المؤلفون: Leila Achouri, Leila Mouelhi, Y Zaimi, Meriem Bouzrara, Linda Bel Hadj Kacem, Yosra Said, M Ayari, A. Mensi, Radhouane Debbeche

المصدر: The Application of Clinical Genetics

مصطلحات موضوعية: 0301 basic medicine, Hypertrichosis, Pathology, medicine.medical_specialty, SLC29A3 gene, H syndrome, rare disease, Case Report, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Pleiotropism, Ascites, Genetics, medicine, Meigs' syndrome, Tunisian patient, Genetics (clinical), business.industry, medicine.disease, Serous Cystadenoma, pseudo-Meigs’ syndrome, Hyperpigmentation, 030104 developmental biology, medicine.symptom, business, 030217 neurology & neurosurgery, Rare disease

الوصف: H syndrome is an extremely rare autosomal recessive affection caused by biallelic mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter hENT3. The hallmark signs are cutaneous consisting of hyperpigmentation and hypertrichosis patches. Besides, associated systemic manifestations are highly various reflecting phenotypic pleiotropism. Herein, we report a first case of pseudo-Meigs’ syndrome occurring in a young Tunisian H syndrome diagnosed patient with a novel homozygous frameshift mutation in exon 2 of the SLC29A3 gene: p.S15Pfs*86 inducing a premature stop codon. The patient developed ascites associated with left ovarian mass and she underwent surgery. After tumor resection, ascites disappeared rapidly. Histological examination showed serous cystadenoma of the ovary orienting the diagnosis towards pseudo-Meigs’ syndrome.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0467584a527f3b693ca91dde9d5972dTest
http://europepmc.org/articles/PMC8055247Test

المؤلفون: Taieb Jomni, Abdelwaheb Nakhli, Syrine Bellakhal, Zeineb Teyeb, Imen Abdelaali, M Ayari

المصدر: Clinical Case Reports, Vol 9, Iss 3, Pp 1759-1762 (2021)
Clinical Case Reports

مصطلحات موضوعية: Intestinal pseudo-obstruction, Systemic disease, medicine.medical_specialty, lcsh:Medicine, Case Report, Case Reports, systemic disease, 030204 cardiovascular system & hematology, urologic and male genital diseases, dysmotility, 03 medical and health sciences, 0302 clinical medicine, immune system diseases, medicine, skin and connective tissue diseases, intestinal pseudo‐obstruction, lcsh:R5-920, Systemic lupus erythematosus, Systemic lupus, business.industry, lcsh:R, General Medicine, lupus, medicine.disease, Dermatology, Corticosteroid therapy, 030220 oncology & carcinogenesis, Presentation (obstetrics), business, lcsh:Medicine (General)

الوصف: Systemic diseases should be always considered when managing unexplained intestinal pseudo‐obstruction. Intestinal pseudo‐obstruction related to systemic lupus erythematosus is often responsive to corticosteroid therapy when promptly treated.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b471539d73202b3ba1c3489f1883be1Test
https://doaj.org/article/3dfe50fa9adf4799bdd24dc6515f4efaTest

المؤلفون: H. Ben Ayed, M. Boudokhane, S. Eya, R. Bourguiba, Z. Teyeb, M. Ayari, B. Syrine, M. Dougui

المصدر: Revue du Rhumatisme. 89:A230

مصطلحات موضوعية: Rheumatology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c8907d50cc24e36234d380ef8fefcc08Test
https://doi.org/10.1016/j.rhum.2022.10.358Test

المؤلفون: Y Zaimi, S Ayadi, Radhouane Debbeche, Yosra Said, M Ayari, A. Mensi, Emna Chelbi, Leila Mouelhi

المصدر: Clinical Case Reports
Clinical Case Reports, Vol 9, Iss 4, Pp 2442-2444 (2021)

مصطلحات موضوعية: Medicine (General), medicine.medical_specialty, Anemia, Hemodynamics, Case Report, Context (language use), Case Reports, acute liver injury, 030204 cardiovascular system & hematology, Gastroenterology, 03 medical and health sciences, R5-920, 0302 clinical medicine, G6PD deficiency, hemic and lymphatic diseases, Internal medicine, medicine, Liver injury, business.industry, General Medicine, Hypoxia (medical), medicine.disease, anemia, Respiratory failure, 030220 oncology & carcinogenesis, Shock (circulatory), Medicine, medicine.symptom, business, hypoxic hepatitis, Glucose-6-phosphate dehydrogenase deficiency

الوصف: Hypoxic hepatitis may occur due to hemodynamic mechanisms of hypoxia secondary to anemia without any context of reduced blood flow, respiratory failure, or shock state. Etiology of anemia should be investigated in order to avoid recurrence.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d8d7e47a17921a4cb354c16f2b8e8ffTest
https://doi.org/10.1002/ccr3.4061Test

المؤلفون: Myriam Jrad, Y Zaimi, S Ayadi, Feryel Letaief Ksontini, Emna Bel Hadj Mabrouk, Walid Cherifi, M Ayari

المصدر: BMJ Open Gastroenterology, Vol 8, Iss 1 (2021)
BMJ Open Gastroenterology

مصطلحات موضوعية: medicine.medical_specialty, Cirrhosis, Hepatitis C virus, Lymphoproliferative disorders, lymphoma, Hepacivirus, RC799-869, medicine.disease_cause, Antiviral Agents, Gastroenterology, Liver disease, Internal medicine, antiviral therapy, medicine, Humans, B-cell lymphoma, Hepatology, business.industry, cirrhosis, Liver Neoplasms, Hepatitis C, Hepatitis C, Chronic, Diseases of the digestive system. Gastroenterology, medicine.disease, Transplantation, Hepatocellular carcinoma, HCV, Lymphoma, Large B-Cell, Diffuse, business

الوصف: Hepatitis C virus (HCV) infection is a major public health concern worldwide, raising important medical and economic issues. HCV-related end-stage liver disease is one of the most common indications for hepatic transplantation. Chronic hepatitis C is also assimilated to a systemic disease because of multiple extrahepatic manifestations, including lymphoproliferative disorders. The revolution of HCV treatment with the advent of direct-acting antivirals has significantly improved the management with high antiviral efficacy and good safety profile compared with old regimens, thus allowing good outcomes on hepatic and extrahepatic symptoms. However, with the widespread use of these new agents, controversial concerns about unexpected increasing cases of hepatocellular carcinoma were reported. We now report the case of a patient presenting with HCV-related cirrhosis, treated with direct-antiviral therapy and diagnosed with primary hepatic lymphoma shortly after the end of the treatment.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01c40752b7b689e1a09fb11138ab115aTest
https://bmjopengastro.bmj.com/content/8/1/e000721.fullTest

المؤلفون: A. Chehaider, M. Ayari, M. Mtir, R. Bourguiba, W. Khemiri, M. Boudokhane, Z. Teyeb, I. Abdelaali, S. Bellakhal, T. Jomni, M.H. Douggui

المصدر: La Revue de Médecine Interne. 43:A210

مصطلحات موضوعية: Gastroenterology, Internal Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::586667cf7334a17bc4ec19596cd88606Test
https://doi.org/10.1016/j.revmed.2022.03.152Test

المؤلفون: A. Chehaider, M. Ayari, H. Ben Ayed, W. Khemiri, R. Bourguiba, M. Boudokhane, I. Abdelaali, S. Bellakhal, T. Jomni

المصدر: La Revue de Médecine Interne. 43:A229

مصطلحات موضوعية: Gastroenterology, Internal Medicine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4b4b35d87b5ff7abe360e66ae1a50fdbTest
https://doi.org/10.1016/j.revmed.2022.03.184Test

المؤلفون: M Ayari, R. Dabbeche, Yosra Said, S Ayadi, E Bel Hadj Mabrouk, Leila Mouelhi, Y Zaimi, A. Mensi

المصدر: ESGE Days 2021.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b6d3592c5571b233867a6300febc67d1Test
https://doi.org/10.1055/s-0041-1724454Test

المؤلفون: Leila Mouelhi, M Ayari, A. Mensi, Y Zaimi, S Ayadi, S. Yosra, R. Dabbeche, E Bel Hadj Mabrouk

المصدر: La Revue de Médecine Interne. 42:A126-A127

مصطلحات موضوعية: Gastroenterology, Internal Medicine

الوصف: Introduction Depuis leur avenement les anti-TNF sont devenus une classe therapeutique incontournable, ayant revolutionne la prise en charge de plusieurs pathologies dont les maladies inflammatoires chroniques de l’intestin (MICI). Neanmoins cette biotherapie expose a un risque eleve d’infection opportuniste dont la tuberculose. Bien que le depistage d’une tuberculeuse latente soit systematique dans le bilan pre-therapeutique par la realisation de l’intradermoreaction (IDR) a la tuberculine et/ou le test de liberation de l’interferon in vitro (QuantiFERON), le risque d’une infection tuberculeuse est loin d’etre nul. Nous rapportons les cas de deux patientes suivies a notre service ayant developpe une tuberculose sous traitement anti-TNFa. Observation Observation 1 : Il s’agissait d’une patiente âgee de 34 ans suivie depuis 10 ans pour une maladie de Crohn ileale stenosante et fistulisante corticodependante avec echec de l’azathioprine. La decision etait de la mettre sous anti-TNFa : l’Adalimumab. Dans le cadre du bilan pre-therapeutique, l’intradermoreaction (IDR) a la tuberculine ainsi que le test de liberation de l’interferon gamma in vitro (QuantiFERON) etaient negatifs. La radiographie thoracique ne montrait pas d’anomalies. Trois mois apres le traitement, la patiente a developpe une ascite exsudative evoluant dans un contexte febrile avec sueurs nocturnes. L’imagerie scannographique montrait un epanchement peritoneale de grande abondance avec rehaussement des feuillets peritoneaux associes a des ganglions cœlio-mesenteriques necroses. La patiente a eu une cœlioscopie diagnostique ayant montre un peritoine parseme de granulations blanchâtres. L’examen anatomopathologique des biopsies peritoneales a montre des granulomes avec necrose caseeuse. Le Quantiferon refait est reste negatif. L’Adalimumab a ete arrete et la patiente a ete mise sous traitement antituberculeux avec une bonne evolution clinique. Observation 2 : C’etait le cas d’une femme de 45 ans suivie pour une maladie de Crohn ileo-caecal avec lesions ano-perineales posant l’indication a un traitement anti-TNFa par Infliximab associe a l’azathioprine. Le bilan tuberculeux comportant une IDR, un Quantiferon et la recherche de bacille de Koch etait negatif. Apres le traitement d’attaque, soit a la sixieme semaine, la patiente a developpe une fievre avec sueurs nocturnes et anorexie. Un scanner thoraco-abdomino-pelvien etait realise montrant a l’etage thoracique des adenopathies mediastinales necrotiques avec une hepatosplenomegalie nodulaire, ensemble lesionnel compatible avec une tuberculose secondaire. Un traitement antituberculeux etait demarre avec bonne evolution. Conclusion En depit des recommandations de prevention, le risque de reactivation d’une tuberculose latente sous traitement anti-TNFa persiste. La denutrition des patients porteurs de MICI pourrait expliquer la negativite des tests de depistage (IDR et Quantiferon). Une prophylaxie antituberculeuse devrait etre largement prescrite chez les patients a risque.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2e2408a800158d30e4abe27d39d99388Test
https://doi.org/10.1016/j.revmed.2021.03.078Test

المؤلفون: M. Ayari, R Ennaifer, B. Bouchabou, HB Nejma, S Nsibi

المصدر: ESGE Days.

مصطلحات موضوعية: medicine.medical_specialty, Hemorrhoids, Quality of life, business.industry, medicine, business, medicine.disease, Endoscopic ligation, Surgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d0dbf3e8f5ad79b8ff67e6f966deca2dTest
https://doi.org/10.1055/s-0040-1704443Test