Results 41 to 50 of about 27,190 (212)
Complejo de esclerosis tuberosa
Revista Ciencias Biomédicas, 2020 Introducción: el complejo esclerosis tuberosa (CET) es un síndrome neurocutáneo de herencia autosómica dominante (AD), caracterizado por la formación de múltiples hamartomas debido a la mutación de los genes TSC1 y TSC2 encargados de codificar proteínas
Miriam Barboza Ubarnes +2 more
doaj +1 more source
Anthropometric and musculoskeletal assessment of patients with Marfan syndrome [PDF]
, 2011 CONTEXTUALIZAÇÃO: A Síndrome de Marfan (SM) é uma doença autossômica dominante do tecido conjuntivo que envolve os sistemas ocular, cardiovascular e musculoesquelético, causada por mutações no gene da fibrilina1, gerando flacidez nos ligamentos ...
Brech, Guilherme Carlos +5 more
core +6 more sources
Childhood B cell leukemia: Intercepting the paths to progression
BioEssays, Volume 46, Issue 9, September 2024.In children with leukemia‐predisposing mutations, silent preleukemic cells can evolve into acute lymphoblastic leukemia when exposed to immune stress from various sources. Understanding the mechanisms behind the inflammation triggered by this stress, and its effects on preleukemic cells, may aid in developing preventive strategies against leukemia ...
Cesar Cobaleda +3 more
wiley +1 more source
, 2021 Research and Practice in Thrombosis and Haemostasis, Volume 5, Issue S2, October 2021.
wiley +1 more source
The Journal of Physiology, Volume 602, Issue 15, Page 3769-3791, 1 August 2024.Abstract figure legend Fmr1 knockout (KO) mice are commonly used as a model to understand the molecular, synaptic, cellular and neural network bases of fragile X syndrome as they reproduce some of the behavioural abnormalities of the syndrome. Dorsal pyramidal cells (PCs) of the hippocampal CA1 region of Fmr1 KO mice exhibit hyperexcitability, which is
M. Angeles Luque +3 more
wiley +1 more source
UEG Week 2021 Oral Presentations
, 2021 United European Gastroenterology Journal, Volume 9, Issue S8, Page 7-161, October 2021.
wiley +1 more source
Efectividad del vigabatrín en niños. Estado del arte
Acta Neurológica Colombiana, 2023 Presentamos una revisión respecto a Vigabatrin en el tratamiento de epilepsia en niños, haciendo énfasis en Sindrome de West y epilepsia focal. En el primer caso la evidencia es comparable con la descrita para esteroides, sin embargo la incidencia de ...
Angélica Uscátegui Daccarett. +1 more
doaj +2 more sources
Tomografía de emisión de fotones cerebral. Valor del índice corticocerebeloso y patrones gammagráficos en la enfermedad de Alzheimer y otras afecciones [PDF]
, 1991 Brain single photon emission computed tomography (SPECT) with 99mTc-HMPAO is a diagnostic tool for evaluating regional cerebral blood flow. Recently, the diagnostic possibilities of the method are being investigated in some neurologic disorders, such as ...
Arbizu, J. (Javier) +6 more
core
Crises epilépticas da síndrome de Lennox-Gastaut: I- formas convulsivas
Arquivos de Neuro-Psiquiatria, 1977 Estudaram-se as crises epilépticas convulsivas de 27 pacientes com síndrome de Lennox-Gastaut (20 sem antecedente de síndrome de West e 7 com esse antecedente.
José Geraldo Speciali +1 more
doaj +1 more source
Uso medicinal da cannabis no Brasil: o instituto do fumus boni iuris garantindo o direito a saúde
Jornal de Assistência Farmacêutica e Farmacoeconomia, 2023 Introdução: Há situações clínicas em que os medicamentos disponíveis são ineficazes, ocorrendo a prescrição de drogas importadas e/ou não registradas na Anvisa.
Marcelo Tavares Pereira +1 more
doaj +1 more source