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Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by heterogeneous cognitive, behavioral and communication impairments. Disruption of the gut-brain axis (GBA) has been implicated in ASD although with limited reproducibility across studies. In this study, we developed a Bayesian differential ranking algorithm to identify ASD-associated molecular and taxa profiles across 10 cross-sectional microbiome datasets and 15 other datasets, including dietary patterns, metabolomics, cytokine profiles and human brain gene expression profiles. We found a functional architecture along the GBA that correlates with heterogeneity of ASD phenotypes, and it is characterized by ASD-associated amino acid, carbohydrate and lipid profiles predominantly encoded by microbial species in the genera Prevotella, Bifidobacterium, Desulfovibrio and Bacteroides and correlates with brain gene expression changes, restrictive dietary patterns and pro-inflammatory cytokine profiles. The functional architecture revealed in age-matched and sex-matched cohorts is not present in sibling-matched cohorts. We also show a strong association between temporal changes in microbiome composition and ASD phenotypes. In summary, we propose a framework to leverage multi-omic datasets from well-defined cohorts and investigate how the GBA influences ASD.

Author(s): Flaminia Bardanzellu [sup.1] , Maria Antonietta Marcialis [sup.1] , Roberta Frassetto [sup.1] , Alice Melis [sup.1] , Vassilios Fanos [sup.1] Author Affiliations: (1) grid.7763.5, 0000 0004 1755 3242, Neonatal [...], Hyponatremia, especially if acute and severe, can be a life-threatening condition. Several conditions can trigger hyponatremia. In this review, we will discuss two conditions that can determine euvolemic hyponatremia: the cerebral/renal salt wasting (CRSW) syndrome and the syndrome of inappropriate secretion of antidiuretic hormone (SIADH), including the two subtypes: reset osmostat (RO) and nephrogenic syndrome of inappropriate antidiuresis (NSIAD) and their differential diagnoses. Despite the passage of over 70 years since its first description, to date, the true etiopathogenesis of CRSW syndrome, a rare cause of hypovolemic/euvolemic hyponatremia, is almost unknown. SIADH, including RO and NSIAD, is sometimes difficult to differentiate from CRSW syndrome; in its differential diagnosis, the clinical approach based on the evaluation of the extracellular volume (ECV) was proven insufficient. We therefore suggest a simple diagnostic algorithm based on the assessment of the degree of hyponatremia, urinary osmolality, and the assessment of the fraction of urate excretion (FEUa) in conditions of hyponatremia and after serum sodium correction, to be applied in children over 1 year of life.

Osteoarthritis (OA) and rheumatoid arthritis (RA) are joint diseases that share similar clinical features but have different etiologies, making a differential diagnosis particularly challenging. Background/Objectives: Utilizing advanced machine learning (ML) techniques on metabolomic data, this study aimed to identify key metabolites in synovial fluid (SF) that could aid in distinguishing between OA and RA. Methods: Metabolite data from the MetaboLights database (MTBLS564), analyzed using nuclear magnetic resonance (NMR), were processed using normalization, a principal component analysis (PCA), and a partial least squares discriminant analysis (PLS-DA) to reveal prominent clustering. Results: Decision forests and random forest classifiers, optimized using genetic algorithms (GAs), highlighted a selection of a few metabolites—primarily glutamine, pyruvate, and proline—with significant discriminative power. A Shapley additive explanations (SHAP) analysis confirmed these metabolites to be pivotal predictors, offering a streamlined approach for clinical diagnostics. Conclusions: Our findings suggest that a minimal set of key metabolites can effectively be relied upon to distinguish between OA and RA, supported by an optimized ML model achieving high accuracy. This workflow could streamline diagnostic efficiency and enhance clinical decision-making in rheumatology. [ABSTRACT FROM AUTHOR]

Author(s): Bassem J. Khoory [sup.1] , Maya W. Keuning [sup.2] , Anne C. Fledderus [sup.3] , Roberta Cicchelli [sup.4] , Vassilios Fanos [sup.5] , Janin Khoory [sup.6] , Deborah Nervi [...], Objectives Italy was affected greatly by Coronavirus disease 2019 (COVID-19), emerging mainly in the Italian province of Lombardy. This outbreak led to profound governmental interventions along with a strict quarantine. This quarantine may have psychosocial impact on children and parents in particular. The aim of this study was to evaluate the impact of 8 weeks COVID-19 quarantine on psychosocial functioning of Italian parents and their children. Methods In this cross-sectional survey, we included parents and children resided in Italy during the 8 weeks COVID-19 quarantine. We evaluated social and emotional functioning, clinical symptoms possibly related to emotional distress, and change in perspectives using a questionnaire. Results The majority of 2315 parents (98% mothers) frequently experienced fear of getting ill (92%) and fluctuating moods (84%), the latter showing correlation to experiencing stress due to being in continuous close vicinity to their children (77%, r = 0.33). Parents reported a positive effect on the relationship with their partner (79%) and their children (89%). Irritability in children was frequent (74%) and correlated to parental fluctuating moods (r = 0.40). The vast majority of the participants (91%) reported that their perspectives for the future had changed. Conclusions for Practice Our findings suggest a profound impact of the COVID-19 quarantine on emotional functioning of parents and their children in Italy. Despite the protective measure of quarantine against national viral spread and subsequent infection, health care professionals should be aware of this emotional impact, in order to develop protective or therapeutic interventions.

Exposure to endocrine-disrupting chemicals (EDCs) is inevitable, and growing scientific evidence indicates that even very low doses can negatively impact human health, particularly during pregnancy and the neonatal period. As part of the European project LIFE18 ENV/IT/00460, this study aims to identify the presence of EDCs in 20 infant formulas (both powdered and liquid) and the release from baby bottles and teats. Particularly, sensitization of young people and future parents towards the potential harmful effects of EDCs could significantly help to reduce exposure. Seven different UPLC-MS/MS methodologies and one ICP-AES were set up to quantify already assessed and suspected EDCs among 85 different chemicals (bisphenols, parabens, PAHs, phthalates, pesticides, herbicides and their main metabolites, PFAS, and metals). Results showed that in 2 out of 14 baby bottles, only anthracene and phenanthrene of the group of PAHs were released (10.68–10.81 ng/mL). Phthalates such as mono-ethyl phthalate (MEP) were found in 9 of 14 samples (0.054–0.140 ng/mL), while mono(2-ethyl-5-oxohexyl) phthalate (MeOHP) appeared in 2 samples (0.870–0.930 ng/mL). In accordance with current EU regulations, other chemicals were not detected in baby bottles and teats. However, bisphenols, parabens, PAHs, phthalates, PFAS, and metals were detected in infant formula, emphasizing the need for continued monitoring and public health interventions. [ABSTRACT FROM AUTHOR]

The postpartum period represents a critical phase of profound transition for women. This timeframe encompasses the physical recuperation associated with childbirth, the intricate psychosocial adjustments inherent in assuming the role of motherhood and also important alterations in steroid and peptide hormones. Hence, as women navigate the reconfiguration of relationships and strive to address the diverse needs of their infants and family members, they concurrently grapple with dramatic transformations which are characteristic of the postpartum phase. In fact, relevant prevalence ranges are reported for maternity blues, a mild condition characterized by self-limited and transient depressive symptoms, but also a well-established risk factor for more serious postpartum mood disorders, such as depression (PPD), with an incidence of 10–15%. Unlike in the US, at the European level, there are no concrete recommendations for the routine integration of the assessment of the mother's emotional state by healthcare professionals, with a considerable risk of underdiagnosing or undertreating these conditions. In this regard, there is a growing body of scientific evidence on the important role of breastfeeding in reducing the risk of PPD and also of the importance of mothers' compliance with this practice. Indeed, sucking the baby regulates the circadian rhythm of the HPA axis and, together with the action of prolactin, the stress response is decreased. In addition, other positive consequences of breastfeeding, which are inversely correlated with the onset of PPD, include the regulation of sleep and waking patterns for mother and baby, the improvement of the mother's self-efficacy and her emotional involvement. It should also be considered that the request for support for breastfeeding can often conceal a request for support for motherhood itself and for the mother's emotional well-being. It therefore emerges that the personnel involved in primary pediatric care to provide adequate support in the transition to motherhood must support mothers in their breastfeeding choices, whether breastfeeding or formula feeding, so that each choice is made conscientiously and serenely. Therefore, neonatal feeding assumes a decisive role, since if, on the one hand, it regulates specific neurohormonal pathways that are protective for maternal emotional well-being (breastfeeding), on the other hand, support in mothers' breastfeeding choices, even in the case of formula feeding, means validating their being mothers in the absence of judgement and counteracting any feelings of inadequacy, conditions that are inversely correlated to DPP. [ABSTRACT FROM AUTHOR]

Assisted reproductive technology (ART) is an emerging field in medicine that incorporates complex procedures and has profound ethical, moral, social, religious, and economic implications not just for the individuals who have access to this method but also for society. In this narrative review, we summarise multiple aspects of ART procedures and the possible consequences on the mother and newborn. Moreover, we provide an overview of the possible long-term consequences of ART procedures on the health of newborns, although longitudinal evidence is particularly scant. Users should be informed that ART procedures are not risk-free to prepare them for the possible negative outcomes that may occur in the perinatal period or even in childhood and adulthood. Indeed, risk estimates point to increased liability for major nonchromosomal birth defects; cardiovascular, musculoskeletal, and urogenital (in male newborns) defects; and any other birth defects. Less certainty is present for the risk of neuropsychiatric sequelae in children conceived through ART. Thus, its application should be accompanied by adequate counselling and psychological support, possibly integrated into specific multidisciplinary clinical programmes. [ABSTRACT FROM AUTHOR]

Recent findings of stem/progenitor cells in maternal milk and their ability to cross the intestinal barrier of lactating newborns and integrate into neonatal organs to promote optimal child development present a new challenge in perinatal medicine. These findings emphasize the need for all mothers to breastfeed their babies for a long time. According to recent research, breastfeeding protects the lactating newborn from multiple infectious agents that can cause severe and fatal early infancy diseases. The second benefit is that maternal stem cells accelerate the development of several organs, including the brain, protecting lactating infants from severe childhood and adult diseases. The success and diffusion of exclusive breastfeeding, especially in low-resource settings, depends on mothers' knowledge of the many benefits for their child, including recent discoveries on breastfeeding's powerful benefits. Every mother may need simple booklets to learn about the unique benefits of maternal breastfeeding, including the nutrients and multiple cell types that protect the newborn from infections and accelerate neonatal organ development. Social media should also be encouraged to spread news about breastfeeding and maternal stem cells' impact on lactating infants' health. Health belief model interventions may boost breastfeeding. In conclusion, the discovery of massive amounts of cells in maternal milk and the identification of stem/progenitors with previously unknown potential in newborn development after birth should be considered a new valuable tool for exclusive breastfeeding advocates. Data here suggests that every action to spread this message and educate mothers and families about breastfeeding's irreplaceable role is mandatory. [ABSTRACT FROM AUTHOR]

Necrotizing enterocolitis (NEC) represents the most common and lethal acute gastrointestinal emergency of newborns, mainly affecting those born prematurely. It can lead to severe long-term sequelae and the mortality rate is approximately 25%. Furthermore, the diagnosis is difficult, especially in the early stages, due to multifactorial pathogenesis and complex clinical pictures with mild and non-specific symptoms. In addition, the existing tests have poor diagnostic value. Thus, the scientific community has been focusing its attention on the identification of non-invasive biomarkers capable of prediction, early diagnosis and discriminating NEC from other intestinal diseases in order to intervene early and block the progression of the pathology. In this regard, the use of "omics" technologies, especially metabolomics and microbiomics, could be a fundamental synergistic strategy to study the pathophysiology of NEC. In addition, a deeper knowledge of the microbiota–host cross-talk can clarify the metabolic pathways potentially involved in the pathology, allowing for the identification of specific biomarkers. In this article, the authors analyze the state-of-the-art concerning the application of metabolomics and microbiota analysis to investigate this pathology and discuss the future possibility of the metabolomic fingerprint of patients for diagnostic purposes. [ABSTRACT FROM AUTHOR]