AI Article Synopsis
- * This study analyzed plasma from 474 individuals and fibroblasts from 67 subjects, including healthy controls and patients with 65 different monogenic diseases, alongside an undiagnosed group.
- * A new web application has been developed for users to easily explore and analyze the metabolomics database, allowing for in-depth reviews of metabolic changes related to IEMs and comparisons of different biological samples.
Article Abstract
Metabolomic profiling is instrumental in understanding the systemic and cellular impact of inborn errors of metabolism (IEMs), monogenic disorders caused by pathogenic genomic variants in genes involved in metabolism. This study encompasses untargeted metabolomics analysis of plasma from 474 individuals and fibroblasts from 67 subjects, incorporating healthy controls, patients with 65 different monogenic diseases, and numerous undiagnosed cases. We introduce a web application designed for the in-depth exploration of this extensive metabolomics database. The application offers a user-friendly interface for data review, download, and detailed analysis of metabolic deviations linked to IEMs at the level of individual patients or groups of patients with the same diagnosis. It also provides interactive tools for investigating metabolic relationships and offers comparative analyses of plasma and fibroblast profiles. This tool emphasizes the metabolic interplay within and across biological matrices, enriching our understanding of metabolic regulation in health and disease. As a resource, the application provides broad utility in research, offering novel insights into metabolic pathways and their alterations in various disorders.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760037 | PMC |
| http://dx.doi.org/10.1101/2023.12.11.571124 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Current research trends and hotspots of boron neutron capture therapy: a bibliometric and visualization analysis.
Front Oncol
December 2024
Department of Radiation Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital & Shenzhen Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, China.
Purpose: This study aimed to describe the trends, current hotspots, and future directions in boron neutron capture therapy (BNCT) through a bibliometric analysis.
Methods: Articles related to BNCT published before 2023-12-31 were retrieved from the Web of Science Core Collection database. VOSviewer, R, and CiteSpace were used for bibliometric analysis and visualization.
Bibliometric analysis and visualization of the research on the relationship between RNA methylation and immune cell infiltration in tumors.
Front Immunol
December 2024
Qilu Hospital, Cheeloo College of Medicine, Shandong University, Qingdao, Shandong, China.
Background: This research endeavors to delve into the research hotspots and trends concerning RNA methylation and tumor immune cells through the application of bibliometric analysis and visualization techniques.
Methods: A comprehensive search in WoSCC (2014-2023) for RNA methylation and tumor immune cell articles/reviews was conducted. Bibliometric analysis and visualization employed CiteSpace, Bibliometric, and VOSviewer tools.
A Systematic Review of Current Practices, Challenges, and Future Directions for the Use of Robotic Surgery in Otolaryngology in Greece.
Cureus
November 2024
Hellenic Minimally Invasive and Robotic Surgery (MIRS) Study Group, Medical School, National and Kapodistrian University of Athens, Athens, GRC.
Robotic surgery is increasingly used in otolaryngology (ENT), particularly for complex head and neck procedures. It offers various advantages, including limited postoperative pain, excellent aesthetic results, better visualization in the surgical field, enhanced dexterity due to movement adjustment by the robotic system, and minimal complications and hospital stay. However, robotic systems' higher cost and limited availability are a burden for clinical applications.
View Article and Find Full Text PDFPrognostic models for prediction of perioperative allogeneic red blood cell transfusion in adult cardiac surgery: A systematic review and meta-analysis.
Transfusion
December 2024
Department of Cardiovascular Sciences, Unit Anesthesiology and Algology, Biomedical Sciences Group, University of Leuven (KU Leuven), Leuven, Belgium.
Objectives: Identifying cardiac surgical patients at risk of requiring red blood cell (RBC) transfusion is crucial for optimizing their outcome. We critically appraised prognostic models preoperatively predicting perioperative exposure to RBC transfusion in adult cardiac surgery and summarized model performance.
Methods: Design: Systematic review and meta-analysis.
Efficacy and safety of Chinese tonic medicines for treating sepsis or septic shock: a protocol for a systematic review and Bayesian network meta-analysis of randomized controlled trials.
Syst Rev
December 2024
West China Center of Excellence for Pancreatitis, Institute of Integrated Traditional Chinese and Western Medicine, West China Hospital, Sichuan University, Chengdu, 610041, China.
Background: Sepsis is a life-threatening organ dysfunction with high morbidity and mortality. Various studies have demonstrated the effectiveness of Chinese tonic medicines (CTMs) in treating sepsis or septic shock. However, trials directly comparing the efficacy and safety of different CTMs for sepsis or septic shock are still lacking.
View Article and Find Full Text PDFWant 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!