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11. Carcinome papillaire du tractus thyréoglosse chez un enfant

Author

Tbini, M., Riahi, I., Ammar, C. Ben, Nacef, I. Ben, and Salah, M. Ben

Abstract

Le kyste du tractus thyréoglosse est une malformation cervicale fréquente. Le développement d’un carcinome papillaire au sein de cette malformation est rare et touche le plus l’adulte. Alors que l’atteinte pédiatrique est exceptionnelle.

Published
2024
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15. Localisation des adénomes parathyroïdiens

Author

Tbini, M., primary, Chebil, E., additional, Romdhani, S., additional, Laamouri, R., additional, Riahi, I., additional, Ben Nacef, I., additional, Lahiani, R., additional, Khiari, K., additional, and Bensalah, M., additional

Published
2021
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17. Histiocytose X à localisation thyroïdienne

Author

Chebil, A., primary, Tibini, M., additional, Ghabi, M., additional, Hamroun, N., additional, Sifaoui, A., additional, Jaafoura, H., additional, Riahi, I., additional, Lahieni, R., additional, and Ben Salah, M., additional

Published
2021
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19. Physico-chemical properties of perovskite ZnSnO3 thin films deposited on glass and silicon wafers by RF magnetron sputtering.

Author

Riahi, I., Khalfallah, B., and Chaabouni, F.

Abstract

The radiofrequency magnetron sputtering method has been used in this work to deposit ZnSnO3 thin films using powder targets (ZnO: 35 wt %; SnO2: 65 wt %) on amorphous glass and p-Silicon substrates. During the experiment, the substrate temperatures (Ts) were maintained at room temperature, 100 °C, 200 °C, 300 °C, and 400 °C with the aim to study the influence on the structural, morphological, optical, and electrical properties of the deposited materials. X-ray diffraction, atomic force microscopy, scanning electron microscopy, ultraviolet–visible spectroscopy and Hall Effect were used for the characterization of the ZnSnO3 thin films. A better crystallinity of films with an average transmittance higher than 80% in the visible region and the lowest resistivity of 1.38 × 10–3 Ω cm were obtained for the films deposited at Ts = 400 °C. AFM and SEM studies of the ZnSnO3 films indicate the surfaces are quite smooth, and the morphology improves with increasing the substrate temperature. These properties enable the ZnSnO3 to be an appropriate material for applications that integrate electrically conducting, optically transparent thin films. [ABSTRACT FROM AUTHOR]

Published
2022
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21. Diabète et complications des cellulites cervico-faciales

Author

Riahi, I., Tbini, M., Bouziri, S., Chaouachi, S., Ben Naceuf, I., Lahiani, R., and Ben Salah, M.

Abstract

Les cellulites cervico-faciales (CCF) sont des infections bactériennes des tissus cellulo-graisseux de la tête et du cou. Pathologie grave pouvant engager le pronostic vital. Notre objectif était d’évaluer l’impact du diabète sur l’évolution et la prise en charge des CCF.

Published
2024
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22. Cervical adenophlegmon in diabetes

Author

Ben Ammar, C., Tbini, M., Riahi, I., Ben Nacef, I., and Ben Salah, M.

Abstract

The objective of this study is to describe the clinical and therapeutic particularities of cervical adenophlegmons in diabetic patients.

Published
2024
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30. Bone damage during primary hyperparathyroidism

Author

Ben Ammar, C., Tbini, M., Riahi, I., Ben Nacef, I., and Ben Salah, M.

Abstract

The objective of our study is to evaluate the prevalence and factors associated with bone damage during primary hyperparathyroidism (PHPT).

Published
2024
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37. L’ectopie de la glande thyroïde

Author

Jaafoura, H., primary, Riahi, I., additional, Bouzidi, D., additional, Ghabi, M., additional, Chebil, E., additional, Ben Nacef, I., additional, Ksentini, M., additional, Lahiani, R., additional, and Ben Salah, M., additional

Published
2020
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44. Nasolabial Cysts: Case Series

Author

Riahi, I, De Dorlodot, Clotilde, Eloy, Philippe, UCL - SSS/IREC/MONT - Pôle Mont Godinne, UCL - (MGD) Service d'oto-rhino-laryngologie, and UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie

Subjects
otorhinolaryngologic diseases, Nasolabial cyst, Case series, Imaging, Sublabial excision, Endonasal marsupialization
Abstract

Nasolabial cyst is a rare, benign soft tissue mass located in the nasolabial fold. It is submucosal and extra osseous. It affects more commonly middle aged women with coloured skin. They can be regularly infected or cause nasal obstruction and alar deformity. Clinical examination, nasal endoscopy and imaging are necessary to make the diagnosis. When symptomatic surgery is the treatment. It may consist of a complete excision via a transoral sublabial incision or a endonasal marsupialization. Both techniques have the same efficacy. We report herein a series of 6 patients treated successfully in the ENT department of the CHU UCL Namur from Belgium.

Published
2019

45. Diagnostic moléculaire de la maladie de Gaucher en Tunisie

Author

Cherif, W., Ben Turkia, H., Ben Rhouma, F., Riahi, I., Chemli, J., Amaral, O., Sá Miranda, M. C., Caillaud, C., Kaabachi, N., Tebib, N., Abdelhak, S., Ben Dridi, M. F., Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP), Hôpital La Rabta [Tunis], Faculté des Sciences Mathématiques, Physiques et Naturelles de Tunis (FST), Université de Tunis El Manar (UTM), Hôpital Universitaire Sahloul (CHU Sahloul), Département de neurobiologie génétique [Porto, Portugal], Universidade do Porto-Instituto de Biologia Molecular e Celular (IBMC), Laboratoire de génétique métabolique, Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Faculté des Sciences de Tunis, Université de Tunis [Tunis], Universidade do Porto [Porto]-Instituto de Biologia Molecular e Celular (IBMC), and Université Paris Descartes - Paris 5 (UPD5)-Université Paris Descartes - Paris 5 (UPD5)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)

Subjects
Male, Tunisian population, DNA Mutational Analysis, MESH: Glucosylceramidase/genetics, Maladie de Gaucher, Population tunisienne, MESH: Polymorphism, Restriction Fragment Length/physiology, Gaucher disease, MESH: Tunisia/epidemiology, Polymerase Chain Reaction, MESH: Genotype, MESH: Child, Age of Onset, Child, Afrique du Nord, MESH: Middle Aged, MESH: Infant, Newborn, MESH: Genetic Predisposition to Disease, Middle Aged, MESH: Infant, MESH: DNA Mutational Analysis/methods, MESH: Polymerase Chain Reaction/methods, Molecular Diagnostic Techniques, MESH: Young Adult, Child, Preschool, Diagnostic moléculaire, Glucosylceramidase, Female, Gène GBA, Molecular diagnosis, Polymorphism, Restriction Fragment Length, Adult, Tunisia, Adolescent, Genotype, MESH: Age of Onset, Young Adult, MESH: Gaucher Disease/epidemiology, MESH: Gaucher Disease/diagnosis, MESH: Gaucher Disease/genetics, Humans, Genetic Predisposition to Disease, MESH: Molecular Diagnostic Techniques, MESH: Adolescent, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, GBA gene, MESH: Child, Preschool, Infant, Newborn, Infant, MESH: Adult, North Africa, MESH: Male, MESH: Gaucher Disease/complications, MESH: Female
Abstract

International audience; Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI) represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members.; La maladie de Gaucher est une maladie de surcharge lysosomale due à un déficit de l’enzyme β-glucosidase. Afin d’étudier le spectre mutationnel de cette affection en Tunisie, nous avons recherché les mutations récurrentes chez 30 patients. Le dépistage des mutations récurrentes par PCR/RFLP et séquençage direct a révélé que la mutation N370S est la plus fréquente (44 %, 22/50 allèles mutés), suivie par la mutation L444P qui présente une fréquence de l’ordre de 16 % (8/50 allèles mutés). L’allèle recombinant (RecNciI) a été retrouvé chez 14 % des cas étudiés. Les mutations non identifiées dans cette étude représentent 26 %. En outre, nos résultats ont montré que le génotype N370S/RecNciI est le plus fréquent dans les formes à révélation pédiatrique et il est associé à une atteinte viscérale sévère. La recherche de ces mutations en priorité fournit un outil de diagnostic moléculaire pour la majorité des patients, elle permet ainsi un dépistage des hétérozygotes indispensable pour le conseil génétique.

Published
2012

46. Molecular diagnosis of Gaucher disease in Tunisia

Author

Cherif, W., Ben Turkia, H., Ben Rhouma, F., Riahi, I., Chemli, J., Amaral, O., Sá Miranda, M.C., Caillaud, C., Kaabachi, N., Tebib, N., and Ben Dridi, M.F.

Subjects
Tunisia, Gaucher, Genética Humana, GBA, Diagnóstico Molecular, Doenças Genéticas
Abstract

Trabalho desenvolvido na sequência de projeto de colaboração Portugal-Tunisia iniciado no IBMC-UP. [ENG] Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid b-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI)represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members. [FR] Résumé: La maladie de Gaucher est une maladie de surcharge lysosomale due à un déficit de l’enzyme β-glucosidase. Afin d’étudier le spectre mutationnel de cette affection en Tunisie, nous avons recherché les mutations récurrentes chez 30 patients. Le dépistage des mutations récurrentes par PCR/RFLP et séquençage direct a révélé que la mutation N370S est la plus fréquente (44 %, 22/50 allèles mutés), suivie par la mutation L444P qui présente une fréquence de l’ordre de 16 % (8/50 allèles mutés). L’allèle recombinant (RecNciI) a été retrouvé chez 14 % des cas étudiés. Les mutations non identifiées dans cette étude représentent 26 %. En outre, nos résultats ont montré que le génotype N370S/RecNciI est le plus fréquent dans les formes à révélation pédiatrique et il est associé à une atteinte viscérale sévère. La recherche de ces mutations en priorité fournit un outil de diagnostic moléculaire pour la majorité des patients, elle permet ainsi un dépistage des hétérozygotes indispensable pour le conseil génétique. Abstract: Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid β-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI) represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members.

Published
2012

47. Diagnostic moléculaire de la maladie de Gaucher en Tunisie

Author

Cherif, W., primary, Ben Turkia, H., additional, Ben Rhouma, F., additional, Riahi, I., additional, Chemli, J., additional, Amaral, O., additional, Sá Miranda, M.C., additional, Caillaud, C., additional, Kaabachi, N., additional, Tebib, N., additional, Abdelhak, S., additional, and Ben Dridi, M.F., additional

Published
2013
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