6 documents found, page 1 of 1
Pathologic expansion in the C9orf72 gene is associated with accelerated decline...
Miltenberger-Miltenyi, Gabriel; Conceição, Vasco A.; Gromicho, Marta; Pronto-Laborinho, Ana Catarina; Pinto, Susana; Carvalho, Mamede de
Neuromodulation of lower limb motor pathways with trans-spinal direct current s...
Pereira, Mariana; Fernandes, Sofia Rita; Miranda, Pedro Cavaleiro; Carvalho, Mamede de
Molecular biomarkers associated with respiratory insufficiency in amyotrophic l...
Pronto-Laborinho, Ana Catarina; Lopes, Catarina S.; Santos, Nuno C.; Carvalho, Filomena A.; Carvalho, Mamede de
Health-related quality of life in hereditary transthyretin amyloidosis polyneur...
Inês, Mónica; Coelho, Teresa; Conceição, Isabel; Ferreira, Lara; Carvalho, Mamede de; Costa, JoãoBackground: Hereditary Transthyretin Amyloidosis Polyneuropathy is a rare life-threatening neurologic disease that imposes considerable mortality and it is associated with progressive related disabilities. In this study, we aimed to assess the effect of the disease across health-related quality of life dimensions, in both carriers of the mutation and patients, to compare health-related quality of life with gene...
A malnutrição associada à doença e as suas repercussões em Portugal
Marinho, Anibal; Lopes, Ana; Sousa, Gabriela; Antunes, Henedina; Fonseca, Jorge; Mendes, Lino; Carvalho, Mamede de; Veríssimo, Manuel TeixeiraA malnutrição associada à doença é frequente do ponto de vista clínico, apresentando elevada morbilidade, mortalidade e impacto na qualidade de vida, em especialidades como a medicina interna, a oncologia, a neurologia, a gastroenterologia e a pediatria, entre outras. Estudos realizados em Portugal estimam existirem cerca de 40% de doentes em risco nutricional à data da admissão hospitalar, dependendo do estadi...
Natural history and survival in stage 1 Val30Met transthyretin familial amyloid...
Coelho, Teresa; Inês, Mónica; Conceição, isabel; Soares, Marta; Carvalho, Mamede de; Costa, JoãoOBJECTIVE: To assess the natural history and treatment effect on survival among patients with transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) stage 1 Val30Met. METHODS: Multi-institutional, hospital-based study of patients with TTR-FAP Val30Met prospectively followed up until December 2016, grouped into untreated (n = 1,771), liver transplant (LTx)-treated (n = 957), or tafamidis-treated (n =...