Alexithymia impairs quality of life in irritable bowel syndrome.

Aim: Our objectives were to compare the frequency of alexithymia and the alteration of quality of life in irritable bowel syndrome (IBS) and to determine the factors associated with alexithymia and quality of life deterioration. Method: This is a comparative study which collected 80 IBS patients and 80 controls. Results: Quality of life was impaired in 75% of patients vs 37.5% (p < 0.0001). The prevalence of alexithymia was 50% in patients vs 1.2% (p < 0.0001). In multivariate analysis, an impaired quality of life was associated with alexithymia (p = 0.003). The factors associated with impaired quality of life were anxiety and alexithymia. Conclusion: Alexithymia was present in half of patients with IBS and its was associated with impaired quality of life.

A survey to explore the psychological and professional impact of change imposed by COVID-19.

Aim: Staff of a department underwent a change following the COVID-19 pandemic. The objective of this study was to assess the psychological and professional impact of this change. Materials & methods: This is cross-sectional study, including all department staff conducted from 15 July 2021 to 15 August 2021. Results: All the staff concerned (n = 36) participated. Only 9.37% declared that they understood the change. The main problem encountered by participants was poor communication (86.2%). More than 75% among participants had a demotivation and 54.5% had resisted. The main cause of resistance was quality of organization (42.4%). Conclusion: Our study illustrates the difficulties encountered by actors involved in organizational change and the high risk of their resistance.

Clinical and therapeutic features of Plummer-Vinson syndrome in a Tunisian population: a case series.

Plummer Vinson syndrome (PVS) is a rare entity and most publications are case or series of cases. Thus, we report a series from southern Tunisia. Our aim was to analyse the epidemiological and clinical characteristics, the therapeutic modalities as well as the evolution of this pathology. Thus we carried out a retrospective study from 2009 until 2019. For each patient with PVS, we collected the epidemiological, clinical, paraclinical data and therapeutic modalities. A total of 23 patients were enrolled with a median age of 49.52 years [18-82 years] and a clear female predominance (M/F=2/21). The median duration of dysphagia was 42 months [4-92 months]. Moderate microcytic hypochromic anemia was noted in 16 patients. The anemia was without obvious cause in 60.8% (n=14) of cases. The main endoscopic finding was a diaphragm in the cervical area. Treatment was based on iron supplementation followed by endoscopic dilatation with Savary dilators in 90.9% (n=20) and balloons for 9.1% of patients (n=2). Dysphagia recurred in 5 patients after a median of 26.6 months [2-60 months]. Three cases of PVS were complicated by esophageal squamous cell carcinoma. In conclusion, our series confirms that PVS affects mostly women. Anemia is frequently noted in these patients. Treatment is based on endoscopic dilatation which is often an easy and risk-free procedure and iron supplementation.

Biclonal Gammopathies in South Tunisia: Clinical and Biological Characteristics.

OBJECTIVE: Biclonal gammopathies (BGs) are rare situations characterized by the production of 2 monoclonal proteins. There are no available data on BGs in North Africa. We aimed to estimate the prevalence of BGs in our population and describe their clinical and laboratory features. METHODS: We conducted a 31-year retrospective study including patients with persistent double monoclonal bands based on the results of immunofixation/immunoelectrophoresis. RESULTS: A total of 35 patients with available clinical data (sex ratio, M/F = 1.53; mean age, 70 ±â€…10.87 years [range, 45-90 years]) were included. The main associated conditions were multiple myeloma (MM) (40%), BG of undetermined significance (BGUS) (34%), and lymphoproliferative diseases (23%). Only one-third of the patients had 2 monoclonal spikes on serum protein electrophoresis. The most common paraprotein combinations were immunoglobulin (Ig)G-IgG (25%) and IgG-IgA (23%) with different light chains in one-half of the cases. The mean follow-up was 25.6 months (median, 12 months). No BGUS evolved into a malignant disease. CONCLUSION: BGs are rare in clinical laboratory routine but must be accurately identified by the pathologist. Our cohort is characterized by a high prevalence of BGUS compared with MM.

Dorfman-Chanarin Syndrome with Renal Involvement: A Rare Case Report and Literature Review.

Dorfman-Chanarin syndrome (DCS) is a rare autosomal recessive disease. It is a multisystemic disease in which renal involvement is uncommon. We report the case of a woman with nephrotic syndrome associated with DCS. A 36-year-old woman was referred to the nephrology department for edema with known history for DCS. On physical examination, she had ichthyosiform erythroderma with generalized scaly skinand ascites. The ophthalmologic examination revealed a cataract in the right eye. Abdominal ultrasound examination showed hepatomegaly and splenomegaly. Laboratory tests showed normal renal and liver function. The blood cell count showed pancytopenia. Immunologic exams showed the presence of anti-mitochondrial antibodies. Kidney biopsy showed mesangial proliferative glomerulonephritis with extensive lipid vacuoles in the tubular epithelial cells. Immunofluorescence study showed mesangial deposits of IgG, C3, kappa, and lambda. To the best of our knowledge, this is the first case of DCS with renal involvement reported in an adult.

Anti-mitochondrial antibodies detection assays for diagnosis of primary biliary cholangitis in southern Tunisia population / Techniques de détection des anticorps anti-mitochondries pour le diagnostic de cholangite biliaire primitive : étude dans une population sud-tunisienne

Anti-mitochondrial antibodies (AMA) represent serological markers of primary biliary cholangitis (PBC). Investigation of these autoantibodies can be performed by indirect immunofluorescence (IIF) on tissue sections or immunodot using M2 and M2-3E antigens. We aimed to evaluate the concordance of these immunological tests and their performance in PBC diagnosis. We reviewed sera which were tested for autoimmune liver disease anti-bodies by IIF (EUROIMMUN®) and immunodot (EUROIMMUN®). Results of IIF (AMA) and immunodot (anti-M2 and anti-M2-3E) were analyzed. A focus was given on positive results for AMA and/or anti-M2 and/or anti-M2-3E. According to available clinical data, patients were divided into two groups "PBC" and "Non PBC". Three-hundred-nineteen sera were tested by both techniques. Results of AMA, anti-M2 and anti-M2-3E were concordant in 296 cases (92.8%). Indeed, the three biomarkers were negative in 237 cases (74.3%) and positive in 59 cases (18.5%). Eighty-two sera were tested positive for AMA and/or anti-M2 and/or anti-M2-3E. Clinical data were available for 30 patients. In "PBC" group (n = 15), AMA, anti-M2 and anti-M2-3E antibodies were positive in 14/15 cases. PBC diagnosis was made in 12/15 patients without requiring liver biopsy. In "non PBC" group (n = 15), AMA, anti-M2 and antiM2-3E antibodies were positive in 9/15 cases. However, PBC diagnosis was not reached in the absence of other diagnostic criteria. IIF represents a first-line technique for AMA detection while immunodot is useful to confirm antigenic specificity in IIF-AMA positive cases. Anti-M2 and/or anti-M2-3E can be detected in some IIF-AMA negative cases. Interpretation of these tests'results relays mainly on clinical context.

Les anticorps anti-mitochondries (AAM) peuvent être recherchés par immunofluorescence indirecte (IFI) ou immunodot en utilisant les Ag M2 et M2-3E. Afin d'évaluer la concordance de ces tests et leur intérêt dans le diagnostic de cholangite biliaire primitive (CBP), nous avons comparé les résultats de recherche des AAM (IFI), anti-M2 et anti-M2-3E (immunodot) de 319 sérums. Selon les données cliniques disponibles, les patients avec au moins un marqueur positif ont été classés en deux groupes « CBP ¼ et « non CBP ¼. Les résultats des trois marqueurs étaient concordants dans 296 cas (92,8 %). Au moins un marqueur était positif dans 82 cas. Dans le groupe « CBP ¼ (n = 15), les trois marqueurs étaient positifs dans 14 cas. Dans 12 cas, le diagnostic était retenu sans recours à la biopsie hépatique. Dans le groupe « non CBP ¼ (n = 15), les trois marqueurs étaient positifs dans neuf cas, mais les autres critères de CBP n'étaient pas remplis. L'IFI demeure la technique de première intention pour la recherche des AAM ; l'immunodot permet de confirmer la spécificité antigénique. L'interprétation, notamment des cas discordants, repose surtout sur le contexte clinique.

Prevalence of Helicobacter pylori resistance to clarithromycin in Tunisia.

Background. Helicobacter pylori (H. pylori) resistance to clarithromycin is increasing worldwide. Data on the prevalence of H. pylori resistance are limited in Tunisia.Gap statement. Given that H. pylori resistance to clarithromycin has not been studied in Tunisia since 2010, there was a need to determinate its prevalence and the principal mutations implicated in this resistance.Aim. The aims were to define the prevalence of H. pylori infection among symptomatic patients and to determinate the level of clarithromycin resistance among these patients and the main mutations conferring this resistance.Methods. We conducted a cross-sectional study from March 2017 to February 2020 in the Hepato-Gastroenterology Department of Hedi Chaker University Hospital in Sfax that included 124 Tunisian patients who underwent gastroduodenal endoscopy with biopsies. Mutations conferring resistance to clarithromycin were detected using the Allplex H. pylori and ClariR PCR Assay.Results. Out of 124 biopsies, 101 (81.5 2 %) were PCR-positive for H. pylori. Mutations conferring resistance to clarithromycin were detected in 30/95 (31.6 %) of patients. The rate of primary resistance was 25.3 % and of secondary resistance 62.5 %. The most frequently detected mutation was A2143G (86, 90%) followed by A2142G (11, 36%). Seven patients had a double mutation A2143G-A2142G. The factors independently associated with resistance to clarithromycin were diabetes, high blood pressure, the presence of a bulbar ulcer on endoscopy and the presence of gastric atrophy on histology.Conclusion. Detection of more than 25 % of strains with clarithromycin resistance mutations makes the H. pylori first-line treatment with clarithromycin questionable in our setting, and a review of empirical treatment of H. pylori is urgently needed.

EncephalApp Stroop Test for covert hepatic encephalopathy screening in Tunisian cirrhotic patients.

Background: Covert hepatic encephalopathy (CHE) is underdiagnosed and is difficult to detect. The EncephalApp Stroop test is validated for its screening. The aim of the study was to define Tunisian norms for the test based on healthy controls norms and to estimate the prevalence of CHE in cirrhotic Tunisian patients. Methods: A prospective, multicenter, cross-sectional study was conducted. Ambulatory or hospitalized cirrhotic patients aged 40 years and over were recruited at 11 centers. Healthy subjects aged 40 years and over were recruited at 8 centers. We used a translated Arabic version of the streamlined EncephalApp Stroop test. The task has two components: "Off" and "On" state depending on the discordance or concordance of the stimuli. Results: 142 patients were included. The mean age was 57.26 years [40-86]. 40 (28.17%) of cirrhotic patients who were included were diagnosed as having a minimal hepatic encephalopathy or CHE. Among the ineligible patients, 22 had overt hepatic encephalopathy. If we consider these patients, the overall prevalence rate of CHE was around 24.39% in cirrhotic patients. It was more frequent in women (34.21% vs 25.96%), and in patients whose level of school education is between 6 and 13 years. Its prevalence does not appear to be affected by gender, MELD score, etiology of cirrhosis and age group of patients, as these variables were independent with respective p according to the chi-square test 0.413; 0.736; 0.663 and 0.1. The stroop times (On / Off and On + Off) correlated significantly with each other, are associated significantly and positively with age (respective Pearson coefficients: 0.578; 0.567 and 0.6). The more the age increases, the more the stroop response times increases (p > 10 -3). Conclusions: EncephalApp Stroop test was an efficient screening tool for CHE in Tunisian cirrhotic patients.

Treatment of chronic hepatitis C with sofosbuvir in a hemodialysis patient: a case report.

The treatment of chronic hepatitis C virus (HCV) infection in chronic hemodialysis patients remains an issue of great concern for nephrologists. In 2008 the kidney disease improving global outcomes working group suggested the use of pegylated interferon in end stage kidney disease patients treated by dialysis. Since then, series and some clinical trials on different direct-acting antiviral agents have shown better efficacy and tolerance than interferon-based regimens. Data on the efficacy, tolerance and the right dose of sofosbuvir in this population are still unclear. We report a case of chronic HCV genotype 1b infection in a 47-year-old patient on maintenance hemodialysis successfully treated by a combination of sofosbuvir and ledipasvir for 12 weeks. Evolution was marked by the complete regression of the hepatic cytolysis, a complete and sustained virologic response with HCV viral load undetectable for a 24 months follow-up period. No adverse reaction was found. The treatment of HCV genotype 1 or 4 infection in patients on maintenance hemodialysis is possible with sofosbuvir based regimens with a good efficacy/safety ratio in the absence of current recommended drugs for patients with eGFR<30ml/min/1.73m2. The prescription of sofosbuvir should be encouraged amongst this population in this setting.

Role of splenic and hepatic stiffness in predicting esophageal varices.

INTRODUCTION: Non-invasive assessment of portal hypertension in chronic liver disease is a topical subject. AIM: Evaluate accuracy of splenic (SS) and liver (LS) stiffness in predicting the presence of esophageal varices (OV) in chronic hepatitis B patients and determine a non-invasive composite score. METHODS: This was a monocentric cross-sectional study, including carriers of chronic hepatitis B. All patients benefited of SS and LS measurement by impulse elastography (FibroScan Echosens), FIB-4 score calculation and oeso-gastro-duodenal endoscopy. RESULTS: We included 84 patients. The average age was 49.04 ± 12.8 years. The mean value of SS and LS was significantly higher in presence of OV; p=0.000. At respective threshold values of 33.1 KPa and 43KPa, SS was able to predict the presence of OV and large OV with AUROC of 0.795 and 0.906. At respective threshold values of 7.75 KPa and 13.55 KPa, LS was able to predict the presence of OV and large OV with AUROC of 0.836 and 0.894. Arithmetic sum of SS, LS and FIB-4 values was able to predict the presence of OV and large OV with AUROC of 0.918 and 0.942. CONCLUSION: SS and LS are simple and reliable non-invasive tools for predicting OV and large OV. Their association with FIB-4 score improves their diagnostic accuracy.

Short-term maximal performance, alertness, dietary intake, sleep pattern and mood states of physically active young men before, during and after Ramadan observance.

PURPOSE: To assess changes in short-term maximal performance, alertness, dietary intake, sleep pattern and mood states of physically active young men before (BR), during and after Ramadan observance. METHODS: Twelve physically-active men (age: 21.9±2.4yrs, height:1.77±0.09m, body-mass: 72.6±7.8kg, exercising: ≥3h/week) performed the 5-jump and the digit-cancellation (alertness) tests 15-days BR, on the first (FR) and last 10-days of Ramadan (ER) and 10-days (AR10) and 20-days (AR20) after Ramadan. During each period, sleep pattern (Pittsburgh-Sleep-Quality-Index (PSQI)), mood states (Profile-of-Mood-States (POMS)) and dietary intake were recorded. RESULTS: No significant changes in the 5-jump, digit-cancellation test and POMS parameters appeared during and after Ramadan relative to BR. However, the PSQI total score was lower during FR compared to AR10 (p<0.001). Specifically, the subjective sleep quality was lower (i) at BR compared to FR (p<0.05), AR10 (p<0.01) and AR20 (p<0.01) and (ii) at ER and AR20 compared to FR (p<0.05). The sleep duration (i) increased at FR (p<0.05) and (ii) decreased at AR10 (p<0.01) and AR20 (p<0.05) compared to BR. Sleep disturbances were significantly greater (i) at BR compared to FR (p<0.01), ER (p<0.01), AR10 (p<0.05) and AR20 (p<0.05) and (ii) at AR10 and AR20 compared to FR and ER (p<0.05). In terms of diet, the fractional contribution of carbohydrate (%) was lower and the dietary fat content (g) was higher during ER than AR10 and AR20 (p<0.05). Further, the dietary protein (in %) was significantly lower during FR compared to BR (p<0.01), ER (p<0.05), AR10 (p<0.05) and AR20 (p<0.05). CONCLUSION: Ramadan had no-adverse effects on the 5-jump performance, alertness, or mood states in physically active young men. However, the sleep duration was shorter and the sleep quality was improved following compared to during Ramadan. The fractional intake of fat also increased at the expense of carbohydrate during Ramadan, and the protein intake was lower at the beginning of Ramadan than before, at the end of and after Ramadan.

Effect of Ramadan fasting on feelings, dietary intake, rating of perceived exertion and repeated high intensity short-term maximal performance.

The present study was designed to investigate the effect of Ramadan fasting on feelings, dietary intake, rating of perceived exertion (RPE) and repeated high-intensity short-term maximal performance. Thirteen physically active men (age: 21.2 ± 2.9 years, height: 175.6 ± 5.6 cm, body-mass: 72.4 ± 8.6 kg) performed a 5-m shuttle run test (6 × 30-s + 35-s of recovery in-between) during five experimental periods: fifteen days before Ramadan (BR), the first ten days of Ramadan (FR), the last ten days of Ramadan (ER), ten days after Ramadan (AR10) and 20 days after Ramadan (AR20). The study was carried out in Tunisia during the 2016 Ramadan month. During the 5-m shuttle run test, higher distance (HD), total distance (TD) and fatigue index (FI) were recorded. RPE was determined after a 5-min warm-up and after each repetition of the 5-m shuttle run test (the mean RPE score during the test was calculated). Moreover, a feelings scale (FS) was used after the warm-up and after the end of the 5-m shuttle run test. During the five experimental periods, dietary intake was assessed. The results showed that HD, TD and FI during the 5-m shuttle run test were not affected by Ramadan observance (p > 0.05). Likewise, FS scores recorded after the warm-up and the 5-m shuttle run test were not affected by Ramadan fasting (p > 0.05). However, mean RPE scores during the 5-m shuttle run test were significantly lower at ER (4.06 UA), AR10 (3.86 UA) and AR20 (3.71 UA) in comparison to BR (4.51 UA) (p < 0.05). The results showed also that Ramadan fasting has no adverse effect on energy intake, protein (g and %), fat (g and %) and carbohydrate (g). However, the fractional contribution of carbohydrate was significantly higher AR10 than FR (53.1% vs. 45.8%) and ER (53.1% vs. 46.5%) and AR20 than FR (5.92% vs. 45.8%) (p < 0.05). In conclusion, Ramadan fasting has no adverse effect on feelings, dietary intake, and short-term maximal performance. However, the RPE during repeated high intensity short-term maximal exercise was reduced AR20 in comparison to ER. Abbreviations: AR: After Ramadan; AR10: Ten days after Ramadan; AR20: Twenty days after Ramadan; BR: Fifteen days before Ramadan; ER: Last ten days of Ramadan; FI: Fatigue index; FR: First ten days of Ramadan; FS: Feelings scale; HD: Higher distance; PSQI: The Pittsburgh Sleep Quality Index; RPE: Rating of Perceived Exertion Scale; TD: Total distance.

Histopathological findings in cholecystectomies specimens: A single institution study of 20 584 cases.

BACKGROUND: The histopathological examination of cholecystectomy specimens has not been standardized with a debate concerning the routine and the selective approach. The aim of this study was to assess the information obtained from routine histopathological examination of cholecystectomy specimens. METHODS: All histopathological reports of cholecystectomy specimens between January 2003 and December 2016 were analyzed, including a clinical diagnosis of benign gallstone disease or cholecystitis. RESULTS: A total of 20,584 reports were examined. The mean age of patients was 54.2 years. Patients aged more than 60 years represent 37.6% of the study population. Of all patients, 15,973 (77.6%) were females. Incidental gallbladder cancers (GBC) were present in 155 cholecystectomies specimens (0.8%). 67.1% of GBC are at T2 and T3 stage. Granulomatous cholecystitis was diagnosed in only 19 cases (0.1%). GBC were more prevalent in older patients (P < 10-6) and cholesterolosis was more prevalent in young patients (P < 10-6). There was no gender predilection for GBC (P = 0.739). CONCLUSIONS: The rate of incidental gallbladder carcinoma in our study is low, yet, we found a higher proportion of T2 and T3 carcinomas stage. Granulomatous cholecystitis may need further investigations and treatments. When a selective approch of histopathological examination of cholecystectomy specimens is used, it is important to take into account that clinical parameters are significantly associated with gallbladder cancer.

HLA-A*31:01 and carbamazepine-induced DRESS syndrom in a sample of North African population.

PURPOSE: Drug rash with eosinophilia and systemic symptoms (DRESS) is a serious adverse drug reaction. Carbamazepine is the most common causes of this syndrome. The HLA-A*31:01 allele has been shown to be strongly correlated with carbamazepine-induced DRESS syndrome in European, Japanese, Han Chinese and other asian population but not in African populations. So, our purpose is to study there is a correlation between HLA-A*31:01 and carbamazepine-induced DRESS syndrome in africain population? METHODS: HLA class I (A and B) typing was performed on 7 subjects with carbamazepine-DRESS syndrome and 25 tolerants controls subjects. DNA typing HLA class I (A) alleles was checked by the polymerase chain reaction amplification Sequence Specific Oligonucleotide Probes (SSO) (reverse-SSO assay). High resolution HLA DNA Kit based on the Luminex technology (One Lambda®) was used according to the manufacturer's protocol. RESULTS: The HLA-A*31:01 allele, which has a prevalence of 1% in Tunisian population, was significantly associated with DRESS syndrome. It was detected in 57.14% of cases (4/7) and only 4% of controls subjects (1/25). Thus, the carrier frequency of HLA-A*31:01 allele in the cases group was also significantly higher than in the controls group (57, 14% vs 4% P = 0,004). Odds ratio is estimated 32 (OR = 32 [2.6; 389.2]) CONCLUSION: Similarly to other ethnicities, the presence of the HLA-A*31:01 allele was associated with carbamazepine-DRESS syndrome in a sample of North African population. Future study must be conducted on a larger sample in order to confirm these results.

Genetic association and phenotypic correlation of TLR4 but not NOD2 variants with Tunisian inflammatory bowel disease.

OBJECTIVE: The common association between NOD2/CARD15 and TLR4 gene variants with inflammatory bowel disease (IBD) has not been replicated in all studies. We studied the polymorphism of these two genes in Tunisian patients with IBD. METHODS: Polymorphisms of NOD2 (R702W, G908R and L1007fs) and TLR4 (Asp299Gly and Thr399Ile) genes were analyzed in 106 patients with IBD (68 with ulcerative colitis [UC], 38 with Crohn's disease [CD]) and 160 healthy controls using polymerase chain reaction-restriction fragment length polymorphism. Genotypes and phenotypes were correlated. RESULTS: The mutated allele of TLR4-Thr399Ile was strongly associated with IBD (9.4% in IBD, 7.4% in UC and 13.2% in CD vs 2.5% in controls; P = 0.0004, 0.014 and 0.00006, respectively). Heterozygous genotypes were significantly more frequent in patients with IBD (17.0%), UC (14.7%) and CD (21.1%) than in controls (5.0%) (P = 0.0012, 0.012 and 0.001, respectively). Interestingly, the wild genotype was found to be protective (odds ratio 0.24). The mutated allele of TLR4-Asp299Gly was more frequent in controls (6.8%) than in patients with IBD (2.9%). A phenotypic correlation of Asp299Gly-AG genotype with arthritis in UC patients was detected (P = 0.003). Regarding the NOD2 gene, the common variations studied were not polymorphic and there was no genetic association with IBD. CONCLUSION: The TLR4-Thr399Ile variant was strongly associated with susceptibility to IBD, whereas TLR4-Asp299Gly seems to play a role in the clinical expression of UC. The rarity and non-association of NOD2 mutations with IBD may reveal a genetic characteristic of the population in our region.

Cirrhotic cardiomyopathy: is there any correlation between the stage of cardiac impairment and the severity of liver disease?

Cirrhotic cardiomyopathy is associated with poor prognosis and risk of acute heart failure after liver transplantation or interventional procedures. We aimed to assess the relationship between the severity of cardiac impairment and hepatic disease. Eighty patients and eighty controls underwent echocardiography, tissue Doppler imaging and speckle tracking measures. We assess the correlation between echocardiographic parameters and Child and MELD scores. Systolic parameters function (s wave, p < 0.001) and global longitudinal strain (p < 0.001) as well as diastolic parameters were significantly more impaired in cirrhotic patients compared to controls. There were no differences among the different groups in 'Child score' regarding systolic function as well as diastolic function. Paradoxically, the left atrium size correlated positively to both Child (p = 0.01, r = 0.26) and MELD scores (p = 0.02, r = 0.24). Left ventricular ejection fraction was significantly lower in decompensated patients as compared to compensated patients(p = 0.02).. We did not identify any association between severity of liver disease and cardiac dysfunction. Therefore, a transthoracic echocardiography should be performed in all cirrhotic patients before interventional and surgical procedures regardless of the severity of liver disease.

Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population.

Autoimmune diseases (ADs) share several genetic factors resulting in similarity of disease mechanisms. For instance polymorphisms from the KIAA1109-interleukin 2 (IL2)-IL21 block in the 4q27 chromosome, has been associated with a number of autoimmune phenotypes. Here we performed a haplotype-based analysis of this AD related region in Tunisian patients. Ten single nucleotide polymorphisms (rs6534347, rs11575812, rs2069778, rs2069763, rs2069762, rs6852535, rs12642902, rs6822844, rs2221903, rs17005931) of the block were investigated in a cohort of 93 systemic lupus erythematosus (SLE), 68 ulcerative colitis (UC), 39 Crohn's disease (CD) patients and 162 healthy control subjects of Tunisian origin. In SLE population, haplotypes AGCAGGGTC, AGAAGAGTC, AGAAGGGTC and AGCCGAGTC provided significant evidence of association with SLE risk (p = 0.013, 0.028, 0.018 and 0.048, respectively). In the UC population, haplotype AGCCGGGTC provided a susceptibility effect for UC (p = 0.025). In the CD population, haplotype CAGGCC showed a protective effect against the development of CD (p = 0.038). Haplotype AAGGTT provided significant evidence to be associated with CD risk (p = 0.007). Our results support the existence of the associations found in the KIAA1109/IL2/IL21 gene region with ADs, thus confirms that the 4q27 locus may contribute to the genetic susceptibility of ADs in the Tunisian population.

[Adverse effects of sulfasalazine: discussion of mechanism and role of sulfonamide structure]. / Effets indésirables de la sulfasalazine : discussion de leur mécanisme et du rôle de la composante sulfamidée.

Sulfasalazine is widely used in the treatment of chronic inflammatory bowel disease (IBD) and certain rheumatic diseases. However, its use is associated with a high rate of adverse effects (AEs) which can be cutaneous, hematological, renal, hepatic, gastrointestinal or neurological. The aim of our study was to collect all cases of AEs suspected to be associated with the use of sulfasalazine in patients hospitalized in the department of Gastroenterology from the Hospital Hedi Chaker of Sfax (Tunisia) for a period of 5 years and to search the incriminated fraction (sulfonamide or salicylate). Our study population included 69 patients who received sulfasalazine for the treatment of IBD. We collected, in 23 patients (33%), 25 AEs suspected to be related to sulfasalazine. Cutaneous and hematological reactions are the most common. The subsequent administration of mesalazine was performed in 15 patients. It was well tolerated in 14 patients. So we were suspecting probably the responsibility of sulfonamide fraction in these cases. The mechanism of sulfasalazine induced AEs may be toxic or immunoallergic with the possibility of a cross-reaction with the other antimicroacterial sulfonamides.

Polymorphisms in the IL2RA and IL2RB genes in inflammatory bowel disease risk.

Associations with different autoimmune diseases of polymorphisms in genes encoding the IL2RA and IL2RB subunits (located in 10p15 and 22q13, respectively), were identified through genome-wide studies. Polymorphisms in these two genes were studied in 107 inflammatory bowel disease (IBD) patients (39 Crohn's disease [CD] and 68 ulcerative colitis [UC]) and in 162 ethnically healthy controls from Tunisia (Sfax). Two of the 15 IL2RA single-nucleotide polymorphisms (SNPs) genotyped (rs4749924 and rs706778) were significantly associated with UC (pcorr=0.018 and 0.048, respectively), but no evidence of association with CD was observed. The IL2RA GTCT haplotype was also more frequent in UC patients compared to controls (2.6% vs. 0%; p=0.002). One of the 6 IL2RB SNPs genotyped (rs743776) was significantly associated with CD (pcorr= 0.039), but no evidence of association with UC was observed. No significant association between IL2RB haplotypes was observed among investigated groups. Our study identified markers in the IL2RA and IL2RB genes that are significantly associated with UC and CD, respectively. Our results supporting IL2RA and IL2RB as promising candidate genes for IBD and suggesting a potential role of IL2R in the pathogenesis of IBD, likely involves regulatory T cells.