Signposts to Change by and for the rare disease community

A rare disease is defined as occurring in <1 in 2,000 people, but cumulatively rare diseases are common with one in 17 people in the UK being affected by a rare condition. The problems encountered because of the low number of instances of rare diseases are vast and need solutions. Thus improving communication mechanisms both within and around the healthcare system is of vital importance to individuals living and working with rare diseases.Surveys amongst people affected by and working with a rare disease have been, and will continue to be, carried out to establish what communication for them is like within the healthcare system. The DELPHI model will then be used to identify the priorities for improving communication for people with rare disease in Northern Ireland. From the survey data there were 60 priorities identified which have been grouped under 4 headings: Sources of Information, Medical Care, Rare Disease Community, and Public Awareness.There is a huge amount of progress which needs to be made in order to improve how someone with a rare disease receives information, treatment, and ultimately holistic care to help them deal with the life-changing event of discovering that they have a rare diseas

A case of imported Leishmania infantum cutaneous leishmaniasis; an unusual presentation occurring 19 years after travel

BACKGROUND: Leishmania infantum is a flagellated protozoan parasite that is able to parasitize blood and tissue. Leishmania species cause a spectrum of clinical disease with cutaneous, visceral or mucosal involvement. L. infantum is recognised as a cause of visceral leishmaniasis (VL) and is less commonly reported as a cause of cutaneous leishmaniasis (CL) from countries around the Mediterranean basin. This is the first report of imported L. infantum CL to Australia and is remarkable for a 19 year period between the patient's exposure to an endemic region, and the manifestation of symptoms. CASE PRESENTATION: A 76 year old Italian-born man presented to our institution with a non-healing lesion over his upper lip, abutting his nasal mucosa. The patient had travelled to Italy, an endemic area for L. infantum 19 years earlier but had resided in Australia, a non-endemic area since. Histopathology performed on a biopsy of the lesion demonstrated findings consistent with CL. A species specific polymerase chain reaction (PCR) performed on the tissue detected L. infantum. The patient had complete clinical recovery following treatment with Liposomal amphotericin B at a dose of 3 mg/kg for five days followed by a subsequent 3 mg/kg dose at day ten. CONCLUSIONS: L. infantum should be recognised as a cause of imported CL in returned travellers from the Mediterranean. In this case, the incubation period for L. infantum CL was at least 19 years. This case adds to the described spectrum of clinical presentations of leishmaniasis and supports the theory of parasite persistence underlying natural immunity and recurrence of disease. Clinicians should consider L. infantum CL in the differential diagnosis of a non-healing skin lesion in any patient who reports travel to the Mediterranean, even when travel occurred several years before clinical presentation

Visual Attention and Roadway Landmark Identification in At-Risk Older Drivers,

Driving is a complex task that makes high demands on visual processing capacity. Reduction of visual attention and processing speed are risk factors for car crash involvement in older drivers (Owsley et al, 1991; Ball et al, 1993). Impairment of these visual functions can affect driver safety by impairing the ability to search for information in a cluttered panorama that includes traffic signals and road signs. The purpose of the current study was to examine the extent to which on-road landmark identification during the driving task is predicted by off-road measures of visual attentio

A comparison of protocols for passive and discriminative avoidance learning tasks in the domestic chick

A one-trial learning task where chicks learn that a bead of a particular shape and/or colour has a bitter taste (100% Methyl anthranilate – MeA) and subsequently avoids it on test has been widely used by research groups across the world. However, there are some differences in the results reported by different research laboratories. One important difference is found when chicks are trained on a diluted bitter taste (10 or 20% MeA) such that memory is not consolidated and fades, e.g. memory lasts for 30 min at Monash University versus 4-6 hours at the Open University (OU). Differences in protocol that may explain this apparent discrepancy are whether the chicks have seen the bead before (novelty), and whether the colour or the shape of the bead is a more important feature. In this review, we discuss these and other factors that may contribute to the differences in the characteristics of memory processing between Monash and the OU, e.g. strain, hatchery or laboratory incubated chicks, age at training. It is clear that there is a difference between passive avoidance and discriminative avoidance and this may explain the differences in duration of the memory and the different stages. Is the OU task a more salient experience because of the novelty of the bead and therefore a 'stronger' learning experience? The different protocols may allow different questions to be addressed

Burkholderia Pseudomallei Osteomyelitis

A 52-year-old diabetic man presented to the Emergency Department with a history of fevers and pain in his right thigh. He had recently returned from a 10-month trip to Vietnam. A suspected bacterial abscess in the right thigh did not respond to empirical antibiotics. Subsequent investigations revealed melioidotic osteomyelitis of the femur. This case emphasises the need to consider the diagnosis of melioidosis in patients presenting with fever following travel in endemic areas

Reviews

Lilith in a New Light: Essays on the George Macdonald Fantasy Novel. Ed. Lucas H. Harriman. Reviewed by William Gray. Black & White Ogre Country: The Lost Tales of Hilary Tolkien. Edited by Angela Gardner. Illustrated by Jef Murray. Reviewed by Glen GoodKnight. C.S. Lewis and the Search for Rational Religion. John Beversluis. Reviewed by Donald T. Williams. Faith and Choice in the Works of Joss Whedon. K.. Dale Koontz. Reviewed by Amy H. Sturgis. Fritz Leiber, Critical Essays. Ed. Benjamin Szumskyj. Reviewed by Darrell Schweitzer. Myth and Magic: Art according to the Inklings. Eduardo Segura and Thomas Honegger. Reviewed by Jason Fisher. From Narnia to a Space Odyssey: The War of Ideas between Arthur C. Clarke And C. S. Lewis. Ed., and with introduction, by Ryder W. Miller. Reviewed by Joe R. Christopher. The Mirror Crack\u27d: Fear and Horror in JRR Tolkien\u27s Major Works. Ed. Lynn Forest-Hill. Reviewed by Edith L. Crowe. Arda Reconstructed: The Creation of the Published Silmarillion. Douglas Charles Kane. Reviewed by Jason Fisher. Night Operation. Owen Barfield. Reviewed by David Bratman. Eager Spring. Owen Barfield. Reviewed by David Bratman

Replicating natural topography on marine artificial structures:A novel approach to eco-engineering

Ocean sprawl is a growing threat to marine and coastal ecosystems globally, with wide-ranging consequences for natural habitats and species. Artificial structures built in the marine environment often support less diverse communities than natural rocky marine habitats because of low topographic complexity. Some structures can be eco-engineered to increase their complexity and promote biodiversity. Tried-and-tested eco-engineering approaches include building-in habitat designs to mimic features of natural reef topography that are important for biodiversity. Most designs mimic discrete microhabitat features like crevices or holes and are geometrically-simplified. Here we propose that directly replicating the full fingerprint of natural reef topography in habitat designs makes a novel addition to the growing toolkit of eco-engineering options. We developed a five-step process for designing natural topography-based eco-engineering interventions for marine artificial structures. Given that topography is highly spatially variable in rocky reef habitats, our targeted approach seeks to identify and replicate the ‘best’ types of reef topography to satisfy specific eco-engineering objectives. We demonstrate and evaluate the process by designing three natural topography-based habitat units for intertidal structures, each targeting one of three hypothetical eco-engineering objectives. The process described can be adapted and applied according to user-specific priorities. Expanding the toolkit for eco-engineering marine structures is crucial to enable ecologically-informed designs that maximise biodiversity benefits from burgeoning ocean sprawl

Artificial shorelines lack natural structural complexity across scales

From microbes to humans, habitat structural complexity plays a direct role in the provision of physical living space and increased complexity supports higher biodiversity and ecosystem functioning across biomes. Natural coastlines are structurally complex transition zones between land and sea that support diverse ecological communities but are under increasing pressure from human activity. Coastal development and the construction of artificial shorelines are changing our landscape and altering biodiversity patterns as humans seek both socio-economic benefits and protection from coastal storms, flooding, and erosion. In this study, we evaluate how much structural complexity is missing, and at which scales, with the creation of artificial structures compared to naturally occurring rocky shores. We quantified the structural complexity of both artificial and natural shores at resolutions from 1 mm through to 10s of m using three remote sensing platforms (handheld camera, terrestrial laser scanner and uncrewed aerial vehicles) across both artificial and natural shorelines. Natural shorelines were approximately 20-50 % more structurally complex and offered greater structural variation between locations. In contrast, artificial shorelines were more structurally homogenous and typically deficient in structural complexity across scales. Our findings reinforce concerns that replacing natural rocky shorelines with artificial structures simplifies coastlines at organism-relevant scales. Furthermore, we offer much-needed insight into how structures might be modified to more closely capture the complexity of natural shorelines that support biodiversity

Accuracy of PECARN, CATCH, and CHALICE head injury decision rules in children: a prospective cohort study

© 2017 Elsevier Ltd Background Clinical decision rules can help to determine the need for CT imaging in children with head injuries. We aimed to validate three clinical decision rules (PECARN, CATCH, and CHALICE) in a large sample of children. Methods In this prospective observational study, we included children and adolescents (age

Establishing a core outcome set for peritoneal dialysis : report of the SONG-PD (standardized outcomes in nephrology-peritoneal dialysis) consensus workshop

Outcomes reported in randomized controlled trials in peritoneal dialysis (PD) are diverse, are measured inconsistently, and may not be important to patients, families, and clinicians. The Standardized Outcomes in Nephrology-Peritoneal Dialysis (SONG-PD) initiative aims to establish a core outcome set for trials in PD based on the shared priorities of all stakeholders. We convened an international SONG-PD stakeholder consensus workshop in May 2018 in Vancouver, Canada. Nineteen patients/caregivers and 51 health professionals attended. Participants discussed core outcome domains and implementation in trials in PD. Four themes relating to the formation of core outcome domains were identified: life participation as a main goal of PD, impact of fatigue, empowerment for preparation and planning, and separation of contributing factors from core factors. Considerations for implementation were identified: standardizing patient-reported outcomes, requiring a validated and feasible measure, simplicity of binary outcomes, responsiveness to interventions, and using positive terminology. All stakeholders supported inclusion of PD-related infection, cardiovascular disease, mortality, technique survival, and life participation as the core outcome domains for PD