Necrotizing Enterocolitis (NEC) is a catastrophic disease affecting predominantly premature infants and is characterized by high mortality and serious long-term consequences. Traditionally, diagnosis of NEC is based on clinical and radiological findings, which, however, are non-specific for NEC, thus confusing differential diagnosis of other conditions such as neonatal sepsis and spontaneous intestinal perforation. In addition, by the time clinical and radiological findings become apparent, NEC has already progressed to an advanced stage. During the last three decades, a lot of research has focused on the discovery of biomarkers, which could accurately predict and make an early diagnosis of NEC. Biomarkers used thus far in clinical practice include acute phase proteins, inflammation mediators, and molecules involved in the immune response. However, none has been proven accurate enough to predict and make an early diagnosis of NEC or discriminate clinical from surgical NEC or other non-NEC gastrointestinal diseases. Complexity of mechanisms involved in NEC pathogenesis, which remains largely poorly elucidated, could partly explain the unsatisfactory diagnostic performance of the existing NEC biomarkers. More recently applied technics can provide important insight into the pathophysiological mechanisms underlying NEC but can also aid the detection of potentially predictive, early diagnostic, and prognostic biomarkers. Progress in omics technology has allowed for the simultaneous measurement of a large number of proteins, metabolic products, lipids, and genes, using serum/plasma, urine, feces, tissues, and other biological specimens. This review is an update of current data on emerging NEC biomarkers detected using proteomics and metabolomics, further discussing limitations and future perspectives in prediction and early diagnosis of NEC.

Dietary patterns may have a role in the prevention of functional gastrointestinal disorders (FGIDs). The current study aimed at examining the association between FGIDs and adherence to the Mediterranean diet (MD) among elementary school children (ESC), as well as high school students (HSS). In a prospective cohort study, data from 1116 subjects (387 ESC and 448 HSS) aged 6–18 years were collected. FGID identification was based on the Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III (QPGS-RIII). Adherence to the MD was assessed using the KIDMED Index. Full data were available on 835/1116 questionnaires. Based on Rome III criteria, 184/835 participants (22%) were identified with FGID (122 (66%) with functional constipation (FC)). The prevalence of FGIDs (p = 0.001) was significantly higher in HSS (13–18 years). The KIDMED score in the cohort was 5.7 ± 2.5. Subjects with FGIDs demonstrated a lower KIDMED score compared to the non-FGID group, both in the cohort, as well as in the ESC and HSS subgroups (FGID vs. non-FGID: p = 0.001, p = 0.007, and p = 0.032, respectively). Multivariate analysis highlighted the KIDMED score as a significant predictor of FGIDs and FC after controlling for the age subgroups. We conclude that good adherence to the MD is associated to lower prevalence of FGIDs, while adolescents display a significantly higher prevalence of FGIDs compared to children.

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, x-linked, recessive disorder characterized by dysfunction of the T regulatory (Treg) lymphocytes leading to autoimmune diseases. Herein we report a male patient with IPEX syndrome who presented with severe diarrhea, eczema, and malabsorption leading to failure to thrive and necessitating total parenteral nutrition, as well as with liver dysfunction. Laboratory investigation showed elevated liver enzymes that declined following treatment with glucocorticosteroids and immunosuppressive drugs, marked eosinophilia, increased total IgE, and decreased Treg cells. DNA analysis revealed that the patient himself was hemizygous and his mother heterozygous for the exon 10, c.1015C>T (p.Pro339Ser) mutation of the FOXP3 gene, which has not been previously reported. The current case indicates that mutations resulting in substitution of a certain amino-acid (i.e., proline 339) by different amino-acids are manifested with different IPEX phenotypes.

Background-Objective: With recent evidence suggesting that growth is no longer considered a major issue in children with food allergies (FA) on elimination diet, priority has shifted to diet quality to establish healthy eating patterns and prevent non-communicable diseases. The Diet Quality Index – International (DQI-I) could be useful for assessing the overall diet quality of FA-children. This study aimed to evaluate the impact of elimination diet on DQI-I in children with FA and the accuracy of DQI-I in reflecting nutrient intake.Materials-methods: In a prospective, cross-sectional, cohort study of FA-children (2–14 years), nutritional intake was evaluated using a 7-day food frequency questionnaire, 24-h dietary recall, and the DQI-I.Results: Of the 76 children recruited, 44.7% had multiple allergies. Mean overall DQI-I score was 52 points, with only 28% of participants having good overall DQI-I (≥60 points). DQI-I moderation and balance were the most affected domains. Participants with multiple allergies had higher DQI-I moderation and balance and lower vitamin D and Ca intake. Compared to toddlers, schoolchildren had higher DQI-I variety and lower moderation and received higher vitamin B2, vitamin B12, Ca, P, and Zn. The number of allergies, age, and milk avoidance were independently associated with adjusted DQI-I moderation and balance, energy, and certain micronutrient intake. Higher percentages of participants with good DQI-I received adequate amounts of Mn and vitamins A, B6, C, and folate than those with poor DQI-I.Conclusions: In children with FA on elimination diet, the DQI-I accurately captured the deflection of diet quality related to the development of chronic, non-communicable diseases through its moderation and balance components. This is DQI-I's main purpose as a healthy diet indicator and as such it would be a useful tool responding to the needs of the contemporary shifting of priorities in FA-children's diet from quantity to quality. Nevertheless, it does not accurately reflect the intake of certain micronutrients potentially compromised by elimination diets. Therefore, regular nutritional assessment utilizing both the DQI-I and tools assessing individual nutrient intakes along with professional nutrition counseling should be integral parts of the individualized management of children with FA to ensure adequate nutrient intake and establish healthy dietary patterns.

The aim was to investigate the effect of two own mother’s milk (OMM) fortification protocols on (a) IGF-I and ghrelin plasma levels at 35 post-conceptional weeks (PCW, T2) and whether this effect is maintained after elimination of the differences in OMM fortification, and (b) growth until 12 months corrected age. Forty-eight OMM-fed preterm infants (GA 24–32 weeks) were randomly allocated to the fixed-fortification (FF) group (n = 23) and the protein-targeting fortification (PTF) group (n = 25) targeting the recommended daily protein intake (PI). Plasma IGF-I and ghrelin were assessed at 35 (T2) and 40 (T3) PCW while growth was longitudinally assessed until 12 months corrected age. PTF group had lower IGF-I and higher ghrelin than FF group at T2, while receiving lower daily protein and energy amounts. PI correlated positively to T2-IGF-I and inversely to T3-ghrelin while energy intake (EI) correlated inversely to T2- and T3-ghrelin. Group and PI were independent predictors of adjusted T2-IGF-I, while group and EI were predictors of adjusted and T2-ghrelin. Growth parameter z-scores were comparable between groups up to 12 months corrected age. Modifications of OMM fortification have a transient effect on early plasma IGF-I and ghrelin levels in preterm infants in a way consistent with the previously recognized protein-energy/endocrine balance, indicating a potential programming effect.