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Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disease characterized by severe and childhood onset organ-specific autoimmunity caused by mutations in the autoimmune regulator (AIRE) gene. More recently, dominant-negative mutations within the PHD1, PHD2, and SAND domains have been associated with an incompletely penetrant milder phenotype with later onset familial clustering, often masquerading as organ-specific autoimmunity. Patients with immunodeficiencies or autoimmunity where genetic analyses revealed heterozygous AIRE mutations were included in the study and the dominant-negative effects of the AIRE mutations were functionally assessed in vitro. We here report additional families with phenotypes ranging from immunodeficiency, enteropathy, and vitiligo to asymptomatic carrier status. APS-1-specific autoantibodies can hint to the presence of these pathogenic AIRE variants although their absence does not rule out their presence. Our findings suggest functional studies of heterozygous AIRE variants and close follow-up of identified individuals and their families. ispartof: ISCIENCE vol:26 issue:6 ispartof: location:United States status: published

The G20 is an intergovernmental and multilateral platform comprised of 19 countries and the European Union, which connects prosperous high-income and emerging middle-income countries worldwide. The G20 process could prioritize food systems to address climate change challenges. For this paper, the research team reviewed the G20 countries’ recommendations in national food-based dietary guidelines (FBDGs) for red and processed meat (RPM) compared with available per capita consumption data and expert-recommended targets to promote healthy and sustainable food systems. The results reveal that Indonesia, India and Saudi Arabia have the least red meat available for consumption (less than 10 kilograms (kg) per person per year). Other G20 countries exceed the recommended red meat target of less than or equal to 26 kg per person per year. Sixteen G20 countries have translated their national guidelines into FBDG food graphics for the public. Twelve G20 countries recommend that people limit their RPM daily or weekly to reduce cancer and heart disease risks. Australia, France, Italy, Mexico and the United Kingdom of Great Britain and Northern Ireland align RPM targets with recommendations to limit cooked red meat intake to three or fewer servings (350-500 grams) a week. Six G20 countries (Brazil, Canada, Germany, India, Italy and the United Kingdom of Great Britain and Northern Ireland) recommend minimally processed, plant-rich food choices or environmentally sustainable dietary patterns. The G20 meetings in Indonesia (2022), India (2023) and Brazil (2024) should prioritize and harmonize healthy and sustainable food system policies with international trade policies to mitigate climate change effects and manage sustainability trade-offs. Published version

Adults with lower incomes are disproportionately affected by poverty, food insecurity, obesity, and diet-related non-communicable diseases (NCDs). In 2020-2021 amid the coronavirus disease 2019 (COVID-19) pandemic, the United States Department of Agriculture (USDA) expanded the Supplemental Nutrition Assistance Program (SNAP) Online Purchasing Pilot program to enable eligible participants to purchase groceries online in 47 states. This expansion underscores the need for SNAP adults to have digital literacy skills to make healthy dietary choices online. Currently, a digital literacy model does not exist to help guide USDA nutrition assistance policies and programs, such as SNAP. We conducted a systematic scoping review of the academic and gray literature to identify food, nutrition, health, media, financial, and digital literacy models. The search yielded 40 literacy models and frameworks that we analyzed to develop a Multi-dimensional Digital Food and Nutrition Literacy (MDFNL) model with five literacy levels (i.e., functional, interactive, communicative, critical, and translational) and a cross-cutting digital literacy component. Utilization of the MDFNL model within nutrition assistance policies and programs may improve cognitive, behavioral, food security, and health outcomes and support equity, well-being, digital inclusion, and healthy communities to reduce obesity and NCD risks. Robert Wood Johnson Foundation Published version Robert Wood Johnson Foundation

The United States (U.S.) Department of Agriculture (USDA)-administered Supplemental Nutrition Assistance Program (SNAP) made substantial changes in response to the coronavirus disease 2019 (COVID-19) pandemic. These changes highlight the need to identify the digital literacy skills and capacities of SNAP adults to purchase healthy groceries online. We conducted a scoping review of four electronic databases, Google and Google Scholar to identify studies that measured food and nutrition literacy outcomes for U.S. adults. We applied a multi-dimensional digital food and nutrition literacy (MDFNL) model to assess six literacy levels and components. Of 18 studies published from 2006–2021, all measured functional and interactive literacy but no study measured communicative, critical, translational, or digital literacy. Six studies examined SNAP or SNAP-Education outcomes. Adults with higher food or nutrition literacy scores had better cognitive, behavioral, food security and health outcomes. We suggest how these findings may inform research, policies, and actions to strengthen the multi-dimensional literacy skills of SNAP participants and SNAP-eligible adults to support healthy purchases in the online food retail ecosystem. Published version

Background: The coronavirus (COVID-19) pandemic disrupted the food supply, distribution and services and led to major changes in the federal government’s safety-net programs. This paper synthesizes evidence for the literacy needs of Supplemental Nutrition Assistance Program (SNAP) eligible adults who receive benefits from the United States Department of Agriculture (USDA) to purchase groceries in an online food retail ecosystem. Methods: We conducted a scoping review of four electronic databases and gray literature sources to synthesize evidence in a narrative review to recommend actions for U.S. institutions. Step 1 identified health, food, nutrition, digital, media and marketing literacy frameworks and models to develop a multi-dimensional literacy model to inform policies for SNAP participants operating in an online food retail ecosystem. Step 2 identified U.S. cross-sectional or intervention studies that evaluated food or nutrition literacy including SNAP-eligible adults, and the multi-dimensional literacy model was used to evaluate these studies. Both steps informed recommended policies and actions to strengthen SNAP participants’ literacy skills for healthy grocery purchases online. Results: We examined 40 literacy frameworks to develop a multi-dimensional, five-step, digital food and nutrition literacy model that included functional, interactive, communicative, critical and translational literacy. We used the model to review and evaluate 18 U.S. food and nutrition literacy studies. While adults with higher food or nutrition literacy scores had better cognitive, behavioral, food security or health status outcomes, there were no consistent findings across the studies. No frameworks examined digital literacy, three studies reported using a conceptual framework, and six studies examined SNAP or SNAP-Education (SNAP-Ed) outcomes. The results are used to recommend policies and actions for the U.S. Congress and federal agencies to strengthen the digital food and nutrition literacy infrastructure; and for USDA, industry, foundations, researchers and civil society organizations to address the digital food and nutrition literacy needs of SNAP adults who order groceries online. Conclusions: The post-COVID food shopping trends underscore the need to enable SNAP participants at risk of food insecurity to develop many types of literacy skills to navigate the in-store “path to purchase” to the online digital food ecosystem in order to make healthy food and beverage product choices that align with the Dietary Guidelines for Americans (DGA) 2020-2025 and USDA’s MyPlate. Future research should test this multi-dimensional food and nutrition literacy model, validate metrics to measure progress to achieve the outcomes, and develop dissemination tools tailored for SNAP participants. Diverse strategies could be implemented by U.S. government agencies, retailers, foundations and non-governmental organizations to strengthen digital literacy and the infrastructure for a healthy online food retail ecosystem. Healthy Eating Research, A National Program of the Robert Wood Johnson Foundation Unpublished version