ORCID Profile
0000-0002-3547-6733
Current Organisations
University of Sydney
,
University College Dublin
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Publisher: Elsevier BV
Date: 09-2014
DOI: 10.1016/J.SCHRES.2014.06.016
Abstract: There is compelling evidence for the role of copy number variants (CNVs) in schizophrenia susceptibility, and it has been estimated that up to 2-3% of schizophrenia cases may carry rare CNVs. Despite evidence that these events are associated with an increased risk across categorical neurodevelopmental disorders, there is limited understanding of the impact of CNVs on the core features of disorders like schizophrenia. Our objective was to evaluate associations between rare CNVs in differentially brain expressed (BE) genes and the core features and clinical correlates of schizophrenia. The s le included 386 cases of Irish ancestry with a diagnosis of schizophrenia, at least one rare CNV impacting any gene, and a core set of phenotypic measures. Statistically significant associations between deletions in differentially BE genes were found for family history of mental illness (decreased prevalence of all CNVs and deletions, unadjusted and adjusted) and for paternal age (increase in deletions only, unadjusted, among those with later ages at birth of patient). The strong effect of a lack of a family history on BE genes suggests that CNVs may comprise one pathway to schizophrenia, whereas a positive family history could index other genetic mechanisms that increase schizophrenia vulnerability. To our knowledge, this is the first investigation of the association between genome-wide CNVs and risk factors and sub-phenotypic features of schizophrenia beyond cognitive function.
Publisher: Oxford University Press (OUP)
Date: 06-12-2007
DOI: 10.1093/HMG/DDM348
Abstract: Late-onset Alzheimer's disease (LOAD) and Parkinson's disease (PD) are the most common neurodegenerative disorders and in both diseases susceptibility is known to be influenced by genes. We set out to identify novel susceptibility genes for LOAD by performing a large scale, multi-tiered association study testing 4692 single nucleotide polymorphism (SNPs). We identified a SNP within a putative transcription factor binding site in the NEDD9 gene (neural precursor cell expressed, developmentally down-regulated), that shows good evidence of association with disease risk in four out of five LOAD s les [N = 3521, P = 5.38x10(-6), odds ratio (OR) = 1.38 (1.20-1.59)] and in addition, we observed a similar pattern of association in two PD s le sets [N = 1464, P = 0.0145, OR =1.31 (1.05-1.62)]. In exploring a potential mechanism for the association, we observed that expression of NEDD9 and APOE show a strong inverse correlation in the hippoc us of Alzheimer's cases. These data implicate NEDD9 as a novel susceptibility gene for LOAD and possibly PD.
Publisher: Public Library of Science (PLoS)
Date: 25-05-2023
DOI: 10.1371/JOURNAL.PONE.0286200
Abstract: Diet-related inflammation is associated with adiposity. Obesity and inflammation in early life may have adverse health outcomes in later life however, the socio-ecological predictors of a pro-inflammatory diet in childhood and adolescence are not well understood. This rapid scoping review aims to summarise the current state of research from observational studies investigating socio-ecological predictors (childhood, parental, familial, demographic and chronobiological risk factors) and their association with diet-associated inflammation and adiposity in children and adolescents. This scoping review will be conducted using the frameworks based on the Joanna Briggs Institute and Arksey and O’Malley and the Population, Concept and Context (PCC) mnemonic. Searches were conducted in OVID Medline, Cinahl and Embase, with adaptations as required. The piloted study selection process will utilise two reviewers for study selection, with reference lists checked for included studies. A third reviewer will moderate disagreements. Data will be extracted by one reviewer and calibrated by a second reviewer. The results will be reported using the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) checklist and PRISMA-ScR flow diagram. The main findings will be synthesised into themes and concepts narratively. Tables and graphs will present frequencies, study details and categorical descriptions. This scoping review will provide an overview of the research conducted to date regarding predictors of diet-related inflammation in childhood and their associations with adiposity. Better understanding of the factors associated with a more inflammatory diet in childhood may be useful for clinicians and policy makers when designing and implementing health interventions.
Publisher: Springer Science and Business Media LLC
Date: 02-02-2011
Publisher: F1000 Research Ltd
Date: 04-05-2021
DOI: 10.12688/HRBOPENRES.13185.2
Abstract: Background: Exercise rehabilitation programmes, traditionally involving supervised exercise sessions, have had to rapidly adapt to virtual delivery in response to the coronavirus disease 2019 (COVID-19) pandemic to minimise patient contacts. In the absence of an effective vaccine, the pandemic is likely to persist in the medium term and during this time it is important that the feasibility and effectiveness of remote solutions is considered. We have previously established the feasibility of the Rehabilitation Strategies following Oesophago-gastric Cancer (ReStOre) intervention - a face to face multidisciplinary rehabilitation programme for upper gastrointestinal (UGI) cancer survivors. This study will examine the feasibility of a virtually delivered 12-week multi-component ReStOre@Home programme. Methods: This single arm feasibility study will recruit 12 patients who have completed curative treatment for oesophago-gastric cancer. Participants will complete the 12-week ReStOre@Home programme consisting of exercise (aerobic and resistance training), 1:1 dietary counselling and group education sessions through virtual delivery. Underpinned by the Medical Research Council (MRC) Framework, feasibility will be determined by recruitment rates, adherence, retention, incidents, and acceptability. Acceptability will be assessed qualitatively through post-intervention interview and the Telehealth Usability Questionnaire. Secondary outcomes will be assessed pre and post-intervention and will include measures of physical performance (cardiopulmonary exercise test, short physical performance battery, hand grip strength, Godin Leisure Time Questionnaire, and body composition), health related quality of life (European Organisation for Research and Treatment of Cancer Core Quality of Life Questionnaire (EORTC-QLQ-C30) and oesophago-gastric cancer specific subscale (EORTC-QLQ-OG25), fatigue (Multidimensional Fatigue Inventory (MFI-20), and venous blood s les will be collected for the UGI Cancer Survivorship Biobank. Discussion: The ReStOre@Home feasibility study will provide important data regarding the amenability of a multidisciplinary programme designed for UGI cancer survivors to virtual delivery. Trial registration: ClinicalTrials.gov NCT04603339 (26/10/2020)
Publisher: F1000 Research Ltd
Date: 25-11-2020
DOI: 10.12688/HRBOPENRES.13185.1
Abstract: Background: Exercise rehabilitation programmes, traditionally involving supervised exercise sessions, have had to rapidly adapt to virtual delivery in response to the coronavirus disease 2019 (COVID-19) pandemic to minimise patient contacts. In the absence of an effective vaccine, the pandemic is likely to persist in the medium term and during this time it is important that the feasibility and effectiveness of remote solutions is considered. We have previously established the feasibility of the Rehabilitation Strategies following Oesophago-gastric Cancer (ReStOre) intervention - a face to face multidisciplinary rehabilitation programme for upper gastrointestinal (UGI) cancer survivors. This study will examine the feasibility of a virtually delivered 12-week multi-component ReStOre@Home programme. Methods: This single arm feasibility study will recruit 12 patients who have completed curative treatment for oesophago-gastric cancer. Participants will complete the 12-week ReStOre@Home programme consisting of exercise (aerobic and resistance training), 1:1 dietary counselling and group education sessions through virtual delivery. Underpinned by the Medical Research Council (MRC) Framework, feasibility will be determined by recruitment rates, adherence, retention, incidents, and acceptability. Acceptability will be assessed qualitatively through post-intervention interview and the Telehealth Usability Questionnaire. Secondary outcomes will be assessed pre and post-intervention and will include measures of physical performance (cardiopulmonary exercise test, short physical performance battery, hand grip strength, Godin Leisure Time Questionnaire, and body composition), health related quality of life (European Organisation for Research and Treatment of Cancer Core Quality of Life Questionnaire (EORTC-QLQ-C30) and oesophago-gastric cancer specific subscale (EORTC-QLQ-OG25), fatigue (Multidimensional Fatigue Inventory (MFI-20), and venous blood s les will be collected for the UGI Cancer Survivorship Biobank. Discussion: The ReStOre@Home feasibility study will provide important data regarding the amenability of a multidisciplinary programme designed for UGI cancer survivors to virtual delivery. Trial registration: ClinicalTrials.gov NCT04603339 (26/10/2020)
Publisher: Elsevier BV
Date: 07-2003
DOI: 10.1086/376547
Abstract: Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an effort to identify regions with significant support for linkage in the combined data. The two primary analyses considered available linkage data for "very narrow" (i.e., BP-I and schizoaffective disorder-BP) and "narrow" (i.e., adding BP-II disorder) disease models, with the ranks weighted for s le size. A "broad" model (i.e., adding recurrent major depression) and unweighted analyses were also performed. No region achieved genomewide statistical significance by several simulation-based criteria. The most significant P values (<.01) were observed on chromosomes 9p22.3-21.1 (very narrow), 10q11.21-22.1 (very narrow), and 14q24.1-32.12 (narrow). Nominally significant P values were observed in adjacent bins on chromosomes 9p and 18p-q, across all three disease models on chromosomes 14q and 18p-q, and across two models on chromosome 8q. Relatively few BPD pedigrees have been studied under narrow disease models relative to the schizophrenia GSMA data set, which produced more significant results. There was no overlap of the highest-ranked regions for the two disorders. The present results for the very narrow model are promising but suggest that more and larger data sets are needed. Alternatively, linkage might be detected in certain populations or subsets of pedigrees. The narrow and broad data sets had considerable power, according to simulation studies, but did not produce more highly significant evidence for linkage. We note that meta-analysis can sometimes provide support for linkage but cannot disprove linkage in any candidate region.
Publisher: Oxford University Press (OUP)
Date: 22-02-2007
DOI: 10.1093/HMG/DDM031
Abstract: This study sets out to identify novel susceptibility genes for late-onset Alzheimer's disease (LOAD) in a powerful set of s les from the UK and USA (1808 LOAD cases and 2062 controls). Allele frequencies of 17 343 gene-based putative functional single nucleotide polymorphisms (SNPs) were tested for association with LOAD in a discovery case-control s le from the UK. A tiered strategy was used to follow-up significant variants from the discovery s le in four independent s le sets. Here, we report the identification of several candidate SNPs that show significant association with LOAD. Three of the identified markers are located on chromosome 19 (meta-analysis: full s le P = 6.94E - 81 to 0.0001), close to the APOE gene and exhibit linkage disequilibrium (LD) with the APOEepsilon4 and epsilon2/3 variants (0.09 < D'<1). Two of the three SNPs can be regarded as study-wide significant (expected number of false positives reaching the observed significance level less than 0.05 per study). Sixteen additional SNPs show evidence for association with LOAD [P = 0.0010-0.00006 odds ratio (OR) = 1.07-1.45], several of which map to known linkage regions, biological candidate genes and novel genes. Four SNPs not in LD with APOE show a false positive rate of less than 2 per study, one of which shows study-wide suggestive evidence taking account of 17 343 tests. This is a missense mutation in the galanin-like peptide precursor gene (P = 0.00005, OR = 1.2, false positive rate = 0.87).
Publisher: Elsevier BV
Date: 12-2005
DOI: 10.1086/498174
Publisher: Cambridge University Press (CUP)
Date: 19-03-2015
DOI: 10.1017/S0007114515000276
Abstract: The present analysis aimed to investigate the changes in the reported portion sizes (PS) of foods and beverages commonly consumed by Irish adults (18–64 years) from the North South Ireland Food Consumption Survey (NSIFCS) (1997–2001) and the National Adult Nutrition Survey (NANS) (2008–10). Food PS, which are defined as the weight of food (g) consumed per eating occasion, were calculated for comparable foods and beverages in two nationally representative cross-sectional Irish food consumption surveys and were published in NSIFCS and NANS. Repeated measure mixed model analysis compared reported food PS at the total population level as well as sub ided by sex, age, BMI and social class. A total of thirteen commonly consumed foods were examined. The analysis demonstrated that PS significantly increased for five foods (‘white sliced bread’, ‘brown/wholemeal breads’, ‘all meat, cooked’, ‘poultry, roasted’ and ‘milk’), significantly decreased for three (‘potatoes’, ‘chips/wedges’ and ‘ham, sliced’) and did not significantly change for five foods (‘processed potato products’, ‘bacon/ham’, ‘cheese’, ‘yogurt’ and ‘butter/spreads’) between the NSIFCS and the NANS. The present study demonstrates that there was considerable variation in the trends in reported food PS over this period.
Publisher: BMJ
Date: 2016
Publisher: Springer Science and Business Media LLC
Date: 25-11-2014
DOI: 10.1038/MP.2014.150
Publisher: Elsevier BV
Date: 2014
DOI: 10.1016/J.CARDFAIL.2013.12.001
Abstract: The detection of elevations in cardiorenal biomarkers, such as troponins, B-type natriuretic peptides (BNPs), and neutrophil gelatinase-associated lipocalins, are associated with poor outcomes in patients hospitalized with acute heart failure. Less is known about the association of these markers with adverse events in chronic right ventricular dysfunction due to pulmonary hypertension, or whether their measurement may improve risk assessment in the outpatient setting. We performed a cohort study of 108 patients attending the National Pulmonary Hypertension Unit in Dublin, Ireland, from 2007 to 2009. Cox proportional hazards analysis and receiver operating characteristic curves were used to determine predictors of mortality and hospitalization. Death or hospitalization occurred in 50 patients (46.3%) during the median study period of 4.1 years. Independent predictors of mortality were: 1) decreasing 6-minute walk test (6MWT hazard ratio [HR] 12.8 P < .001) 2) BNP (HR 6.68 P < .001) and 3) highly sensitive troponin (hsTnT HR 5.48 P < .001). Adjusted hazard analyses remained significant when hsTnT was added to a model with BNP and 6MWT (HR 9.26, 95% CI 3.61-23.79), as did the predictive ability of the model for death and rehospitalization (area under the receiver operating characteristic curve 0.81, 95% CI 0.73-0.90). Detection of troponin using a highly sensitive assay identifies a pulmonary hypertension subgroup with a poorer prognosis. hsTnT may also be used in a risk prediction model to identify patients at higher risk who may require escalation of targeted pulmonary vasodilator therapies and closer clinical surveillance.
Publisher: Elsevier BV
Date: 12-2016
DOI: 10.1016/J.SCHRES.2016.09.017
Abstract: Formal thought disorder (FTD) is associated with poor outcome in established psychotic illnesses and it can be assessed as a categorical or dimensional variable. However, its influence on functional outcome and hospitalisation patterns in early psychosis has not been investigated. We evaluated the relationship between FTD and these outcomes in a first episode psychosis (FEP) s le. A mixed diagnostic FEP cohort was recruited through an Early Intervention in Psychosis Service in Ireland. Participants were assessed at initial presentation and one year later with the MIRECC GAF to evaluate social and occupational functioning domains. Disorganisation (disFTD), verbosity (verFTD) and poverty (povFTD) dimensions of FTD were examined at both time points, as well as a unitary FTD construct. Analyses were controlled for demographic, clinical and treatment variables. DisFTD was the only FTD dimension associated with functional outcome, specifically social functioning, on multivariate analysis (beta=0.13, P<0.05). The unitary FTD construct was not associated with functional outcome. DisFTD at FEP presentation predicted a greater number of hospitalisations (adjusted beta=0.24, P<0.001) and prolonged inpatient admission (adjusted OR=1.08, 95% CI 1.02-1.15, P<0.05) following FEP. Longitudinal and dimensional evaluation of FTD has a clinical utility that is distinct from a cross-sectional or unitary assessment. Dimensions of FTD may map onto different domains of functioning. These findings are supportive of some of the changes in DSM-V with an emphasis on longitudinal and dimensional appraisal of psychopathology. Communication disorders may be considered a potential target for intervention in psychotic disorders.
Publisher: Elsevier BV
Date: 10-2015
DOI: 10.1016/J.SCHRES.2015.07.049
Abstract: Formal thought disorder (FTD) is a core feature of psychosis, however there are gaps in our knowledge about its prevalence and factor structure. We had two aims: first, to establish the factor structure of FTD second, to explore the clinical utility of dimensions of FTD in order to further the understanding of its nosology. A cross-validation study was undertaken to establish the factor structure of FTD in first episode psychosis (FEP). The relative utility of FTD categories vs. dimensions across diagnostic categories was investigated. The prevalence of clinically significant FTD in this FEP s le was 21%, although 41% showed evidence of disorganised speech, 20% displayed verbosity and 24% displayed impoverished speech. A 3-factor model was identified as the best fit for FTD, with disorganisation, poverty and verbosity dimensions (GFI=0.99, RMR=0.07). These dimensions of FTD accurately distinguished affective from non-affective diagnostic categories. A categorical approach to FTD assessment was useful in identifying markers of clinical acuteness, as identified by short duration of untreated psychosis (OR=2.94, P<0.01) and inpatient treatment status (OR=3.98, P<0.01). FTD is moderately prevalent and multi-dimensional in FEP. Employing both a dimensional and categorical assessment of FTD gives valuable clinical information, however there may be a need to revise our conceptualisation of the nosology of FTD. The prognostic value of FTD, as well as its neural basis, requires elucidation.
Publisher: Elsevier BV
Date: 10-2006
DOI: 10.1086/507588
Publisher: Public Library of Science (PLoS)
Date: 12-05-2011
No related grants have been discovered for Ricardo Segurado.