Frequency of axial spondyloarthritis in Tunisian patients with inflammatory bowel diseases

Aim of the work: To determine the frequency, clinical and radiological features of axial spondyloarthritis in patients with inflammatory bowel diseases (IBD) and to characterize differences between patients with and without axial spondyloarthritis. Patients and Methods: Patients included in this cross-sectional study were recruited from the Gastroenterology Department, University of Tunisia over six months. Sixty-four patients with IBD were questioned and examined for axial spondyloarthritis symptoms. Standard pelvic X-rays were performed for all and CT scans and MRI were done for some patients. Results: There were 42 men (65.6%) and 22 women (34.4%) with a mean age of 47 ± 22 years. 32 patients (50%) had Crohn’s disease, 31 had ulcerative colitis and 1 patient has undifferentiated colitis. The disease was confined to the colon among a half of patients with ulcerative colitis. Regarding Crohn’s disease, all lesions were confined to the ileum and the colon. The mean IBD duration was 6.18±7.2 years. The occurrence of axial spondyloarthritis was 26.5% (17 patients who were symptomatic in 16 cases). The bowel disease preceded rheumatic manifestations in all cases. Nine patients (14.1%) had isolated sacroiliitis. The patients with and without axial spondyloarthritis had similar sociodemographic, anthropometric characteristics, comorbidities and bowel disease particularities except a higher percentage of corticosteroids use (p = .013). Conclusions: Due to the high frequency, an early diagnosis of spondyloarthritis in patients with inflammatory bowel disease by thorough clinical exam and standard pelvic X-rays should be recommended. Keywords: Axial spondyloarthritis, Inflammatory bowel disease, Sacroiliiti

A rare cause of spontaneous hemoperitoneum: intra-abdominal vein rupture

Aim: Ruptures of the intra-abdominal vein causing a spontaneous hemoperitoneum in cirrhotic patients is a rare condition. However, diagnosis must be considered early in cirrhotic patients with hematic ascites as a delayed diagnosis with hemodynamic instability is associated with a poor prognosis. Case report: We present the case of a 54-year-old cirrhotic patient who presented a spontaneous hemoperitoneum due to the rupture of the intra-abdominal vein that was diagnosed during exploratory laparoscopy. Conclusion: Early diagnosis and management of spontaneous hemoperitoneum due to the rupture of intra-abdominal vein helps improve its prognosis

Synchronous primary gastric and renal tumors: a case report

Synchronous multiple primary cancers of the stomach and kidney are very rare, only 45 cases of synchronous multiple primary cancers of the stomach and kidney had been reported in the literature up until 2020. Thus far, no particular risk factors have been identified. We present a case of synchronous multiple primary cancers of the stomach and kidney in a 67-year-old female presenting with a 3-month history of vomiting and abdominal pain. The diagnosis of gastric adenocarcinoma with signet ring cells was confirmed through upper endoscopy with biopsies, while CT-guided biopsies of the renal tumor confirmed the diagnosis of primary kidney neoplasm

Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins

International audienceBackground: Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome, characterized by autosomal dominant inheritance and germline mutations in DNA mismatch repair genes. Despite several genetic variations that have been identified in various populations, the penetrance is highly variable and the reasons for this have not been fully elucidated. This study investigates whether, besides pathogenic mutations, environment and low penetrance genetic risk factors may result in phenotype modification in a Tunisian LS family. Patients and methods: A Tunisian family with strong colorectal cancer (CRC) history that fulfill the Amsterdam I criteria for the diagnosis of Lynch syndrome was proposed for oncogenetic counseling. The index case was a man, diagnosed at the age of 33 years with CRC. He has a monozygotic twin diagnosed at the age of 35 years with crohn disease. Forty-seven years-old was the onset age of his paternal uncle withCRC. An immunohistochemical (IHC) labeling for the four proteins (MLH1, MSH2, MSH6 and PMS2) of the MisMatchRepair (MMR) system was performed for the index case. A targeted sequencing of MSH2, MLH1 and a panel of 85 DNA repair genes was performed for the index case and for his unaffected father. Results: The IHC results showed a loss of MSH2 but not MLH1, MSH6 and PMS2 proteins expression. Genomic DNA screening, by targeted DNA repair genes sequencing, revealed an MSH2 pathogenic mutation (c.1552C>T; p.Q518X), confirmed by Sanger sequencing. This mutation was suspected to be a causal mutation associated to the loss of MSH2 expression and it was found in first and second degree relatives. The index case has smoking and alcohol consumption habits. Moreover, he harbors extensive genetic variations in other DNA-repair genes not shared with his unaffected father. Conclusion: In our investigated Tunisian family, we confirmed the LS by IHC, molecular and in silico investigations. We identified a novel pathogenic mutation described for the first time in Tunisia. These results come enriching the previously reported pathogenic mutations in LS families. Our study brings new arguments to the interpretation of MMR expression pattern and highlights new risk modifiers genes eventually implicated in CRC. Twins discordance reported in this work underscore that disease penetrance could be influenced by both genetic background and environmental factors