A new autochthonous case of amebiasis in Italy in a patient without risk factors: an alert for clinicians and laboratorians.

We describe a rare case of intestinal amebiasis of unknown source, in an immunocompetent patient with no risk factors. The detection of an autochthonous strain causing ulcerative colitis (UC) in a healthy individual was unexpected, but it was the second time it had occurred in Italy in a few months therefore, it highlighted the urgency to establish a new approach in the diagnosis of UC and more generally in the diagnosis of inflammatory bowel disease, involving routine parasitological investigation even in a non-endemic area.

Case Report: White-Sutton syndrome and cannabidiol, an update on a reported patient with a successful response to off--label therapy.

White-Sutton syndrome (WSS), associated with gene mutations, is a rare genetic disorder characterized by a spectrum of phenotypic features, including intellectual disabilities, developmental delays, and epilepsy. A case report described a female patient diagnosed with WSS who experienced seizures resistant to conventional antiseizure medications. Despite various therapeutic attempts, including valproate, topiramate, levetiracetam, clobazam, rufinamide, and vigabatrin, the patient's seizures persisted.

AUTS2-related Syndrome: Insights from a large European cohort.

Purpose: AUTS2-related syndrome is a condition characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters AUTS2 encodes two distinct long and short isoforms encoding a putative transcriptional activator.

Methods: Through a European collaborative study, we collected clinical and genotype data on the largest AUTS2- related syndrome cohort of 58 patients harboring genomic rearrangements or single nucleotide variants (SNVs).

Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings.

Background/objectives: ZNF711(Zinc finger protein 711) encodes a zinc finger protein of currently undefined function, located on the X chromosome. Current knowledge includes a limited number of case reports where this gene has been exclusively associated with X-linked intellectual disability (XLID). As far as we are aware, we report the first cases of epilepsy associated with this particular variant.

Clinical Presentations of Celiac Disease: Experience of a Single Italian Center.

Background/objectives: In Italy, the prevalence of celiac disease (CeD) among children exceeds 1.5% and has steadily increased with a linear trend over the past 25 years. The clinical presentation is heterogenous and a change in onset symptoms has been described in recent years.