Results 21 to 30 of about 6,197 (153)

Dados de utilização do medicamento Nusinersena para tratamento da Atrofia Muscular Espinhal tipo I no âmbito do SUS

Jornal de Assistência Farmacêutica e Farmacoeconomia, 2023
Introdução: Por meio da Sala Aberta de Situação de Inteligência em Saúde (SABEIS) é possível fazer o monitoramento da utilização de medicamentos do Componente Especializado da Assistência Farmacêutica e também caracterizar epidemiologicamente algumas ...
Amanda Oliveira Lyrio, Samara Helena de Carvalho, Ana Carolina de Freitas Lopes, Felipe Ferré, Antônio Marcos Santana Barreira, Tacila Pires Mega, Clementina Corah Lucas Prado, Vania Cristina Canuto Santos   +7 more
doaj   +1 more source

Doenças neuromusculares: rediscutindo o overtraining [PDF]

, 2014
Centro Universitário Augusto MottaUniversidade de São Paulo School of Medicine Department of Physical TherapyUniversidade Federal FluminenseUniversidade Federal de São Paulo (UNIFESP) Neurology DepartmentUNIFESP, Neurology ...
Hasue, Renata Hydee, Leite, Marco Antônio Araújo, Menezes, Sara Lúcia Silveira de, Oliveira, Acary Souza Bulle, Orsini, Marco, Silva, Júlio Guilherme   +5 more
core   +3 more sources

Atrofia muscular espinal y bulbar: enfermedad de Kennedy. Artículo de revisión

Ciencia Latina Revista Científica Multidisciplinar, 2022
Son un grupo heterogéneo de naturaleza esporádica o hereditaria, caracterizadas por la degeneración de la neurona motora localizada en la asta anterior de la médula o del bulbo, de la neurona motora piramidal la cual, se encuentra localizada en el córtex cerebral o de una combinación de ambas motoneuronas superior e inferior, en los resultados de ...
Nicolás Quilagüy Camelo, Ángel Fabián Leon Chávez, María Paula Berrío Julio, Eduard Orlando Vargas Plazas, Jairo Jesús Martínez Romero, Danni Raúl Monroy Sierra, Estefany Johana Quintero Rueda, J. García Rodríguez   +7 more
openaire   +2 more sources

Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers

Orphanet Journal of Rare Diseases
Background There is a need to expand the current scope of assessment tools usually applied to patients with Spinal Muscular Atrophy (SMA). This study aimed to assess the psychometric properties (reliability and discriminant validity) of a set of new ...
Maria Grazia Cattinari, Samuel Ignacio Pascual-Pascual, Mencía de Lemus, Julita Medina, María Dumont, Pablo Rebollo, Juan Francisco Vázquez-Costa   +6 more
doaj   +1 more source

Management of Community acquired pneumonia in the Emergency Room

Iberoamerican Journal of Medicine, 2019
The incidence of community-acquired pneumonia (CAP) ranges from 2-15 cases/1,000 inhabitants/year, being higher in those over 65 or in patients with comorbidities. In Emergency Room (ER) it represents up to 1.35% of the care.
Eduardo Esteban-Zubero, Cristina García-Muro, Moisés Alejandro Alatorre-Jiménez, Alejandro Marín-Medina, Carlos Arturo López-García, Ahmed Youssef, Rocío VilledaGonzález   +6 more
doaj   +1 more source

Atrofia muscular espinal: Caracterización clínica, electrofisiológica y molecular de 26 pacientes [PDF]

Revista médica de Chile, 2011
Background: Spinal Muscular Atrophy (SMA) is an autosomal recessive disorder affecting the anterior horn cells of the spinal cord resulting in muscle weakness and atrophy, linked to the homozygous disruption of the survival motor neuron 1 (SMN1) gene. It is the leading genetic cause of infant death.
CASTIGLIONI, CLAUDIA, LEVICÁN, JORGE, RODILLO, ELIANA, GARMENDIA, MARÍA ANGÉLICA, DÍAZ, ALEJANDRA, PIZARRO, LORENA, CONTRERAS, LUIS   +6 more
openaire   +2 more sources

Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study

Journal of Patient-Reported Outcomes
Background SMA is a hereditary neuromuscular disease that causes progressive muscle weakness and atrophy. Several studies have shown that the burden of SMA is very high at many levels.
Mencía de Lemus, Maria G. Cattinari, Samuel I. Pascual, Julita Medina, Mar García, Ana Magallón, María Dumont, Pablo Rebollo   +7 more
doaj   +1 more source

Estudio del metabolismo de la glucosa en pacientes con esclerosis lateral amiotrófica [PDF]

, 2018
[ES] La esclerosis lateral amiotrófica (ELA), es un trastorno neurodegenerativo que afecta a las motoneuronas a nivel cerebral, troncal y espinal, causando debilidad y atrofia muscular progresiva y finalmente, la muerte.
Etxabe Gurrutxaga, Josune
core  

RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy

Orphanet Journal of Rare Diseases
Background Spinal Muscular Atrophy (SMA) is a rare neuromuscular disorder characterized by progressive degeneration of motor neurons and muscle weakness resulting in premature death or severe motor disability.
Maria Grazia Cattinari, Mencía de Lemus, Eduardo Tizzano   +2 more
doaj   +1 more source

Reprogramación del splicing alternativo de genes asociados a cáncer de mama

Epistemus, 2021
El splicing alternativo es un proceso que modula la expresión génica y contribuye en la diversidad proteica. Sin embargo, se han observado que alteraciones en el splicing alternativo de algunos genes promueve el desarrollo de isoformas oncogénicas en ...
Kate Ariadna Rossano Gutiérrez, Nancy Martínez Montiel, Maricruz Anaya Ruiz, Mayra Patricia Gaspariano Cholula, Rebeca Débora Martínez Contreras   +4 more
doaj   +1 more source