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Expert Review of Molecular Diagnostics

Giuseppe Pelosi, Fabrizio Bianchi, Paul Hofman, Linda Pattini, Philipp Ströbel, Fiorella Calabrese, Salma Naheed, Chloe Holden, Judith Cave, Hanibal Bohnenberger, Helen Dinter, Sergio Harari, Adriana Albini, Angelica Sonzogni, Mauro Papotti, Marco Volante, Christian H Ottensmeier
Neuroendocrine tumors of the lung (Lung-NETs) make up a heterogenous family of neoplasms showing neuroendocrine differentiation and encompasses carcinoids and neuroendocrine carcinomas. On molecular grounds, they are considered two completely distinct and separate tumor groups with no overlap of molecular alterations nor common developmental mechanisms. Areas covered: Two perspectives were evaluated based on an extensive review and rethinking of literature: (i) the current classification as an instrument to obtaining clinical and molecular insights into the context of Lung-NETs; and (ii) an alternative and innovative interpretation of these tumors, proposing a tripartite separation into early aggressive primary high-grade neuroendocrine tumors (HGNET), differentiating or secondary HGNET, and indolent NET...
March 22, 2019: Expert Review of Molecular Diagnostics
Linda Hadjadj, Sophie Alexandra Baron, Seydina M Diene, Jean-Marc Rolain
Antibiotic resistance (AR) is a worldwide concern and the description of AR have been discovered mainly because of their implications in human medicine. Since the recent burden of whole-genome sequencing of microorganisms, the number of new AR genes (ARGs) have dramatically increased over the last decade. Areas covered: In this review, we will describe the different methods that could be used to characterize new ARGs using classic or innovative methods. First, we will focus on the biochemical methods, then we will develop on molecular methods, next-generation sequencing and bioinformatics approaches...
March 21, 2019: Expert Review of Molecular Diagnostics
Batia Kaplan, Esther Ganelin-Cohen, Sizilia Golderman, Avi Livneh
No abstract text is available yet for this article.
February 22, 2019: Expert Review of Molecular Diagnostics
Luciana De Luca, Ilaria Laurenzana, Stefania Trino, Daniela Lamorte, Antonella Caivano, Pellegrino Musto
Multiple myeloma (MM) is characterized by a clonal proliferation of neoplastic plasma cells (PCs) in bone marrow (BM) and the interplay between MM PCs and the BM microenvironment, which plays a relevant role in its pathogenesis. In this important cross-talk, extracellular vesicles (EVs) are active. EVs, including small and medium/large EVs, are lipid bi-layer particles released in circulation by normal and neoplastic cells. A selected cargo of lipids, proteins, and nucleic acids is loaded into EVs, and delivered locally and to distant sites, thus influencing the physiology of recipient cells...
February 20, 2019: Expert Review of Molecular Diagnostics
Arthur Daniel Rocha Alves, Rita de Cassia Nasser Cubel Garcia, Oswaldo Gonçalves Cruz, Marcelo Alves Pinto, Luciane Almeida Amado Leon
BACKGROUND: Human Parvovirus B19 (B19V) is a common pathogen worldwide. After primary infection, B19V-DNA may permanently persist in non-erythroid tissues, including the liver of patients with acute liver failure (ALF). OBJECTIVE: To validate a real-time PCR (qPCR) for the quantification of B19V-DNA, in order to establish a differential diagnosis for B19V infection in ALF patients. METHODS: The qPCR techniques were based on Sybr Green® and TaqMan® methodologies...
February 18, 2019: Expert Review of Molecular Diagnostics
Vivian Weiwen Xue, Cesar SzeChuen Wong, William Chi Shing Cho
No abstract text is available yet for this article.
February 13, 2019: Expert Review of Molecular Diagnostics
Yakup Bozkaya, Ozan Yazıcı
BACKGROUND: The prognostic significance of serum gamma-glutamyl transferase (GGT) level at diagnosis in patients with metastatic non-small lung cancer (NSCLC) is not clear. We aimed to assess the relationship between serum GGT level and overall survival (OS) and progression-free survival (PFS) in this patient population. METHODS: Data of patients with metastatic NSCLC who were admitted to the medical oncology clinic of our hospital during April 2013-December 2017 were retrospectively analyzed...
February 6, 2019: Expert Review of Molecular Diagnostics
Thomas J Walsh, Matthew W McCarthy
Matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS) has emerged as a powerful new tool to identify human fungal pathogens and has radically altered the diagnostic mycology workflow at many medical centers around the world. Areas Covered: While most experience is with the identification of yeasts, including species of Candida and Cryptococcus, there is ongoing work investigating the role of MALDI-TOF MS to detect molds, including species of Aspergillus, Fusarium, Scedosporium, and Mucormyctes as well as thermally dimorphic fungi...
January 25, 2019: Expert Review of Molecular Diagnostics
Rikke S Møller, Trine B Hammer, Guido Rubboli, Johannes R Lemke, Katrine M Johannesen
Within the last decade, next generation sequencing (NGS) has resulted in remarkable advances in the field of epilepsy genetics. NGS has become a routine part of the diagnostic workup in many countries. A workup that has led to higher diagnostic yields and insights into the underlying disease mechanisms. Areas covered: In this review, we report on the recent contributions of NGS testing to the diagnosis and the understanding of pathophysiological mechanisms, phenotypic variability, and genetic heterogeneity of different epilepsies including developmental and/or epileptic encephalopathies, focal and generalized epilepsies...
January 19, 2019: Expert Review of Molecular Diagnostics
Vedran Stefanovic
-Introduction: Prenatal cell-free DNA screening for common fetal aneuploidies has rapidly changed the paradigm of prenatal care. Despite its advantages compared to conventional screening methods, its unexpectedly rapid implementation in clinical practice has generated several ethical and medical issues and misconceptions. Aggressive commercial marketing of cell-free DNA screening and media dissemination of misleading information have added confusion. -Areas covered: This review provides an extensive update and will focus on the importance of pre-and post-test counseling for prenatal cell-free DNA screening not previously discussed extensively in the available literature...
January 18, 2019: Expert Review of Molecular Diagnostics
Takashi Matsushita, Kazuhiko Takehara
No abstract text is available yet for this article.
January 18, 2019: Expert Review of Molecular Diagnostics
Karanth Padyana Anupama, Anirban Chakraborty, Iddya Karunasagar, Indrani Karunasagar, Biswajit Maiti
A number of DNA-based diagnostic tools have been developed for the detection of Vibrio parahaemolyticus in seafood. However, the loop-mediated isothermal amplification (LAMP) has distinct advantages with regards to its simplicity, speed and the ease of performing without any need for sophisticated equipment. Over the last decade, LAMP has emerged as a potential tool for the detection of V. parahaemolyticus. Area covered: The literature search was restricted to LAMP assay and its variants for the detection of V...
January 18, 2019: Expert Review of Molecular Diagnostics
Claire Franczak, Pierre Filhine-Tresarrieu, Pauline Gilson, Jean-Louis Merlin, Lewis Au, Alexandre Harlé
Blood draw or collection of other body fluids, known as 'liquid biopsies' are generally less invasive procedures than tumor biopsies. Cell-free tumor DNA (ctDNA) is widely evaluated in cancer for early detection, diagnosis, prognosis, therapy monitoring or determination of minimal residual disease. In body fluid samples, ctDNA can represent a small fraction of total cell-free DNA (cfDNA), requiring highly sensitive assays. Areas covered: The first part of this review is dedicated to critical preanalytical points necessary to obtain suitable samples for cfDNA analysis...
January 16, 2019: Expert Review of Molecular Diagnostics
Takeharu Kanazawa, Kiyoshi Misawa, Kazuya Shinmura, Yuki Misawa, Gen Kusaka, Mikiko Maruta, Toru Sasaki, Yusuke Watanabe, Thomas E Carey
While remarkable progress has been made in standard treatments for head and neck squamous cell carcinomas (HNSCCs), the long-term survival remains at an unsatisfactory 40-50%. To improve the survival rate, biomarkers for optimal treatment selection and prognostic prediction, as well as novel, low-toxicity treatment strategies, are required. Galanin receptor (GALR) 1 and GALR2 are well-studied tumor suppressors in HNSCCs. Compared with other clinicopathological factors, the epigenetic variants of GALRs have been found to be the most powerful markers to predict the prognosis of HNSCC patients...
January 14, 2019: Expert Review of Molecular Diagnostics
Grégory Dubourg, Didier Raoult, Florence Fenollar
Bloodstream infections (BSIs) remain a major public health burden worldwide, particularly in high-income countries as they are associated with a significant mortality rate. As early administration of appropriate antimicrobial therapy is a major prognostic factor, there remain unmet needs for shortening BSI diagnosis. Current blood cultures (BC) processing to identify pathogens involved in BSI is not compatible with such delays, although it remains the gold standard. Areas covered: Herein, we review and discuss emerging or ongoing assessed methodologies dedicated to shorten the identification of microorganisms involved in BSI and published since 2015...
January 14, 2019: Expert Review of Molecular Diagnostics
Ian Baine, Pei Hui
Among various human tissue identity testing platforms, short tandem repeat (STR) genotyping has emerged as the most powerful and cost effective method. Beyond forensic applications, tissue identity testing has become increasingly important in modern medical practice, in areas such as diagnostic pathology. Areas covered: A brief overview of various molecular/genetic techniques for identity testing is provided. This includes restriction fragment length polymorphism, single nucleotide polymorphism array and STR genotyping by multiplex PCR...
January 14, 2019: Expert Review of Molecular Diagnostics
Diana Gulei, Lajos Raduly, Ioana Berindan-Neagoe, George A Calin
No abstract text is available yet for this article.
January 11, 2019: Expert Review of Molecular Diagnostics
D M Verboom, M E Koster-Brouwer, Mrj Varkila, Mjm Bonten, O L Cremer
Sepsis is a severe and frequently occurring clinical syndrome, caused by the inflammatory response to infections. Recent studies on the human transcriptome during sepsis have yielded several gene-expression assays that might assist physicians during clinical assessment of patients suspected of sepsis. SeptiCyte™ LAB (Immunexpress, Seattle, WA) is the first gene expression assay that was cleared by the FDA in the United States to distinguish infectious from non-infectious causes of systemic inflammation in critically ill patients...
January 9, 2019: Expert Review of Molecular Diagnostics
Andrew J McKenzie, Holli Dilks, Suzanne F Jones, Howard Burris
No abstract text is available yet for this article.
January 8, 2019: Expert Review of Molecular Diagnostics
Panaiotis Finamore, Simone Scarlata, Raffaele Antonelli Incalzi
The vast majority of respiratory diseases are associated with the production of volatile organic compounds (VOCs), the analysis of which might improve our knowledge about these disorders and their clinical management. The aim of this narrative review is to provide a comprehensive summary of current evidence supporting the application of breath analysis in the field of respiratory diseases, as well as suggesting potential applications available in the near future. Areas covered: A computerized literature search was performed to identify relevant articles reporting original data on the clinical use of breath analysis in respiratory diseases...
January 2019: Expert Review of Molecular Diagnostics
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