Publications by authors named "F Peluso"
Hereditary congenital facial palsy (HCFP) is a medical condition caused by dysfunction of the seventh cranial nerve. HCFP is characterized by feeding difficulties and dysmorphic features in the orofacial region. In some cases hearing loss, strabismus, limb malformations, and musculoskeletal defects may be associated.
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- Childhood Onset Schizophrenia is a rare mental health issue seen in kids, and it can sometimes be linked to a genetic condition called 22q11.2 Deletion Syndrome.
- The case focuses on a boy who had difficulties with communication, learning, and social skills from a young age, which later developed into Childhood Onset Schizophrenia.
- The report highlights the need to check for 22q11.2 Deletion Syndrome in kids with this type of schizophrenia, especially if they have unusual brain features like Hippocampal Malrotation.
The ARGO-USV (Unmanned Surface Vehicle for ARchaeological GeO-application) is a technological project involving a marine drone aimed at devising an innovative methodology for marine geological and geomorphological investigations in shallow areas, usually considered critical areas to be investigated, with the help of traditional vessels. The methodological approach proposed in this paper has been implemented according to a multimodal mapping technique involving the simultaneous and integrated use of both optical and geoacoustic sensors. This approach has been enriched by tools based on artificial intelligence (AI), specifically intended to be installed onboard the ARGO-USV, aimed at the automatic recognition of submerged targets and the physical characterization of the seabed.
View Article and Find Full Text PDFNovel Insights from Clinical Practice: Xia-Gibbs Syndrome with Pes Cavus, Conjunctival Melanosis, and Eye Asymmetry due to a de novo AHDC1 Gene Variant - A Case Report and a Brief Review of the Literature.
Mol Syndromol
February 2024
Article Synopsis
- * A case study of a 13-year-old girl revealed typical symptoms of the syndrome along with macrocrania, pes cavus, and conjunctival melanosis, and whole-exome sequencing found a new genetic variant.
- * The study emphasizes phenotypic features associated with Xia-Gibbs syndrome and suggests that eye asymmetry, noted in the patient, may be an overlooked characteristic of the condition.
Purpose: BCL11B-related disorder (BCL11B-RD) arises from rare genetic variants within the BCL11B gene, resulting in a distinctive clinical spectrum encompassing syndromic neurodevelopmental disorder, with or without intellectual disability, associated with facial features and impaired immune function. This study presents an in-depth clinico-biological analysis of 20 newly reported individuals with BCL11B-RD, coupled with a characterization of genome-wide DNA methylation patterns of this genetic condition.
Methods: Through an international collaboration, clinical and molecular data from 20 individuals were systematically gathered, and a comparative analysis was conducted between this series and existing literature.