraoui A, Aouam A, Arfaoui A, Belkouchi A, Ben Chaaben A, Ben Cheikh A, Ben Khélifa A, Ben Mabrouk A, Benhima A, Bezza A, Bezzine A, Bourrahouat A, Chaieb A, Chakib A, Chetoui A, Daoudi A, Ech-Chenbouli A, Gaaliche A, Hassani A, Kassimi A, Khachane A, Labidi A, Lalaoui A, Masrar A, McHachi A, Nakhli A, Ouakaa A, Siati A, Toumi A, Zaouali A, Condé AY, Haggui A, Belaguid A, El Hangouche AJ, Gharbi A, Mahfoudh A, Bouzouita A, Aissaoui A, Ben Hamouda A, Hedhli A, Ammous A, Bahlous A, Ben Halima A, Belhadj A, Bezzine A, Blel A, Brahem A, Banasr A, Meherzi A, Saadi A, Sellami A, Turki A, Ben Miled A, Ben Slama A, Daib A, Zommiti A, Chadly A, Jmaa A, Mtiraoui A, Ksentini A, Methnani A, Zehani A, Kessantini A, Farah A, Mankai A, Mellouli A, Zaouali A, Touil A, Hssine A, Ben Safta A, Derouiche A, Jmal A, Ferjani A, Djobbi A, Dridi A, Aridhi A, Bahdoudi A, Ben Amara A, Benzarti A, Ben Slama AY, Oueslati A, Soltani A, Chadli A, Aloui A, Belghuith Sriha A, Bouden A, Laabidi A, Mensi A, Ouakaa A, Sabbek A, Zribi A, Green A, Ben Nasr A, Azaiez A, Yeades A, Belhaj A, Mediouni A, Sammoud A, Slim A, Amine B, Chelly B, Jatik B, Lmimouni B, Daouahi B, Ben Khelifa B, Louzir B, Dorra A, Dhahri B, Ben Nasrallah C, Chefchaouni C, Konzi C, Loussaief C, Makni C, Dziri C, Bouguerra C, Kays C, Zedini C, Dhouha C, Mohamed C, Aichaouia C, Dhieb C, Fofana D, Gargouri D, Chebil D, Issaoui D, Gouiaa D, Brahim D, Essid D, Jarraya D, Trad D, Ben Hmida E, Sboui E, Ben Brahim E, Baati E, Talbi E, Chaari E, Hammami E, Ghazouani E, Ayari F, Ben Hariz F, Bennaoui F, Chebbi F, Chigr F, Guemira F, Harrar F, Benmoula FZ, Ouali FZ, Maoulainine FMR, Bouden F, Fdhila F, Améziani F, Bouhaouala F, Charfi F, Chermiti Ben Abdallah F, Hammemi F, Jarraya F, Khanchel F, Ourda F, Sellami F, Trabelsi F, Yangui F, Fekih Romdhane F, Mellouli F, Nacef Jomli F, Mghaieth F, Draiss G, Elamine G, Kablouti G, Touzani G, Manzeki GB, Garali G, Drissi G, Besbes G, Abaza H, Azzouz H, Said Latiri H, Rejeb H, Ben Ammar H, Ben Brahim H, Ben Jeddi H, Ben Mahjouba H, Besbes H, Dabbebi H, Douik H, El Haoury H, Elannaz H, Elloumi H, Hachim H, Iraqi H, Kalboussi H, Khadhraoui H, Khouni H, Mamad H, Metjaouel H, Naoui H, Zargouni H, Elmalki HO, Feki H, Haouala H, Jaafoura H, Drissa H, Mizouni H, Kamoun H, Ouerda H, Zaibi H, Chiha H, Kamoun H, Saibi H, Skhiri H, Boussaffa H, Majed H, Blibech H, Daami H, Harzallah H, Rkain H, Ben Massoud H, Jaziri H, Ben Said H, Ayed H, Harrabi H, Chaabouni H, Ladida Debbache H, Harbi H, Yacoub H, Abroug H, Ghali H, Kchir H, Msaad H, Ghali H, Manai H, Riahi H, Bousselmi H, Limem H, Aouina H, Jerraya H, Ben Ayed H, Chahed H, Snéne H, Lahlou Amine I, Nouiser I, Ait Sab I, Chelly I, Elboukhani I, Ghanmi I, Kallala I, Kooli I, Bouasker I, Fetni I, Bachouch I, Bouguecha I, Chaabani I, Gazzeh I, Samaali I, Youssef I, Zemni I, Bachouche I, Youssef I, Bouannene I, Kasraoui I, Laouini I, Mahjoubi I, Maoudoud I, Riahi I, Selmi I, Tka I, Hadj Khalifa I, Mejri I, Béjia I, Bellagha J, Boubaker J, Daghfous J, Dammak J, Hleli J, Ben Amar J, Jedidi J, Marrakchi J, Kaoutar K, Arjouni K, Ben Helel K, Benouhoud K, Rjeb K, Imene K, Samoud K, El Jeri K, Abid K, Chaker K, Abid K, Bouzghaîa K, Kamoun K, Zitouna K, Oughlani K, Lassoued K, Letaif K, Hakim K, Cherif Alami L, Benhmidoune L, Boumhil L, Bouzgarrou L, Dhidah L, Ifrine L, Kallel L, Merzougui L, Errguig L, Mouelhi L, Sahli L, Maoua M, Rejeb M, Ben Rejeb M, Bouchrik M, Bouhoula M, Bourrous M, Bouskraoui M, El Belhadji M, El Belhadji M, Essakhi M, Essid M, Gharbaoui M, Haboub M, Iken M, Krifa M, Lagrine M, Leboyer M, Najimi M, Rahoui M, Sabbah M, Sbihi M, Zouine M, Chefchaouni MC, Gharbi MH, El Fakiri MM, Tagajdid MR, Shimi M, Touaibia M, Jguirim M, Barsaoui M, Belghith M, Ben Jmaa M, Koubaa M, Tbini M, Boughdir M, Ben Salah M, Ben Fraj M, Ben Halima M, Ben Khalifa M, Bousleh M, Limam M, Mabrouk M, Mallouli M, Rebeii M, Ayari M, Belhadj M, Ben Hmida M, Boughattas M, Drissa M, El Ghardallou M, Fejjeri M, Hamza M, Jaidane M, Jrad M, Kacem M, Mersni M, Mjid M, Sabbah M, Serghini M, Triki M, Ben Abbes M, Boussaid M, Gharbi M, Hafi M, Slama M, Trigui M, Taoueb M, Chakroun M, Ben Cheikh M, Chebbi M, Hadj Taieb M, Kacem M, Ben Khelil M, Hammami M, Khalfallah M, Ksiaa M, Mechri M, Mrad M, Sboui M, Bani M, Hajri M, Mellouli M, Allouche M, Mesrati MA, Mseddi MA, Amri M, Bejaoui M, Bellali M, Ben Amor M, Ben Dhieb M, Ben Moussa M, Chebil M, Cherif M, Fourati M, Kahloul M, Khaled M, Machghoul M, Mansour M, Abdesslem MM, Ben Chehida MA, Chaouch MA, Essid MA, Meddeb MA, Gharbi MC, Elleuch MH, Loueslati MH, Sboui MM, Mhiri MN, Kilani MO, Ben Slama MR, Charfi MR, Nakhli MS, Mourali MS, El Asli MS, Lamouchi MT, Cherti M, Khadhraoui M, Bibi M, Hamdoun M, Kassis M, Touzi M, Ben Khaled M, Fekih M, Khemiri M, Ouederni M, Hchicha M, Kassis M, Ben Attia M, Yahyaoui M, Ben Azaiez M, Bousnina M, Ben Jemaa M, Ben Yahia M, Daghfous M, Haj Slimen M, Assidi M, Belhadj N, Ben Mustapha N, El Idrissislitine N, Hikki N, Kchir N, Mars N, Meddeb N, Ouni N, Rada N, Rezg N, Trabelsi N, Bouafia N, Haloui N, Benfenatki N, Bergaoui N, Yomn N, Ben Mustapha N, Maamouri N, Mehiri N, Siala N, Beltaief N, Aridhi N, Sidaoui N, Walid N, Mechergui N, Mnif N, Ben Chekaya N, Bellil N, Dhouib N, Achour N, Kaabar N, Mrizak N, Mnif N, Chaouech N, Hasni N, Issaoui N, Ati N, Balloumi N, Haj Salem N, Ladhari N, Akif N, Liani N, Hajji N, Trad N, Elleuch N, Marzouki NEH, Larbi N, M'barek N, Rebai N, Bibani N, Ben Salah N, Belmaachi O, Elmaalel O, Jlassi O, Mihoub O, Ben Zaid O, Bouallègue O, Bousnina O, Bouyahia O, El Maalel O, Fendri O, Azzabi O, Borgi O, Ghdes O, Ben Rejeb O, Rachid R, Abi R, Bahiri R, Boulma R, Elkhayat R, Habbal R, Rachid R, Tamouza R, Jomli R, Ben Abdallah R, Smaoui R, Debbeche R, Fakhfakh R, El Kamel R, Gargouri R, Jouini R, Nouira R, Fessi R, Bannour R, Ben Rabeh R, Kacem R, Khmakhem R, Ben Younes R, Karray R, Cheikh R, Ben Malek R, Ben Slama R, Kouki R, Baati R, Bechraoui R, Fakhfakh R, Fradi R, Lahiani R, Ridha R, Zainine R, Kallel R, Rostom S, Ben Abdallah S, Ben Hammamia S, Benchérifa S, Benkirane S, Chatti S, El Guedri S, El Oussaoui S, Elkochri S, Elmoussaoui S, Enbili S, Gara S, Haouet S, Khammeri S, Khefecha S, Khtrouche S, Macheghoul S, Mallouli S, Rharrit S, Skouri S, Helali S, Boulehmi S, Abid S, Naouar S, Zelfani S, Ben Amar S, Ajmi S, Braiek S, Yahiaoui S, Ghezaiel S, Ben Toumia S, Thabeti S, Daboussi S, Ben Abderahman S, Rhaiem S, Ben Rhouma S, Rekaya S, Haddad S, Kammoun S, Merai S, Mhamdi S, Ben Ali R, Gaaloul S, Ouali S, Taleb S, Zrour S, Hamdi S, Zaghdoudi S, Ammari S, Ben Abderrahim S, Karaa S, Maazaoui S, Saidani S, Stambouli S, Mokadem S, Boudiche S, Zaghbib S, Ayedi S, Jardek S, Bouselmi S, Chtourou S, Manoubi S, Bahri S, Halioui S, Jrad S, Mazigh S, Ouerghi S, Toujani S, Fenniche S, Aboudrar S, Meriem Amari S, Karouia S, Bourgou S, Halayem S, Rammeh S, Yaïch S, Ben Nasrallah S, Chouchane S, Ftini S, Makni S, Manoubi S, Miri S, Saadi S, Manoubi SA, Khalfallah T, Mechergui T, Dakka T, Barhoumi T, M'rad TEB, Ajmi T, Dorra T, Ouali U, Hannachi W, Ferjaoui W, Aissi W, Dahmani W, Dhouib W, Koubaa W, Zhir W, Gheriani W, Arfa W, Dougaz W, Sahnoun W, Naija W, Sami Y, Bouteraa Y, Elhamdaoui Y, Hama Y, Ouahchi Y, Guebsi Y, Nouira Y, Daly Y, Mahjoubi Y, Mejdoub Y, Mosbahi Y, Said Y, Zaimi Y, Zgueb Y, Dridi Y, Mesbahi Y, Gharbi Y, Hellal Y, Hechmi Z, Zid Z, Elmouatassim Z, Ghorbel Z, Habbadi Z, Marrakchi Z, Hidouri Z, Abbes Z, Ouhachi Z, Khessairi Z, Khlayfia Z, Mahjoubi Z, and Moatemri Z
- Subjects
- Africa, Northern epidemiology, Anatomy education, Education, Medical history, Education, Medical methods, Education, Medical organization & administration, History, 21st Century, Humans, Internship and Residency standards, Internship and Residency trends, Job Satisfaction, Pathology, Clinical education, Tunisia epidemiology, Education, Medical trends, Medicine methods, Medicine organization & administration, Medicine trends
- Published
- 2019
5. Epidemiology and outcome of primary cardiac tumours prenatally, in neonatesneonnates and children: A single center experience from tunis.
- Author
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Msaad H, Drissa M, Hakim K, and Ourda F
- Published
- 2018
- Full Text
- View/download PDF
6. Pathogenicity of the transition m.3308T>C in left ventricular hypertrabeculation/noncompaction.
- Author
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Zarrouk Mahjoub S, Mehri S, Ourda F, Boussaada R, Mechmeche R, Ben Arab S, and Finsterer J
- Subjects
- Female, Humans, Isolated Noncompaction of the Ventricular Myocardium diagnosis, Isolated Noncompaction of the Ventricular Myocardium genetics, NADH Dehydrogenase genetics, Point Mutation genetics
- Published
- 2012
- Full Text
- View/download PDF
7. Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy.
- Author
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Zarrouk Mahjoub S, Mehri S, Ourda F, Finsterer J, and Ben Arab S
- Abstract
Background. Previously it has been shown that various types of hypertrophic and dilative cardiomyopathy (hCMP, dCMP) can be attributed to disturbed mitochondrial oxidative energy metabolism. Several studies described mutations in mitochondrial DNA-located genes encoding for subunits of respiratory chain complexes, including the cytochrome b gene (MT-CYB), causing CMPs. Methods and Results. In the present study the MT-CYB gene was analysed in 30 patients with hCMP, 40 patients with dCMP, and 50 controls for alterations. Altogether, 27 MT-CYB variants were detected. Twenty-four of them were single nucleotide polymorphisms defining common haplogroups. The variant m.15434C>A was found in a single patient with severe dCMP and assessed as novel mutation, since it was not found in healthy controls or available data sets, and was nonhaplogroup associated with Phylotree. This variant altered an amino acid (L230I) with a high interspecific amino acid conservation index (CI = 97.7%) indicative of the functional importance of the residue. Conclusions. Though the L230I mutation seems to play a causative role for dCMP, prospective studies on yeast or transgenic mice models with defined mutation are warranted to study the pathogenetic impact of this mutation.
- Published
- 2012
- Full Text
- View/download PDF
8. Transition m.3308T>C in the ND1 gene is associated with left ventricular hypertrabeculation/noncompaction.
- Author
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Zarrouk Mahjoub S, Mehri S, Ourda F, Boussaada R, Mechmeche R, Arab SB, and Finsterer J
- Subjects
- Adolescent, Case-Control Studies, DNA, Mitochondrial metabolism, Female, Humans, Isolated Noncompaction of the Ventricular Myocardium therapy, NADH Dehydrogenase metabolism, Pedigree, Isolated Noncompaction of the Ventricular Myocardium diagnosis, Isolated Noncompaction of the Ventricular Myocardium genetics, NADH Dehydrogenase genetics, Point Mutation genetics
- Abstract
Though left ventricular hypertrabeculation/noncompaction (LVNC) is frequently associated with mitochondrial DNA (mtDNA) mutations, it has not been reported in association with the transition m.3308T>C of the NADH dehydrogenase subunit 1 (ND1) gene. The index patient is a 16-year-old Tunisian female who was investigated for a systolic murmur and cardiomegaly. Echocardiography revealed tricuspid insufficiency, moderate left ventricular dilatation, Ebstein's anomaly, a superior caval vein draining into the coronary sinus and, surprisingly, LVNC of the apex and the lateral wall. LVNC was absent in all other cardiologically investigated siblings. RNA and mtDNA sequence analysis revealed the known homoplasmic mutation m.3308T>C resulting in the replacement of the first amino acid methionine by threonine in the ND1 subunit of respiratory chain complex I. The m.3308T>C mutation was also present in the patient's mother and several other family members but absent in 350 controls. Additionally, the index patient carried the polymorphisms m.8248A>G in the COX2 gene and m.8468C>T in the ATP8 gene. It is concluded that LVNC may be associated with the known homoplasmic m.3308T>C mutation in the ND1 gene. However, the pathogenetic role of this mutation in the development of LVNC remains elusive., (Copyright © 2011 S. Karger AG, Basel.)
- Published
- 2011
- Full Text
- View/download PDF
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