Ibn El Jazzar Hospital

Kairouan, Tunisia

Ibn El Jazzar Hospital

Kairouan, Tunisia

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Ben Charfeddine I.,University of Sousse | Riepe F.G.,University of Kiel | Clauser E.,Cochin University Hospital | Ayedi A.,Tahar Sfar Hospital | And 13 more authors.
Gene | Year: 2012

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease of steroid biosynthesis in humans. More than 90% of all CAH cases are caused by mutations of the 21-hydroxylase gene (CYP21A2), and approximately 75% of the defective CYP21A2 genes are generated through an intergenic recombination with the neighboring CYP21A1P pseudogene. In this study, the CYP21A2 gene was genotyped in 50 patients in Tunisia with the clinical diagnosis of 21-hydroxylase deficiency. CYP21A2 mutations were identified in 87% of the alleles. The most common point mutation in our population was the pseudogene specific variant p.Q318X (26%). Three novel single nucleotide polymorphism (SNP) loci were identified in the CYP21A2 gene which seems to be specific for the Tunisian population. The overall concordance between genotype and phenotype was 98%. With this study the molecular basis of CAH has been characterized, providing useful results for clinicians in terms of prediction of disease severity, genetic and prenatal counseling. © 2012 Elsevier B.V.


Achour A.,Research unit 03 UR 07 02 | Thabet Y.,Research unit 03 UR 07 02 | Sakly W.,Research unit 03 UR 07 02 | Mankai A.,Research unit 03 UR 07 02 | And 10 more authors.
Gastroenterologie Clinique et Biologique | Year: 2010

Aims: The purpose of this study was to determine the sensitivity and specificity of IgA anti-actin antibodies (IgA-AAA) for celiac disease (CD), to investigate their usefulness as a marker of compliance in CD patients to the gluten-free diet (GFD), and to assess the relationship between their presence in the sera of CD patients and severity of intestinal mucosal damage. Patients and methods: A total of 182 patients with CD were studied: 63 patients were untreated; 50 patients were following a strict GFD; and 69 patients were non-compliant with a GFD. IgA-AAA was detected using a homemade enzyme-linked immunosorbent assay (ELISA). Results: IgA-AAA showed a sensitivity of 41.3% and a specificity of 71.4% for a diagnosis of CD. In children, the frequency of IgA-AAA detection was lower in those following a strict GFD (23.1%) compared with untreated patients (39.4%) and those not complying with a GFD (32.5%). In patients following a strict GFD, IgA-AAA detection was significantly less frequent in children than in adults (23.1% vs. 58.3%, respectively; P< 0.001). IgA-AAA was found in 17 out of 52 CD patients with total villous atrophy (32.7%), and in one out of 11 patients with subtotal villous atrophy (9%). Conclusion: IgA-AAA cannot replace anti-endomysium and anti-tissue transglutaminase antibodies in the diagnosis algorithm of CD, but it can serve as a reliable marker of severe intestinal mucosal damage in CD patients. © 2010 Elsevier Masson SAS.


Ben Charfeddine I.,University of Sousse | Riepe F.G.,University of Kiel | Kahloul N.,Ibn El Jazzar Hospital | Kulle A.E.,University of Kiel | And 8 more authors.
General and Comparative Endocrinology | Year: 2012

Steroid 11β hydroxylase deficiency (11β-OHD) (OMIM # 202010) is the second most common form of congenital adrenal hyperplasia (CAH), accounting for 5-8% of all cases. It is an autosomal recessive enzyme defect impairing the biosynthesis of cortisol. The CYP11B1 gene encoding this enzyme is located on chromosome 8q22, approximately 40. kb from the highly homologous CYP11B2 gene encoding for the aldosterone synthase. Virilization and hypertension are the main clinical characteristics of this disease. In Tunisia, the incidence of 11β-OHD appears higher due to a high rate of consanguinity (17.5% of congenital adrenal hyperplasia). The identical presentation of genital ambiguity (females) and pseudo-precocious puberty (males) can lead to misdiagnosis with 21 hydroxylase deficiency. The clinical hallmark of 11β hydroxylase deficiency is variable, and biochemical identification of elevated precursor metabolites is not usually available. In order to clarify the underlying mechanism causing 11β-OHD, we performed the molecular genetic analysis of the CYP11B1 gene in a female patient diagnosed as classical 11β-OHD. The nucleotide sequence of the patient's CYP11B1 revealed two novel mutations in exon 4: a missense mutation that converts codon AGT (serine) to ATT (isoleucine) (c.650G>T; p.S217I) combined with an insertion of a thymine at the c.652-653 position (c.652_653insT). This insertion leads to a reading frame shift, multiple incorrect codons, and a premature stop in codon 258, that drastically affects normal protein function leading to a severe phenotype with ambiguous genitalia of congenital adrenal hyperplasia due to 11β hydroxylase deficiency. © 2011 Elsevier Inc.


Belaid I.,Ibn El Jazzar Hospital | Chabchoub I.,University of Sousse | Mejri N.,University of Sousse | Zaghouani H.,University of Sousse | And 6 more authors.
European Journal of Gastroenterology and Hepatology | Year: 2013

Background: Primary gastric lymphomas (PGL) are rare and represent only 5% of gastric malignancies, but are apparently increasing in incidence worldwide. Optimal treatment of PGL remains controversial. The aim of this study was to evaluate clinicopathological characteristics, prognostic factors, survival rates, and treatment modalities in Tunisian patients with PGL. METHODS: We retrospectively analyzed data from patients treated for PGL in our hospital over an 18-year period (1994-2011). Results: Data from 128 patients with PGL were retrospectively analyzed. Eighty-four were males and the median age was 57 years (range 5-89 years). The mean BMI was 22.9 (15-39). A total of 40 patients (31.2%) had a poor performance status (PS). The antrum was the most commonly involved site (52 cases, 40.6%). The most frequent pathological subtypes were diffuse large-cell lymphomas (46.4%) and mucosa-associated lymphoid tissues (32%). Disease was localized (stages IE and IIE) in 97 patients (75.8%). Ninety-six patients were evaluable. Chemotherapy alone was used in 73 (76%) patients, with 76.7% achieving complete remission. During chemotherapy, there were no severe complications requiring urgent surgery. Actuarial five-year overall and event-free survival were 60.2 and 54.3% respectively. We found no statistically significant difference in survival between patients treated with surgery and those treated by a conservative strategy. In the multivariate study, age greater than 60 years, poor PS, and BMI less than 20 were significant prognostic factors for overall survival (P=0.04, 0.009, and <0.001, respectively). Conclusion: Surgery provides no advantage for survival over conservative treatment. Age, PS, and BMI were effective prognostic factors.


Amara A.,University of Sousse | Adala L.,University of Sousse | Ben Charfeddine I.,University of Sousse | Mamai O.,University of Sousse | And 8 more authors.
European Journal of Paediatric Neurology | Year: 2012

Objectives: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder which is characterized by a high clinical variability with severe, intermediate, mild and adult forms. These forms are caused, in 95% of cases, by a homozygous deletion of exon 7 of SMN1 gene. Our purpose was the determination of a possible genotype-phenotype correlation between the copy number of SMN2, NAIP, p44, H4F5 and occludin genes localized in the same SMN1 region (5q13) and the severity of the disease in SMA Tunisian patients. Patients and methods: Twenty six patients affected by SMA were enrolled in our study. MLPA and QMPSF were used to measure copy numbers of these genes. Results: We found that 31.3% of type I patients carried one copy of SMN2, while all patients of other forms had at least 2 copies. NAIP was absent in 87.5% of type I patients. Furthermore, all SMA type I patients had one copy of H4F5. No correlation was found for p44 and occludin genes. Conclusion: There is a close relationship between SMN2, NAIP and H4F5 gene copy number and SMA disease severity, which is compatible with the previous reports. © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.


Ben Charfeddine I.,University of Sousse | Ben Lazreg T.,University of Sousse | Msakni A.,University of Sousse | Amara A.,University of Sousse | And 13 more authors.
Hemoglobin | Year: 2015

The β hemoglobinopathies [β-thalassemia (β-thal) and structural hemoglobin (Hb) variants such as Hb S (HBB: c.20A > T) and Hb E (HBB: c.79G > A)] are among the most common inherited diseases worldwide. In Tunisia, due to the high prevalence of consanguineous marriages, the recurrent risk of this disease is high. The average prevalence of hemoglobinopathies is 4.48%, reaching 12.50% in some focus regions. The molecular investigations on thalassemia contributed to establishing the spectrum of mutations in the Tunisian population. The total number of HBB gene mutations identified was 24. The two most frequent mutations, codon 39 (C > T) (HBB: c.118C > T) and IVS-I-110 (G > A) (HBB: c.93-21G > A) accounted for 70.0% of the total encountered β-thal cases. These two mutations together with IVS-I-2 (T > G) (HBB: c.92 + 2T > G) and the Hb S variant account for more than 90.0% of all HBB genetic variants in Tunisia. Thus, developing rapid, inexpensive and reliable mutation-specific molecular diagnostic assays targeting our Tunisian populations is our aim to facilitate routine detection of hemoglobinopathies. In this report, we describe the successful application of the multiplex minisequencing assay as an alternative strategy for genetic diagnosis of HBB gene disorders in Tunisia. © 2015 Informa Healthcare USA, Inc.

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