Gardner syndrome in a Tunisian family: Identification of a rare APC mutation through targeted NGS.

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.

Effect of long-term proton pump inhibitors on phosphocalcium metabolism and bone mineral density.

Although Proton pump inhibitors (PPIs) are well-tolerated, their long-term use may be associated with decreased bone mass. This is a case-control study including patients treated with PPIs (>1 year) and control subjects who have not received PPIs treatment. A total of 90 patients and 90 matched controls were included.

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.