Shear wave propagation in a liquid crystal: An inelastic X-ray scattering study.

We investigated the spectrum of density fluctuations of a liquid crystal, CB7CB, in two different orientations by using high-resolution inelastic x-ray scattering. Our analysis, based on Bayesian principles, revealed that high-frequency collective excitations propagate through this mesoscale-ordered sample in a peculiar manner that lies somewhere between those observed in liquids and crystalline systems. Interestingly, when we probed longer length scales, a more pronounced solid-like response emerged. This was mainly characterized by anomalously sharp inelastic excitations and the onset of shear mode propagation. Comparison with previous x-ray diffraction results suggests a correlation between the observed behavior and the mesogen arrangement.

Real-world data capture of daily limb loading using force-sensing insoles: Feasibility and lessons learned.

Force-sensing insoles are wearable technology that offer an innovative way to measure loading outside of laboratory settings. Few studies, however, have utilized insoles to measure daily loading in real-world settings. This is an ancillary study of a randomized controlled trial examining the effect of weight loss alone, weight loss plus weighted vest, or weight loss plus resistance training on bone health in older adults. The purpose of this ancillary study was to determine the feasibility of using force-sensing insoles to collect daily limb loading metrics, including peak force, impulse, and loading rate. Forty-four participants completed a baseline visit of three, 2-minute walking trials while wearing force-sensing insoles. During month two of the intervention, 37 participants wore insoles for 4 days for 8 waking hours each day. At 6-month follow-up, participants completed three, two-minute walking trials and a satisfaction questionnaire. Criteria for success in feasibility was defined as: a) > 60 % recruitment rate; b) > 80 % adherence rate; c) > 75 % of usable data, and d) > 75 % participant satisfaction. A 77.3 % recruitment rate was achieved, with 44 participants enrolled. Participants wore their insoles an average of 7.4 hours per day, and insoles recorded an average of 5.5 hours per day. Peak force, impulse, and loading rate collected at baseline and follow-up were 100 % usable. During the real-world settings, 87.8 % of data was deemed usable with an average of 1200 min/participant. Lastly, average satisfaction was 80.5 %. These results suggest that force-sensing insoles appears to be feasible to capture real-world limb loading in older adults.

A further case of chondrodysplasia with growth failure occurring after hematopoietic stem cell transplantation (HSCT).

There is an emerging body of evidence showing that young patients, post haematopoietic stem cell transplantation (HSCT), can develop skeletal changes that mimic an osteochondrodysplasia process. The key discriminator is that these children have had otherwise normal growth and skeletal development before the therapeutic intervention (HSCT), typically for a haematological malignancy. Herein we present that case of a boy who underwent HSCT for Haemophagocytic Lymphohistiocytosis (HLH) aged 2 years. Following Intervention with HSCT this boy's growth has severely decelerated (stature less than 1st centile matched for age) and he has developed a spondyloepiphyseal dysplasia.

Fingerprints of hydrogen bonding in the terahertz dynamics of ethanol and water: An inelastic x-ray scattering study.

We used inelastic x-ray scattering methods to measure the terahertz spectrum of density fluctuations of ethanol in both liquid and solid phases. The results of a Bayesian inference-based lineshape analysis with a multiple excitation model and the comparison with a previous similar analysis on water indicate that the different structures induced by hydrogen bonds in ethanol and water have a profound influence on the respective dynamic responses, the latter being characterized by longer living and better resolved high-frequency acoustic excitations. In addition, we compare these findings with those obtained with an alternative approach based on the exponential expansion theory and ensuring sum rules fulfillment, demonstrating that the model's choice directly impacts the number of spectral modes detected.

Application of the D3 -creatine muscle mass assessment tool to a geriatric weight loss trial: A pilot study.

BACKGROUND: Traditionally, weight loss (WL) trials utilize dual energy X-ray absorptiometry (DXA) to measure lean mass. This method assumes lean mass, as the sum of all non-bone and non-fat tissue, is a reasonable proxy for muscle mass. In contrast, the D3 -creatine (D3 Cr) dilution method directly measures whole body skeletal muscle mass, although this method has yet to be applied in the context of a geriatric WL trial. The purpose of this project was to (1) describe estimates of change and variability in D3 Cr muscle mass in older adults participating in an intentional WL intervention and (2) relate its change to other measures of body composition as well as muscle function and strength. METHODS: The INVEST in Bone Health trial (NCT04076618), used as a scaffold for this ancillary pilot project, is a three-armed, 12-month randomized, controlled trial designed to determine the effects of resistance training or weighted vest use during intentional WL on a battery of musculoskeletal health outcomes among 150 older adults living with obesity. A convenience sample of 24 participants (n = 8/arm) are included in this analysis. At baseline and 6 months, participants were weighed, ingested a 30 mg D3 Cr tracer dose, provided a fasted urine sample 3-6 days post-dosage, underwent DXA (total body fat and lean masses, appendicular lean mass) and computed tomography (mid-thigh and trunk muscle/intermuscular fat areas) scans, and performed 400-m walk, stair climb, knee extensor strength, and grip strength tests. RESULTS: Participants were older (68.0 ± 4.4 years), mostly White (75.0%), predominantly female (66.7%), and living with obesity (body mass index: 33.8 ± 2.7 kg/m2 ). Six month total body WL was -10.3 (95% confidence interval, CI: -12.7, -7.9) kg. All DXA and computed tomography-derived body composition measures were significantly decreased from baseline, yet D3 Cr muscle mass did not change [+0.5 (95% CI: -2.0, 3.0) kg]. Of muscle function and strength measures, only grip strength significantly changed [+2.5 (95% CI: 1.0, 4.0) kg] from baseline. CONCLUSIONS: Among 24 older adults, significant WL with or without weighted vest use or resistance training over a 6-month period was associated with significant declines in all bioimaging metrics, while D3 Cr muscle mass and muscle function and strength were preserved. Treatment assignment for the trial remains blinded; therefore, full interpretation of these findings is limited. Future work in this area will assess change in D3 Cr muscle mass by parent trial treatment group assignment in all study participants.

Body metrics are associated with clinical, free-living, and self-report measures of mobility in a cohort of adults with obesity and multiple sclerosis.

BACKGROUND: Obesity is associated with multiple sclerosis (MS) onset and may contribute to more rapid disability accumulation. Whether obesity impacts mobility in MS is uncertain. Some studies find that obesity in MS is associated with poorer mobility; other studies find no relationship. Discrepant findings may be due to differences in measurement and methodology. In the present study, we employ a comprehensive battery of anthropometric and mobility measures in a sample of people with MS and obesity. METHODS: Participants with MS (N = 74) completed a battery of adiposity measurements (weight, height, waist circumference, and full body dual-energy x-ray absorptiometry [DXA] scans). They also completed validated clinical, free-living (accelerometry), and self-report measures of mobility. Spearman's Rho correlations were used to examine the associations between mobility and obesity measures with Benjamini and Hochberg correction for multiple comparisons. Multiple linear regression was used to examine if adiposity predicted mobility outcomes in people with MS when controlling for age and disease duration. RESULTS: The majority of participants (n = 70) were diagnosed with relapsing-remitting MS and reported mild MS-related disability on the Patient Determined Disease Steps (M = 0.77, SD = 1.1). Median BMI was 35.8 (SD = 5.4). Higher percentage body fat (measured via DXA) was associated with poorer self-reported physical functioning (rs = -0.52, p <0.001), less moderate-to-vigorous physical activity (rs = -0.24, p = 0.04), and worse performance on the Six Minute Walk Test (6MWT; rs = -0.44, p <0.001), the Timed 25 Foot Walk (T25FW; rs = 0.45, p <0.001), and the Timed Up and Go test (TUG; rs = 0.35, p = .003). Higher BMI and waist-to-height ratio (WtHR) were associated with worse outcomes on the 6MWT (BMI; rs = -0.35, p <0.01, WtHR; rs = -0.43, p <0.001), T25FW (BMI; rs = 0.32, p <0.01, WtHR; rs = 0.38, p <0.001), and the SF-36 (BMI; rs = -0.29, p <0.005, WtHR; rs = -0.31, p <0.05). Percentage body fat accounted for an additional 17 % of the variance in the T25FW and 6MWT performance, after controlling for age and disease duration. CONCLUSION: Higher BMI, WtHR, and percentage body fat were associated with lower levels of mobility (T25FW and 6MWT) in people with MS who have class I, class II, and class III obesity. Higher percentage body fat was associated with significantly worse performance on clinical, free-living, and self-report measures of mobility in people with MS even when accounting for participant age and disease duration. These findings suggest that people with MS and obesity may show improved mobility with weight loss.

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.

Strategies to reduce the onset of sleeve gastrectomy associated bone loss (STRONG BONES): Trial design and methods.

Background: Despite recognized improvements in obesity-related comorbidities, mounting evidence implicates surgical weight loss in the onset of skeletal fragility. Sleeve gastrectomy (SG) is the most commonly performed bariatric procedure and is associated with 3-7% axial bone loss in the year following surgery. Bisphosphonates are FDA-approved medications for the prevention and treatment of age-related bone loss and may represent a strategy to reduce bone loss following SG surgery. Methods: The Strategies to Reduce the Onset of Sleeve Gastrectomy Associated Bone Loss (STRONG BONES) trial (NCT04922333) is designed to definitively test whether monthly administration of the bisphosphonate, risedronate, for six months can effectively counter SG-associated bone loss. Approximately 120 middle-aged and older (≥40 years) SG patients will be randomized to six months of risedronate or placebo treatment, with skeletal outcomes assessed at baseline, six, and 12-months post-surgery. The primary outcome of the trial is 12-month change in total hip areal bone mineral density (aBMD), measured by dual energy x-ray absorptiometry (DXA). This will be complemented by DXA-acquired aBMD assessment at other skeletal sites and quantitative computed tomography (QCT) derived changes in bone quality. Change in muscle mass and function will also be assessed, as well as biomarkers of bone health, turnover, and crosstalk, providing mechanistic insight into intervention-related changes to the bone-muscle unit. Discussion: Results from the STRONG BONES trial have the potential to influence current clinical practice by determining the ability of bisphosphonate use to mitigate bone loss and concomitant fracture risk in middle-aged and older SG patients.

Preclinical validation of the advection diffusion flow estimation method using computational patient specific coronary tree phantoms.

Coronary computed tomography angiography (CCTA) does not allow the quantification of reduced blood flow due to coronary artery disease (CAD). In response, numerical methods based on the CCTA image have been developed to compute coronary blood flow and assess the impact of disease. However to compute blood flow in the coronary arteries, numerical methods require specification of boundary conditions that are difficult to estimate accurately in a patient-specific manner. We describe herein a new noninvasive flow estimation method, called Advection Diffusion Flow Estimation (ADFE), to compute coronary artery flow from CCTA to use as boundary conditions for numerical models of coronary blood flow. ADFE uses image contrast variation along the tree-like structure to estimate flow in each vessel. For validating this method we used patient specific software phantoms on which the transport of contrast was simulated. This controlled validation setting enables a direct comparison between estimated flow and actual flow and a detailed investigation of factors affecting accuracy. A total of 10 CCTA image data sets were processed to extract all necessary information for simulating contrast transport. A spectral element method solver was used for computing the ground truth simulations with high accuracy. On this data set, the ADFE method showed a high correlation coefficient of 0.998 between estimated flow and the ground truth flow together with an average relative error of only 1 % . Comparing the ADFE method with the best method currently available (TAFE) for image-based blood flow estimation, which showed a correlation coefficient of 0.752 and average error of 20 % , it can be concluded that the ADFE method has the potential to significantly improve the quantification of coronary artery blood flow derived from contrast gradients in CCTA images.

Characterizing thoracic morphology variation to develop representative 3D models for applications in chest trauma.

BACKGROUND: Rib fracture(s) occurs in 85% of blunt chest trauma cases. Increasing evidence supports that surgical intervention, particularly for multiple fractures, may improve outcomes. Thoracic morphology diversity across ages and sexes is important to consider in the design and use of surgical intervention devices in chest trauma. However, research on non-average thoracic morphology is lacking. METHODS: The rib cage was segmented from patient computed tomography (CT) scans to create 3D point clouds. These point clouds were uniformly oriented and chest height, width, and depth were measured. Size categorization was determined by grouping each dimension into small, medium, and large tertiles. From small and large size combinations, subgroups were extracted to develop thoracic 3D models of the rib cage and surrounding soft tissue. RESULTS: The study population included 141 subjects (48% male) ranging from age 10-80 with ∼20 subjects/age decade. Mean chest volume increased with age by 26% from the age groups 10-20 to 60-70, with 11% of this increase occurring between the youngest groups of 10-20 and 20-30. Across all ages, chest dimensions were ∼10% smaller in females and chest volume was highly variable (SD: ±3936.5 cm3). Representative thoracic models of four males (ages 16, 24, 44, 48) and three females (ages 19, 50, 53) were developed to characterize morphology associated with combinations of small and large chest dimensions. CONCLUSIONS: The seven models developed cover a broad range of non-average thoracic morphologies and can serve as a basis for informing device design, surgical planning, and injury risk assessments.

Ice phonon spectra and Bayes inference: A gateway to a new understanding of terahertz sound propagation in water.

Understanding how molecules engage in collective motions in a liquid where a network of bonds exists has both fundamental and applied relevance. On the one hand, it can elucidate the "ordering" role of long-range correlations and inspire new avenues to control such order to implement sound manipulation. Water represents an ideal investigation case to unfold these general aspects, and, across the decades, it has been the focus of thorough scrutiny. Despite this investigative effort, the spectrum of terahertz density fluctuations of water largely remains a puzzle for condensed matter physicists. To unravel it, we compare previous scattering measurements of water spectra with new ones on ice. Owing to the unique asset of Bayesian inference, we draw a more detailed portrayal of the phonon response of ice. The comparison with the one of liquid water challenges the current understanding of density fluctuations in water, or more in general, of any networked liquid.

General Practitioner referrals to Child and Adolescent Mental Health Services: Did they differ during Covid-19?

OBJECTIVES: The COVID pandemic has been associated with poorer mental health in youth. This study aimed to evaluate any change in General Practitioner (GP) referral pattern to Child and Adolescent Mental Health (CAMH) services during the first 10 months of Covid-19 and compare with a similar time frame in 2019. METHODS: All accepted referrals to a CAMH Service in Dublin during the study time frame were reviewed. Referral letters were batch anonymised and clinical data extracted using a study specific proforma for analysis. RESULTS: Referral numbers between the two time periods did not statistically differ. Proportionally more females were referred during the pandemic, increasing to 56.9%, n = 99, compared to 43.1%, n = 75 in 2019 (p = 0.01). Referrals were more often designated by the clinician as urgent during the pandemic (61.3%, n = 98) than before (39%, n = 62, p < 0.001). Referrals outlining self-harm or suicidal ideation increased significantly, from 42.1% (n = 67) to 55.9% (n = 90) (p = 0.014). Referrals for externalising problems fell from 2019 rates; ADHD (21.4%, n = 34 vs 11.1%, n = 18; p = 0.013), ASD (26.4%, n = 42 vs 16.1%, n = 26; p = 0.038) and conduct problems (23.3%, n = 37 vs 7.4%, n = 12; p < 0.001). Although numbers for psychosis in 2019 were low (10.7%, n = 17), these also fell significantly in 2020 (2.5%, n = 4; p < 0.001). DISCUSSION: The finding of reduced referrals for ADHD and ASD has not previously been reported. With concerns regarding educational loss linked to online learning, it is crucial that these youth are not doubly disadvantaged by delayed referral and education decline.

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population.

The Irish Traveller population are an endogamous, traditionally nomadic, Irish population. Irish Travellers practice consanguinity in the majority of marriages, thus resulting in a higher rate of rare autosomal recessive conditions within the population due to homozygous variants. Herein, we outline the clinical phenotypes associated with metabolic conditions seen in this population presenting in the neonatal period, infancy and childhood. Although Irish Travellers are traditionally based in Ireland and the UK, there are populations also living in mainland Europe and the USA. While there is generally an understanding amongst Irish paediatricians of the recessive conditions seen with this population in Ireland, they may be less commonly encountered abroad. It is important to consider a non-genetic aetiology alongside any consideration for a metabolic disorder. CONCLUSION: This paper acts as a comprehensive review of the metabolic conditions seen and provides a guide for the investigation of an Irish Traveller child with a suspected metabolic condition. WHAT IS KNOWN: • The Irish Traveller population are an endogenous population. • There are higher rates of inherited metabolic conditions in this population compared to the general population in Ireland. WHAT IS NEW: • This paper is a comprehensive review of all known inherited metabolic conditions encountered in the Irish Traveller population.

Prevalence of mental health disorders in children and adolescents in the Republic of Ireland: a systematic review.

Referrals to Child and Adolescent Mental Health Services (CAMHS) have increased in recent years. Services are already under-resourced and the adverse psychological impact of Covid-19 is likely to increase demand. Accordingly, an understanding of prevalence of mental health (MH) disorders among youth is imperative to help inform and plan services. AIM: To establish prevalence of MH disorders among youth (under 18) in Ireland. METHOD: A systematic review using pre-defined search terms in PubMed, PsycInfo, Embase and CINAHL was conducted. Empirical studies conducted in Ireland, in youth and focusing on MH disorders were included. RESULTS: From a total of 830 papers identified, 38 papers met inclusion criteria. Significant variation in rates of MH disorders was evident based on study methodology. Screening questionnaires for general psychopathology reported rates of 4.8-17.8% scoring above clinical cut-offs, with higher rates for ADHD (7.3%). Studies examining depression ranged from 4% to 20.8%, while rates for 'current' MH disorder, determined by semi-structured interview, were 15.5%, while 'lifetime' rates varied from 19.9% to 31.2%. Fewer than half (44%) of those identified as 'in need' of specialist MH services were accessing CAMHS. CONCLUSION: Data on MH disorders among Irish youth is limited, and studies showed significant variance in rates, making service planning difficult. There is an urgent need for serial epidemiological surveys, with clear operational criteria for clinically impairing MH difficulties. Such studies are essential to understand potential demand and service planning. This is most urgent given the expected increased demand post Covid-19.

Breeding stage impacts on chronic stress and physiological condition in northern gannets (Morus bassanus).

Physiological condition can affect survival and reproductive success in seabirds. However, seabirds rarely show outward signs of poor physiological condition, making it difficult to identify and address issues before they result in population level impacts. We investigate physiological condition of breeding northern gannets (Morus bassanus) between years and nesting stages. Blood smears were used to quantify blood cell profiles indicative of chronic stress, infection, disease, and immunocompetence. No blood parasites were observed, but elevated Heterophil to Lymphocyte (H:L) ratios, eosinophils, and monocytes suggest higher prevalence of infection in some years. Chronic stress levels, indicated by high H:L ratio, were elevated in incubation and early chick-rearing compared to late chick-rearing, which coincided with poorer body condition in breeding birds. This study highlights the value of haematology as a tool for identifying changing patterns of health that may serve as an early indicator of breeding failure, overwintering mortality, and population declines.

A health survey of the reef forming scleractinian cold-water corals Lophelia pertusa and Madrepora oculata in a remote submarine canyon on the European continental margin, NE Atlantic.

Monitoring of cold-water corals (CWCs) for pathogens and diseases is limited due to the environment, protected nature of the corals and their habitat and as well as the challenging and sampling effort required. It is recognised that environmental factors such as temperature and pH can expedite the ability of pathogens to cause diseases in cold-water corals therefore the characterisation of pathogen diversity, prevalence and associated pathologies is essential. The present study combined histology and polymerase chain reaction (PCR) diagnostic techniques to screen for two significant pathogen groups (bacteria of the genus Vibrio and the protozoan Haplosporidia) in the dominant NE Atlantic deep-water framework corals Lophelia pertusa (13 colonies) and Madrepora oculata (2 colonies) at three sampling locations (canyon head, south branch and the flank) in the Porcupine Bank Canyon (PBC), NE Atlantic. One M. oculata colony and four L. pertusa colonies were collected from both the canyon flank and the south branch whilst five L. pertusa colonies were collected from the canyon head. No pathogens were detected in the M. oculata samples. Neither histology nor PCR detected Vibrio spp. in L. pertusa, although Illumina technology used in this study to profile the CWCs microbiome, detected V. shilonii (0.03%) in a single L. pertusa individual, from the canyon head, that had also been screened in this study. A macroborer was observed at a prevalence of 0.07% at the canyon head only. Rickettsiales-like organisms (RLOs) were visualised with an overall prevalence of 40% and with a low intensity of 1 to 4 (RLO) colonies per individual polyp by histology. L. pertusa from the PBC canyon head had an RLO prevalence of 13.3% with the highest detection of 26.7% recorded in the south branch corals. Similarly, unidentified cells observed in L. pertusa from the south branch (20%) were more common than those observed in L. pertusa from the canyon head (6.7%). No RLOs or unidentified cells were observed in corals from the flank. Mean particulate organic matter concentration is highest in the south branch (2,612 µg l-1) followed by the canyon head (1,065 µg l-1) and lowest at the canyon flank (494 µg l-1). Although the route of pathogen entry and the impact of RLO infection on L. pertusa is unclear, particulate availability and the feeding strategies employed by the scleractinian corals may be influencing their exposure to pathogens. The absence of a pathogen in M. oculata may be attributed to the smaller number of colonies screened or the narrower diet in M. oculata compared to the unrestricted diet exhibited in L. pertusa, if ingestion is a route of entry for pathogen groups. The findings of this study also shed some light on how environmental conditions experienced by deep sea organisms and their life strategies may be limiting pathogen diversity and prevalence.

Age-based differences in the disability of spine injuries in pediatric and adult motor vehicle crash occupants.

OBJECTIVE: The objective was to develop a disability-based metric for quantifying disability rates as a result of motor vehicle crash (MVC) spine injuries and compare functional outcomes between pediatric and adult subgroups. METHODS: Disability rate was quantified using Functional Independence Measure (FIM) scores within the National Trauma Data Bank-Research Data System for the top 95% most frequent Abbreviated Injury Scale (AIS) 3 spine injuries (14 unique injuries). Pediatric (7-18 years), young adult (19-45 years), middle-aged adult (46-65 years), and older adult (66+ years) MVC occupants with FIM scores available and at least one of the 14 spine injuries were included. FIM scores of 1 or 2 at time of discharge were used to define disability and correspond to full functional or modified dependence in self-feeding, locomotion, and/or verbal expression. Disability rate was evaluated on a per injury basis for each AIS 3 spine injury and calculated as the proportion of cases associated with disability (i.e. FIM of 1 or 2) out of the total cases of that particular injury. Disability rates were calculated with and without the exclusion of cases with severe co-injuries (AIS 4+) to minimize bias from additional non-spinal injuries that could have contributed to disability. Associations between adjusted disability rates and existing mortality rates were investigated. RESULTS: Locomotion impairment alone was the most frequent disability type for the top 14 AIS 3 spine injuries (7 cervical, 4 thoracic, and 3 lumbar) across all age groups and spine regions. Adjusted and unadjusted disability rates ranged from 0-69%. Adjusted disability rates increased with age: 14.8 ± 10% (mean ± SD) in pediatrics to 16.2 ± 6.6% (young adults), 29.2 ± 10.9% (middle-aged adults), and 45.0 ± 12.2% (older adults). Among all adult populations, adjusted mortality and disability rates were positively correlated (R2>0.24), with disability rates consistently greater than corresponding mortality rates. CONCLUSIONS: Older adults had significantly greater disability rates associated with MVC spine injuries across all spinal regions. MVC disability rates for pediatrics were considerably lower. Overall, rates of mortality were significantly lower than rates of disability. The adjusted disability rates developed can supplement existing injury metrics by accounting for age- and location-specific functional implications of MVC spine injuries.

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.