ABSTRACT
Bezoars constitute a compacted collection of undigested or partially digested material, potentially leading to intestinal obstruction. They most frequently occur in the stomach, with classification based on their composition. Many gastric bezoars are asymptomatic and frequently manifest in patients with gastrointestinal disturbances or psychiatric issues. We present a rare case of a bezoar related to occupational exposure that illustrates the least-discussed health risks associated with certain jobs.
ABSTRACT
Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous group of diseases characterized by autosomal dominant monogenic non-ketogenic diabetes mellitus, usually with early-onset, with a prevalence of 1-5% of all diabetes cases. A 72-year-old female was admitted with intestinal occlusion, anorexia, vomiting, and weight loss for four months. Medical history of type 2 diabetes mellitus, chronic pancreatitis with abnormal pancreatic development, and acute obstructive jaundice due to a mass in the head of the pancreas with duodenum extension four months before. Assuming surgically unresectable pancreatic neoplasm, digestive bypass surgery was performed. The pathologic examination of surgical specimens was negative for neoplasm. Abdominal imaging showed the pancreatic mass, proximal bowel distension and ascites, which was negative for neoplastic cells. A percutaneous biopsy of the mass revealed adenocarcinoma. Palliative chemotherapy was started. Next-generation sequencing revealed the variant c.-8G>T in the 5' untranslated region (UTR) region of the adenosine triphosphate (ATP) binding cassette subfamily C member 8 (ABCC8) gene in heterozygosity, associated with the MODY 12 subtype. We report a possible case of MODY 12 diabetes with a phenotype not previously described: a non-neoplastic pancreatic mass that appears in a previously abnormally developed pancreas, with evolution to neoplasm along with the late development of diabetes mellitus. Although this ABCC8 gene mutation could be incidental, there could be a relationship between this mutation, pancreatic malformation, chronic pancreatitis and pancreatic neoplasm. Investigation of new phenotypes is critical, including the potential role of the ABCC8 gene in oncogenesis.
ABSTRACT
Congenital lobar emphysema (CLE) is a rare developmental abnormality of the lower respiratory tract. This disease is caused by cartilage or connective tissue defects, leading to overdistention of a pulmonary lobe. CLE is mainly diagnosed in early childhood, though it might be rarely found in young adults. Due to its rarity, it can be misdiagnosed with other conditions. Here we report a case of a previously healthy young female complaining of dyspnea and thoracic pain after a commercial flight. Physical and radiological examinations were consistent with the diagnosis of CLE.