Screening for celiac disease, by endomysial antibodies, in patients with unexplained hypertransaminasaemia.

OBJECTIVE: To do a serological screening for celiac disease in patients with unexplained liver cytolysis. MATERIALS AND METHODS: Fifty-six patients with liver cytolysis without known aetiology were studied. Endomysial antibodies were determined by indirect immunofluorescence on human umbilical cord. Two thousand and five hundred blood donors served as control group. For statistical analysis, we used Chi-square or Fisher's exact test. RESULTS: The frequency of IgA endomysial antibodies in our patients was significantly higher than in the control group (8.92% vs. 0.28%, p < .001). In female, endomysial antibodies were significantly more frequent in patients than in healthy subjects (12.12% vs. 0.4%; p < .001). In male, endomysial antibodies were significantly more frequent in patients than in healthy subjects (4.34% vs. 0.22%; p = .006). The frequency of positive EMA in female patients was higher than in male, but the difference was not statistically significant (12.12% vs. 4.43%; p = .6). Two patients were non-compliant with the gluten-free diet. One patient was out of touch. For the two other patients, transaminase levels reverted to normal level within six months of strict gluten withdrawal. CONCLUSIONS: A screening for celiac disease should be included within the diagnosis protocol of liver cytolysis.

Analysis of thiopurine S-methyltransferase phenotype-genotype in a Tunisian population with Crohn's disease.

This study was conducted to investigate the thiopurine S-methyltransferase TPMT activity distribution and gene mutations in Tunisian population with positive diagnostic for Crohn's disease. TPMT activity was measured in Tunisian population (n = 88) by a high performance liquid chromatography assay. Polymerase chain reaction-based methods were used to determine the frequency of TPMT mutant alleles TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C. TPMT activity was normally distributed, ranging from 4.58 to 35.27 nmol/(h ml) RBC with a mean of 18.67 ± 7.10 nmol/(h ml) RBC. Seven TPMT*3A heterozygotes and one TPMT*3C homozygote were found in 88 patients, with allele frequencies of 0.039 and 1.13, respectively. TPMT*3A and the TPMT*3C, which cause the largest decrease in enzyme activity, were both variant alleles detected in the Tunisian population.

Development of a Web Application based on Machine Learning for screening esophageal varices in cirrhosis.

INTRODUCTION: Esophageal varices (EV) are a common manifestation of portal hypertension in cirrhotic patients. Upper gastrointestinal endoscopy (UGE) is the gold standard for diagnosing EV. However, it is an invasive examination with a relatively high cost. AIM: To develop a machine learning model for the prediction of EV in cirrhotic patients. METHODS: This is a cross-sectional observational study including all cirrhotic patients, for whom an UGE was performed, between January 2010 and December 2019. We adopted a structured methodical approach with reference to CRISP-DM (Cross-Industry Standard Process for Data Mining). The different steps carried out were: data collection and preparation, modelization, and deployment of the predictive models in a web application. RESULTS: We included 166 patients, 92 women (55.4%) and 74 men (44.6%). The mean age was 57.2 years. In UGE, 16 patients (9.6%) did not have EV. Other patients had EV grade 1 in 41 cases (24.7%), grade 2 in 81 cases (24.7%) and grade 3 in 28 cases (16.9%). After the selection phase, among the 36 initial variables, 19 were retained. Three machine learning models have been developed with a performance of 90%. CONCLUSIONS: We developed a machine learning model combining several clinical and para-clinical variables for the prediction of EV in cirrhotic patients.

Clinical, biological, radiological, and genetic study of LPAC syndrome in Tunisian patients.

BACKGROUND AND STUDY AIMS: Low phospholipid-associated cholelithiasis (LPAC) syndrome is a form of cholelithiasis associated with the ABCB4 gene mutation. The defects of the protein ABCB4 encoded by this gene promote the formation of biliary cholesterol microcalculations. ABCB4 screening is negative in a significant proportion of patients. PATIENTS AND METHODS: An analytical study of the epidemiological, clinical, biological, and radiological characteristics of 19 patients was conducted, followed by Sanger-type sequencing of the 27 exons encoding the ABCB4 gene. RESULTS: Our results showed a female predominance, symptomatic vesicular lithiasis predominance, and a high frequency of biliary complications in patients carrying an ABCB4 mutation. Normal ​​ liver enzyme values were found in 84.2% of the cases. Intrahepatic hyperechoic foci were present in 68.4%. Molecular analysis detected a pathogenic mutation of the ABCB4 gene in 31.57% of patients. The mutations found were a nonsense mutation and three missense mutations, including two new mutations. CONCLUSION: Our epidemiological, clinical, and genetic results concord with previous studies of LPAC syndrome. Two of the mutations we found have never been detected in patients with LPAC. The low percentage of ABCB4 gene mutations can be explained by the absence of studies of other genes involved in bile acid homeostasis besides the ABCB4 gene and by the inclusion criteria used in this study.

Primary Hepatic Lymphoma in a Patient with Chronic Hepatitis B.

Primary hepatic lymphoma is a rare disease, accounting for only 0.1% of malignant liver tumors. The subtype of diffuse large B-cell lymphoma (DLBCL) is more infrequent. In contrast to hepatitis C virus, the association between hepatitis B virus and lymphoma is less clear. Here, we report the case of a 52-year-old patient followed for chronic hepatitis B complicated by cirrhosis, associated with a primary hepatic DLBCL, with a good response to chemotherapy.

Gastrointestinal Biopsy in Henoch-Schönlein Purpura: A Great Diagnostic Contribution.

Henoch-Schönlein purpura is an IgA-mediated immune vasculitis which is characterized by purpuric lesions and osteoarticular, intestinal and sometimes renal manifestations. The histopathological substrate of this entity is leucocytoclastic vasculitis (LCV) with IgA deposits seen on immunohistochemistry. We here report the case of a 27-year-old woman with abdominal pain and cutaneous purpura. Upper and lower endoscopic exploration showed purpuric lesions in the rectum but not in the stomach. Skin biopsy revealed LCV. IgA deposits were seen only in gastric mucosa. The patient was treated with corticoids which led to improvement of both the cutaneous and digestive symptoms. This case suggests that gastrointestinal biopsies of both normal and abnormal mucosa should be taken in Henoch-Schönlein purpura, especially in patients with atypical forms. LEARNING POINTS: The diagnosis of Henoch-Schönlein purpura may be difficult, especially in patients with atypical forms.Identification of IgA deposits is important for the diagnosis; these deposits may be absent in skin biopsies but present in gastrointestinal mucosa despite the absence of lesions on endoscopy.Therefore, taking gastrointestinal biopsies of both involved and uninvolved mucosa is important.

Association of hepatitis C virus infection and diabetes in central Tunisia.

AIM: To investigate hepatitis C virus (HCV) seroprevalence in Tunisian patients with diabetes mellitus and in a control group. METHODS: A cross-sectional study was conducted to determine the HCV seroprevalence in 1269 patients with diabetes (452 male, 817 female) and 1315 non-diabetic patients, attending health centers in Sousse, Tunisia. HCV screening was performed in both groups using a fourth-generation enzyme immunoassay. RESULTS: In the diabetic group, 17 (1.3%) were found to be HCV-infected compared with eight (0.6%) in the control group, although the difference was not significant (P = 0.057). Quantitative PCR was performed in 20 patients. Eleven patients were positive and showed HCV genotype 1b in all cases. CONCLUSION: Frequency of HCV antibodies was low in patients with diabetes and in the control group in central Tunisia, with no significant difference between the groups.