39 research outputs found

    Multi-level analysis of the gut-brain axis shows autism spectrum disorder-associated molecular and microbial profiles

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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

    Hyponatremia and hypernatremia in the newborn: in medio stat virtus

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    Hyponatremia and hypernatremia are complex clinical problems that occur frequently in full term newborns and in preterm infants admitted to the Neonatal Intensive Care Unit (NICU) although their real frequency and etiology are incompletely known. Pathogenetic mechanisms and clinical timing of hypo-hypernatremia are well known in adult people whereas in the newborn is less clear how and when hypo-hypernatremia could alter cerebral osmotic equilibrium and after how long time brain cells adapt themselves to the new hypo-hypertonic environment. Aim of this review is to present a practical approach and management of hypo-hypernatremia in newborns, especially in preterms

    Neonatal onset of nephrogenic syndrome of inappropriate antidiuresis

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    This paper describes the manifestation in a child of a new syndrome characterized by unusual, severe, persistent hyponatremia associated with hyposmolarity, euvolemia, inappropriately concentrated urine and elevated natriuresis. This is the fourth case of this syndrome reported to date, and the first to be reported in a neonate. The clinical features resemble those typically observed in patients with inappropriate antidiuretic hormone secretion, although high arginine vasopressin (AVP) levels are lacking. The findings led the authors to hypothesise a nephrogenic syndrome of inappropriate antidiuresis (NSIAD). The previously described R137C gain-of-function mutation was detected by means of mutation analysis of the V2R gene. Our results indicate that NSIAD is already present during the neonatal period and that molecular analysis of the V2R receptor should therefore be carried out, in all newborns with prolonged euvolemic hyponatremia with hypo-osmolarity, high urinary sodium and normal/low or undetectable AVP levels
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