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Unmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia.

AACE Clin Case Rep

August 2024

Department of Endocrinology, Endocrine Associates of West Village, New York City, New York.

Background/objective: Genetic causes of hypertriglyceridemia like familial chylomicronemia syndrome can be overlooked in everyday practice. We report a patient with a rare genetic mutation, highlighting the importance of genetic testing for timely diagnosis and prevention of complications.

Case Report: A 45-year-old Hispanic female presented with serum triglyceride levels of 749 mg/dL, refractory to rosuvastatin 10 mg daily and omega-3 ethyl esters 2 g daily.

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This study aimed to apply finite element analysis (FEA) to simulate the oral environment of a patient with an implant-supported overdenture prosthesis. A 3D mandibular model was created for a 45-year-old female patient from CT images, with mucosal thickness measured at 3 mm on average using ultrasonography. The overdenture prosthesis was scanned with an intraoral scanner and placed onto the 3D mandibular model.

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Follicular lymphoma (FL) is a gradually progressing type of B-cell non-Hodgkin lymphoma (NHL), distinguished by its characteristic follicular pattern of growth and a typically indolent clinical course. It is identified by the abnormal growth of B-cells in the lymph nodes. We report a case of a 45-year-old female who came up with complaints of heavy menstrual bleeding and easy fatiguability.

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