Recent Submissions

  • Guidelines for treating child and adolescent obesity: A systematic review.

    Tully, Louise; Arthurs, Niamh; Wyse, Cathy; Browne, Sarah; Case, Lucinda; McCrea, Lois; O'Connell, Jean M; O'Gorman, Clodagh S; Smith, Susan M; Walsh, Aisling; et al. (2022-10-12)
    Obesity is a chronic disease that compromises the physical and mental health of an increasing proportion of children globally. In high-income countries, prevalence of paediatric obesity is increasing faster in those from marginalised populations such as low-income households, suggesting the disease as one that is largely systemic. Appropriate treatment should be prioritised in these settings to prevent the development of complications and co-morbidities and manage those that already exist. An array of clinical practice guidelines are available for managing overweight and obesity in children and adolescents, but no systematic review has yet compared their quality or synthesised their recommendations. We aimed to narratively review clinical practice guidelines published in English for treating child and adolescent obesity, to identify the highest quality guidelines, and assess similarities, conflicts, and gaps in recommendations. We systematically searched academic databases and grey literature for guidelines published. We used the AGREE II tool to assess the quality, and identified nine high quality guidelines for inclusion in a narrative review of recommendations. Guidelines predominantly recommended the delivery of multi-component behaviour-change interventions aimed at improving nutrition and physical activity. Treatment outcomes were generally focussed on weight, with less emphasis on managing complications or improving quality-of-life. There was no evidence-based consensus on the best mode of delivery, setting, or treatment format. The guidelines rarely included recommendations for addressing the practical or social barriers to behaviour change, such as cooking skills or supervised physical activity. There is insufficient evidence to evaluate pharmaceutical and surgical interventions in children, and these were generally not recommended. It should be noted that this review addressed documents published in English only, and therefore the included guidelines were applicable predominantly to high-resource settings.
  • The use of music for children and adolescents living with rare diseases in the healthcare setting: a scoping review study protocol.

    Karpaviciute, Simona; Sweeney, Alison; O'Neill, Aimee; McNulty, Sandra; Kroll, Thilo; Somanadhan, Suja (2022-04-29)
    Background: Interest in the application of music in the health, social care and community contexts is growing worldwide. There is an emerging body of literature about the positive effects of music on the well-being and social relationships of children and adult populations. Music has also been found to promote social interaction, communication skills, and social-emotional behaviours of children with medically complex care needs. Despite significant advancements in the area, to the authors' knowledge, this is the first scoping review to investigate the evidence for using music therapy and music-based interventions for children living with rare diseases in the healthcare setting. Therefore, the purpose of this study is to conduct a scoping review of the literature to map out the existing studies about the use of music therapy and music-based interventions with children who have rare diseases in the healthcare setting. This review will also identify gaps in current knowledge and use of these interventions. Method: This study follows the Joanna Briggs Institute's methodology for scoping reviews, utilising Arksey and O'Malley's six-stage scoping review framework: 1) identifying the research question; 2) identifying relevant studies; 3) study selection; 4) charting the data; 5) collating, summarising and reporting results; and 6) consulting with relevant stakeholders step. A comprehensive search will be conducted in CINAHL Complete; MEDLINE Complete; Psychology and Behavioral Sciences Collection; and PubMed Central databases. A search strategy with selected inclusion and exclusion criteria will be used to reveal a wide range of evidence. This study will include quantitative, qualitative and mixed research methods studies published in English from 2010 to 2020.
  • Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the and genes.

    Molloy, B; Jones, E R; Linhares, N D; Buckley, P G; Leahy, T R; Lynch, B; Knerr, I; King, M D; Gorman, K M (2022-09-14)
    A uniparental disomy (UPD) screen using whole genome sequencing (WGS) data from 164 trios with rare disorders in the Irish population was performed to identify large runs of homozygosity of uniparental origin that may harbour deleterious recessive variants. Three instances of whole chromosome uniparental isodisomy (UPiD) were identified: one case of maternal isodisomy of chromosome 1 and two cases of paternal isodisomy of chromosome 2. We identified deleterious homozygous variants on isodisomic chromosomes in two probands: a novel p (Glu59ValfsTer20) variant in TMCO1, and a p (Pro222Leu) variant in PRKRA, respectively. The overall prevalence of whole chromosome UPiD in our cohort was 1 in 55 births, compared to 1 in ∼7,500 births in the general population, suggesting a higher frequency of UPiD in rare disease cohorts. As a distinct mechanism underlying homozygosity compared to biallelic inheritance, the identification of UPiD has important implications for family planning and cascade testing. Our study demonstrates that UPD screening may improve diagnostic yields by prioritising UPiD chromosomes during WGS analysis.
  • Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

    de Boer, Elke; Ockeloen, Charlotte W; Kampen, Rosalie A; Hampstead, Juliet E; Dingemans, Alexander J M; Rots, Dmitrijs; Lütje, Lukas; Ashraf, Tazeen; Baker, Rachel; Barat-Houari, Mouna; et al. (2022-07-14)
    Purpose: Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional spectra of ANKRD11 missense variants. Methods: We collected clinical information of individuals with ANKRD11 missense variants and evaluated phenotypic fit to KBG syndrome. We assessed pathogenicity of variants through in silico analyses and cell-based experiments. Results: We identified 20 unique, mostly de novo, ANKRD11 missense variants in 29 individuals, presenting with syndromic neurodevelopmental disorders similar to KBG syndrome caused by ANKRD11 protein truncating variants or 16q24.3 microdeletions. Missense variants significantly clustered in repression domain 2 at the ANKRD11 C-terminus. Of the 10 functionally studied missense variants, 6 reduced ANKRD11 stability. One variant caused decreased proteasome degradation and loss of ANKRD11 transcriptional activity. Conclusion: Our study indicates that pathogenic heterozygous ANKRD11 missense variants cause the clinically recognizable KBG syndrome. Disrupted transrepression capacity and reduced protein stability each independently lead to ANKRD11 loss-of-function, consistent with haploinsufficiency. This highlights the diagnostic relevance of ANKRD11 missense variants, but also poses diagnostic challenges because the KBG-associated phenotype may be mild and inherited pathogenic ANKRD11 (missense) variants are increasingly observed, warranting stringent variant classification and careful phenotyping.
  • Parental experiences of psychological interventions for recurrent abdominal pain in childhood.

    McGurgan, Alannah; Wilson, Charlotte; McGuire, Sarah (2021-12-07)
    Active components of psychological intervention for RAP remain unclear. This study involved completing interviews about parental experience of psychological intervention for RAP to ascertain how and why psychological intervention can be effective. Difficulty making sense of RAP and barriers to treatment were identified as struggles. Acceptance and containment were key overlapping mechanisms, which allowed families to develop a changed relationship with the pain and manage the impact of pain. To further develop interventions, the role of containment should be considered and acceptance-based interventions explored, given the growing evidence base in this area. Practical implications of this research are also discussed.
  • Duplication of referral, a tsunami of paper: how much does it cost the Irish health services?

    Walsh, Nicola; Malone, Lisa; Lynch, Sally Ann (2022-01-10)
    Background: Prolonged waiting lists increase costs as medical problems may become more expensive to fix. There are also hidden financial costs. Irish Clinical Genetic services have long out-patient waiting times. We noticed duplicate referrals (patients on the waiting list) being re-referred because the patient still had not been seen. These re-referrals waste consultant and administrative time, pose a clinical risk by distracting clinician time, and are costly to our health service. Methods: We prospectively collected duplicate referral data over a 3-month period (1 October 2020-31 January 2021) in order to estimate costs. We costed (1) referring consultant and administrative time; (2) stationary, postage, and storage cost; and (3) receiving consultant and administrative time processing these referrals. Results: We noted 82/986 (8%) referrals to our service over the trial period were duplicate. The mean length of time between first and duplicate referral was 306 days. In 35/82 (42.68%), a duplicate referral had already been received (e.g. 3rd or more referral for same patient). In total, we received 132 re-referral letters for 82 patients. Duplicate referrals changed triage outcome in 7/82 (8.54%) cases. Conclusion: National Treatment Purchase Fund data suggests that 271,560 patients are waiting > 12 months for both in- and out-patient public appointments on 1 January 2021. Assuming duplicate referrals are occurring across the Irish health system with equal frequency after 12 months of waiting (8% of total appointments), then we estimate a conservative cost of 757,392 € per quarter to the health service and an annual cost to the HSE of 3,029,568 €.
  • Are Janus kinase inhibitors safe and effective in treating the key clinical domains of psoriatic arthritis? A systematic review and meta-analysis.

    Harkins, Patricia; Burke, Eoghan; Swales, Catherine; Silman, Alan; Conway, Richard (2022-10-02)
    Objectives: Psoriatic arthritis (PsA), is a complex inflammatory arthropathy with a heterogenous spectrum of disease presentation. Despite the vast therapeutic armamentarium, disease control in a considerable proportion of patients is suboptimal. The aim of this study was to assess the safety and efficacy of Janus kinase inhibitors (JAKi), in the management of key clinical domains of PsA including peripheral arthritis, psoriasis, enthesitis and dactylitis. Method: Randomized placebo-controlled trials (RCTs) of JAKi in PsA were identified by a systematic literature search using EMBASE, PubMed and CENTRAL. All included studies underwent meta-analysis. Results: A total of 5 RCTs were included. Patients were randomized to tofacitinib (n = 474), filgotinib (n = 65), upadacitinib (n = 1281) or placebo (n = 937). JAKi treatment was associated with superior efficacy across all primary outcome measures vs placebo: American College of Rheumatology (ACR) 20 (risk ratio [RR] 2.10, [95% CI 1.86-2.37], P < .00001, I2 = 19%); ACR 50 (RR 3.43, [95% CI 2.37-4.96], P < .00001, I2 = 66%); ACR 70 (RR 4.57, [95% CI 1.83-11.44], P = .001, I2 = 82%); Psoriasis Area and Severity Index 75 (RR 2.96, [95% CI 2.44-3.58], P < .00001, I2 = 0%); enthesitis resolution (RR 1.82, [95% CI 1.56-2.12], P < .00001, I2 = 0%); and dactylitis resolution (RR 1.85, [95% CI 1.57-2.16], P < .00001, I2 = 0%). JAKi were associated with an overall increased risk of adverse events (RR 1.14, [95% CI 1.07-1.21], P = .0001, I2 = 0%) with increased risk of infection (RR1.23, [95% CI 1.08-1.39], P = .001, I2 = 0%) vs placebo. Conclusion: This pooled analysis demonstrates the efficacy of JAKi in treating key clinical domains of PsA. However, they are associated with an increased risk of adverse events, including infection. Further studies are required to corroborate these findings and further elucidate the safety profile. Keywords: Janus kinase inhibitors; dactylitis; enthesitis; filgotinib; psoriasis; psoriatic arthritis; tofacitinib; upadacitinib.
  • X-rays had little value in diagnosing children's abnormal skull shapes, and primary care clinicians should refer concerns to specialist teams.

    O'Sullivan, Hugh; Bracken , Shirley; Doyle, Jodie; Twomey, Eilish; Murray, Dylan J; Kyne, Louise (2020-12-03)
    Aim: This study examined the consensus between the primary care radiological diagnosis and specialist clinical diagnosis of abnormal skull shapes in children. Methods: We performed a retrospective review of children treated at the National Paediatric Craniofacial Centre at Children's Health Ireland, Dublin, Ireland. Group 1 were referred by primary care colleagues concerned about suspected abnormal skull shapes from 1 January 2015 to 30 May 2017. These included cases where they sought specialist confirmation that the skull shape was normal. Group 2 underwent surgery for craniosynostosis from 1 January 2011 to 25 October 2017. The primary care skull X-ray reports were examined for both groups to see whether they matched the specialist diagnosis. Results: Group 1 comprised 300 children, and 59 (20%) had pre-referral skull X-rays. The primary care X-ray reports and specialist diagnoses agreed in 44 (75%) cases, including 19 (43%) who had a normal skull shape. Group 2 comprised 274 children, and 63 (23%) had pre-referral skull X-rays. In this group, there was agreement in 41 (65%) diagnoses; however, the primary care X-ray reports did not diagnose craniosynostosis for the remaining 22 (35%) children. Conclusion: X-rays were of little value in diagnosing abnormal skull shapes, especially craniosynostosis, and primary care clinicians should refer concerns to specialist teams.
  • Maxillary Odontogenic Keratocyst.

    Walsh, Michael; Hussein, Mansoor A; Carter, Marguerite; Abdulrahman, Shawkat (2022-04-11)
    Case report: The Odontogenic Keratocyst (OKC) is one of the most aggressive odontogenic cysts. OKCs of the maxilla are particularly rare with less than 1% of cases reported in the literature. A 29-year-old female patient presented with pain and loose upper molars. Imaging confirmed an ectopic tooth at the osteomeatal complex and a maxillary OKC. These were endoscopically surgically removed and two teeth were encountered at the maxillary antrum. Histopathology confirmed the diagnosis of OKC of the maxilla. Surveillance with CT imaging and clinical assessment at 6 months shows no evidence of recurrence.
  • COVID-19-related occupational stress in staff in an acute paediatric teaching hospital in Ireland.

    Murray, Johanna; Adamis, Dimitrios; mcnicholas, fiona
    Background: The COVID-19 pandemic has resulted in major strains for healthcare staff. Objectives: This study aims to assess prevalence of occupational burnout (BO) during COVID-19 in staff working in an acute paediatric hospital setting. Participants: One hundred and thirty-three staff, out of 1900 eligible staff (9.6% response rate), completed an online or paper and pencil survey. Methods: The Copenhagen Burnout Inventory was used as the main outcome measure. Additional questions examined the impact of COVID-19 and restrictions on work setting and personal health. Results: The majority of respondents reported moderate or higher levels of BO for personal (n=93; 70%) and work domains (n=83; 62%). Rates of patient-related BO were lower (n=18; 13%). Higher rates of BO were found in staff with self-rated COVID-19 adverse effects on physical (n=50, 38%) and mental health (n=88, 66%) (F (2, 13.019)=16.019, p<0.001). The majority of staff had no stress reduction training at any stage in their career, either professional (60%), on the job (62%) or postpandemic (59%) work. Although most (82%) were aware of occupational health supports, few (30%) reported an intention to access these if needed; 65% (n=86) of the respondents seriously considered changing jobs in the last 6-12 months. Conclusion: High level of occupational stress among hospital staff during COVID-19, in the absence of stress reduction training is a risk factor for BO. Interventions, acceptable to the employee, are urgently needed given the likelihood of additional work demands as COVID-19 continues.
  • Exploring carer burden amongst those caring for a child or adolescent with an eating disorder during COVID-19.

    Maunder, Kristen; mcnicholas, fiona (2021-10-03)
    Background: Carer burden amongst carers of youth with an eating disorder is substantial and if not addressed can lead to negative outcomes for the patient, carer and family. The Coronavirus Disease 2019 (COVID-19) pandemic has made caring for youth with an ED even more onerous and preliminary research is beginning to emerge demonstrating the profound negative impact the pandemic is having upon individuals with EDs and their carers. MAIN: In this review, we briefly summarize what is known about carer burden in families where a young person has an ED, consider the additional impact consequent to COVID-19 and highlight the need for interventions aimed at alleviating this. Pre-COVID-19 research identifies high levels of psychological and physical strain amongst those caring for a child with an ED. Themes are beginning to emerge as to why COVID-19 may further exacerbate carer burden: (1) reduced access to ED services; (2) increased physical vulnerability and exacerbation of psychiatric co-morbidity amongst youth with EDs; (3) increased practical demands placed on carers; and (4) social isolation and decreased social support. Conclusion: The COVID-19 pandemic poses a specific threat to the mental health of youth with EDs and their carers. Given the salient role families play in caring for youth with an ED, attending to carer burden is imperative. Supporting carers through all phases of their child's ED journey by offering adaptive and flexible supportive services which accommodate time constraints, geographic barriers and possible COVID-19 spread is essential.
  • Obesity: An Independent Risk Factor for Complications in Anterior Lumbar Interbody Fusion? A Systematic Review.

    feeley, aoife; McDonnell, Jake; Feeley, Iain; Butler, Joseph (2022-02-22)
    Objectives: Raised patient BMI is recognised as a relative contraindication to posterior lumbar interbody fusion (PLIF) due to the anaesthetic challenges, difficult positioning and increased intraoperative and postoperative complications, with the relative risk rising in patients with a BMI >25 kg/m2. The impact of obesity defined as a BMI > 30 kg/m2 on Anterior Lumbar Interbody Fusion (ALIF) outcomes is not yet established. The aim of this review was to evaluate if the presence of a raised BMI in patients undergoing ALIF procedures was an independent risk factor for intra- and postoperative complications. Methods: A systematic review of search databases PubMed; Google Scholar and OVID Medline was made to identify studies related to complications in patients with increased body mass index during anterior lumbar interbody fusion. PRISMA guidelines were utilised for this review. Complication rates in raised BMI patient cohort was compared to normal BMI complication rates with meta-analysis where available. Results: 315 articles returned with search criteria applied. Six articles were included for review, with 2190 patients included for analysis. Vascular complications in obese vs. non-obese patients undergoing the anterior approach demonstrate no significant difference in complication rates (P = .62; CI = -.03-.02). Obesity is found to result in an increased rate of overall complications (P = .002; CI = .04-.16). Conclusions: Obesity was demonstrated to have an impact on overall complication rates in Anterior Lumbar Interbody Fusion procedures, with postoperative complications including wound infections and lower fusion rates more common in patients in increased BMIs. Increased focus on patient positioning and reporting of outcomes in this patient cohort is warranted to further evaluate perioperative complications.
  • Stress level assessment among health care workers involved in the management of critically ill COVID-19 patients.

    Aisa, Tharwat; Diviney, Dara; Thomas, Jubil; Al Qadheeb, Nada; Abdelbaky, Moamen; Afify, Hosam; Yasawy, Mustafa; Mahmoud, Mohamad; Abdallah, Ahmed; Bashir, Asma; et al. (2021-07-31)
    Background: Intensive care health care workers (HCWs) are frontlines of this crisis as they deal with critically ill COVID-19 patients which can potentially affect their mental well-being and causes different levels of stress. Aim: To determine the prevalence of stress among HCWs involved in the management of critically ill COVID-19 patient, identify the factors associated with stress, and highlight the availability of psychological support provided to HCWs. Methods: A cross-sectional multicenter, international study using a web-based questionnaire of 27 questions including the Perceived Stress Scale-10 (PSS-10) for assessment of stress level. Questions to identify factors associated with stress, the psychological support provided, and the sociodemographic characteristics were included. Results: We received a total 1649 responses from 59 countries: 550 (34%) were from Europe, 525 (32.36%) from Asia, 283 (17.44%) from Africa, 177 (11%) from America, and 88 (5.42%) from Australia. The average stress level was 22 points on the PSS denoting moderate stress in 1327 (81.8%) respondents, while 239 (14.73%) respondents had a severe level of stress. Female gender, working in high capacity units and remote areas in addition to lack of psychological support, was significantly associated with stress in our study. Conclusion: Stress level was moderate to severe among intensive care HCWs during this pandemic, and many factors were associated with stress emphasizing the importance of psychological support during that unprecedented pandemic.
  • COVID-19 related occupational stress in teachers in Ireland.

    Minihan, Elisha; Adamis, Dimitrios; Dunleavy, Michele; Martin, Angela; Gavin, Blanaid; mcnicholas, fiona (2021-12-21)
    Moderate or high levels of personal burnout was reported by 82% (n = 202) of the sample and 79% (n = 193) reported work burnout. COVID-19 related adverse effects were reported by teachers on physical (43%) and mental health (67%), with deterioration in eating (34%), sleeping (70%) and alcohol use (33%). 100 (42%) participants felt unable to keep safe at work. Low levels of job satisfaction were present (66%), negatively correlating with burnout scores (rs=-0.405, p<.01). 142 (58%) teachers had seriously considered changing jobs in the previous 6-12 months.
  • The cost of cancer care: how far would you go for a trial?

    Fitzpatrick, Orla; Murphy, Catherine; Duignan, Erica; Egan, Keith; Hennessy, Bryan T; Grogan, Liam; Murphy, Adrian; Breathnach, Oscar S; Naidoo, Jarushka; Morris, Patrick G (2022-01-17)
    Background: Clinical trials are often considered the gold standard in cancer care. However, patients face barriers in trial participation including distances to cancer centres and personal costs including changing employment status, cost of medications, inpatient admissions, and parking tariffs. Aim: Our aim was to compare the distances patients travelled for clinical trials compared to those receiving standard systemic anticancer therapy (SACT). We also investigated the additional costs associated with this. Methods: This was a retrospective review of electronic patient medical records. The distance from the patients' home address to Beaumont was calculated as a one-way journey in kilometres. Patients attending for clinical trials were compared to those receiving standard of care SACT. Results: A total of 271 patients receiving standard SACT over a 5-day period and 111 patients enrolled on 24 clinical trials were included. The median one-way distance travelled by patients enrolled in clinical trials was 41.4 km, compared to 14 km in those patients' receiving standard of care SACT. The median estimated cost was €13 vs €4.20 for those enrolled on clinical trials compared to those receiving standard of care treatment, respectively. Conclusion: Patients enrolled on clinical trials often travel more than twice as far to receive their anti-cancer treatment compared to those receiving standard of care SACT and incur an increased cost of travel expenses.
  • Motivators and barriers to blood donation among potential donors of African and Caucasian ethnicity.

    Fogarty, Helen; Sardana, Muskan; Sheridan, Luke; Chieng, Phoebe; Kelly, Sarah; Ngwenya, Noel; Sheehan, Ciara; Morris, Kieran; Tuohy, Emma (2022-06-12)
    Background: Minority blood donation, especially from individuals of African ethnicity, is a focus for many countries with diverse populations. As the need for antigen-negative RBC transfusions for patients with Sickle Cell Disease (SCD) continues to grow, inclusion of more African blood donors is essential to ensure this demand is met. Materials and methods: This study aims to explore barriers and motivators to blood donation and awareness of SCD among potential donors of diverse ethnic backgrounds in Ireland. Following ethical approval, patients attending the National Sickle Cell Disease and Thalassemia service at St James's Hospital were invited to share an online anonymous survey within their local communities to achieve snowball-sampling. Results: 387 respondents completed the survey, including 311 non-donors (median age 25 years, 67% female). Ethnic backgrounds included: African or African-Irish (59%), White or Caucasian (25%), Asian (8%), Hispanic or Latino (3%), Middle Eastern (3%), Multiracial or Biracial (2%). The most commonly identified barrier overall was lack of information on blood donation. African respondents were significantly more likely to report lack of information and malaria-related barriers than Caucasians. Motivators also varied across ethnic groups, with African respondents more likely to donate to help someone within their own community or for religious motivators. Awareness of SCD was higher among African respondents. Discussion: While some barriers to blood donation are shared across all ethnic groups including lack of information, notable differences exist between Caucasian and African respondents. Specific actions to recruit and retain African blood donors should focus on these key areas.
  • Obstetric Outcomes in Women with Rheumatic Disease and COVID-19 in the Context of Vaccination Status.

    Maguire, Sinead; Al-Emadi, Samar; Alba, Paula; Aguiar, Mathia Cecilia; Lawati, Talal Al; Alle, Gelsomina; Bermas, Bonnie; Bhana, Suleman; Branimir, Anic; Bulina, Inita; et al. (2022-09-19)
    Objective: To describe obstetric outcomes based on COVID-19 vaccination status, in women with rheumatic and musculoskeletal diseases (RMDs) who developed COVID-19 during pregnancy. Methods: Data regarding pregnant women entered into the COVID-19 Global Rheumatology Alliance registry from 24 March 2020-25 February 2022 were analysed. Obstetric outcomes were stratified by number of COVID-19 vaccine doses received prior to COVID-19 infection in pregnancy. Descriptive differences between groups were tested using the chi -square or Fisher's exact test. Results: There were 73 pregnancies in 73 women with RMD and COVID-19. Overall, 24.7% (18) of pregnancies were ongoing, while of the 55 completed pregnancies 90.9% (50) of pregnancies resulted in livebirths. At the time of COVID-19 diagnosis, 60.3% (n = 44) of women were unvaccinated, 4.1% (n = 3) had received one vaccine dose while 35.6% (n = 26) had two or more doses. Although 83.6% (n = 61) of women required no treatment for COVID-19, 20.5% (n = 15) required hospital admission. COVID-19 resulted in delivery in 6.8% (n = 3) of unvaccinated women and 3.8% (n = 1) of fully vaccinated women. There was a greater number of preterm births (PTB) in unvaccinated women compared with fully vaccinated 29.5% (n = 13) vs 18.2%(n = 2). Conclusion: In this descriptive study, unvaccinated pregnant women with RMD and COVID-19 had a greater number of PTB compared with those fully vaccinated against COVID-19. Additionally, the need for COVID-19 pharmacological treatment was uncommon in pregnant women with RMD regardless of vaccination status. These results support active promotion of COVID-19 vaccination in women with RMD who are pregnant or planning a pregnancy.
  • Persistent endotheliopathy in the pathogenesis of long COVID syndrome.

    Fogarty, Helen; Townsend, Liam; Morrin, Hannah; Ahmad, Azaz; Comerford, Claire; Karampini, Ellie; Englert, Hanna; Byrne, Mary; Bergin, Colm; O'Sullivan, Jamie M; et al. (2021-09-12)
    Background: Persistent symptoms including breathlessness, fatigue, and decreased exercise tolerance have been reported in patients after acute SARS-CoV-2 infection. The biological mechanisms underlying this "long COVID" syndrome remain unknown. However, autopsy studies have highlighted the key roles played by pulmonary endotheliopathy and microvascular immunothrombosis in acute COVID-19. Objectives: To assess whether endothelial cell activation may be sustained in convalescent COVID-19 patients and contribute to long COVID pathogenesis. Patients and methods: Fifty patients were reviewed at a median of 68 days following SARS-CoV-2 infection. In addition to clinical workup, acute phase markers, endothelial cell (EC) activation and NETosis parameters and thrombin generation were assessed. Results: Thrombin generation assays revealed significantly shorter lag times (p < .0001, 95% CI -2.57 to -1.02 min), increased endogenous thrombin potential (p = .04, 95% CI 15-416 nM/min), and peak thrombin (p < .0001, 95% CI 39-93 nM) in convalescent COVID-19 patients. These prothrombotic changes were independent of ongoing acute phase response or active NETosis. Importantly, EC biomarkers including von Willebrand factor antigen (VWF:Ag), VWF propeptide (VWFpp), and factor VIII were significantly elevated in convalescent COVID-19 compared with controls (p = .004, 95% CI 0.09-0.57 IU/ml; p = .009, 95% CI 0.06-0.5 IU/ml; p = .04, 95% CI 0.03-0.44 IU/ml, respectively). In addition, plasma soluble thrombomodulin levels were significantly elevated in convalescent COVID-19 (p = .02, 95% CI 0.01-2.7 ng/ml). Sustained endotheliopathy was more frequent in older, comorbid patients, and those requiring hospitalization. Finally, both plasma VWF:Ag and VWFpp levels correlated inversely with 6-min walk tests. Conclusions: Collectively, our findings demonstrate that sustained endotheliopathy is common in convalescent COVID-19 and raise the intriguing possibility that this may contribute to long COVID pathogenesis.
  • Maternal dietary quality during pregnancy and child appetitive traits at 5-years-old: Findings from the ROLO longitudinal birth cohort study.

    Delahunt, Anna; Conway, Marie C; Callaghan, Shauna L; O'Brien, Eileen C; Geraghty, Aisling A; O'Reilly, Sharleen L; McDonnell, Ciara M; Mehegan, John; McAuliffe, Fionnuala M (2022-08-31)
    Maternal diet during pregnancy is an important determinant of birth outcomes and offspring health. The relationship between maternal diet quality during pregnancy and the development of appetitive traits in early childhood has not been extensively researched. We examined associations of maternal diet quality during pregnancy with child appetitive traits at 5 years old. This is a secondary analysis of the ROLO longitudinal birth cohort study. We assessed maternal diet during pregnancy using 3-day food diaries and evaluated diet quality using the Alternative Healthy Eating Index, modified for pregnancy (AHEI-P). Children's appetitive traits at 5-years-old were assessed using the Child Eating Behaviour Questionnaire (CEBQ) (n = 306). Average AHEI-P score over trimesters was calculated and stratified into tertiles. Maternal and child characteristics were examined across AHEI-P tertiles. Multiple linear regression was conducted to explore associations between maternal AHEI-P scores in each trimester and child appetitive traits at 5-years-old. Women with low AHEI-P scores were younger at childbirth and had higher BMI. In adjusted linear regression maternal AHEI-P was negatively associated with child 'Desire to Drink' (Trimester 1: B = -0.014, 95% CI = -0.025, -0.002, p = 0.017; Trimester 2: B = -0.013, 95% CI = -0.025, -0.001, p = 0.035). Trimester 3 AHEI-P was not associated with any child appetitive traits. Maternal diet quality in pregnancy may provide an early opportunity to positively influence the development of offspring's appetitive traits.
  • Usability and Engagement Testing of mHealth Apps in Paediatric Obesity: A Narrative Review of Current Literature.

    Arthurs, Niamh; Tully, Louise; O'Malley, Grace; Browne, Sarah (2022-01-27)
    Mobile health (mHealth) platforms have become increasingly popular for delivering health interventions in recent years and particularly in light of the COVID-19 pandemic. Childhood obesity treatment is an area where mHealth interventions may be useful due to the multidisciplinary nature of interventions and the need for long-term care. Many mHealth apps targeting youth exist but the evidence base underpinning the methods for assessing technical usability, user engagement and user satisfaction of such apps with target end-users or among clinical populations is unclear, including for those aimed at paediatric overweight and obesity management. This review aims to examine the current literature and provide an overview of the scientific methods employed to test usability and engagement with mHealth apps in children and adolescents with obesity. A narrative literature review was undertaken following a systematic search. Four academic databases were searched. Inclusion criteria were studies describing the usability of mHealth interventions for childhood obesity treatment. Following the application of inclusion and exclusion criteria, fifty-nine articles were included for full-text review, and seven studies met the criteria for usability and engagement in a clinical paediatric population with obesity. Six apps were tested for usability and one for engagement in childhood obesity treatment. Sample sizes ranged from 6-1120 participants. The included studies reported several heterogenous measurement instruments, data collection approaches, and outcomes. Recommendations for future research include the standardization and validation of instruments to measure usability and engagement within mHealth studies in this population.

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