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Expert Review of Molecular Diagnostics

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https://www.readbyqxmd.com/read/28524737/utilizing-next-generation-sequencing-in-the-management-of-multiple-myeloma
#1
Marta Lionetti, Antonino Neri
Multiple myeloma (MM) is a bone marrow plasma cell malignancy characterized by wide clinical presentation and heterogeneous genetic background. Despite the recent advances in patient outcome, new markers are needed for improving risk prediction and choice of a more appropriate therapy. In this perspective, the genetic makeup of MM cells is being better characterized by means of next-generation sequencing (NGS) technologies. Areas covered: The authors discuss how the application of NGS has improved our knowledge of MM biology by discovering its mutational landscape, identifying the operating mutational processes, and revealing the clonal composition of tumors and the dynamics of its evolution; and how this can have important clinical implications in terms of prognostication, therapeutic choices, and response assessment...
May 19, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28524730/recent-advances-in-genetic-testing-for-familial-hypercholesterolemia
#2
Michael A Iacocca, Robert A Hegele
Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a central part of diagnosis. Areas covered: Recent advances have been propelled by an improved understanding of the genetic determinants of FH together with substantially reduced costs of appropriate screening strategies...
May 19, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28480776/advances-in-the-role-of-cytogenetic-analysis-in-the-molecular-diagnosis-of-b-cell-lymphomas
#3
Béatrice Grange, Evelyne Callet-Bauchu, Gilles Salles, Pierre Sujobert
Cytogenetic abnormalities represent essential determinants of diagnosis and prognosis in B-cell lymphomas. Their theranostic value is increasingly significant with the development of targeted therapies, in order to adapt the treatment at diagnosis as well as when relapse occurs. Areas covered: As the significance of these biomarkers is influenced by the technology used to detect them, an overview describing the strength and weakness of conventional and emerging technologies is provided. This review also updates the diverse cytogenetic abnormalities found in B-cell lymphomas, emphasizing their value in treatment decision...
May 15, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28468520/the-role-of-biomarkers-in-the-management-of-epithelial-ovarian-cancer
#4
Wei-Lei Yang, Zhen Lu, Robert C Bast
Despite advances in surgery and chemotherapy for ovarian cancer, 70% of women still succumb to the disease. Biomarkers have contributed to the management of ovarian cancer by monitoring response to treatment, detecting recurrence, distinguishing benign from malignant pelvic masses and attempting to detect disease at an earlier stage. Areas covered: This review focuses on recent advances in biomarkers and imaging for management of ovarian cancer with particular emphasis on early detection. Relevant literature has been reviewed and analyzed...
May 15, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28459185/karyomapping-and-how-is-it-improving-preimplantation-genetics
#5
Rebecca L Gould, Darren K Griffin
Preimplantation genetic diagnosis and screening (PGD/PGS) has been applied clinically for >25 years however inherent drawbacks include the necessity to tailor each case to the trait in question, and that technology to detect monogenic and chromosomal disorders respectively is fundamentally different. Areas covered: The area of preimplantation genetics has evolved over the last 25 years, adapting to changes in technology and the need for more efficient, streamlined diagnoses. Karyomapping allows the determination of inheritance from the (grand)parental haplobocks through assembly of inherited chromosomal segments...
May 15, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28460550/evaluating-the-use-of-pcr-for-diagnosing-invasive-aspergillosis
#6
Dieter Buchheidt, Mark Reinwald, Wolf-Karsten Hofmann, Tobias Boch, Birgit Spiess
Aspergillus species, primarily Aspergillus fumigatus, are still the most emerging fungal pathogens. Within recent years, novel molecular methods have been developed to improve the diagnosis of life-threatening invasive aspergillosis in high risk patients. Especially patients with malignant hematological diseases undergoing intensive chemotherapy are at risk and mortality rates are exceptionally high, in part due to difficulties and delays in establishing a microbiologic diagnosis. Early diagnosis and treatment are crucial for an adequate therapeutical management, but, however, are hardly achieved in the clinical setting because most of the current conventional diagnostic tools either lack specificity or acceptable sensitivity at the critical early phase of the infection...
May 10, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28468570/evaluation-of-cobas-ampliprep-cobas-taqman-cmv-test-for-use-in-hematopoietic-stem-cell-transplant-recipients
#7
Poornima Ramanan, Raymund R Razonable
Cytomegalovirus (CMV) is a common opportunistic infection that contributes to poor outcomes in hematopoietic stem cell transplant (HSCT) recipients. Prevention of CMV end-organ disease in allogeneic HSCT recipients is commonly achieved by preemptive antiviral therapy of asymptomatic CMV reactivation that is detected by serial nucleic acid testing (NAT). However, there was no standardized CMV NAT until the development of the World Health Organization (WHO) International Standard. Areas covered: This article provides a comprehensive review on COBAS AmpliPrep/TaqMan (CAP/CTM) CMV assay (Roche) and emphasizes the limitations in the clinical use of CMV NAT in HSCT recipients...
May 4, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28443360/overview-of-procalcitonin-assays-and-procalcitonin-guided-protocols-for-the-management-of-patients-with-infections-and-sepsis
#8
Philipp Schuetz, Celine Bretscher, Luca Bernasconi, Beat Mueller
Procalcitonin is a surrogate infection blood marker whose levels help estimate the likelihood of bacterial infections and correlate with their resolution. Recent trials have revealed the benefits of inclusion of procalcitonin in antibiotic stewardship protocols for initiation and discontinuation of antimicrobial therapy. Areas covered: Procalcitonin-guided antibiotic stewardship protocols have shown appreciable reductions in antibiotic use and duration of therapy in respiratory infections, sepsis, and other infections, with positive effects on clinical outcomes...
May 3, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28423960/the-role-of-molecular-diagnostic-testing-in-the-management-of-thyroid-nodules
#9
Maureen D Moore, Suraj Panjwani, Katherine D Gray, Brendan M Finnerty, Rasa Zarnegar, Thomas J Fahey
Fine needle aspiration (FNA) with cytologic examination remains the standard of care for investigation of thyroid nodules. However, as many as 30% of FNA samples are cytologically indeterminate for malignancy, which confounds clinical management. To reduce the burden of repeat diagnostic testing and unnecessary surgery, there has been extensive investigation into molecular markers that can be detected on FNA specimens to more accurately stratify a patient's risk of malignancy. Areas covered: In this review, the authors discuss recent evidence and progress in molecular markers used in the diagnosis of thyroid cancer highlighting somatic gene alterations, molecular technologies and microRNA analysis...
April 28, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28425774/profile-of-the-triplex-assay-for-detection-of-chlamydia-gonorrhea-and-trichomonas-using-the-bd-max%C3%A2-system
#10
Barbara Van Der Pol
Chlamydia, gonorrhea and trichomonas are the most common curable STI. improved access to testing could reduce infection rates and prevent sequelae. nucleic acid amplification tests are the recommend class of diagnostic assay for these infections which are often asymptomatic. Areas covered: A description of the BD MAX™ System (MAX) and the BD MAX CT/GC/TV assay is provided along with data from a large US clinical trial. The capacity of the system for other tests and for lab developed assays is also described...
April 27, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28415895/the-value-of-liquid-biopsy-in-diagnosis-and-monitoring-of-diffuse-large-b-cell-lymphoma-recent-developments-and-future-potential
#11
Vincent Camus, Fabrice Jardin, Herve Tilly
Diffuse large B-cell lymphomas (DLBCL) represent a heterogeneous subset of non-Hodgkin lymphomas (NHL) that demonstrate many molecular alterations and somatic mutations, all of which are targets for the recent development of biomarkers that use various molecular biological techniques. These non-invasive emerging biomarkers will be used in the next few years to better monitor the response to immunochemotherapeutic treatments with the aim of completely eradicating the disease in order to cure it. Areas covered: In this review, the authors conducted a literature search to identify and summarize the major advances in liquid biopsy techniques for DLBCL that are useful for diagnosis and monitoring minimal residual disease (MRD)...
April 27, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28402162/barriers-preventing-the-adoption-of-comprehensive-cancer-genomic-profiling-in-the-clinic
#12
Cara M Statz, Sara E Patterson, Susan M Mockus
Comprehensive cancer genomic profiling provides the opportunity to expose the various molecular aberrations potentially driving tumor progression. Consequently, the identity of these genetic drivers can be utilized to match a patient to the most appropriate targeted therapy, thereby increasing the probability of improved clinical outcome. Despite its capability of informing patient care, the adoption of comprehensive cancer genomic profiling in the clinic has not been widespread. The barriers surrounding its universal acceptance are attributed to both physician and patient perspectives...
April 18, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28395562/pcr-tests-for-uterine-cervical-secretion-are-promising-noninvasive-methods-for-predicting-congenital-cytomegalovirus-infection
#13
Kenji Tanimura, Yasuhiko Ebina, Hideto Yamada
No abstract text is available yet for this article.
April 13, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28343420/portable-devices-and-mobile-instruments-for-infectious-diseases-point-of-care-testing
#14
Luc Bissonnette, Michel G Bergeron
Rapidity, simplicity, and portability are highly desirable characteristics of tests and devices designed for performing diagnostics at the point of care (POC), either near patients managed in healthcare facilities or to offer bioanalytical alternatives in external settings. By reducing the turnaround time of the diagnostic cycle, POC diagnostics can reduce the dissemination, morbidity, and mortality of infectious diseases and provide tools to control the global threat of antimicrobial resistance. Areas covered: A literature search of PubMed and Google Scholar, and extensive mining of specialized publications, Internet resources, and manufacturers' websites have been used to organize and write this overview of the challenges and requirements associated with the development of portable sample-to-answer diagnostics, and showcase relevant examples of handheld devices, portable instruments, and less mobile systems which may or could be operated at POC...
April 11, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28337931/utilizing-nutritional-genomics-to-tailor-diets-for-the-prevention-of-cardiovascular-disease-a-guide-for-upcoming-studies-and-implementations
#15
Dolores Corella, Oscar Coltell, George Mattingley, José V Sorlí, Jose M Ordovas
Personalized diets based on an individual's genome to optimize the success of dietary intervention and reduce genetic cardiovascular disease (CVD) risk, is one of the challenges most frequently discussed in the scientific community. Areas covered: The authors gathered literature-based evidence on nutritional genomics and CVD phenotypes, our own results and research experience to provide a critical overview of the current situation of using nutritional genomics to tailor diets for CVD prevention and to propose guidelines for future studies and implementations...
April 3, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28325089/the-need-to-develop-a-patient-centered-precision-medicine-model-for-adults-with-chronic-disability
#16
Susan M Wolf, Bharat Thyagarajan, Brent L Fogel
No abstract text is available yet for this article.
April 3, 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
#17
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 esophagus 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 30, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28317395/clinical-metabolomics-a-pivotal-tool-for-companion-diagnostic-development-and-precision-medicine
#18
Vladimir Tolstikov, Viatcheslav R Akmaev, Rangaprasad Sarangarajan, Niven R Narain, Michael A Kiebish
No abstract text is available yet for this article.
March 29, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28317407/using-molecular-diagnostic-testing-to-personalize-the-treatment-of-patients-with-gastrointestinal-stromal-tumors
#19
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 27, 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
#20
Michael Nagler, Adam 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 16, 2017: Expert Review of Molecular Diagnostics
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