Apeced in Turkey: a case report and insights on genetic and phenotypic variability

APECED is a rare monogenic recessive disorder caused by mutations in the AIRE gene. In this manuscript, we report a male Turkish patient with APECED syndrome who presented with chronic mucocutaneous candidiasis associated with other autoimmune manifestations developed over the years. The presence of the homozygous R257X mutation of the AIRE gene confirmed the diagnosis of APECED syndrome. We further performed literature review in 23 published Turkish APECED patients and noted that Finnish major mutation R257X is common in Turks. In particular, we assessed retrospectively how often the Ferre/Lionakis criteria would have resulted in earlier diagnosis in Finns, Sardinians and Turks in respect to the classic criteria. Since an earlier diagnosis could have been possible in 18.8% of Turkish, in 23.8% of Sardinian and 38.55% of Finnish patients we reviewed from literature, Ferre/Lionakis criteria could indeed allow in future earlier initiation of immunomodulatory treatments, if found effective in future studies

The chips are down: the influence of family on children’s trust formation

Understanding the formation of trust is a key issue because of the impact of trust on economic performance. Earlier attempts to measure the strength of intergenerational transmission of trust relied on the cross-sectional regression of children’s trust on the contemporaneous trust of parents. In this paper, we take an original approach to the analysis of the transmission process by introducing the distinction between permanent trust (the long-lasting belief on whether one trusts people) and transient trust (capturing, e.g., random errors in the reported trust), and argue that only permanent trust is relevant for the transmission process. Using data from the German Socio-Economic Panel, we show that 2/3 of the observed variability in children’s trust is due to the transient component. The remaining variability due to the permanent component is only moderately determined by the permanent trust of the parents, with mothers being much more relevant than fathers. Focusing on the subsample of families with more than one child, we show that most of the variability in children’s permanent trust is due to unobservable family-specific features of the environment shared by siblings. We conclude that while the family environment in which children grew up determines most of their permanent trust, the direct role of intergenerational transmission is small.Sara Tonini kindly acknowledges the financial support by the Fondazione Universitá di Trento under the Dematté grant

Food waste accounting - Methodologies, challenges and opportunities

Food waste (FW) is a priority both at global and European level. The United Nations (UN) defined the Sustainable Development Goal 12.3 target of ‘By 2030, halve per capita global FW at the retail and consumer levels and reduce food losses along production and supply chains, including post-harvest losses’. The European Commission has committed to achieve this goal and defined FW as a priority within the Circular Economy Action Plan. In order to support achievement of the SDG 12.3 target on food waste and maximise the contribution of all actors, the Commission to established the EU Platform on Food Losses and Food Waste (FLW) to support all actors in defining measures needed to prevent food waste, sharing best practice, and evaluating progress made over time. The first step to address FW is to have a robust account of FW generated along the Food Supply Chain (FSC). Studies can be found in the literature that estimate FW at the EU level but results are discrepant because of different approaches, e.g. inclusion of inedible fractions of food and type of measurement. Furthermore, each approach presents strengths and weaknesses that may influence its use for specific purposes. At present, a consolidated framework for FW quantification in Europe is still an open challenge. A robust FW accounting system and FW quantification is primordial to enable monitoring FW and measuring distance to FW reduction targets. Such information is necessary to identify the most important FW streams, to define a baseline to monitor FW reduction over time, and to recognise FW flows that may undergo a valorisation process in a circular economy perspective To contribute to the development of harmonized and robust FW accounting methodologies and FW quantification, the Joint Research Centre (JRC), bioeconomy unit (D1) organized a technical workshop entitled ‘Food waste accounting: methodologies, challenges and opportunities’ with speaker’s representative of the main projects related to FW accounting. The aim of the workshop was to share experiences and perspectives on FW quantification at the European scale, highlighting opportunities and challenges in order to improve FW quantification and ensure better decision support in relation to FW reduction and valorisation. A key message from the workshop was that a harmonize methodology for FW accounting is not yet defined and there is the need of improving and matching methodological aspects and policy questions as the information needs are different depending on the area of policy intervention (either prevention, management or valorisation). Together with a clear framework for FW accounting, a clear and consensual FW definition clearly and in standardized way the aim, definitions and terminology (edible/inedible and avoidable/unavoidable), system boundaries, and, units of measurement is very important. This involves defining. This would enable the comparison of existing data across countries, commodities, and FSCs, which would further help exploring patterns and driving factors of FW generation. It was also identified the need to improve data quality and the development of methods to account liquid waste. Moreover, research is necessary to identify systematically types and sources of uncertainty and variability within the FW accounting framework and provide guidelines and tools to assess them. Another challenge to be addressed is the identification of FW drivers is of extreme relevance for both designing properly the framework for primary data collection and defining effective reduction strategies.JRC.D.1-Bio-econom

TOWARDS A SUSTAINABLE FOOD SYSTEM. LIFE CYCLE ASSESSMENT APPLIED TO AGRO-FOODPRODUCTS

Fornendo energia e nutrienti, la produzione di cibo è essenziale per la vita. Tuttavia, essa rappresenta anche una criticità ambientale. La popolazione mondiale in rapida crescita, infatti, ha bisogno di un quantitativo di cibo sempre maggiore, una delle principali cause di degrado ambientale a livello globale. Il sistema agricolo è fondato su una rete di relazioni complesse che collegano la produzione agricola, funzioni e condizioni ambientali. Una produzione agricola meno impattante è, quindi, fondamentale per non compromettere la possibilità per la future generazioni di avere accesso a un quantitativo adeguato di risorse. La metodologia LCA (life cycle assessment) ha un ruolo centrale nella valutazione di sostenibilità. Analizzando l’intero ciclo di vita di un prodotto o servizio, infatti, permette di tenere in considerazione eventuali trasferimenti di impatti tra comparti ambientali o fai della filiera. Il principale obiettivo della presente tesi è contribuire al dibattito in corso riguardo all’armonizzazione degli approcci nell’applicazione della metodologia LCA a prodotti agro-alimentari per favorirne l’affidabilità e l’efficacia.Providing energy and nutrients, food production is essential for life. However it represents also an important environmental concern. Indeed, the rapidly growing world population is requiring an increased food production which is one of the greatest causes of environmental degradation throughout the world. The agricultural system is based on complex relations that link agricultural productivity, environmental functions and environmental conditions. Therefore, moving towards less polluting production systems is of the utmost importance to satisfy the current demand for food without compromising the possibility for future generations to have access to a proper amount of food of adequate quality. Life cycle assessment (LCA) methodology is at the core of sustainability assessment. Indeed, considering the entire life cycle of a product or service, it allows to account for potential shifts of environmental impacts between environmental compartments or stages of the food supply chain. The overall aim of the present thesis is to contribute to the ongoing debate on the harmonisation of the approaches to carry out a LCA referred to agro-food products in order to foster its reliability and effectiveness

Modelling of food loss within life cycle assessment: From current practice towards a systematisation

Abstract Food loss is a major concern from both environmental and social point of view. Life Cycle Assessment (LCA) has been largely applied to quantify the environmental impact of food and to identify pros and cons of different options for optimisation of food systems management, including the recovery of potential waste occurring along the supply chain. However, within LCA case studies, there is still a general lack of proper accounting of food losses. A discrepancy both in food loss definition and in the approaches adopted to model the environmental burden of food loss has been observed. These aspects can lead to misleading and, sometimes, contrasting results, limiting the reliability of LCA as a decision support tool for assessing food production systems. This article aims, firstly, at providing a preliminary analysis on how the modelling of food loss has been conducted so far in LCA studies. Secondly, it suggests a definition for food loss to be adopted. Finally, the article investigates the consequence of using such definition and it proposes potential paths for the development of a common methodological framework to increase the robustness and comparability of the LCA studies. It discusses the strengths and weaknesses of the different approaches adopted to account for food loss along the food supply chain: primary production, transport and storage, food processing, distribution, consumption and end of life. It is also proposed to account separately between avoidable, possibly avoidable and unavoidable food loss by means of specific indicators. Finally, some recommendations for LCA practitioners are provided on how to deal with food loss in LCA studies focused on food products. The most relevant recommendations concern: i) the systematic accounting of food loss generated along the food supply chain; ii) the modelling of waste treatments according to the specific characteristics of food; iii) the sensitivity analysis on the modelling approaches adopted to model multi-functionality; and iv) the need of transparency in describing the modelling of food loss generation and management

The Italian meat production and consumption system assessed combining material flow analysis and life cycle assessment

Abstract Meat production and consumption is associated with the generation of significant environmental pressure and impacts, and resource inefficiencies. This study combines Material Flow Analysis (MFA) and Life cycle Assessment (LCA) to analyse the meat supply chain in order to better comprehend the circularity of the system, considering the Italian meat supply chain as a case study. The system boundaries of both the MFA and LCA included all the life cycle stages starting from slaughter phase to meat consumption at household and food services level. The LCA study included also all the stages upstream of the slaughter phase. Consumed meat and animal by-products (ABPs) were quantified, and the potential benefits due to the re-use of rendered ABPs were assessed. A sensitivity analysis was performed to assess the extent to which allocation choices may influence the outcomes of the analysis. The results showed an average meat consumption of 55 kg/per-capita/year with pig, poultry and cattle meat contributing respectively by 46%, 27% and 25%, followed by other meat categories, representing 2% of the total meat consumption. Daily meat consumption is responsible for the emission of 2.80 kg CO2eq per capita with beef meat contributing to 65% of the emissions. The results showed the same relative importance among meat types for acidification, terrestrial and freshwater eutrophication, and land use impact categories. The sensitivity analysis showed that allocation choices did not affect the ranking of meat categories. The system under study resulted to be efficient and to promote circularity, thanks to the re-use and valorisation of ABPs

Primary dermal melanoma in a patient with a history of multiple malignancies: a case report with molecular characterization

Introduction: Primary dermal melanoma (PDM) is a recently described clinical entity accounting for less than 1% of all melanomas. Histologically, it is located in the dermis or subcutaneous tissue, and it shows no connections with the overlying epidermis. The differential diagnosis is principally made along with that of metastatic cutaneous melanoma. Case Report: A 72-year-old Caucasian woman with a history of multiple cancers (metachro-nous bilateral breast cancer, meningioma, clear cell renal cell carcinoma, uterine fibromatosis and intestinal adenomatous polyposis), came to our attention with a nodular lesion on her back. After removal of the lesion, the histology report indicated malignant PDM or metastatic malignant melanoma. The clinical and instrumental evaluation of the patient did not reveal any other primary tumour, suggesting the primitive nature of the lesion. The absence of an epithelial component argued for a histological diagnosis of PDM. Subsequently, the patient underwent a wide surgical excision with sentinel node biopsy, which was positive for metastatic melanoma. Finally, the mutational status was studied in the main genes that regulate proliferation, apoptosis and cellular senescence. No pathogenetic mutations in CDKN2A, BRAF, NRAS, KRAS, cKIT, TP53 and PTEN genes were observed. This suggests that alternative pathways and low-frequency alterations may be involved. Conclusions: The differential diagnosis between PDM and isolated metastatic melanoma depends on the negativity of imaging studies and clinical findings for other primary lesions. This distinction is important because 5-year survival rates in such cases are higher than in metastatic cases (80– 100 vs. 5–20%, respectively)

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings

Neutral lipid storage disease with myopathy (NLSD-M) is a rare autosomal recessive disorder characterised by an abnormal accumulation of triacylglycerol into cytoplasmic lipid droplets (LDs). NLSD-M patients are mainly affected by progressive myopathy, cardiomyopathy and hepatomegaly. Mutations in the PNPLA2 gene cause variable phenotypes of NLSD-M. PNPLA2 codes for adipose triglyceride lipase (ATGL), an enzyme that hydrolyses fatty acids from triacylglycerol. This report outlines the clinical and genetic findings in a NLSD-M Italian family with three affected members. In our patients, we identified two novel PNPLA2 missense mutations (p.L56R and p.I193F). Functional data analysis demonstrated that these mutations caused the production of ATGL proteins able to bind to LDs, but with decreased lipase activity. The oldest brother, at the age of 38, had weakness and atrophy of the right upper arm and kyphosis. Now he is 61 years old and is unable to raise arms in the horizontal position. The second brother, from the age of 44, had exercise intolerance, cramps and pain in lower limbs. He is currently 50 years old and has an asymmetric distal amyotrophy. One of the two sisters, 58 years old, presents the same PNPLA2 mutations, but she is still oligo-symptomatic on neuromuscular examination with slight triceps muscle involvement. She suffered from diabetes and liver steatosis. This NLSD-M family shows a wide range of intra-familial phenotypic variability in subjects carrying the same mutations, both in terms of target-organs and in terms of rate of disease progression