First Responder to Genomic Information: A Guide for Primary Care Providers
AbstractWith rapid advances in genetics and genomics, the commercialization and access to new applications has become more widespread and omnipresent throughout biomedical research. Thus, increasingly, more patients will have personal genomic information they may share with primary care providers (PCPs) to better understand the clinical significance of the data. To be able to respond to patient inquiries about genomic data, variant interpretation, disease risk, and other issues, PCPs will need to be able to increase or refresh their awareness about genetics and genomics, and identify reliable resources to use or refer pati...
Source: Molecular Diagnosis and Therapy - June 7, 2019 Category: Molecular Biology Source Type: research

A Novel Modified System of Simplified Chinese Criteria for Familial Hypercholesterolemia (SCCFH)
ConclusionsThe SCCFH system is comparable to the existing criteria with high levels of sensitivity and specificity, and is easier to use clinically. Further larger prospective studies are needed to evaluate the feasibility and reliability of this system. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - June 6, 2019 Category: Molecular Biology Source Type: research

S1PR1 as a Novel Promising Therapeutic Target in Cancer Therapy
AbstractSphingosine-1-phosphate (S1P) can regulate several physiological and pathological processes. S1P signaling via its cell surface receptor S1PR1 has been  shown to enhance tumorigenesis and stimulate growth, expansion, angiogenesis, metastasis, and survival of cancer cells. S1PR1-mediated tumorigenesis is supported and amplified by activation of downstream effectors including STAT3, interleukin-6, and NF-κB networks. S1PR1 signaling can also trigge r various other signaling pathways involved in carcinogenesis including activation of PI3K/AKT, MAPK/ERK1/2, Rac, and PKC/Ca, as well as suppression of cyc...
Source: Molecular Diagnosis and Therapy - May 21, 2019 Category: Molecular Biology Source Type: research

MicroRNA Profiling in HIV-Infected South African Women with Gestational Diabetes Mellitus
ConclusionOur results demonstrate that HIV infection modifies the expression of miR-20a-5p and miR-222-3p in women with GDM. Importantly, this study highlights the complexities of miRNA profiling and the need for GDM biomarker discovery in both HIV-infected and uninfected individuals, particularly in South Africa, where approximately 30% of pregnancies are complicated by HIV. Further studies to elucidate the mechanisms that underlie these miRNA differences are needed. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - May 20, 2019 Category: Molecular Biology Source Type: research

A Multiplex Quantitative Reverse Transcription Polymerase Chain Reaction Assay for the Detection of KIAA1549 – BRAF Fusion Transcripts in Formalin-Fixed Paraffin-Embedded Pilocytic Astrocytomas
ConclusionThe results show that it could be beneficial to implement the multiplex method in a clinical setting, where samples presenting low quantity of degraded RNA are not unusual. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - May 13, 2019 Category: Molecular Biology Source Type: research

Beneficial Effects of Rhodiola and Salidroside in Diabetes: Potential Role of AMP-Activated Protein Kinase
AbstractDiabetes mellitus represents a chronic metabolic disorder characterized by impaired lipid homeostasis and carbohydrate metabolism, gradually leading to persistent hyperglycemia. The extracts ofRhodiola species are widely used as herbal medicine or dietary supplement in Asia, Europe and the United States. Salidroside, ap-hydroxyphenethyl- β-glucoside compound, is the main active ingredient of theRhodiola root. Recently, various studies have suggested thatRhodiola and salidroside may have pharmacological properties that could be used in the treatment of diabetes, as studies have confirmed that AMP-activated prot...
Source: Molecular Diagnosis and Therapy - May 8, 2019 Category: Molecular Biology Source Type: research

Identification of Candidate Biomarkers for Transplant Rejection from Transcriptome Data: A Systematic Review
ConclusionDespite the need for further research to fill existing knowledge gaps, transcriptomic technologies have a relevant role in the discovery of accurate biomarkers for transplant rejection diagnostics. Studies have reported consistent evidence of differential expression associated with transplant rejection, although issues such as experimental heterogeneity hinder a more systematic characterization of observed molecular changes. Special attention has been giving to large-scale mRNA expression profiling in rejection, whereas there is still room for improvements in the  characterization of miRnome in this conditio...
Source: Molecular Diagnosis and Therapy - May 3, 2019 Category: Molecular Biology Source Type: research

Aptamers as Therapeutic Agents: Has the Initial Euphoria Subsided?
AbstractAptamers are synthetic DNA or RNA oligonucleotide ligands with great potential for therapeutic applications. A vast number of disease-related targets have been used to identify agonistic, antagonistic, or inhibitory aptamers, or aptamer-based targeting ligands. However, only a few aptamers have reached late-stage clinical trials so far and the commercial infrastructure is still far behind that of other therapeutic agents such as monoclonal antibodies. The desirable properties of aptamers such as selectivity, chemical flexibility, or cost-efficiency are faced by challenges, including a short half-life in vivo, immun...
Source: Molecular Diagnosis and Therapy - April 29, 2019 Category: Molecular Biology Source Type: research

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTH β)
AbstractResistance to thyroid hormone beta (RTH β) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). In most cases, the disorder is associated with germline pathogenic variants in the thyroid hormone receptor beta (THRB) gene. This paper summarizes the clinical and biochemical presentation of the disease, providing a comprehensive overview on molecular genetic features. Particular care is given in reporting all identifiedTHRB variants with an assessed or unknown clinical significance. Our aim is to offer a useful tool for clinical and genetic specialists in order to e...
Source: Molecular Diagnosis and Therapy - April 11, 2019 Category: Molecular Biology Source Type: research

Modeling the Outcome of Systematic TPMT Genotyping or Phenotyping Before Azathioprine Prescription: A Cost-Effectiveness Analysis
ConclusionThe phenotype-based strategy to screen for TPMT deficiency dominates (cheaper and more effective) the genotype-based screening strategy in France. Phenotype-based screening dominates no screening in populations with a prevalence of severe myelosuppression due to azathioprine of  >  1%. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - April 8, 2019 Category: Molecular Biology Source Type: research

Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases
AbstractRare diseases pose a global challenge, in that their collective impact on health systems is considerable, whereas their individually rare occurrence impedes research and development of efficient therapies. In consequence, patients and their families are often unable to find an expert for their affliction, let alone a cure. The tide is turning as pharmaceutical companies embrace gene therapy development and as serviceable tools for the repair of primary mutations separate the ability to create cures from underlying disease expertise. Whereas gene therapy by gene addition took decades to reach the clinic by increment...
Source: Molecular Diagnosis and Therapy - April 3, 2019 Category: Molecular Biology Source Type: research

Disruptive Technology: CRISPR/Cas-Based Tools and Approaches
AbstractDesigner nucleases are versatile tools for genome modification and therapy development and have gained widespread accessibility with the advent of clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) technology. Prokaryotic RNA-guided nucleases of CRISPR/Cas type, since first being adopted as editing tools in eukaryotic cells, have experienced rapid uptake and development. Diverse modes of delivery by viral and non-viral vectors and ongoing discovery and engineering of new CRISPR/Cas-type tools with alternative target site requirements, cleavage patterns and DNA- or RNA...
Source: Molecular Diagnosis and Therapy - April 3, 2019 Category: Molecular Biology Source Type: research

Advances in Detection of Kidney Transplant Injury
AbstractEarly detection of graft injury after kidney transplantation is key to maintaining long-term good graft function. Graft injury could be due to a multitude of factors including ischaemia reperfusion injury, cell or antibody-mediated rejection, progressive interstitial fibrosis and tubular atrophy, infections and toxicity from the immunosuppressive drugs themselves. The current gold standard for assessing renal graft dysfunction is renal biopsy. However, biopsy is usually late when triggered by a change in serum creatinine and of limited utility in diagnosis of early injury when histological changes are equivocal. Th...
Source: Molecular Diagnosis and Therapy - April 2, 2019 Category: Molecular Biology Source Type: research

Detection of Solid Tumor Molecular Residual Disease  (MRD) Using Circulating Tumor DNA (ctDNA)
AbstractCirculating tumor DNA (ctDNA) is a component of cell-free DNA that is shed by malignant tumors into the bloodstream and other bodily fluids. Levels of ctDNA are typically low, particularly in patients with localized disease, requiring highly sophisticated methods for detection and quantification. Multiple liquid biopsy methods have been developed for ctDNA analysis in solid tumor malignancies and are now enabling detection and assessment of earlier stages of disease, post-treatment molecular residual disease (MRD), resistance to targeted systemic therapy, and tumor mutational burden. Understanding ctDNA biology, me...
Source: Molecular Diagnosis and Therapy - April 2, 2019 Category: Molecular Biology Source Type: research

Vortex- and Centrifugation-Free Extraction of HIV-1 RNA
ConclusionsFrom a clinical perspective, the success of our method opens up its possible use in diagnostic tests for HIV in the remote areas where access to vortexes and centrifuges is not available. Here we present a proof-of-concept device which, with further development, could be used for sample preparation at the point of care. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 25, 2019 Category: Molecular Biology Source Type: research

Theranostics of Genetic Diseases
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 21, 2019 Category: Molecular Biology Source Type: research

Overexpression of S100A4 Predicts Migration, Invasion, and Poor Prognosis of Hypopharyngeal Squamous Cell Carcinoma
ConclusionThis study demonstrated for the first time that S100A4 expression is upregulated in HSCC tumors and that this upregulation is positively correlated with cervical lymph node metastasis of this malignancy. The metastasis-promoting role of S100A4 was further validated in the HSCC FaDu cell line, indicating that S100A4 is a potential therapeutic target for HSCC. Furthermore, this study suggests that nuclear S100A4 expression could be considered a prognostic biomarker for HSCC. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - March 13, 2019 Category: Molecular Biology Source Type: research

Clinicopathological Features of ALK Expression in 9889 Cases of Non-small-Cell Lung Cancer and Genomic Rearrangements Identified by Capture-Based Next-Generation Sequencing: A Chinese Retrospective Analysis
AbstractBackgroundThe clinicopathological features and genomic rearrangements of anaplastic lymphoma kinase (ALK) fusion cases have not been fully identified.ObjectiveOur objective was to explore the status of ALK in non-small-cell lung cancer (NSCLC) specimens, to explore the relationships between ALK status and clinicopathological features and to identify genomic rearrangements via capture-based next-generation sequencing (NGS).MethodsWe tested 9889 NSCLC specimens for ALK status using the Ventana anti-ALK (D5F3) antibody. Clinicopathological features were analyzed and genomic rearrangements identified using capture-base...
Source: Molecular Diagnosis and Therapy - March 6, 2019 Category: Molecular Biology Source Type: research

Clinicopathological Significance of Overall Frequency of Allelic Loss (OFAL) in Lesions Derived from Thyroid Follicular Cell
AbstractBackgroundLoss of heterozygosity (LOH) and microsatellite instability (MSI) are frequent molecular events in thyroid tumor etiopathogenesis occurring in several chromosomal critical areas, including 3p12 –25.3, 7q21–31, 10q22–24, and 15q11–13, withloci of tumor suppressor genes.ObjectiveWe evaluated the usefulness of LOH/MSI as a diagnostic/prognostic biomarker in lesions derived from thyroid follicular cells: follicular thyroid carcinoma (FTC); follicular adenoma (FA), papillary thyroid carcinoma (PTC), and nodular goiter (NG).MethodsWe performed allelotyping (GeneMapper Software v. 4.0.) o...
Source: Molecular Diagnosis and Therapy - February 11, 2019 Category: Molecular Biology Source Type: research

Targeted Next-Generation Sequencing Validates the Use of Diagnostic Biopsies as a Suitable Alternative to Resection Material for Mutation Screening in Colorectal Cancer
ConclusionsDiagnostic biopsies are adequate and reliable materials for molecular testing by NGS. The use of biopsies for molecular screening will enhance targeted neoadjuvant therapy. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 11, 2019 Category: Molecular Biology Source Type: research

Current Evidence on miRNAs as Potential Theranostic Markers for Detecting Chemoresistance in Colorectal Cancer: A Systematic Review and Meta-Analysis of Preclinical and Clinical Studies
ConclusionStudies have consistently shown that multiple miRNAs could act as clinical predictors of chemoresistance and sensitivity. An inclusion of supplementary miRNA estimation in CRC routine practice needs to be considered to evaluate the efficacy of chemotherapy after confirming our findings with large-scale prospective cohort studies.PROSPERO registration numberCRD42017082196. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 6, 2019 Category: Molecular Biology Source Type: research

Quantitation of all Four Gardnerella vaginalis Clades Detects Abnormal Vaginal Microbiota Characteristic of Bacterial Vaginosis More Accurately than Putative G.   vaginalis Sialidase A Gene Count
ConclusionsQuantifying all fourG. vaginalis clades discriminates between BV microbiota and normal microbiota more accurately than measuringG. vaginalis sialidase A gene. Clade 4 is strongly associated with BV microbiota, despite most clade 4 strains lacking the sialidase A gene. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - February 5, 2019 Category: Molecular Biology Source Type: research

Non-invasive Prenatal Testing Using Fetal DNA
AbstractNon-invasive prenatal diagnosis (NIPD) is based on fetal DNA analysis starting from a simple peripheral blood sample, thus avoiding risks associated with conventional invasive techniques. During pregnancy, the fetal DNA increases to approximately 3 –13% of the total circulating free DNA in maternal plasma. The very low amount of circulating cell-free fetal DNA (ccffDNA) in maternal plasma is a crucial issue, and requires specific and optimized techniques for ccffDNA purification from maternal plasma. In addition, highly sensitive detection a pproaches are required. In recent years, advanced ccffDNA investigat...
Source: Molecular Diagnosis and Therapy - February 2, 2019 Category: Molecular Biology Source Type: research

Omics Studies in Hemoglobinopathies
AbstractHemoglobinopathies include all genetic diseases of hemoglobin and are grouped into thalassemia syndromes and structural hemoglobin variants. The β-thalassemias constitute a group of severe anemias with monogenic inheritance, caused by β-globin gene mutations. This review is focused on omics studies in hemoglobinopathies and mainly β-thalassemia, and discusses genomic, epigenomic, transcriptomic, proteomic and metabolomic findings. Omics a nalyses have identified various disease modifiers with an impact on disease severity and efficacy of treatments. These modifiers have contributed to the understandi...
Source: Molecular Diagnosis and Therapy - February 2, 2019 Category: Molecular Biology Source Type: research

Gene Therapy for Beta-Hemoglobinopathies: Milestones, New Therapies and Challenges
AbstractInherited monogenic disorders such as beta-hemoglobinopathies (BH) are fitting candidates for treatment via gene therapy by gene transfer or gene editing. The reported safety and efficacy of lentiviral vectors in preclinical studies have led to the development of several clinical trials for the addition of a functional beta-globin gene. Across trials, dozens of transfusion-dependent patients with sickle cell disease (SCD) and transfusion-dependent beta-thalassemia (TDT) have been treated via gene therapy and have achieved reduced transfusion requirements. While overall results are encouraging, the outcomes appear t...
Source: Molecular Diagnosis and Therapy - January 30, 2019 Category: Molecular Biology Source Type: research

Lysophosphatidic Acid Receptor 6 (LPAR6) Expression and Prospective Signaling Pathway Analysis in Breast Cancer
This study aimed to evaluate LPAR6 expression in BC patients and to explore its possible role in BC.MethodsA total of 98 pairs of clinical BC and para-cancer tissues were collected, and LPAR6 expression was evaluated by quantitative real-time polymerase chain reaction (qRT-PCR). Kaplan-Meier plots were employed for survival analysis. Human BC cell lines were cultured to study  decitabine (5-aza-2ʹ-deoxycytidine [5-Aza]) intervention. Bioinformatic analyses were carried out to support the study conclusions and predictions.ResultsLPAR6 expression was significantly reduced in BC tissues (p 
Source: Molecular Diagnosis and Therapy - January 29, 2019 Category: Molecular Biology Source Type: research

MicroRNAs and Long Non-coding RNAs in Genetic Diseases
In conclusion, a large number of approaches based on targeting microRNAs and long non-coding RNAs are expected in the field of molecular diagnosis and therapy, with a facilitated technological transfer in the case of rare genetic diseases, in virtue of the existing regulation concerning these diseases. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - January 4, 2019 Category: Molecular Biology Source Type: research

The Molecular Basis of Fuchs ’ Endothelial Corneal Dystrophy
AbstractFuchs ’ endothelial corneal dystrophy (FECD) is a common disease resulting from corneal endothelial cell dysfunction. It is inherited in an autosomal dominant fashion with incomplete penetrance, and with a female bias. Approximately half of cases occur sporadically, and the remainder are familial. Early and late-onset forms of the disease exist. A review of the literature has revealed more than 15 genes harbouring mutations and/or single nucleotide polymorphisms associated with FECD. The proteins encoded by these genes cover a wide range of endothelial function, including transcription regulation, DNA repair,...
Source: Molecular Diagnosis and Therapy - January 3, 2019 Category: Molecular Biology Source Type: research

Integrated Interaction Network of MicroRNA Target Genes in Keloid Scarring
In this study, the valuable miRNAs and target genes were screened and the interaction network was constructed. We also predicted target genes of reported miRNAs using TargetScan and miRTarBase software. Cytoscape 3.0.1 further showed the interaction network of miRNA and target genes. Among the various miRNAs involved in keloid pathogenesis, miRNA-21, miRNA-141-3p, miRNA-181a, and miRNA-205 were thought to up-regulate the proliferation and decrease apoptosis of keloid-derived fibroblasts through the PI3K/Akt/mammalian target of rapamycin (mTOR) signaling pathway. miRNA-637 and miRNA-1224 inhibited keloid fibroblasts prolife...
Source: Molecular Diagnosis and Therapy - January 2, 2019 Category: Molecular Biology Source Type: research

Attenuation of Inherited and Acquired Retinal Degeneration Progression with Gene-based Techniques
This article reviews gene therapy as it can be applied to inherited retinal dystrophies, provides an update of results from recent clinical trials, and discusses the future prospects of gene therapy and genome surgery. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - December 19, 2018 Category: Molecular Biology Source Type: research

Prognostic and Predictive Epigenetic Biomarkers in Oncology
AbstractEpigenetic patterns, such as DNA methylation, histone modifications, and non-coding RNAs, can be both driver factors and characteristic features of certain malignancies. Aberrant DNA methylation can lead to silencing of crucial tumor suppressor genes or upregulation of oncogene expression. Histone modifications and chromatin spatial organization, which affect transcription, regulation of gene expression, DNA repair, and replication, have been associated with multiple tumors. Certain microRNAs (miRNAs), mainly those that silence tumor suppressor genes and occur in a greater number of copies, have also been shown to ...
Source: Molecular Diagnosis and Therapy - December 6, 2018 Category: Molecular Biology Source Type: research

Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients
ConclusionAlthough it was not possible to perform a familial segregation analysis and more direct evidence of the relationship between genotype and phenotype is necessary, both of the novel reported rearrangements cause the loss of crucial functional domains of the BRCA1 protein and this event supports their pathogenicity. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - December 1, 2018 Category: Molecular Biology Source Type: research

Oxidative Stress in β-Thalassemia
AbstractCell oxidative status, which represents the balance between oxidants and antioxidants, is involved in normal functions. Under pathological conditions, there is a shift toward the oxidants, leading to oxidative stress, which is cytotoxic, causing oxidation of cellular components that result in cell death and organ damage. Thalassemia is a hereditary hemolytic anemia caused by mutations in globin genes that cause reduced or complete absence of specific globin chains (commonly, α or β). Although oxidative stress is not the primary etiology of thalassemia, it mediates several of its pathologies. The main cau...
Source: Molecular Diagnosis and Therapy - November 27, 2018 Category: Molecular Biology Source Type: research

Genetic Modifiers of Fetal Haemoglobin in Sickle Cell Disease
AbstractFetal haemoglobin (HbF) levels have a clinically beneficial effect on sickle cell disease (SCD). Patients with SCD demonstrate extreme variability in HbF levels (1 –30%), a large part of which is likely genetically determined. The main genetic modifier loci for HbF persistence,HBS1L-MYB,BCL11A and the β-globin gene cluster in adults also act in SCD patients. Their effects are, however, modified significantly by a disease pathology that includes a drastically shortened erythrocyte lifespan with an enhanced survival of those red blood cells that carry HbF (F cells). We propose a model of how HbF m odifier ...
Source: Molecular Diagnosis and Therapy - November 26, 2018 Category: Molecular Biology Source Type: research

Innovative Therapies for Cystic Fibrosis: The Road from Treatment to Cure
AbstractCystic fibrosis (CF), a life-threatening multiorgan genetic disease, is facing a new era of research and development using innovative gene-directed personalized therapies. The priority organ to cure is the lung, which suffers recurrent and chronic bacterial infection and inflammation since infancy, representing the main cause of morbidity and precocious mortality of these individuals. After the disappointing failure of gene-replacement approaches using gene therapy vectors, no single drug is presently available to repair all the CF gene defects. The impressive number of different CF gene mutations is now tackled wi...
Source: Molecular Diagnosis and Therapy - November 26, 2018 Category: Molecular Biology Source Type: research

Correction to: Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability
An Online First version of this article was made available online. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - November 21, 2018 Category: Molecular Biology Source Type: research

Correction to: The Continuing Evolution of Molecular Functional Imaging in Clinical Oncology: The Road to Precision Medicine and Radiogenomics (Part  II)
An Online First version of this article was made available online at http://link.springer.com/journal/40291/onlineFirst/page/1 on 01 Nov 2018. An error was subsequently identified in the article, and the following correction should be noted. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - November 20, 2018 Category: Molecular Biology Source Type: research

Acknowledgement to Referees
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - November 12, 2018 Category: Molecular Biology Source Type: research

Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives
AbstractShwachman-Diamond syndrome (SDS) is a rare inherited disease mainly caused by mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene. However, it has recently been reported that other genes, including DnaJ heat shock protein family (Hsp40) member C21 (DNAJC21), elongation factor-like 1 (EFL1) and signal recognition particle 54 (SRP54) are also associated with an SDS-like phenotype. Interestingly,SBDS, DNAJC21, EFL1 andSRP54 are involved in ribosome biogenesis: SBDS, through direct interaction with EFL1, promotes the release of the eukaryotic initiation factor 6 (eIF6) during ribosome maturation,DNAJC21 stab...
Source: Molecular Diagnosis and Therapy - November 9, 2018 Category: Molecular Biology Source Type: research

The Continuing Evolution of Molecular Functional Imaging in Clinical Oncology: The Road to Precision Medicine and Radiogenomics (Part I)
AbstractThe present era of precision medicine sees ‘cancer’ as a consequence of molecular derangements occurring at the commencement of the disease process, with morphologic changes happening much later in the process of tumorigenesis. Conventional imaging techniques, such as computed tomography (CT), ultrasound, and magnetic resonance imaging ( MRI), play an integral role in the detection of disease at a macroscopic level. However, molecular functional imaging (MFI) techniques entail the visualisation and quantification of biochemical and physiological processes occurring during tumorigenesis, and thus has the...
Source: Molecular Diagnosis and Therapy - November 8, 2018 Category: Molecular Biology Source Type: research

The Continuing Evolution of Molecular Functional Imaging in Clinical Oncology: The Road to Precision Medicine and Radiogenomics (Part  II)
AbstractThe present era of precision medicine sees “cancer” as a consequence of molecular derangements occurring at the commencement of the disease process, with morphological changes happening much later in the process of tumourigenesis. Conventional imaging techniques, such as computed tomography (CT), ultrasound (US) and magnetic resonance im aging (MRI) play an integral role in the detection of disease at the macroscopic level. However, molecular functional imaging (MFI) techniques entail the visualisation and quantification of biochemical and physiological processes occurring during tumourigenesis. MFI has...
Source: Molecular Diagnosis and Therapy - November 1, 2018 Category: Molecular Biology Source Type: research

Precision Medicine: A New Era
(Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 31, 2018 Category: Molecular Biology Source Type: research

Biochemical Markers for the Early Identification of Osteoarthritis: Systematic Review and Meta-Analysis
ConclusionAlthough a wide range of biomarkers has been previously investigated  in early OA, the diagnostic value of these biomarkers could not be determined because due to a low number of studies regarding any given biomarker. Large prospective and adequately powered studies are therefore required to validate these (and other) biomarkers for identifying early OA. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 30, 2018 Category: Molecular Biology Source Type: research

Detection of a Traumatic Brain Injury Biomarker at the 10  fg/mL Level
ConclusionThe results reported in this work using the field effect enzymatic detection (FEED)-based immunoassay indicate the feasibility of using this method for the detection of extremely low concentrations of markers of mTBI in human serum. This method can be developed as a platform for a range of markers of mTBI. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 30, 2018 Category: Molecular Biology Source Type: research

Advances in Carbon Nanotubes for Malignant Melanoma: A Chance for Treatment
AbstractMalignant melanoma is an aggressive skin cancer with limited therapeutic options. Cancer is the second largest cause of death in society and one of the most difficult diseases to treat. Advances in biotechnology have enabled the current use of nanotechnology via the application of nanomaterials, especially as drug delivery systems for the transportation of very small particles. In this context, carbon nanotubes, with a potential role in the diagnosis and treatment of melanoma, are still an emerging research field. Their properties have been extensively studied for the use of antineoplastics drugs, as well as for DN...
Source: Molecular Diagnosis and Therapy - October 27, 2018 Category: Molecular Biology Source Type: research

TLR4 Polymorphisms and Expression in Solid Cancers
AbstractToll-like receptors (TLRs) are a type of pattern-recognition receptor (PRR) that are part of the innate immune system known to recognize pathogen-associated molecular patterns and thereby play a crucial role in host immune response. Among the various known TLRs, TLR4 is one of the most extensively studied PRRs expressed by immune, certain nonimmune, and tumor cells. When TLR4 binds with the bacterial lipopolysaccharide, it induces production of proinflammatory cytokines, chemokines, and effector molecules as part of the immune response. Continuous exposure to pathogens and TLR4 signaling results in chronic inflamma...
Source: Molecular Diagnosis and Therapy - October 11, 2018 Category: Molecular Biology Source Type: research

Molecular Testing in EBUS-TBNA Specimens of Lung Adenocarcinoma: A Study of Concordance Between Cell Block Method and Liquid-Based Cytology in Appraising Sample Cellularity and EGFR Mutations
ConclusionsThis study demonstrates the feasibility ofEGFR mutation analysis with both cell block and LBC, with an excellent concordance between the two methods. Considering that the majority of advanced NSCLCs are diagnosed on cytology specimens, LBC is feasible and needs to be implemented for ancillary tests (immunocytochemistry, molecular analysis). (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 1, 2018 Category: Molecular Biology Source Type: research

Current Transport Systems and Clinical Applications for Small Interfering RNA (siRNA) Drugs
AbstractSmall interfering RNAs (siRNAs) are an attractive new agent with potential as a therapeutic tool because of its ability to inhibit specific genes for many conditions, including viral infections and cancers. However, despite this potential, many challenges remain, including off-target effects, difficulties with delivery, immune responses, and toxicity. Traditional genetic vectors do not guarantee that siRNAs will silence genes in vivo. Rational design strategies, such as chemical modification, viral vectors, and non-viral vectors, including cationic liposomes, polymers, nanocarriers, and bioconjugated siRNAs, provid...
Source: Molecular Diagnosis and Therapy - October 1, 2018 Category: Molecular Biology Source Type: research

Alzheimer ’s Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing
AbstractThe advent of next-generation sequencing has changed genetic diagnostics, allowing clinicians to test concurrently for phenotypically overlapping conditions such as Alzheimer ’s disease (AD) and frontotemporal dementia (FTD). However, to interpret genetic results, clinicians require an understanding of the benefits and limitations of different genetic technologies, such as the inability to detect large repeat expansions in such diseases asC9orf72-associated FTD and amyotrophic lateral sclerosis. Other types of mutations such as large deletions or duplications and triple repeat expansions may also go undetecte...
Source: Molecular Diagnosis and Therapy - October 1, 2018 Category: Molecular Biology Source Type: research

Validation Strategy for Ultrasensitive Mutation Detection
ConclusionsThe VAF correction was found to be more significant than haplotype correction. It is imperative that various technologies be evaluated against each other and laboratories be provided with defined quality control samples for proficiency testing. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - October 1, 2018 Category: Molecular Biology Source Type: research