Results 41 to 50 of about 181,707 (268)
Scientific Reports, 2023 Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse population ...
Luis M. Echeverry-Quiceno +10 more
doaj +1 more source
HemaSphere, 2021 Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by bone marrow failure, congenital anomalies, high genetic heterogeneity, and predisposition to cancer.
Eva Gálvez +24 more
doaj +1 more source
Decisiones médicas en enfermedades raras: de su definición estadística a su comprensión social
Saúde e Sociedade, 2021 Resumen Este ensayo teórico pretende analizar las decisiones médicas en el caso de las enfermedades raras. Una decisión médica es un proceso que orienta la producción de un diagnóstico o un tratamiento de salud, utilizando la información y evidencia ...
Nicolás Schöngut-Grollmus +1 more
semanticscholar +1 more source
CD44 In Sarcomas: A Comprehensive Review and Future Perspectives
Frontiers in Oncology, 2022 It is widely accepted that the tumor microenvironment, particularly the extracellular matrix, plays an essential role in the development of tumors through the interaction with specific protein-membrane receptors. One of the most relevant proteins in this
Enrique Fernández-Tabanera +6 more
doaj +1 more source
Acciones e Investigaciones Sociales, 2021 La pandemia de la COVID-19 se ha convertido en una crisis sanitaria, con amplias repercusiones. Los servicios de atención a las enfermedades raras (ER) se han visto afectados por los cambios derivados de las medidas para su gestión.
J. M. Guerra +2 more
semanticscholar +1 more source
Las enfermedades raras en las patologías neurometabólicas
Arbor: Ciencia, Pensamiento y Cultura, 2018 Las miopatías metabólicas son un grupo de trastornos genéticos que disminuyen la capacidad del músculo esquelético para utilizar sustratos energéticos y sintetizar ATP.
Julio Montoya +3 more
doaj +1 more source
Las enfermedades raras en Portugal desde la perspectiva de medicina interna
Galicia Clínica, 2021 In Portugal, it is estimated that there are about six hundred to eight hundred thousand people with rare diseases. About 80% are of genetic origin. Usually chronic and debilitating, they have a strong family, social and health system impact.
Maria Teresa Cardoso
doaj +1 more source
Anestesia en enfermedades raras.
Revista Electrónica AnestesiaR, 2020 Se presenta información acerca de la web Orphananesthesia (www.orphananesthesia.eu), una base de datos del tratamiento anestésico de pacientes con enfermedades raras. Se hace énfasis en los aspectos que conlleva de seguridad para los pacientes y de información actualizada y compendiada, así como revisada por expertos, de fácil accesibilidad.
openaire +2 more sources
Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole
Frontiers in Neuroscience, 2014 Lafora disease is a rare form of inherited progressive myoclonus epilepsy caused by mutations in the EPM2A gene encoding laforin, or in the EPM2B gene, which encodes malin.
Ana M García-Cabrero +7 more
doaj +1 more source
Hydroxytyrosol targets extracellular matrix remodeling by endothelial cells and inhibits both ex vivo and in vivo angiogenesis [PDF]
, 2016 This is the preprint version of our manuscript, corresponding to the article that has been published in final form at FOOD CHEMISTRY with DOI: 10.1016/j.foodchem.2016.10.111The health benefits of olive oil are attributed to their bioactive compounds ...
García-Vilas, Javier A. +2 more
core +1 more source