Search

A novel technology for inducing unconsciousness prior to slaughter has been developed (DTS). For commercial reasons meat quality attributes are important, and impacts on endocrine responses provide an indication of animal welfare. We compared endocrine, ultimate pH and meat quality (after 1 and 10 weeks of storage) attributes of cattle carcases processed using DTS with those processed using penetrative captive bolt (CB). There were no significant differences between treatments in the change in plasma cortisol, adrenocorticotropic hormone, β-endorphin and catecholamines between baseline and immediately post-slaughter, and no significant differences in terms of pH at 24 h post slaughter. There were no significant differences in pH, shear force, TBARS or drip loss between DTS and CB samples of round and loin at week 1 and week 10 post slaughter; DTS meat was yellower at quartering (MINOLTA b* P < 0.05). At week 1, DTS loins were redder (MINOLTA a*, P < 0.05) and yellower (MINOLTA b*, P < 0.05), while DTS rounds were lighter (MINOLTA L*, P < 0.05), than CB. At week 10, there were no significant meat color differences between treatments. Processing cattle using DTS results in endocrine changes and meat quality attributes that are comparable to CB.

Northern Ireland has a deeply divided education system with demarcation most notable along ethno/religious and social class lines. The former is largely attributable to the historical organization of the schools estate based on religion, and the latter is associated with a system of academic selection that filters children into Grammar and non-selective post-primary schools according to their performance in tests taken during the final year of primary school. Academic selection, and the grammar school system that underpins it, has come under some considerable scrutiny, with much of the research evidence pointing to a negative relationship between the selective system and equality of opportunity in education. The suitability of this system in a transitioning society that has become more ethnically diverse in post conflict years has, however, received less attention. Drawing on social cohesion theory, we reflect on the grammar school system to argue that the cross-community class interests animating it not only perpetuate inequalities within respective communities but may also present a significant barrier to peacebuilding efforts in education, and ultimately impede progress towards a more socially cohesive society.

Adopting a social cohesion framework, we consider how the shared education model in Northern Ireland reflects distributive, ideational and relational dimensions of social cohesion, and the processes through which its implementation may be contributing to a more socially cohesive society. We use this case study to reflect on the current conceptualisation of social cohesion in the literature and to argue for dynamic and interdependent connections between aspects of cohesion that are often assessed in isolation. Our analysis draws on the body of research on shared education that has accumulated since the first pilots were introduced in 2007.

Meat quality can be affected by stress, exhaustion, feed composition, and other physical and environmental conditions. These stressors can alter the pH in postmortem muscle, leading to high pH and low-quality dark cutting (DC) beef, resulting in considerable economic loss. Moreover, the dark cutting prediction may equally provide a measure for animal welfare since it is directly related to animal stress. There are two needs to advance on-site detection of dark cutters: (1) a clear indication that biomarker (signature compounds) levels in cattle correlate with stress and DC outcome; and (2) measuring these biomarkers rapidly and accurately on-farm or the abattoir, depending on the objectives. This critical review assesses which small molecules and proteins have been identified as potential biomarkers of stress and dark cutting in cattle. We discuss the potential of promising small molecule biomarkers, including catecholamine/cortisol metabolites, lactate, succinate, inosine, glucose, and β-hydroxybutyrate, and we identify a clear research gap for proteomic biomarker discovery in live cattle. We also explore the potential of chemical-sensing and biosensing technologies, including direct electrochemical detection improved through nanotechnology (e.g., carbon and gold nanostructures), surface-enhanced Raman spectroscopy in combination with chemometrics, and commercial hand-held devices for small molecule detection. No current strategy exists to rapidly detect predictive meat quality biomarkers due to the need to further validate biomarkers and the fact that different biosensor types are needed to optimally detect different molecules. Nonetheless, several biomarker/biosensor combinations reported herein show excellent potential to enable the measurement of DC potential in live cattle.

At present, human spaceflight is confined to low Earth orbit but, in future, will again go to the Moon and, beyond, to Mars. The provision of food during these extended missions will need to meet the special nutritional and psychosocial needs of the crew. Terrestrially grown and processed food products, currently provided for consumption by astronauts/cosmonauts, have not yet been systematically optimised to maintain their nutritional integrity and reach the shelf-life necessary for extended space voyages. Notably, space food provisions for Mars exploration will be subject to extended exposure to galactic cosmic radiation and solar particle events, the impact of which is not fully understood. In this review, we provide a summary of the existing knowledge about current space food products, the impact of radiation and storage on food composition, the identification of radiolytic biomarkers and identify gaps in our knowledge that are specific in relation to the effect of the cosmic radiation on food in space.

BackgroundWolman disease is a rare, lysosomal storage disorder in which biallelic variants in theLIPAgene result in reduced or complete lack of lysosomal acid lipase. The accumulation of the substrates; cholesterol esters and triglycerides, significantly impacts cellular function. Untreated patients die within the first 12 months of life. Clinically, patients present severely malnourished, with diarrhoea and hepatosplenomegaly, many have an inflammatory phenotype, including with hemophagocytic lymphohistiocytosis (HLH). Hematopoietic stem cell transplant (HCT) had been historically the only treatment available but has a high procedure-related mortality because of disease progression and disease-associated morbidities. More recently, enzyme replacement therapy (ERT) with dietary substrate reduction (DSR) has significantly improved patient survival. However, ERT is life long, expensive and its utility is limited by anti-drug antibodies (ADA) and the need for central venous access.ResultsWe describe five Wolman disease patients diagnosed in infancy that were treated at Royal Manchester Children's Hospital receiving ERT with DSR then HCT—multimodal therapy. In 3/5 an initial response to ERT was attenuated by ADA with associated clinical and laboratory features of deterioration. 1/5 developed anaphylaxis to ERT and the other patient died post HCT with ongoing HLH. All patients received allogeneic HCT. 4/5 patients are alive, and both disease phenotype and laboratory parameters are improved compared to when they were on ERT alone. The gastrointestinal symptoms are particularly improved after HCT, with reduced diarrhoea and vomiting. This allows gradual structured normalisation of diet with improved tolerance of dietary fat. Histologically there are reduced cholesterol clefts, fewer foamy macrophages and an improved villous structure. Disease biomarkers also show improvement with ERT, immunotherapy and HCT. Three patients have mixed chimerism after HCT, indicating a likely engraftment-defect in this condition.ConclusionWe describe combined ERT, DSR and HCT, multimodal treatment for Wolman disease. ERT and DSR stabilises the sick infant and reduces the formerly described prohibitively high, transplant-associated mortality in this condition. HCT abrogates the problems of ERT, namely attenuating ADA, the need for continuing venous access, and continuing high cost drug treatment. HCT also brings improved efficacy, particularly evident in improved gastrointestinal function and histology. Multimodal therapy should be considered a new paradigm of treatment for Wolman disease patients where there is an attenuated response to ERT, and for all patients where there is a well-matched transplant donor, in order to improve long term gut function, tolerance of a normal diet and quality of life.

Since 1972, eighteen patients (10 females/8 males) have been detected by newborn bloodspot screening (NBS) with neonatal-onset Maple Syrup Urine Disease (MSUD) in Ireland. Patients were stratified into three clusters according to clinical outcome at the time of data collection, including developmental, clinical and IQ data. A fourth cluster comprised of two early childhood deaths; a third patient died as an adult. We present neuroimaging and EEG together with clinical and biochemical data. Incidence of MSUD (1972-2018) was 1 in 147,975. Overall good clinical outcomes were achieved with 15/18 patients alive and with essentially normal functioning (with only the lowest performing cluster lying beyond a single standard deviation on their full scale intelligence quotient, FSIQ). Molecular genetic analysis revealed genotypes hitherto not reported, including a possible digenic inheritance state for the BCKDHA and DBT genes in one family. Treatment has been based on early implementation of emergency treatment, diet, close monitoring and even dialysis in the setting of acute metabolic decompensation. A plasma leucine ≥400 μmol/L (outside therapeutic range) was more frequently observed in infancy or during adolescence, possibly due to infections, hormonal changes or noncompliance. Children require careful management during metabolic decompensations in early childhood as this represented a key risk period in our cohort. A high level of metabolic control can be achieved through diet with early implementation of a 'sick day' regime and, in some cases, dialysis as a rescue therapy. The Irish cohort, despite largely classical phenotypes, achieved good outcomes in the NBS era, underlining the importance of early diagnosis and skilled multidisciplinary team (MDT) management. This article is protected by copyright. All rights reserved.

Purpose: Biallelic variants in LARS1, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of the clinical spectrum and genetic findings. Methods: Individuals with biallelic variants in LARS1 were included through an international, multicenter collaboration including novel and previously published patients. Clinical variables were analyzed and functional studies were performed in patient-derived fibroblasts. Results: Twenty-five individuals from 15 families were ascertained including 12 novel patients with eight previously unreported variants. The most prominent clinical findings are recurrent elevation of liver transaminases up to liver failure and encephalopathic episodes, both triggered by febrile illness. Magnetic resonance image (MRI) changes during an encephalopathic episode can be consistent with metabolic stroke. Furthermore, growth retardation, microcytic anemia, neurodevelopmental delay, muscular hypotonia, and infection-related seizures are prevalent. Aminoacylation activity is significantly decreased in all patient cells studied upon temperature elevation in vitro. Conclusion: ILFS1 is characterized by recurrent elevation of liver transaminases up to liver failure in conjunction with abnormalities of growth, blood, nervous system, and musculature. Encephalopathic episodes with seizures can occur independently from liver crises and may present with metabolic stroke.

Citizenship education has been a feature of the school curricula in many western democracies since the 1990s. Consequently, there is a proliferation of research which explores its efficacy in instilling political literacy and encouraging democratic engagement amongst pupils. Less is known however about how citizenship is taught in societies emerging from conflicts which are [at least in part] motivated by competing narratives around citizenship. This paper examines this issue within the context of Northern Ireland. Drawing on qualitative interviews with 18 post-primary citizenship teachers, it argues that whilst the curricular text for citizenship education has encouraged teachers to discuss ‘the past’ in Northern Ireland only a minority of teachers do so. The paper suggests that teachers are constrained in their attempts to explore the past by a complex interplay of factors including cultural norms of avoidance and their interpretationof the current socio-political context. The paper argues that it cannot beassumed that teachers themselves possess the critical capacities that they are expected to nurture in pupils, yet, where efforts are made to harness such professional criticality, teachers are more likely to display the confidence and skill to discuss contentious issues related to the past.

International audience; Background: Implementation of proteomics over the last decade has been an important step toward a better understanding of the complex biological systems underlying the conversion of muscle to meat. These sophisticated analytical tools have helped to reveal the biochemical pathways involved in fresh meat colour and have identified key protein biomarkers.Scope and approach: Until recently, there have been no detailed or critical studies on the role of protein biomarkers in determining meat colour. This review presents an integromics of recent muscle proteomic studies to investigate pathways and mechanisms of beef colour. A database was created from 13 independent proteomic-based studies including data on five muscles and a list of 79 proteins which were significantly correlated with colour traits. The database was subjected to a multistep analysis including Gene Ontology annotations, pathway analysis and literature mining. This report discusses the key protein biomarkers and the biological pathways associated with fresh beef colour. Biomarkers were prioritised by the frequency of identification and the need for future validation experiments is discussed.Key findings and conclusions: This review identifies six pathways involved in beef colour including energy metabolism, heat shock and oxidative stress, myofibril structure, signalling, proteolysis and apoptosis. The data-mining of the list of the putative biomarkers showed that certain proteins, such as beta-enolase (ENO3), Peroxiredoxin 6 (PRDX6), HSP27 (HSPB1), Phosphoglucomutase 1 (PGM1), Superoxide Dismutase [Cu-Zn] (SOD1) and mu-calpain (CAPN1) were consistently reported by multiple studies as being differentially expressed and having a significant role in beef colour. This integromics work proposes a list of 27 putative biomarkers of beef colour for validation using adapted high-throughput methods.

Meat color is important for consumer acceptability, with excessively dark meat often associated with consumer rejection. It is determined chromatically by pigment content (measured by hue and chroma) and achromatically by scattering of light by the microstructure (measured by lightness), the latter of which has received minimal research focus. This review discusses the individual components of the meat microstructure that cause differences in achromatic contributions to color. Differences in achromatic light scattering between light and dark extremes of meat color are most likely explained by structural attributes within the muscle cell. These differences are proposed to arise from variations in (a) transverse shrinkage of the structural lattice of the myofilaments, myofibrils, and muscles fibers, (b) longitudinal shrinkage of the sarcomere, and (c) different protein composition of the surrounding medium (sarcoplasm and extracellular space). These are discussed at a mechanistic level, in relation to six parameters of the muscle cell: (a) protein surface charge altering the myofilament spacing, (b) protein solubility, (c) sarcoplasmic protein binding to myofilaments and myofibrils, (d) integrity of the cytoskeleton and cell adhesion proteins, (e) sarcomere integrity and myofibrillar proteins, and (f) myosin denaturation and rigor bond modification. New data are presented to support the proposed role of structural elements in muscle causing achromatic light scattering and their contribution to the surface color of meat. In addition, the relationships between lightness and water holding capacity and pH are explored and the economic impact of dark meat for the meat industry is discussed.

Purpose: The study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and to determine the role of cysteine supplementation in its treatment. Methods: Individuals with biallelic (likely) pathogenic variants in TRMU were studied through an international retrospective collection of de-identified patient data. Results: In 62 individuals, including 30 previously unreported cases, we described 48 (likely) pathogenic TRMU variants, of which, 18 were novel. Of these 62 individuals, 42 were alive at a median age of 6.8 (0.6-22) years after a median follow up of 3.6 (0.1-22) years. The most frequent finding, occurring in all but 2 individuals, was liver involvement. ALF occurred only in the first year of life and was reported in 43 of 62 individuals, 11 of whom received liver transplantation. Loss-of-function TRMU variants were associated with poor survival. Supplementation with at least 1 cysteine source, typically N-acetylcysteine, improved survival significantly. Neurodevelopmental delay was observed in 11 individuals and persisted in 4 of the survivors, but we were unable to determine whether this was a primary or a secondary consequence of TRMU deficiency. Conclusion: In most patients, TRMU-associated ALF is a transient, reversible disease and cysteine supplementation improved survival. © 2022 The Authors, DMB-1805- 0002; 01GM1207; MR/S005021/1; G0800674; National Institutes of Health, NIH: 5U54-NS078059-11, 5U54-NS115198-02; Wellcome Trust, WT: 203105/Z/16/Z; PTC Therapeutics, PTC; Manchester Biomedical Research Centre, BRC; Medical Research Council, MRC: MR/W019027/1; Pathological Society of Great Britain and Ireland; National Health and Medical Research Council, NHMRC: GNT1155244, GNT1164479; Bundesministerium für Bildung und Forschung, BMBF: 01GM1906B, 01KU2016A; Newcastle upon Tyne Hospitals NHS Foundation Trust; State Government of Victoria; Astellas Pharma; Bundesministerium für Bildung und Frauen, BMBF; Medizinische Universität Innsbruck, MUI; King Salman Center for Disability Research, KSCDR: RG-2022-010; Lily Foundation, The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children’s HospitalFoundation The Royal Children's Hospital Foundation . We are grateful to the Crane, Perkins, and Miller families for their generous financial support. We thank the Kinghorn Centre for Clinical Genomics for assistance with production and processing of genome sequencing data. This project was supported by the funding from MitoCanada ( https://mitocanada.org ) as part of the Mitochondrial Functional and Integrative Next Generation Diagnostics (MITO-FIND) study. This work was supported by the European Reference Network for Hereditary Metabolic Disorders (MetabERN). S.W. received funding from ERAPERMED2019-310 Personalized Mitochondrial Medicine (PerMiM): Optimizing diagnostics and treatment for patients with mitochondrial diseases FWF 4704-B. F.S.A. is funded by the National Institutes of Health along with the North American Mitochondrial Disease Consortia (5U54-NS078059-11), the Frontiers of Congenital Disorders of Glycosylation Consortia (FCDGC, 5U54-NS115198-02), Mervar Foundation, Courage for a Cure Foundation , PTC Therapeutics , Astellas Pharma Inc, and Saol Therapeutics. R.M. and R.W.T. are funded by the Wellcome Trust Centre for Mitochondrial Research (203105/Z/16/Z), the Mitochondrial Disease Patient Cohort (United Kingdom) (G0800674), the Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), the Medical Research Council (MR/W019027/1), the Lily Foundation , the UK NIHR Biomedical Research Centre for Ageing and Age-related Disease award to the Newcastle upon Tyne Hospitals NHS Foundation Trust , and the UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children. R.W.T. also receives funding from the Pathological Society of Great Britain and Ireland. J.C. is supported by a New South Wales Office of Health and Medical Research Council Sydney Genomics Collaborative grant. We acknowledge funding from the National Health and Medical Research Council ( NHMRC ): project grant GNT1164479 (D.R.T.) and Principal Research Fellowship GNT1155244 (D.R.T.). The research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support program. This study was supported by BMBF (German Federal Ministry of Education and Research ) through the German Network for Mitochondrial Diseases ([mitoNET] grant number 01GM1906B), Personalized Mitochondrial Medicine (PerMiM) (grant number 01KU2016A), and E-Rare project GENOMIT (grant number 01GM1207) and the Bavarian State Ministry of Health and Care within its framework of DigiMed Bayern (grant number DMB-1805- 0002). The authors extend their appreciation to the King Salman Center For Disability Research for funding this work through research group number RG-2022-010 (to F.S.A.), The Chair in Genomic Medicine awarded to J.C. is generously supported by The Royal Children's HospitalFoundationThe Royal Children's Hospital Foundation. We are grateful to the Crane, Perkins, and Miller families for their generous financial support. We thank the Kinghorn Centre for Clinical Genomics for assistance with production and processing of genome sequencing data. This project was supported by the funding from MitoCanada (https://mitocanada.org) as part of the Mitochondrial Functional and Integrative Next Generation Diagnostics (MITO-FIND) study. This work was supported by the European Reference Network for Hereditary Metabolic Disorders (MetabERN). S.W. received funding from ERAPERMED2019-310 Personalized Mitochondrial Medicine (PerMiM): Optimizing diagnostics and treatment for patients with mitochondrial diseases FWF 4704-B. F.S.A. is funded by the National Institutes of Health along with the North American Mitochondrial Disease Consortia (5U54-NS078059-11), the Frontiers of Congenital Disorders of Glycosylation Consortia (FCDGC, 5U54-NS115198-02), Mervar Foundation, Courage for a CureFoundation, PTC Therapeutics, Astellas Pharma Inc, and Saol Therapeutics. R.M. and R.W.T. are funded by the Wellcome Trust Centre for Mitochondrial Research (203105/Z/16/Z), the Mitochondrial Disease Patient Cohort (United Kingdom) (G0800674), the Medical Research Council International Centre for Genomic Medicine in Neuromuscular Disease (MR/S005021/1), the Medical Research Council (MR/W019027/1), the LilyFoundation, the UK NIHR Biomedical Research Centre for Ageing and Age-related Disease award to the Newcastle upon Tyne Hospitals NHS Foundation Trust, and the UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children. R.W.T. also receives funding from the Pathological Society of Great Britain and Ireland. J.C. is supported by a New South Wales Office of Health and Medical Research Council Sydney Genomics Collaborative grant. We acknowledge funding from the National Health and Medical Research Council (NHMRC): project grant GNT1164479 (D.R.T.) and Principal Research Fellowship GNT1155244 (D.R.T.). The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support program. This study was supported by BMBF (German Federal Ministry of Education and Research) through the German Network for Mitochondrial Diseases ([mitoNET] grant number 01GM1906B), Personalized Mitochondrial Medicine (PerMiM) (grant number 01KU2016A), and E-Rare project GENOMIT (grant number 01GM1207) and the Bavarian State Ministry of Health and Care within its framework of DigiMed Bayern (grant number DMB-1805- 0002). The authors extend their appreciation to the King Salman Center For Disability Research for funding this work through research group number RG-2022-010 (to F.S.A.), Conceptualization: G.F.V. S.W.; Data Curation: G.F.V. S.W. Y.M.-G. Y.E.L. R.G.F. J.A.M. H.B. L.D.S. H.Pr. A.Pec. F.S.A. J.J.B. G.B. I.B. N.B. B.B. J.C. E.C. D.C. A.M.D. N.D. A.D.M. F.D. E.A.E. M.E. W.F. P.G. R.D.G. E.G. C.H. J.H. V.K. M.Ko. M.Ke. A.K. D.L. R.M. M.G.M. K.Mo. T.M. K.Mu. E.N. A.Pen. H.Pe. D.P.-A. A.R. R.S. F.S. M.Sc. M.Shag. M.Shar. C.S.-A. C.S. I.S. M.St. R.W.T. D.R.T. E.L.T. J.-S.W. D.W.; Methodology: G.F.V. S.W. R.G.F. J.A.M.; Visualization: G.F.V. S.W. H.B. J.S.; Writing-original draft: G.F.V. S.W.; Writing-review and editing: G.F.V. S.W. Y.M.-G. Y.E.L. R.G.F. J.A.M. H.B. L.D.S. H.Pr. A.Pec. F.S.A. J.J.B. G.B. I.B. N.B. B.B. J.C. E.C. D.C. A.M.D. N.D. A.D.M. F.D. E.A.E. M.E. W.F. P.G. R.D.G. E.G. C.H. J.H. V.K. M.Ko. M.Ke. A.K. D.L. R.M. M.G.M. K.Mo. T.M. K.Mu. E.N. A.Pen. H.Pe. D.P.-A. A.R. R.S. F.S. M.Sc. M.Shag. M.Shar. C.S.-A. C.S. I.S. M.St. R.W.T. D.R.T. E.L.T. J.-S.W. D.W. This study was conducted in accordance with the guidelines of the Institutional Review Board of the Medical University of Innsbruck and the 1975 Declaration of Helsinki.29 Participants gave written informed consent for genetic investigations according to local regulations.

Infectious illness is the biggest cause of death in children due to a physical illness, particularly in children under five years. If mortality is to be reduced for this group of children, it is important to understand factors affecting their pathways to hospital.The aim of this study was to retrospectively identify organisational and environmental factors, and individual child, family, and professional factors affecting timing of admission to hospital for children under five years of age with a serious infectious illness (SII).MethodsAn explanatory modified grounded theory mixed methods design was used in collaboration with parents. Two stages of data collection were conducted: Stage 1, interviews with 22 parents whose child had recently been hospitalised with a SII and 14 health professionals (HPs) involved in their pre-admission trajectories; Stage 2, focus groups with 18 parents and 16 HPs with past experience of SII in young children. Constant comparative analysis generated the explanatory theory.FindingsThe core category was ‘navigating uncertain illness trajectories for young children with serious infectious illness’. Uncertainty was prevalent throughout the parents’ and HPs’ stories about their experiences of navigating social rules and overburdened health services for these children. The complexity of and lack of continuity within services, family lives, social expectations and hierarchies provided the context and conditions for children’s, often complex, illness trajectories. Parents reported powerlessness and perceived criticism leading to delayed help-seeking. Importantly, parents and professionals missed symptoms of serious illness. Risk averse services were found to refer more children to emergency departments.ConclusionsParents and professionals have difficulties recognising signs of SII in young children and can feel socially constrained from seeking help. The increased burden on services has made it more difficult for professionals to spot the seriously ill child.

BackgroundDuring the COVID-19 pandemic, the first UK lockdown (March to May 2020) witnessed a dramatic reduction in children presenting to primary/emergency care, creating concern that fear of the virus was resulting in children presenting late.MethodsAn online survey was co-developed with UK parents to understand the impact of the lockdown on parents' help-seeking for, and care of, their sick/injured child(ren). The survey was advertised through social media and snowballing to parents whose children had been ill/injured during the lockdown. Analysis used descriptive statistics, SPSSv25 and thematic analysis.ResultsThe survey was fully completed by 198 UK parents. The majority asked for help (144/198): from their family doctor (78), national helplines (48) or an Emergency Department (23). Most reported that their decision-making had not changed, although how they sought help had changed. A few parents reported that the severity and duration of illness had increased because of uncertainty about and/or difficulty accessing services. Parents did not always report seeking help for symptoms rated red or amber by the Royal College of Paediatrics and Child Health. Parents reported accessing information through the internet or using information that they already had.Parent ContributionThis was a collaboration with parents from survey development to dissemination, with two parents being integral members of our research team.ConclusionsOur questionnaire was completed by parents who were not deterred from seeking help for their sick or injured children. Even for these parents, the lockdown changes to services created uncertainty about, and barriers to, accessing medical help for their children.

Phenylketonuria (PKU) is an inherited metabolic disorder affecting phenylalanine metabolism. The Irish incidence is 1:4500. Currently, there are 500 patients under the care of the National Centre for Inherited Metabolic Disorders in Temple Street Children's University Hospital. Current practice is to admit PKU patients with phenylalanine (phe) levels that are consistently out of range despite an intensive multidisciplinary team input on an outpatient basis. The aim of this study was to evaluate changes in phe levels pre, during, and post admissions and to examine if there was a sustained impact post discharge. Fifty‐six patients were admitted between January 2003 and December 2013. Patients were all

Allport’s intergroup contact theory outlines four conditions for effective contact: equal status between participants within the contact situation, cooperation, common goals, and “institutional supports (i.e. by law, custom or local atmosphere)” for contact (Allport 1954, 281). While the literature indicates that institutional support may be a particularly important condition for effective contact (Pettigrew and Tropp, 2006), its role and impact remains under-researched, particularly in studies of contact within real-world contexts. This article seeks to address this gap through a study of institutional support within a school-based contact initiative operating in two countries, Northern Ireland and North Macedonia. Known as ‘shared education’, this promotes inter-school collaboration as a means of fostering contact between pupils from different ethnic or religious backgrounds. Adopting a qualitative approach and using data collected through interviews with staff involved in four shared education projects, this study explores three aspects: the extent to which shared education demonstrates support for contact; the factors that encourage or impede supportive contact norms; and the relationship between the norms of the school and those of other authorities, particularly parents and the community.

Mucolipidosis type II (ML II) is an autosomal recessive lysosomal targeting disorder that may present with features of hyperparathyroidism. The aim of this study was to describe in detail the clinical cases of ML II presenting to a tertiary referral centre with biochemical and/or radiological features of hyperparathyroidism. There were twenty-three children diagnosed with ML II in the Republic of Ireland from July 1998 to July 2021 inclusive (a 23-year period). The approximate incidence of ML II in the Republic of Ireland is, therefore, 1 per 64,000 live births. Medical records were available and were reviewed for 21 of the 23 children. Five of these had been identified as having biochemical and/or radiological features of hyperparathyroidism. Of these five, three children were born to Irish Traveller parents and two to non-Traveller Irish parents. All five children had radiological features of hyperparathyroidism (on skeletal survey), with evidence of antenatal fractures in three cases and an acute fracture in one. Four children had biochemical features of secondary hyperparathyroidism. Three children received treatment with high dose Vitamin D supplements and two who had antenatal/acute fractures were managed with minimal handling. We observed resolution of secondary hyperparathyroidism in all cases irrespective of treatment. Four of five children with ML II and hyperparathyroidism died as a result of cardiorespiratory failure at ages ranging from 10 months to 7 years. Biochemical and/or radiological evidence of hyperparathyroidism is commonly identified at presentation of ML II. Further studies are needed to establish the pathophysiology and optimal management of hyperparathyroidism in this cohort. Recognition of this association may improve diagnostic accuracy and management, facilitate family counseling and is also important for natural history data.

Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity result in many rare autosomal recessive disorders. Due to founder effects and endogamy, most recessive disorders are caused by specific homozygous mutations unique to this population. Key clinicians and scientists with experience in managing rare disorders seen in this population have developed a de facto advisory service on differential diagnoses to consider when faced with specific clinical scenarios.Objective(s) To catalogue all known inherited disorders found in the Irish Traveller population.Methods We performed detailed literature and database searches to identify relevant publications and the disease mutations of known genetic disorders found in Irish Travellers.Results We identified 104 genetic disorders: 90 inherited in an autosomal recessive manner; 13 autosomal dominant and one a recurring chromosomal duplication.Conclusion We have collated our experience of inherited disorders found in the Irish Traveller population to make it publically available through this publication to facilitate a targeted genetic approach to diagnostics in this ethnic group.

This article contains temperature logger datasets obtained for refrigerated cartons of Australian vacuum packaged chilled beef stored under near ideal conditions (∼- 1 °C) in Australia (CONTROL) and shipped via land and sea to three destinations in China (China-1, China-2, China-3) described in detail previously [1]. Cartons were stored for 84, 98, 120 and 140 days postslaughter. Temperature data were acquired during shipping and storage using i-buttons (Thermocron-TCS, Baulkham Hills, Australia) and LogTags (TRIX-16, LogTag Australia, Baulkham Hills, Australia). Keywords: Vacuum packaged chilled beef, Storage temperature

Aim/Purpose To report the first case of Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in an Irish Traveller child in the Republic of Ireland (ROI). Methodology We describe the clinical presentation, outcome to date and genotype of a now 8 month old female infant from the Irish Traveller Community who was identified through newborn screening in Germany where she was born. Results An 8 month old girl from the Irish Traveller Community returned to Ireland and was referred to local Paediatric services by her family doctor having been diagnosed with MCADD on the National Newborn Screening Programme in Germany. Her mother had travelled to Germany for a wedding and developed placenta praevia. It was felt that it was too dangerous for her to travel back to Ireland at the time. The child was born at term by spontaneous vaginal delivery.She had a positive newborn screening test for MCADD. .Subsequent metabolic tests confirmed this diagnosis. On assessment at 8 months of age she was found to be robust, thriving with normal neurodevelopment. There have been no incidents of infection or hypoglycaemia. She has not required hospitalisation. Vaccines are up to date with no adverse incidents. She was found to have the common p.(Lys329Glu), c.985A>G pathogenic mutation of the ACADM gene. Conclusions This case highlights the success of the newborn screening programme in Germany and early medical intervention in MCADD. To our knowledge this is the first confirmed case of this recessive disorder in the highly consanginous Irish Traveller community in the ROI.

No abstract available.

Background and aims Paediatric Medicine in Ireland is growing and changing. Care is now being delivered in alliance with the ‘Hub and Spoke’ model of care. Since the introduction of Newborn Screening in Ireland in 1966 there has been an increasing need for metabolic specialist care. The National Centre for Inherited Metabolic Disorders (NCIMD) is located at the Children’s University Hospital, Temple Street and provides care for patients with Inherited Metabolic Disorders (IMDs). Due to the complexity of IMDs, multidisciplinary care is essential and is not only provided via Temple street, but now also through Pediatric Outreach Clinics. The aim of this study was to describe the establishment of the Pediatric Metabolic Outreach Clinic (PMOC) at University Hospital Limerick (UHL). Methods We describe the process involved in the establishment of the clinic, its’ location and structure and the type and number of patients seen. Results Paediatric patients with a formal diagnosis of an IMD or who were under investigation for such a diagnosis residing within the UHL catchment area were offered a review in the MOC in the Paediatric Outpatient Department at UHL in place of one of the reviews at the tertiary centre. The appointments are offered by and at the discretion of the NCIMD on a rotational basis to allow all patients living in the region the opportunity to attend and thus reduce the frequency of travel to Dublin. The PMOC comprised a full day clinic including consultation with the Metabolic Paediatrician, Specialist Dietician and Nurse. Since 2013 there have been 15 PMOCs at UHL. Patients with a variety of IMDs were seen. Conclusion With the increasing demand on Specialist Services in Ireland, outreach clinics are paramount for the future care of Paediatric patients4. Most importantly, those with IMDs in the Midwest are able to access the highest level of care closer to home.

Introduction Glutaric aciduria Type 1 (GA1), first described in 1975, has an incidence of approximately 1:56,000 in Ireland. GA1 usually presents clinically during an intercurrent illness at 3–18 months’ age with encephalopathy and dystonia, resulting in dyskinetic/spastic cerebral palsy and sometimes intellectual disability. Management of GA1 involves a low-protein diet with synthetic lysine-free/low-tryptophan protein supplement and L-carnitine treatment, with aggressive management of inter-current illnesses to prevent catabolic crisis and encephalopathy. This review assessed outcomes of high-risk (familial) screened Irish patients versus non-screened patients who presented clinically, prior to the very recent introduction of newborn screening (NBS) for GA1 in Ireland. Method Retrospective chart review of GA1 patients attending the National Centre for Inherited Metabolic Disorders (1981 – 2018). Data was collected to determine patient clinical and neurological status at diagnosis and at school age. Results 29 patients were diagnosed with and treated for GA1 during the review period (352 patient treatment years). Thirteen (45%) presented clinically and 16 (55%) were diagnosed early by ‘high-risk screen’ due to family history. Median age at diagnosis was 365 days (IQR 206–626) for those presenting clinically and 4.5 days (IQR 3–29) for those screened (p Eighteen (62%) patients were from the Irish Travelling Community of which 12 (66.7%) were diagnosed by high-risk screen compared to four of 11 (36.4%) from the non-Traveller population (P=0.111, Chi-squared). Nine of 15 patients (60%) diagnosed by high-risk screen had either radiological only or no features of GA1 at diagnosis, compared to one patient (7.7%) in the clinically presenting group (p=0.004, Chi-squared). Two of the eight patients (25%) presenting clinically who survived to school-age attended mainstream school without significant impairment versus 10 of 14 (71.4%) screened patients (p=0.035 Chi-squared). Three of eight (37.5%) clinical presenters at 5–7 years had either full motor function or a Gross Motor Function Classification System score of 1, compared with all fourteen diagnosed by high-risk screen (p=0.001, Chi-squared). Conclusion Our data supports the necessity to diagnose infants with GA1 in the newborn period and we expect that future outcomes in the Irish NBS population will be similar to this historical high-risk screening group.

Despite early diagnosis through Newborn Bloodspot Screening and strict dietary treatment, there are long-term complications of Classical Galactosaemia, including female infertility, osteopenia, and, in some cases, learning disabilities or neurological symptoms such as tremor or ataxia. Therefore, neurological symptoms may easily be attributed to an underlying diagnosis of Classical Galactosaemia. However, the coexistence of classical Galactosaemia and Friedreich’s Ataxia (FRDA) was previously reported amongst the Irish Traveller population. Classical Galactosaemia and FRDA are both autosomal recessive conditions, the gene loci for which are located on either side of the centromere of chromosome 9. FRDA is one of the most common forms of autosomal-recessive ataxia and slowly progressive; it also commonly involves the heart. We here present the clinical spectrum of 10 Irish patients currently being treated in our Metabolic Centre in whom a diagnosis of Classical Galactosaemia together with FRDA was made. All patients were diagnosed with Classical Galactosaemia through Newborn Screening first. All were diagnosed with the common Classical Galactosaemia GALT mutation Q188R/Q188R. Eight of the ten patients later presented with progressive ataxia, between the ages of 7–14 years. One child presented in cardiac failure secondary to dilated cardiomyopathy at 7 years of age. It was noted that he was not ataxic at presentation of FRDA and that he had normal tendon reflexes. Another patient who was diagnosed at 6 years of age still had an essentially normal neurological exam almost 4 years later. The diagnosis of FRDA was confirmed by detecting the common pathogenic GAA repeat expansion mutations in both alleles of the frataxin gene (FXN) in affected individuals. Taken together, neurological signs may easily be attributed to an established diagnosis of Classical Galactosaemia. However, one should be vigilant for the coexistence of Classical Galactosaemia and FRDA in a high-risk population, particularly when monitoring patients with a complex phenotype, such as a neurological or cardiac presentation.

During storage of vacuum packaged chilled beef (VPCB), lactic acid bacteria become the dominant microflora, facilitating an extended shelf life. However, at some point, (bio)chemical and organoleptic changes render the meat unacceptable. In this investigation we evaluated volatile and non-volatile metabolite changes in VPCB after 84-, 98-, 120- and 140-days storage at ~ − 1 °C. After 140-days storage, the sensory, volatile and non-volatile data did not indicate spoilage. Minimal changes in volatile signatures of collected weep and on raw and grilled steaks were measured. Changes in selected non–volatile components indicated increased proteolysis (free amino acids, carnosine) and changes in organic acids (lactic, succinic) and nucleotide metabolism. Rapid volatile profiling using proton transfer reaction mass spectrometry showed a clear progression of changes in selected compounds over the storage period. An increased concentration of ethanol and other compounds between 120 and 140 days, suggested that volatile changes may be a useful objective indicator of extended storage VPCB quality.

Arbitrary microbiological limits or noticeable organoleptic decline are mainly used to define the shelf life of vacuum packaged chilled beef (VPCB). Excellent temperature control is critical to enable a long shelf life. The robustness of export supply chains was tested by sending Australian VPCB (striploins) to three Chinese destinations and a CONTROL (Brisbane, Australia) treatment (~−1 °C). Data loggers monitored temperature during storage and meat biochemistry (pH, color, weep), aerobic plate counts, lactic acid bacteria, total volatile basic nitrogen (TVB-N) and sensory changes were measured 84, 98, 120 and 140 days postslaughter. Temperature was generally well maintained and sensory scores were not indicative of spoilage. Microbial counts did not increase from 84 to 140 days, however TVB-N increased with time and was a better predictor of sensory attributes. TVB-N was below the limit of 15 mg/100 g in all CONTROL samples but most Chinese samples exceeded this value. This study demonstrated that extended shelf life is feasible with excellent temperature control.