Replay to: Phenotypic spectrum of POLG1 mutations.

Neurol Sci

Department of Medicine, Surgery and Neuroscience, University of Siena, Viale Bracci 2, 53100, Siena, Italy.

Published: March 2018

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-017-3229-6DOI Listing

Publication Analysis

Top Keywords

replay phenotypic
4
phenotypic spectrum
4
spectrum polg1
4
polg1 mutations
4
replay
1
spectrum
1
polg1
1
mutations
1

Similar Publications

About 20% of patients with diabetes suffer from chronic pain with neuropathic characteristics. We investigated the multivariate associations between 92 neurology-related proteins measured in serum from 190 patients with painful and painless diabetic neuropathy. Participants were recruited from the Pain in Neuropathy Study, an observational cross-sectional multicentre study in which participants underwent deep phenotyping.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates the reasons behind why some patients experience painful polyneuropathy while others do not, utilizing data from 1181 patients in the DOLORISK database.
  • Researchers used multivariate logistic regression and machine learning to identify key factors related to painful neuropathy, including severity of neuropathy, family history of chronic pain, fatigue, depression scores, and pain-related worrying.
  • The findings suggest that emotional and clinical factors play a significant role in the development of painful neuropathy, with predictive models achieving over 76% accuracy, which could help in identifying patients at risk in the future.
View Article and Find Full Text PDF
Article Synopsis
  • Retinitis pigmentosa (RP) is an inherited retinal disorder leading to gradual vision loss, with around 25% of autosomal dominant cases linked to mutations in the rhodopsin gene.
  • The study identifies a novel cause of autosomal dominant RP through a unique mono-allelic copy number variation (CNV) in the rhodopsin gene, showcasing advanced retinal degeneration in a 68-year-old patient with multiple copies of the gene.
  • Researchers also explored using a small molecule, Photoregulin3 (PR3), to manage disease progression, which showed promise in correcting mislocalization of the rhodopsin protein in patient-derived retinal organoids, indicating potential for personalized medicine approaches in treating RP.
View Article and Find Full Text PDF

Background: Systems capable of automating and enhancing the management of research and clinical data represent a significant contribution of information and communication technologies to health care. A recent advancement is the development of imaging biobanks, which are now enabling the collection and storage of diagnostic images, clinical reports, and demographic data to allow researchers identify associations between lifestyle and genetic factors and imaging-derived phenotypes.

Objective: The aim of this study was to design and evaluate the system performance of a network for an operating biobank of diagnostic images, the Bio Check Up Srl (BCU) Imaging Biobank, based on the Extensible Neuroimaging Archive Toolkit open-source platform.

View Article and Find Full Text PDF

A medical multimodal large language model for future pandemics.

NPJ Digit Med

December 2023

Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford, UK.

Deep neural networks have been integrated into the whole clinical decision procedure which can improve the efficiency of diagnosis and alleviate the heavy workload of physicians. Since most neural networks are supervised, their performance heavily depends on the volume and quality of available labels. However, few such labels exist for rare diseases (e.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!