Recurrent catamenial pneumothorax in an adolescent: A case report with review of diagnostic and therapeutic challenges.
Catamenial pneumothorax (CP) is a rare form of spontaneous pneumothorax associated with thoracic endometriosis and is exceptionally uncommon in adolescents. We report a 14-year-old girl with early menarche and heavy …
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with …
Whether endometriosis is a progressive disease remains debated. Central to this debate is understanding the natural history of endometriotic lesions, which are essentially wounds undergoing repeated tissue injury and repair. …