E. Verduci

Association of three different dietary patterns with the metabolomic profiles of children: the BiomarKid project

Metabolomics offers a promising approach to objectively assess food intake and nutrition-related health risks. Three different dietary patterns (DPs) associated with cardiometabolic health were previously identified at 2 years of age in the EU Childhood Obesity Project and were used as reference patterns for longitudin...

Understanding the gut microbiota to shape the future of intestinal failure care: a systematic review of the evidence

From Misdiagnosis to Discovery: Expanding the Spectrum of Spliceosomopathies

Background: Defining a genetic diagnosis is a challenging and stepwise process, often limited by current knowledge perspectives. Alterations in non-coding RNAs and in their modulating mechanisms are now emerging as one of the main possible explanations underpinning many unsolved cases of neurodevelopmental disorders. T...

Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants

The findings expand the evidence that pathogenic MECP2 variants can produce neurological phenotypes distinct from classic RTT, including mild neurodevelopmental impairment without regression, and predominantly cerebellar or spastic-ataxic manifestations associated with limited cognitive involvement.