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Gastric outlet obstruction with prostaglandin E1 infusion in congenital diaphragmatic hernia
Due to its non-selective pulmonary vasodilator effect and its role in offloading the pressure on the right ventricle via the ductus arteriosus, PGE1 has been increasingly used in the management of neonatal pulmonary hypertension, especially in those patients with congenital diaphragmatic hernia (CDH).1 2 Gastric outlet obstruction (GOO) has been described as a side effect of PGE1 in populations with congenital heart disease, most commonly secondary to hypertrophic pyloric stenosis (HPS) or antral foveolar hyperplasia (AFH).3 To describe our experience with the use of PGE1 in the CDH population and occurrence of GOO, we conducted a single-centre retrospective study of all neonates with CDH admitted to The Royal Children’s Hospital neonatal intensive care unit (NICU) during the years 2010–2021. [...]there were no statistical differences in duration of treatment with inotropes, need for inhaled nitric oxide (iNO) or incidence of death. [...]there were significantly more hours of mechanical ventilation (p=0.04, coefficient 0.001, 95% CI 0.00002 to 0.002), days of inpatient stay (p=0.002, coefficient 0.002, 95% CI 0.0009 to 0.004) and duration of PGE1 therapy (p=0.009, coefficient 0.002, 95% CI 0.0005 to 0.003) in the GOO group (table 1).Table 1 PGE1 without GOO n=64 PGE1 with GOO n=6 Female, n (%) 25 (39) 4 (66.6) P=0.09 GA (weeksdays), median (range) 384 (375–392) 39 (356–395) P=0.75 Birth weight (g), mean (SD) 3083.9 (510.4) 2963 (174.7) P=0.562 Caesarean delivery, n (%) 28 (43.7) 3 (50) P=0.38 Left CDH, n (%) 56 (87.5) 4 (66.6) P=0.08 Antenatal diagnosis, n (%) 48 (75) 6 (100) P=0.08 ECLS, n (%) 10 (15.6) 0 (0) P=0.14 iNO, n (%) 57 (90) 5 (83.3) P=0.57 Invasive ventilation (hours), median (IQR) 431 (147–1703) 1516 (1071–1692) P=0.04 Coefficient 0.001 95% CI (0.00002 to 0.002) Inotropic support (hours), median (IQR) 428 (97–2083) 1104 (339–1795) P=0.072 PGE1 infusion (hours), median (IQR) 300 (74–1530) 955.5 (672–1192) P=0.009 Coefficient=0.002 95% CI (0.0005 to 0.003) Length of stay (days), mean (SD) 49.6 (36.2) 98.6 (35.5) P=0.002 Coefficient 0.002 95% CI (0.0009 to 0.004) Death, n (%) 14 (21.8) 2 (33.3) P=0.73 CDH, congenital diaphragmatic hernia; ECLS, extracorporeal life support; GA, gestational age; GOO, gastric outlet obstruction; iNO, inhaled nitric oxide; PGE1, prostaglandin E1.
Journal Article
Extubation generates lung volume inhomogeneity in preterm infants
ObjectiveTo evaluate the feasibility of electrical impedance tomography (EIT) to describe the regional tidal ventilation (VT) and change in end-expiratory lung volume (EELV) patterns in preterm infants during the process of extubation from invasive to non-invasive respiratory support.DesignProspective observational study.SettingSingle-centre tertiary neonatal intensive care unit.PatientsPreterm infants born <32 weeks’ gestation who were being extubated to nasal continuous positive airway pressure as per clinician discretion.InterventionsEIT measurements were taken in supine infants during elective extubation from synchronised positive pressure ventilation (SIPPV) before extubation, during and then at 2 and 20 min after commencing nasal continuous positive applied pressure (nCPAP). Extubation and pressure settings were determined by clinicians.Main outcome measuresGlobal and regional ΔEELV and ΔVT, heart rate, respiratory rate and oxygen saturation were measured throughout.ResultsThirty infants of median (range) 2 (1, 21) days were extubated to a median (range) CPAP 7 (6, 8) cm H2O. SpO2/FiO2 ratio was a mean (95% CI) 50 (35, 65) lower 20 min after nCPAP compared with SIPPV. EELV was lower at all points after extubation compared with SIPPV, and EELV loss was primarily in the ventral lung (p=0.04). VT was increased immediately after extubation, especially in the central and ventral regions of the lung, but the application of nCPAP returned VT to pre-extubation patterns.ConclusionsEIT was able to describe the complex lung conditions occurring during extubation to nCPAP, specifically lung volume loss and greater use of the dorsal lung. EIT may have a role in guiding peri-extubation respiratory support.
Journal Article
What’s so good about participation? Politics, ethics and love in Learning Together
This article tells the story of our movement towards using participatory approaches in an action research project aiming to understand the experiences and impacts of belonging to learning communities that span prison and university walls. We draw on our experiences over the past 5 years of building learning communities involving students from higher education and criminal justice organisations and describe some of our attempts to provide creative opportunities for participation and voice within research. We highlight some of the benefits that we have seen through adopting these approaches, as well as some of the discomforts that we, and our students, have experienced. We use these examples to question for whom we think participation ‘works’, whether participation is always good, or whether it can, rather, sometimes cause harm, and the extent to which participation addresses some of the ethical concerns levelled at more traditional approaches to social science research, including matters of power, purpose, positioning and personhood. Using the work of Cantillon and Lynch as an orienting framework, in the conclusions we return to their arguments to suggest that the benefits of participatory action research might not be in alleviating these ethical concerns, but rather in establishing affective links between people occupying different roles within research, thus imbuing the process with love. This has the potential to transform all of the actors, and the research itself.
Journal Article
Delayed presentation of a malpositioned central venous access device (CVAD) in a neonate
Position was confirmed on a single antero-posterior (AP) abdominal radiograph per local practice, with projection of the tip adjacent to L4/L5 vertebrae at the level of the common iliac vein (figure 2). Table 1 Blood results Name Level Reference range Units pH 7.19 7.35–7.45 Carbon dioxide (CO2) 50 35–46 mm Hg Base excess −9 −2 to +3 mmol/L Bicarbonate (HCO3) 19 22–28 mmol/L Lactate 1.3 0.4–2 mmol/L Sodium (Na) 128 135–145 mmol/L On day 18, left leg and flank oedema evolved with difficulty infusing via the PICC line. While PICC lines deliver essential, lifesaving treatment to neonates, they also carry substantial risks.1 2 It is precisely because of these risks that so many national and regional centres have guidelines and frameworks of practice designed for clinicians who use central venous access devices (CVADs).3–7 PICCs inserted into the lower limbs should ideally thread without resistance, follow a smooth course without kinks or wiggles and sit to the right of the spine, above the level of the renal vessels at L2 but below the level of the cardiac silhouette at T9.1 4–6 On retrospective review, the single AP radiograph taken following insertion of the PICC line did not adhere to all of these principles, and the line malposition was not recognised. Central line Care- PICC insertion in the neonate. 2019.
Journal Article
The collection and integration of data on migrants in health information systems: evidence from Ireland
Background
Addressing disparities and promoting health for migrants requires policies and practices that are grounded in comprehensive and accurate health data. Health Information Systems (HIS) play a crucial role in this process. However, data on migrants is often incomplete and of poor quality in European HIS. A recent scoping review identified a gap in research on strengthening HIS for data on the health of migrants in Ireland, a country where one in five of the population has been born abroad. This study aims to address this gap.
Methods
Using WHO European Region technical guidance on the collection and integration of data on the health of refugees and migrants, we mapped national data repositories (
N
= 128 repositories) including administrative sources, censuses, surveys and patient registries. We identified repositories collecting migration-related variables, such as country of birth, citizenship, and language spoken. For relevant repositories, information was extracted on the variables collected, the use of inclusive data collection strategies such as multilingual surveys, whether there was a procedure to access the data for secondary data analysis, the potential for data linkage and how the data had been used.
Results
Of the 128 data repositories, 28 (22%) recorded migration-related variables. The majority of these repositories (18/28) recorded country of birth, followed by nationality (6/28). Four repositories recorded language(s) spoken and only two national surveys translated the survey instrument into different languages. No examples were identified of migration-related variables being used or analysed in national or regional disease registries and there was limited use of data linkage.
Conclusions
The collection and integration of data on the health of migrants in HIS in Ireland is fragmented. Enhancing data collection practices, for example by using multilingual surveys and inclusive sampling strategies with participatory approaches, could improve the representation of migrant populations and the quality of data collected. Adapting policy considerations from WHO at a country level provides an opportunity to standardise data collection and establish a robust evidence base to inform equitable health policies and practices for migrants.
Journal Article
CreoleVal: Multilingual Multitask Benchmarks for Creoles
Creoles represent an under-explored and marginalized group of languages, with few available resources for NLP research. While the genealogical ties between Creoles and a number of highly resourced languages imply a significant potential for transfer learning, this potential is hampered due to this lack of annotated data. In this work we present
, a collection of benchmark datasets spanning 8 different NLP tasks, covering up to 28 Creole languages; it is an aggregate of novel development datasets for reading comprehension relation classification, and machine translation for Creoles, in addition to a practical gateway to a handful of preexisting benchmarks. For each benchmark, we conduct baseline experiments in a zero-shot setting in order to further ascertain the capabilities and limitations of transfer learning for Creoles. Ultimately, we see
as an opportunity to empower research on Creoles in NLP and computational linguistics, and in general, a step towards more equitable language technology around the globe.
Journal Article
Further delineation of the KAT6B molecular and phenotypic spectrum
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report on the findings in a previously unreported group of 57 individuals with suggestive features of SBBS or GPS. Likely causative variants have been identified in 34/57 patients and were commonly located in the terminal exons of KAT6B. Of those where parental samples could be tested, all occurred de novo. Thirty out of thirty-four had truncating variants, one had a missense variant and the remaining three had the same synonymous change predicted to affect splicing. Variants in GPS tended to occur more proximally to those in SBBS patients, and genotype/phenotype analysis demonstrated significant clinical overlap between SBBS and GPS. The de novo synonymous change seen in three patients with features of SBBS occurred more proximally in exon 16. Statistical analysis of clinical features demonstrated that KAT6B variant-positive patients were more likely to display hypotonia, feeding difficulties, long thumbs/great toes and dental, thyroid and patella abnormalities than KAT6B variant-negative patients. The few reported patients with KAT6B haploinsufficiency had a much milder phenotype, though with some features overlapping those of SBBS. We report the findings in a previously unreported patient with a deletion of the KAT6B gene to further delineate the haploinsufficiency phenotype. The molecular mechanisms giving rise to the SBBS and GPS phenotypes are discussed.
Journal Article
Identifying barriers and opportunities to facilitate the uptake of whole genome sequencing in paediatric haematology and oncology practice
Background
The clinical utility of whole genome sequencing (WGS) in paediatric cancer has been demonstrated in recent years. WGS has been routinely available in the National Health Service (NHS) England for all children with cancer in England since 2021, but its uptake has been variable geographically. To explore the underlying barriers to routine use of WGS in this population across England and more widely in the United Kingdom (UK) and the Republic of Ireland (ROI), a one-day workshop was held in Cambridge, United Kingdom in October 2022.
Methods
Following a series of talks, delegates participated in open, round-table discussions to outline local and broader challenges limiting routine WGS for diagnostic work-up for children with cancer in their Principal Treatment Centres (PTCs) and Genomic Laboratory Hubs (GLHs). Within smaller groups, delegates answered structured questions regarding clinical capability, education and training needs, and workforce competence and requirements. Data was recorded, centrally collated, and analysed following the event using thematic analysis.
Results
Sixty participants attended the workshop with broad representation from the 20 PTCs across the UK and ROI and the seven GLHs in England. All healthcare professionals involved in the WGS pathway were represented, including paediatric oncologists, clinical geneticists, clinical scientists, and histopathologists. The main themes highlighted by the group in ensuring equitable access to WGS identified were: lack of knowledge equity between NHS trusts, with a perception of WGS being for research only; and perception of lack of financial support for the clinical process surrounding WGS, including lack of time to take informed consent from patients. The latter also included limited trained staff available for data interpretation, affecting the turnaround time for reporting. Finally, the need for an integrated digital pathway to order, track, and return data to clinicians was highlighted.
Conclusion
At the workshop, the general motivation for including WGS in the diagnostic work up for children with cancer was high throughout the UK, however a perceived lack of resources and education opportunities limit the widespread use of this commissioned assay. This workshop has led to some recommendations to increase access to WGS in this population in England and more widely in the devolved national of the UK and the ROI.
Journal Article