An innovative approach for a rare disease
Sign Up to like & getrecommendations! Published in 2018 at "Science"
DOI: 10.1126/science.360.6386.280-e
Abstract: Drug Development Charcot-Marie-Tooth disease type 2A (CMT2A) is a rare, inherited neurodegenerative condition. Affected individuals develop severe progressive muscle weakness, motor deficits, and peripheral neuropathy. Although defects in the gene encoding mitofusin 2 (MFN2) are… read more here.
Keywords: science; rare disease; disease; approach rare ... See more keywords
Cervical carcinosarcoma: approach of a rare tumour in a rare location
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-249302
Abstract: Cervical carcinosarcoma is a very rare tumour, with less than 70 cases described in the literature. We report a case of a woman in her 60s, with an atypical presentation: a single episode of high… read more here.
Keywords: tumour rare; cervical carcinosarcoma; approach rare; rare tumour ... See more keywords
A Predictable Approach of a Rare and Frequently Misdiagnosed Entity: Laryngeal Nerve Schwannoma
Sign Up to like & getrecommendations! Published in 2021 at "Healthcare"
DOI: 10.3390/healthcare10010059
Abstract: (1) Background: Schwannoma, a mesenchymal neoplasm derived from Schwann cells that line peripheral nerve sheaths, has a challenging diagnosis, due to the non-specific medical history and clinical examination. Nowadays, virtual reality (VR) is increasingly more… read more here.
Keywords: laryngeal nerve; predictable approach; approach rare; diagnosis ... See more keywords