Untargeted metabolomics profiling of gestational diabetes mellitus: insights into early diagnosis and metabolic pathway alterations.

Introduction: Gestational Diabetes Mellitus (GDM) is a metabolic disorder marked by Q10 hyperglycemia that can negatively affect both mothers and newborns. The increasing prevalence of GDM and the limitations associated with the standard diagnostic test highlight the urgent need for early screening strategies that promote timely interventions.

Methods: This study aims to investigate the metabolic profile associated with GDM through an untargeted metabolomic analysis using mass spectrometry (MS)- based omics.

Metabolomic profiling of saliva from cystic fibrosis patients.

The development of targeted therapies that correct the effect of mutations in patients with cystic fibrosis (CF) and the relevant heterogeneity of the clinical expression of the disease require biomarkers correlated to the severity of the disease useful for monitoring the therapeutic effects. We applied a targeted metabolomic approach by LC-MS/MS on saliva samples from 70 adult CF patients and 63 age/sex-matched controls to investigate alterations in metabolic pathways related to pancreatic insufficiency (PI), Pseudomonas aeruginosa (PA) colonization, CF liver disease (CFLD), and CF related diabetes (CFRD). Sixty salivary metabolites were differentially expressed, with 11 being less abundant and 49 more abundant in CF patients.

Proteopathic seed amplification assays in easily accessible specimens for human synucleinopathies, tauopathies and prionopathies: a Scoping Review.

A hallmark event in neurodegenerative diseases is represented by the misfolding, aggregation and accumulation of proteins, leading to cellular and network dysfunction preceding the development of clinical symptoms by years. Early diagnosis represents a crucial issue in the field of neuroscience as it offers the potential to utilize this therapeutic window in the future to manage disease-modifying therapy. Seed amplification assays, including Real-Time Quaking-Induced Conversion (RT-QuIC) and Protein Misfolding Cyclic Amplification (PMCA), have emerged in recent years as innovative techniques developed to detect minute amounts of amyloidogenic proteins.

COVIDomics: Metabolomic Views on COVID-19.

During the COVID-19 pandemic, omics-based methodologies were extensively used to study the pathological mechanisms of SARS-CoV-2 infection and replication in human cells at a large scale [...