E. Verduci

Effects of dietary interventions on gut microbiota and related cardiometabolic changes in pediatric obesity: a systematic review and meta-analysis.

BACKGROUND Gut microbiota imbalances may contribute to obesity, yet whether dietary interventions can modulate the microbiota and improve metabolic health in pediatrics has not been thoroughly reviewed. This systematic review and meta-analysis explores the impact of dietary interventions on the gut microbiota of childr...

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

A novel case of the PUS7-related disorder, which was diagnosed in a young girl referred to the authors' center following a misdiagnosis of Kleefstra Syndrome type 2, and its similarities with a main spliceosomopathy, ReNU syndrome are investigated, suggesting that disorders of pseudouridylation might possibly be includ...

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.