MicroRNAs, a Promising Target for Breast Cancer Stem Cells
AbstractReactivation of the stem cell programme in breast cancer is significantly associated with persistent cancer progression and therapeutic failure. Breast cancer stem cells (BCSCs) are involved in the process of breast cancer initiation, metastasis and cancer relapse. Among the various important cues found in the formation and progression of BCSCs, microRNAs (miRNAs or miRs) play a pivotal role by regulating the expression of various tumour suppressor genes or oncogenes. Accordingly, there is evidence that miRNAs are associated with BCSC self-renewal, differentiation, invasion, metastasis and therapy resistance, and t...
Source: Molecular Diagnosis and Therapy - November 21, 2019 Category: Molecular Biology Source Type: research

Mutation Yield of a Custom 212-Gene Next-Generation Sequencing Panel for Solid Tumors: Clinical Experience of the First 260 Cases Tested Using the JAX ActionSeq ™ Assay
ConclusionsThis study demonstrates that of the genes with documented involvement in cancer, only a limited number are currently clinically significant from a therapeutic, diagnostic and/or prognostic perspective. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - November 20, 2019 Category: Molecular Biology Source Type: research

Clinical Outcomes of Different Generations of EGFR Tyrosine Kinase Inhibitors in Advanced Lung Adenosquamous Carcinoma
ConclusionsTargeted therapy showed remarkable efficacy in ASC patients harboring sensitiveEGFR mutations, comparable to adenocarcinoma. The application of the third-generation TKI provided an option to prolong survival. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - November 11, 2019 Category: Molecular Biology Source Type: research

Acknowledgement to Referees
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - November 10, 2019 Category: Molecular Biology Source Type: research

Leading RNA Interference Therapeutics Part 1: Silencing Hereditary Transthyretin Amyloidosis, with a Focus on Patisiran
AbstractIn 2018, patisiran was the first-ever RNA interference (RNAi)-based drug approved by the US Food and Drug Administration. Now pharmacology textbooks may include a new drug class that  results in the effect first described by Fire and Mello 2 decades ago: post-transcriptional gene silencing by a small-interfering RNA (siRNA). Patients with hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) present with mutations in the transthyretin (TTR) gene that lead to the formation of amyloid deposits in peripheral nerves and heart. The disease may also affect the eye and central nervous system. The formulatio...
Source: Molecular Diagnosis and Therapy - November 6, 2019 Category: Molecular Biology Source Type: research

FebriDx ® : A Rapid Diagnostic Test for Differentiating Bacterial and Viral Aetiologies in Acute Respiratory Infections
AbstractFebriDx® is a rapid, point-of-care diagnostic test that is designed to aid in the differentiation of bacterial and viral acute respiratory infections (ARIs), thus helping to guide decisions regarding the prescription of antibiotics in the outpatient setting. FebriDx carries a CE mark for use in the EU and is also approved in several other countries, including Canada, Saudi Arabia and Singapore. It is indicated for use in patients>  2 years old with symptoms consistent with a community-acquired ARI. The test involves the use of an immunoassay on a fingerstick blood sample to provide simultaneous, qualitative ...
Source: Molecular Diagnosis and Therapy - November 5, 2019 Category: Molecular Biology Source Type: research

The Role of Lipidomics in Autism Spectrum Disorder
AbstractAutism spectrum disorder (ASD) is a complex neurodevelopmental syndrome commonly diagnosed in early childhood; it is usually characterized by impairment in reciprocal communication and speech, repetitive behaviors, and social withdrawal with loss in communication skills. Its development may be affected by a variety of environmental and genetic factors. Trained physicians diagnose and evaluate the severity of ASD based on clinical evaluations of observed behaviors. As such, this approach is inevitably dependent on the expertise and subjective assessment of those administering the clinical evaluations. There is a nee...
Source: Molecular Diagnosis and Therapy - November 4, 2019 Category: Molecular Biology Source Type: research

Clinical Validation and Implementation of a Measurable Residual Disease Assay for NPM1 in Acute Myeloid Leukemia by Error-Corrected Next-Generation Sequencing
ConclusionPerformance and clinical utility of theNPM1 MRD assay are established via both validation experiments and analyses of live performance over 1.5  years of routine clinical service. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 30, 2019 Category: Molecular Biology Source Type: research

Comment on “Prognostic Significance of FOXC1 in Various Cancers: A Systematic Review and Meta-Analysis”
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 30, 2019 Category: Molecular Biology Source Type: research

Authors ’ Reply to Wang and Huang: “Prognostic Significance of FOXC1 in Various Cancers: A Systematic Review and Meta-analysis”
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 30, 2019 Category: Molecular Biology Source Type: research

Advantages of Single-Stranded DNA Over Double-Stranded DNA Library Preparation for Capturing Cell-Free Tumor DNA in Plasma
ConclusionsssDNA libraries preserve more diversity and capture more ctDNA than dsDNA libraries. The ssDNA library method is preferred when performing genomic analysis of ctDNA. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 24, 2019 Category: Molecular Biology Source Type: research

Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia
ConclusionOur work reveals a non-classical spastic paraplegia, intellectual disability, nystagmus, and obesity phenotype for aKIDINS220 mutation, which broadens both the clinical and genetic spectrum for ADHSP. Beyond underscoring the utility of using both MLPA and WES in studies of HSP, our work deepens the scientific understanding of phenotypes for ADHSP and defines new genetic variants to facilitate future diagnoses. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 18, 2019 Category: Molecular Biology Source Type: research

Current Evidence on Potential Uses of MicroRNA Biomarkers for Migraine: From Diagnosis to Treatment
AbstractMigraine is a disabling and recurrent neurological disorder characterized by headache attacks that are often accompanied by sensory and motor disturbances. The value and importance of reliable biomarkers in migraine have been long recognized and a diverse range of biomarkers from biological samples to electrophysiological patterns and brain imaging has been proposed. There is still no consensus on specific biomarker(s) for migraine. Ideally, not a single but a battery of biomarkers would provide a multidisciplinary way to understand and treat migraine better. Translational research has witnessed an escalating numbe...
Source: Molecular Diagnosis and Therapy - October 13, 2019 Category: Molecular Biology Source Type: research

The Long Non-Coding RNA Landscape of Atherosclerotic Plaques
AbstractCurrently, cardiovascular diseases continue to be the leading cause of death worldwide; therefore, atherosclerosis remains one of the most crucial public health problems. This chronic and complex disease is considered to be a result of aberrant lipid homeostasis and inflammation of the inner wall of arteries that leads to plaque development. In recent years, a specific class of non-coding RNAs that are characterised by transcript lengths longer than 200  nucleotides, called long non-coding RNAs (lncRNAs), has emerged. Moreover, a growing body of evidence indicates that deregulation of lncRNA expression may contrib...
Source: Molecular Diagnosis and Therapy - October 9, 2019 Category: Molecular Biology Source Type: research

Expression Profile of Markers for Targeted Therapy in Gastric Cancer Patients: HER-2, Microsatellite Instability and PD-L1
ConclusionsGC patients who exhibited markers that can serve as an indication for known targeted therapy represent 40.4% of cases. The IT group was associated with a better prognosis. No benefit with standard adjuvant treatment appears to be achieved in MSI/PD-L1+ GCs. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 7, 2019 Category: Molecular Biology Source Type: research