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Gardner syndrome (GS) is a subtype of familial adenomatous polyposis (FAP) characterized by colorectal polyps, multiple osteomas, soft tissue tumors, and specific oral manifestations, such as jaw osteomas. GS is caused by mutations in the APC gene, resulting in a nonfunctional protein. This study reports a comprehensive clinical evaluation and genetic analysis of a Tunisian family affected by GS. Targeted exome sequencing and Sanger sequencing techniques were employed to identify and validate mutations in the APC gene. Clinical observations of the patient revealed multiple sebaceous cysts, frontal and maxillary osteomas, and several gastrointestinal polyps. Genetic analysis revealed a pathogenic variant (c.4652-4655del) in the APC gene, leading to a truncated protein. Additionally, genetic testing of the patient's child indicated that the child does not carry the APC pathogenic variant. In conclusion, our study highlights the importance of genetic testing in raising awareness of GS among clinicians to ensure early diagnosis and effective management, thereby reducing the risk of development and progression of colorectal cancer., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier B.V.)

Cello-oligosaccharides (COS) become a new type of functional oligosaccharides. COS transglycosylation reactions were studied to enhance COS yield production. Seeking the ability of the free form of Fusarium solani β-glucosidase (FBgl1) to synthesize COS under low substrate concentrations, we found out that this biocatalyst initiates this reaction with only 1 g/L of cellobiose, giving rise to the formation of cellotriose. Cellotriose and cellopentaose were detected in biphasic conditions with an immobilized FBgl1 and when increased to 50 g/L of cellobiose as a starter concentration. After the biocatalyst recycling process, the trans-glycosylation yield of COS was maintained after 5 cycles, and the COS concentration was 6.70 ± 0.35 g/L. The crude COS contained 20.15 ± 0.25 g/L glucose, 23.15 ± 0.22 g/L non-reacting substrate cellobiose, 5.25 ± 0.53 g/L, cellotriose and 1.49 ± 0.32 g/L cellopentaose. A bioprocess was developed for cellotriose enrichment, using whole Bacillus velezensis cells as a microbial purification tool. This bacteria consumed glucose, unreacted cellobiose, and cellopentaose while preserving cellotriose in the fermented medium. This study provides an excellent enzyme candidate for industrial COS production and is also the first study on the single-step COS enrichment process., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Aim: Although Proton pump inhibitors (PPIs) are well-tolerated, their long-term use may be associated with decreased bone mass. Methods: This is a case-control study including patients treated with PPIs (>1 year) and control subjects who have not received PPIs treatment. Results: A total of 90 patients and 90 matched controls were included. PPIs use was associated with hypocalcemia and hypomagnesemia. Vitamin D3 deficiency and hyperparathyroidism were associated with PPIs use. Long-term PPIs use was significantly associated with decreased bone density. Risk factors of decreased bone mineral density (BMD) included age >50 years, menopause, lack of sun exposure, double PPIs dose, daily intake, post-meal intake and association with a mucoprotective agent. Conclusion: Our results highlight the risk of decreased BMD in patients on long-term PPIs treatment., Competing Interests: The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties., (© 2024 Hend Smaoui.)

Aim: Non-melanoma skin cancers are more common in people with inflammatory bowel disease. However, these tumors can rarely mimic a cutaneous manifestation of the disease, which delays diagnosis and clouds prognosis. Observation: A 35-year-old man with stenosing and fistulizing ileocolic Crohn's disease developed squamous cell carcinoma mimicking a groin fold abscess. After surgical drainage of the abscess, despite antibiotics and therapy combining azathioprine with infliximab, the abscess has recurred. Biopsies revealed a cutaneous squamous cell carcinoma. Palliative radiotherapy-chemotherapy was initiated, but the patient died after 3 months. Conclusion: This observation illustrates the increased risk of non-melanoma skin cancers in inflammatory bowel disease patients, particularly those exposed to thiopurines, and the value of diagnosing them at an early stage., Competing Interests: The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties., (© 2023 Mona Boudabbous.)

Cirrhosis is the final stage in the development of hepatic fibrosis in chronic liver disease. It is associated with major hemodynamic disturbances defining the hyperdynamic circulation and may be complicated by specific cardiac involvement or cirrhotic cardiomyopathy which is a silent clinical condition that typically remains asymptomatic until the late stages of liver disease. Recently, new criteria defining CC, based on modern concepts and knowledge of heart failure, have been proposed. Despite knowledge of the main mechanisms behind this entity, there is no specific treatment available for cirrhotic cardiomyopathy. The management approach for symptomatic cardiomyopathy in cirrhotic patients is similar to that for left ventricular failure in non-cirrhotic individuals., Competing Interests: The authors have no competing interests or relevant affiliations with any organization or entity with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties., (© 2024 Mona Boudabbous.)

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., Competing Interests: Competing interests: Alpha Sigma, (Copyright: © 2023 Hamzaoui L et al.)

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., Competing Interests: Competing interests disclosure The authors declare that there are no conflicts of interest present., (© 2023 BOUDABBOUS Mona.)

Aim: The aim of this study was to assess the value of routine screening for renal damage in cases of B viral infection, by looking for proteinuria and elevated creatinemia., Materials & Methods: We investigate the frequency and associated factors of renal impairment in patients with viral B hepatopathy., Results: Pathological albuminuria was confirmed in 44.73%. The chronic kidney disease with slightly decreased filtration rate was found in 21.05%. In multivariate analysis, only BMI was an independent factor for pathological albuminuria (p = 0.013) and only age was an independent predictor of chronic kidney disease (p = 0.056)., Conclusion: Urine dipstick and creatinemia are useful for routine screening in viral B hepatopathy especially in the elderly and overweight., Competing Interests: Competing interests disclosure The authors declare that there are no conflicts of interest present., (© 2023 Mona Boudabbous.)