Belém Sampaio-Marques

Polymorphisms within Autophagy-Related Genes as Susceptibility Biomarkers for Multiple Myeloma: A Meta-Analysis of Three Large Cohorts and Functional Characterization

Publisher: MDPI AG

Date: 09-05-2023

DOI: 10.3390/IJMS24108500

Abstract: Multiple myeloma (MM) arises following malignant proliferation of plasma cells in the bone marrow, that secrete high amounts of specific monoclonal immunoglobulins or light chains, resulting in the massive production of unfolded or misfolded proteins. Autophagy can have a dual role in tumorigenesis, by eliminating these abnormal proteins to avoid cancer development, but also ensuring MM cell survival and promoting resistance to treatments. To date no studies have determined the impact of genetic variation in autophagy-related genes on MM risk. We performed meta-analysis of germline genetic data on 234 autophagy-related genes from three independent study populations including 13,387 subjects of European ancestry (6863 MM patients and 6524 controls) and examined correlations of statistically significant single nucleotide polymorphisms (SNPs p 1 × 10−9) with immune responses in whole blood, peripheral blood mononuclear cells (PBMCs), and monocyte-derived macrophages (MDM) from a large population of healthy donors from the Human Functional Genomic Project (HFGP). We identified SNPs in six loci, CD46, IKBKE, PARK2, ULK4, ATG5, and CDKN2A associated with MM risk (p = 4.47 × 10−4−5.79 × 10−14). Mechanistically, we found that the ULK4rs6599175 SNP correlated with circulating concentrations of vitamin D3 (p = 4.0 × 10−4), whereas the IKBKErs17433804 SNP correlated with the number of transitional CD24+CD38+ B cells (p = 4.8 × 10−4) and circulating serum concentrations of Monocyte Chemoattractant Protein (MCP)-2 (p = 3.6 × 10−4). We also found that the CD46rs1142469 SNP correlated with numbers of CD19+ B cells, CD19+CD3− B cells, CD5+IgD− cells, IgM− cells, IgD−IgM− cells, and CD4−CD8− PBMCs (p = 4.9 × 10−4−8.6 × 10−4) and circulating concentrations of interleukin (IL)-20 (p = 0.00082). Finally, we observed that the CDKN2Ars2811710 SNP correlated with levels of CD4+EMCD45RO+CD27− cells (p = 9.3 × 10−4). These results suggest that genetic variants within these six loci influence MM risk through the modulation of specific subsets of immune cells, as well as vitamin D3−, MCP-2−, and IL20-dependent pathways.

A mixed-methods study to determine the impact of COVID-19 on food security, food access and supply in regional Australia for consumers and food supply stakeholders.

Publisher: Springer Science and Business Media LLC

Date: 20-03-2022

DOI: 10.1186/S12937-022-00770-4

Abstract: The COVID-19 pandemic has impacted the Australian food supply through changed consumer purchasing patterns, and potentially, household food security. The aim of this study was to determine the impact of COVID-19 on the prevalence of food insecurity and food supply issues, and perspectives of food supply stakeholders in regional Australia. A mixed-methods consumer survey and in-depth interviews with food supply stakeholders were conducted in regional Australia, more specifically South West Western Australia between May and July 2020, immediately after the 1 The prevalence of food insecurity was 21% among consumers, and significantly more prevalent for those aged less than 30 years and living with a disability. Most consumers (73%) agreed that the COVID-19 pandemic had impacted the food supply. Food insecure respondents were more likely to report that food was more expensive, resulting in changes to the types and quantities of food bought. Food supply stakeholders perceived that consumers increased their intention to buy locally grown produce. Panic buying temporarily reduced the availability of food for both food suppliers and consumers, regardless of their food security status. This study provided novel insights from South West Australian consumer and food supply stakeholder perceptions. Food insecure consumers provided insights about the high cost of food and the subsequent adaptation of their shopping habits, namely type and amount of food purchased. Stakeholder perceptions largely focused on supply chain issues and corroborated consumer reports.

Current and Emerging Techniques for Diagnosis and MRD Detection in AML: A Comprehensive Narrative Review

Publisher: MDPI AG

Date: 21-02-2023

DOI: 10.3390/CANCERS15051362

Abstract: Acute myeloid leukemia (AML) comprises a group of hematologic neoplasms characterized by abnormal differentiation and proliferation of myeloid progenitor cells. AML is associated with poor outcome due to the lack of efficient therapies and early diagnostic tools. The current gold standard diagnostic tools are based on bone marrow biopsy. These biopsies, apart from being very invasive, painful, and costly, have low sensitivity. Despite the progress uncovering the molecular pathogenesis of AML, the development of novel detection strategies is still poorly explored. This is particularly important for patients that check the criteria for complete remission after treatment, since they can relapse through the persistence of some leukemic stem cells. This condition, recently named as measurable residual disease (MRD), has severe consequences for disease progression. Hence, an early and accurate diagnosis of MRD would allow an appropriate therapy to be tailored, improving a patient’s prognosis. Many novel techniques with high potential in disease prevention and early detection are being explored. Among them, microfluidics has flourished in recent years due to its ability at processing complex s les as well as its demonstrated capacity to isolate rare cells from biological fluids. In parallel, surface-enhanced Raman scattering (SERS) spectroscopy has shown outstanding sensitivity and capability for multiplex quantitative detection of disease biomarkers. Together, these technologies can allow early and cost-effective disease detection as well as contribute to monitoring the efficiency of treatments. In this review, we aim to provide a comprehensive overview of AML disease, the conventional techniques currently used for its diagnosis, classification (recently updated in September 2022), and treatment selection, and we also aim to present how novel technologies can be applied to improve the detection and monitoring of MRD.

Food community: Understanding community needs for a food security website to support rural and remote Western Australians.

Publisher: Wiley

Date: 12-11-2021

DOI: 10.1002/HPJA.433

Abstract: The South West Food Community (SWFC) project (2018) was implemented to identify initiatives working to enhance healthy food availability, access and use in the South West region of Western Australia (SWWA) and enhance how they functioned as a system. The SWFC project participants included government and community members. This study aimed to understand how a tailored food security website could be developed as a support mechanism to increase understanding of food security, connect participants and enhance the effectiveness of SWFC initiatives. Initiative leaders from the SWFC project (n = 46) were invited to participate in semi-structured telephone interviews which sought to understand needs for a food security website. Fifteen stakeholders completed the interviews (32% response rate). Data relating to desirable and undesirable website components were analysed thematically using QSR NVivo 12. Participants requested the website to include concise content, food security resources, inviting/useful images and information about initiatives. Undesirable features included academic literature, difficult-to-use functions, discussion boards and hard-to-view images. A tailored, co-designed website that is monitored, user-friendly and functional were key stakeholder requirements. A tailored, co-designed food security website that promotes partnership development, builds networks, increases understanding and communication about food security and implementation strategies is needed.

A rights-based approach to food security in Australia.

Publisher: Wiley

Date: 14-02-2021

DOI: 10.1002/HPJA.324

Application of a sustainability framework to enhance Australian food literacy programs in remote Western Australian communities

Publisher: Wiley

Date: 31-03-2022

DOI: 10.1002/HPJA.586

Abstract: Food literacy programs aim to build in iduals’ knowledge, skills and self‐efficacy to adopt healthy food choices conducive to reducing the risk of chronic diseases, such as obesity. Foodbank WA’s (FBWA) Healthy Food for All ® nutrition programs have supported the improvement of food literacy knowledge and skills among vulnerable people living in the Pilbara. A Sustainability Framework containing ten sustainability factors was overlaid with social ecological model (SEM) levels of influence to form a matrix. The use of this matrix facilitated sustainability strategy appraisal within three food literacy programs delivered in remote WA. Programs included multiple sustainability strategies across levels of influence all programs addressed all ten sustainability factors at community and organisational SEM levels of influence. Few sustainability strategies were employed at the public policy level of influence. No program employed formal governance structures to guide program direction, such as steering groups however, school and parent program staff developed Memoranda of Understanding to ensure the continuation of program delivery between the FBWA teams’ regional visits. This study has showcased the comprehensive assessment of food literacy program sustainability across levels of influence and identified gaps for improvement by FBWA teams. The sustainability of food literacy programs aiming to increase knowledge and skills could be enhanced by conducting a similar analysis, during program planning or at program review. Using the matrix provides the opportunity to focus resources to address sustainability supporting health promotion practitioners to transform the impacts of short‐term food literacy interventions into long‐term sustained outcomes.

University Of Minho

Location: Portugal

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University Of The Azores

Location: Portugal

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University Of Western Australia

Location: Australia

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Edith Cowan University

Location: Australia

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Rush Medical College Of Rush University

Location: United States of America

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Nutrition Australia

Location: Australia

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Foodbank WA

Location: Australia

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ICVS And ICVS/3B’s - PT Government Associate Laboratory

Location: Portugal

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A Cross-Sectional Study To Measure And Describe The Association Between Fruit And Vegetable Consumption And Food Security Determinants Among Children (9-13 Years) Living In Regional And Remote Western Australia

Start Date: 2015

End Date: 2016

Funder: Healthway

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Use Of Online Technology To Support Authentic E-assessment And Learning

Start Date: 2019

End Date: 2021

Funder: Edith Cowan University

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