Results 41 to 50 of about 56,471 (208)
Impacto de los medicamentos huérfanos en el Hospital de Fuenlabrada [PDF]
, 2015 Las enfermedades raras tienen una baja prevalencia, si bien en su conjunto afectan a un número significativo de personas, se calcula que en la Unión Europea los afectados representan entre el 6 y 8% de la población, es decir, entre 27 y 36 millones de ...
Sanaa, Arabi
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Effects of Tributyltin Chloride on Human Neuronal Differentiation and Mice Brain Development
Environmental Toxicology, EarlyView.ABSTRACT According to the developmental origins of health and disease hypothesis, perinatal exposure to an environmental toxicant during the development of the nervous system could cause a permanent cellular modification that may promote the appearance of neurodegenerative diseases at an older age.
Ester López‐Gallardo +10 more
wiley +1 more source
Enfermedades raras desde la farmacia comunitaria
Pharmaceutical Care España, 2022 Introducción: la visibilidad de las Enfermedades Raras a nivel multidisciplinar y su humanización, son uno de los retos planteados en la Agenda 2030 de Naciones Unidas. El farmacéutico comunitario necesita renovarse y promover habilidades, como técnicas de atención farmacéutica individualizada, imprescindibles para el apoyo de estos pacientes.
Eloisa Maria De Velasco +4 more
openaire +3 more sources
Exploring the genetic overlap between substance use disorder and educational attainment
Addiction, EarlyView.Abstract Background and aims Substance use disorder (SUD) is a polygenic psychiatric condition characterized by persistent drug use despite negative consequences. Several studies support that higher cognitive performance and educational attainment (EA) are associated with a reduced risk for SUD.
Judit Cabana‐Domínguez +16 more
wiley +1 more source
Avenços en el diagnòstic de l'anèmia de Fanconi [PDF]
, 2011 L'anèmia de Fanconi es una malaltia poc freqüent que provoca anèmia progressiva i predisposició al càncer. Actualment, el seu diagnòstic, basat en un test de fragilitat cromosòmica, no és precís.
Surrallés i Calonge, Jordi
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Enfermedades: raras, un verdadero reto
Acta Médica Costarricense, 2020 En estos días se ha dado a conocer en la prensa nacional el caso de unas pacientes con enfermedad de Pompe y la necesidad que tienen que la CCSS, les provea un medicamento que supuestamente puede paliar dicha patología. El medicamento no solo es caro, sino que su eficacia no está completamente demostrada, según la publicación periodística.
openaire +2 more sources
Andrology, EarlyView.ABSTRACT Background The Testicular Cancer Consortium (TECAC) was established in 2012 and is comprised of researchers from over 25 centers in Europe and North America. TECAC's overarching goal is to investigate the genetic susceptibility of testicular germ cell tumors (TGCT) to better understand their biology, impact prevention strategies, and inform ...
Peter A. Kanetsky +28 more
wiley +1 more source
Network perspective of histamine related diseases [PDF]
, 2017 Histamine is the most pleiotropic biogenic amine. Produced and stored by a limited set of cells—histaminergic neurons, enterochromaffin-like cells, and mast cells—it broadcasts intercellular communication signals to a wide variety of cell types through ...
Medina, Miguel Ángel +3 more
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Brain Pathology, EarlyView.A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Hasier Eraña +20 more
wiley +1 more source
Scientific Reports, 2021 Parkinson’s disease (PD) is characterized by cerebral dopamine depletion that causes motor and cognitive deficits. The dopamine-related gene ANKK1 has been associated with neuropsychiatric disorders with a dopaminergic deficiency in the striatum.
Estela Pérez-Santamarina +8 more
doaj +1 more source