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Expert Review of Molecular Diagnostics

Hin-Fung Tsang, Lawrence Wing-Chi Chan, Jennifer Chiu-Hung Tong, Heong-Ting Wong, Christopher Koon-Chi Lai, Thomas Chi-Chuen Au, Amanda Kit-Ching Chan, Lawrence Po-Wah Ng, William Chi-Shing Cho, Sze-Chuen Cesar Wong
Acquired immunodeficiency syndrome (AIDS) is a kind of acquired disease that breaks down the immune system. Human immunodeficiency virus (HIV) is the causative agent of AIDS. By the end of 2016, there were 36.7 million people living with HIV worldwide. Early diagnosis can alert infected individuals to risk behaviors in order to control HIV transmission. Infected individuals are also benefited from proper treatment and management upon early diagnosis. Thanks to the public awareness of the disease, the annual increase of new HIV infections has been slowly declining over the past decades...
April 11, 2018: Expert Review of Molecular Diagnostics
Yuan Ji, Yue Si, Gwendolyn A McMillin, Elaine Lyon
Introduction The rapid development and dramatic decrease in cost of sequencing techniques have ushered the implementation of genomic testing in patient care. Next generation DNA sequencing (NGS) techniques have been used increasingly in clinical laboratories to scan the whole or part of the human genome in order to facilitate diagnosis and/or prognostics of genetic disease. Despite many hurdles and debates, pharmacogenomics (PGx) is believed to be an area of genomic medicine where precision medicine could have immediate impact in the near future...
April 10, 2018: Expert Review of Molecular Diagnostics
Nicholas J Wald
No abstract text is available yet for this article.
April 10, 2018: Expert Review of Molecular Diagnostics
Frederik Banch Clausen
Introduction In the fight against hemolytic disease of the fetus and newborn, pregnant RhD negative women are offered antenatal and postnatal anti-D immunoglobulin prophylaxis to prevent the development of antibodies against the fetal D antigen. Antenatal prophylaxis has traditionally been provided to all D negative pregnant women, as the fetal RhD type remains unknown until birth. With noninvasive prenatal testing of cell-free DNA, predicting the fetal RhD type has become highly feasible based on analysis of the fetal RHD gene...
April 4, 2018: Expert Review of Molecular Diagnostics
Hanyu Cao, Di You, Zhu Lan, Hui Ye, Minmin Hou, Mingrong Xi
Ovarian cancer (OC) is one of the leading causes of cancer-related death in women. Accumulating evidence showed an evolving role of HE4 in monitoring the progression and prognosis of OC but without a comprehensive analysis for prognosis and survival data. Areas covered: The present meta-analysis aims to explore the association of HE4 with survival and the clinicopathological features of OC patients. PubMed, Embase, Web of Science and the China National Knowledge Infrastructure (CNKI) were searched for relevant studies regarding the role of both serum and tissue HE4 expression in ovarian cancer...
March 23, 2018: Expert Review of Molecular Diagnostics
Geny Piro, Carmine Carbone, Raffaela Santoro, Giampaolo Tortora, Davide Melisi
Introduction Esophageal and esophago-gastric junction (EGJ) adenocarcinomas remain a major health problem worldwide with a worryingly increasing incidence. Recent trials indicate survivals benefit for preoperative or perioperative chemoradiotherapy compared to surgery alone. Beside standard chemoradiotherapy regimens, new therapeutic approaches with targeted therapies have been proposed for the treatment of resectable disease. However, clinical outcomes remain extremely poor due to drug resistance phenomena...
March 16, 2018: Expert Review of Molecular Diagnostics
Dafina Ilijazi, Mohammad Abufaraj, Melanie R Hassler, Iris E Ertl, David D'Andrea, Shahrokh F Shariat
Bladder cancer (BCa) is the fifth most frequently diagnosed cancer worldwide and is, in fact, the most expensive cancer on a per-patient to treat basis. There is a critical need to implement new tests into clinical practice to improve the quality of clinical care, decrease unnecessary invasive therapies and ultimately save costs. Currently, no molecular or genetic biomarker has been widely integrated into daily clinical practice. However, major milestones have been achieved in our understanding of the molecular alterations in BCa that will provide the basis for integrating molecular and genetic biomarkers into clinical decision making to guide management...
March 15, 2018: Expert Review of Molecular Diagnostics
C Krausz, Francesca Cioppi, Antoni Riera-Escamilla
Male infertility affects about 7% of the general male population, and it is a multifactorial, polygenic pathological condition. Known genetic factors, accounting for about 20-25% of male factor infertility, are present in each etiological category: i) hypothalamic-pituitary axis dysfunction; ii) quantitative and qualitative alterations of spermatogenesis; iii) ductal obstruction/dysfunction. Areas covered: All routinely available genetic tests are described. Indication for testing for chromosomal anomalies and Y chromosome microdeletions is based on sperm count (severe oligozoospermia/azoospermia)...
March 15, 2018: Expert Review of Molecular Diagnostics
Eric Sanchez, Edward J Tanenbaum, Saurabh Patil, Mingjie Li, Camilia M Soof, Aleksandra Vidisheva, Gabriel N Waterman, Tara Hekmati, George Tang, Cathy S Wang, Haiming Chen, James Berenson
B-cell maturation antigen (BCMA) is a cell membrane bound tumor necrosis factor receptor family member that is expressed exclusively on late stage normal and malignant B-cells and plasma cells. Addition of two of its ligands, B-cell activating factor and a proliferation inducting ligand, to normal B-cells cause B-cell proliferation and antibody production. Serum BCMA is elevated among patients with multiple myeloma (MM) and chronic lymphocytic leukemia (CLL), and is a prognostic and monitoring tool for these patients...
March 7, 2018: Expert Review of Molecular Diagnostics
E Upchurch, M Isabelle, Gavin Rhys Lloyd, C Kendall, H Barr
Introduction Cancer is responsible for an extraordinary burden of disease, affecting 90.5 million people worldwide in 2015. Outcomes for these patients are improved when the disease is diagnosed at an early, or even precancerous, stage. Raman spectroscopy is demonstrating results that show its ability to detect the molecular changes that are diagnostic of precancerous and cancerous tissue. This review highlights the new advances occurring in this domain. Areas Covered PubMed searches were undertaken to identify new research in the utilisation of Raman spectroscopy in cancer diagnostics...
February 12, 2018: Expert Review of Molecular Diagnostics
Chiara C Volpi, Ambra V Gualeni, Filippo Pietrantonio, Emanuela Vaccher, Antonino Carbone, Annunziata Gloghini
Bright-field in situ hybridization (ISH) methods detect gene alterations that may improve diagnostic precision and personalized management of cancer patients. Areas covered. This review focuses on some bright-field ISH techniques for detection of gene amplification or viral infection that have already been introduced in tumor pathology, research and diagnostic practice. Other emerging ISH methods, for the detection of translocation, mRNA and microRNA have recently been developed and need both an optimization and analytical validation...
February 12, 2018: Expert Review of Molecular Diagnostics
Andrea Csáki, Ondrej Stranik, Wolfgang Fritzsche
Bioanalytical sensing based on the principle of localized surface plasmon resonance experiences is currently an extremely rapid development. Novel sensors with new kinds of plasmonic transducers and innovative concepts for the signal development as well as read-out principles were identified. This review will give an overview of the development of this field. Areas covered: The focus is primarily on types of transducers by preparation or dimension, factors for optimal sensing concepts and the critical view of the usability of these devices as innovative sensors for bioanalytical applications...
February 12, 2018: Expert Review of Molecular Diagnostics
Molly E Fleece, Suporn Pholwat, Amy J Mathers, Eric R Houpt
Antimicrobial resistance is a growing global public health threat. The complexities of antimicrobial resistance in gram-negative bacteria such as Escherichia coli pose significant diagnostic and therapeutic challenges. Molecular diagnostics are emerging in this field. Areas covered: The authors review the clinical importance of pathogenic E. coli and discuss the mechanisms of resistance to common antibiotics used to treat these infections. We review the literature on antimicrobial susceptibility testing and discuss the current state of phenotypic as well as molecular methodologies...
February 12, 2018: Expert Review of Molecular Diagnostics
Anna Okula Basile, Marylyn DeRiggi Ritchie
For the past decade, the focus of complex disease research has been the genotype. From technological advancements to the development of analysis methods, great progress has been made. However, advances in our definition of the phenotype have remained stagnant. Phenotype characterization has recently emerged as an exciting area of informatics and machine learning. The copious amounts of diverse biomedical data that have been collected may be leveraged with data-driven approaches to elucidate trait-related features and patterns...
February 12, 2018: Expert Review of Molecular Diagnostics
Pradnya D Patil, Mauricio Burotto, Vamsidhar Velcheti
Immune checkpoint pathways are key immune regulatory pathways that play a physiologic role in maintaining immune-homeostasis and are often co-opted by cancer cells to evade the host immune system. Recent developments in cancer immunotherapy, mainly drugs blocking the immune checkpoint pathways, have revolutionized the treatment paradigm for many solid tumors. A wide spectrum of immune-related adverse events (irAEs) have been described with the use of these agents which necessitate treatment with immunosuppression, leading to disruption of therapy and can on occasion be life-threatening...
February 10, 2018: Expert Review of Molecular Diagnostics
Suruchi Mittal, Nicola J Brown, Ingunn Holen
Numerous clinical and pre-clinical studies have provided ample evidence supporting that the tumor microenvironment plays a significant role during breast cancer development, progression and in determining the therapeutic response. Areas covered: This review focuses on the evolving concept of the microenvironment as the critical participant in each step of the multi-stage process of malignant progression. Currently, only a small number of molecules form part of routine molecular diagnostics in breast caner, but microenvironment-derived biomarkers are potential additions to existing predictive and prognostic marker panels...
February 9, 2018: Expert Review of Molecular Diagnostics
Wangxiao Bao, Fangping He, Jian Gao, Fanxia Meng, Hai Zou, Benyan Luo
BACKGROUND: The aim of this manuscript was to explore the molecular basis and identify novel biomarkers for the diagnosis and prognosis of patients with chronic disorder of consciousness. METHODS: A coupled isobaric tag for relative and absolute quantitation-based approach was used to screen differentially expressed proteins (DEPs) between patients with chronic disorder of consciousness and healthy individuals. Candidate proteins were identified and measured. The Coma Recovery Scale-Revised (CRS-R) score was used to quantify the severity, and long-term recovery was assessed by Glasgow Outcome Scale (GOS)...
February 8, 2018: Expert Review of Molecular Diagnostics
Natasha Gous, Debrah I Boeras, Ben Cheng, Jeff Takle, Brad Cunningham, Rosanna W Peeling
Simple, rapid tests that can be used at the point-of-care (POC) can improve access to diagnostic services and overall patient management in resource-limited settings where laboratory infrastructure is limited. Implementation of POC tests places tremendous strain on already fragile health systems as the demand for training, supply management and quality assurance are amplified. Digital health has a major role to play in ensuring effective delivery and management of POC testing services. Area covered: The ability to digitise laboratory and POC platforms, including lateral flow rapid diagnostic test results, can standardize the interpretation of results and allows data to be linked to proficiency testing to ensure testing quality, reducing interpretation and transcription errors...
April 2018: Expert Review of Molecular Diagnostics
Jan Trøst Jørgensen
No abstract text is available yet for this article.
April 2018: Expert Review of Molecular Diagnostics
Benjamin M Tang, Maryam Shojaei, James Branley, Anthony McLean
No abstract text is available yet for this article.
March 2018: Expert Review of Molecular Diagnostics
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