Search results for "Infant"
showing 10 items of 3339 documents
First experience of the AML-Berlin-Frankfurt-Münster group in pediatric patients with standard-risk acute promyelocytic leukemia treated with arsenic…
2017
Recently, studies in adults with acute promyelocytic leukemia (APL) showed high cure rates in low-risk patients treated with all-trans retinoid acid (ATRA) and arsenic trioxide (ATO), while toxicities were significantly reduced compared to the standard treatment with ATRA and chemotherapy. Here we report about first experience with 11 pediatric patients with low-risk APL treated with ATRA and ATO. All patients stayed in molecular remission. All suffered from hyperleukocytosis. Two patients experienced reversible severe side effects. One suffered from osteonecroses at both femurs, seizures, as well as posterior reversible encephalopathy syndrome, the other patient had an abducens paresis.
El «Llibre de les Bèsties» (1287-1289) de Ramon Llull: anàlisi d'adaptacions infantils i juvenils
2020
En aquest article presentem una anàlisi de les sis adaptacions que del Llibre de les Bèsties (1287- 1289) es van publicar per al públic infantil i juvenil amb motiu de l’Any Llull (2015-2016). Després de presentar la figura de Ramon Llull com a escriptor de referència en l’època medieval i de situar Llibre de les Bèsties dins de la producció literària de Llull, analitzem els paratextos extratextuals i textuals de les sis adaptacions aquí estudiades. La presentació i l’anàlisi d’aquests paratextos ens permet determinar, d’una banda, a quin tipus de nivell lector va adreçada cada adaptació i quin treball didàctic en pot resultar; i, d’altra banda, com el missatge que Llull transmet en aquesta…
Historia de vida de un alumno con distrofia muscular
2016
La distrofia muscular es una enfermedad que avanza muy rápida entre los 7 y los 12 años y poco común. Sus síntomas son la falta de movilidad en las extremidades y complicaciones a la hora de respirar. En este trabajo, a partir de la historia de vida de un adolescente con distrofia muscular de Duchenne, se pretende analizar cuáles son las dificultades que sufren los niños que la padecen en la escuela tanto a nivel material como a nivel de implicación y trabajo de los educadores. Esto ligado a una propuesta de con actividades que podrían realizar los maestros y maestras dentro de su aula con un alumnado con dicha enfermedad.
Case study : curriculum access accommodations in preschool student with cerebral palsy
2012
Se presenta el contenido de una intervención con un alumno de educación infantil afectado de parálisis cerebral. La intervención se basa en una adaptación de acceso al currículum consistente en el diseño de tareas y actividades educativas con soporte informático accesible al alumno y adecuadas al nivel curricular propio para su edad y curso académico. Esta metodología garantiza al alumno un acceso al currículum minimizando los efectos de sus problemas de movilidad.
UNA RARA CAUSA DI ADDOME ACUTO NELL'INFANZIA. L'Epiploite acuta segmentaria
1988
L'Epiploite acuta segmentaria è fra le cause più rare di addome acuto nell'infanzia. Gli Autori ne riportano tre casi.
MEN1 Disease Occurring Before 21 Years Old: A 160-Patient Cohort Study From the Groupe d'étude des Tumeurs Endocrines
2015
Multiple endocrine neoplasia Type-1 (MEN1) in young patients is only described by case reports.To improve the knowledge of MEN1 natural history before 21 years old.Obtain a description of the first symptoms occurring before 21 years old (clinical symptoms, biological or imaging abnormalities), surgical outcomes related to MEN1 Neuro Endocrine Tumors (NETs) occurring in a group of 160 patients extracted from the "Groupe d'étude des Tumeurs Endocrines" MEN1 cohort.The first symptoms were related to hyperparathyroidism in 122 cases (75%), pituitary adenoma in 55 cases (34%), nonsecreting pancreatic tumor (NSPT) in 14 cases (9%), insulinoma in 20 cases (12%), gastrinoma in three cases (2%), mal…
Orbital volume and shape in Treacher Collins syndrome
2018
Orbito-palpebral reconstruction is a challenge in Treacher Collins syndrome (TCS). This study investigates orbital phenotypes in TCS using cephalometry and orbital shape analysis. Eighteen TCS and 52 control patients were included in this study, using the Dr Warehouse database. Orbital cephalometry was based on 20 landmarks, 10 planes, 16 angles, and 22 distances. Orbits were segmented. Registration-based, age-specific mean models were generated using semi-automatic segmentation, and aligned and compared using color-coded distance maps - mean absolute distance (MAD), Hausdorff distance (HD), and Dice similarity coefficient (DSC). Symmetry was assessed by mirroring and DSC computing. Central…
L'alessitimia come disturbo della regolazione affettiva
2014
Alexithymia is a theoretical construct concerning the ability to contact our feelings and the ability to describe them in words. It is very useful in clinical experience and also in empirical research for its operationalization and applicability possibility. After more than 40 years from its original definition, with clinical observation of patients defined “psychosomatics” according a classic definition, alexithymia has become one of the most investigated disease in the last decades. This paper aims to explore etiopathogenetic hypotheses and contemporaneous prospective within which it is possible to understand the relevance of the construct both in clinical experience and in empirical rese…
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
2010
Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ, Michelakakis H, Plecko B, Paschke E. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset, caused by alterations in the structural gene coding for lysosomal acid s-galactosidase (GLB1). In addition, allelic variants of this gene can result in Morquio B disease (MBD), a phenotype with dysostosis multiplex and entire lack of neurologic involvement. More than 100 sequence alterations in the GLB1 gene have been identified so far, but only few could be proven to …
Celiac disease and selective immunoglobulin A deficiency
1997
Selective IgA deficiency was observed in 12 of 688 (1.7%) patients with celiac disease who were clinically undistinguishable from patients with celiac disease with normal IgA levels. This high prevalence of IgA deficiency in patients with celiac disease makes serum IgA assay advisable when screening for celiac disease is performed by measurement of antigliadin antibodies or anti-IgA endomysium antibodies. Similarly, subjects with IgA deficiency should be considered at risk of celiac disease.