Genetic services survey-experience of people with rare diseases and their families accessing genetic services in the Irish Republic.

Irish Health Service objectives state that patients with rare diseases should have timely access to genomic diagnostics with appropriate pre and post-test counselling. However, waiting times for clinical genetics outpatient appointments, during the study period, were up to two years as staffing levels remain low. A targeted public online survey was conducted in January 2022 to capture the experiences of Rare Disease families trying to access genetic testing and clinical genetic clinics in the Irish Republic. Irish patients experience significant waiting times to access clinical genetic services and self-report anxiety and stress, related to delayed access to diagnosis, clarity around recurrence risk and follow-up management. This negatively impacts personal decisions around family planning, education and employment and has a significant impact on family members seeking clarity on their own risk. Mainstream genetic testing activity is significant. Families report concern over the competency of health care professionals arranging and delivering genetic results and delays in accessing clinical genetics expertise to take them through the clinical implications. Timely access to clinical genetics expertise is important to ensure families with rare diseases have an appropriate understanding of the medical and reproductive implications of a genetic diagnosis and access to relevant care pathways. A national framework to develop competency in genomic literacy for health-care professionals including a national genetic test directory may be beneficial. Clinical genetics teams require ongoing support and investment to ensure the delivery of a safe and effective service for Irish families with rare diseases.

Designing rare disease care pathways in the Republic of Ireland: a co-operative model.

BACKGROUND: Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals involving a high level of integrated care, service coordination and specified care pathways. METHODS AND OBJECTIVES: This pilot study aimed to explore the best approach for developing national RD care pathways in the Irish healthcare system in the context of a lack of agreed methodology. Irish clinical specialists and patient/lived experience experts were asked to map existing practice against evidence-based clinical practice guidelines (CPGs) and best practice recommendations from the European Reference Networks (ERNs) to develop optimal care pathways. The study focused on the more prevalent, multisystemic rare conditions that require multidisciplinary care, services, supports and therapeutic interventions. RESULTS: 29 rare conditions were selected across 18 ERNs, for care pathway development. Multidisciplinary input from multiple specialisms was relevant for all pathways. A high level of engagement was experienced from clinical leads and patient organisations. CPGs were identified for 26 of the conditions. Nurse specialist, Psychology, Medical Social Work and Database Manager roles were deemed essential for all care pathways. Access to the therapeutic Health Service Professionals: Physiotherapy, Occupational Therapy, and Speech and Language Therapy were seen as key requirements for holistic care. Genetic counselling was highlighted as a core discipline in 27 pathways demonstrating the importance of access to Clinical Genetics services for many people with RDs. CONCLUSIONS: This study proposes a methodology for Irish RD care pathway development, in collaboration with patient/service user advocates. Common RD patient needs and health care professional interventions across all pathways were identified. Key RD stakeholders have endorsed this national care pathway initiative. Future research focused on the implementation of such care pathways is a priority.

A statistical method for identifying different rules of interaction between individuals in moving animal groups.

The emergent patterns of collective motion are thought to arise from application of individual-level rules that govern how individuals adjust their velocity as a function of the relative position and behaviours of their neighbours. Empirical studies have sought to determine such rules of interaction applied by 'average' individuals by aggregating data from multiple individuals across multiple trajectory sets. In reality, some individuals within a group may interact differently from others, and such individual differences can have an effect on overall group movement. However, comparisons of rules of interaction used by individuals in different contexts have been largely qualitative. Here we introduce a set of randomization methods designed to determine statistical differences in the rules of interaction between individuals. We apply these methods to a case study of leaders and followers in pairs of freely exploring eastern mosquitofish (Gambusia holbrooki). We find that each of the randomization methods is reliable in terms of: repeatability of p-values, consistency in identification of significant differences and similarity between distributions of randomization-based test statistics. We observe convergence of the distributions of randomization-based test statistics across repeat calculations, and resolution of any ambiguities regarding significant differences as the number of randomization iterations increases.

The impact of gonad shielding in anteroposterior (AP) pelvis projections in an adult: A phantom study utilising digital radiography (DR).

INTRODUCTION: Positioning relative to the lateral automatic exposure control (AEC) chambers (cranial/caudal orientation) optimises dose and image quality in pelvic radiography. In the cranial orientation introducing gonad shielding (GS) in females may increase radiation dose. The aim of this study was to fully optimise the combination of pelvis orientation and use of GS in both male and females. METHODS: An anthropomorphic pelvis phantom was exposed, with dose area product (DAP) recorded, in both orientations without GS and four conditions with GS: cranial orientation (female/male), caudal orientation (female/male). A 4 cm × 4 cm grid incorporating thirteen positions for the GS resulted in 52 experimental settings. Blind image quality assessment, utilising a modified scale, was undertaken by two experienced observers. RESULTS: Comparing no GS (caudal orientation) to female GS, no significant change in DAP was seen (3.97 v 4.03 dGy*cm2; Mann-Whitney p = 0.060). Comparing no GS (cranial orientation) to male GS no significant change in DAP was seen (8.66 v 8.77 dGy*cm2; Mann-Whitney; p = 0.210). DAP increased significantly with introduction of female GS in the cranial orientation (23%: 8.66 v 10.65 dGy*cm2, Mann-Whitney; p < 0.001) and male GS in the caudal orientation (22.8%: 3.97 v 4.87 dGy*cm2, Mann-Whitney; p < 0.001). Significantly higher repeat rates (Chi-squared test; p < 0.001) were seen for GS in female (85-100%) compared to male (30.8%). CONCLUSION: The use of gonad shielding can increase DAP and lead to repeats being required, with more required for female GS usage, suggesting the utility of GS for pelvis examinations is questionable. IMPLICATIONS FOR PRACTICE: Optimisation of radiation dose in pelvic radiographic examinations utilising AEC terminated exposures requires consideration of AEC chamber position and GS usage.

Posterior wall acetabular fracture fixation: A mechanical analysis of fixation methods.

Stable, anatomical fixation of acetabular fractures gives the best chance of successful outcome, while penetration of the acetabular articular surface with screws is associated with poor outcomes. Spring plates are an alternative to interfragmentary lag screws when penetration is a concern. A mechanical study comparing fracture stability and construct stiffness of three fixation methods for posterior wall acetabular fractures with transverse comminutions was performed. The three fixation methods tested were a posterior wall rim plate, a posterior wall buttress plate with separate lag screws and a posterior wall plate with two spring plates. Nine samples were tested, three for each fixation method. Two-dimensional motion analysis was used to measure fracture fragment displacement and construct stiffness. After two 6000 cycle-loading protocols, to a maximum 1.5 kN, the mean fracture displacement was 0.154 mm for the rim plate model, 0.326 mm for the buttress plate and 0.254 mm for the spring plate model. Mean maximum displacement was significantly less for the rim plate fixation than the buttress plate (p = 0.015) and spring plate fixation (p = 0.02). The rim plate was the stiffest construct 10,962 N/mm, followed by the spring plate model 5637 N/mm and the buttress plate model 4882 N/mm. Based on data obtained in this study, where possible a rim plate with interfragmentary lag screws should be used for isolated posterior wall fractures as this is the stiffest and most stable construct. When this method is not possible, spring plate fixation is a safe and a superior alternative to a posterior buttress plate method.

The use of an anterior pelvic internal fixator to treat disruptions of the anterior pelvic ring: a report of technique, indications and complications.

AIMS: The anterior pelvic internal fixator is increasingly used for the treatment of unstable, or displaced, injuries of the anterior pelvic ring. The evidence for its use, however, is limited. The aim of this paper is to describe the indications for its use, how it is applied and its complications. PATIENTS AND METHODS: We reviewed the case notes and radiographs of 50 patients treated with an anterior pelvic internal fixator between April 2010 and December 2015 at a major trauma centre in the United Kingdom. The median follow-up time was 38 months (interquartile range 24 to 51). RESULTS: Three patients were excluded from the analysis leaving 47 patients with complete follow-up data. Of the 47 patients, 46 achieved radiological union and one progressed to an asymptomatic nonunion. Of the remaining patients, 45 required supplementary posterior fixation with percutaneous iliosacral screws, 2 of which required sacral plating. The incidence of injury to the lateral femoral cutaneous nerve (LFCN) was 34%. The rate of infection was 2%. There were no other significant complications. Without this treatment, 44 patients (94%) would have needed unilateral or bilateral open reduction and plate fixation extending laterally to the hip joint. CONCLUSION: The anterior pelvic internal fixator reduces the need for extensive open surgery and is a useful addition to the armamentarium for the treatment of anterior pelvic injuries. It is associated with injury to the LFCN in a third of patients. Cite this article: Bone Joint J 2017;99-B.1232-6.

Escape path complexity and its context dependency in Pacific blue-eyes (Pseudomugil signifer).

The escape paths prey animals take following a predatory attack appear to be highly unpredictable - a property that has been described as 'protean behaviour'. Here, we present a method of quantifying the escape paths of individual animals using a path complexity approach. When individual fish (Pseudomugil signifer) were attacked, we found that a fish's movement path rapidly increased in complexity following the attack. This path complexity remained elevated (indicating a more unpredictable path) for a sustained period (at least 10 s) after the attack. The complexity of the path was context dependent: paths were more complex when attacks were made closer to the fish, suggesting that these responses are tailored to the perceived level of threat. We separated out the components of speed and turning rate changes to determine which of these components contributed to the overall increase in path complexity following an attack. We found that both speed and turning rate measures contributed similarly to an individual's path complexity in absolute terms. Overall, our work highlights the context-dependent escape responses that animals use to avoid predators, and also provides a method for quantifying the escape paths of animals.

Interactions between Plagiotremus spp., Labroides dimidiatus and their clients: evidence for behavioural niche partitioning.

This study employed community analysis and behavioural field observations to explore the inter-specific interactions between fangblenny species (Plagiotremus spp.), the cleaner wrasse Labroides dimidiatus and their target species and found that the presence of Plagiotremus spp. did not affect the total amount that L. dimidiatus cleaned but it did reduce the amount L. dimidiatus cleaned key prey species of the Plagiotremus spp. The behavioural interactions between adult L. dimidiatus and their clients changed in response to the presence of Plagiotremus spp., but the results suggested the potential cost of Plagiotremus spp. on L. dimidiatus may be offset by behavioural niche partitioning.

Crimson Spotted Rainbowfish (Melanotaenia duboulayi) Change Their Spatial Position according to Nutritional Requirement.

Decision making in moving animal groups has been shown to be disproportionately influenced by individuals at the front of groups. Therefore, an explanation of state-dependent positioning of individuals within animal groups may provide a mechanism for group movement decisions. Nutritional state is dynamic and can differ between members of the same group. It is also known to drive animal movement decisions. Therefore, we assayed 6 groups of 8 rainbowfish foraging in a flow tank. Half of the fish had been starved for 24h and half had been fed 1h prior to experimental start. Groups were assayed again one week later but individuals were allocated to the opposite nutritional treatment. During the assay the positions of individually identified fish were recorded as were the number of food items they each ate and the position within the group they acquired them from. Food-deprived fish were more often found towards the front of the shoal; the mean weighted positional score of food-deprived fish was significantly larger than that of well-fed fish. Individuals were not consistent in their position within a shoal between treatments. There was a significant positive correlation between mean weighted positional score and number of food items acquired which displays an obvious benefit to front positions. These results suggest that positional preferences are based on nutritional state and provide a mechanism for state-dependent influence on group decision-making as well as increasing our understanding of what factors are important for group functioning.

A model comparison reveals dynamic social information drives the movements of humbug damselfish (Dascyllus aruanus).

Animals make use a range of social information to inform their movement decisions. One common movement rule, found across many different species, is that the probability that an individual moves to an area increases with the number of conspecifics there. However, in many cases, it remains unclear what social cues produce this and other similar movement rules. Here, we investigate what cues are used by damselfish (Dascyllus aruanus) when repeatedly crossing back and forth between two coral patches in an experimental arena. We find that an individual's decision to move is best predicted by the recent movements of conspecifics either to or from that individual's current habitat. Rather than actively seeking attachment to a larger group, individuals are instead prioritizing highly local and dynamic information with very limited spatial and temporal ranges. By reanalysing data in which the same species crossed for the first time to a new coral patch, we show that the individuals use static cues in this case. This suggests that these fish alter their information usage according to the structure and familiarity of their environment by using stable information when moving to a novel area and localized dynamic information when moving between familiar areas.

Increased aggression during pregnancy comes at a higher metabolic cost.

Aggressive behaviour is linked to fitness, but it is metabolically costly. Changes in metabolic demand during the reproductive cycle could constrain activity and thereby modulate behavioural phenotypes. We predicted that increased metabolic demands in late pregnancy would lead to reduced aggression and a lower metabolic cost of behaviour in the mosquitofish Gambusia holbrooki. Contrary to our prediction, females became more aggressive in late pregnancy, but metabolic scope (i.e. the metabolic energy available for activity and behaviour) decreased. Consequently, late-stage pregnant females spent significantly more of their available metabolic scope on aggressive behaviour. Hence, as pregnancy progressed, females showed increasingly risky behaviour by depleting metabolic resources available for activities other than fighting. We argue that the metabolic cost of behaviour, and possibly personality, is best expressed with reference to metabolic scope, rather than resting metabolic rates or concentrations of metabolites. This dependence on metabolic scope could render reproductive success sensitive to environmental changes.

The role of individuality in collective group movement.

How different levels of biological organization interact to shape each other's function is a central question in biology. One particularly important topic in this context is how individuals' variation in behaviour shapes group-level characteristics. We investigated how fish that express different locomotory behaviour in an asocial context move collectively when in groups. First, we established that individual fish have characteristic, repeatable locomotion behaviours (i.e. median speeds, variance in speeds and median turning speeds) when tested on their own. When tested in groups of two, four or eight fish, we found individuals partly maintained their asocial median speed and median turning speed preferences, while their variance in speed preference was lost. The strength of this individuality decreased as group size increased, with individuals conforming to the speed of the group, while also decreasing the variability in their own speed. Further, individuals adopted movement characteristics that were dependent on what group size they were in. This study therefore shows the influence of social context on individual behaviour. If the results found here can be generalized across species and contexts, then although individuality is not entirely lost in groups, social conformity and group-size-dependent effects drive how individuals will adjust their behaviour in groups.

The 15° face-changing acetabular component for treatment of osteoarthritis secondary to developmental dysplasia of the hip.

We report the use of a 15° face-changing cementless acetabular component in patients undergoing total hip replacement for osteoarthritis secondary to developmental dysplasia of the hip. The rationale behind its design and the surgical technique used for its implantation are described. It is distinctly different from a standard cementless hemispherical component as it is designed to position the bearing surface at the optimal angle of inclination, that is, < 45°, while maximising the cover of the component by host bone.

Behavioural thermoregulation in two freshwater fish species.

In the presence of a vertical thermal gradient, juvenile three-spined sticklebacks Gasterosteus aculeatus and minnows Phoxinus phoxinus positioned themselves higher in the water column compared with adult conspecifics. This result was consistent regardless of whether age cohorts were tested separately or together. Furthermore, juveniles but not adult fishes positioned themselves higher in water column in the presence of a thermal gradient compared with those in the absence of a thermal gradient. Juvenile G. aculeatus and adult fish of both species did opt to position themselves higher in the water column in the hours immediately following a feeding event relative to their positions in the same gradient when they had not fed.

Bio-conversion rate and optimum harvest intervals for Moina australiensis using digested piggery effluent and Chlorella vulgaris as a food source.

The bio-conversion rate of Moina australiensis fed with Chlorella vulgaris grown on digested piggery effluent at three different feeding rates was determined and a 2, 3 and 4-day harvest interval strategy was investigated. This study indicates that C. vulgaris is a suitable food source for M. australiensis. A significant difference (P < or = 0.001) in the feeding rate against mean total populations was found among treatments. The increase in the amount of algae fed accelerated the production rate, and the population density peaked faster in the high C. vulgaris fed treatment. The BCR calculated from this experiment indicates that for every 1000 mg of C. vulgaris fed there was an increase of 437.9 mg of M. australiensis biomass produced. A significant difference (P < or = 0.001) in biomass production among the different harvest interval treatments was observed. The 2-day harvest interval treatment produced 7.78 g of M. australiensis followed by 6.89 g in the 3 day and 5.01 g in the 4-day harvest interval treatment. This study provides strong evidence that M. australiensis can utilise the bacterial blooms and bio-films associated with digested piggery effluent as a food source.

Survival of ceramic bearings in total hip replacement after high-energy trauma and periprosthetic acetabular fracture.

Surgeons remain concerned that ceramic hip prostheses may fail catastrophically if either the head or the liner is fractured. We report two patients, each with a ceramic-on-ceramic total hip replacement who sustained high-energy trauma sufficient to cause a displaced periprosthetic acetabular fracture in whom the ceramic bearings survived intact. Simultaneous fixation of the acetabular fracture, revision of the cementless acetabular prosthesis and exchange of the ceramic bearings were performed successfully in both patients. Improved methods of manufacture of new types of alumina ceramic with a smaller grain size, and lower porosity, have produced much stronger bearings. Whether patients should be advised to restrict high-impact activities in order to protect these modern ceramic bearings from fracture remains controversial.

The use of LISS femoral locking plates and cabling in the treatment of periprosthetic fractures around stable proximal femoral implants in elderly patients.

A retrospective review was performed of Vancouver type C periprosthetic femoral fractures treated using the Less Invasive Stabilisation System (LISS) femoral locking plate system. Five patients with stable hip prostheses (only one of which was an uncomplicated primary arthroplasty) were treated with the LISS plating system in combination with bone grafting and cables. The average age at the time of fixation was 87 years (range 83-93). All fractures united and all but one of the patients was able to mobilise independently. One case was complicated by superficial wound infection, but there were no other significant complications. One patient is still alive 50 months after surgery; the remaining four died a mean of 27 months postoperatively. Our results indicate that the LISS system is effective in the management of Type C periprosthetic fractures around well-fixed proximal femoral implants in the elderly, even in complex cases.

Determination of pelvic ring stability: a new technique using a composite hemi-pelvis.

Traumatic disruption of the pelvic ring caused by high-energy impact is associated with significant mortality and morbidity. A variety of fixation techniques have been developed for treating these injuries with the main aims of restoring the stability of the pelvic ring and promoting recovery of normal function. The stability of fixation of these techniques is often analysed by cadaveric studies, which can introduce high variability into the results and have small sample numbers. This study presents a new method that uses a composite hemi-pelvis to enable stabilization of the pelvic ring to be accurately determined. The pelvis was loaded cyclically to simulate walking conditions and to assess the stability of the fixation, which was measured using a displacement transducer that monitors the motion of the pelvis in six degrees of freedom. The motions measured showed comparable results with previously published cadaveric studies. This reproducible method of testing with a hemi-pelvis composite model and rig allows valid analysis of pubic symphysis implants, obviating the difficulties of performing a cadaveric study.