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.

Dysfunction of the autonomic nervous system in gastro-esophageal reflux disease: Consequences for the cardiovascular system.

Objective: The pathophysiology of gastro esophageal reflux disease (GERD) implicates autonomic dysregulation of the lower esophageal sphincter tone. Our goal is to investigate whether this dysregulation of the autonomic nervous system (ANS) function observed in isolated GERD cases can affect other systems, such as cardiovascular regulation.

Methods: Twenty-five participants were included in the study, 11 patients with isolated GERD and 14 controls.

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.

Squamous cell carcinoma and Crohn's disease: a sometimes-challenging diagnosis.

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. A 35-year-old man with stenosing and fistulizing ileocolic Crohn's disease developed squamous cell carcinoma mimicking a groin fold abscess.

Assessment of histology's performance compared with PCR in the diagnosis of infection.

Histology is the most widely used test to detect . PCR is less used but allows the detection of both infection and antibiotics' resistance. We conducted a monocentric cross-sectional study, collecting 97 symptomatic patients to assess the diagnostic performance of histology in the detection of infection compared with PCR.