Correction to: Analytical and Clinical Performance of Droplet Digital PCR in the Detection and Quantification of SARS-CoV-2
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - September 18, 2021 Category: Molecular Biology Source Type: research

Preimplantation Genetic Testing for Monogenic Conditions: Is Cell-Free DNA Testing the Next Step?
AbstractGenetic assessment of an embryo via preimplantation genetic testing (PGT) represents an important reproductive option for couples wanting to try and improve success rates from in vitro fertilisation (IVF) cycles, as well as reduce their risk of having a child born with a genetic condition. Currently, biopsy of the developing embryo prior to transfer allows genetic assessment of an embryo for either chromosome copy number (aneuploidy [PGT-A] or segmental rearrangement [PGT-SR]) or to avoid the transmission of a single gene condition (monogenic conditions [PGT-M]). However, this technology is invasive and commands co...
Source: Molecular Diagnosis and Therapy - September 8, 2021 Category: Molecular Biology Source Type: research

Biomarkers for Nonexudative Age-Related Macular Degeneration and Relevance for Clinical Trials: A Systematic Review
ConclusionThis systematic review supports the use of structural and functional biomarkers in early AMD and intermediate AMD, which are more reproducible and less invasive than the other classes of biomarkers described. The use of deep learning and combinational algorithms will gain increasing importance in future clinical trials of nonexudative AMD. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 25, 2021 Category: Molecular Biology Source Type: research

Hepatic Clearance of Cell-Free DNA: Possible Impact on Early Metastasis Diagnosis
AbstractCirculating DNA in the bloodstream has been studied since the 1940s, leading to its identification as a possible early marker for the presence of a primary tumor. Recently, it has been more successfully employed in liquid biopsies to determine the early presence of a metastatic tumor arising after chemotherapy, radiotherapy, and surgery. The appearance of such circulating tumor DNA permits the identification of the metastatic tumor before it is detected by either palpation or radiological analysis. Nevertheless, the liquid biopsy may possibly be affected by the removal of circulating tumor DNA via the kidneys and s...
Source: Molecular Diagnosis and Therapy - August 24, 2021 Category: Molecular Biology Source Type: research

Diagnostic Accuracy of Two Molecular Tools for Diagnosis of Congenital Chagas Disease
ConclusionsThe qPCR agreed with the current diagnostic algorithm, and was a reliable and sensitive tool to detect congenital Chagas disease earlier, providing an appropriate and timely identification of infected infants requiring treatment. LAMP was able to detect congenital Chagas disease in infected infants by naked-eye visualization in accordance with a microscopic examination. The advantages of molecular diagnostic tools should be taken into account by the health system to improve congenital Chagas disease diagnosis. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 23, 2021 Category: Molecular Biology Source Type: research

Elivaldogene Autotemcel: First Approval
This article summarizes the milestones in the development of elivaldogene autotemcel leading to this first approval. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 23, 2021 Category: Molecular Biology Source Type: research

RNA Sequencing Data from Human Intracranial Aneurysm Tissue Reveals a Complex Inflammatory Environment Associated with Rupture
ConclusionsWe found unruptured IAs relate more to remodeling processes, while ruptured IAs reflect more inflammatory and immune responses. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 17, 2021 Category: Molecular Biology Source Type: research

Cardiovascular Pharmacogenomics: An Update on Clinical Studies of Antithrombotic Drugs in Brazilian Patients
AbstractAnticoagulant and antiplatelet drugs effectively prevent thrombotic events in patients with cardiovascular diseases, ischemic stroke, peripheral vascular diseases, and other thromboembolic diseases. However, genetic and non-genetic factors affect the response to antithrombotic therapy and can increase the risk of adverse events. This narrative review discusses pharmacogenomic studies on antithrombotic drugs commonly prescribed in Brazil. Multiple Brazilian studies assessed the impact of pharmacokinetic (PK) and pharmacodynamic (PD) gene variants on warfarin response. The reduced function allelesCYP2C9*2 andCYP2C9*3...
Source: Molecular Diagnosis and Therapy - August 6, 2021 Category: Molecular Biology Source Type: research

Follicular T Helper and Breg Cell Balance in Severe Allergic Asthma Before and After Omalizumab Therapy
ConclusionsOur data explored the changes in Tfh cells, Tregs and Bregs in severe asthma. The restoration of immunological imbalance in SAA patients after omalizumab is certainly intriguing and represents a glimpse into the comprehension of immunological effects of treatment. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 3, 2021 Category: Molecular Biology Source Type: research

Milestones of Precision Medicine: An Innovative, Multidisciplinary Overview
AbstractAlthough the concept of precision medicine, in which healthcare is tailored to the molecular and clinical characteristics of each individual, is not new, its implementation in clinical practice has been heterogenous. In some medical specialties, precision medicine has gone from being just a promise to a reality that achieves better patient outcomes. This is a fact if we consider, for example, the great advances made in the genetic diagnosis and subsequent treatment of countless hereditary diseases, such as cystic fibrosis, which have improved the life expectancy of many of the affected children. In the field of onc...
Source: Molecular Diagnosis and Therapy - July 30, 2021 Category: Molecular Biology Source Type: research

Development and Evaluation of a Droplet Digital PCR Assay for 8p23 β-Defensin Cluster Copy Number Determination
ConclusionsddPCR is an accurate, reproducible, easy-to-use, cheap, high-throughput method for DEFB CN determination. ddPCR could be applied to DEFB CN quantification in large-scale case –control studies. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 29, 2021 Category: Molecular Biology Source Type: research

Bi-specific and Tri-specific NK Cell Engagers: The New Avenue of Targeted NK Cell Immunotherapy
AbstractNatural killer (NK) cell-mediated cancer immunotherapy has grown significantly over the past two decades. More recently, multi-specific engagers have been developed as cancer therapeutics to effectively arm endogenous NK cells to more potently induce specific cytolytic responses against tumor targets. This review explores the bi- and tri-specific NK/tumor engagers that are emerging as a new generation of immunotherapeutics. These molecules vary in configuration, but they typically have small molecular weights and domains that engage specific tumor antigens and NK cell-activating receptors such as CD16, NKp30, NKp46...
Source: Molecular Diagnosis and Therapy - July 29, 2021 Category: Molecular Biology Source Type: research

Analytical and Clinical Performance of Droplet Digital PCR in the Detection and Quantification of SARS-CoV-2
ConclusionsDroplet digital polymerase chain reaction demonstrated excellent sensitivity for SARS-Cov-2 detection and consistently agreed with the results from conventional RT-qPCR. Furthermore, ddPCR provided quantitative data that can be used to monitor changes in the viral load of patients with COVID-19. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 28, 2021 Category: Molecular Biology Source Type: research

Piflufolastat F 18: Diagnostic First Approval
This article summarizes the milestones in the development of piflufolastat F 18 leading to this approval as a radioactive diagnostic agent in prostate cancer. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 22, 2021 Category: Molecular Biology Source Type: research

Metastasis Prevention: Focus on Metastatic Circulating Tumor Cells
AbstractMetastasis is the main cause of cancer death. Metastatic foci are derived from tumor cells that detach from the primary tumor and then enter the circulation. Circulating tumor cells (CTCs) are generally associated with a high probability of distant metastasis and a negative prognosis. Most CTCs die in the bloodstream, and only a few cells form metastases. Such metastatic CTCs have a stem-like and hybrid epithelial-mesenchymal phenotype, can avoid immune surveillance, and show increased therapy resistance. Targeting metastatic CTCs and their progenitors in primary tumors and their descendants, particularly dissemina...
Source: Molecular Diagnosis and Therapy - July 21, 2021 Category: Molecular Biology Source Type: research