'Just Little Things': Nurses' perceptions of quality of life for people with severe multiple impairments.

ABSTRACT Notions of quality of life dictate philosophies and policies for services for people with developmental disabilities. There is an abundance of research on quality of life, much of which has influenced the significant amount of study of quality of life for people with developmental disabilities. According to specialist developmental disability nurses, however, this research has little meaning for one group of people with developmental disabilities with whom they work - people with severe multiple impairments. Nevertheless, judgements and decisions about the lives of this group continue to be driven by the idea of quality of life. While the literature review found that researchers are urged to seek the perceptions of people regarding their own quality of life by asking them, some authors have noted the difficulty in pursuing such a method with people, such as people with severe multiple impairments, who are unable to communicate in the usual ways. Given, then, that it is difficult to directly determine the views of people with severe multiple impairments, this study sought the perceptions of nurses about the quality of life of the people with whom they work. In order to discover and conceptualise nurses' views, a symbolic interaction perspective was chosen to guide this study and data were analysed using the grounded theory approach. The study was conducted in two stages. Stage One consisted of semi-structured indepth interviews with expert nurses to explore their perceptions of quality of life for the people with whom they worked. A significant finding in these interviews was that perceptions of quality of life are mediated by interaction. Consequently, Stage Two involved a participant observation study in which the interactions of nurses and people with severe multiple impairments were examined. Specialist developmental disability nurses have a unique view of quality of life for people with severe multiple impairments. They refer to it as 'just little things', a phrase which masks complex nursing knowledge and skills, and which can be described by four interrelated categories which emerged from the data: humans being, supporting, becoming intimate, and situated belonging. As nurses become more intimate with individuals, they perceive that people with severe multiple impairments are humans being as they wish, and that quality resides in supporting their everyday lives in a context of situated belonging. This thesis represents a new conceptualisation of quality of life for people with severe multiple impairments, a conceptualisation which may have significance for other groups and, indeed, for the whole quality of life enterprise. This conceptualisation draws on knowledge not usually related to quality of life, that is, knowledge of the body, of the emotions, of identity and of humanness. Such findings demonstrate the power of an interpretive approach in explicating the meanings nurses have regarding quality of life. Further, these findings have implications for how the question of quality of life is approached, for how different ways of thinking about people impact on quality of life, and for the importance of the life in quality of life

Evaluation of Cardiac Autonomic Modulation Using Symbolic Dynamics after Cardiac Transplantation

Objective: To characterize the behavior of cardiac autonomic modulation in individuals with different times after orthotopic heart transplantation (HTx) using symbolic dynamics analysis. Methods: Sixty patients were evaluated after HTx. We recorded their instantaneous R-R intervals (RRi) by cardiac monitor Polar (R) RS800CX (TM) (Polar Electro Oy, Kempele, Finland) for 10 minutes. The same sequence of RRi with 256 consecutive beats was used to perform spectral analysis and symbolic dynamics analysis. We used hierarchical clustering to form groups. One-way analysis of variance (ANOVA) (with Holm-Sidak method) or one-way Kruskal-Wallis test (with Dunn's post-hoc test) was used to analyze the difference between groups. Linear correlation analysis between variables was performed using Pearson's or Spearman's tests. P-value < 0.05 was considered statistically significant. Results: The 0V% index increased, the 2UV% index and the normalized complexity index decreased with an increase of HTx postoperative time. There were a negative correlation between complexity indexes and 0V% and a positive correlation between complexity indexes and 2UV%. Conclusion: Symbolic dynamics indexes were able to show a specific cardiac autonomic modulation pattern for HTx recipients with different postoperative times

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: A prospective observational study

Background: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive neurodegenerative disease caused by mutations in either the NPC1 or NPC2 genes. The diagnosis of NP-C remains challenging due to the non-specific, heterogeneous nature of signs/symptoms. This study assessed the utility of plasma chitotriosidase (ChT) and Chemokine (C-C motif) ligand 18 (CCL18)/pulmonary and activation-regulated chemokine (PARC) in conjunction with the NP-C suspicion index (NP-C SI) for guiding confirmatory laboratory testing in patients with suspected NP-C. Methods: In a prospective observational cohort study, incorporating a retrospective determination of NP-C SI scores, two different diagnostic approaches were applied in two separate groups of unrelated patients from 51 Spanish medical centers (n = 118 in both groups). From Jan 2010 to Apr 2012 (Period 1), patients with =2 clinical signs/symptoms of NP-C were considered ''suspected NP-C'' cases, and NPC1/NPC2 sequencing, plasma chitotriosidase (ChT), CCL18/PARC and sphingomyelinase levels were assessed. Based on findings in Period 1, plasma ChT and CCL18/PARC, and NP-C SI prediction scores were determined in a second group of patients between May 2012 and Apr 2014 (Period 2), and NPC1 and NPC2 were sequenced only in those with elevated ChT and/or elevated CCL18/PARC and/or NP-C SI =70. Filipin staining and 7-ketocholesterol (7-KC) measurements were performed in all patients with NP-C gene mutations, where possible. Results: In total across Periods 1 and 2, 10/236 (4%) patients had a confirmed diagnosis o NP-C based on gene sequencing (5/118 4.2%] in each Period): all of these patients had two causal NPC1 mutations. Single mutant NPC1 alleles were detected in 8/236 (3%) patients, overall. Positive filipin staining results comprised three classical and five variant biochemical phenotypes. No NPC2 mutations were detected. All patients with NPC1 mutations had high ChT activity, high CCL18/PARC concentrations and/or NP-C SI scores =70. Plasma 7-KC was higher than control cut-off values in all patients with two NPC1 mutations, and in the majority of patients with single mutations. Family studies identified three further NP-C patients. Conclusion: This approach may be very useful for laboratories that do not have mass spectrometry facilities and therefore, they cannot use other NP-C biomarkers for diagnosis