Assessment of the Environmental Impact of Food Consumption in Ireland-Informing a Transition to Sustainable Diets

Dietary changes are required to mitigate the climatic impact of food consumption. Food consumption databases can support the development of sustainable food based dietary guidelines (SFBDG) when linked to environmental indicators. An improved knowledge base is crucial to the transition to sustainable diets, and multiple environmental indicators should be considered to ensure this transition is evidence based and accounts for trade-offs. The current study aimed to quantify the environmental impact of daily diets across population groups in Ireland. Nationally representative food consumption surveys for Irish children (NCFSII; 2017-2018), teenagers (NTFSII; 2019-2020), and adults (NANS; 2008-2010) were used in this analysis. Blue water use (L) and greenhouse gas emissions (GHGe; kgCO2eq) were assigned at food level to all surveys. Cropland (m2), nitrogen (kgN/t), and phosphorous use (kgP/t) were assigned at the agricultural level for adults. Multiple linear regressions, Spearman correlations, and ANCOVAs with Bonferroni corrections were conducted. Higher environmental impact diets were significantly associated with demographic factors such as age, education status, residential location, and sex, but these associations were not consistent across population groups. The median greenhouse gas emissions were 2.77, 2.93, and 4.31 kgCO2eq, and freshwater use per day was 88, 144, and 307 L for children, teenagers, and adults, respectively. The environmental impact of the Irish population exceeded the planetary boundary for GHGe by at least 148% for all population groups, however the boundary for blue water use was not exceeded. Meat and meat alternatives (27-44%); eggs, dairy, and dairy alternatives (15-21%); and starchy staples (10-20%) were the main contributors to GHGe. For blue water use, the highest contributors were meat and meat alternatives in children; savouries, snacks, nuts, and seeds in teenagers; and eggs, dairy, and dairy alternatives in adults (29-52%). In adults, cropland use, nitrogen use, and phosphorous use exceeded planetary boundaries by 277-382%. Meat, dairy, and grains were the main contributors to cropland, nitrogen, and phosphorous use (79-88%). The quantified environmental impact of Irish diets provides a baseline analysis, against which it will be possible to track progress towards sustainable diets, and the basis for the development of Sustainable Food Based Dietary Guidelines in Ireland

Phenotypic factors influencing the variation in response of circulating cholesterol level to personalised dietary advice in the Food4Me study

Individual response to dietary interventions can be highly variable. The phenotypic characteristics of those who will respond positively to personalised dietary advice are largely unknown. The objective of this study was to compare the phenotypic profiles of differential responders to personalised dietary intervention, with a focus on total circulating cholesterol. Subjects from the Food4Me multi-centre study were classified as responders or non-responders to dietary advice on the basis of the change in cholesterol level from baseline to month 6, with lower and upper quartiles defined as responder and non-responder groups, respectively. There were no significant differences between demographic and anthropometric profiles of the groups. Furthermore, with the exception of alcohol, there was no significant difference in reported dietary intake, at baseline. However, there were marked differences in baseline fatty acid profiles. The responder group had significantly higher levels of stearic acid (18 : 0, P=0·034) and lower levels of palmitic acid (16 : 0, P=0·009). Total MUFA (P=0·016) and total PUFA (P=0·008) also differed between the groups. In a step-wise logistic regression model, age, baseline total cholesterol, glucose, five fatty acids and alcohol intakes were selected as factors that successfully discriminated responders from non-responders, with sensitivity of 82 % and specificity of 83 %. The successful delivery of personalised dietary advice may depend on our ability to identify phenotypes that are responsive. The results demonstrate the potential use of metabolic profiles in identifying response to an intervention and could play an important role in the development of precision nutrition

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Purpose We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks forBRCA1andBRCA2pathogenic variant carriers. Methods Retrospective cohort data on 18,935BRCA1and 12,339BRCA2female pathogenic variant carriers of European ancestry were available. Three versions of a 313 single-nucleotide polymorphism (SNP) BC PRS were evaluated based on whether they predict overall, estrogen receptor (ER)-negative, or ER-positive BC, and two PRS for overall or high-grade serous EOC. Associations were validated in a prospective cohort. Results The ER-negative PRS showed the strongest association with BC risk forBRCA1carriers (hazard ratio [HR] per standard deviation = 1.29 [95% CI 1.25-1.33],P = 3x10(-72)). ForBRCA2, the strongest association was with overall BC PRS (HR = 1.31 [95% CI 1.27-1.36],P = 7x10(-50)). HR estimates decreased significantly with age and there was evidence for differences in associations by predicted variant effects on protein expression. The HR estimates were smaller than general population estimates. The high-grade serous PRS yielded the strongest associations with EOC risk forBRCA1(HR = 1.32 [95% CI 1.25-1.40],P = 3x10(-22)) andBRCA2(HR = 1.44 [95% CI 1.30-1.60],P = 4x10(-12)) carriers. The associations in the prospective cohort were similar. Conclusion Population-based PRS are strongly associated with BC and EOC risks forBRCA1/2carriers and predict substantial absolute risk differences for women at PRS distribution extremes.Peer reviewe

Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFβ receptor, paradoxical activation of TGFβ signalling is seen, suggesting that TGFβ antagonism may confer disease modifying effects similar to those observed in MFS. TGFβ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

The Precision Interventions for Severe and/or Exacerbation-Prone (PrecISE) Asthma Network: an overview of Network organization, procedures and interventions

Asthma is a heterogeneous disease, with multiple underlying inflammatory pathways and structural airway abnormalities that impact disease persistence and severity. Recent progress has been made in developing targeted asthma therapeutics, especially for subjects with eosinophilic asthma. However, there is an unmet need for new approaches to treat patients with severe and exacerbation prone asthma, who contribute disproportionately to disease burden. Extensive deep phenotyping has revealed the heterogeneous nature of severe asthma and identified distinct disease subtypes. A current challenge in the field is to translate new and emerging knowledge about different pathobiologic mechanisms in asthma into patient-specific therapies, with the ultimate goal of modifying the natural history of disease. Here we describe the Precision Interventions for Severe and/or Exacerbation Prone Asthma (PrecISE) Network, a groundbreaking collaborative effort of asthma researchers and biostatisticians from around the U.S. The PrecISE Network was designed to conduct phase II/proof of concept clinical trials of precision interventions in the severe asthma population, and is supported by the National Heart Lung and Blood Institute of the National Institutes of Health. Using an innovative adaptive platform trial design, the Network will evaluate up to six interventions simultaneously in biomarker-defined subgroups of subjects. We review the development and organizational structure of the Network, and choice of interventions being studied. We hope that the PrecISE Network will enhance our understanding of asthma subtypes and accelerate the development of therapeutics for of severe asthma

An Evaluation of Probability of Adequate Nutrient Intake (PANDiet) Scores as a Diet Quality Metric in Irish National Food Consumption Data

Identifying reliable metrics which measure the quality of a diet to promote nutrient adequacy and long-term health is an important step in the development of a sustainable food system. The Probability of Adequate Nutrient Intake (PANDiet) scoring system has been used as a measure of dietary quality in interdisciplinary research in recent years. The aim of the current study is to apply the PANDiet scoring system, and to assess the validity of the score as a metric of nutritional adequacy, within the Irish population. The Irish National Adult Nutrition Survey is a representative database with detailed data on nutrient intakes (18–90 years; n = 1051 valid-reporters; 2008–2010) and biofluid analytes (blood n = 786; urine n = 778). The PANDiet scoring system was expanded to include seven macronutrients, twelve micronutrients, nine minerals, and total energy using an established methodology. PANDiet scores were assessed against the Alternate Healthy Eating Index (AHEI) and Alternate Mediterranean Diet (aMED) food-based scores. The average score for the population (μ) was 63.69 ± 0.23 and ranged from 38.27 to 89.74. Higher PANDiet scores were significantly associated with males, higher educated participants, non-smokers, and low-energy-dense diets (p < 0.001). Females between the ages of 18 and 35 had a significantly lower nutrient adequacy score (μ 59.17). PANDiet scores were significantly correlated with serum folate, riboflavin status, serum vitamin D (p < 0.05) and with AHEI and aMED scores (R(s) 0.45 and 0.43, p < 0.0001). The nutritional contribution of food groups varied between genders and low, moderate, and high nutritional adequacy groups. The PANDiet scoring system facilitated a detailed analysis of nutritional adequacy across sub-groups of the population, and is a comprehensive and valid diet quality metric in Irish databases

The Role of Ecomorphodynamic Feedbacks and Landscape Couplings in Influencing the Response of Barriers to Changing Climate

Because barriers are low-lying and dynamic landforms, they are especially sensitive to changing environmental conditions. The continued existence of barriers will depend on the degree to which these landforms can maintain elevation above sea level while also migrating landward. We are increasingly learning that ecomorphodynamic interactions (i.e., interactions between morphology, fluid dynamics, and/or sediment transport with biological processes) as well as couplings between barrier and back-barrier environments play a critical role in determining how barrier systems will evolve as sea level rises, storm intensity increases, and the species composition of coastal vegetation changes in the future. For example, the effectiveness of storms in building elevation and moving a barrier landward is determined, in large part, by the morphology of the coastal foredune (i.e., the seaward-most dune), which is itself a product of couplings between vegetation and sediment transport processes. The cross-shore and alongshore shape of coastal foredunes, in the presence of shoreline erosion or shoreline accretion, is influenced by the distance from the shoreline that vegetation can grow, the rates of lateral and vertical vegetation growth of dune-building vegetation, as well as the dependence of vegetation growth on dune slope. In addition, as storm frequency increases relative to the rate at which dunes can grow, dunes, and therefore local barrier elevation, may become bistable, tending to be in either a high dune/barrier or low dune/barrier state. When dunes are low, storms can effectively increase barrier elevation and move a barrier landward over time leading also to the potential for increased connectivity to back-barrier marshes, which are vulnerable to drowning as sea level rises. In this case, sand delivered to back-barrier marshes can, for a time, allow back-barrier marshes to persist under conditions in which they would otherwise disappear, thereby benefitting the entire barrier-marsh system. Here we provide a synthesis of model results—tested against observations—that demonstrate these findings, illustrating the importance of feedbacks between vegetative and sediment transport processes, and couplings between landscape units, in influencing the future evolution of barrier-marsh systems

Current Practices in LC-MS Untargeted Metabolomics: A Scoping Review on the Use of Pooled Quality Control Samples.

Untargeted metabolomics is an analytical approach with numerous applications serving as an effective metabolic phenotyping platform to characterize small molecules within a biological system. Data quality can be challenging to evaluate and demonstrate in metabolomics experiments. This has driven the use of pooled quality control (QC) samples for monitoring and, if necessary, correcting for analytical variance introduced during sample preparation and data acquisition stages. Described herein is a scoping literature review detailing the use of pooled QC samples in published untargeted liquid chromatography-mass spectrometry (LC-MS) based metabolomics studies. A literature query was performed, the list of papers was filtered, and suitable articles were randomly sampled. In total, 109 papers were each reviewed by at least five reviewers, answering predefined questions surrounding the use of pooled quality control samples. The results of the review indicate that use of pooled QC samples has been relatively widely adopted by the metabolomics community and that it is used at a similar frequency across biological taxa and sample types in both small- and large-scale studies. However, while many studies generated and analyzed pooled QC samples, relatively few reported the use of pooled QC samples to improve data quality. This demonstrates a clear opportunity for the field to more frequently utilize pooled QC samples for quality reporting, feature filtering, analytical drift correction, and metabolite annotation. Additionally, our survey approach enabled us to assess the ambiguity in the reporting of the methods used to describe the generation and use of pooled QC samples. This analysis indicates that many details of the QC framework are missing or unclear, limiting the reader's ability to determine which QC steps have been taken. Collectively, these results capture the current state of pooled QC sample usage and highlight existing strengths and deficiencies as they are applied in untargeted LC-MS metabolomics