Search results for "OSiS"
showing 10 items of 15931 documents
Oncogenic BRAF and p53 Interplay in Melanoma Cells and the Effects of the HDAC Inhibitor ITF2357 (Givinostat)
2023
Oncogenic BRAF mutations have been widely described in melanomas and promote tumour progression and chemoresistance. We previously provided evidence that the HDAC inhibitor ITF2357 (Givinostat) targets oncogenic BRAF in SK-MEL-28 and A375 melanoma cells. Here, we show that oncogenic BRAF localises to the nucleus of these cells, and the compound decreases BRAF levels in both the nuclear and cytosolic compartments. Although mutations in the tumour suppressor p53 gene are not equally frequent in melanomas compared to BRAF, the functional impairment of the p53 pathway may also contribute to melanoma development and aggressiveness. To understand whether oncogenic BRAF and p53 may cooperate, a po…
Methylprednisolone-induced hepatotoxicity in a 16-year-old girl with multiple sclerosis.
2018
Multiple sclerosis (MS) is a chronic inflammatory disease with demyelination of the central nervous system. High-dosage corticosteroids are the first-line therapy in the acute relapsing of MS. We report a case of severe high-dose methylprednisolone-induced acute hepatitis in a patient with a new diagnosis of MS. A 16-year-old girl was admitted for urticaria, angioedema, nausea and vomiting a month later she had been diagnosed with MS and treated with high-dosage methylprednisolone. Laboratory investigations showed hepatic insufficiency with grossly elevated liver enzymes. A liver biopsy showed focal centrilobular hepatocyte necrosis with interface hepatitis. Methylprednisolone-induced hepat…
MALATTIA OSSEA DI PAGET
2010
Genetic analysis of familial Alzheimer’s disease, primary lateral sclerosis and paroxysmal kinesigenic dyskinesia: a tool to uncover common mechanist…
2021
Tesis doctoral 270 p. figuras y tablas
Diagnóstico genético ovocitario mediante análisis del primer corpúsculo polar
2023
El desarrollo de nuevas tecnologías de cribado genético informa que la mayoría de la población es portadora, en heterocigosis, de alguna variante patogénica causante de enfermedades monogénicas; generando la mitad de sus gametos libres de la mutación y la otra mitad portadores. En el ámbito de la reproducción humana asistida, el diagnóstico molecular de los ovocitos permitiría seleccionar aquéllos libres de una variante patogénica particular, previamente a la fecundación; maximizando las probabilidades de obtener descendencia sana o portadora, según el escenario particular de cada pareja. Actualmente, el estudio molecular directo del ovocito fecundable no es posible, ya que su diagnóstico i…
Cell Mediated Immune System Hyperactivation and Complications in Surgery. Is There a Correlation?
2010
Introduction: The role of the immune system in wound healing is multifaceted and cell-to-cell interactions may affect healing in several ways, many of which are probably still unknown. The case of a 19-year-old girl who, after multiple postsurgical complications, was found to have a transient immune system hyperactivation is reported. Materials and Methods: A 19-years-old woman with a breast asymmetry, previously treated with breast augmentation and contralateral reduction mammaplasty, had her implant removed and she came to our attention seeking autologous reconstruction. A free DIEP flap was performed and, again, wound breakdown and liponecrosis ensued at both the donor and recipient site…
'At risk mental state' clinics for psychosis - An idea whose time has come - And gone!
2019
AbstractAt Risk Mental State (ARMS) clinics are specialised mental health services for young, help-seeking people, thought to be at ultra-high risk of developing psychosis. Their stated purpose is to reduce transitions from the ARMS state to clinical psychotic disorder. Reports of ARMS clinics provide ‘evidence-based recommendations’ or ‘guidance’ for the treatment of such individuals, and claim that such clinics prevent the development of psychosis. However, we note that in an area with a very well-developed ARMS clinic (South London), only a very small proportion (4%) of patients with first episode psychosis had previously been seen at this clinic with symptoms of the ARMS. We conclude th…
Evaluación de los signos precoces de aterosclerosis en niños con Diabetes Mellitus tipo 1
2015
INTRODUCCIÓN La Diabetes Mellitus tipo 1 (DM1) representa un importante factor de riesgo de enfermedad cardiovascular. La ecografía de la arteria carótida común derecha se ha establecido como una técnica útil y fiable para valorar la presencia de cambios ateroscleróticos subclínicos. Estos signos precoces se manifiestan con el aumento del índice grosor íntima-media carotídeo (GIMc). Previamente a esta alteración estructural, se afecta la función endotelial, que se valora mediante la estimación de los parámetros de rigidez arterial. OBJETIVOS Evaluar el GIMc y los índices de rigidez arterial, en una población de niños con DM1, en comparación con una población de niños sanos, de similares eda…
Utilidad de la tomografía computarizada en el diagnóstico de la tuberculosis en niños
2015
Tras la primoinfección, la mayoría de los pacientes desarrollan una infección tuberculosa latente (ITL), pero un porcentaje evoluciona a enfermedad tuberculosa (ET). Es importante diferenciar estas entidades dado que requieren pautas de tratamiento diferentes. El diagnóstico de la tuberculosis (TB) depende, con frecuencia, de la detección de anomalías en la radiografía de tórax. Las adenopatías son el hallazgo radiológico más frecuente. Sin embargo diferentes autores han demostrado que la radiografía de tórax tiene poca sensibilidad y especificidad para su detección. La tomografía coputarizada (TC) se considera la modalidad radiológica de elección para la detección de las adenopatías, pero …