13 'Dont let it hold you back: the experience of transition to adulthood in young people with primary ciliary dyskinesia

BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic ciliopathy characterised by recurrent respiratory infections, sinonasal disease, reduced hearing, infertility and situs inversus. It is a chronic condition with no curative therapy. The aim of this research was to understand the experiences of young people with PCD as they transition into adulthood and to adult healthcare services.MethodsAn interpretative phenomenological analytical method was applied. Semi-structured virtual interviews were conducted with three participants aged 18–24 years who were enrolled via PCD Support UK.ResultsFour interconnected group experiential themes were identified:The first theme was ‘Reconceptualising a stigmatised identity’. Participants demonstrated concealment of their condition and experienced both external and internalised stigmatisation. However, PCD was often reconceptualised as positive and contributory to their identities.The second theme was ‘Sharing the journey to independence’. Support was sought for and found in family, friends and others with shared experiences.The third theme was ‘Entering adulthood with newfound autonomy’. The transition to adulthood was marked by recognition of their own responsibility and the ability to make informed choices about their lives. They sought success in their chosen pathways and mitigated risks arising from their condition in realising these goals.The fourth theme was ‘Anticipating an uncertain future’. Participants shared a concerted yearning to succeed against a future that was entangled with uncertainty in view of their health.ConclusionTransition for young people with PCD is a complex and dynamic period marked by identity-formation, creating systems of support, and becoming an autonomous adult. They remained committed to their hopes and desires and refused to be ‘held back’. The improved understanding of these experiences can be applied to future practice that eases the process of transition, provides appropriate support, and identifies areas for further qualitative research.

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Marzo 2024

Abstract 13: Prior Bariatric Surgery is Associated With Reduced Risk of Recurrent Stroke Among Elderly Obese Stroke Survivors: A National Inpatient Sample Study (2016-2019)

Stroke, Volume 55, Issue Suppl_1, Page A13-A13, February 1, 2024. Introduction:The paucity of large-scale data exploring the effect of prior bariatric surgery on recurrent stroke outcomes in elderly obese stroke survivors led us to address the gap, with an emphasis on the risk of recurrent stroke and its trends.Methods:A retrospective study was conducted using National Inpatient Sample data from 2016-2019. Elderly obese stroke survivors ( > 65 years) having a recurrent acute ischemic stroke (AIS), with or without prior bariatric surgery (PBS), were identified using ICD-10 codes. We compared recurrent stroke trends, demographic characteristics, and comorbidities between the cohorts, employing multivariable and other statistical analyses.Results:The study included 643,505 elderly obese stroke survivors, of which 1.8% (11,820) had PBS. Both groups (PBS vs. no PBS) were predominantly female (59.7% vs. 73.7%), identified as white (76.5% vs. 83.8%), and covered by Medicare (91.7% vs. 90.7%). Despite being the most prevalent comorbidity, hypertension (83.6% vs. 83.2%) was not significantly associated with bariatric surgery status, followed by hyperlipidemia (68.2% vs. 61.6%), diabetes mellitus (60% vs. 52.2%), tobacco use (37.5% vs. 36.4%), prior myocardial infarction (12.8% vs. 15.7%), peripheral vascular disease (8.8% vs. 11.9%), valvular disease (3.9% vs. 3.5%), and drug abuse (1.6% vs. 1.1%). Between 2016 and 2019, recurrent AIS decreased in the PBS group (from 4% to 2.9%, p=0.035) whilst remaining stable in the other group (4.4% to 4.2%, p=0.064). The PBS group exhibited a significantly lower adjusted odds ratio for recurrent AIS (aOR: 0.77, 95% CI: 0.60 – 0.98).Conclusion:Prior bariatric surgery in elderly obese stroke survivors was associated with a 23% lower risk of recurrent AIS and a decreasing trend of AIS recurrence over time. These findings could influence clinical practice and contribute to developing secondary prevention strategies for recurrent stroke among these patients.

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Febbraio 2024

Abstract 12591: 12,13-dihome and Noradrenaline Are Associated With the Occurrence of Acute Myocardial Infarction in Patients With Type 2 Diabetes Mellitus

Circulation, Volume 148, Issue Suppl_1, Page A12591-A12591, November 6, 2023. Introduction:Acute myocardial infarction (AMI) is the most prevalent cause of mortality and morbidity in patients with type 2 diabetes mellitus (T2DM). However, strict blood glucose control does not always prevent the development and progression of AMI.Aims:Therefore, the present study aimed to explore potential new biomarkers associated with the occurrence of AMI in T2DM patients.Methods:A total of 82 participants were recruited, including the control group (n=28), T2DM without AMI group (T2DM, n=30) and T2DM with initial AMI group (T2DM+AMI, n=24). The untargeted metabolomics using LC-MS analysis was performed to evaluate the changes in serum metabolites. Then, candidate metabolites were determined using ELISA method in the validation study (n=126/T2DM group, n=122/T2DM+AMI group).Results:The results showed that 146 differential serum metabolites were identified among the control, T2DM and T2DM+AMI, Moreover, 16 differentially-expressed metabolites were significantly altered in T2DM+AMI compared to T2DM. Furthermore, three candidate differential metabolites, 12,13-diHOME, noradrenaline (NE) and estrone sulfate (ES), were selected for validation study. Serum levels of 12,13-diHOME and NE in T2DM+AMI were significantly higher than those in T2DM. Multivariate logistic analyses showed that 12,13-diHOME (OR, 1.491; 95% CI, 1.230-1.807,P

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Novembre 2023

Abstract 16549: Longitudinal Associations of Accelerometer-Based Sedentary Time and Physical Activity With Blood Pressure Progression From Childhood Through Young Adulthood: A 13-year Mediation and Isotemporal Substitution Study of 2513 Children

Circulation, Volume 148, Issue Suppl_1, Page A16549-A16549, November 6, 2023. Introduction:Randomized controlled trials in the young population concluded that moderate-to-vigorous physical activity (MVPA) was ineffective in lowering blood pressure (BP). The associations of cumulative sedentary time (ST), light physical activity (LPA), and MVPA with BP from ages 11 – 24 years, the isotemporal substitution of ST with LPA or MVPA, and the mediation path through which movement behaviour exact their impact on BP was examined.Hypothesis:Increased ST would be associated with increased BP while cumulative LPA and MVPA would be associated with decreased BP.Methods:Altogether 2513 children (61% female) from the Avon Longitudinal Study of Parents and Children birth cohort, UK who had data on at least one time-point measure of accelerometer-based movement behaviour across the follow-up and complete BP measures at ages 11, 15, and 24 years clinic visits were studied. MVPA was categorized into ≥60mins/day or less according to WHO’s PA guidelines. Longitudinal associations and isotemporal substitutions were examined with generalized linear-mixed effect models whereas the mediation path was examined using structural equation models, adjusting for cardiometabolic and other lifestyle factors.Results:After full adjustment, a 1-minute cumulative ST from ages 11-24 years was positively associated with increased systolic BP (0.009 mmHg [95% CI 0.007 – 0.011]; p

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Novembre 2023

Abstract 14250: ND-13, a Small DJ-1 Derived Peptide, Confers Cardioprotection by Targeting Mitochondrial Homeostasis

Circulation, Volume 148, Issue Suppl_1, Page A14250-A14250, November 6, 2023. Objectives:DJ-1 protein is a multifunctional protein with cardioprotective effects against acute myocardial ischemia-reperfusion injury (IRI). This study aims to elucidate whether ND-13, a small peptide derived from DJ-1, can confer acute cardioprotection after IRI by preserving mitochondrial homeostasis through improvements in mitochondrial respiratory capacity and regulating the balance between mitochondrial fusion/fission. By enhancing mitochondrial respiration and maintaining the integrity of the mitochondrial network, ND-13 may provide a novel therapeutic strategy for cardioprotection in cardiomyocytes following IRI.Methods:In vitro,ex vivoandin vivomurine models of IRI were used to elucidate the cardioprotective effects of ND-13. Infarct size, cardiac function and mitochondrial function were assessed.Results:ND-13 was shown to confer cardioprotection in three distinct models of IRI: (i)in vitro, cardiomyocyte (CM) death was reduced by 42% (64±1% untreated vs 37±2% treated; p≤0.01); (ii)ex vivoLangendorrf, with 43% decrease in infarct size (51±6.4% untreated vs 29±8.8% treated; p≤0.05); (iii)in vivo, with 35% reduction in infarct size (49±6.4% untreated vs 32±5.0% treated; p≤0.0001). CMs treated with ND-13 in thein vitromodel of IRI demonstrated a significant increase in mitochondrial respiration rates, (basal: untreated 37±3 vs treated 63±10 pmol/min/cells, p≤0.05; maximal: untreated 286±20 vs treated 494±53 pmol/min/cells, p≤0.001; and spare respiratory capacity: untreated 251±18 vs treated 421±43 pmol/min/cells, p≤0.001) and a significant increase in levels of cytosolic ATP (untreated 4.0 ± 0.3 vs treated 5.6 ± 0.5 μM, p≤0.05).Conclusion:We demonstrate for the first time, cardioprotection with the DJ-1-derived peptide, ND-13, and this beneficial effect appears to be mediated by its mitoprotective actions with enhanced mitochondrial respiratory efficiency and increased ATP production. Upcoming research aims to explore if ND-13 promotes oxidative phosphorylation by directly binding to complexes of the electron transport chain to maximize respiratory function or by enhancing pyruvate dehydrogenase activity, thereby potentially influencing the regulation of the fission/fusion process.

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Novembre 2023