The risk factor profile of grandparents.

In the Lifeways Cross Generation Cohort Study, mothers were asked to recruit at least one of 4 potential living grandparents to the study, and 1177 grandparents became active participants who either completed a health status questionnaire only (n = 707), or subsequently underwent a cardiovascular risk assessment examination at home (n = 958). Mean age of grandfathers at baseline was 61.5 years (SD 10.3), of grandmothers 59.2 years (SD 9.1), with a range of 40-83 years, 21% of grandmothers and 16% of grandfathers were third level educated. Risk factor profile of grandparents tended to be more adverse than the general population as assessed by the standard cardiovascular risk factor SCORE. Grandparents' socio-demographic characteristics were similar, whether maternal or paternal in origin. Predictors of positive self-rated health were non smoking (OR 1.5, p = 0.06) and non GMS eligibility (OR 1.99, p < 0.001). At four year follow-up, complete general practice data were available for 285 of 488 respondents with full recruitment data (58.4%). Increased GP utilisation pattern was predicted by baseline morbidity characteristics, though heavier male drinkers were less likely to attend

Mothers' dietary patterns during pregnancy and risk of asthma symptoms in children at 3 years.

There is increasing evidence that dietary factors in early life play a role in the aetiology of childhood asthma. Our objective in this analysis was to assess whether maternal dietary patterns during pregnancy, as measured by a validated food frequency questionnaire, influenced general practitioner diagnosis of asthma by the age of 3 years in the Life-ways cohort of children. General Practice follow-up records were available for 631 of 1001 singleton children, twins having been excluded (63% follow-up rate). Overall 10.4% of children had diagnosed asthma, a prevalence rate comparable with other studies. In logistic regression models, based on quartiles of intake, which adjusted for maternal lifestyle and socio-economic circumstances, relatively higher maternal fruit and vegetable intake and oily fish consumption were associated with lower risk of children developing asthma, whilst those with relatively higher spreadable fat intake had a higher risk of asthma. These findings warrant further investigation as they imply an important role for maternal diet in childhood asthma, though the confounding effect of other social and lifestyle factors should be assessed as the children get older

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a “telegenetics” approach. Genetic testing approach was panel-based next generation sequencing (351 genes) via a commercial laboratory (Blueprint Genetics, Helsinki, Finland). Of 70 patient samples from 57 pedigrees undergoing genetic testing, a causative genetic variant(s) was detected for 60 patients (85.7%) from 47 (82.5%) pedigrees. Of the 60 genetically resolved IRD patients, 5% (n = 3) are eligible for approved therapies (RPE65) and 38.3% (n = 23) are eligible for clinical trial-based gene therapies including CEP290 (n = 2), CNGA3 (n = 3), CNGB3 (n = 6), RPGR (n = 5) and RS1 (n = 7). The early introduction of genetic testing in the diagnostic/care pathway for children with IRDs is critical for genetic counselling of these families prior to upcoming gene therapy trials. Herein, we describe the pathway used, the clinical and genetic findings, and the therapeutic implications of the first systematic coordinated round of genetic testing of a paediatric IRD cohort in Ireland

Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population

Inherited retinal degenerations (IRDs) account for over one third of the underlying causes of blindness in the paediatric population. Patients with IRDs often experience long delays prior to reaching a definitive diagnosis. Children attending a tertiary care paediatric ophthalmology department with phenotypic (i.e., clinical and/or electrophysiologic) evidence suggestive of IRD were contacted for genetic testing during the SARS-CoV-2-19 pandemic using a &ldquo;telegenetics&rdquo; approach. Genetic testing approach was panel-based next generation sequencing (351 genes) via a commercial laboratory (Blueprint Genetics, Helsinki, Finland). Of 70 patient samples from 57 pedigrees undergoing genetic testing, a causative genetic variant(s) was detected for 60 patients (85.7%) from 47 (82.5%) pedigrees. Of the 60 genetically resolved IRD patients, 5% (n = 3) are eligible for approved therapies (RPE65) and 38.3% (n = 23) are eligible for clinical trial-based gene therapies including CEP290 (n = 2), CNGA3 (n = 3), CNGB3 (n = 6), RPGR (n = 5) and RS1 (n = 7). The early introduction of genetic testing in the diagnostic/care pathway for children with IRDs is critical for genetic counselling of these families prior to upcoming gene therapy trials. Herein, we describe the pathway used, the clinical and genetic findings, and the therapeutic implications of the first systematic coordinated round of genetic testing of a paediatric IRD cohort in Ireland

Quantification of In Situ Denitrification Rates in Groundwater Below an Arable and a Grassland System

peer-reviewedUnderstanding denitrification rates in groundwater ecosystems can help predict where agricultural reactive nitrogen (N) contributes to environmental degradation. In situ groundwater denitrification rates were determined in subsoil, at the bedrock-interface and in bedrock at two sites, grassland and arable, using an in situ ‘push-pull’ method with 15N labelled nitrate (NO3--N). Measured groundwater denitrification rates ranged from 1.3 to 469.5 µg N kg-1d-1. Exceptionally high denitrification rates observed at the bedrock-interface at grassland site (470±152µg N kg-1d-1; SE, standard error) suggest that deep groundwater can serve as substantial hotspots for NO3--N removal. However, denitrification rates at the other locations were low and may not substantially reduce NO3--N delivery to surface waters. Denitrification rates were negatively correlated with ambient dissolved oxygen (DO), redox potential (Eh), ks and NO3- (all p-values p<0.01) and positively correlated with SO42- (p<0.05). Higher mean N2O/(N2O+N2) ratios at arable (0.28) site than the grassland (0.10) revealed that arable site has higher potential to indirect N2O emissions. Identification of areas with high and low denitrification and related site parameters can be a tool to manage agricultural N to safeguard the environment.Department of Agriculture and Food, Ireland - Research Stimulus Fund Programme (Grant RSF 06383