Publications by authors named "Yuh-Tsyr Chou"
Article Synopsis
- Recent studies indicate that pituitary tumors (PITs) in patients with multiple endocrine neoplasia type 1 (MEN1) may not be as aggressive as earlier thought, possibly due to increased early detection through imaging screenings.
- A retrospective analysis of 42 MEN1 patients showed variations in clinical characteristics based on the presence of PITs and specific mutations, with mutation-positive patients having more associated tumors and earlier onset of MEN1.
- The findings suggest that patients without MEN1 mutations are less affected by the disease, which could justify a less intensive follow-up approach for them.
Hereditary optic neuropathy (HON) is a group of genetically heterogeneous diseases that cause optic nerve atrophy and lead to substantial visual impairment. HON may present with optic nerve atrophy only or in association with various systemic abnormalities. Although a genetic survey is indispensable for diagnosing HON, conventional sequencing techniques could render its diagnosis challenging.
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