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Expert Review of Molecular Diagnostics

Konstantina Panoutsopoulou, Margaritis Avgeris, Andreas Scorilas
The elucidation of tumor molecular hallmarks and the identification of novel molecular markers are of first translational priority in breast and ovarian cancer research, aiming to support personalized disease treatment and monitoring decisions. Recent high-throughput studies have revealed that ~80% of the genome is transcribed into RNAs without protein-coding potential, namely non-coding RNAs (ncRNAs), challenging the concept of "junk DNA". Undoubtedly, microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) represent the best-studied family classes, emerging as the most powerful gene-expression regulators at epigenetic, transcriptional and post-transcriptional levels...
October 19, 2018: Expert Review of Molecular Diagnostics
Barbara Van Der Pol
No abstract text is available yet for this article.
October 17, 2018: Expert Review of Molecular Diagnostics
Claudia Maria Hattinger, Maria Pia Patrizio, Elisa Tavanti, Silvia Luppi, Federica Magagnoli, Piero Picci, Massimo Serra
Genetic characterization of osteosarcoma has evolved during the last decade thanks to the integrated application of conventional and new candidate-driven and genome-wide technologies. Areas covered: This review provides an overview of the state of art in genetic testing applied to osteosarcoma, with particular regard to novel candidate genetic biomarkers that can be analyzed in tumor tissue and blood samples, which might be used to predict toxicity and prognosis, detect disease relapse, and improve patients' selection criteria for tailoring treatment...
October 16, 2018: Expert Review of Molecular Diagnostics
Andrea Regner, Lindolfo da Silva Meirelles, Nilo Ikuta, Andre Cecchini, Daniel Simon
Acute brain injuries represent major causes of morbidity and mortality worldwide. Nevertheless, therapeutic options are centered mainly on supportive care, and accurate prognosis prediction following traumatic brain injury (TBI) or stroke remains a challenge in clinical settings. Areas covered: Circulating DNA and RNA have shown potential as predictive molecules in acute brain injuries. In particular, plasma cell-free DNA (cfDNA) levels have been correlated to severity, mortality and outcome after TBI and stroke...
October 11, 2018: Expert Review of Molecular Diagnostics
Vijay K Singh, Madison Simas, Harvey Pollard
No abstract text is available yet for this article.
October 5, 2018: Expert Review of Molecular Diagnostics
Ana Carolina Brusius-Facchin, Diana Rojas Malaga, Sandra Leistner-Segal, Roberto Giugliani
The mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders with high phenotypic and genotypic heterogeneity, making precise diagnosis challenging. Although enzyme activity assay is considered the gold standard for the diagnosis of these disorders, molecular testing can greatly refine this task. New methods for rapid detection of variants are useful to reduce the 'diagnostic odyssey' faced by patients and their family, to lead to appropriate genetic counseling and to select the most appropriate therapy for each case...
October 2018: Expert Review of Molecular Diagnostics
Jayne Y Hehir-Kwa, Bastiaan B J Tops, Patrick Kemmeren
The role of copy number variants (CNVs) in disease is now well established. In parallel NGS technologies, such as long-read technologies, there is continual development and data analysis methods continue to be refined. Clinical exome sequencing data is now a reality for many diagnostic laboratories in both congenital genetics and oncology. This provides the ability to detect and report both SNVs and structural variants, including CNVs, using a single assay for a wide range of patient cohorts. Areas covered: Currently, whole-genome sequencing is mainly restricted to research applications and clinical utility studies...
October 2018: Expert Review of Molecular Diagnostics
Elizabeth J Franzmann, Michael J Donovan
Head and neck cancer remains a challenging disease that is increasing in incidence with the majority of patients diagnosed at an advanced stage where 5-year survival is approximately 50%. Current approaches including oral-brush biopsies, fluorescence-based technologies,  and salivary molecular profiling have demonstrated some success; however, cost, ease of use, and accuracy remain limiting factors. Areas covered: This is a profile of a novel, easy to use oral rinse point-of-care (POC) test to aid in the diagnosis of oral and oropharyngeal cancer...
October 2018: Expert Review of Molecular Diagnostics
Sanjeet S Dadwal, Dimitrios P Kontoyiannis
Fungal infection burden related to Mucorales has been on the rise with significant associated morbidity and mortality. The major obstacle in the management has been lack of a non-invasive rapid and a reliable diagnostic test. Developing a culture-independent biomarker for the early diagnosis of mucormycosis is a major unmet need in modern mycology. Several approaches have been developed, such as immunohistochemistry (IHC) that can confirm the histopathologic diagnosis of the invasive mold infection, polymerase chain reaction (PCR) on formalin-fixed paraffin-embedded (FFPE) or fresh tissue, body fluids such as bronchoalveolar fluid (BAL), and detection directly from serum/blood...
October 2018: Expert Review of Molecular Diagnostics
Ingeborg Tinhofer, Stephanie Staudte
Assessment of circulating tumor cells (CTCs) in peripheral blood from solid cancer patients including head and neck squamous cell carcinoma (HNSCC) has proven useful for detection of subclinical disease that otherwise remains invisible for current staging techniques. Based on large cohort studies, diagnostic tests for enumeration of CTCs have been developed, which can be used for tumor staging, prognosis, treatment monitoring, and post-treatment surveillance. Areas covered: Here, we briefly summarize the history of CTC discovery...
October 2018: Expert Review of Molecular Diagnostics
Felix Behling, Jens Schittenhelm
No abstract text is available yet for this article.
October 2018: Expert Review of Molecular Diagnostics
Hu Zhang, Zhen Zeng, Arjudeb Mukherjee, Bo Shen
Traditional diagnosis and classification of inflammatory bowel diseases (IBDs) have been based on clinical evaluation, laboratory testing, endoscopy, imaging, and histological examinations. With the advancement of medical technology, an increasing number of molecular surrogates are playing a key role in diagnosis, differential diagnosis, assessment of disease activity, prediction of clinical course, and therapeutic response of IBD. Areas covered: The authors review roles of both existing and emerging surrogates including genetic, serological, histologic, and fecal markers in diagnosis and classification of IBD...
October 2018: Expert Review of Molecular Diagnostics
Corey Timmerman, Luis R Taveras, Sergio Huerta
The standard of care for locally advanced rectal cancer includes neoadjuvant chemoradiation with subsequent total mesorectal excision. This approach has shown various degrees of response to neoadjuvant chemoradiation (ranging from complete response to further tumor growth), which have substantial prognostic and therapeutic implications. A total regression of the tumor is a predictor of superior oncologic outcomes compared with partial responders and non-responders. Further, this concept has opened the possibility of nonoperative strategies for complete responders and explains the widespread research interest in finding clinical, radiographic, pathologic, and biochemical parameters that allow for identification of these patients...
October 2018: Expert Review of Molecular Diagnostics
Benjamin J DiPardo, Paul Winograd, Colin M Court, James S Tomlinson
Pancreatic cancer (PC) is a highly lethal disease, in part because of early metastasis, late diagnosis, and limited treatment options. Circulating tumor cells (CTCs) are cancer cells that have achieved the metastatic step of intravasation, and are thus a unique source of biomarkers with potential applications in the staging, prognostication, and treatment of PC. Areas covered: This review describes the use of CTCs in PC, including isolation methods, the significance of CTC enumeration, and studies examining phenotypic and molecular characteristics of CTCs...
September 2018: Expert Review of Molecular Diagnostics
Mitchell R McGill, Hartmut Jaeschke
The difficulty of understanding and diagnosing drug-induced liver injury (DILI) has led to proliferation of serum and genetic biomarkers. Many applications of these biomarkers have been proposed, including investigation of mechanisms, prediction of DILI during early trials or before initiation of therapy in patients, and diagnosis of DILI during therapy. Areas covered: We review the definition and categories of DILI, describe recent developments in DILI biomarker development, and provide guidance for future directions in DILI biomarker research...
September 2018: Expert Review of Molecular Diagnostics
Giuseppe Gaipa, Chiara Buracchi, A Biondi
Flow cytometric quantification of minimal residual disease (MRD) in acute leukemia (AL) represents an indispensable tool to guide modern therapeutic protocols toward a precision medicine approach, being a powerful predictor of the overall response to treatment. This review covers the most challenging aspects and developments of this method, aiming at supporting further its implementation in clinical practices. Area covered: Flow cytometric MRD is based on the discrimination of leukemia cells from their physiological counterparts by the recognition of the leukemia-associated immunophenotypes...
September 2018: Expert Review of Molecular Diagnostics
Pedro V Baptista
An update on the uses and applications of the non-cross-linking (NCL) hybridization assay based on the spectral modulation of gold nanoparticles (AuNPs) are presented, emphasizing DNA and RNA detection. Areas covered: Nanotechnology is strongly impacting the way we address diagnostics and therapeutics. In fact, nanoscale devices and particles have been used in a variety of platforms for improved biosensing and, more interestingly, for molecular diagnostics. AuNPs have been used in a great diversity of DNA and RNA detection strategies that are based on their nanoscale properties...
September 2018: Expert Review of Molecular Diagnostics
Natasha Gous, Jeff Takle, Aaron Oppenheimer, Alan Schooley
In pursuit of the 90-90-90 goals, emphasis has been placed on accelerating centralized-laboratory HIV viral load testing of a population that is largely rural and decentralized. Successful outcome requires effective specimen transport, laboratory testing, and results delivery. This paper focuses on the methods currently employed for results delivery. New innovations in this area are yielding mixed results; we analyze different approaches and estimate the impact of each on achieving the third '90.' Areas covered: Strategies employing electronic or mobile health platforms, such as online portals, SMS, and SMS printers are showing potential to deliver results in significantly improved turnaround times but are not without challenges...
September 2018: Expert Review of Molecular Diagnostics
Giorgio Gallinella
Parvovirus B19 (B19V), a single-stranded DNA virus in the family Parvoviridae, is a human pathogenic virus, characterized by a selective but not exclusive tropism for erythroid progenitor cells. Widely diffuse, it is responsible for an ample range of clinical manifestations, whose characteristics and outcomes depend on the interplay between the viral properties and the physiological and immune status of the infected individuals. The complexity of virus-host relationship and the diversity of the clinical course of infection pose a diagnostic challenge that may require non-trivial solutions...
September 2018: Expert Review of Molecular Diagnostics
Sreelakshmi Kotha, ShuetFong Neong, Keyur Patel
Chronic liver disease due to viral hepatitis continues to be a major global health concern. Timely diagnosis and treatment will prevent cirrhosis, risk of hepatocellular carcinoma (HCC), and requirement for liver transplantation. Numerous serum biomarkers are available for viral hepatitis that are helpful in diagnosis, measuring severity, progression of disease, evaluating the best therapeutic options, and monitoring antiviral treatment response. Determining the clinical use of available diagnostic tests can be challenging for the health care provider...
August 2018: Expert Review of Molecular Diagnostics
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