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Expert Review of Molecular Diagnostics

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https://www.readbyqxmd.com/read/28317407/using-molecular-diagnostic-testing-to-personalize-the-treatment-of-patients-with-gastrointestinal-stromal-tumors
#1
Amber E Bannon, Lillian R Klug, Christopher L Corless, Michael C Heinrich
The diagnosis and treatment of gastrointestinal stromal tumor (GIST) has emerged as a paradigm for modern cancer treatment ("precision medicine"), as it highlights the importance of matching molecular defects with specific therapies. Over the past two decades, the molecular classification and diagnostic work up of GIST has been radically transformed, accompanied by the development of molecular therapies for specific subgroups of GIST. This review summarizes the developments in the field of molecular diagnosis of GIST, particularly as they relate to optimizing medical therapy...
March 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28317400/nanodiagnostics-for-tuberculosis-detection
#2
Hesham El-Samadony, Asma Althani, Mohamed Awad Tageldin, Hassan M E Azzazy
Introduction Tuberculosis (TB) is a leading killer worldwide. End TB strategy aims at ending the TB epidemic by 2030. Early, accurate, and affordable diagnosis represents a cornerstone to achieve this goal. Innovative strategies for TB diagnostics have been introduced, however the ideal assay is yet unavailable and conventional methods remain necessary for diagnosis. Unique properties of nanoparticles (NPs) have allowed their utilization in TB detection via targeting disease biomarkers. Area Covered Until now, around thirty-five TB NP-based assays have been partially or fully characterized...
March 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28317395/clinical-metabolomics-a-pivotal-tool-for-companion-diagnostic-development-and-precision-medicine
#3
Vladimir Tolstikov, Viatcheslav R Akmaev, Rangaprasad Sarangarajan, Niven R Narain, Michael A Kiebish
No abstract text is available yet for this article.
March 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28306358/the-genetics-of-gastroesophageal-adenocarcinoma-and-the-use-of-circulating-cell-free-dna-for-disease-detection-and-monitoring
#4
Mark R Openshaw, Catherine J Richards, David S Guttery, Jacqueline A Shaw, Anne L Thomas
Gastroesophageal adenocarcinoma (GOA) is a frequently occurring cancer worldwide with a poor clinical outcome. Adenocarcinomas of the oesophagus and gastroesophageal junction have shown a recent increase in frequency, therefore there is need to increase our understanding of GOA in order to improve our ability to detect, monitor and treat the disease. Areas covered: The authors discuss the current classification of GOA in the context of recent changes in incidence. The authors also discuss developments in the understanding of disease biology and recent discoveries from whole genome and whole exome sequencing, and studies in immunotherapy...
March 17, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28266230/the-introduction-of-syphilis-point-of-care-tests-in-resource-limited-settings
#5
Michael Marks, David Cw Mabey
Syphilis remains an important and preventable cause of stillbirth and neonatal mortality. About 1 million women with active syphilis become pregnant each year. Without treatment, 25% of them will deliver a stillborn baby and 33% a low birth weight baby with an increased chance of dying in the first month of life. Adverse pregnancy outcomes due to syphilis can be prevented by screening pregnant women, and treating those who test positive with a single dose of penicillin before 28 weeks' gestation. Areas covered: This manuscript covers the impact of syphilis on pregnancy outcome, the diagnosis of syphilis, with a special focus on point of care (POC) tests, and challenges to the introduction of POC tests, and their potential impact on the control and prevention of syphilis in resource limited settings...
March 14, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28277880/genomic-tests-to-guide-prostate-cancer-management-following-diagnosis
#6
Michele Colicchia, Alessandro Morlacco, John C Cheville, R Jeffrey Karnes
Prostate cancer (PCa) is a common cancer in men, but variable clinical behaviors make its management challenging. Risk stratification is a key issue in disease management. Patient-tailored strategies are strongly advocated to reduce unnecessary treatment while maximizing the oncological outcomes of patient who need active treatment in the primary, adjuvant or salvage setting. Recently, tissue-based biomarkers or genomic tests have become available to improve the clinical decision-making. Areas covered: In this review, the authors present recent evidence about these tissue-based biomarkers, discussing the application of each of them in the clinical setting, focusing on the tests aimed to provide a better risk stratification and to guide decision-making after the diagnosis of PCa (i...
March 13, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28274167/an-update-on-the-molecular-diagnosis-of-congenital-heart-disease-focus-on-loss-of-function-mutations
#7
Yan-Jie Li, Yi-Qing Yang
Congenital heart disease (CHD) is the most common birth defect in humans. In spite of tremendous advance in medical care, CHD is still a major contributor to substantial morbidity and mortality. Aggregating evidence demonstrates that genetic defects play a pivotal role in the pathogenesis of CHD, and an increasing number of genetic mutations have been identified to be responsible for CHD. Areas covered: This paper is restricted to the molecular diagnosis of CHD, and highlights loss-of-function mutations in the genes associated with CHD...
March 8, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28271738/profile-of-instrumentation-laboratory-s-hemosil%C3%A2-acustar-hit-ab-pf4-h-assay-for-diagnosis-of-heparin-induced-thrombocytopenia
#8
Michael Nagler, Adam C Cuker
Immunoassays play an essential role in the diagnosis of heparin-induced thrombocytopenia (HIT). The objective of this article is to review HemosIL® AcuStar HIT-Ab(PF4-H) (Instrumentation Laboratory, Bedford, MA, USA), a new chemiluminescent immunoassay for HIT. Areas covered: The authors searched the published literature for evaluation studies of HemosIL® AcuStar HIT-Ab(PF4-H) and sought information from the manufacturer. In this paper, the authors discuss the analytical principle and technical aspects of the assay; describe its diagnostic performance in validation studies; report on its reproducibility, cost-effectiveness, and regulatory status; and discuss the implications of the assay on clinical practice and means of integrating it in diagnostic pathways...
March 8, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28277143/profile-of-roche-s-cobas%C3%A2-hcv-tests
#9
Harald H Kessler, Evelyn Stelzl
Molecular assays for detection and accurate quantitation of hepatitis C virus (HCV) RNA have been important for identification and management of the hepatitis C. Furthermore, the HCV genotype should be assessed prior to treatment initiation. Recently, Roche developed the cobas® HCV tests for use on the cobas® 6800/8800 Systems and the cobas® 4800 System and the cobas® HCV genotyping (GT) test for use on the cobas® 4800 System. Areas covered: The analytic and clinical performance of the newly-developed tests is described according to the currently existing literature...
February 22, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28277145/impact-of-next-generation-sequencing-on-diagnosis-and-management-of-neurometabolic-disorders-current-advances-and-future-perspectives
#10
Maja Tarailo-Graovac, Wyeth W Wasserman, Clara D M Van Karnebeek
No abstract text is available yet for this article.
February 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28277144/molecular-tests-potentially-improving-hpv-screening-and-genotyping-for-cervical-cancer-prevention
#11
Ana Gradíssimo, Robert D Burk
Human papillomavirus (HPV)-related cancers can be averted by type-specific vaccination (primary prevention) and/or through detection and ablation of precancerous cervical lesions (secondary prevention). This review presents current challenges to cervical cancer screening programs, focusing on recent molecular advances in HPV testing and potential improvements on risk stratification. Areas covered: High-risk (HR)-HPV DNA detection has been progressively incorporated into cervix cancer prevention programs based on its increased sensitivity...
February 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28135893/recent-advances-in-biochemical-and-molecular-diagnostics-for-the-rapid-detection-of-antibiotic-resistant-enterobacteriaceae-a-focus-on-%C3%A3-lactam-resistance
#12
Jean-Winoc Decousser, Laurent Poirel, Patrice Nordmann
The rapid detection of resistance is a challenge for clinical microbiologists who wish to prevent deleterious individual and collective consequences such as (i) delaying efficient antibiotic therapy, which worsens the survival rate of the most severely ill patients, or (ii) delaying the isolation of the carriers of multidrug-resistant bacteria and promoting outbreaks; this last consequence is of special concern, and there are an increasing number of approaches and market-based solutions in response. Areas covered: From simple, cheap biochemical tests to whole-genome sequencing, clinical microbiologists must select the most adequate phenotypic and genotypic tools to promptly detect and confirm β-lactam resistance from cultivated bacteria or from clinical specimens...
February 20, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28092481/the-effect-of-main-urine-inhibitors-on-the-activity-of-different-dna-polymerases-in-loop-mediated-isothermal-amplification
#13
Jekaterina Jevtuševskaja, Katrin Krõlov, Indrek Tulp, Ülo Langel
BACKGROUND: The use of rapid amplification methods to detect pathogens in biological samples is mainly limited by the amount of pathogens present in the sample and the presence of inhibiting substances. Inhibitors can affect the amplification efficiency by either binding to the polymerase, interacting with the DNA, or interacting with the polymerase during primer extension. Amplification is performed using DNA polymerase enzymes and even small changes in their activity can influence the sensitivity and robustness of molecular assays Methods: The main purpose of this research was to examine which compounds present in urine inhibit polymerases with strand displacement activity...
January 29, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28103450/paper-based-analytical-devices-for-clinical-diagnosis-recent-advances-in-the-fabrication-techniques-and-sensing-mechanisms
#14
Mazhar Sher, Rachel Zhuang, Utkan Demirci, Waseem Asghar
There is a significant interest in developing inexpensive portable biosensing platforms for various applications including disease diagnostics, environmental monitoring, food safety, and water testing at the point-of-care (POC) settings. Current diagnostic assays available in the developed world require sophisticated laboratory infrastructure and expensive reagents. Hence, they are not suitable for resource-constrained settings with limited financial resources, basic health infrastructure, and few trained technicians...
January 19, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28058850/molecular-diagnostics-in-the-management-of-rhabdomyosarcoma
#15
Michael A Arnold, Fredric G Barr
A classification of rhabdomyosarcoma (RMS) with prognostic relevance has primarily relied on clinical features and histologic classification as either embryonal or alveolar RMS. The PAX3-FOXO1 and PAX7-FOXO1 gene fusions occur in 80% of cases with the alveolar subtype and are more predictive of outcome than histologic classification. Identifying additional molecular hallmarks that further subclassify RMS is an active area of research. Areas Covered: The authors review the current state of the PAX3-FOXO1 and PAX7-FOXO1 fusions as prognostic biomarkers...
January 6, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28043179/the-cobas%C3%A2-6800-8800-system-a-new-era-of-automation-in-molecular-diagnostics
#16
Bryan Cobb, Christian O Simon, Susan L Stramer, Barbara Body, P Shawn Mitchell, Natasa Reisch, Wendy Stevens, Sergio Carmona, Louis Katz, Stephen Will, Oliver Liesenfeld
Molecular diagnostics is a key component of laboratory medicine. Here, the authors review key triggers of ever-increasing automation in nucleic acid amplification testing (NAAT) with a focus on specific automated Polymerase Chain Reaction (PCR) testing and platforms such as the recently launched cobas® 6800 and cobas® 8800 Systems. The benefits of such automation for different stakeholders including patients, clinicians, laboratory personnel, hospital administrators, payers, and manufacturers are described...
January 3, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28004592/non-culture-based-diagnostics-for-intravascular-catheter-related-bloodstream-infections
#17
Li Zhang, C M Rickard
intravascular catheter related bloodstream infection (IVC-BSI) is a leading cause of nosocomial infections and associated with significant morbidity and mortality. Early detection and adequate treatment of causative pathogens is critical for a favourable outcome. However, it takes significant time to receive microbiological results due to the current reference diagnostic method's reliance on microbial growth. Areas covered: This review discusses culture and non-culture based techniques for the diagnosis of non IVC-BSI and IVC-BSI, including molecular methods and biomarkers...
January 2, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28034324/p16-overexpression-in-braf-mutated-gastrointestinal-stromal-tumors
#18
Shan-Shan Shi, Xuan Wang, Qiu-Yuan Xia, Qiu Rao, Qin Shen, Sheng-Bin Ye, Rui Li, Qun-Li Shi, Zhen-Feng Lu, Heng-Hui Ma, Xiao-Jun Zhou
BACKGROUND: The aims of this study were to analyze the histopathology, immunophenotype, molecular features, and prognosis in cases of BRAF-mutated gastrointestinal stromal tumors (GISTs) and to examine the p16 expression in these tumors, and further discuss its effects on tumor formation and progression. METHODS: In all, 283 GIST cases (201 KIT mutants, 12 PDGFRA mutants and 70 wild-type) from the 2010 to 2014 surgical pathology files of the Department of Pathology at Nanjing Jinling Hospital were analyzed for mutations in BRAF exon 15...
December 30, 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/27900885/selecting-heart-failure-patients-for-metabolic-interventions
#19
Harmen G Booij, Anne M Koning, Harry van Goor, Rudolf A de Boer, B Daan Westenbrink
Heart failure (HF) has become the cardiovascular epidemic of the century and now imposes an immense burden on health care systems. While our understanding of the pathophysiology of HF has increased dramatically, the translation of knowledge into clinical practice has been disappointing. Metabolic dysfunction in HF has been studied for eight decades, but these efforts have not resulted in effective therapies. This paucity in clinical translation probably results from the variable contribution of metabolic dysfunction to the underlying heart disease...
December 28, 2016: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28218019/nucleic-acid-amplification-methodologies-for-the-detection-of-pulmonary-mold-infections
#20
Matthew William McCarthy, Ruta Petraitiene, Thomas J Walsh
The detection of pulmonary mold infections has historically required technically demanding methods obtained through invasive procedures. Nucleic acid amplification assays have the potential to circumvent the technical hurdles associated with diagnosis, but are not without potential pitfalls. Areas covered: In this paper, the authors review new assays for the diagnosis of pulmonary mold infections due to aspergillosis, mucormycosis, and hyalohyphomycoses as well as uncommon infections caused by dematiaceous molds...
March 2017: Expert Review of Molecular Diagnostics
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