Results 21 to 30 of about 56,471 (208)

Talla baja y enfermedades raras [PDF]

Anales del Sistema Sanitario de Navarra, 2008
La baja talla constituye el primer motivo de consulta en endocrinología pediátrica. En un alto porcentaje su etiología es clara y obedece fundamentalmente a variantes de normalidad. Sin embargo, en aproximadamente un 20% esta baja talla es patológica y obliga a estudios exhaustivos.
Chueca, M.J., Berrade, S., Oyarzábal, M.   +2 more
openaire   +4 more sources

Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population

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, Estephania Candelo, Eidith Gómez, Paula Solís, Diana Ramírez, Diana Ortiz, Alejandro González, Xavier Sevillano, Juan Carlos Cuéllar, Harry Pachajoa, Neus Martínez-Abadías   +10 more
doaj   +1 more source

The Bacteriophage–Phage-Inducible Chromosomal Island Arms Race Designs an Interkingdom Inhibitor of dUTPases

Microbiology Spectrum, 2023
Stl, the master repressor of the Staphylococcus aureus pathogenicity islands (SaPIs), targets phage-encoded proteins to derepress and synchronize the SaPI and the helper phage life cycles. To activate their cycle, some SaPI Stls target both phage dimeric
Carla Sanz-Frasquet, J. Rafael Ciges-Tomas, Christian Alite, José R. Penadés, Alberto Marina   +4 more
doaj   +1 more source

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism

Frontiers in Cellular Neuroscience, 2014
Friedreich ataxia is considered a neurodegenerative disorder involving both the peripheral and central nervous systems. Dorsal root ganglia (DRG) are the major target tissue structures.
Arantxa eBolinches-Amorós, Arantxa eBolinches-Amorós, Arantxa eBolinches-Amorós, Belén eMollá, Belén eMollá, Belén eMollá, David ePla-Martín, David ePla-Martín, David ePla-Martín, Francesc ePalau, Francesc ePalau, Francesc ePalau, Francesc ePalau, Pilar eGonzalez-Cabo, Pilar eGonzalez-Cabo, Pilar eGonzalez-Cabo   +15 more
doaj   +1 more source

El uso de Facebook en asociaciones españolas de enfermedades raras: ¿cómo y para qué lo utilizan?

Gaceta Sanitaria, 2015
Objetivo: Estudiar si el uso de Facebook está extendido en el ámbito de las asociaciones de pacientes con enfermedades raras y, en caso afirmativo, con qué fin se está utilizando.
Manuel Armayones, Samantha Requena, Beni Gómez-Zúñiga, Modesta Pousada, Antonio M. Bañón   +4 more
doaj   +1 more source

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes

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, Elena Vallespín, Elena G. Arias-Salgado, Carmen Sánchez-Valdepeñas, Yari Giménez, Susana Navarro, Paula Río, Massimo Bogliolo, Roser Pujol, Montserrat Peiró, Julián Nevado, Josune Zubicaray, Elena Sebastián, Albert Catalá, Cristina Beléndez, Cristina Díaz de Heredia, Ana Galera, Isabel Badell, Luis Madero, Rosario Perona, Leandro Sastre, Jordi Surrallés, Juan Bueren, Pablo Lapunzina, Julián Sevilla   +24 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

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, Ana M García-Cabrero, Gentzane eSánchez-Elexpuru, Gentzane eSánchez-Elexpuru, José M Serratosa, José M Serratosa, Marina P Sanchez, Marina P Sanchez   +7 more
doaj   +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, Enrique Fernández-Tabanera, Enrique Fernández-Tabanera, Raquel M. Melero-Fernández de Mera, Raquel M. Melero-Fernández de Mera, Javier Alonso, Javier Alonso   +6 more
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