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Comprehensive Management of Von Hippel-Lindau Disease: Genetic and Oncological Perspectives
STATEMENT OF NEED
Von Hippel-Lindau disease (VHL) is an autosomal dominant disease in which germline pathogenic variants in the VHL gene predispose individuals to specific types of benign tumors, malignant tumors, and cysts in multiple organs, including clear cell renal cell carcinoma (RCC), renal cysts, central nervous system hemangioblastomas, retinal hemangioblastomas, pancreatic tumors and cysts, endolymphatic sac tumors, and cystadenomas of the epididymis and broad ligament (NIH, 2024). ... |
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Thyroid Eye Disease Mastery: Multidisciplinary Approaches to Diagnosis and Treatment
Thyroid eye disease (TED) is a multifactorial autoimmune disease with widely varied signs and symptoms. It is believed to result from the stimulation of several receptors located in the orbital fibroblasts and is usually associated with hyperthyroidism. However, 5% of patients with TED have hypothyroidism, and 5% have no sign of thyroid disease; thus, it is frequently misdiagnosed. Misdiagnosis can place patients at risk for disfigurement and permanent vision loss, because treatment is most ef... |
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