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.

Nonequilibrium currents in stochastic field theories: A geometric insight.

We introduce a formalism to study nonequilibrium steady-state probability currents in stochastic field theories. We show that generalizing the exterior derivative to functional spaces allows identification of the subspaces in which the system undergoes local rotations. In turn, this allows prediction of the counterparts in the real, physical space of these abstract probability currents. The results are presented for the case of the Active Model B undergoing motility-induced phase separation, which is known to be out of equilibrium but whose steady-state currents have not yet been observed, as well as for the Kardar-Parisi-Zhang equation. We locate and measure these currents and show that they manifest in real space as propagating modes localized in regions with nonvanishing gradients of the fields.

Development and Service Evaluation of an ad hoc Virtual Arthroplasty Clinic during COVID-19: Experiences from Irish National Orthopaedic Hospital.

Introduction: COVID-19 has had a significant impact on healthcare. It has forced orthopaedic surgeons to limit face-to-face patient contact. This resulted in the ad hoc creation of a virtual arthroplasty clinic (VAC) in Irish National Orthopaedic Hospital. We aimed to assess this new VAC and ascertain its effectiveness as an alternative to physical appointments during and following the pandemic. Materials and methods: Patients were followed-up in this VAC six weeks post-operatively. A service evaluation of this virtual arthroplasty clinic was carried out using a questionnaire created by the orthopaedic department. Results: A total of 30 patients requiring 6-week follow-up after the arrival of COVID-19 in Ireland were included. Average pre- and post-operative visual analogue scale score (VAS) was 8.1 and 2.3, respectively. Average pre- and postoperative Oxford hip and knee score was 19.1 and 39.2, respectively. Twenty-one patients (70%) were happy to have their six weeks post-operative e-outpatient consultation virtually. Twenty-six patients (86%) were happy with future virtual follow-up. Twenty-eight patients (93%) would be happy experiencing the whole process again. Eleven patients would be interested in having future joint replacement surgery, though ten of them (91%) stated COVID-19 would impact that decision. Conclusion: Most patients were happy to have their six-week appointment and future appointments virtually. Functional outcome scores had improved and pain scores had reduced at six-week follow-up, supporting the idea that virtual clinics are not inferior to physical clinics. Patients expressed concern about having a further joint replacement in the context of COVID-19.

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.

Good mid- to long-term results of the cemented oxford phase 3 unicompartmental knee arthroplasty in a non-designer centre.

PURPOSE: Unicompartmental knee arthroplasty (UKA) provides patients with an alternative treatment to TKA in isolated medial compartment osteoarthritis providing better functional outcomes and faster recovery in the short term. Our aim was to quantify revision rates, predictors of revision, mortality rate and functionality of the Oxford Phase 3 UKA in a non-designer institution. METHODS: This was a retrospective review of prospectively collected regional registry data. All Oxford Phase 3 UKAs performed for medial tibio-femoral osteoarthritis of the knee joint were included from a single academic institution between the period of January 1st 2006 and December 30th 2009. Kaplan-Meier survivorship curves adjusting for loss to follow-up and deceased patients were generated. Primary outcome variables included all-cause and aseptic revision. Secondary outcome variables included functional outcome scores. Patients were reviewed at 6 months, 2 years, 5 years, 10 years and 15 years. RESULTS: A total of 64 cemented Oxford phase 3 UKAs were performed between January 2006 and November 2009. Fifteen-year follow-up data were available for 51 patients, of these 12 required revision. Survival rates, adjusting for patients that were either lost to follow-up or deceased, were 87.5% at 5 years, 81.4% at 10 years and 76.4% at 15 years. The overall aseptic revision rate at the time of review was 18.75% (n = 12). The only significant predictor of postoperative WOMAC score at 15 years was the preoperative WOMAC score (p = 0.03). CONCLUSION: The Oxford Phase 3 UKA for medial tibio-femoral arthritis has promising outcomes at 15-year follow-up with a survival rate of 76.4% in a non-designer centre. LEVEL OF EVIDENCE: III.

The varus cemented femoral stem in total hip arthroplasty: Predictors, implications and The Femoral Access Ratio.

INTRODUCTION: We describe a novel morphological ratio, the Femoral Access Ratio, in the preoperative femur to investigate the predictors of femoral stem malalignment. METHODS: We reviewed 70 cemented femoral stems. Preoperative 'FAR' score was measured. Postoperative coronal stem alignment was measured and ten year survivorship and functional outcomes investigated. RESULTS: There were three predictors of varus stem malalignment-BMI, GT-height and 'FAR' score. Increasing BMI led to higher rates of malalignment (p = 0.048). 'FAR' score <1 lead to 68.4% of varus stems. GT height contributed most to the prediction of varus stem malalignment (p = 0.013). CONCLUSION: FAR score is a simple preoperative radiographic measurement that can predict the likelihood of femoral stem varus malalignment in cemented femoral stems.

Custom solution for personal protective equipment (PPE) in the orthopaedic setting: retrofitting Stryker Flyte T5 PPE system.

The coronavirus disease 2019 pandemic has meant that there is growing pressure on hospital resources, not least the availability of appropriate personal protective equipment (PPE), particularly face masks and respirator masks. Within the field of orthopaedic surgery, it is a common sight to see surgeons wearing 'space suits' (SSs) which comprise a helmet, hood and surgical gown. In this study, the authors made modifications to two different SS systems to incorporate a high-efficiency particulate air (HEPA) filter into the fan inlet to assess their potential as re-usable PPE systems for surgeons with regard to protection from a virus spread via respiratory droplets. The testing was carried out using particle counters upstream and downstream on a mannequin wearing two different SS systems with and without modifications to the fan inlet. The results show that using a layer of HEPA filter, cut to size and sealed to the fan inlet in the helmet, will reduce downstream particulates at the user's mouth by >99.5%; this is equivalent to a respirator mask. HEPA filter material is relatively cheap and can be used repeatedly, making this a viable alternative to disposable, and even resterilized, respirator masks in the setting of a respiratory-droplet-spread viral pandemic.

Lamellar to Micellar Phases and Beyond: When Tactic Active Systems Admit Free Energy Functionals.

We consider microscopic models of active particles whose velocities, rotational diffusivities, and tumbling rates depend on the gradient of a local field that is either externally imposed or depends on all particle positions. Despite the fundamental differences between active and passive dynamics at the microscopic scale, we show that a large class of such tactic active systems admit fluctuating hydrodynamics equivalent to those of interacting Brownian colloids in equilibrium. We exploit this mapping to show how taxis may lead to the lamellar and micellar phases observed for soft repulsive colloids. In the context of chemotaxis, we show how the competition between chemoattractant and chemorepellent may lead to a bona fide equilibrium liquid-gas phase separation in which a loss of thermodynamic stability of the fluid signals the onset of a chemotactic collapse.

Surgical tuition within Irish hospitals: a national survey.

INTRODUCTION: The General Medical Council (GMC) of the UK states that doctors have a duty to train and contribute to the education of colleagues, and that those involved in formal clinical teaching should have a teaching qualification. OBJECTIVES: We sought to evaluate the current levels of engagement of surgical trainees and recently appointed surgical consultants in clinical teaching. METHODS: All trainees who commenced a basic or higher surgical training post during or after 2007 were invited to participate. The electronic questionnaire was administered using the survey tool GetFeedback, collecting information regarding subspecialty, current role, quantity of teaching that respondents engaged in and who they taught and teaching motivations and barriers. RESULTS: There were 128 respondents out of 358 invitations to participate (36% response rate). Less than half (39%) of respondents had attended formal courses on clinical education. Over 70% of respondents engaged in clinical teaching for two or more hours each week. A lack of time and resources were noted as barriers to engaging in teaching. We found a low number of those involved in teaching seeking feedback after teaching sessions. CONCLUSION: In surgery, the apprenticeship model is still the framework for developing the surgeons of the future. In attempting to produce a highly skilled workforce for the future, we rely on those in senior positions to train those coming through; higher surgical trainees are relied on to teach the core surgical trainees and so on. Our study shows a low level of formalisation of this model.

Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.

BACKGROUND: Investigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limited knowledge of rare diseases and a poor understanding of the purpose or limitations of appropriate investigations have been some of the principal reasons for this difficulty. AIMS: A guideline development group was formed to recommend on appropriate, first line metabolic, genetic and radiological investigations for children and adults with unexplained GDD/ID. METHODS AND RECOMMENDATIONS: A comprehensive literature search was conducted, evaluated and reviewed by the guideline committee and a best practice protocol for first line assessment and genetic, metabolic and radiological investigations was decided upon after considering diagnostic yield, practicality, treatability and costs. CONCLUSION: It is hoped that these recommendations will become national guidelines for the first line metabolic, genetic and radiological investigation of patients presenting with unexplained GDD/ID.

The Irish experience of Symphysiotomy: 40 years onwards.

The art of symphysiotomy for delivery in the instance of cephalopelvic disproportion has been a dying art since the advent of caesarean section but in Ireland this surgical procedure was not abolished until 1992. This practice is still present in the developing world and in some circumstances used in developed countries. This study offers some insights on the 40-year follow-up of patients who had undergone symphysiotomy.

Neuroimaging findings in primary insomnia.

State-of-the-art neuroimaging techniques have accelerated progress in the study and understanding of sleep in humans. Neuroimaging studies in primary insomnia remain relatively few, considering the important prevalence of this disorder in the general population. This review examines the contribution of functional and structural neuroimaging to our current understanding of primary insomnia. Functional studies during sleep provided support for the hyperarousal theory of insomnia. Functional neuroimaging also revealed abnormalities in cognitive and emotional processing in primary insomnia. Results from structural studies suggest neuroanatomical alterations in primary insomnia, mostly in the hippocampus, anterior cingulate cortex and orbitofrontal cortex. However, these results are not well replicated across studies. A few magnetic resonance spectroscopy studies revealed abnormalities in neurotransmitter concentrations and bioenergetics in primary insomnia. The inconsistencies among neuroimaging findings on insomnia are likely due to clinical heterogeneity, differences in imaging and overall diversity of techniques and designs employed. Larger samples, replication, as well as innovative methodologies are necessary for the progression of this perplexing, yet promising area of research.

The role of osteoblasts in peri-prosthetic osteolysis.

Peri-prosthetic osteolysis and subsequent aseptic loosening is the most common reason for revising total hip replacements. Wear particles originating from the prosthetic components interact with multiple cell types in the peri-prosthetic region resulting in an inflammatory process that ultimately leads to peri-prosthetic bone loss. These cells include macrophages, osteoclasts, osteoblasts and fibroblasts. The majority of research in peri-prosthetic osteolysis has concentrated on the role played by osteoclasts and macrophages. The purpose of this review is to assess the role of the osteoblast in peri-prosthetic osteolysis. In peri-prosthetic osteolysis, wear particles may affect osteoblasts and contribute to the osteolytic process by two mechanisms. First, particles and metallic ions have been shown to inhibit the osteoblast in terms of its ability to secrete mineralised bone matrix, by reducing calcium deposition, alkaline phosphatase activity and its ability to proliferate. Secondly, particles and metallic ions have been shown to stimulate osteoblasts to produce pro inflammatory mediators in vitro. In vivo, these mediators have the potential to attract pro-inflammatory cells to the peri-prosthetic area and stimulate osteoclasts to absorb bone. Further research is needed to fully define the role of the osteoblast in peri-prosthetic osteolysis and to explore its potential role as a therapeutic target in this condition.

The accuracy and inter-observer reliability of acetate templating in total hip arthroplasty.

AIM: The accuracy and inter-observer reliability (IOR) of acetate templating on hard copy X-rays in 33 primary total hip arthroplasties as measured by consultant and trainee surgeons was analyzed to find out how accurate are junior surgeons undertaking specialty training. METHODS: The study was questionnaire-based using a prospective cohort over a 4 weeks period. The Surgeon measurements of acetabular cup, femoral stem and femoral offset sizes were noted following acetate measurements and then compared with the final implant chosen during surgery. RESULTS: Prediction of sizing to within one size of the final match size was 75% accurate for cup and 91% accurate for femoral stem. Prediction of exact femoral offset sizes was 91% accurate. Templating showed strong IOR between senior consultant surgeon and junior trainee registrar within one size for cup (83%) and stem (100%) and for exact hip offset prediction (92%). CONCLUSION: We conclude that acetate templating on hard copy X-rays is beneficial to surgeons to gauge acetabular cup and femoral stem size to within one size range. This further helps in predicting nearly exact femoral offset size.

Predicting the external formation of callus tissues in oblique bone fractures: idealised and clinical case studies.

It is proposed that the external asymmetric formation of callus tissues that forms naturally about an oblique bone fracture can be predicted computationally. We present an analysis of callus formation for two cases of bone fracture healing: idealised and subject-specific oblique bone fractures. Plane strain finite element (FE) models of the oblique fractures were generated to calculate the compressive strain field experienced by the immature callus tissues due to interfragmentary motion. The external formations of the calluses were phenomenologically simulated using an optimisation style algorithm that iteratively removes tissue that experiences low strains from a large domain. The resultant simulated spatial formation of the healing tissues for the two bone fracture cases showed that the calluses tended to form at an angle equivalent to the angle of the oblique fracture line. The computational results qualitatively correlated with the callus formations found in vivo. Consequently, the proposed methods show potential as a means of predicting callus formation in pre-clinical testing.

A survey of upper and lower limb tourniquet use among Irish orthopaedic surgeons.

BACKGROUND: Tourniquet use in orthopaedic surgery is common practice. However, the technique varies among Irish orthopaedic surgeons and there are no standard guidelines. AIM: To analyse trends in tourniquet use among Irish orthopaedic surgeons. METHODS: Ninety-two Irish orthopaedic consultants were sent a 15-survey question about tourniquet use by post. RESULTS: Sixty respondents returned a completed survey, of which 49 (81% of respondents) used both upper arm and thigh tourniquets. A variation in tourniquet pressure settings and techniques used was reported. Thirty-nine surgeons (65% of respondents) use a tourniquet pressure range of 201-250 mmHg for the upper arm and 30 surgeons (50% of respondents) use a range of 251-300 mmHg for the thigh. Thirty-six surgeons (60 % of respondents) experienced a complication secondary to tourniquet use, the most common complications being nerve and skin injury. CONCLUSIONS: Based on published studies of limb occlusion pressures, this study suggests that some of the tourniquet cuff inflation pressures used may be higher than necessary. Guidelines for optimising cuff pressure and technique should be established to minimise the risk of complications. This study may help determine direction for future research on tourniquet use.

Design, implementation and prospective evaluation of a new interactive musculoskeletal module for medical students in Ireland.

BACKGROUND: We designed, implemented and assessed an interactive musculoskeletal teaching module for fourth-year medical students. Over a 2-week period, students followed a programme of alternating lectures, interactive tutorials, case discussions, clinical examination and 'how to do' sessions using patients and clinical models. METHODS: Over a 4-month period, 140 fourth-year medical students rotated for 2 weeks through a new interactive musculoskeletal teaching module in an elective orthopaedic hospital. To assess the impact of our module, a basic-competency examination in musculoskeletal medicine was developed and validated. Each student completed the examination on the first and last days of the module. We also assessed musculoskeletal basic knowledge in students from a different medical school, receiving a classic lecturing programme. RESULTS: In the pre-course assessment, only 20 % of students achieved an overall pass rate. The pass rate increased to 85 % in post-course examination. Students found particularly beneficial the interactive tutorial approach, with 48 % finding this to be the single most effective teaching method. When compared with students who completed a classic lecturing programme, students attending our interactive module scored higher in all aspects of musculoskeletal knowledge. SIGNIFICANCE: This study highlights the benefits and need for more interactive teaching of musculoskeletal medicine in medical schools.

Neck narrowing in resurfacing hip arthroplasty: a vascular insult?

INTRODUCTION: Recent reports show increased failure rates in hip resurfacings that display >10 % neck narrowing. The etiology of neck narrowing remains unknown. METHODS: We assessed 80 hip resurfacings at mean 3.5 years follow-up. RESULTS: The overall rate of significant narrowing was 11.25 %. Neck narrowing occurred in 4 % of patients using an anterolateral approach and 23.3 % using a posterior approach (P = 0.019). Logistic regression showed that both surgical approach and cup inclination angle were the most important risk factors for the development of narrowing. The odds of the presence of narrowing increased for every degree increase in cup abduction angle (P = 0.021). There was no significant association with age, sex, pre-operative diagnosis, pre- and post-operative SF-36 scores, neck shaft angle, femoral or acetabular component sizes. CONCLUSION: We postulate that neck narrowing is a result of damage to the medial circumflex femoral vessel when resurfacing through a posterior approach.