Search Results (2)

Background/Objectives: Symptoms of pudendal nerve neuropathy may overlap with various symptoms of interstitial cystitis (IC). As documented, there is a well-established correlation between the genes involved in ATP metabolism, neuropathy, and IC. ATP-binding cassette (ABC) transporters genes, in fact, are vital for ATP signaling. This study aims to associate the ABCF2 gene with a suspected pudendal nerve neuropathy and IC. Methods: Histological analysis was conducted for diagnosing IC while the genetic variant was identified by whole exome sequencing (WES) Trio and confirmed through Sanger. Results: We report a patient with IC, confirmed by histological examination, presenting with a suspected bladder and pudendal nerve neuropathy, though not analytically confirmed. Histological analysis revealed urothelial detachment caused by a dense subepithelial lymphocytic infiltrate, predominantly composed of mast cells, which serve as key diagnostic markers for interstitial cystitis (IC). WES analysis identified the heterozygous genetic variant c.1253T>G p.Phe418Cys within ABCF2 gene, precisely in its functional domain which actively operates in the hydrolysis of ATP energizing various biological systems. As reported, this gene displays high expression patterns in bladder tissue. The variant, absent in the healthy brother, was inherited from the father which presents mosaicism. The in silico prediction analyses classified this variant as pathogenic, identifying potential alterations in the protein structure. Conclusions: Although the precise role of ABCF2 should be supported by further studies, we hypothesize that its disruption might impair ATP metabolism, likely altering the nociceptive response and leading to the patient’s neuropathy. Further analyses are imperative to validate this research, for laying the groundwork for a specific therapy targeting the genetic dysregulation involved in this condition. Full article

This systematic review aims to provide an overview of the diagnostic methods, preventive strategies, and therapeutic approaches for cyclists suffering from pudendal neuropathy. The study defines a guide in delineating a diagnostic and therapeutic protocol using the best current strategies. Pubmed, EMBASE, the Cochrane Library, and Scopus Web of Science were searched for the terms: “Bicycling” OR “Bike” OR “Cyclists” AND “Neuropathy” OR “Pudendal Nerve” OR “Pudendal Neuralgia” OR “Perineum”. The database search identified 14,602 articles. After the titles and abstracts were screened, two independent reviewers analyzed 41 full texts. A total of 15 articles were considered eligible for inclusion. Methodology and results of the study were critically appraised in conformity with PRISMA guidelines and PICOS criteria. Fifteen articles were included in the systematic review and were used to describe the main methods used for measuring the severity of pudendal neuropathy and the preventive and therapeutic strategies for nerve impairment. Future research should determine the validity and the effectiveness of diagnostic and therapeutic strategies, their cost-effectiveness, and the adherences of the sportsmen to the treatment. Full article