565 research outputs found
Las personas refugiadas LGTBIQ+: análisis e identificación de sus necesidades y sensibilización ciudadana.
Las personas refugiadas LGTBIQ+ sufren en la actualidad una doble discriminación racial y sexual, a pesar de las actuaciones sociales en materia de acogida del colectivo inmigrante. Esto puede ser el resultado de la ineficacia de las políticas migratorias y de la falta de sensibilización social de la población autóctona. El presente trabajo analiza a través de métodos cualitativos, las necesidades de las personas refugiadas LGTBIQ+ y las actuaciones dirigidas a satisfacerlas en una entidad social en Zaragoza, así como los niveles de sensibilización social en diferentes grupos de personas con una marcada heterogeneidad. Tanto las entidades especializadas en la población diana de este estudio como la ciudadanía, son dos actores sociales imprescindibles para lograr la inclusión real de las personas refugiadas LGTBIQ+. <br /
Eficacia de un Programa Multidisciplinar de Gestión de Cuidados en Pacientes que Ingresan por Insuficiencia Cardiaca (ProMIC)
Objetivo:
Evaluar
la
eficacia
de
«
ProMIC
»
,
programa
multidisciplinar
de
atención
a
pacientes
con
insuficiencia
cardiaca
(IC),
para
reducir
de
la
tasa
de
reingresos
por
IC.
Dise
̃
no:
Ensayo
cuasiexperimental
multicéntrico
con
grupo
control.
Emplazamiento:
Doce
centros
de
salud
y
3
hospitales
del
País
Vasco.
Participantes:
Pacientes
mayores
de
40
a
̃
nos
ingresados
por
IC
en
situación
funcional
ii-iv
de
la
New
York
Heart
Association.
Intervenciones:
En
los
pacientes
ProMIC
se
realizó
una
intervención
clínica
estructurada
basada
en
las
guías
de
práctica
clínica
y
en
el
modelo
de
atención
a
la
cronicidad.
Los
pacientes
control
recibieron
cuidados
habituales.
Mediciones
principales:
Tasa
de
reingresos
por
IC
y
calidad
de
vida
relacionada
con
la
salud.Objective: To assess the efficacy of the ProMIC, multidisciplinary program for patients admitted at hospital because of heart failure (HF) programme, in reducing the HF-related readmission rate.
Desing: Quasi-experimental research with control group.
Settings: Twelve primary health care centres and 3 hospitals from the Basque Country.
Participants: Aged 40 years old or above patients admitted for HF with a New York Heart Association functional class II to IV.
Interventions: Patients in the intervention group carried out the ProMIC programme, a structured clinical intervention based on clinical guidelines and on the chronic care model. Control group received usual care.
Main measurements: The rate of readmission for HF and health-related quality of life Results: One hundred fifty five patients were included in ProMIC group and 129 in control group. 45 rehospitalisation due to heart failure happened in ProMIC versus 75 in control group (adjusted hazard ratio=0.59, CI 95%:0.36-0.98; P=.049). There were significant differences in specific quality of Life al 6 months. No significant differences were found in rehospitalisation due to all causes, due to cardiovascular causes, visits to emergency room, mortality, the combined variable of these events, the functional capacity or quality of life at 12 months of follow up.
Conclusions: ProMIC reduces significantly heart failure rehospitalisation and improve quality of life al 6 months of follow up. No significant differences were found in the rests of variables (C) 2018 The Authors. Published by Elsevier Espana, S.L.U.Departamento
de
salud
del
Gobierno
Vasco:
N.
o
de
expe-
diente
2010111182
Bizkaia
y
N.
o
de
expediente
2010111088
Araba.
Fundación
Vasca
de
Innovación
e
investigación
sani-
taria
BIOEF:
Expediente
BIO10/EC/004
Aplicación del 8d y de los principios Lean para la mejora de la seguridad y prevención de obras de edificación
OBJETIVO: El objetivo del artículo es identificar mejoras en la Seguridad y Salud en el Trabajo (SST) en las Obras de Edificacióna través de la aplicación de los conceptos de la filosofía Lean y la metodología BIM. METODOLOGÍA: 1º.- Revisión bibliográficaConsejo General de la Arquitectura Técnica de Españ
Equiparación de LOD para su aplicación en edificación en España
Establecer un marco conceptual en el que se equiparan el grado de definición del modelo BIM y el nivel de desarrollo conforme a la Especificación LOD (Level of Development Specification) con las diferentes fases del proyecto de edificación en España, relacionándolos con el uso posterior del modelo, en función de las dimensiones BIM. La metodología investigadora utilizada en este artículo se basó en: Revisión bibliográfica: Dimensiones BIM, Especificación LOD y fases del proyecto de edificación. Encuesta-cuestionario: valoración para la validación del modelo. Aplicación del conocimiento y la experiencia previa de los autores sobre el sector. El marco conceptual establecido se materializa en la Tabla 3 y Figura 3, que, de manera resumida, implica: - LOD 100 resulta equiparable con el croquis del proyecto (Dimensiones BIM 2D y 3D). - LOD 200 tiene aspectos comunes con el anteproyecto (2D, 3D y 5D*). - LOD 300 y 350 son equiparables con el proyecto básico (2D, 3D, 4D*, 5D* y 6D*). - LOD 400 es el nivel que se ajusta con el de ejecución (2D, 3D, 4D, 5D y 6D). - LOD 500 se corresponde con la documentación final de obra (2D, 3D, 4D, 5D y 6D, 7D…..nD*). El (*) implica que la dimensión no se ajusta por completo a la fase de desarrollo de proyecto. En un momento en el que en España se inicia oficialmente la implementación de BIM, resulta urgente establecer un marco conceptual que regule cómo debe desarrollarse el modelo. Ello supone analizar la manera en la que otros países lo han implementado y trasladar su experiencia al sector de la Construcción español, lo que permite, además, concluir que sería una gran ventaja la implementación conjuntamente en el tiempo con Lean.Consejo General de la Arquitectura Técnica de Españ
More than one HMG-CoA Lyase: The classical mitochondrial enzyme plus the peroxisomal and the cytosolic ones
There are three human enzymes with HMG-CoA lyase activity that are able to synthesize ketone bodies in different subcellular compartments. The mitochondrial HMG-CoA lyase was the first to be described, and catalyzes the cleavage of 3-hydroxy-3-methylglutaryl CoA to acetoacetate and acetyl-CoA, the common final step in ketogenesis and leucine catabolism. This protein is mainly expressed in the liver and its function is metabolic, since it produces ketone bodies as energetic fuels when glucose levels are low. Another isoform is encoded by the same gene for the mitochondrial HMG-CoA lyase (HMGCL), but it is located in peroxisomes. The last HMG-CoA lyase to be described is encoded by a different gene, HMGCLL1, and is located in the cytosolic side of the endoplasmic reticulum membrane. Some activity assays and tissue distribution of this enzyme have shown the brain and lung as key tissues for studying its function. Although the roles of the peroxisomal and cytosolic HMG-CoA lyases remain unknown, recent studies highlight the role of ketone bodies in metabolic remodeling, homeostasis, and signaling, providing new insights into the molecular and cellular function of these enzymes
Molecular Basis of the Schuurs–Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches
The Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopment Disorder (PACS1-NDD) is a rare autosomal dominant disease caused by mutations in the PACS1 gene. To date, only 87 patients have been reported and, surprisingly, most of them carry the same variant (c.607C>T; p.R203W). The most relevant clinical features of the syndrome include neurodevelopment delay, seizures or a recognizable facial phenotype. Moreover, some of these characteristics overlap with other syndromes, such as the PACS2 or Wdr37 syndromes. The encoded protein phosphofurin acid cluster sorting 1 (PACS-1) is able to bind to different client proteins and direct them to their subcellular final locations. Therefore, although its main function is protein trafficking, it could perform other roles related to its client proteins. In patients with PACS1-NDD, a gain-of-function or a dominant negative mechanism for the mutated protein has been suggested. This, together with the fact that most of the patients carry the same genetic variant, makes it a good candidate for novel therapeutic approaches directed to decreasing the toxic effect of the mutated protein. Some of these strategies include the use of antisense oligonucleotides (ASOs) or targeting of its client proteins
Bacterial cellulose for increasing barrier properties of paper products
Bacterial cellulose was combined with wood cellulose papers in order to obtain biomaterials with increased barrier properties. For this purpose, different parameters were assessed: two producing bacterial strains (Komagataeibacter xylinus and Gluconacetobacter sucrofermentans), two paper supports to hold bacterial cellulose (filter paper and eucalyptus paper), two kinds of combined biomaterials (composite and bilayer) and two drying temperatures (90 °C and room temperature). Papers with increased barrier properties (100° of water contact angle, 1220 s of water drop test and air permeability < 1 µm (Pa s)-1) were obtained by the addition of bacterial cellulose to each paper support. However, due to the lower initial barrier properties of filter paper, higher improvements were produced with this paper. In addition, bacterial cellulose provided smoother surfaces with higher gloss without a detrimental effect on physical properties. Higher resistance to water absorption was obtained with K. xylinus possibly explained by its longer size fibers than G. sucrofermentans, as analysed by SEM. Smoothness and gloss were specially increased in the bilayer biomaterial although resistance to air and water were further improved in the composite. In this biomaterial drying at high temperature had a detrimental effect. SEM analysis of the products obtained showed the intimate contact among fibers of bacterial cellulose and wood paper. Results obtained show the contribution of bacterial cellulose to improve the properties of paper and its potential for the design of new added value paper products from biomassPostprint (author's final draft
Heart disease characterization and myocardial strain analysis in patients with PACS1 Neurodevelopmental Disorder
Background: PACS1 neurodevelopmental disorder (PACS1-NDD) (MIM# 615009) is a rare autosomal dominant disease characterized by neurodevelopmental delay, dysmorphic facial features, and congenital malformations. Heart disease (HD) is frequently present in individuals with PACS1-NDD, but a compressive review of these anomalies and an evaluation of cardiac function in a cohort of patients are lacking.
Methods: (i) Cardiac evaluation in 11 PACS1-NDD patients was conducted using conventional echocardiography. (ii) Heart function was assessed by tissue Doppler imaging, and two-dimensional speckle tracking was performed in seven patients and matched controls. (iii) This systematic review focused on determining HD prevalence in individuals with PACS1-NDD.
Results: In our cohort, 7 of 11 patients presented HD. (Among them, three cases of ascending aortic dilatation (AAD) were detected and one mitral valve prolapse (MVP).) None of the patients showed echocardiographic pathological values, and the left global longitudinal strain was not significantly different between patients and controls (patients −24.26 ± 5.89% vs. controls −20.19 ± 1.75%, p = 0.3176). In the literature review, almost 42% (42/100) of individuals with PACS1-NDD reportedly experienced HD. Septal defects were the most common malformation, followed by patent ductus arteriosus.
Conclusions: Our results show a high prevalence of HD in PACS1-NDD patients; in this way, AAD and MVP are reported for the first time in this syndrome. Furthermore, a detailed cardiac function evaluation in our cohort did not reveal evidence of cardiac dysfunction in individuals with PACS1-NDD. Cardiology evaluation should be included for all individuals with Schuurs-Hoeijmakers syndrome
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome
(CdLS) that can have major clinical implications. Here, we further delineate the role of somatic
mosaicism in CdLS by describing a series of 11 unreported patients with mosaic disease-causing
variants in NIPBL and performing a retrospective cohort study from a Spanish CdLS diagnostic
center. By reviewing the literature and combining our findings with previously published data, we
demonstrate a negative selection against somatic deleterious NIPBL variants in blood. Furthermore,
the analysis of all reported cases indicates an unusual high prevalence of mosaicism in CdLS,
occurring in 13.1% of patients with a positive molecular diagnosis. It is worth noting that most of
the affected individuals with mosaicism have a clinical phenotype at least as severe as those with
constitutive pathogenic variants. However, the type of genetic change does not vary between
germline and somatic events and, even in the presence of mosaicism, missense substitutions are
located preferentially within the HEAT repeat domain of NIPBL. In conclusion, the high prevalence
of mosaicism in CdLS as well as the disparity in tissue distribution provide a novel orientation for the
clinical management and genetic counselling of families.post-print3237 K
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11.
post-print509 K
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