17 research outputs found
Living the teaching-assistance integration through research
O artigo trata da experiência de integração entre enfermeiras assistenciais e enfermeiras docentes atra vés da pesquisa, focalizando o significado do cuidado para clientes adultos a nível ambulatorial de um hospital de ensino.This article reports the integration experience between registered nurses and nurse educators in a teaching hospital. The study is a research with focus on the care signifícance to adult clients in a outpatient unit.El presente artículo trata de la experiencia de la integración entre enfermeros asistenciales y enfermeros docentes, a través de la investigación, abordando el significado del cuidado para clientes adultos en calidad de consulta en un hospital escuela
VizieR Online Data Catalog: EELGs out to z~1 in zCOSMOS (Amorin+, 2015)
Star formation rates have been computed from Hα or Hβ luminosity (IMF from Chabrier et al. (2003PASP..115..763C) and assuming a theoretical ratio Hα/Hβ=2.82) following Kennicutt (1998ApJ...498..541K). Uncertainties in SFR account for the propagation of errors in line fluxes and reddening. Gas-phase metallicity has been derived using four methods: (1) the direct method (Hagele et al., 2008MNRAS.383..209H); (2) the Te-Z correlation (This work); (3) the N2 calibration (Perez-Montero & Contini, 2009MNRAS.398..949P); and (4) the R23 calibration (McGaugh, 1991ApJ...380..140M) scaled to the direct method using the linear relation presented by Lamareille et al. (2006, Cat. J/A+A/448/893 and 2006A&A...448..907L, see also Perez-Montero et al., 2013A&A...549A..25P). In all cases, 1σ uncertainties in metallicity account for the propagated errors in line fluxes and reddening. (2 data files)
Thr124Met myelin protein zero mutation mimicking motor neuron disease
Mutations in myelin protein zero (MPZ) are associated with heterogeneous manifestations. In this study, we report clinical, electrophysiological, pathological, and muscle MRI findings from two relatives with MPZ Thr124Met variants, disclosing different phenotypes. The proband was a 73-year-old female with a 12-year-story of atrophy, weakness, and fasciculations in her proximal and distal lower limbs. EMG examination showed neurogenic signs with active denervation together with reduced sensory action potentials, without sensory symptoms. The initial diagnosis was of a slowly progressive lower motor neuron disease (MND) with subclinical sensory axonal neuropathy. Two years later, the observation of her 60-year-old nephew, who had a distal sensory-motor neuropathy, prompted the analysis of inherited neuropathies-related genes and revealed a MPZ Thr124Met mutation in both cases. Our findings expand the clinical spectrum of MPZ-related neuropathy and highlight that Thr124Met mutation may cause a syndrome mimicking MND. The challenging issue to detect sensory features in the diagnostic MND work up is discussed
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies
Thanks to advances in gene sequencing, RYR1-related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to develop a novel unsupervised cluster analysis method in a large patient population. The objective was to analyze the main RYR1-related characteristics to identify distinctive features of RYR1-RM and, thus, offer more precise genotype-phenotype correlations in a group of potentially life-threatening disorders. We studied 600 patients presenting with a suspicion of inherited myopathy, who were investigated using next-generation sequencing. Among them, 73 index cases harbored variants in RYR1. In an attempt to group genetic variants and fully exploit information derived from genetic, morphological, and clinical datasets, we performed unsupervised cluster analysis in 64 probands carrying monoallelic variants. Most of the 73 patients with positive molecular diagnoses were clinically asymptomatic or pauci-symptomatic. Multimodal integration of clinical and histological data, performed using a non-metric multi-dimensional scaling analysis with k-means clustering, grouped the 64 patients into 4 clusters with distinctive patterns of clinical and morphological findings. In addressing the need for more specific genotype-phenotype correlations, we found clustering to overcome the limits of the "single-dimension" paradigm traditionally used to describe genotype-phenotype relationships
Prevalence of congenital muscular dystrophy in Italy: a population study
We provide a nationwide population study of patients with congenital muscular dystrophy in Italy
The formation and build-up of the red-sequence over the past 9 Gyr in VIPERS
We present the Luminosity Function (LF) and Colour-Magnitude Relation (CMR) using ~45000 galaxies drawn from the VIMOS Public Extragalactic Redshift Survey (VIPERS). Using different selection criteria, we define several samples of early-type galaxies and explore their impact on the evolution of the red-sequence (RS) and the effects of dust. Our results suggest a rapid build-up of the RS within a short time scale. We find a rise in the number density of early-type galaxies and a strong evolution in LF and CMR. Massive galaxies exist already 9 Gyr ago and experience an efficient quenching of their star formation at z = 1, followed by a passive evolution with only limited merging activity. In contrast, low-mass galaxies indicate a different mass assembly history and cause a slow build-up of the CMR over cosmic time