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The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)
No full textIn utero exposure to maternal antibodies targeting the fetal acetylcholine receptor isoform (fAChR) can impair fetal movement, leading to arthrogryposis multiplex congenita (AMC). Fetal AChR antibodies have also been implicated in apparently rare, milder myopathic presentations termed fetal acetylcholine receptor inactivation syndrome (FARIS). The full spectrum associated with fAChR antibodies is still poorly understood. Moreover, since some mothers have no myasthenic symptoms, the condition is likely underreported, resulting in failure to implement effective preventive strategies. Here we report clinical and immunological data from a multicentre cohort (n = 46 cases) associated with maternal fAChR antibodies, including 29 novel and 17 previously reported with novel follow-up data. Remarkably, in 50% of mothers there was no previously established myasthenia gravis (MG) diagnosis. All mothers (n = 30) had AChR antibodies and, when tested, binding to fAChR was often much greater than that to the adult AChR isoform. Offspring death occurred in 11/46 (23.9%) cases, mainly antenatally due to termination of pregnancy prompted by severe AMC (7/46, 15.2%), or during early infancy, mainly from respiratory failure (4/46, 8.7%). Weakness, contractures, bulbar and respiratory involvement were prominent early in life, but improved gradually over time. Facial (25/34; 73.5%) and variable peripheral weakness (14/32; 43.8%), velopharyngeal insufficiency (18/24; 75%) and feeding difficulties (16/36; 44.4%) were the most common sequelae in long-term survivors. Other unexpected features included hearing loss (12/32; 37.5%), diaphragmatic paresis (5/35; 14.3%), CNS involvement (7/40; 17.5%) and pyloric stenosis (3/37; 8.1%). Oral salbutamol used empirically in 16/37 (43.2%) offspring resulted in symptom improvement in 13/16 (81.3%). Combining our series with all previously published cases, we identified 21/85 mothers treated with variable combinations of immunotherapies (corticosteroids/intravenous immunoglobulin/plasmapheresis) during pregnancy either for maternal MG symptom control (12/21 cases) or for fetal protection (9/21 cases). Compared to untreated pregnancies (64/85), maternal treatment resulted in a significant reduction in offspring deaths (P < 0.05) and other complications, with treatment approaches involving intravenous immunoglobulin/ plasmapheresis administered early in pregnancy most effective. We conclude that presentations due to in utero exposure to maternal (fetal) AChR antibodies are more common than currently recognized and may mimic a wide range of neuromuscular disorders. Considering the wide clinical spectrum and likely diversity of underlying mechanisms, we propose ‘fetal acetylcholine receptor antibody-related disorders’ (FARAD) as the most accurate term for these presentations. FARAD is vitally important to recognize, to institute appropriate management strategies for affected offspring and to improve outcomes in future pregnancies. Oral salbutamol is a symptomatic treatment option in survivors.D.N.d.-B. was supported by the Miguel Servet program from Instituto de Salud Carlos III, Spain (CP22/00141). H.J. acknowledges support from Action Medical Research, UK, the Myotubular Trust, UK, and the RYR-1 Foundation, USA.peer-reviewe
Diagnosis of sheep fasciolosis caused by Fasciola hepatica using cathepsin L enzyme-linked immunosorbent assays (ELISA)
No full textFasciolosis, a global parasitic disease of agricultural livestock, is caused by the liver fluke Fasciola hepatica. Management and strategic control of fasciolosis on farms depends on early assessment of the extent of disease so that control measures can be implemented quickly. Traditionally, this has relied on the detection of eggs in the faeces of animals, a laborious method that lacks sensitivity, especially for sub-clinical infections, and identifies chronic infections only. Enzyme linked immunosorbent assays (ELISA) offer a quicker and more sensitive serological means of diagnosis that could detect early acute infection before significant liver damage occurs. The performance of three functionally-active recombinant forms of the major F. hepatica secreted cathepsins L, rFhCL1, rFhCL2, rFhCL3, and a cathepsin B, rFhCB3, were evaluated as antigens in an indirect ELISA to serologically diagnose liver fluke infection in experimentally and naturally infected sheep. rFhCL1 and rFhCL3 were the most effective of the four antigens detecting fasciolosis in sheep as early as three weeks after experimental infection, at least five weeks earlier than both coproantigen and faecal egg tests. In addition, the rFhCL1 and rFhCL3 ELISAs had a very low detection limit for liver fluke in lambs exposed to natural infection on pastures and thus could play a major role in the surveillance of farms and a 'test and treat' approach to disease management. Finally, antibodies to all three cathepsin L proteases remain high throughout chronic infection but decline rapidly after drug treatment with the flukicide, triclabendazole, implying that the test may be adapted to trace the effectiveness of drug treatment.This work was supported by a European Research Council Advanced Grant (HELIVAC, 322725) and Science Foundation Ireland (SFI) Professorship grant (17/RP/5368) awarded to J.P. Dalton.peer-reviewe
Reptiles in Souss-Massa National Park: Diversity, habitat suitability and ecological niche modelling
No full textThe reptiles of Souss-Massa National Park (SMNP) hold great ecological value, yet remain relatively understudied. This thesis aims to advance our knowledge of reptiles and generate conservation-related data. The thesis's first study assessed reptile biodiversity in SMNP, resulting in an inventory of 23 species, including 4 endemics and 7 species of conservation concern (vulnerable and near-threatened species). The non-parametric estimators predicted a maximum of 25 species. The sampling effort and inventory completeness indicated a likely complete inventory. SMNP is a key biodiversity hotspot, hosting ~20% of Morocco's reptile species (16% of endemics). The second study utilised Geographic Information System techniques, remote sensing and field data to classify and map SMNP habitat types. The study reveals 11 undisturbed habitat classes (70.91%) and 6 disturbed habitat classes (29.09%) within SMNP. Fencing proved effective for conservation, with fenced areas dominated by undisturbed habitats, and unfenced areas containing more disturbed habitats. The third study assessed reptile response to anthropogenic habitat degradation. Reptile community variables were compared among 4 habitat categories with varying degradation degrees. Species richness, diversity and abundance differed significantly across habitat categories, with the most degraded areas having the lowest means. Species composition varied significantly among habitat categories, with highly degraded areas showing the lowest similarity when compared to other categories. Reptiles responded differently to degradation, indicating species-specific impacts. Vegetation cover reduction, as indicated by the calculated vegetation index means, increased with habitat degradation. Therefore, responses to degradation may be influenced by factors associated with natural vegetation (food availability, microhabitat preferences, interactions with other species…). The fourth study used MaxEnt modelling to map habitat suitability for reptiles in SMNP, analysing the influence of environmental variables on species distribution and identifying areas with high predicted species richness. Habitat type, which includes undisturbed and disturbed habitats, is the most influential environmental variable for the majority of species (75%). Acanthodactylus margaritae has the widest distribution of suitable areas, while Eumeces algeriensis has the narrowest. Agama bibronii and Saurodactylus brosseti have highly similar ecological niches (92% similarity), while Saurodactylus brosseti and Chalcides sphenopsiformis have the least similarity (33% maximum). In terms of species richness, fenced reserves have a higher composition of highly diverse areas compared to unfenced areas. Additionally, disturbed habitats show lower species diversity than undisturbed habitats, indicating the negative impact of habitat disturbance on reptiles. Therefore, conservation attention is required outside fen
Silence in court: Limited English proficiency defendants in Irish Criminal District Courts
No full text[No abstract available]2026-04-1
Staidéar samplach ar fheidhm an logainm i nualitríocht na Gaeilge
No full textIs sa Ghaeilge atá a bhfréamhacha agus a mbunús ag an chuid is mó de na hainmneacha atá againn sa tír seo ar áiteanna, ar lonnaíochtaí, ar áitribh chónaithe agus ar ghnéithe den tírdhreach agus den mhuirdhreach, ó thaobh na tíreolaíochta agus na seandálaíochta de. Ar na logainmneacha sin, áirítear, i measc mórán eile, cnoic, clocha agus carraigeacha, gleannta agus machairí, oileáin agus insí mara agus locha, tógálacha cosanta, lárionaid Phágántachta agus suíomhanna eaglasta Críostaí (Flanagan, 1975: 1–6; Hughes, 1991: 116–37). Ina n-ainneoin seo uile go léir: creachadóireacht, scrios agus trádáil na Lochlannach, ionradh agus concas na Normannach, concais na dTúdarach agus díshealbhú tailte fairsinge a bhí i seilbh Gael le linn plandálacha suntasacha a thionscain an rialtas sa 16ú céad agus sa 17ú céad (Ó Mainnín, 2017), maireann bunbhrí na n-eilimintí Gaeilge seo, chomh maith lena leaganacha Béarlaithe amhail sliabh mar atá san ainm Sliabh Mis (Slemish, Contae Aontroma); cnoc: Cnoc na gCoiníní (Knocknagoney, Contae an Dúin); gleann: Gleann an Iolair (Glenullen, Contae Dhoire); dún: Dún na nGall (Donegal, Contae Dhún na nGall); cill: An tSeanchill (Shankill, Contae Aontroma), etc.peer-reviewe
“On the Wisp” Rethinking birthplace in Ireland for a more-than-human world
No full textAt the beginning of the twentieth century, most Irish people’s birthplace was synonymous with their homeplace. However, by the end of the century, 99% of all Irish births occurred in hospital settings. In that time there has been a significant move away from locally-provided maternity care towards centralised services concentrated in urban areas. Such national trends are similarly reflected in County Clare; a region in the west of Ireland where there have been no maternity services since 1987. This thesis argues that the historical shift from home to hospital-based births has disregarded society’s relationship with birthplace. The study identifies birthplace as the ongoing reciprocal exchange between the human body and the material physical environment. It contends that birthplace is an ecological process and event and proposes that birthplace be reframed within the more-than-human world. Such an environmental perspective on birth acknowledges the complex interdependency of human and non-human needs. This research project sits at the intersection of Irish Studies, Environmental Humanities, Medical Humanities, and Visual Culture. It is an interdisciplinary, research-led with art practice project. The art practice employs forms of sympoietic (making with) storytelling employing methods such as audio storytelling (multigenerational birthplace stories) with video, photography, and material practice such as paper made from straw. In Ireland, the once commonplace phrase “on the wisp” or “on the straw” described how women often birthed onto straw. This phrase is used in this study to reference the materiality of place and reflect the interconnectedness of people with ecology. The significance of this study is that it extends birth politics in Ireland by creating understandings of birthplace hitherto overlooked. By drawing upon the environmental humanities as a way of rethinking the historical context of birth, this study offers an alternative interpretation of the modern Irish maternity system. It reappraises established medical practices which have contributed to the decline in homeplace births and offers fresh insight into the current obstetric-led system in Ireland.2026-02-0
Challenges and opportunities in future hydrogen supply chain design and operation: A techno-economic analysis
No full textHydrogen is seen as a key tool for achieving energy system decarbonisation. The opportunities it represents for clean industry and energy security are widely understood, as evidenced by its inclusion in two hallmark pieces of clean energy legislation: the EU Green Deal, and the US Government’s Inflation Reduction Act. Despite this, many of the challenges to be overcome in developing a clean hydrogen industry are not yet deeply understood. There remains much uncertainty about how policy can best enable the rapid scale-up required of the industry to deliver on ambitious climate targets. The work described in this thesis aims to investigate the challenges and opportunities of the burgeoning clean hydrogen industry through comprehensive techno-economic analysis of hydrogen production, storage, and supply, with a particular focus on the island of Ireland. The work identifies that hydrogen storage has not been adequately considered in much of the analysis of hydrogen supply chains, and key implications for hydrogen cost and emissions footprint therefore not discovered. Calculated levelised cost of renewable hydrogen in 2030 varies from €3.90-12.40/kgH2 depending on storage technology. In addition, the work highlights how grid-connected hydrogen production can operate flexibly based on market prices, producing low-cost, low-carbon hydrogen. A levelised cost of €2.05/kg for 2030 can be achieved, with carbon intensities lower than 1 gCO2/gH2 for grid-connected electrolysis in an 80% renewable power system. The sheer scale of investment and relatively short timelines required to deploy hydrogen infrastructure on the island of Ireland to meet climate targets are also outlined. Estimated hydrogen demand in Ireland in 2050 ranges from 36 TWh to 116 TWh. For context, natural gas consumption in the Republic of Ireland was 51 TWh in 2021. These findings underline the key considerations faced by project developers and policymakers alike in realising hydrogen’s role in decarbonisation. The challenges faced by hydrogen storage must be overcome through innovation and forward-thinking policy, whilst policy is also crucial in enabling system integration to ensure hydrogen plays a role in achieving clean, affordable, and secure energy for all
Photoacoustic imaging in regenerative medicine using endogenous and exogenous contrast agents
No full textWith the advent of stem cell therapy for degenerative diseases and disorders, the need to track the homing, survival, migration, differentiation and pathophysiology of stem cells administered in a clinical study is crucial. Photoacoustic imaging (PAI) or Optoacoustic imaging combines optical absorption contrast with ultrasonic resolution and utilises both endogenous and exogenous contrast agents for gathering molecular information in real-time. This enables longitudinal detection at clinically relevant penetration depths in vivo. The motivation of the thesis is to explore the imaging capability of multispectral optoacoustic tomography (MSOT) using both exogenous and endogenous contrast agents. First, gold nanostars were designed and developed to have absorption in the second near-infrared window, particularly at 1064 nm. Moreover, the surface functionalisation with Chitosan improved the cellular labelling efficiency with gold nanostars. This translated to the in vitro visualisation of 50 mesenchymal stem cells (MSCs) in 1 µL volume. Next, the therapeutic response of the MSCs was monitored after labelling with gold nanostars in an osteoarthritis murine model. This study revealed that the labelled stem cells were tracked for 80 days in the knee while the gold nanostars administered on their own were cleared from the knee between 5 - 10 days. Most importantly, it was observed that the gold nanostars did not interfere with the regenerative properties of the MSCs and demonstrated a therapeutic response similar to the animals administered with unlabelled MSCs. Finally, the capability of MSOT to acquire functional information using endogenous contrast in comparison to laser Doppler imaging (LDI) was demonstrated in a hind limb ischaemia murine model. In comparison to LDI, MSOT facilitated a three-dimensional volumetric quantification of total haemoglobin and oxygen saturation while keeping extraneous variability to a minimum. Moreover, the need for using an exogenous contrast agent like gold nanostars in conjunction with PAI is demonstrated
Energy retrofits: Factors affecting a just transition to better indoor air quality
No full textIn comparison with other European countries, Ireland has a disproportionately high number of poorly performing energy-inefficient buildings. Consequently, Ireland has one of the most ambitious energy retrofit programmes in Europe. The aim of this study was to evaluate the impact of deep energy renovation measures i.e. (replacement of heating system and upgrade to building envelope) on indoor air quality, thermal comfort and ventilation in a sample of primarily social housing in Ireland. A mixed methods approach including measurement of indoor air quality and a thermal comfort questionnaire survey was employed. Indoor concentration measurements of PM2.5, carbon dioxide, formaldehyde, and radon along with measurements of air temperature and relative humidity were made (N=14). Occupants (n=56) completed a thermal comfort questionnaire survey pre- and post-retrofit. Data collection ran from autumn 2020 until autumn 2023.
Thermal comfort improved post-retrofit along with occupant satisfaction with the indoor thermal environment and heating-systems. Post-retrofit, higher bedroom CO2, and higher PM2.5 concentrations were recorded in both living areas and bedrooms. Occupant behaviours e.g. blocking wall vents were significant predictors of poorer ventilation while smoking indoors was related to higher concentrations of PM2.5. In general, homes that had mechanical ventilation systems installed were better ventilated. Underventilation, as indicated by visible condensation or mould was observed in half of the social homes surveyed and reported by questionnaire respondents (26 %). Tailored communications to occupants regarding the important role of ventilation and indoor air quality is required as part of retrofit to optimise impacts on IEQ
The Poincaré-extended -index
No full textMotivated by a conjecture concerning Igusa local zeta functions for intersection posets of hyperplane arrangements, we introduce and study the Poincaré-extended -index, which generalizes both the -index and the Poincaré polynomial. For posets admitting -labelings, we give a combinatorial description of the coefficients of the extended -index, proving their nonnegativity. In the case of intersection posets of hyperplane arrangements, we prove the above conjecture of the second author and Voll as well as another conjecture of the second author and Kühne. We also define the pullback -index, generalizing the -index of face posets for oriented matroids. Our results recover, generalize, and unify results from Billera–Ehrenborg–Readdy, Bergeron–Mykytiuk–Sottile–van Willigenburg, Saliola– Thomas, and Ehrenborg. This connection allows us to translate our results into the language of quasisymmetric functions, and — in the special case of symmetric functions — pose a conjecture about Schur positivity. This conjecture was strengthened and proved by Ricky Liu, and the proof appears as an appendix.This work is supported by DFG Heisenberg grant STU 563/{4-6}-1 “Noncrossing phenomena in Algebra and Geometry” (Galen Dorpalen-Barry, Christian Stump) and by DFG-GRK 2297 “Mathematical Complexity Reduction” (Joshua Maglione).
Open access funding provided by IReL.peer-reviewe