Identification of regulatory variants associated with genetic susceptibility to meningococcal disease.

Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to infection - under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes

Plasma lipid profiles discriminate bacterial from viral infection in febrile children

Fever is the most common reason that children present to Emergency Departments. Clinical signs and symptoms suggestive of bacterial infection are often non-specific, and there is no definitive test for the accurate diagnosis of infection. The 'omics' approaches to identifying biomarkers from the host-response to bacterial infection are promising. In this study, lipidomic analysis was carried out with plasma samples obtained from febrile children with confirmed bacterial infection (n = 20) and confirmed viral infection (n = 20). We show for the first time that bacterial and viral infection produces distinct profile in the host lipidome. Some species of glycerophosphoinositol, sphingomyelin, lysophosphatidylcholine and cholesterol sulfate were higher in the confirmed virus infected group, while some species of fatty acids, glycerophosphocholine, glycerophosphoserine, lactosylceramide and bilirubin were lower in the confirmed virus infected group when compared with confirmed bacterial infected group. A combination of three lipids achieved an area under the receiver operating characteristic (ROC) curve of 0.911 (95% CI 0.81 to 0.98). This pilot study demonstrates the potential of metabolic biomarkers to assist clinicians in distinguishing bacterial from viral infection in febrile children, to facilitate effective clinical management and to the limit inappropriate use of antibiotics

Plasma lipid profiles discriminate bacterial from viral infection in febrile children

Fever is the most common reason that children present to Emergency Departments. Clinical signs and symptoms suggestive of bacterial infection ar

Comment on Wunsch et al. The Impact of COVID-19 on the Interrelation of Physical Activity, Screen Time and Health-Related Quality of Life in Children and Adolescents in Germany: Results of the Motorik-Modul Study. Children 2021, 8, 98

A recent study concerning the “Impact of COVID-19 on the Interrelation of Physical Activity, Screen Time and Health-Related Quality of Life in Children and Adolescents in Germany” was investigated by Wunsch et al. [...

Climate change and fluid status in children: early education as one response to an emerging public health problem

Abstract Objective: As global warming intensifies, residents of temperate regions will also face heat waves in the near future. Food habits are one component in addressing the global challenge of climate change. However, water, the most important food for humans, has not been adequately addressed. Design: For this commentary, on the one hand, publications on the increasing heat stress of children were consulted. On the other hand, publications on the special demands of children’s temperature regulation in hot environments on fluid balance were analysed. Setting: The situation of young children in care facilities on days with heat stress is presented as a scenario. In this way, the effects of climatic changes on fluid balance can be estimated and measures to reduce heat stress and stabilise the fluid balance of children can be developed. Participants: For this analysis, first, infants will be considered in order to identify their specific fluid needs. Second, the possibilities for caregivers to improve fluid intake and train appropriate drinking habits already in infancy will be highlighted. Results: Climate change should be included in recommendations on hydration for children. The need to adapt drinking habits requires educational approaches to weather and water – starting in early childhood care. Conclusions: In the face of rapid climate change, countries must act now by protecting, preparing and prioritising the high-risk group of children. Particular focus should be placed on supporting adequate hydration

Erucic acid exposure during the first year of life—Scenarios with precise food-based dietary guidelines

Recently, the European Food Safety Authority (EFSA) issued a tolerable daily intake (TDI) for erucic acid, which is mainly found in rapeseed oil. Infants may be exposed to erucic acid from rapeseed oil indirectly through maternal consumption via breastmilk or the fat component in formula, and directly as a part of complementary feeding (CF). To check the safety of infant nutrition, scenarios for erucic acid exposure were calculated based on the daily food amounts of the German dietary guidelines. Information on erucic acid concentrations in foods was obtained from European studies for breastmilk, from EFSA samples for formula powder, and from a representative analysis of rapeseed oil samples in the German retail market. 6 scenarios were calculated for the early milk feeding phase (4 formula feeding, 2 breastfeeding) and 8 scenarios for the later CF phase (5 CF +formula feeding, 3 CF +breastfeeding). Out of the 14 scenarios, only 3 resulted in exposures that were definitively below the TDI (range 4.4.–6.0 mg/kg bodyweight; BW). Assuming either high consumption or high concentration led to high exceedances (range 7.5–26.2 mg/kg BW), especially in case of the new EU limits for formula or vegetable oils (33.6 and 43.2 mg/kg BW, respectively). In our scenarios, high erucic acid exposures occurred during a particularly sensitive developmental period. To definitively weigh the potential risks from erucic acid in infants against nutritional benefits of the dietary recommendations, reliable, timely data on erucic acid in breast milk and formula are needed, similar to those from rapeseed oil in Germany