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Expert Review of Molecular Diagnostics

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https://www.readbyqxmd.com/read/29200322/selecting-analytical-biomarkers-for-diagnostic-applications-a-first-principles-approach
#1
Samantha A Byrnes, Bernhard H Weigl
Biomarkers are objective indications of a medical state that can be measured accurately and reproducibly. Traditional biomarkers enable diagnosis of disease through detection of disease-specific molecules, disease-mediated molecular changes, or distinct physiological or anatomical signatures. Areas covered: This work provides a framework for selecting biomarkers that are most likely to provide useful information about a patient's disease state. Though the authors emphasize markers related to disease, this work is also applicable to biomarkers for monitoring physiological changes such as ovulation or pregnancy...
December 4, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29172773/an-update-on-liquid-biopsy-analysis-for-diagnostic-and-monitoring-applications-in-non-small-cell-lung-cancer
#2
Clara Mayo-de-Las-Casas, Mónica Garzón Ibáñez, Núria Jordana-Ariza, Beatriz García-Peláez, Ariadna Balada-Bel, Sergio Villatoro, Umberto Malapelle, Niki Karachaliou, Giancarlo Troncone, Rafael Rosell, Miguel Angel Molina-Vila
Collection of tumor samples is not always feasible in non-small cell lung cancer (NSCLC) patients, and circulating free DNA (cfDNA) extracted from blood represents a viable alternative. Different sensitive platforms have been developed for genetic cfDNA testing, some of which are already in clinical use. However, several difficulties remain, particularly the lack of standardization of these methodologies. Areas covered: Here, the authors present a review of the literature to update the applicability of cfDNA for diagnosis and monitoring of NSCLC patients...
November 26, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29171309/what-is-the-potential-of-nanolock-and-nanocross-nanopore-technology-in-cancer-diagnosis
#3
Li-Qun Gu, Kent S Gates, Michael X Wang, Guangfu Li
No abstract text is available yet for this article.
November 24, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29148856/novel-applications-for-serum-procalcitonin-testing-in-clinical-practice
#4
Justin J Choi, Matthew W McCarthy
Procalcitonin has emerged as a reliable marker of acute bacterial infection in hospitalized patients and the assay has recently been incorporated into several clinical algorithms to reduce antimicrobial overuse, but its use in patients with end-organ dysfunction is controversial. Areas covered: In this review, the authors examine what is known about procalcitonin testing in patients with organ dysfunction, including those with end-stage renal disease, congestive heart failure, chronic obstructive pulmonary disease, and cirrhosis, and explore how the assay is now being used in the management of non-infectious diseases...
November 17, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28952822/recent-advances-in-the-molecular-diagnosis-of-polycystic-kidney-disease
#5
Carsten Bergmann
Polycystic kidney disease (PKD) is clinically and genetically heterogeneous and constitutes the most common heritable kidney disease. Most patients are affected by the autosomal dominant form (ADPKD) which generally is an adult-onset multisystem disorder. By contrast, the rarer recessive form ARPKD usually already manifests perinatally or in childhood. In some patients, however, ADPKD and ARPKD can phenotypically overlap with early manifestation in ADPKD and only late onset in ARPKD. Progressive fibrocystic renal changes are often accompanied by severe hepatobiliary changes or other extrarenal abnormalities...
November 16, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29134827/serum-plasma-and-saliva-biomarkers-for-head-and-neck-cancer
#6
Lidia Maria Rebolho Batista Arantes, Ana Carolina de Carvalho, Matias Eliseo Melendez, André Lopes Carvalho
Head and neck squamous cell carcinoma (HNSCC) encompasses tumors arising from several locations (oral and nasal cavities, paranasal sinuses, salivary glands, pharynx, and larynx) and currently stands as the sixth most common cancer worldwide. The most important risk factors identified so far are tobacco and alcohol consumption, and, for a subgroup of HNSCCs, infection with high-risk types of human papillomavirus (HPV). Despite several improvements in the treatment of these tumors in the last decades, overall survival rates have only improved marginally, mainly due to the advanced clinical stage at diagnosis and the high rates of treatment failure associated with this late diagnosis...
November 14, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29057681/liquid-biopsy-in-non-small-cell-lung-cancer-a-key-role-in-the-future-of-personalized-medicine
#7
Can Pi, Ming-Feng Zhang, Xiao-Xiao Peng, Yi-Chen Zhang, Chong-Rui Xu, Qing Zhou
Liquid biopsies, especially the analysis of circulating tumor DNA (ctDNA), as a novel and non-invasive method for the diagnosis and monitoring of non-small cell lung cancer (NSCLC) have already been implemented in clinical settings. The majority of ctDNA is released from apoptotic or necrotic tumor cells, thus reflecting the genetic profile of a tumor. Numerous studies have reported a high concordance in mutation profiles derived from liquid biopsy and tissue biopsy, especially in driver genes. Liquid biopsy could overcome the clonal heterogeneity of tumour biopsy, as it provides a single snapshot of a tumour tissue...
November 14, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29115895/droplet-based-digital-pcr-and-next-generation-sequencing-for-monitoring-circulating-tumor-dna-a-cancer-diagnostic-perspective
#8
Mathilde Postel, Alice Roosen, Pierre Laurent-Puig, Valerie Taly, Shu-Fang Wang-Renault
Early detection of cancers through the analysis of ctDNA could have a significant impact on morbidity and mortality of cancer patients. However, using ctDNA for early cancer diagnosis is challenging partly due to the low amount of tumor DNA released in the circulation and its dilution within DNA originating from non-tumor cells. Development of new technologies such as droplet-based digital PCR (ddPCR) or optimized next generation sequencing (NGS) has greatly improved the sensitivity, specificity and precision for the detection of rare sequences...
November 13, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29088981/hepatitis-c-point-of-care-diagnostics-in-search-of-a-single-visit-diagnosis
#9
Jason Grebely, Tanya L Applegate, Philip Cunningham, Jordan J Feld
The availability of simple, tolerable, therapies for hepatitis C virus (HCV) infection with responses >95% is one of the greatest medical advances in decades, offering an opportunity to reverse the rising burden due to HCV and strive towards HCV elimination. A key challenge moving forward will be to ensure that those who are undiagnosed are made aware of their infection, receive HCV therapy and achieve viral cure. The availability of point-of-care tests for HCV infection has the potential to simplify testing algorithms, increase diagnoses, and facilitate linkage to treatment...
November 8, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29039978/preimplantation-genetic-testing-current-challenges-and-future-prospects
#10
Anver Kuliev, Svetlana Rechitsky
Preimplantation genetic testing (PGT) is now a widely applied procedure in genetic practices and ART, with more than one third of ART Centers in US already utilizing PGT technology. Its indications have also been significantly extended to include common late-onset disorders and non-genetic conditions, such as testing for HLA match. Areas covered: This is a critical review of the developments in PGT, with emphasis on their outstanding limitations and directions for the future research and practice in the area of PGT...
November 8, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29032709/putative-predictors-of-efficacy-for-immune-checkpoint-inhibitors-in-non-small-cell-lung-cancer-facing-the-complexity-of-the-immune-system
#11
Giulia Grizzi, Mario Caccese, Anastasios Gkountakos, Luisa Carbognin, Giampaolo Tortora, Emilio Bria, Sara Pilotto
In non-small-cell lung cancer (NSCLC) the recent introduction of immunotherapy in daily clinical practice produced a wave of enthusiasm, however, this was rapidly moderated by the evidence that only some patients could experience a relevant clinical benefit. Therefore, a great effort from the scientific community has been dedicated to the identification and validation of reliable biomarkers able to drive the activity of immunotherapeutic agents. Areas covered: This analysis aims to review the main findings about predictive biomarkers for immunotherapy in lung cancer, retracing the history of PD-L1 and focusing on a series of innovative candidates, such as mutational load, immune cell populations and microbiome...
October 23, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29034791/point-of-care-testing-in-the-pharmacy-how-is-the-field-evolving
#12
Donald G Klepser, Michael E Klepser
No abstract text is available yet for this article.
October 19, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28965426/implementation-of-antimicrobial-peptides-for-sample-preparation-prior-to-nucleic-acid-amplification-in-point-of-care-settings
#13
Katrin Krõlov, Julia Uusna, Tiia Grellier, Liis Andresen, Jekaterina Jevtuševskaja, Indrek Tulp, Ülo Langel
BACKGROUND: A variety of sample preparation techniques are used prior to nucleic acid amplification. However, their efficiency is not always sufficient and nucleic acid purification remains the preferred method for template preparation. Purification is difficult and costly to apply in point-of-care (POC) settings and there is a strong need for more robust, rapid, and efficient biological sample preparation techniques in molecular diagnostics. METHODS: Here, the authors applied antimicrobial peptides (AMPs) for urine sample preparation prior to isothermal loop-mediated amplification (LAMP)...
October 9, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28945154/the-clinical-implications-of-molecular-monitoring-and-analyses-of-inherited-retinal-diseases
#14
Oscar F Chacón-Camacho, Leopoldo A García-Montaño, Juan C Zenteno
Retinal dystrophies (RDs) are the most common cause of inherited blindness and one of the most genetically heterogeneous human diseases. RDs arise from mutations in genes involved in development and function of photoreceptors or other retinal cells. Identification of the genetic defect causing RD allows accurate diagnosis, prognosis, and counseling in affected patients. Molecular diagnosis is a tremendous challenge in RDs due to their locus and phenotypic heterogeneity. As conventional DNA sequencing approaches are impractical in such situation, Next Generation Sequencing (NGS)-based protocols are needed to identify RD-causing mutations...
October 5, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28954554/circulating-tumor-dna-as-a-biomarker-to-guide-therapy-in-post-operative-locally-advanced-rectal-cancer-the-best-option
#15
Jeanne Tie, Christine Semira, Peter Gibbs
No abstract text is available yet for this article.
September 28, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28937839/tza-a-novel-assay-for-measuring-the-latent-hiv-1-reservoir
#16
Phalguni Gupta, Anwesha Sanyal, Robbie B Mailliard
No abstract text is available yet for this article.
September 28, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28931314/the-diagnostic-potential-of-mutation-detection-from-single-circulating-tumor-cells-in-cancer-patients
#17
Francesca Salvianti, Pamela Pinzani
Circulating tumor cells (CTCs) have gained importance in the oncology field as biomarkers of tumor development. The most relevant observation that emerged from the recent studies on CTCs is their heterogeneity, which can be investigated by new technologies for single cell analysis. Areas covered: This review considers the most recent advances (limited to the last two years) in the mutational analysis of single CTCs with a critical point of view on the technical challenges still to be faced and the steps needed to reach a standardization of the procedures able to translate these new approaches into clinical practice...
September 22, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28891364/an-update-on-pcr-use-for-minimal-residual-disease-monitoring-in-acute-lymphoblastic-leukemia
#18
Vittorio Nunes, Gianni Cazzaniga, A Biondi
Acute lymphoblastic leukemia (ALL) is the first neoplasm where the assessment of early response to therapy by minimal residual disease (MRD) monitoring has proven to be a fundamental tool for guiding therapeutic choices. In recent years, thanks to real-time quantitative PCR (qPCR), MRD monitoring has further achieved higher levels of sensitivity and standardization. However, some outstanding issues still remain to be addressed and emerging technologies hold the promise of improving MRD detection in ALL patients...
September 21, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28929824/size-and-methylation-mosaicism-in-males-with-fragile-x-syndrome
#19
Poonnada Jiraanont, Madhur Kumar, Hiu-Tung Tang, Glenda Espinal, Paul J Hagerman, Randi J Hagerman, Nuanchan Chutabhakdikul, Flora Tassone
OBJECTIVES: Size and methylation mosaicism are a common phenomenon in Fragile X syndrome (FXS). Here, the authors report a study on twelve fragile X males with atypical mosaicism, seven of whom presented with autism spectrum disorder. METHODS: Southern Blot and PCR analysis was used for CGG allele sizing and methylation. FMR1 mRNA and FMRP expression were measured by qRT-PCR and by Homogeneous Time Resolved Fluorescence methodology respectively. RESULTS: DNA analysis showed atypical size- or methylation-mosaicism with both, full mutation and smaller (normal to premutation) alleles, as well as a combination of methylated and unmethylated alleles...
September 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29069958/pd-l1-immunohistochemistry-for-non-small-cell-lung-carcinoma-which-strategy-should-be-adopted
#20
Paul Hofman
PD-L1 detection with immunohistochemistry (IHC) is the only predictive biomarker available to date for PD-L1/PD1 immunotherapy in thoracic oncology. While many studies have been published on this biomarker, they raise a number of questions concerning mainly, (i) the type of antibody for use and its condition of utilization, (ii) the threshold to be used, (iii) the message and information to communicate to the thoracic oncologist and, (iv) the adoption of this methodology as part of the daily practices of a pathology laboratory...
December 2017: Expert Review of Molecular Diagnostics
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