Standing Balance Stability and the Effects of Light Touch in Adults With Profound Loss of Vision-An Exploratory Study

Purpose: We evaluated the postural stability of adults with inherited profound vision loss and examined the effects of touch on their balance control. Methods: A total of 11 severely-sight impaired patients (mean [SD] age, 51.6 [5.3] years) and 11 control subjects (mean age, 49.7 [5.3] years) participated. Postural stability was measured using a force-balance platform eyes open/closed on a firm/foam surface under 3 test conditions: no touch, light touch, and unrestricted touch (UT), where "touch" involved placing their index finger on a rigid table. Average magnitude of center of foot pressure displacement was calculated. A somatosensory ratio (SR) was used to evaluate the somatosensory contribution to balance. A repeated measures ANOVA was used to investigate the effects of touch on standing balance. Results: Patients had a significantly increased SR compared to control subjects (mean [SD] SR controls = 1.2 [0.2], patients = 1.9 [0.5]; P < 0.01). There was a significant effect of touch, vision, and surface on balance control ("touch" F = 68.1, P < 0.01; "vision" F = 20.1, P < 0.01; "surface" F = 200.8, P < 0.01). Light touch attenuated sway in patients and controls. The effects were greater in controls when their vision was removed, and greater in patients when their somatosensory system was disrupted. Light touch was as effective as UT in attenuating sway. Conclusions: The results of this exploratory study suggest that patients with severe sight impairment show an increased somatosensory contribution to balance control compared to their normally sighted counterparts. Light touch significantly reduces sway amplitude in severely sight impaired adults when standing on the foam surface, that is, when the somatosensory system is perturbed

‘Sing Every Day’: The wider benefits of a school-based singing project with disadvantaged children

The paper reports on a research evaluation of a six-month specialist singing project ‘Sing Every Day’ that was undertaken with young disadvantaged inner-city 6yo children in the London Borough of Hackney. A team of professional singers from the London-based VOCES8 Foundation visited two classes in each of two Primary schools to provide focused mentoring to generalist (non-music specialist) class teachers. Children from two identically aged classes in a neighbouring school acted as controls. The mentoring embraced a specially designed programme of singing and vocal activities across two school terms. This was undertaken in each classroom with the staff and their Year 1 children numbering N=121 in total. An independent evaluation of the impact of the project included both musical and other-than-musical measures of children’s development. In particular, in addition to an assessment of participant children’s singing behaviours at the start and at end of the project, other assessments included measures of possible changes in children’s reading development and in aspects of Executive Functions. Overall, the implications from the data are that the mentored classroom-based singing activities resulted in significant improvements in children’s singing, as well as positive changes in reading and aspects of Executive Function related to inhibition and phonological working memory – the latter being closely correlated to changes in the same children’s reading scores. Although there is previous research literature reporting positive links separately between music, singing, reading and aspects of Executive Functions, this small-scale study is one of the first to explore these three aspects collectively. As such, the current data suggest that more detailed research would be useful, both in seeking possible replication of the findings with a larger group of participants and also to understand the mechanisms of such possible linkage in terms of both basic research and also its implications for music pedagogy

Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service

In 2013, as part of our genetic investigation of patients with inherited retinal disease, we utilized multigene panel testing of 105 genes known to cause retinal disease in our patient cohorts. This test was performed in a UK National Health Service (NHS) accredited laboratory. The results of all multigene panel tests requested between 1.4.13 and 31.8.14 were retrospectively reviewed. All patients had been previously seen at Moorfields Eye Hospital, London, UK and diagnosed with an inherited retinal dystrophy after clinical examination and detailed retinal imaging. The results were categorized into three groups: (i) Testing helped establish a certain molecular diagnosis in 45 out of 115 (39%). Variants in USH2A (n = 6) and RP1 (n = 4) were most common. (ii) Definitive conclusions could not be drawn from molecular testing alone in 13 out of 115 (11%) as either insufficient pathogenic variants were discovered or those identified were not consistent with the phenotype. (iii) Testing did not identify any pathogenic variants responsible for the phenotype in 57 out of 115 (50%). Multigene panel testing performed in an NHS setting has enabled a molecular diagnosis to be confidently made in 40% of cases. Novel variants accounted for 38% of all identified variants. Detailed retinal phenotyping helped the interpretation of specific variants. Additional care needs to be taken when assessing polymorphisms in genes that have been infrequently associated with disease, as historical techniques were not as rigorous as contemporary ones. Future iterations of sequencing are likely to offer higher sensitivity, testing a broader range of genes, more rapidly and at a reduced cost

OXSR1 inhibits inflammasome activation by limiting potassium efflux during mycobacterial infection.

Pathogenic mycobacteria inhibit inflammasome activation to establish infection. Although it is known that potassium efflux is a trigger for inflammasome activation, the interaction between mycobacterial infection, potassium efflux, and inflammasome activation has not been investigated. Here, we use Mycobacterium marinum infection of zebrafish embryos and Mycobacterium tuberculosis infection of THP-1 cells to demonstrate that pathogenic mycobacteria up-regulate the host WNK signalling pathway kinases SPAK and OXSR1 which control intracellular potassium balance. We show that genetic depletion or inhibition of OXSR1 decreases bacterial burden and intracellular potassium levels. The protective effects of OXSR1 depletion are at least partially mediated by NLRP3 inflammasome activation, caspase-mediated release of IL-1β, and downstream activation of protective TNF-α. The elucidation of this druggable pathway to potentiate inflammasome activation provides a new avenue for the development of host-directed therapies against intracellular infections

Boletín digital Montañeros de Aragón: Epoca IV Número 51 - julio - agosto 2016

A novel layered lead titanate with the approximate composition PbTiO2(CO3)0.3(NO3)0.35(OH) has been synthesized hydrothermally under acidic conditions. The structure has been solved and refined from X-ray and neutron powder diffraction data in the space group P -3 1 m, with cell dimensions a = 5.1787(5) Å and c = 8.5222(7) Å. The titanate layers possess a gibbsite-like structure: lead cations and oxyanions such as carbonate and nitrate are included between the layers. Upon heating the solid loses water, carbon dioxide and nitrogen dioxide and converts via a poorly crystalline intermediate phase to the perovskite PbTiO3. The conversion is complete by 550°C; continued heating results in an increase in crystallinity

A Decidable Multi-agent Logic for Reasoning About Actions, Instruments, and Norms

We formally introduce a novel, yet ubiquitous, category of norms: norms of instrumentality. Norms of this category describe which actions are obligatory, or prohibited, as instruments for certain purposes. We propose the Logic of Agency and Norms (LAN) that enables reasoning about actions, instrumentality, and normative principles in a multi-agent setting. Leveraging LAN , we formalize norms of instrumentality and compare them to two prevalent norm categories: norms to be and norms to do. Last, we pose principles relating the three categories and evaluate their validity vis-à-vis notions of deliberative acting. On a technical note, the logic will be shown decidable via the finite model property

A review of RCTs in four medical journals to assess the use of imputation to overcome missing data in quality of life outcomes

Background: Randomised controlled trials (RCTs) are perceived as the gold-standard method for evaluating healthcare interventions, and increasingly include quality of life (QoL) measures. The observed results are susceptible to bias if a substantial proportion of outcome data are missing. The review aimed to determine whether imputation was used to deal with missing QoL outcomes. Methods: A random selection of 285 RCTs published during 2005/6 in the British Medical Journal, Lancet, New England Journal of Medicine and Journal of American Medical Association were identified. Results: QoL outcomes were reported in 61 (21%) trials. Six (10%) reported having no missing data, 20 (33%) reported ≤ 10% missing, eleven (18%) 11%–20% missing, and eleven (18%) reported >20% missing. Missingness was unclear in 13 (21%). Missing data were imputed in 19 (31%) of the 61 trials. Imputation was part of the primary analysis in 13 trials, but a sensitivity analysis in six. Last value carried forward was used in 12 trials and multiple imputation in two. Following imputation, the most common analysis method was analysis of covariance (10 trials). Conclusion: The majority of studies did not impute missing data and carried out a complete-case analysis. For those studies that did impute missing data, researchers tended to prefer simpler methods of imputation, despite more sophisticated methods being available.The Health Services Research Unit is funded by the Chief Scientist Office of the Scottish Government Health Directorate. Shona Fielding is also currently funded by the Chief Scientist Office on a Research Training Fellowship (CZF/1/31)

A review of RCTs in four medical journals to assess the use of imputation to overcome missing data in quality of life outcomes

Peer reviewedPublisher PD