Integrated Multi-omics Approaches for Studying Rare Genetic Diseases.

Despite the transformation of genomics and genetics, DNA- and RNA-based information provides only a partial view of disease etiology and pathogenesis. This has increased awareness that genetic and gene expression data must be integrated with downstream product activity and cellular metabolite regulation to understand disease processes fully.By simultaneously analyzing the genome, transcriptome, proteome, and metabolome, crucial molecular pathways and novel biomarkers associated with various genetic diseases have been identified using multi-omics approaches.

Untargeted LC-MS/MS- based metabolomics profiling of colorectal cancer cell lines reveals potential hypoxia-associated biomarkers.

Colorectal cancer (CRC), a common cancer of the large intestine, is influenced by metabolic reprogramming due to hypoxia. Novel biomarkers may be identified through metabolomics. While many CRC studies have reported metabolomic profiling, the metabolic profile of CRC in the context of oxygen content has yet to be elucidated.

Multiple Reaction Monitoring-Mass Spectrometric Immunoassay Analysis of Parathyroid Hormone Fragments with Vitamin D Deficiency in Patients with Diabetes Mellitus.

Current immunoassay techniques for analyzing clinically relevant parathyroid hormone (PTH) circulating fragments cannot distinguish microheterogeneity among structurally similar molecular species. This hinders the identification of molecular species and the capture of target analyte information. Since structural modifications are important in disease pathways, mass spectrometry can detect, identify, and quantify heterogeneous ligands captured by antibodies.

Metabolomics Panel Associated with Cystic Fibrosis-Related Diabetes toward Biomarker Discovery.

The most prevalent comorbidity among cystic fibrosis (CF) patients is cystic fibrosis-related diabetes (CFRD). CFRD has been linked to one of the worse clinical outcomes and a higher mortality. Improved clinical results have been related to earlier diagnosis and treatment of CFRD.

NMR-based metabolomics identification of potential serum biomarkers of disease progression in patients with multiple sclerosis.

Multiple sclerosis (MS) is a chronic and progressive neurological disorder, characterized by neuroinflammation and demyelination within the central nervous system (CNS). The etiology and the pathogenesis of MS are still unknown. Till now, no satisfactory treatments, diagnostic and prognostic biomarkers are available for MS.

Diagnosing Parkinson's disease and monitoring its progression: Biomarkers from combined GC-TOF MS and LC-MS/MS untargeted metabolomics.

Parkinson's disease (PD) is a prevalent neurodegenerative disorder with a poorly understood etiology. An accurate diagnosis of idiopathic PD remains challenging as misdiagnosis is common in routine clinical practice. Moreover, current therapeutics focus on symptomatic management rather than curing or slowing down disease progression.

Label-free quantitative proteomics analysis for type 2 diabetes mellitus early diagnostic marker discovery using data-independent acquisition mass spectrometry (DIA-MS).

Type-2 diabetes mellitus (T2DM) therapy requires early diagnosis and complication avoidance. Unfortunately, current diagnostic markers do not meet these needs. Data-independent acquisition mass spectrometry (DIA-MS) offers a solution for clinical diagnosis, providing reliable and precise sample quantification.

Recent advances in proteomic-based diagnostics of cystic fibrosis.

Introduction: Cystic fibrosis (CF) is a genetic disease characterized by thick and sticky mucus accumulation, which may harm numerous internal organs. Various variables such as gene modifiers, environmental factors, age of diagnosis, and CF transmembrane conductance regulator (CFTR) gene mutations influence phenotypic disease diversity. Biomarkers that are based on genomic information may not accurately represent the underlying mechanism of the disease as well as its lethal complications.

Exploring the Effects of Vitamin D and Vitamin A Levels on the Response to COVID-19 Vaccine.

COVID-19 vaccines were developed at an unprecedented speed in history. The factors affecting the response to COVID-19 vaccines are not clear. Herein, the effects of vitamin D and vitamin A (retinol) levels on the response to the BNT162b2 vaccine were explored.

Serum-Based Lipid Panels for Diagnosis of Idiopathic Parkinson's Disease.

Parkinson's disease (PD) is a highly prevalent neurodegenerative movement disorder with an unclear etiology and a lack of definite diagnostic tests and effective treatments. About 95% of PD cases are idiopathic, in which none of the well-known genes underlying familial parkinsonism are mutated. We used untargeted liquid chromatography-mass spectrometry (LC-MS/MS) to profile the serum lipidome of 50 patients with different stages of idiopathic PD (early, mid, or advanced) and 45 age-matched controls.

Quantitative analysis of soluble costimulatory molecules as potential diagnostic biomarkers for rheumatoid arthritis using LC-MS/MS in MRM mode.

Background And Aims: Rheumatoid arthritis (RA) is a chronic autoimmune disease. RA-induced immunological responses are coordinated by T-cell stimulation. The costimulatory signal CD28-B7 is essential for T-cell activation by interacting CD28 with CD80 and CD86 costimulatory proteins.

Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots.

Galactosemia (GAL) is a genetic disorder that results in disturbances in galactose metabolism and can lead to life-threatening complications. However, the underlying pathophysiology of long-term complications in GAL remains poorly understood. In this study, a metabolomics approach using ultra-performance liquid chromatography coupled with high-resolution mass spectrometry was used to investigate metabolomic changes in dried blood spots of 15 patients with GAL and 39 healthy individuals.

Metabolomics profiling distinctively identified end-stage renal disease patients from chronic kidney disease patients.

Chronic kidney disease (CKD) is a serious public health problem characterized by progressive kidney function loss leading to end-stage renal disease (ESRD) that demands dialysis or kidney transplantation. Early detection can prevent or delay progression to ESRD. The study aimed to gain new insights into the perturbed biochemical reactions and to identify novel distinct biomarkers between ESRD and CKD.

Metabolomics Profiling of Nephrotic Syndrome towards Biomarker Discovery.

Nephrotic syndrome (NS) is a kidney illness characterized by excessive proteinuria, hypoalbuminemia, edema, and hyperlipidemia, which may lead to kidney failure and necessitate renal transplantation. End-stage renal disease, cardiovascular issues, and mortality are much more common in those with NS. Therefore, the present study aimed to identify potential new biomarkers associated with the pathogenesis and diagnosis of NS.

Sources of SARS-CoV-2 transmission in Jordan: Self-reported approach.

Background: Understanding the dynamics of virus transmission is essential for controlling the COVID-19 pandemic. Demographic factors could influence transmission of the virus in different communities. Herein, the sources of COVID-19 infection in Jordan were explored.

Effect of natural products use prior to infection with COVID-19 on disease severity and hospitalization: A self-reported cross-sectional survey study.

Managing coronavirus disease 2019 (COVID-19) using available resources is essential to reduce the health burden of disease. The severity of COVID-19 is affected by nutritional status. In this study the effect of natural product use prior to infection with COVID-19 on disease severity and hospitalization was explored.

Dystrophin Protein Quantification as a Duchenne Muscular Dystrophy Diagnostic Biomarker in Dried Blood Spots Using Multiple Reaction Monitoring Tandem Mass Spectrometry: A Preliminary Study.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder characterized by progressive muscle loss, leading to difficulties in movement. Mutations in the DMD gene that code for the protein dystrophin are responsible for the development of DMD disorder, where the synthesis of this protein is completely halted. Therefore, circulating dystrophin protein could be a promising biomarker of DMD disease.

Predictors of COVID-19 severity and hospitalization: A survey-based study from Jordan.

Objectives: To explore the possible predictors of severe illness and hospitalization due to COVID-19 among Jordanians.

Method: The study was cross-sectional, survey-based and was conducted from March to July of 2021. Individuals who had recovered from COVID-19 (n = 2148) were recruited in the study.

The impact of vitamin and mineral supplements usage prior to COVID-19 infection on disease severity and hospitalization.

The COVID-19 pandemic has caused a global public health emergency. Nutritional status is suggested to be related to the severity of COVID-19 infection. Herein, we aimed to explore the impact of using vitamin and mineral supplements prior to COVID-19 infection on disease severity and hospitalization.