Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype
ConclusionsIn addition to 22q11.2 microdeletion, many other clinically significant submicroscopic variants are present in fetuses with AAA, especially in fetuses with other ultrasound malformations. Although CMA is always recommended in the presence of any malformation in many countries, our results suggest insufficient evidence to recommend CMA in fetuses with isolated AAA, except for isolated RAA. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - July 9, 2020 Category: Molecular Biology Source Type: research
Oncotype DX Breast Recurrence Score ® : A Review of its Use in Early-Stage Breast Cancer
AbstractOncotype DX Breast Recurrence Score® is a 21-gene prognostic and predictive assay indicated for use in patients with hormone receptor-positive, human epidermal growth factor receptor 2-negative, lymph node (LN)-negative or up to three LN-positive, early-stage breast cancer. The assay is used worldwide and is conducted at a CLIA-certified central laboratory in the USA. The 21-gene assay generates a Recurrence Score for each tumour sample, based on expression levels of 16 breast cancer-related genes, normalized to five reference genes. The Recurrence Score is a continuous variable that provides an individualized est...
Source: Molecular Diagnosis and Therapy - June 30, 2020 Category: Molecular Biology Source Type: research
Soluble Urokinase Plasminogen Activator Receptor: A Biomarker for Predicting Complications and Critical Care Admission of COVID-19 Patients
AbstractThe novel coronavirus infection has spread worldwide, causing a wide spectrum of clinical manifestations. Most patients develop moderate clinical illness, but a substantial number will experience severe pneumonia, which may rapidly progress to acute respiratory distress syndrome and multiple organ failure. In this population, soluble urokinase plasminogen activator receptor (suPAR) could serve as a quick triage test and independent marker of clinical severity, hospital and intensive care unit admission, complications, and mortality. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 30, 2020 Category: Molecular Biology Source Type: research
Importance of Identifying Novel Biomarkers of Microvascular Damage in Type 1 Diabetes
AbstractMicrovascular complications of type 1 diabetes, which primarily include diabetic kidney disease, retinopathy, and neuropathy, are characterized by damage to the microvasculature of the kidney, retina, and neurons. The pathogenesis of these complications is multifactorial, and several pathways are implicated. These complications are often silent during their early stages, and once symptoms develop, there might be little to be done to cure them. Thus, there is a strong need for novel biomarkers to identify individuals at risk of microvascular complications at an early stage and guide the implementation of new therape...
Source: Molecular Diagnosis and Therapy - June 30, 2020 Category: Molecular Biology Source Type: research
A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance
ConclusionOur findings improve the understanding ofNR3C1 mutational spectrum in patients affected by glucocorticoid resistance syndrome and contribute to precise diagnosis and genetic counseling. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 29, 2020 Category: Molecular Biology Source Type: research
Correction to: Use of an Integrated Pan-Cancer Oncology Enrichment Next-Generation Sequencing Assay to Measure Tumour Mutational Burden and Detect Clinically Actionable Variants
This article was originally published under
a [CC BY NC 4.0] license. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 21, 2020 Category: Molecular Biology Source Type: research
Epi proColon ® for Colorectal Cancer Screening: A Profile of Its Use in the USA
AbstractEpi proColon® is a blood-based colorectal cancer (CRC) screening test that presents a convenient, non-invasive option for CRC screening in average-risk adults aged ≥ 50 years who are otherwise non-compliant to guideline-recommended screening programs. The Epi proColon test involves the use of a real-time PCR assay to detect methylatedSept9 DNA (a biomarker for CRC) in plasma derived from a whole blood sample. Epi proColon generally performed well in prospective clinical trials, having non-inferior sensitivity for detecting CRC compared with a fecal immunochemical test (FIT). Microsimulation modeling suppor...
Source: Molecular Diagnosis and Therapy - June 17, 2020 Category: Molecular Biology Source Type: research
Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias
AbstractCongenital anemias are a wide spectrum of diseases including hypoproliferative anemia syndromes, dyserythropoietic anemias, sideroblastic anemias, red blood cell membrane and enzymatic defects, hemoglobinopathies, and thalassemia syndromes. The various congenital anemia syndromes may have similar clinical and laboratory presentations, making the diagnosis challenging. The traditional work-up, which includes a complete blood count, blood smears, bone marrow studies, flow cytometry, and the osmotic fragility test, does not always lead to the diagnosis. Specialized tests such as red blood cell enzyme activity and ekta...
Source: Molecular Diagnosis and Therapy - June 16, 2020 Category: Molecular Biology Source Type: research
Prognostic Value of Melanoma-Associated Antigen-A ( MAGE-A ) Gene Expression in Various Human Cancers: A Systematic Review and Meta-analysis of 7428 Patients and 44 Studies
ConclusionOverexpression ofMAGE-A subfamily members is linked to poor prognosis in multiple cancers. Therefore, it could serve as a potential prognostic marker of poor prognosis in cancers. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 15, 2020 Category: Molecular Biology Source Type: research
Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy
AbstractVoretigene neparvovec (Luxturna®), a recombinant adeno-associated virus vector-based gene therapy, delivers a functioning copy of the human retinal pigment epithelium-specific 65 kDa (RPE65) gene into retinal cells of patients with reduced or absent levels of RPE65 protein, providing the potential to restore the visual cycle. A single-dose subretinal injection of voretigene neparvovec administered in each eye is approved in several countries worldwide for the treatment of vision loss in adult and paediatric patients with confirmed biallelicRPE65 mutation-associated inherited retinal dystrophy (IRD) and with suff...
Source: Molecular Diagnosis and Therapy - June 12, 2020 Category: Molecular Biology Source Type: research
The Potential Role of Smartphone-Based Microfluidic Systems for Rapid Detection of COVID-19 Using Saliva Specimen
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 10, 2020 Category: Molecular Biology Source Type: research
Impact of Driver Mutations on the Evolution of Isolated Metachronous Lung Metastasis of Pancreatic Ductal adenocarcinoma
ConclusionsThe absence of mutations in theCDK2NA andSMAD4 tumor-suppressor genes in patients with isolated pulmonary metastases contrasts with the commonly observed high rates of driver gene mutations and suggests a link with overall survival. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 9, 2020 Category: Molecular Biology Source Type: research
Clonal Origin Evaluated by Trunk and Branching Drivers and Prevalence of Mutations in Multiple Lung Tumor Nodules
ConclusionWhile discordance of trunk drivers indicated MPLC in patients with synchronous or metachronous lung tumor nodules, discordance of branching drivers did not exclude IPM. Concordance of uncommon drivers supported IPM, whereas concordance of common drivers did not exclude MPLC. Additional recommendations from official organizations are needed to guide applications of molecular markers in defining clonality of multiple lung tumor nodules. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 4, 2020 Category: Molecular Biology Source Type: research
Prognostic Value of L-Type Amino Acid Transporter 1 (LAT1) in Various Cancers: A Meta-Analysis
ConclusionsElevated expression of LAT1 is associated with poor prognosis in human cancers and may serve as a potential prognostic marker and therapeutic target for patients with malignancies. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - May 13, 2020 Category: Molecular Biology Source Type: research
Performance Characteristics of a Real-Time Polymerase Chain Reaction Assay for the Detection of Epidermal Growth Factor Receptor ( EGFR ) Mutations in Plasma Samples of Non-Small Cell Lung Cancer (NSCLC) Patients
ConclusionsThecobas test is a sensitive, robust, and accurate assay that delivers reproducible results. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - May 12, 2020 Category: Molecular Biology Source Type: research
