Schwannomatosis of the Spinal Accessory Nerve: A Case Report.

Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent. Here, the authors present a rare case of schwannomatosis affecting the left spinal accessory nerve. Upon genetic screening, an in-frame insertion at codon p.R177 of the Sox 10 gene was observed. There were no identifiable alterations in NF1, NF2, LZTR1, and SMARCB1. This case demonstrates a rare clinical presentation of schwannomatosis in addition to a genetic aberration that has not been previously reported in this disease context

In silico identification of opossum cytokine genes suggests the complexity of the marsupial immune system rivals that of eutherian mammals

BACKGROUND: Cytokines are small proteins that regulate immunity in vertebrate species. Marsupial and eutherian mammals last shared a common ancestor more than 180 million years ago, so it is not surprising that attempts to isolate many key marsupial cytokines using traditional laboratory techniques have been unsuccessful. This paucity of molecular data has led some authors to suggest that the marsupial immune system is 'primitive' and not on par with the sophisticated immune system of eutherian (placental) mammals. RESULTS: The sequencing of the first marsupial genome has allowed us to identify highly divergent immune genes. We used gene prediction methods that incorporate the identification of gene location using BLAST, SYNTENY + BLAST and HMMER to identify 23 key marsupial immune genes, including IFN-γ, IL-2, IL-4, IL-6, IL-12 and IL-13, in the genome of the grey short-tailed opossum (Monodelphis domestica). Many of these genes were not predicted in the publicly available automated annotations. CONCLUSION: The power of this approach was demonstrated by the identification of orthologous cytokines between marsupials and eutherians that share only 30% identity at the amino acid level. Furthermore, the presence of key immunological genes suggests that marsupials do indeed possess a sophisticated immune system, whose function may parallel that of eutherian mammals

Strange quarks and lattice QCD

The last few years have seen a dramatic improvement in our knowledge of the strange form factors of the nucleon. With regard to the vector from factors the level of agreement between theory and experiment gives us considerable confidence in our ability to calculate with non-perturbative QCD. The calculation of the strange scalar form factor has moved significantly in the last two years, with the application of new techniques which yield values considerably smaller than believed for the past 20 years. These new values turn out to have important consequences for the detection of neutralinos, a favourite dark matter candidate. Finally, very recent lattice studies have resurrected interest in the famed H-dibaryon, with modern chiral extrapolation of lattice data suggesting that it may be only slightly unbound. We review some of the major sources of uncertainty in that chiral extrapolation.Comment: Invited talk at the Asia-Pacific few Body Conference, Seoul Kore

Predictors of short-term clinical response to cardiac resynchronization therapy

Aims: Cardiac resynchronization therapy (CRT) reduces morbidity and mortality in patients with symptomatic heart failure and QRS prolongation but there is uncertainty about which patient characteristics predict short-term clinical response. Methods and results: In an individual patient meta-analysis of three double-blind, randomized trials, clinical composite score (CCS) at 6 months was compared in patients assigned to CRT programmed on or off. Treatment–covariate interactions were assessed to measure likelihood of improved CCS at 6 months. MIRACLE, MIRACLE ICD, and REVERSE trials contributed data for this analysis (n = 1591). Multivariable modelling identified QRS duration and left ventricular ejection fraction (LVEF) as predictors of CRT clinical response (P < 0.05). The odds ratio for a better CCS at 6 months increased by 3.7% for every 1% decrease in LVEF for patients assigned to CRT-on compared to CRT-off, and was greatest when QRS duration was between 160 and 180 ms. Conclusions: In symptomatic chronic heart failure patients (NYHA class II–IV), longer QRS duration and lower LVEF independently predict early clinical response to CRT

Sub-nanosecond signal propagation in anisotropy engineered nanomagnetic logic chains

Energy efficient nanomagnetic logic (NML) computing architectures propagate and process binary information by relying on dipolar field coupling to reorient closely-spaced nanoscale magnets. Signal propagation in nanomagnet chains of various sizes, shapes, and magnetic orientations has been previously characterized by static magnetic imaging experiments with low-speed adiabatic operation; however the mechanisms which determine the final state and their reproducibility over millions of cycles in high-speed operation (sub-ns time scale) have yet to be experimentally investigated. Monitoring NML operation at its ultimate intrinsic speed reveals features undetectable by conventional static imaging including individual nanomagnetic switching events and systematic error nucleation during signal propagation. Here, we present a new study of NML operation in a high speed regime at fast repetition rates. We perform direct imaging of digital signal propagation in permalloy nanomagnet chains with varying degrees of shape-engineered biaxial anisotropy using full-field magnetic soft x-ray transmission microscopy after applying single nanosecond magnetic field pulses. Further, we use time-resolved magnetic photo-emission electron microscopy to evaluate the sub-nanosecond dipolar coupling signal propagation dynamics in optimized chains with 100 ps time resolution as they are cycled with nanosecond field pulses at a rate of 3 MHz. An intrinsic switching time of 100 ps per magnet is observed. These experiments, and accompanying macro-spin and micromagnetic simulations, reveal the underlying physics of NML architectures repetitively operated on nanosecond timescales and identify relevant engineering parameters to optimize performance and reliability.Comment: Main article (22 pages, 4 figures), Supplementary info (11 pages, 5 sections

UAS Autonomous Hazard Mitigation through Assured Compliance with Conformance Criteria

The behavior of a drone depends on the integrity of the data it uses and the reliability of the avionics systems that process that data to affect the operation of the aircraft. Commercial unmanned aircraft systems frequently rely on commercial-off-the-shelf and open source avionics components and data sources whose reliability and integrity are not easily assured. To mitigate failure events for aircraft that do not comply with conventional aviation safety standards, operational limitations are typically prescribed by regulators. Part 107 of the Federal Aviation Regulations serves as a good example of operational limitations that mitigate risk for small unmanned aircraft systems. These limitations, however, restrict growth possibilities for the industry. Any reasonable path toward achieving routine operation of all types of drones will have to address the need for assurance of avionics systems, especially their software. This paper discusses the possibility of strategically using assured systems as a stepping stone to routine operation of drones. A specimen system for assured geofencing, called Safeguard, is described as an example of such a stepping stone

The metabolism of anabolic-androgenic steroids in the greyhound

BACKGROUND Effective control of the use of anabolic-androgenic steroids (AASs) in animal sports is essential in order to ensure both animal welfare and integrity. In order to better police their use in Australian and New Zealand greyhound racing, thorough metabolic studies have been carried out on a range of registered human and veterinary AASs available in the region. RESULTS Canine metabolic data are presented for the AASs boldenone, danazol, ethylestrenol, mesterolone, methandriol, nandrolone and norethandrolone. The principal Phase I metabolic processes observed were the reduction of A-ring unsaturations and/or 3-ketones with either 3α,5β- or 3β,5α-stereochemistry, the oxidation of secondary 17β-hydroxyl groups and 16α-hydroxylation. The Phase II β-glucuronylation of sterol metabolites was extensive. CONCLUSION The presented data have enabled the effective analysis of AASs and their metabolites in competition greyhound urine samples.Australian Research Council LP077483

Characterization of Retinal Structure in ATF6-Associated Achromatopsia.

PurposeMutations in six genes have been associated with achromatopsia (ACHM): CNGA3, CNGB3, PDE6H, PDE6C, GNAT2, and ATF6. ATF6 is the most recent gene to be identified, though thorough phenotyping of this genetic subtype is lacking. Here, we sought to test the hypothesis that ATF6-associated ACHM is a structurally distinct form of congenital ACHM.MethodsSeven genetically confirmed subjects from five nonconsanguineous families were recruited. Foveal hypoplasia and the integrity of the ellipsoid zone (EZ) band (a.k.a., IS/OS) were graded from optical coherence tomography (OCT) images. Images of the photoreceptor mosaic were acquired using confocal and nonconfocal split-detection adaptive optics scanning light ophthalmoscopy (AOSLO). Parafoveal cone and rod density values were calculated and compared to published normative data as well as data from two subjects harboring CNGA3 or CNGB3 mutations who were recruited for comparative purposes. Additionally, nonconfocal dark-field AOSLO images of the retinal pigment epithelium were obtained, with quantitative analysis performed in one subject with ATF6-ACHM.ResultsFoveal hypoplasia was observed in all subjects with ATF6 mutations. Absence of the EZ band within the foveal region (grade 3) or appearance of a hyporeflective zone (grade 4) was seen in all subjects with ATF6 using OCT. There was no evidence of remnant foveal cone structure using confocal AOSLO, although sporadic cone-like structures were seen in nonconfocal split-detection AOSLO. There was a lack of cone structure in the parafovea, in direct contrast to previous reports.ConclusionsOur data demonstrate a near absence of cone structure in subjects harboring ATF6 mutations. This implicates ATF6 as having a major role in cone development and suggests that at least a subset of subjects with ATF6-ACHM have markedly fewer cellular targets for cone-directed gene therapies than do subjects with CNGA3- or CNGB3-ACHM

Using appreciative inquiry to implement person-centred dementia care in hospital wards

The quality of care of persons with dementia in hospitals is not optimal and can be challenging. Moreover, staff may find difficulty in translating what they have learned during training into practice. This paper report the development and evaluation of a set of workshops using an Appreciative Inquiry (AI) approach to implement person-centred dementia care in two hospital wards. Staff worked collaboratively to develop a ward vision and to implement a number of action plans. Using AI approach, staff attitudes towards persons with dementia improved, inter-professional collaboration was enhanced and small changes in staff practices were noted. Dementia care in hospitals can be enhanced by empowering staff to take small but concrete actions after they engage in AI workshops, during which they are listened to and appreciated for what they can contribute