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6. Déprescription dans le contexte de l’hypertension [Deprescribing antihypertensive therapy]

Author

Tebib, N. and Wuerzner, G.

Subjects
Antihypertensive Agents/administration & dosage, Deprescriptions, Humans, Nursing Homes, Polypharmacy
Abstract

With the rise of life-expectancy, the number of comorbidities can increase and lead to polypharmacy (≥ 5 drugs/day) and excessive polypharmacy (> 9 drugs/day). In order to define suitable therapeutic targets, it is essential to take into account the heterogeneity of this population which can be classified into 3 categories : robust, vulnerable or dependent. In this context, the concept of deprescription, which englobes the process of tapering or stopping drugs, aimed at improving patient outcomes, becomes an important therapeutic tool. In the context of hypertension, this approach seems to be a safe, provided that patients can benefit from regular monitoring. It must be considered in vulnerable and dependent patients or patients institutionalized in nursing homes. Although, scientific evidence slowly accumulates, its levels remain moderate. Finally, the deprescribing process, can also be applied in specifics situations in order to prevent adverse events, such as during a heat wave.

Published
2020

16. 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

17. 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

21. P-236 – Déficit immunitaire primitif de l'enfant en Tunisie

Author

Halioui-Louhaichi, S., primary, Abdelkefi, S., additional, Mattoussi, N., additional, Labiadb, H., additional, Bousetta, K., additional, Tebib, N., additional, Gargah, T., additional, Ben Becher, S., additional, Barbouch, M.R., additional, Bejaoui, M., additional, and Maherzi, A., additional

Published
2015
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28. SFP P-135 – La mucoviscidose chez l’enfant Tunisien

Author

Halioui-Louhaichi, S., primary, Abdelkefi, S., additional, Ben Chehida, A., additional, Massoud, T., additional, Ben Dridi, M.F., additional, Barsaoui, S., additional, Gharbi-Sammoud, A., additional, Tebib, N., additional, and Maherzi, A., additional

Published
2014
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30. 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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34. P275 - La maladie de Morquio : à propos de 9 observations

Author

Ben Turkia, H., primary, Bouzidi, L., additional, Ben Chehida, A., additional, Azzouz, H., additional, Ben Abdelaziz, R., additional, Sanhaji, H., additional, Abdelmoula, M.S., additional, Kaabachi, N., additional, Tebib, N., additional, and Ben Dridi, M.F., additional

Published
2010
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35. P340 - Maladie de Kawasaki : à propos de 12 cas

Author

Chouaïbi, S., primary, Ben Chehida, A., additional, Ben Turkia, H., additional, Azzouz, H., additional, Ben Abdelaziz, R., additional, Abdelmoula, M.S., additional, Tebib, N., additional, and Ben Dridi, M.F., additional

Published
2010
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41. Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: Identification and structural characterization of two novel TAT mutations

Author

Charfeddine, C., primary, Monastiri, K., additional, Mokni, M., additional, Laadjimi, A., additional, Kaabachi, N., additional, Perin, O., additional, Nilges, M., additional, Kassar, S., additional, Keirallah, M., additional, Guediche, M.N., additional, Kamoun, M.R., additional, Tebib, N., additional, Ben Dridi, M.F., additional, Boubaker, S., additional, Ben Osman, A., additional, and Abdelhak, S., additional

Published
2006
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47. A novel UBE3Atruncating mutation in large Tunisian Angelman syndrome pedigree

Author

Abaied, L., Trabelsi, M., Chaabouni, M., Kharrat, M., Kraoua, L., M'rad, R., Tebib, N., Maazoul, F., and Chaabouni, H.

Abstract

We identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 coding region, and we expect that the resulting UBE3A truncated protein in our patients is non‐functional since the mutation implies the catalytic region of the enzyme. The family includes 14 affected patients born from four sisters. This mutation was found in all surviving affected individuals and their mothers pointing out the importance of genetic counseling possibility in Angelman syndrome (AS). All patients had severe mental retardation with epilepsy and microcephaly. Minor clinical expression variation was observed among the investigated patients. The severity of clinical expression is related to the detected molecular variation: deletion of 15 bp and insertion of 7 bp. These results are concordant with the gene expression observed in previously reported individuals with AS and truncated UBE3A protein. © 2009 Wiley‐Liss, Inc.

Published
2010
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