Prognostic Value of L-Type Amino Acid Transporter 1 (LAT1) in Various Cancers: A Meta-Analysis
AbstractBackground and ObjectiveThe L-type amino acid transporter 1 (LAT1, SLC7A5) is overexpressed in various types of cancer and has been thought to assist cancer progression through its uptake of neutral amino acids. However, the prognostic role of LAT1 in human cancers remains uncharacterized. Therefore, we conducted this meta-analysis to determine the prognostic significance of LAT1 in various cancers.MethodsWe systematically searched the PubMed, Web of Science, EMBASE, Chinese National Knowledge Infrastructure, and WanFang databases to collect relevant cohort studies investigating the prognostic value of LAT1 express...
Source: Molecular Diagnosis and Therapy - May 14, 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 13, 2020 Category: Molecular Biology Source Type: research

Deciphering the Roles of IFITM1 in Tumors
AbstractInterferon (IFN)-induced transmembrane protein 1 (IFITM1), a member of the IFN-induced transmembrane protein family, is reported to be highly expressed in tumor tissues as well as cancer cell lines, and it is an independent prognostic biomarker for patients with certain tumor types, such as gallbladder carcinoma, esophageal adenocarcinoma, colorectal cancer, and gastric cancer. Moreover, overexpression of IFITM1 promotes tumor cell proliferation, invasion, metastasis, angiogenesis, and therapeutic resistance, including endocrine therapy, chemotherapy, and radiotherapy resistance. Due to these diverse functions of I...
Source: Molecular Diagnosis and Therapy - May 11, 2020 Category: Molecular Biology Source Type: research

Circulating Nucleic Acids in Maternal Plasma and Serum in Pregnancy Complications: Are They Really Useful in Clinical Practice? A Systematic Review
ConclusionDue to the heterogeneity of the populations enrolled, the scarcity of the studies that adjusted the CNAPS values for possible confounding factors, and the difficulty in interpreting the published data, no conclusion regarding the statistical robustness and clinical relevance of the data can be made at present. If assayed at the third trimester, the CNAPS have, however, shown better performance, and could be used in populations already at risk of developing complications as suggested by the presence of other clinical features. Other CNAPS, including miRNA, are under investigation, especially for the screening of g...
Source: Molecular Diagnosis and Therapy - May 4, 2020 Category: Molecular Biology Source Type: research

Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020
AbstractEpidermolysis bullosa (EB) is a group of rare genetic disorders for which significant progress has been achieved in the development of molecular therapies in the last few decades. Such therapies require knowledge of mutant genes and specific mutations, some of them being allele specific. A relatively large number of clinical trials are ongoing and ascertaining the clinical efficacy of gene, protein or cell therapies or of repurposed drugs, mainly in recessive dystrophic EB. It is expected that some new drugs may emerge in the near future and that combinations of different approaches may result in improved treatment...
Source: Molecular Diagnosis and Therapy - April 23, 2020 Category: Molecular Biology Source Type: research

Circulating MicroRNAs as Potential Molecular Biomarkers for Intracranial Aneurysmal Rupture
ConclusionsOur study determined the plasma miRNA signature of ruptured IAs and identified eight candidate miRNAs that could be useful biomarkers for this condition. We hypothesize that these differentially expressed miRNAs may play pivotal roles in IA pathology. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 22, 2020 Category: Molecular Biology Source Type: research

Improving Molecular Therapy in the Kidney
AbstractMutations in approximately 80 genes have been implicated as the cause of various genetic kidney diseases. However, gene delivery to kidney cells from the blood is inefficient because of the natural filtering functions of the glomerulus, and research into and development of gene therapy directed toward kidney disease has lagged behind as compared with hepatic, neuromuscular, and ocular gene therapy. This lack of progress is in spite of numerous genetic mouse models of human disease available to the research community and many vectors in existence that can theoretically deliver genes to kidney cells with high efficie...
Source: Molecular Diagnosis and Therapy - April 22, 2020 Category: Molecular Biology Source Type: research

Use of an Integrated Pan-Cancer Oncology Enrichment Next-Generation Sequencing Assay to Measure Tumour Mutational Burden and Detect Clinically Actionable Variants
ConclusionsThe TSO500 assay accurately measures TMB, microsatellite instability, SNVs, indels, copy-number/structural variation and gene fusions when compared to WGS and orthogonal technologies. Coupled with a clinical annotation pipeline, this provides a powerful methodology for identification of clinically actionable variants. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 18, 2020 Category: Molecular Biology Source Type: research

Exploiting Circulating MicroRNAs as Biomarkers in Psychiatric Disorders
AbstractNon-invasive peripheral biomarkers play a significant role in both disease diagnosis and progression. In the past few years, microRNA (miRNA) expression changes in circulating peripheral tissues have been found to be correlative with changes in neuronal tissues from patients with neuropsychiatric disorders. This is a notable quality of a biomolecule to be considered as a biomarker for both prognosis and diagnosis of disease. miRNAs, members of the small non-coding RNA family, have recently gained significant attention due to their ability to epigenetically influence almost every aspect of brain functioning. Empiric...
Source: Molecular Diagnosis and Therapy - April 17, 2020 Category: Molecular Biology Source Type: research

Deciphering the DNA Methylome of Polycystic Ovary Syndrome
AbstractPolycystic ovary syndrome (PCOS) is a hormonal disorder common among women of reproductive age. PCOS is characterized by ovarian dysfunction and metabolic abnormalities with widely varying clinical manifestations brought about by intricate mechanisms of interplay between the genome and the environment. The popularity of epigenome-wide association studies (EWASs) is helping to facilitate the discovery of environment-mediated molecular modification in PCOS from disease etiology to epigenetic marker discovery. Current epigenetic studies have provided convincing observational evidence linking epigenetic regulation with...
Source: Molecular Diagnosis and Therapy - April 15, 2020 Category: Molecular Biology Source Type: research

Development of a Rapid and Sensitive IDH1/2 Mutation Detection Method for Glial Tumors and a Comparative Mutation Analysis of 236 Glial Tumor Samples
ConclusionSanger sequencing and IHC-based methods have shortcomings when detecting mutations in glial tumors so can missIDH1/2 mutations in glial tumors when used alone without proper modifications. 3m-ARMS-based mutation detection is fast and simple with potential for use as a diagnostic test for the majority of hot spot mutations inIDH1/2 genes. It can detectIDH1/2 mutations within an hour so can be adapted for intraoperative diagnosis. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 9, 2020 Category: Molecular Biology Source Type: research

Use of DAMPs and SAMPs as Therapeutic Targets or Therapeutics: A Note of Caution
AbstractThis opinion article discusses the increasing attention paid to the  role of activating damage-associated molecular patterns (DAMPs) in initiation of inflammatory diseases and suppressing/inhibiting DAMPs (SAMPs) in resolution of inflammatory diseases and, consequently, to the future roles of these novel biomarkers as therapeutic targets and therapeutics. Since con trolled production of DAMPs and SAMPs is needed to achieve full homeostatic restoration and repair from tissue injury, only their pathological, not their homeostatic, concentrations should be therapeutically tackled. Therefore, distinct caveats are ...
Source: Molecular Diagnosis and Therapy - April 4, 2020 Category: Molecular Biology Source Type: research

Immunoscore ® : A Diagnostic Assay for Clinical Management of Colon Cancer
AbstractImmunoscore® is an in vitro diagnostic assay that is designed to predict the risk of relapse in patients with early-stage colon cancer, thus helping to guide treatment strategies. Immunoscore has CE-IVD status in the EU, is CLIA certified in the USA, and is commercially available in many other countries worldwide. It is designed to be used in conjunction with TNM staging. Immunoscore uses digital images of tumour samples and advanced software to quantify the densities of CD3+ and CD8+ lymphocytes in defined regions of the tumour (i.e. core tumour and the invasive margin). A risk score is calculated, with a lowe...
Source: Molecular Diagnosis and Therapy - March 30, 2020 Category: Molecular Biology Source Type: research

Reduced Efficacy of Biological Drugs in Psoriatic Patients with HLA-A Bw4-80I KIR Ligands
ConclusionWe suggest that the HLA-A Bw4-80I epitope could be a marker of reduced responsiveness to biologics. The possible reason for this is an increase of tumour necrosis factor (TNF)- α and the silencing of NK cells through the predominant interaction with the KIR3DL/S pair. HLA-KIR affinities might lead to a more efficient way to prescribe biologics. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 18, 2020 Category: Molecular Biology Source Type: research

Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns
ConclusionsMini-sequencing for the simultaneous detection of 25CFTR gene variants improves the screening of Brazilian newborns and decreases the number of inconclusive cases. This method uses minimal hands-on time and is suited for rapid screening, which reduces sample processing costs. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 17, 2020 Category: Molecular Biology Source Type: research

Intrathecal IgM as a Prognostic Marker in Multiple Sclerosis
AbstractOne of the great challenges related to multiple sclerosis (MS) research is the identification of markers of prognosis and treatment response. In the last couple of decades, an association between intrathecally produced immunoglobulin M (IgM) and a more severe course of the disease has been suggested. Therefore, the objective of this literature review was to gather and review evidence from studies on intrathecally produced IgM as a prognostic marker of clinically isolated syndrome (CIS) converting to clinically definite MS (CDMS), the prognosis of MS and treatment response in patients with MS. This was accomplished ...
Source: Molecular Diagnosis and Therapy - March 11, 2020 Category: Molecular Biology Source Type: research

Contribution of Histone Deacetylases in Prognosis and Therapeutic Management of Cholangiocarcinoma
AbstractCholangiocarcinoma (CCA), a malignant tumor that occurs in the epithelium of the biliary tract, has a very poor prognosis because affected patients are frequently diagnosed at an advanced stage and recurrence after resection is common. Over the last two decades, our understanding of the molecular biology of this malignancy has expanded, and various studies have explored targeted therapy for CCA in order to improve patient survival. The histone acetylation/deacetylation equilibrium is affected in carcinogenesis, leading to altered chromatin structure and therefore changes in gene expression. Understanding the molecu...
Source: Molecular Diagnosis and Therapy - March 3, 2020 Category: Molecular Biology Source Type: research

Pretreatment Tumor DNA Sequencing of KIT and PDGFRA in Endosonography-Guided Biopsies Optimizes the Preoperative Management of Gastrointestinal Stromal Tumors
AbstractBackgroundNeoadjuvant tyrosine kinase inhibitor (TKI) therapy increases the chance of organ-preserving, radical resection in selected patients with gastrointestinal stromal tumors (GISTs). We aimed to evaluate systematic, immediate DNA sequencing ofKIT andPDGFRA in pretreatment GIST tissue to guide neoadjuvant TKI therapy and optimize preoperative tumor response.MethodsAll patients who were candidates for neoadjuvant therapy of a suspected GIST [the study cohort (SC)] were prospectively included from January 2014 to March 2018. Patients were subjected to pretreatment endosonography-guided fine-needle biopsy (EUS-FN...
Source: Molecular Diagnosis and Therapy - March 2, 2020 Category: Molecular Biology Source Type: research

Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors
ConclusionIn a break from purely in silico approaches, we propose a simple and rapid pretherapeutic functional analysis of somaticBRCA1 variants potentially involved in splicing alterations. This approach will allow more ovarian cancer patients to benefit from new therapies targeting PARP. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 2, 2020 Category: Molecular Biology Source Type: research

Urinary Exosomal MicroRNAs as Potential Non-invasive Biomarkers in Breast Cancer Detection
DiscussionUrine-based BC diagnosis may be achieved through the analysis of distinct microRNA panels with proven biomarker abilities. Subject to further validation, the implementation of urinary BC detection in routine screening offers a promising non-invasive alternative in women ’s healthcare. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 28, 2020 Category: Molecular Biology Source Type: research

Integrin ανβ 6 Protein Expression and Prognosis in Solid Tumors: A Meta-Analysis
AbstractBackground and ObjectiveIntegrins are a family of adhesion receptor proteins that provide signaling from the extracellular matrix to the cytoplasm. They have been associated with cancer by promoting migration, invasion, metastasis, and survival.ανβ6 integrin is upregulated in several tumors. Here, we evaluate the prognostic impact ofανβ6 integrin protein expression in solid tumors.MethodsA systematic search of electronic databases identified publications exploring the effect ofανβ6 integrin on overall survival (OS). Hazard ratios (HRs) were pooled in a meta-analysis using g...
Source: Molecular Diagnosis and Therapy - February 25, 2020 Category: Molecular Biology Source Type: research

Emergence of Circulating MicroRNAs in Breast Cancer as Diagnostic and Therapeutic Efficacy Biomarkers
AbstractBreast cancer is the second most common  cause of deaths reported in women worldwide, and therefore there is a need to identify breast cancer patients at an early stage as timely diagnosis would help in effective management and appropriate monitoring of patients. Nevertheless, it is challenging to achieve these goals due to the lack of a specific biomarker for early detection and monitoring in breast cancer. Recently, microRNAs (miRNAs) have emerged as master regulators of the molecular pathways highlighted in different tumors leading to progression in malignancies. With the rapid advancements in molecula...
Source: Molecular Diagnosis and Therapy - February 17, 2020 Category: Molecular Biology Source Type: research

Correction to: Liquid Biopsy Applications in the Clinic
In the original publication of the article, the name of the fourth author, which previously read"Howard Chan ”, should read as"Howard Chang". The original article has been updated. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 17, 2020 Category: Molecular Biology Source Type: research

Hemolysis and Fetal Fraction in Cell-Free DNA Blood Collection Tubes for Noninvasive Prenatal Testing
ConclusionHemolysis in maternal blood samples collected in specialized cfDNA tubes does not correlate with a decrease in fetal fraction; therefore, it should not be a cause for rejection of samples submitted for prenatal cfDNA testing. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 13, 2020 Category: Molecular Biology Source Type: research

Identifying Biomarkers in Lymph Node Metastases of Esophageal Adenocarcinoma for Tumor-Targeted Imaging
ConclusionsHigh expression rates and correlation between LNM in EAC combined with low expression rates in healthy lymph nodes and esophagus tissues were observed for EpCAM and CEA, meaning these are promising targets for tumor-targeted imaging approaches for lymph nodes in patients with EAC. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 11, 2020 Category: Molecular Biology Source Type: research

Prognostic Value of MicroRNAs in Stage II Colorectal Cancer Patients: A Systematic Review and Meta-Analysis
ConclusionMicroRNAs play a significant role in determining prognosis in stage II CRC patients, with upregulation of miR21, miR215, miR143-5p and miR106a, in particular, portending a worse prognosis. These miRNAs could be considered for further evaluation as biomarkers of prognosis and to guide the decision to administer adjuvant chemotherapy. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 4, 2020 Category: Molecular Biology Source Type: research

The Future of In Utero Gene Therapy
AbstractSignificant advances in the safety and efficacy of gene therapy have sparked a new frontier in therapeutics for genetic diseases as evidenced by the greater than 700 active gene therapy investigational new drug applications reported by the NIH and the US Food and Drug Association. Although postnatal gene therapy trials are encouraging, limitations to effective therapy including an immune barrier and initiation of treatment after disease onset can exist. Advances in prenatal diagnostics provide hope that many genetic abnormalities will be able to be diagnosed before birth. Prenatal gene therapy has the potential to ...
Source: Molecular Diagnosis and Therapy - February 4, 2020 Category: Molecular Biology Source Type: research

Liquid Biopsy Applications in the Clinic
AbstractThe global liquid biopsy industry is expected to exceed $US5 billion by 2023. One application of liquid biopsy technology is the diagnosis of disease using biomarkers found in blood, urine, stool, saliva, and other biological samples from patients. These biomarkers could be DNA, RNA, protein, or even a cell. More recently, the use of cell-free DNA from plasma is emerging as an important minimally invasive tool for clinical diagnosis. The development of technology has increased the diversity of its application. Here, we discuss how liquid biopsies have been used in the clinic, and how personalized medicine are likel...
Source: Molecular Diagnosis and Therapy - January 9, 2020 Category: Molecular Biology Source Type: research

Clinical Utility of Next-Generation Sequencing in Acute Myeloid Leukemia
AbstractAcute myeloid leukemia (AML) is a genetically heterogeneous disease that, even with current advancements in therapy, continues to have a poor prognosis. Recurrent somatic mutations have been identified in a core set of pathogenic genes includingFLT3 (25 –30% prevalence),NPM1 (25 –30%),DNMT3A (25 –30%),IDH1/2 (5 –15%), andTET2 (5 –15%), with direct diagnostic, prognostic, and targeted therapeutic implications. Advances in the understanding of the complex mechanisms of AML leukemogenesis have led to the development and recent US Food and Drug Administration (FDA) approval of several targ...
Source: Molecular Diagnosis and Therapy - December 17, 2019 Category: Molecular Biology Source Type: research

Specialized Blood Collection Tubes for Liquid Biopsy: Improving the Pre-analytical Conditions
ConclusionsThe choice between these specialized BCTs is less vital when they are processed correctly within a few days. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - December 14, 2019 Category: Molecular Biology Source Type: research

Clinical Features and Genetic Polymorphism in Chinese Patients with Erythrodermic Psoriasis in a Single Dermatologic Clinic
ConclusionsThere are HLA differences in Chinese patients with EP compared with patients with PV. The incidence of psoriatic arthritis is also higher. The implications of the above findings await further investigation. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - December 9, 2019 Category: Molecular Biology Source Type: research

Leading RNA Interference Therapeutics Part 2: Silencing Delta-Aminolevulinic Acid Synthase 1, with a Focus on Givosiran
AbstractIn November 2019 givosiran became the second small interfering RNA (siRNA)-based drug to receive US Food and Drug Administration (FDA) approval, it has been developed for the treatment of acute intermittent porphyria (AIP), a disorder characterized by life-threatening acute neurovisceral attacks. The  porphyrias are a group of disorders in which enzymatic deficiencies in heme production lead to toxic accumulation of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG), which are involved in the neurovisceral attacks. Givosiran acts as a conventional siRNA to trigger RNA interference (RNAi) -mediated gene ...
Source: Molecular Diagnosis and Therapy - December 2, 2019 Category: Molecular Biology Source Type: research

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 22, 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 21, 2019 Category: Molecular Biology Source Type: research

Clinical Outcomes of Different Generations of EGFR Tyrosine Kinase Inhibitors in Advanced Lung Adenosquamous Carcinoma
This study was designed to evaluate the efficacy of different generations of EGFR TKI therapy in ASC patients with sensitiveEGFR mutations.MethodsPatients with non-small cell lung cancer (NSCLC) diagnosed at the Shanghai Chest Hospital between January 2010 and December 2016 were retrospectively reviewed.ResultsA total of 10,037 NSCLC patients tested forEGFR mutations were screened, with primary ASC accounting for 1.4% (139/10,037). PositiveEGFR mutations were found in 51.1% (71/139) of ASC patients, including 67 sensitive mutations (19del or 21L858R) and four uncommon mutations (19del  + 20T790M, 21L858R&thin...
Source: Molecular Diagnosis and Therapy - November 12, 2019 Category: Molecular Biology Source Type: research

Acknowledgement to Referees
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - November 11, 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. Th...
Source: Molecular Diagnosis and Therapy - November 7, 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, ...
Source: Molecular Diagnosis and Therapy - November 6, 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 5, 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 31, 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 31, 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 31, 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
In this study, we evaluated whether ssDNA libraries captured more circulating tumor DNA (ctDNA) in plasma cell-free DNA (cfDNA).MethodsWe prepared dsDNA, ssDNA and pure-ssDNA (capture the preexisting ssDNA) libraries using ten plasma cfDNA samples. After low-pass whole genome sequencing, we calculated a duplicate rate to estimate library complexity and compared the library insert sizes between the different library methods. Finally, we estimated the ctDNA content and plasma genomic abnormality (PGA) score, an indicator of ctDNA burden.Results27 libraries were prepared and sequenced from the ten cfDNA samples. The duplicate...
Source: Molecular Diagnosis and Therapy - October 25, 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 19, 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 14, 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 con...
Source: Molecular Diagnosis and Therapy - October 10, 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 8, 2019 Category: Molecular Biology Source Type: research

HLA Correlations with Clinical Phenotypes and Risk of Metabolic Comorbidities in Singapore Chinese Psoriasis Patients
AbstractIntroductionPsoriasis is a systemic, chronic inflammatory disease that not only afflicts the skin but is also associated with cardiovascular disease and metabolic syndrome. The strongest susceptibility loci for the disease is within the human leukocyte antigen (HLA) complex, though specific HLA allelic associations vary between populations.ObjectiveOur objective was to investigate HLA associations with clinical phenotypes of psoriasis and metabolic syndrome in Chinese psoriasis cases.MethodsWe conducted an observational case –control study in Singapore with a cohort of psoriasis cases consecutively recruited ...
Source: Molecular Diagnosis and Therapy - August 31, 2019 Category: Molecular Biology Source Type: research

Loop Mediated Isothermal Amplification: A Promising Tool for Screening Genetic Mutations
AbstractMutation screening is elemental for clinical diagnosis and in determining therapeutic strategies. Nucleic acid-based techniques are considered to be the most accurate tools in genetic diagnosis. One such technique is loop-mediated isothermal amplification (LAMP) assay, which has seen tremendous applications in recent years. The advantages of the assay lie in its rapidity, efficiency, sensitivity, and cost. It works in isothermal conditions and amplifies the target gene using DNA polymerases that have strand displacement activity. To date, the assay has been widely used in different fields of research, including pat...
Source: Molecular Diagnosis and Therapy - August 8, 2019 Category: Molecular Biology Source Type: research

Prognostic Significance of FOXC1 in Various Cancers: A Systematic Review and Meta-Analysis
ConclusionIn summary, FOXC1 protein expression indicated poor survival outcome in various carcinomas, especially in patients with breast cancer, suggesting it as a possible biomarker for the prognosis in multiple carcinomas. Further clinical evaluation and large-scale cohort studies are required to accurately identify its possible clinical utility. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 1, 2019 Category: Molecular Biology Source Type: research