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Familial colorectal cancer type X: clinical, pathological and molecular charact...

Ferreira, Sara; Lage, Pedro; Sousa, Rita; Claro, Isabel; Francisco, Inês; Filipe, Bruno; Suspiro, Alexandra; Chaves, Paula; Rodrigues, Paula

Some families fulfilling the Amsterdam Criteria (AC) differ from the Lynch syndrome (LS) in that colorectal cancers (CRC) do not present microsatellite instability (MSI) and DNA mismatch repair gene mutations are not found. These families have been designated as Familial Colorectal Cancer type X (XS) and their genetic basis remains unknown.In families fulfilling AC for LS: 1) To perform MSI testing in CRC and t...

Date: 2009   |   Origin: Acta Médica Portuguesa

Dysphagia and dysarthria: unusual presentation of Myasthenia Gravis.

Ferreira, Sara; Lage, Pedro; Claro, Isabel; Alcântara, João; Nunes, João; Nobre Leitão, C

Myasthenia Gravis is an autoimmune disorder that generally presents with ocular symptoms, specially diplopia and ptosis. Dysphagia may be a manifestation of the generalised type of the disease, but rarely is its presenting feature. The authors describe a case of Myasthenia Gravis in an old patient complaining of dysphagia and dysarthria. Because Myasthenia Gravis is a potentially serious but treatable disease, ...

Date: 2008   |   Origin: Acta Médica Portuguesa

Disfagia e Disartria. Forma Invulgar de Apresentação da Miastenia Gravis

Ferreira, S; Lage, P; Claro, I; Alcântara, J; Nunes, J; Nobre Leitão, C

Myasthenia Gravis is an autoimmune disorder that generally presents with ocular symptoms, specially diplopia and ptosis. Dysphagia may be a manifestation of the generalised type of the disease, but rarely is its presenting feature. The authors describe a case of Myasthenia Gravis in an old patient complaining of dysphagia and dysarthria. Because Myasthenia Gravis is a potentially serious but treatable disease, ...


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