45 research outputs found

    Qualidade dos cuidados de enfermagem e satisfação do paciente atendido em um hospital de ensino

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    OBJECTIVES: assess the quality of nursing care, the patients' satisfaction and the correlation between both. METHOD: cross-sectional study, involving 275 patients hospitalized at a teaching hospital in the Central-West of Brazil. The data were collected through the simultaneous application of three instruments. Next, they were included in an electronic database and analyzed in function of the positivity, median value and Spearman's correlation coefficients. RESULTS: among the nursing care assessed, only two were considered safe - hygiene and physical comfort; nutrition and hydration - while the remainder were classified as poor. Nevertheless, the patients were satisfied with the care received in the domains assessed: technical-professional, confidence and educational. This can be justified by the weak to moderate correlation that was observed among these variables. CONCLUSION: Despite the quality deficit, the patients' satisfaction level with the nursing care received was high. These results indicate that the institution needs to center its objectives on a continuing evaluation system of the care quality, aiming to attend to the patients' expectations.OBJETIVOS: evaluar la calidad de los cuidados de enfermería, la satisfacción del paciente y la correlación entre ambos. MÉTODO: estudio trasversal con 275 pacientes internados en un hospital de enseñanza de la región Centro-Oeste de Brasil. Los datos fueron recolectados mediante la aplicación simultánea de tres instrumentos. A seguir, fueron digitalizados en un banco de datos electrónico y analizados en función de la positividad, valor de mediana y coeficientes de correlación de Spearman. RESULTADOS: entre los cuidados de enfermería evaluados, solamente dos fueron considerados seguros - higiene y conforto físico; nutrición e hidratación - y los demás clasificados como pobres. Sin embargo, los pacientes se mostraron satisfechos con los cuidados recibidos en los dominios evaluados: técnico-profesional, confianza y educacional. Eso puede ser justificado por la correlación débil a moderada observada entre esas variables. CONCLUSIÓN: A pesar del déficit de cualidad, fue encontrado alto nivel de satisfacción de los pacientes con los cuidados de enfermería recibidos. Tales resultados indican la necesidad de que la institución centre sus objetivos en un sistema de evaluación permanente de la cualidad del cuidado, visando atender a las expectativas de los pacientes.OBJETIVOS: avaliar a qualidade dos cuidados de enfermagem, a satisfação do paciente e a correlação entre ambos. MÉTODO: estudo transversal, realizado com 275 pacientes internados em um hospital de ensino da Região Centro-Oeste do Brasil. Os dados foram obtidos por meio da aplicação simultânea de três instrumentos. A seguir, foram digitados em banco de dados eletrônico e analisados em função da positividade, valor de mediana e coeficientes de correlação de Spearman. RESULTADOS: dentre os cuidados de enfermagem avaliados, apenas dois foram considerados seguros - higiene e conforto físico; nutrição e hidratação - e os demais foram classificados como pobres. Todavia, os pacientes mostraram-se satisfeitos com os cuidados recebidos nos domínios avaliados: técnico-profissional, confiança e educacional. Isso pode ser justificado pela correlação fraca a moderada observada entre essas variáveis. CONCLUSÃO: apesar do déficit de qualidade, houve alto nível de satisfação dos pacientes com os cuidados de enfermagem recebidos. Tais resultados apontam a necessidade de a instituição centrar seus objetivos num sistema de avaliação permanente da qualidade do cuidado, visando o atendimento das expectativas dos pacientes

    Mutation Accumulation May Be a Minor Force in Shaping Life History Traits

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    Is senescence the adaptive result of tradeoffs between younger and older ages or the nonadaptive burden of deleterious mutations that act at older ages? To shed new light on this unresolved question we combine adaptive and nonadaptive processes in a single model. Our model uses Penna's bit-strings to capture different age-specific mutational patterns. Each pattern represents a genotype and for each genotype we find the life history strategy that maximizes fitness. Genotypes compete with each other and are subject to selection and to new mutations over generations until equilibrium in gene-frequencies is reached. The mutation-selection equilibrium provides information about mutational load and the differential effects of mutations on a life history trait - the optimal age at maturity. We find that mutations accumulate only at ages with negligible impact on fitness and that mutation accumulation has very little effect on the optimal age at maturity. These results suggest that life histories are largely determined by adaptive processes. The non-adaptive process of mutation accumulation seems to be unimportant at evolutionarily relevant ages

    Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry

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    The Rubinstein-Taybi Syndrome (RSTS) is a congenital disease that affects brain development causing severe cognitive deficits. In most cases the disease is associated with dominant mutations in the gene encoding the CREB binding protein (CBP). In this work, we present the first quantitative analysis of brain abnormalities in a mouse model of RSTS using magnetic resonance imaging (MRI) and two novel self-developed automated algorithms for image volumetric analysis. Our results quantitatively confirm key syndromic features observed in RSTS patients, such as reductions in brain size (-16.31%, p < 0.05), white matter volume (-16.00%, p < 0.05), and corpus callosum (-12.40%, p < 0.05). Furthermore, they provide new insight into the developmental origin of the disease. By comparing brain tissues in a region by region basis between cbp(+/-) and cbp(+/+) littermates, we found that cbp haploinsufficiency is specifically associated with significant reductions in prosencephalic tissue, such us in the olfactory bulb and neocortex, whereas regions evolved from the embryonic rhombencephalon were spared. Despite the large volume reductions, the proportion between gray-, white-matter and cerebrospinal fluid were conserved, suggesting a role of CBP in brain size regulation. The commonalities with holoprosencephaly and arhinencephaly conditions suggest the inclusion of RSTS in the family of neuronal migration disorders.We are grateful to Begona Fernandez for her excellent technical assistance. We would like to thank S. Sawiak (Wolfson Imaging Centre, University of Cambridge, Cambridge, United Kingdom) for the mouse brain tissue probability maps and the SPMmouse plug-in, and to N. Kovacevic (Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada) for the atlas of the mouse brain. Supported by grants from the Spanish MINECO to S.C. (BFU 2012-39958) and MINECO and FEDER to D.M. (TEC 2012-33778) and from MINECO (SAF2011-22855) and Generalitat Valenciana (Prometeo/2012/005) to A.B. The Instituto de Neurociencias is "Centre of Excellence Severo Ochoa".Ateca Cabarga, JC.; Cosa, A.; Pallares, V.; Lopez-Atalaya, JP.; Barco, A.; Canals, S.; Moratal Pérez, D. (2015). Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry. Scientific Reports. 5. https://doi.org/10.1038/srep16256S5Rubinstein, J. H. & Taybi, H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child 105, 588–608 (1963).Van Belzen, M., Bartsch, O., Lacombe, D., Peters, D. J. & Hennekam, R. C. Rubinstein-Taybi syndrome (CREBBP, EP300). Eur J Hum Genet. 19, preceeding 118–120 (2011).Hennekam, R. C. Rubinstein-Taybi syndrome. Eur J Hum Genet. 14, 981–985 (2006).Wiley, S., Swayne, S., Rubinstein, J. H., Lanphear, N. E. & Stevens, C. A. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 119A, 101–110 (2003).Michail, J., Matsoukas, J. & Theodorou, S. Pouce bot arqué en forte abduction-extension et autres symptomes concomitants. Rev Chir Orthop 43, 142–146 (1957).Barco A. The Rubinstein-Taybi syndrome: modeling mental impairment in the mouse. Genes Brain Behav 6, 32–39 (2007).Lopez-Atalaya, J. P., Valor, L. M. & Barco, A. Epigenetic factors in intellectual disability: the Rubinstein-Taybi syndrome as a paradigm of neurodevelopmental disorder with epigenetic origin. Prog Mol Biol Transl Sci. 128, 139–176 (2014).Petrij, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., Van Ommen, G. J. B., Goodman, R. H., Peters, D. J. M. & Breuning, M. H. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376, 348–351 (1995).Zimmermann, N., Acosta, A. M., Kohlhase, J. & Bartsch, O. Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. Eur J Hum Genet. 15, 837–842 (2007).Bartholdi, D. et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 44, 327–333 (2007).Roelfsema, J. H. et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 76, 572–580 (2005).Tanaka, Y., Naruse, I., Maekawa, T., Masuya, H., Shiroishi, T. & Ishii, S. Abnormal skeletal patterning in embryos lacking a single Cbp allele: a partial similarity with Rubinstein-Taybi syndrome. Proc Natl Acad Sci USA 94, 10215–10220 (1997).López-Atalaya, J. P. et al. CBP is required for environmental enrichment-induced neurogenesis and cognitive enhancement. EMBO J 30, 4287–4298 (2011).Wang, J. et al. CBP histone acetyltransferase activity regulates embryonic neural differentiation in the normal and Rubinstein-Taybi syndrome brain. Dev Cell. 18, 114–125 (2010).Marzuillo, P. et al. Brain magnetic resonance in the routine management of Rubinstein-Taybi syndrome (RTS) can prevent life-threatening events and neurological deficits. Am J Med Genet A. 164A, 2129–2132 (2014).de Kort, E., Conneman, N. & Diderich, K. A case of Rubinstein-Taybi syndrome and congenital neuroblastoma. Am J Med Genet A. 164A, 1332–1333 (2014).Lee, J. S. et al. Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities. Brain Dev. 37, 402–408 (2015).Marzuillo, P. et al. Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. BMC Med Genet. 14, 28 (2013). 10.1186/1471-2350-14-28.Li, Z. et al. Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature. Gene. 531, 502–505 (2013).Demeer, B. et al. Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype. Eur J Med Genet. 56, 26–31 (2013).Kumar, S., Suthar, R., Panigrahi, I. & Marwaha, R. K. Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature. Indian J Hum Genet. 18, 161–166 (2012).Giussani, C. et al. The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome. Childs Nerv Syst. 28, 2163–2168 (2012).Parsley, L., Bellus, G., Handler, M. & Tsai, A. C. Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx. Am J Med Genet A. 155A, 2766–2770 (2011).Thienpont, B. et al. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 47, 155–161 (2010).Kim, S. H., Lim, B. C., Chae, J. H., Kim, K. J. & Hwang, Y. S. A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation. Korean J Pediatr. 53, 718–721 (2010).Wójcik, C. et al. Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome? Am J Med Genet A. 152A, 479–483 (2010).Wachter-Giner, T., Bieber, I., Warmuth-Metz, M., Bröcker, E. B. & Hamm, H. Multiple pilomatricomas and gliomatosis cerebri--a new association? Pediatr Dermatol. 26, 75–78 (2009).Verstegen, M. J., van den Munckhof, P., Troost, D. & Bouma, G. J. Multiple meningiomas in a patient with Rubinstein-Taybi syndrome. Case report. J Neurosurg. 102, 167–168 (2005).Agarwal, R., Aggarwal, R., Kabra, M. & Deorari, A. K. Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association. Clin Dysmorphol. 11, 223–224 (2002).Ihara, K., Kuromaru, R., Takemoto, M. & Hara, T. Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche. Am J Med Genet. 83, 365–366 (1999).Sener, R. N. Rubinstein-Taybi syndrome: cranial MR imaging findings. Comput Med Imaging Graph 19, 417–418 (1995).Robinson, T. W., Stewart, D. L. & Hersh, J. H. Monozygotic twins concordant for Rubinstein-Taybi syndrome and implications for genetic counseling. Am J Med Genet. 45, 671–673 (1993).Guion-Almeida, M. L. & Richieri-Costa, A. Callosal agenesis, iris coloboma and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. Am J Med Genet. 43, 929–931 (1992).Albanese, A. et al. [Role of diagnostic imaging in Rubinstein-Taybi syndrome. personal experience with 8 cases]. Radiol Med. 81, 253–261 (1991).Rubinstein, J. H. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. Am J Med Genet Suppl. 6, 3–16 (1990).Hennekam, R. C., Stevens, C. A. & Van de Kamp, J. J. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl. 6, 56–64 (1990).Bonioli, E., Bellini, C. & Di Stefano, A. Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome. Am J Med Genet. 33, 420–421 (1989).Beluffi, G., Pazzaglia, U. E., Fiori, P., Pricca, P. & Poznanski, A. K. [Oto-palato-digital syndrome. Clinico-radiological study]. Radiol Med. 74, 176–184 (1987).Cantani, A. & Gagliesi, D. Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits. Eur Rev Med Pharmacol Sci. 2, 81–87 (1998).Viosca, J., Lopez-Atalaya, J. P., Olivares, R., Eckner, R. & Barco, A. Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein-Taybi syndrome etiology. Neurobiol Dis. 37, 186–194 (2010).Martínez-Martínez, M. A., Pacheco-Torres, J., Borrell, V. & Canals, S. Phenotyping the central nervous system of the embryonic mouse by magnetic resonance microscopy. Neuroimage. 97, 95–106 (2014).Heikkinen, T. et al. Characterization of neurophysiological and behavioral changes, MRI brain volumetry and 1H MRS in zQ175 knock-in mouse model of Huntington’s disease. PLoS One. 7, e50717 (2012), 10.1371/journal.pone.0050717.Alarcón, J. M. et al. Chromatin acetylation, memory and LTP are impaired in CBP+/− mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. Neuron. 42, 947–959 (2004).Smith, S. M. et al. Advances in functional and structural MR image analysis and implementation as FSL. Neuroimage 23 Supp 1, S208–19 (2004).Smith, S. M. Fast robust automated brain extraction. Hum Brain Mapp 17, 143–155 (2002).Ashburner, J. & Friston, K. J. Unified segmentation. Neuroimage 26, 839–851 (2005).Sawiak, S. J., Wood, N. I., Williams, G. B., Morton, A. J. & Carpenter, T. A. Voxel-based morphometry in the R6/2 transgenic mouse reveals differences between genotypes not seen with manual 2D morphometry. Neurobiol Dis 33, 20–27 (2009).Kovačević, N. et al. A three-dimensional MRI atlas of the mouse brain with estimates of the average and variability. Cereb Cortex 15, 639–645 (2005).Zacharoff, L. et al. Cortical metabolites as biomarkers in the R6/2 model of Huntington’s disease. J Cereb Blood Flow Metab. 32, 502–514 (2012).Petryk, A., Graf, D. & Marcucio, R. Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes and the phenotypic variability in animal models and humans. Wiley Interdiscip Rev Dev Biol. 4, 17–32 (2015).Solomon, B. D., Gropman, A. & Muenke, M. Holoprosencephaly Overview. In: GeneReviews (eds Pagon, R. A. et al.), Seattle (WA): University of Washington, Seattle; 1993-2014, 2000 Dec 27 [Updated 2013 Aug 29]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1530/ [Date of access: September 4, 2015].Mazzone, D., Milana, A., Praticò, G. & Reitano, G. Rubinstein-Taybi syndrome associated with Dandy-Walker cyst. Case report in a newborn. J Perinat Med. 17, 381–384 (1989).Barson, A. J. Proceedings: Rubinstein-Taybi syndrome. Arch Dis Child. 49, 495 (1974).Tsui, D. et al. CBP regulates the differentiation of interneurons from ventral forebrain neural precursors during murine development. Dev Biol. 385, 230–241 (2014).Ross, M. E. & Walsh, C. A. Human brain malformations and their lessons for neuronal migration. Annu Rev Neurosci. 24, 1041–1070 (2001).Tanaka, T., Ling, B. C., Rubinstein, J. H. & Crone, K. R. Rubinstein-Taybi syndrome in children with tethered spinal cord. J Neurosurg. 105, 261–264 (2006).Dubourg, C. et al. Holoprosencephaly. Orphanet J Rare Dis. 2, 2–8 (2007)
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