NutriBase - management system for the integration and interoperability of food- and nutrition-related data and knowledge.

Introduction: Contemporary data and knowledge management and exploration are challenging due to regular releases, updates, and different types and formats. In the food and nutrition domain, solutions for integrating such data and knowledge with respect to the FAIR (Findability, Accessibility, Interoperability, and Reusability) principles are still lacking.

Methods: To address this issue, we have developed a data and knowledge management system called NutriBase, which supports the compilation of a food composition database and its integration with evidence-based knowledge.

In-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia.

Interleukin-1 blockade in patients with Wiskott-Aldrich syndrome: a retrospective multinational case series.

Up to 70% of patients with Wiskott-Aldrich syndrome (WAS) develop autoimmune and inflammatory manifestations. Dysregulation of interleukin 1 (IL-1) may be involved in their pathogenesis, yet there is little evidence on treatment with anti-IL-1 agents in these patients. We conducted a multicenter retrospective analysis of 9 patients with WAS treated with anti-IL-1 agents (anakinra or canakinumab).

Proangiogenic properties of complement protein C1q can contribute to endometriosis.

Endometriosis (EM) is defined as the engraftment and proliferation of functional endometrial-like tissue outside the uterine cavity, leading to a chronic inflammatory condition. While the precise etiology of EM remains elusive, recent studies have highlighted the crucial involvement of a dysregulated immune system. The complement system is one of the predominantly altered immune pathways in EM.

Siglec-1, an easy and contributory inflammation marker in rheumatology.

Objectives: Inflammatory markers such as erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are poorly informative about interferon (IFN)-related disorders. In these conditions, the measure of the interferon score (IS), obtained by measuring the expression of IFN-stimulated genes, has been proposed. Flow cytometry-based assays measuring sialic-acid-binding Ig-like lectin 1 (Siglec-1) expression could be a more practical tool for evaluating IFN-inflammation.

An easy assay to detect autoantibodies neutralizing cytokines in subjects with critical infections.

Autoantibodies against type I interferon (IFN) are associated with a worse outcome in COVID-19. The measurement of cytokine-neutralizing autoantibodies has been limited, hindering understanding of their role in clinical practice. We showed that an easy and reliable assay can be reproduced and validated to measure the neutralizing potency of autoantibodies directed to type I or type II IFN.

Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study.

Background: H Syndrome is a rare genetic condition caused by biallelic pathogenic variants in the SLC29A3 gene. It is characterized by a wide range of clinical manifestations, many of which are related to the immune-rheumatological field. These include scleroderma-like skin changes, deforming arthritis, and enlarged lymph nodes.

Changing the default order of food items in an online grocery store may nudge healthier food choices.

Restructuring food environments, such as online grocery stores, has the potential to improve consumer health by encouraging healthier food choices. The aim of this study was to investigate whether repositioning foods within an experimental online grocery store can be used to nudge healthier choices. Specifically, we investigated whether repositioning product categories displayed on the website main page, and repositioning individual products within those categories, will influence selection.

Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment.

Inborn errors of immunity (IEI) associated with immune dysregulation are not sufficiently addressed in shared recommendation, resulting in delayed diagnosis and high morbidity. The availability of precision medicine for some of these immune defects makes it urgent to evaluate effective strategies to diagnose and treat such defects before the occurrence of severe complications. A diagnosis of an IEI in these patients enabled the use of a more specific treatment in most cases, and these have the potential to prevent further disease progression.

SnackTrack-An App-Based Tool to Assess the Influence of Digital and Physical Environments on Snack Choice.

As food choices are usually processed subconsciously, both situational and food environment cues influence choice. This study developed and tested a mobile app to investigate the association between physical and digital environments on snack choices. SnackTrack was designed and used to collect data on the snack choices of 188 users in real-life settings during an 8-week feasibility trial.

CafeteriaSA corpus: scientific abstracts annotated across different food semantic resources.

In the last decades, a great amount of work has been done in predictive modeling of issues related to human and environmental health. Resolution of issues related to healthcare is made possible by the existence of several biomedical vocabularies and standards, which play a crucial role in understanding the health information, together with a large amount of health-related data. However, despite a large number of available resources and work done in the health and environmental domains, there is a lack of semantic resources that can be utilized in the food and nutrition domain, as well as their interconnections.

CafeteriaFCD Corpus: Food Consumption Data Annotated with Regard to Different Food Semantic Resources.

Besides the numerous studies in the last decade involving food and nutrition data, this domain remains low resourced. Annotated corpuses are very useful tools for researchers and experts of the domain in question, as well as for data scientists for analysis. In this paper, we present the annotation process of food consumption data (recipes) with semantic tags from different semantic resources-Hansard taxonomy, FoodOn ontology, SNOMED CT terminology and the FoodEx2 classification system.

Inadequate Intake of Dietary Fibre in Adolescents, Adults, and Elderlies: Results of Slovenian Representative SI. Menu Study.

Dietary fibre has proven to promote healthy body mass and reduce the risk of non-communicable diseases. To date, in Slovenia, there were only a few outdated studies of dietary fibre intake; therefore, we explored the dietary fibre intake using food consumption data collected in the SI.Menu project.

Mevalonate Kinase Deficiency and Squalene Synthase Inhibitor (TAK-475): The Balance to Extinguish the Inflammation.

Mevalonate Kinase Deficiency (MKD) is a rare inborn disease belonging to the family of periodic fever syndromes. The MKD phenotype is characterized by systemic inflammation involving multiple organs, including the nervous system. Current anti-inflammatory approaches to MKD are only partially effective and do not act specifically on neural inflammation.

Impact of COVID-19 confinement on eating behaviours across 16 European countries: The COVIDiet cross-national study.

We aimed to evaluate the changes in eating behaviours of the adult population across 16 European countries due to the COVID-19 confinement and to evaluate whether these changes were somehow related to the severity of the containment measures applied in each country. An anonymous online self-reported questionnaire on socio-demographic characteristics, validated 14-items Mediterranean diet (MedDiet) Adherence Screener (MEDAS) as a reference of a healthy diet, eating and lifestyle behaviours prior to and during the COVID-19 confinement was used to collect data. The study included an adult population residing in 16 European countries at the time of the survey.

Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies.

RASopathies and mTORopathies are groups of genetic syndromes associated with increased activation of the RAS-MAPK or the PI3K-AKT-mTOR pathway, resulting in altered cell proliferation during embryonic and postnatal development. The RAS-MAPK and the PI3K-AKT-mTOR pathways are connected to each other and play a crucial role in adaptive immunity. However, with the exception of Activated PI3K delta syndrome (APDS), immune function has not been deeply studied in these disorders.

Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation.

Background: Recurrent aphthous stomatitis with systemic signs of inflammation can be encountered in inflammatory bowel disease, Behçet's disease (BD), Systemic Lupus Erythematosus (SLE). In addition, it has been proposed that cases with very early onset in childhood can be underpinned by rare monogenic defects of immunity, which may require targeted treatments. Thus, subjects with early onset recurrent aphthous stomatitis receiving a clinical diagnosis of BD-like or SLE-like disease may deserve a further diagnostic workout, including immunologic and genetic investigations.

Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.

Primary immunodeficiencies (PIDs) are a large and growing group of disorders commonly associated with recurrent infections. However, nowadays, we know that PIDs often carry with them consequences related to organ or hematologic autoimmunity, autoinflammation, and lymphoproliferation in addition to simple susceptibility to pathogens. Alongside this conceptual development, there has been technical advancement, given by the new but already established diagnostic possibilities offered by new genetic testing (e.

Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency.

Primary immunodeficiency (PID) with immune dysregulation may present with early onset gastrointestinal autoimmune disorders. When gastrointestinal autoimmunity is associated with multiple extraintestinal immune system dysfunction the diagnosis of PID is straightforward. However, with the advent of next generation sequencing technologies, genetic defects in PID genes have been increasingly recognized even when a single or no extraintestinal signs of immune dysregulation are present.

Case Report: Use of Anakinra in Multisystem Inflammatory Syndrome During COVID-19 Pandemic.

During COVID-19 outbreak, a large number of children with severe inflammatory disease has been reported. This condition, named Pediatric Multi-inflammatory Syndrome temporally associated with COVID-19 (PIMS-TS) or Multisystem Inflammatory Syndrome associated with Coronavirus Disease 2019 (MIS-C), shares some clinical features with Kawasaki disease and is frequently complicated by myocarditis or shock. It has been suggested that MIS-C belongs to the group of cytokine storm syndromes triggered by SARS-CoV-2 infection.