Current Approach to Successful Liberation from Renal Replacement Therapy in Critically Ill Patients with Severe Acute Kidney Injury: The Quest for Biomarkers Continues
AbstractRecovery of sufficient kidney function to liberate patients with severe acute kidney injury (AKI-D) from renal replacement therapy (RRT) is recognized as a vital patient-centred outcome. However, no clinical consensus guideline provides specific recommendations on when and how to stop RRT in anticipation of renal recovery from AKI-D. Currently, wide variations in clinical practice regarding liberation from RRT result in early re-start of RRT to treat uraemia after premature liberation or in the unnecessary prolonged exposure of unwell patients after late liberation. Observational studies, predominantly retrospectiv...
Source: Molecular Diagnosis and Therapy - October 24, 2020 Category: Molecular Biology Source Type: research
Meta-analysis of Transcriptomic Data Reveals Pathophysiological Modules Involved with Atrial Fibrillation
ConclusionOur approach based on transcriptome meta-analysis revealed a set of key genes that demonstrated consistent overall changes in expression patterns associated with AF despite data heterogeneity related, among others, to type of tissue. Further experimental investigation of our findings may shed light on the pathophysiology of the disease and contribute to the identification of new therapeutic targets. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 23, 2020 Category: Molecular Biology Source Type: research
Genetic Determinants of Childhood Obesity
AbstractObesity represents a major health burden to both developed and developing countries. Furthermore, the incidence of obesity is increasing in children. Obesity contributes substantially to mortality in the United States by increasing the risk for type 2 diabetes, cardiovascular-related diseases, and other comorbidities. Despite environmental changes over past decades, including increases in high-calorie foods and sedentary lifestyles, there is very clear evidence of a genetic predisposition to obesity risk. Childhood obesity cases can be categorized in one of two ways: syndromic or non-syndromic. Syndromic obesity in...
Source: Molecular Diagnosis and Therapy - September 30, 2020 Category: Molecular Biology Source Type: research
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders
AbstractThe impact of high-throughput sequencing in genetic neuromuscular disorders cannot be overstated. The ability to rapidly and affordably sequence multiple genes simultaneously has enabled a second golden age of Mendelian disease gene discovery, with flow-on impacts for rapid genetic diagnosis, evidence-based treatment, tailored therapy development, carrier-screening, and prevention of disease recurrence in families. However, there are likely many more neuromuscular disease genes and mechanisms to be discovered. Many patients and families remain without a molecular diagnosis following targeted panel sequencing, clini...
Source: Molecular Diagnosis and Therapy - September 29, 2020 Category: Molecular Biology Source Type: research
The Potential of Liquid Biopsy of the Brain Using Blood Extracellular Vesicles: The First Step Toward Effective Neuroprotection Against Neurodegenerative Diseases
AbstractEarly diagnosis and biomarker-based ante-mortem tests are essential in efforts against the development of neurodegenerative diseases and can be considered primary neuroprotective measures. Blood is the ideal biofluid for a routine ante-mortem screening test. However, biomarker discovery in the blood is particularly difficult because of interference from factors both intrinsic and extrinsic to blood with the detection of hallmark neurodegenerative biomarkers, such as the pathological prion protein, amyloid- β, and others. Blood extracellular vesicles (EVs), such as exosomes, are cell-derived vesicles released into ...
Source: Molecular Diagnosis and Therapy - September 24, 2020 Category: Molecular Biology Source Type: research
Discrepancies in Genetic Testing Procedures of BRCA1/2 Mutations: A National Survey Across China
This study was designed to assess the discrepancies in genetic testing procedures ofBRCA1/2 mutations across China. An online survey was developed for depicting theBRCA1/2 testing landscape in China. Our results show that there were several variations among the laboratories in technologies adopted, large genomic rearrangement detection, probe design, quality control, variant of uncertain significance interpretation, and disposition of variants in public databases. The discrepancies observed in our study would affect the authenticity of results, thus necessitating the formulation of proper national and international guideli...
Source: Molecular Diagnosis and Therapy - September 23, 2020 Category: Molecular Biology Source Type: research
Characterization of Long Non-coding RNA Signatures of Intracranial Aneurysm in Circulating Whole Blood
ConclusionsDifferential expression in whole blood lncRNAs is detectable in patients harboring aneurysms, and reflects expression/signaling regulation, and ubiquitin and p53 pathways. Following validation in larger cohorts, these lncRNAs may be potential diagnostic targets for aneurysm detection by blood testing. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - September 15, 2020 Category: Molecular Biology Source Type: research
Genetic Modification of Mesenchymal Stem Cells for Neurological Disease Therapy: What Effects Does it Have on Phenotype/Cell Behavior, Determining Their Effectiveness?
AbstractMesenchymal stem cells are a promising tool in regenerative medicine, and their functions can be enhanced through genetic modification. Recent advances in genetic engineering provide several methods that enable gene delivery to mesenchymal stem cells. However, it remains to be decided whether genetic modification of mesenchymal stem cells by vectors carrying reporter or therapeutic genes leads to adverse effects on morphology, phenotypic profiles, and viability of transplanted cells. In this regard, we focus on the description of genetic modification methods of mesenchymal stem cells, their effectiveness, and the i...
Source: Molecular Diagnosis and Therapy - September 13, 2020 Category: Molecular Biology Source Type: research
The Path Forward for COVID-19 Diagnostics
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - September 13, 2020 Category: Molecular Biology Source Type: research
More than a Genetic Code: Epigenetics of Lung Fibrosis
AbstractAt the end of the last century, genetic studies reported that genetic information is not transmitted solely by DNA, but is also transmitted by other mechanisms, named as epigenetics. The well-described epigenetic mechanisms include DNA methylation, biochemical modifications of histones, and microRNAs. The role of altered epigenetics in the biology of various fibrotic diseases is well-established, and recent advances demonstrate its importance in the pathogenesis of pulmonary fibrosis —predominantly referring to idiopathic pulmonary fibrosis, the most lethal of the interstitial lung diseases. The deficiency in eff...
Source: Molecular Diagnosis and Therapy - September 13, 2020 Category: Molecular Biology Source Type: research
Comparison of Droplet Digital PCR versus qPCR Measurements on the International Scale for the Molecular Monitoring of Chronic Myeloid Leukemia Patients
ConclusionsIn conclusion, our results show very good quantitative and qualitative correlations betweenBCR-ABL1/ABL1 p210 results obtained by qPCR and by ddPCR and confirm previous scarce data regarding the lack of an increase in sensitivity of ddPCR over qPCR in this setting. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 31, 2020 Category: Molecular Biology Source Type: research
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes
ConclusionsSingle-molecule molecular inversion probes are experimentally simple, cost effective and scalable, accurately detecting clinically relevant somatic variants in challenging brain formalin-fixed, paraffin-embedded tissues. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 8, 2020 Category: Molecular Biology Source Type: research
Preliminary Analysis of B- and T-Cell Responses to SARS-CoV-2
ConclusionsLFIA-IgM/IgG and MCLIA-IgM/IgG assays can indicate SARS-CoV-2 infection, which elicits an antibody response. Lymphocytopenia occurs in patients with COVID-19, which possibly weakens the T-cell response. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 23, 2020 Category: Molecular Biology Source Type: research
Assessment of Synergistic Contribution of Histone Deacetylases in Prognosis and Therapeutic Management of Sarcoma
AbstractSarcomas are a rare group of neoplasms with a mesenchymal origin that are mainly characterized by the abnormal growth of connective tissue cells. The standard treatment for local control of sarcomas includes surgery and radiation, while for adjuvant and palliative therapy, chemotherapy has been strongly recommended. Despite the availability of multimodal therapies, the survival rate for patients with sarcoma is still not satisfactory. In recent decades, there has been a considerable effort to overcome chemotherapy resistance in sarcoma cells. This has led to the investigation of more cellular compounds implicated i...
Source: Molecular Diagnosis and Therapy - July 20, 2020 Category: Molecular Biology Source Type: research
Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms
ConclusionOMA revealed excellent analytical and potential clinical performance and could be a good replacement for conventional molecular tests. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 15, 2020 Category: Molecular Biology Source Type: research
