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Expert Review of Molecular Diagnostics

Alexander L Greninger
Diagnostic metagenomics and its associated trail of publications are spreading across the world. Multiple clinical labs in the United States, Europe, and Asia have gone to considerable lengths to optimize and validate a range of protocols for agnostically detecting viral, bacterial, fungal, and eukaryotic parasite nucleic acid across a range of patient specimens to aid in diagnosis for particularly recalcitrant cases. Others see a role for diagnostic metagenomics as a front-line diagnostic to replace other microbiological testing...
June 14, 2018: Expert Review of Molecular Diagnostics
Matthew W McCarthy, Thomas J Walsh
Clinical trials for invasive pulmonary aspergillosis, a potentially lethal mold infection, are complex investigations that require protracted time and extensive resources, delaying the development of new antifungal agents for this important disease. Areas Covered: In this paper, the authors examine a novel approach to study invasive pulmonary aspergillosis in humans, with a focus on the potentials and pitfalls of surrogate endpoints such as galactomannan antigenemia to evaluate therapeutic response to novel compounds...
June 13, 2018: Expert Review of Molecular Diagnostics
Catherine Hogan, Chelsea Caya, Jesse Papenburg
Respiratory syncytial virus (RSV) is a leading cause of acute respiratory infections. The clinical manifestations of RSV are indistinguishable from other etiologies of acute respiratory infection. Therefore, accurate and timely laboratory testing is needed to impact clinical management. There are now multiple rapid, low-complexity, commercially available assays for RSV. These tests present significant performance advantages compared to older antigen detection tests. Accurate and rapid diagnosis of RSV has the potential for enabling timely cessation of unnecessary antibiotics and implementation of good infection control practices...
June 11, 2018: Expert Review of Molecular Diagnostics
John D Diaz-Decaro, Nicole Green, Hilary Godwin
Clinical management and identification of respiratory diseases has become more rapid and increasingly specific due to widespread use of PCR multiplex technologies. Although significantly improving clinical diagnosis, multiplexed PCR assays could have a greater impact on local and global disease surveillance. The authors wish to propose methods of evaluating respiratory multiplex assays to maximize diagnostic yields specifically for surveillance efforts. Areas Covered: The authors review multiplexed assays and critically assess what barriers have limited these assays for disease surveillance and how these barriers might be addressed...
June 10, 2018: Expert Review of Molecular Diagnostics
Sau W Cheung, Weimin Bi
In 2004, the implementation of array comparative genomic hybridization (array comparative genome hybridization [CGH]) into clinical practice marked a new milestone for genetic diagnosis. Array CGH and single-nucleotide polymorphism (SNP) arrays enable genome-wide detection of copy number changes in a high resolution, and therefore microarray has been recognized as the first-tier test for patients with intellectual disability or multiple congenital anomalies, and has also been applied prenatally for detection of clinically relevant copy number variations in the fetus...
May 31, 2018: Expert Review of Molecular Diagnostics
Ángeles López-López, Ángeles López-Gonzálvez, Tomás Clive-Baker, Coral Barbas
Introduction Studying changes in the whole set of small molecules, final products of biochemical reactions in living systems or metabolites, is extremely appealing because they represent the best approach to identifying what occurs in an organism when samples are collected. However, their usefulness as potential biomarkers is limited by discoveries obtained in small groups without proper validation or even confirmation of the chemical structure. Areas Covered During the past five years, more than 900 papers have been published on metabolomics for biomarker discovery, but the numbers are much lower when some criteria of validation are applied...
May 29, 2018: Expert Review of Molecular Diagnostics
Danay Mavreli, Nikolas Papantoniou, Aggeliki Kolialexi
No abstract text is available yet for this article.
May 27, 2018: Expert Review of Molecular Diagnostics
Stephen Poole, Stephen P Kidd, Kordo Saeed
Introduction The antimicrobial aspect of management of patients with blood stream infections (BSI) and sepsis is time critical. In an era of increasing antimicrobial resistance, rapid detection and identification of bacteria with antimicrobial susceptibility is crucial to direct therapy early in the course of illness. Molecular techniques offer a potential solution to this. Areas covered In the present review the authors have discussed a number of novel solutions utilising a variety of molecular techniques for pathogen detection, identification and antimicrobial susceptibility...
May 23, 2018: Expert Review of Molecular Diagnostics
Delia Yubero, Raquel Montero, Carlos Santos-Ocaña, Leonardo Salviati, Placido Navas, Rafael Artuch
Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing number of genetic disorders. While primary CoQ deficiency syndromes are rare diseases, secondary deficiencies have been related to both genetic and environmental conditions, which are the main causes of biochemical CoQ deficiency. The diagnosis is the essential first step for planning future treatment strategies, as the potential treatability of CoQ deficiency is the most critical issue for the patients. Areas covered: While the quickest and most effective tool to define a CoQ-deficient status is its biochemical determination in biological fluids or tissues, this quantification does not provide a definite diagnosis of a CoQ-deficient status nor insight about the genetic etiology of the disease...
May 21, 2018: Expert Review of Molecular Diagnostics
Peter A Kavsak, James E Andruchow, Andrew D McRae, Andrew Worster
The Elecsys Troponin T Gen 5 STAT test (distributed in the United States (US) by Roche Diagnostics, Indianapolis, IN) is the first high-sensitivity cardiac troponin test approved for use by the FDA in the US (2017). Areas covered: The test offers clinicians the opportunity for more rapid decision-making for diagnosing myocardial infarction (MI) in the emergency department (ED). The Troponin T Gen 5 STAT test (labeled as TNT-G5ST on the reagent pack) is similar to the Troponin T hs STAT (TNT-HSST) and Troponin T hs (TNT-HS) tests that have been available outside the US since 2009...
May 12, 2018: Expert Review of Molecular Diagnostics
Shuang Yin, Zhanfang Ma
Hydrogel-based electrochemical immunoassays exhibit a large surface-to-volume ratio, excellent biocompatibility, unique stimuli-responsive behavior, high permeability and hydrophilicity and, thus, have shown great potential in the sensitive and accurate detection of tumor markers. Electrochemical immunosensing techniques for tumor markers based on hydrogels have greatly progressed in recent years. Areas covered: In this review, the authors describe the recent advances of hydrogel-based electrochemical immunosensing interface of tumor markers based on the different functions of hydrogels including conductive, catalytic, redox, stimuli-responsive and antifouling hydrogels...
May 3, 2018: Expert Review of Molecular Diagnostics
Wangxiao Bao, Fangping He, Lihua Yu, Jian Gao, Fanxia Meng, Yahui Ding, Hai Zou, Benyan Luo
BACKGROUND: Patients who awake from severely traumatic brain injury (TBI) may remain unconscious for many years. Although behavioral assessment and functional imaging are currently used as diagnostic tools, the molecular basis underlying chronic condition has yet to be explored. METHOD: Plasma samples were obtained at 3 time points (1, 3 and 6 months) from 18 patients with chronic disorders of consciousness who survived severe TBI, and 6 healthy volunteers. A coupled isobaric tag for relative and absolute quantitation (iTRAQ)-based proteomics approach was used to screen differentially expressed proteins (DEPs) between patients and controls...
May 2, 2018: Expert Review of Molecular Diagnostics
E Lai, A Pretta, V Impera, S Mariani, R Giampieri, L Casula, V Pusceddu, P Coni, D Fanni, M Puzzoni, L Demurtas, P Ziranu, G Faa, M Scartozzi
BRAF mutant colorectal cancer (BRAF MT CRC) is a unique category of colorectal tumour with peculiar molecular, pathological and clinical features and poor prognosis; despite recent research, BRAF mutation predictive value and standard treatment of BRAF MT CRC still have to be defined. In this review, we focused on this challenging topic. Areas Covered: The potential use of BRAF mutational status among recent additional prognostic and predictive indicators and current treatment strategy in use in these patients is discussed...
April 30, 2018: Expert Review of Molecular Diagnostics
M Maas, S Walz, V Stühler, S Aufderklamm, S Rausch, J Bedke, A Stenzl, T Todenhöfer
Diagnosis and surveillance of non-muscle invasive bladder cancer (NMIBC) is mainly based on endoscopic bladder evaluation and urine cytology. Several assays for determining additional molecular markers (urine-, tissue- or blood-based) have been developed in recent years but have not been included in clinical guidelines so far. Areas covered: This review gives an update on different molecular markers in the urine and evaluates their role in patients with NMIBC in disease detection and surveillance. Moreover, the potential of recent approaches such as DNA methylation assays, multi-panel RNA gene expression assays and cell-free DNA analysis is assessed...
April 30, 2018: Expert Review of Molecular Diagnostics
Alessandra Romano, Nunziatina Laura Parrinello, Piera La Cava, Daniele Tibullo, Cesarina Giallongo, Giuseppina Camiolo, Fabrizio Puglisi, Marina Parisi, Maria Cristina Pirosa, Enrica Martino, Concetta Conticello, Giuseppe Alberto Palumbo, Francesco Di Raimondo
Objectives Despite improvement in overall response due to the introduction of the first-in-class proteasome inhibitor bortezomib (btz), multiple myeloma (MM) is still an incurable disease due to the immune-suppressive bone marrow (BM) environment. Thus, the authors aimed to identify the role of CD11b+ CD15+ CD14- HLA-DR- granulocytic-like myeloid-derived suppressor cells (PMN-MDSC) in MM patients treated up-front with novel agents. Methods In MM cell lines and primary cells derived by patients affected by MGUS and MM we investigated sensitivity to bortezomib and lenalidomide in presence of Arg-1 and PMN-MDSC...
April 30, 2018: Expert Review of Molecular Diagnostics
Cristina Mora, Valentina Zonca, Marco A Riva, Annamaria Cattaneo
Millions of people worldwide suffer from depression, but despite advances in pharmacological therapies, many patients do not experience symptomatic remission or treatment response, even after treatments with several medications. As such, there is an urgent need to identify biomarkers that can not only predict the treatment response, but also allow a rational selection of optimal therapy for each patient. Areas covered: This review examines the recent findings, coming from different "omic sciences", in human blood-based biomarkers associated with antidepressant treatment response with particular attention on genetic/epigenetic and biochemical biomarkers...
April 27, 2018: Expert Review of Molecular Diagnostics
Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Maievi Fonini, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla
OBJECTIVES: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor predisposition syndromes mostly caused by loss-of-function mutations in the tumor suppressor genes NF1 and NF2, respectively. Genotyping is important for correct diagnosis of these diseases. The authors aimed to characterize NF1 and NF2 variants in patients from Southern Brazil. METHODS: Ninety-three unrelated probands with NF1 and 7 unrelated probands with NF2 features were recruited from an Oncogenetics center in Southern Brazil...
June 2018: Expert Review of Molecular Diagnostics
Malgorzata I Srebniak, Ida Vogel, Diane Van Opstal
No abstract text is available yet for this article.
June 2018: Expert Review of Molecular Diagnostics
Hongmei Wang, Jikui Deng, Yi-Wei Tang
The Alere i Influenza A & B assay incorporates the Nicking Enzyme Amplification Reaction technique on the Alere i instrument to detect and differentiate influenza virus (Flu) A and B nucleic acids in specific specimens. Areas covered: The Alere i Influenza A & B assay was cleared by the US Food and Drug Administration for use with nasal swabs (NS) and nasopharyngeal swabs, either directly or in viral transport medium. Notably, direct use on NS was the first ever CLIA-waived nucleic acid-based test. Previously published evaluations have reported sensitivities and specificities of 55...
May 2018: Expert Review of Molecular Diagnostics
Sara Mariani, Luca Bertero, Vittoria Coppola, Giorgio Saracco, Alberto Arezzo, Paola Francia Di Celle, Jasna Metovic, Caterina Marchiò, Paola Cassoni
BACKGROUND: Technical biases due to PCR artefacts could represent an insidious obstacle for mutational analysis and precision medicine. METHODS: The authors report a retrospective analysis by fast COLD-PCR and sequencing of 31 suboptimal tumor DNA samples obtained from FFPE tissues and liquid biopsies. RESULTS: In FFPE tumor tissues and plasma liquid biopsies of patients with lung and colorectal adenocarcinoma, we observed a significant rate of artefactual KRAS mutations, unveiled by repeated analysis following UDG pretreatment as well as by simple repetition without UDG pretreatment step, thus suggesting a DNA damage different from cytosine deamination...
May 2018: Expert Review of Molecular Diagnostics
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