28 results on '"M. Medhaffar"'
Search Results
2. PB1843: ACUTE MYELOID LEUKEMIA WITH PHILADELPHIA CHROMOSOME: EXPERIENCE OF SFAX HEMATOLOGY DEPARTMENT
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N. Siala, L. Khelifa, I. Frikha, F. Kallel, H. Sennana, S. Menif, N. Ben abdeljalil, S. Laddeb, Y. Fakhfekh, I. Ben Amor, O. Kassar, S. Hadiji, M. Charfi, T. Ben othmen, M. Medhaffar, and M. Elloumi
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Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2022
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3. PB1767: OUTCOME OF RELAPSED CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA IN THE SOUTH OF TUNISIA SINGLE CENTER EXPERIENCE
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N. Siala, I. Frikha, M. Medhaffar, I. Ben Amor, I. Turki, N. Ben Abdejallil, Y. Fakhfekh, N. Louati, O. kassar, M. Charfi, F. Kallel, L. Khelifa, S. hadiji, H. mnif, T. Ben Othmen, and M. Elloumi
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Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2022
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4. PB2095: RELAPSED AND REFRACTORY DIFFUSE LARGE B CELL LYMPHOMA: EXPERIENCE OF A LOW-INCOME CENTER IN TIME OF NEW DRUGS
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M. Charfi, G. Abichou, F. Kallel, I. Ben amor, L. Khelifa, I. Frikha, Y. Fakhfekh, O. Kassar, M. Medhaffar, S. Hdiji, and M. Elloumi
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Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2022
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5. PB2017: YOUNG PATIENTS WITH NEWLY DIAGNOSED MULTIPLE MYELOMA AND RENAL IMPAIRMENT: A TUNISIAN SINGLE-CENTER EXPERIENCE
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F. Kallel, K. Mezghani, N. Siala, Y. Fakhfekh, L. Khalifa, S. Hadiji, O. Kassar, I. Frikha, I. Ben Amor, M. Charfi, D. Balloumi, L. Torjmen, K. Kammoun, M. Ben Hamida, T. Ben Othmen, M. Medhaffar, and M. Elloumi
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Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2022
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6. PB2029: MULTIPLE MYELOMA AND SPINAL CORD COMPRESSION: THE EXPERIENCE OF THE HEMATOLOGY DEPARTMENT OF SFAX
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F. Kallel, N. Siala, K. Mezghani, M. Charfi, L. Ghorbel, H. Ben Salah, Y. Fakhfekh, O. Kassar, L. Khelifa, S. Hadiji, I. Frikha, I. Ben Amor, J. Daoued, M. Medhaffar, and M. Elloumi
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Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2022
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7. PB2093: DIFFUSE LARGE B CELL LYMPHOMA IN THE ELDERLY
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G. Abichou, M. Charfi, O. Kassar, F. Kallel, I. Saguem, W. Feki, I. Ben amor, W. Ben kridis, I. Frikha, L. Khelifa, Y. fakhfekh, N. Toumi, M. Medhaffar, S. Hdiji, T. Boudawara, Z. Mnif, and M. Elloumi
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Diseases of the blood and blood-forming organs ,RC633-647.5 - Published
- 2022
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8. Syndrome de Budd–Chiari associé à un POEMS syndrome
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Moez Elloumi, H. Smaoui, Nabil Tahri, Y. Fakhfakh, M. Medhaffar, and Lassaad Chtourou
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Gastroenterology ,Internal Medicine - Published
- 2021
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9. Évaluation des pratiques à propos de la réactivation virale B chez les patients recevant un traitement immunosuppresseur
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M. Medhaffar, L. Mnif, F. Kallel, Ali Amouri, Lassaad Chtourou, M. Boudabous, H. Gdoura, Moez Elloumi, and Nabil Tahri
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Gastroenterology ,Internal Medicine - Abstract
Introduction La reactivation du virus de l’hepatite B (VHB) est une situation de plus en plus frequente avec l’utilisation plus large des immunosuppresseurs et des anticorps monoclonaux. Cette reactivation peut engager le pronostic vital des patients. L’objectif de ce travail est d’evaluer les pratiques de depistage et de prise en charge du risque de reactivation virale B chez les patients recevant un traitement immunosuppresseur ou immunomodulateur. Materiels et methodes Il s’agit d’une enquete descriptive transversale, realisee aupres de medecins specialistes en hematologie, carcinologie, medecine interne, rhumatologie et dermatologie. Une serie de 15 questions, destinees a evaluer les pratiques de depistage et de prise en charge du risque de reactivation virale B chez les patients recevant ou amenes a recevoir un traitement immunosuppresseur ou immunomodulateur etait soumise a chaque praticien. Les donnees etaient saisies et analysees par un logiciel SPSS. Resultats Au total, 42 medecins parmi 50 sollicites, avaient repondu au questionnaire. Un depistage de l’infection par le VHB etait realise chez 37 %, 58 % et 75 % des patients recevant ou amenes a recevoir des corticoides, d’autres immunosuppresseurs ou des biotherapies respectivement. Trente-deux pour cent des praticiens avaient deja ete confrontes a une ou plusieurs reactivations virales B, essentiellement avec le rituximab. Chez les patients a risque et debutant un traitement immunosuppresseur ou immunomodulateur, 23 % des praticiens envisageaient un traitement prophylactique et 77 % proposaient un traitement preemptif en cas de reactivation confirmee. La vaccination systematique des patients seronegatifs pour le VHB etait prescrite dans moins de 40 % des cas. Enfin, 83 % des praticiens pensaient ne pas etre suffisamment informes a propos du risque et de la prise en charge de cette reactivation virale. Conclusion L’etude des pratiques de depistage de la reactivation du VHB souligne la necessite de sensibiliser les praticiens sur ce risque de reactivation virale et sa prise en charge selon les recommandations actuelles.
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- 2020
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10. A probably isolated subclavicular lymphadenopathy in acute leukemia: An unusual localisation of cryptococcosis
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M. Medhaffar, L. Kammoun, I. Maaloul, M. Elloumi, L. Ayadi, and H. Harrabi
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Cryptococcus neoformans ,Pathology ,medicine.medical_specialty ,Acute leukemia ,biology ,medicine.diagnostic_test ,Cancer ,biology.organism_classification ,medicine.disease ,Infectious Diseases ,Cryptococcosis ,Biopsy ,medicine ,Complication ,Fluconazole ,Mycosis ,medicine.drug - Abstract
Summary Introduction Cryptococcus neoformans ( C. neoformans ) is a fungal opportunistic pathogen which infects immunocompromised patients, especially those who are seropositive for the human immunodeficiency virus (HIV) and those with lymphoproliferative malignancies. Lungs and meninx are the most frequently involved sites, but isolated lymph nodes are less infected. Case report We report the observation of an 18-year-old-patient, receiving chemotherapy for a lymphoblastic acute leukemia, who developed an isolated subclavicular lymphadenopathy. The diagnosis of cryptococcal lymphadenitis was confirmed by fine needle aspiration cytology and biopsy. Surgery and fluconazole allowed a favourable outcome. Conclusion Isolated cryptococcal lymphadenopathy is a rare complication that occurs in patients with hematological malignancies. The diagnosis is based on culture and/or fine needle aspiration cytology and/or biopsy. The prognosis is favourable with surgical treatment and antifungal therapy.
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- 2010
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11. Rechute extramédullaire annexielle isolée d’une leucémie aiguë lymphoblastique : à propos d’un cas
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K. Maazoun, A. Moussa, I. Frikha, T. Souissi, N. Gouiaa, M. Medhaffar, M. Elloumi, S. Hdiji, and Hatem Bellaaj
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Chemotherapy ,medicine.medical_specialty ,medicine.diagnostic_test ,Medullary cavity ,business.industry ,medicine.medical_treatment ,Pelvic mass ,Cancer ,Ovary ,medicine.disease ,Surgery ,medicine.anatomical_structure ,Acute lymphocytic leukemia ,Pediatrics, Perinatology and Child Health ,Biopsy ,Medicine ,business ,Nuclear medicine ,Fallopian tube - Abstract
The occurrence of an isolated ovarian or pelvic relapse of acute lymphoblastic leukemia (ALL) in complete remission after chemotherapy has rarely been described. We report the case of a 12-year-old girl, treated for ALL, who developed an isolated left ovarian and fallopian tube localization without medullary or blood relapse 4 years after the end of the initial treatment. She presented with an isolated pelvic mass. The diagnosis was established by a CT-guided biopsy. The treatment consisted of a second course of chemotherapy and complementary surgery; a second complete remission was obtained.
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- 2009
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12. Évaluation d’un protocole thérapeutique prospectif des aplasies médullaires acquises non sévères de l’adulte dans le Sud tunisien
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Moez Elloumi, O. Kassar, H. Rekik, Choumous Kallel, T. Souissi, Hatem Bellaaj, M. Medhaffar, and S. Hdiji
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Gynecology ,medicine.medical_specialty ,business.industry ,Gastroenterology ,Internal Medicine ,Medicine ,Acquired aplastic anemia ,business - Abstract
Resume Introduction Les immunosuppresseurs sont habituellement indiques dans le traitement de premiere ligne des formes non severes de l’aplasie medullaire acquise (AMA). Le but de ce travail etait d’evaluer l’efficacite d’un protocole prospectif associant la ciclosporine aux androgenes dans le traitement des AMA non severes de l’adulte. Methodes Vingt-neuf cas diagnostiques et suivis a Sfax ont ete inclus sur une periode de dix ans (1991–2000). Mis a part le traitement symptomatique, tous nos patients ont recu un traitement specifique comportant une bitherapie a base de ciclosporine a la dose de 5 mg/kg par jour et des androgenes a la dose de 0,5 mg/kg par jour. Resultats Les taux de reponses a trois mois, a six mois et a 12 mois sont respectivement de 48, 75 et 87 %. Les taux de survies sont de 52 % a un an et de 37 % a cinq et dix ans. Les principales toxicites etaient hepatiques et renales ainsi que l’hypertension arterielle, qui ont ete observees chez respectivement 53, 16 et 15 % des patients avec une reversibilite respective dans 65, 87 et 100 % des cas. Conclusion Les taux de reponse et de survie dans notre serie sont assez satisfaisants comparativement a ceux obtenus par les immunosuppresseurs (serum antilymphocytaire et ciclosporine) dans la litterature. L’association des androgenes a permis de potentialiser l’immunosuppression induite par la ciclosporine mais au prix d’effets secondaires plus importants.
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- 2008
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13. Déficit congénital en facteur XIII de la coagulation dans le sud tunisien
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Sondes Mseddi, Hatem Bellaaj, T. Souissi, Fattouma Makni, S. Guermazi, M. Elloumi, M. Medhaffar, and Choumous Kallel
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Gynecology ,medicine.medical_specialty ,business.industry ,Context (language use) ,General Medicine ,medicine.disease ,Factor XIII ,Surgery ,Coagulation ,Blood plasma ,Coagulopathy ,Medicine ,Factor XIII deficiency ,Fresh frozen plasma ,business ,medicine.drug ,Congenital disorder - Abstract
Factor XIII deficiency is a rare autosomal recessive congenital disorder of haemostasis characterised by a plasmatic factor XIII level less than 1% in homozygote and bleeding as of the youth. We report a study about ten patients with congenital factor XIII deficiency from seven south-Tunisian families, there are seven females. Umbilical bleeding was common and only two patients had intracranial bleeding. The standard screening tests are normal. Factor XIII activity was less than 1% in all patients. A sub-unit A deficit was detected for the ten patients. Out hemorrhagic context, five patients receive regular prophylactic transfusion with fresh frozen plasma.
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- 2006
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14. [Isolated extramedullary adnexal relapse of acute lymphoblastic leukemia: a case report]
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H, Bellaaj, A, Moussa, N, Gouiaa, K, Maazoun, I, Frikha, M, Medhaffar, S, Hdiji, M, Elloumi, and T, Souissi
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Biopsy ,Ovariectomy ,Ovary ,Remission Induction ,Precursor Cell Lymphoblastic Leukemia-Lymphoma ,Combined Modality Therapy ,Magnetic Resonance Imaging ,Adnexa Uteri ,Leukemic Infiltration ,Antineoplastic Combined Chemotherapy Protocols ,Retreatment ,Humans ,Female ,Child ,Tomography, X-Ray Computed ,Fallopian Tubes ,Follow-Up Studies ,Ultrasonography - Abstract
The occurrence of an isolated ovarian or pelvic relapse of acute lymphoblastic leukemia (ALL) in complete remission after chemotherapy has rarely been described. We report the case of a 12-year-old girl, treated for ALL, who developed an isolated left ovarian and fallopian tube localization without medullary or blood relapse 4 years after the end of the initial treatment. She presented with an isolated pelvic mass. The diagnosis was established by a CT-guided biopsy. The treatment consisted of a second course of chemotherapy and complementary surgery; a second complete remission was obtained.
- Published
- 2008
15. [Evaluation of a prospective therapeutic protocol in adult patients with nonsevere aplastic anemia in South Tunisia]
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H, Bellaaj, C, Kallel, M, Elloumi, H, Rekik, O, Kassar, S, Hdiji, M, Medhaffar, and T, Souissi
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Adult ,Male ,Time Factors ,Administration, Oral ,Anemia, Aplastic ,Kaplan-Meier Estimate ,Middle Aged ,Prognosis ,Anti-Bacterial Agents ,Treatment Outcome ,Clinical Protocols ,Androgens ,Cyclosporine ,Humans ,Blood Transfusion ,Drug Therapy, Combination ,Female ,Prospective Studies ,Immunosuppressive Agents ,Aged - Abstract
Immunosuppressive drugs are usually used in the treatment of acquired aplastic anemia (AAA). The aim of this study was to evaluate the efficiency of a prospective therapeutic protocol using cyclosporine and androgens in the treatment of adult patients with nonsevere AAA.Twenty-nine patients diagnosed and treated at the University Hospital of Sfax (Tunisia), during a 10-year period (1991-2000) were included. In addition to symptomatic treatment (transfusion, antibiotics), all the patients received a specific treatment including two drugs: cyclosporine 5mg/kg per day and androgens 0,5mg/kg per day.The response rate at three, six and 12 months were 48, 75, and 87%, respectively. Survival rate was 52% at one year, and 37% at five and 10 years. The main toxicities were hepatic, renal, and hypertension, observed in 53, 16 and 15%, respectively. These toxicities were reversible in 65, 87 and 100% of the cases, respectively.The response and survival rates in our series are quite satisfactory when compared to those obtained with other immunosuppressive drugs (cyclosporine and antilymphocyte serum) in the literature. The addition of androgens in our patients seemed to potentiate the immunosuppression induced by ciclosporin, but secondary toxic effects were more common.
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- 2007
16. [Congenital factor XIII deficiency in the south of Tunisia]
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M, Medhaffar, M, Elloumi, S, Guermazi, C, Kallel, S, Mseddi, H, Bellaaj, F, Makni, and T, Souissi
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Male ,Tunisia ,Humans ,Female ,Factor XIII Deficiency - Abstract
Factor XIII deficiency is a rare autosomal recessive congenital disorder of haemostasis characterised by a plasmatic factor XIII level less than 1% in homozygote and bleeding as of the youth. We report a study about ten patients with congenital factor XIII deficiency from seven south-Tunisian families, there are seven females. Umbilical bleeding was common and only two patients had intracranial bleeding. The standard screening tests are normal. Factor XIII activity was less than 1% in all patients. A sub-unit A deficit was detected for the ten patients. Out hemorrhagic context, five patients receive regular prophylactic transfusion with fresh frozen plasma.
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- 2005
17. Imatinib mesylate-induced acute hepatotoxicity.
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Frikha I, Fakhfakh Y, Sahnoun R, Chtourou L, Medhaffar M, and Elloumi M
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- Humans, Male, Middle Aged, Antineoplastic Agents adverse effects, Protein Kinase Inhibitors adverse effects, Treatment Outcome, Chemical and Drug Induced Liver Injury etiology, Imatinib Mesylate adverse effects, Leukemia, Myelogenous, Chronic, BCR-ABL Positive drug therapy
- Abstract
Introduction: Imatinib is a first-line selective tyrosine kinase inhibitor used for the treatment of chronic myeloid leukemia. Although imatinib-induced hepatotoxicity may aggravate the patient's clinical condition and alter the treatment plan, the mechanism of imatinib-induced hepatotoxicity has rarely been investigated., Case Report: We report a 51-year-old man, suffering from acute toxic hepatitis after 5 months of imatinib treatment for chronic myeloid leukemia., Management and Outcome: The outcome was favorable after discontinuation of treatment with normalization of biological liver function after 12 weeks. The treatment was switched to nilotinib without any incidents., Discussion: Regular liver function test monitoring is recommended during imatinib treatment. In fact of acute hepatic toxicity, treatment with imatinib should be stopped in the case of cytolysis more than five times the upper limit of normal., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
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- 2023
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18. Prospective observational study of palliative care in hematological malignancies: Report of one year of practice.
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Kallel F, Masmoudi S, Kassar O, Mallek R, Medhaffar M, and Elloumi M
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- Aged, Humans, Palliative Care, Prospective Studies, Quality of Life, Hematologic Neoplasms therapy, Hematology
- Abstract
Introduction: Palliative care is an approach that improves the quality of life of patients with advanced disease., Objective: The aim of this study is to evaluate the process of palliative care in patients with hematologic malignancies., Methods: In this prospective observational study, we included patients with hematologic malignancies who received palliative care over a 12 month period from June 1, 2019, to May 31, 2020 at the day care hospital of the hematology department in University Hospital of Sfax, Tunisia. Blood transfusion was used to relieve symptoms of anemia and bleeding., Results: Fifty-five patients were included. The median age was 68 years. Forty-three percent of patients were diagnosed with acute leukemia and 41.8% with myelodysplastic syndrome. Red cell and platelet transfusions were indicated in 94.5% and 36.3% of cases respectively. Patients reported improvement after blood transfusion in 50% of cases. Twenty-five transfusion reactions (45%) were noted. Fever was noted in 33 patients (60%), with documented sites of infection in 84.8% of them. Pulmonary infection was frequently noted (50%). Antimicrobial treatment was prescribed in all febrile cases. Pain was reported in 22 patients and in 77.5% of these cases, it was nociceptive. Patients who received analgesics showed clinical improvement in pain in 81% of cases. Anorexia with malnutrition was reported in 23% of cases which was treated with enteral nutrition in 75% of cases. Sleep disturbance (20 patients), anxiety (7 patients), and depression (4 patients) were mentioned respectively., Conclusion: Palliative care in hematology should be a multidisciplinary care approach with a global management of the various physical, psychological and sociological complications., (Copyright © 2021 Société française de transfusion sanguine (SFTS). Published by Elsevier Masson SAS. All rights reserved.)
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- 2022
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19. Overexpression of P-glycoprotein and resistance to Imatinib in chronic myeloid leukemia patients.
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Ammar M, Louati N, Frikha I, Medhaffar M, Ghozzi H, Elloumi M, Menif H, Zeghal K, and Ben Mahmoud L
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- Case-Control Studies, Female, Follow-Up Studies, Humans, Leukemia, Myelogenous, Chronic, BCR-ABL Positive metabolism, Leukemia, Myelogenous, Chronic, BCR-ABL Positive pathology, Male, Middle Aged, Prognosis, Retrospective Studies, Survival Rate, ATP Binding Cassette Transporter, Subfamily B, Member 1 metabolism, Antineoplastic Agents pharmacology, Biomarkers, Tumor metabolism, Drug Resistance, Neoplasm, Imatinib Mesylate pharmacology, Leukemia, Myelogenous, Chronic, BCR-ABL Positive drug therapy
- Abstract
Background: The P-glycoprotein (P-gp) is one of the mechanisms of Imatinib (IM) resistance in chronic myeloid leukemia (CML). P-gp has been identified as an efflux pump involved in releasing of IM outside CML cells. To date, the P-gp involvement in the IM resistance development was not completely understood. Therefore, the present study aimed at measuring the P-gp expression level on lymphocytes from Tunisian patients with CML and correlating this level with a molecular response to IM., Method: The expression of P-gp on peripheral blood lymphocytes from 59 Tunisian patients with CML (27 IM responder patients vs 32 IM non-responder patients) was evaluated by flow cytometry., Result: Our finding showed significantly positive expression of P-gp in the lymphocytes from the IM non-responder group when compared to the IM-responder group (P = .001). In IM non-responder CML patients, the comparison between CCyR achievers and non-achievers showed a high mean fluorescence intensity (MFI) of P-gp expression in patients who did not achieve their CCyR (P = .001). The comparison between patients with primary and secondary resistance to IM showed an increasing MFI value in patients with primary resistance to IM (P = .001). Besides, the comparison between nilotinib-treated and dasatinib-treated patients proved a high value of MFI in nilotinib-treated patients (P = .001)., Conclusion: The overexpression of P-gp on lymphocytes has significantly correlated with the failed molecular response to IM in patients with CML., (© 2020 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)
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- 2020
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20. Relationship of oxidative stress in the resistance to imatinib in Tunisian patients with chronic myeloid leukemia: A retrospective study.
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Ammar M, Ben Mahmoud L, Medhaffar M, Ghozzi H, Sahnoun Z, Hakim A, Mseddi M, Elloumi M, and Zeghal K
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- Adult, Advanced Oxidation Protein Products blood, Antioxidants metabolism, Ascorbic Acid blood, Case-Control Studies, Drug Resistance, Neoplasm drug effects, Enzymes blood, Female, Glutathione blood, Humans, Leukemia, Myelogenous, Chronic, BCR-ABL Positive metabolism, Male, Malondialdehyde blood, Middle Aged, Oxidative Stress physiology, Treatment Outcome, Tunisia, Antineoplastic Agents pharmacology, Imatinib Mesylate pharmacology, Leukemia, Myelogenous, Chronic, BCR-ABL Positive drug therapy, Oxidative Stress drug effects
- Abstract
Background: This work aimed to evaluate oxidative stress in chronic myeloid leukemia (CML) patients treated with tunisian (IM) vs controls and in CML patients with resistance to IM vs patients without resistance to IM., Methods: The study included 40 CML patients and 34 controls. Of 40 patients with CML, 26 patients were developed in resistance to IM. The oxidant/antioxidant markers were evaluated by spectrophotometric methods for all used samples., Results: For CML patients, increased malondialdehyde (MDA) and advanced oxidation protein products (AOPP) levels were found compared to controls (P < .001; P = .01). Higher catalase (CAT) activity (P = .048) and lower superoxide dismutase (SOD) and glutathione peroxidase (GPx) activities, reduced Glutathione (GSH) and vitamin C levels were found in CML patients (P < .001). The comparison between the resistant vs no-resistant CML patients revealed higher MDA level (P = .02) and CAT and SOD activities in IM-resistant patients (P = .04, P = .03). GPx activity was reduced (P = .04). Furthermore, increased mean ratio of MDA/GSH, MDA/GPx, and SOD/(GPx + CAT) was found in IM-resistant patients as compared with no-resistant (P = .01, P = .01, P = .035). The mean ratio of GPx/GSH in the IM-resistant CML patients was lower than in IM no-resistant one (P = .039). For IM-resistant patients, we found negative correlation between MDA level and the ratio SOD/(CAT + GPx) (r = -0.46, P = .002); and positive correlation between SOD and (CAT + GPx) activities (r = 0.38, P = .06) and between GSH level and GPx activity (r = 0.53, P = .01)., Conclusions: Our results have shown a highly disturbed oxidative profile in IM-resistant CML patients as compared to no-resistant. The H
2 O2 has a key role in the resistance to IM treatment., (© 2019 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals, Inc.)- Published
- 2020
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21. Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression.
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Agrebi N, Sfaihi Ben-Mansour L, Medhaffar M, Hadiji S, Fedhila F, Ben-Ali M, Mekki N, Hachicha M, Barsaoui S, Barbouche MR, and Ben-Mustapha I
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- Autoimmune Lymphoproliferative Syndrome diagnosis, Humans, Immunophenotyping, Lymphocyte Count, Pedigree, T-Lymphocyte Subsets immunology, T-Lymphocyte Subsets metabolism, Autoimmune Lymphoproliferative Syndrome etiology, Autoimmune Lymphoproliferative Syndrome metabolism, Autoimmunity genetics, Genetic Predisposition to Disease, Homozygote, Mutation, fas Receptor genetics, fas Receptor metabolism
- Published
- 2017
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22. Original tandem duplication in FXIIIA gene with splicing site modification and four amino acids insertion causes factor XIII deficiency.
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Louhichi N, Haj Salem I, Medhaffar M, Miled N, Hadji AF, Keskes L, and Fakhfakh F
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- Amino Acids, Humans, Male, Middle Aged, Mutation, Transfection, Factor XIII Deficiency genetics, RNA Splicing genetics, Tandem Repeat Sequences genetics
- Abstract
: Recessive mutations of F13A gene are reported to be responsible of FXIIIA subunit deficiency (FXIIIA). In all, some intronic nucleotide changes identified in this gene were investigated by in-silico analysis and occasionally supported by experimental data or reported in some cases as a polymorphism. To determine the molecular defects responsible of congenital factor XIII deficiency in Libyan patient, molecular analysis was performed by direct DNA sequencing of the coding regions and splice junctions of the FXIIIA subunit gene (F13A). A splicing minigene assay was used to study the effect of this mutation. Bioinformatics exploration was fulfilled to conceive consequences on protein. A 12-bp duplication straddling the border of intron 9 and exon 10 leads to two 3' acceptor splice sites, resulting in silencing of the downstream wild 3' splice site. It caused an in-frame insertion of 12 nucleotides into mRNA and four amino acids into protein. Bioinformatic analysis predicts that the insertion of four amino acids affects the site 3 of calcium binding site, which disturbs the smooth function of the FXIIIA peptide causing the factor XIII deficiency. This study showed that a small duplication seems to weaken the original 3' splice site and enhance the activation of a new splice site responsible for an alternative splicing. It would be interesting to examine the underlying molecular mechanism involved in this rearrangement.
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- 2017
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23. [Primary immune thrombocytopenia in childhood: a regional study in the south of Tunisia].
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Sfaihi L, Kassar O, Medhaffar M, Kamoun T, Hadiji S, Aloulou H, Bellaj H, Ajmi N, Chabchoub I, Elloumi M, and Hachicha M
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- Adolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Retrospective Studies, Treatment Outcome, Tunisia, Purpura, Thrombocytopenic, Idiopathic drug therapy, Purpura, Thrombocytopenic, Idiopathic epidemiology
- Abstract
Background: the primary immune thrombocytopenia (ITP) in children has a favorable evolution in most of cases. aim: describe the epidemiological and therapeutic data and the outcome of primary immune thrombocytopenia in our patients and propose a treatment plan to standardize the management of this disease in our region. methods: We conducted a retrospective study of 140 cases of primary immune thrombocytopenia collected in department of pediatrics and hematology of Hedi Chaker hospital during a period of 15 years. Patients who had a platelet count ≤ 20 000 and / or mucosal or troublesome lifestyle hemorrhage were treated. results: The mean age was 6 years 7 months with extremes varying from 3 months to 15 years. The bleeding manifestations were dominated by cutaneous bleeding in the form of petechiae or bruise (100%). Epistaxis and gingivorragia were noted in 32,9% and 25,7% of the cases respectively. The most of patient were treated with corticosteroids (79%). Intravenous immunoglobulin was associated with corticosteroids in 7%. An acute ITP occurred in 94 cases (67%) and a chronic ITP in 30 cases (21%)., Conclusion: In the recently diagnosed ITP, the response delay under association Intravenous immunoglobulin and corticoids is shorter than that of corticoids alone, but the high cost of Intravenous immunoglobulin associated with their immediate side effects compels us to recommend corticoids as a first line of treatment.
- Published
- 2014
24. [Extra medullary hematopoiesis associated to congenital dyserythropoietic anemia II in adult].
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Jedidi I, Medhaffar M, Ghorbel M, Hdiji S, Makni F, Elloumi M, and Kallel C
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- Adult, Anemia, Dyserythropoietic, Congenital complications, Anemia, Dyserythropoietic, Congenital diagnosis, Anemia, Dyserythropoietic, Congenital pathology, Bronchopneumonia diagnosis, Bronchopneumonia etiology, Bronchopneumonia pathology, Female, Hematopoiesis, Extramedullary physiology, Humans, Middle Aged, Splenomegaly diagnosis, Splenomegaly etiology, Splenomegaly pathology, Anemia, Dyserythropoietic, Congenital physiopathology, Hematopoiesis, Extramedullary genetics
- Abstract
The congenital dyserythropoietic anemias comprise a group of rare hereditary disorders of erythropoiesis characterized by anemia with ineffective erythropoiesis and morphological abnormalities of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type II or HEMPAS is the more frequent type. It is rare in adults. Extra medullary hematopoiesis is also a rare entity; it is a physiological response to chronic anemia observed in certain hemopathies like congenital dyserythropoietic anemia type II. We report the observation of a patient for who diagnosis of extra medullary hematopoiesis associated to congenital dyserythropoietic type II was made in adulthood.
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- 2012
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25. Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect.
- Author
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Louhichi N, Medhaffar M, Hadjsalem I, Mkaouar-Rebai E, Fendri-Kriaa N, Kanoun H, Yaïch F, Souissi T, Elloumi M, and Fakhfakh F
- Subjects
- Amino Acid Sequence, Base Sequence, Factor XIII genetics, Factor XIII metabolism, Factor XIII Deficiency diagnosis, Factor XIIIa biosynthesis, Female, Haplotypes genetics, Humans, Male, Microsatellite Repeats genetics, Molecular Sequence Data, Pedigree, Tunisia, Factor XIII Deficiency genetics, Factor XIIIa genetics, Founder Effect, Frameshift Mutation genetics
- Abstract
Inherited factor XIII (FXIII) deficiency is a rare bleeding disorder characterized by an umbilical bleeding during the neonatal period, delayed soft tissue bruising, mucosal bleeding spontaneous intracranial hemorrhage, and soft tissue hemorrhages. Congenital FXIII deficiency is an autosomal recessive disorder, usually attributed to a defect in the FXIIIA and B subunits coding, respectively, by F13A and F13B genes. The aim of this study was to determine the molecular defects responsible for congenital factor XIII deficiency in eight Tunisian families. Molecular analysis was performed by direct DNA sequencing of polymerase chain reaction amplified fragments spanning the coding regions and splice junctions of the FXIIIA subunit gene (F13A) in probands and in families' members and compared with the reported sequence of this gene. In all patients, FXIIIA activity was undetectable and the FXIIIB was within the normal range. Direct sequencing of the F13A gene in all probands showed two mutations: the c.869insC mutation found in eight patients and the c.1226G > A transition found in only one. We also confirmed the presence of a founder effect for the first frequent mutation by using two microsatellite markers, HUMF13A01 and a generated ployAC marker (HUMF13A02). We describe here molecular abnormalities found in nine Tunisian probands diagnosed with FXIIIA deficiency. The identification of the founder mutation and polymorphisms allowed a genetic counseling in relatives of these families, and the antenatal diagnosis is now available.
- Published
- 2010
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26. [Isolated extramedullary adnexal relapse of acute lymphoblastic leukemia: a case report].
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Bellaaj H, Moussa A, Gouiaa N, Maazoun K, Frikha I, Medhaffar M, Hdiji S, Elloumi M, and Souissi T
- Subjects
- Adnexa Uteri surgery, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Biopsy, Child, Combined Modality Therapy, Female, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Ovariectomy, Precursor Cell Lymphoblastic Leukemia-Lymphoma drug therapy, Retreatment, Tomography, X-Ray Computed, Ultrasonography, Fallopian Tubes pathology, Leukemic Infiltration diagnosis, Ovary pathology, Precursor Cell Lymphoblastic Leukemia-Lymphoma diagnosis, Remission Induction
- Abstract
The occurrence of an isolated ovarian or pelvic relapse of acute lymphoblastic leukemia (ALL) in complete remission after chemotherapy has rarely been described. We report the case of a 12-year-old girl, treated for ALL, who developed an isolated left ovarian and fallopian tube localization without medullary or blood relapse 4 years after the end of the initial treatment. She presented with an isolated pelvic mass. The diagnosis was established by a CT-guided biopsy. The treatment consisted of a second course of chemotherapy and complementary surgery; a second complete remission was obtained.
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- 2009
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27. [Evaluation of a prospective therapeutic protocol in adult patients with nonsevere aplastic anemia in South Tunisia].
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Bellaaj H, Kallel C, Elloumi M, Rekik H, Kassar O, Hdiji S, Medhaffar M, and Souissi T
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- Administration, Oral, Adult, Aged, Androgens administration & dosage, Androgens adverse effects, Anemia, Aplastic diagnosis, Anemia, Aplastic mortality, Anemia, Aplastic therapy, Anti-Bacterial Agents administration & dosage, Anti-Bacterial Agents therapeutic use, Blood Transfusion, Clinical Protocols, Cyclosporine administration & dosage, Cyclosporine adverse effects, Drug Therapy, Combination, Female, Humans, Immunosuppressive Agents administration & dosage, Immunosuppressive Agents adverse effects, Kaplan-Meier Estimate, Male, Middle Aged, Prognosis, Prospective Studies, Time Factors, Treatment Outcome, Androgens therapeutic use, Anemia, Aplastic drug therapy, Cyclosporine therapeutic use, Immunosuppressive Agents therapeutic use
- Abstract
Introduction: Immunosuppressive drugs are usually used in the treatment of acquired aplastic anemia (AAA). The aim of this study was to evaluate the efficiency of a prospective therapeutic protocol using cyclosporine and androgens in the treatment of adult patients with nonsevere AAA., Methods: Twenty-nine patients diagnosed and treated at the University Hospital of Sfax (Tunisia), during a 10-year period (1991-2000) were included. In addition to symptomatic treatment (transfusion, antibiotics), all the patients received a specific treatment including two drugs: cyclosporine 5mg/kg per day and androgens 0,5mg/kg per day., Results: The response rate at three, six and 12 months were 48, 75, and 87%, respectively. Survival rate was 52% at one year, and 37% at five and 10 years. The main toxicities were hepatic, renal, and hypertension, observed in 53, 16 and 15%, respectively. These toxicities were reversible in 65, 87 and 100% of the cases, respectively., Conclusion: The response and survival rates in our series are quite satisfactory when compared to those obtained with other immunosuppressive drugs (cyclosporine and antilymphocyte serum) in the literature. The addition of androgens in our patients seemed to potentiate the immunosuppression induced by ciclosporin, but secondary toxic effects were more common.
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- 2008
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28. [Congenital factor XIII deficiency in the south of Tunisia].
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Medhaffar M, Elloumi M, Guermazi S, Kallel C, Mseddi S, Bellaaj H, Makni F, and Souissi T
- Subjects
- Factor XIII Deficiency genetics, Female, Humans, Male, Tunisia, Factor XIII Deficiency congenital
- Abstract
Factor XIII deficiency is a rare autosomal recessive congenital disorder of haemostasis characterised by a plasmatic factor XIII level less than 1% in homozygote and bleeding as of the youth. We report a study about ten patients with congenital factor XIII deficiency from seven south-Tunisian families, there are seven females. Umbilical bleeding was common and only two patients had intracranial bleeding. The standard screening tests are normal. Factor XIII activity was less than 1% in all patients. A sub-unit A deficit was detected for the ten patients. Out hemorrhagic context, five patients receive regular prophylactic transfusion with fresh frozen plasma.
- Published
- 2006
- Full Text
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