Saint Camillus International University of Health and Medical Sciences

Proteo‐Metabolomic Profiling of PMM2 ‐ CDG Reveals Dysregulation of Retinoic Acid Synthesis, Myo ‐Inositol, and the Hexosamine Pathway

ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG), the most common congenital disorder of glycosylation (CDG), is characterized by multisystem involvement and a lack of disease‐modifying therapies. While previous transcriptomic studies have uncovered disrupted cellular pathways,...

Ultrasound-Guided Retroperitoneoscopic Lumbar Sympathetic Chain Selective Clamping with Indocyanine Green-Assisted Access: A Technical Note

Background: Primary plantar hyperhidrosis is a disabling condition characterized by excessive plantar sweating and impaired quality of life. Lumbar sympathectomy is reserved for patients with symptoms refractory to conservative treatment, but minimally invasive techniques remain...

Genetic characterization of suspected hereditary melanoma in a Central Italy cohort

Approximately 5–12% of cutaneous melanomas arise in a familial context, suggesting hereditary predisposition. Our analysis aims to investigate the clinical and genetic background of melanoma patients living in the Lazio area with a personal and/or family history of melanoma or ot...

Visual Pathways Involvement in Friedreich’s Ataxia Patients Without Macular Impairment

Objectives: Visual Evoked Potential (VEP) abnormalities in Friedreich Ataxia (FA) may result from dysfunction of retinal ganglion cells (RGC), post-retinal visual pathways, or both. Therefore, we aimed to clarify whether in Friedreich Ataxia (FA), abnormal neural conduction is du...

Solving the sum-and-product problem: a geometric solution via the Pythagorean theorem

This article addresses a foundational problem of algebra: finding two numbers x1 and x2 given their sum s and their product p (with s, p>0). This ancient problem, which lies at the historical origin of quadratic equations, was solved geometrically by Babylonian and Greek mathemat...