Incontinencia pigmenti. Estudio descriptivo de la experiencia en dos centros hospitalarios.

Incontinentia pigmenti is a rare genodermatosis of inheritance linked to the Xchromosome that affects tissues derived from ectoderm. The aim of the study is to review, as completely as possible, the cases diagnosed in paediatric patients in two hospitals. A retrospective cross-sectional study was carried out, using the clinical, analytical, radiological, and genetic data of paediatric patients diagnosed with incontinentia pigmenti from 2004 to 2018. The data collected were analysed and evaluated at a multidisciplinary level. A total of thirteen patients diagnosed with incontinentia pigmenti were included in the study. All of them were female. A genetic study was performed on 11 patients, which confirmed findings compatible with incontinentia pigmenti in 10 of them. Extracutaneous involvement associated with the disease was observed at neurological level (radiological findings in 6 cases, and clinical expression in 3 of them), ophthalmological level (4 cases), dental level (7 cases), and haematological level (4 cases). A presentation is given of the most complete study published so far of incontinentia pigmenti in Spain. In this study, the results of the disease manifestations were similar to the largest case series published internationally, which reinforces the importance of a multidisciplinary study and follow-up

Técnicas De Aprendizaje-HU308-201602

Elegir iniciar una carrera universitaria es una opción importante que implica una serie de ajustes adaptativos para llevar una vida saludable y exitosa académicamente. Continuar estudiando es una opción de vida que supone un largo proceso de adquisición de conocimientos desarrollo de habilidades y fortalecimiento de actitudes basadas en valores.A través del curso Técnicas de Aprendizaje el alumno adquiere destrezas aplicando conocimientos y herramientas que le permiten enfrentar y resolver situaciones que se presentan en el transcurso de la vida universitaria. Desarrollando una actitud responsable hacia su desarrollo tanto personal como de la comunidad a la que pertenec

Prospective randomized trial of 5 days azacitidine versus supportive care in patients with lower-risk myelodysplastic syndromes without 5q deletion and transfusion-dependent anemia

Grupo Andaluz SMD.In this prospective trial, the efficacy of azacitidine in lower-risk myelodysplastic syndromes (LR-SMD) lacking del(5q) was compared to best supportive care (BSC) at 1:1. The primary endpoint was the achievement of erythroid hematologic improvement (HI-E) after nine cycles. Thirty-six patients received at least ≥1 cycle. HI-E was confirmed 44.4% randomized to Aza and in 5.5% of patients receiving BSC (p <.01). After entry in Aza extension period, transfusion independence was achieved in all Aza responders with a median duration of 50 weeks (range: 17–231). No significant differences were observed in secondary endpoints. Importantly, variant allele frequency (VAF) of some mutated genes (RET, SF3B1, ASXL1) decreased after 9 months of treatment in Aza-responder patients. In conclusion, LR-MDS patients lacking del5q and resistant to ESAs, who receive 5 days Aza, achieve TI in a substantial proportion of cases and results in modifications in mutational landscape.Peer Reviewe

Evaluation of the outcomes of newly diagnosed patients with high-risk myelodysplastic syndrome according to the initial therapeutical strategies chosen in usual clinical practice

Myelodysplastic syndromes (MDS) are a heterogeneous group of diseases without a care standard and show variability in treatment outcomes. This Spanish, observational, prospective study ERASME (CEL-SMD-2012-01) assessed the evolution of newly diagnosed and treatment-naïve high-risk MDS patients (according to IPPS-R). 204 patients were included: median age 73.0 years, 54.4% males, 69.6% 0-1 ECOG, and 94.6% with comorbidities. Active treatment was the most common strategy (52.0%) vs. stem cell transplantation (25.5%) and supportive care/watchful-waiting (22.5%). Overall (median) event-free survival was 7.9 months (9.1, 8.3, and 5.3); progression-free survival: 10.1 months (12.9, 12.8, and 4.3); and overall survival: 13.8 months (15.4, 14.9; 8.4), respectively, with significant differences among groups. Adverse events (AEs) of ≥3 grade were reported in 72.6% of patients; serious AEs reported in 60.6%. 33.1% of patients died due to AEs. Three patients developed second primary malignant neoplasms (median: 8.2 months). Our study showed better outcomes in patients receiving active therapy early after diagnosis

IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

Ichthyosis follicularis with atrichia and photophobia (IFAP syndrome) is a rare X-linked, oculocutaneous human disorder. Here, we assign the IFAP locus to the 5.4 Mb region between DXS989 and DXS8019 on Xp22.11-p22.13 and provide evidence that missense mutations exchanging highly conserved amino acids of membrane-bound transcription factor protease, site 2 (MBTPS2) are associated with this phenotype. MBTPS2, a membrane-embedded zinc metalloprotease, activates signaling proteins involved in sterol control of transcription and ER stress response. Wild-type MBTPS2 was able to complement the protease deficiency in Chinese hamster M19 cells as shown by induction of an SRE-regulated reporter gene in transient transfection experiments and by growth of stably transfected cells in media devoid of cholesterol and lipids. These functions were impaired in five mutations as detected in unrelated patients. The degree of diminished activity correlated with clinical severity as noted in male patients. Our findings indicate that the phenotypic expression of IFAP syndrome is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol homeostasis and ability to cope with ER stress

Nivelación de lenguaje - HU24 201801

Descripción: Nivelación de Lenguaje es un curso de formación general, de carácter práctico, dirigido a estudiantes de primeros ciclos. Esta asignatura busca desarrollar habilidades de redacción prácticas, aterrizadas en un correlato real de escritura determinado: un correo electrónico, una publicación de Facebook, etc. Para ello, el curso se orienta a afianzar las habilidades relacionadas con la organización del texto, así como los conocimientos básicos sobre la normativa de la lengua española. Lo aprendido en esta asignatura ofrecerá al estudiante las herramientas lingüísticas básicas idóneas para desarrollarse con suficiencia en una redacción cotidiana, en un comentario en sus redes sociales o en un examen de algún curso. Propósito: El curso desarrolla la competencia de Comunicación Escrita, en el nivel 1; es decir, el estudiante es capaz de construir mensajes coherentes y sólidos que se adecúan a la situación y propósito comunicativo. Este desarrollo le permite la generación y construcción de nuevas ideas, lo cual es relevante para su vida académica y profesional. La actual sociedad de la información y el conocimiento, caracterizada por la disrupción, la innovación y la complejidad en las formas de comunicación mediadas por la tecnología, enfrenta al estudiante y al profesional a nuevos retos en las maneras de comunicar aquello que conoce y que construye. En este escenario, la competencia comunicativa escrita adquiere protagonismo como herramienta para transmitir el conocimiento creado. El curso se alinea con esta exigencia, pues contribuye a que el estudiante responda exitosamente a las demandas comunicativas del contexto académico, y a que el egresado pueda desenvolverse idóneamente en el campo profesional y laboral