Targeted next generation sequencing screening of Lynch syndrome in Tunisian population.

A high colorectal cancer (CRC) incidence is observed in Tunisia, with a relatively high proportion of patients developing CRC before the age of 40. While this suggests a genetic susceptibility, only a few Tunisian Lynch Syndrome families have been described. In this study we aimed to identify the underlying genetic cause in 32 patients with early onset CRC and/or a positive family history. Of twenty-four patients' tumor or biopsies could be analyzed with immunohistochemical staining to detect loss of expression of one of the MMR proteins. Ten tumors showed loss of expression, of which one tumor was from a patient where a germline pathogenic MSH2 variant was detected previously with Sanger sequencing. Next generation sequencing of the MMR, POLE and POLD1 genes was performed in leukocyte and tumor DNA of the remaining nine patients, as well as in two patients with MMR-proficient tumors, but with severe family history. In six of 11 patients a germline variant was detected in MLH1 (n = 5) or MSH2 (n = 1). Two of six patients were from the same family and both were found to carry a novel in-frame MLH1 deletion, predicted to affect MLH1 function. All MLH1 variant carriers had loss of heterozygosity with retention of the variant in the tumors, while a somatic pathogenic variant was detected in the patient with the germline MSH2 variant.

Observance of the practice of digital rectal examination. Survey of general practitioners in East-central Tunisia.

INTRODUCTION: Digital rectal examination (DRE) is a simple gesture, used for diagnosis of several diseases. However, some general practitioners (GPs) are practicing it less and less often. AIM: To estimate the rate of unrealized DRE and to analyze the factors preventing threir achievement. METHODS: This is a prospective observational study conducted among 105 GPs practicing in Sousse. We used a pre-established pre-tested and self-administered questionnaire. RESULTS: We identified 551 DRE that were indicated but unrealized. There was a significant influence between the non-realization of DRE on the one hand, and on the other hand: the lack of experience; the closeness of the specialist; the lack of training and the lack of conviction of the importance of this examination. Embarrassment during the realization of the DRE was felt in 69.3% of cases. Factors associated with this embarrassment were: female practitioner; the young age of the practitioner; the rural practice and the nature of internship placements. CONCLUSION: Although it is a simple and inexpensive gesture, the DRE remains neglected by many physicians. Several factors appear to influence the achievement of the DRE. Ongoing continuing medical education seems necessary, especially as we found a lack of belief in the importance of this examination.

Giant staghorn common bile duct calculus.

Background - Stones in common bile duct are defined as 'large' if they are more than 15 mm in size. There are very few reports which describe a giant stone measuring 5 cm or more and exceptionally a staghorn calculus in the common bile duct. Purpose - The purpose is to report a new rare case of giant staghorn gallstone and discuss the diagnostic approach and therapeutic possibilities. Case report - We report a case of a giant staghorn common bile duct calculus in a 65-year-old patient. Its removal required 2 operations and an endoscopic retrograde cholangiopancreatography with endoscopic sphincterotomy. Conclusion - Lithiasis of the common bile duct is considered to be a benign, but may sometimes be complicated and time-consuming. Staghorn calculi are very rare in the biliary tract. We found only two published reports of staghorn common bile duct calculi.

Early versus delayed laparoscopic cholecystectomy for lithiasic acute cholecystitis during emergency admissions. Results of a monocentric experience and review of the literature.

BACKGROUND: It is established that the standard treatment for lithiasic acute cholecystitis is the laparoscopic cholecystectomie. However, the question of the timing of cholecystectomy remains controversial. AIM: To compare early laparoscopic cholecystectomies (within 72 hours of symptom onset) and delayed laparoscopic cholecystectomies (beyond 72 hours) for lithiasic acute cholecystitis in terms of intra-operative difficulties and post-operative complications. METHODS: The patients operated on for acute cholecystitis, between January 2007 and December 2012, were included in a retrospective study. They were divided into two groups based on whether surgery was performed before (group A) or after (group B) 72 hours after the onset of symptoms. We conducted a comparison between the two groups. RESULTS: The two groups were comparable in terms of background, clinico-biological presentation, and radiological findings. The average time of surgery was 111.6 hours after symptom onset.  Duration of surgery was significantly longer for group B (97 minutes versus 82.17 minutes, p = 0.003). There was more conversion in group B than in group A, without significant difference (20% versus 11.6%, p = 0.14). There were no deaths in our series. Specific post-operative complications were comparable between the two groups (wound infection: 3 (B) versus 1 (A), biliary fistula: 8 (B) versus 0 (A), p = Non significant). The post-operative hospital stay was significantly longer in group B (3.34 days versus 1.84, p <10-3). CONCLUSION: In case of early laparoscopic cholecystectomy, the conversion rate and post-operative morbidity are comparable to the delayed treatment of acute cholecystitis. But the early surgery can reduce the cost of care, the duration of surgery and the hospital stay. Key-words : Lithiasic acute cholecystitis ; Laparoscopic cholecystectomy.