Mutation testing for directing upfront targeted therapy and post-progression combination therapy strategies in lung adenocarcinoma.

abstract：:Acute intermittent porphyria (AIP) is an inherited metabolic disease with an autosomal dominant pattern of inheritance. The disease is caused by a partial deficiency of porphobilinogen deaminase (PBGD) in heme biosynthesis. Since biochemical measurements of patients and their healthy relatives overlap, the diagnosis o...

journal_title：Expert review of molecular diagnostics

authors： Kauppinen R

更新日期：2004-03-01 00:00:00

abstract：INTRODUCTION:Osteoarthritis (OA) is a highly heterogenous disease influenced by different molecular, anatomic, and physiologic imbalances. Some of the bottlenecks for enhanced diagnosis and therapeutic assessment are the lack of validated biomarkers and early diagnosis tools. In this narrative review, we analyze the po...

journal_title：Expert review of molecular diagnostics

authors： Casal-Beiroa P,González P,Blanco FJ,Magalhães J

更新日期：2020-08-01 00:00:00

abstract：:HIV-1 protease has a broad and complex substrate specificity, which hitherto has escaped a simple comprehensive definition. This, and the relatively high mutation rate of the retroviral protease, makes it challenging to design effective protease inhibitors. Several attempts have been made during the last two decades t...

journal_title：Expert review of molecular diagnostics

authors： Rögnvaldsson T,You L,Garwicz D

更新日期：2007-07-01 00:00:00

abstract：:There is great interest in the development of noninvasive methods for imaging angiogenic responses. Strategies for assessing angiogenesis have primarily relied on measuring perfusion-related characteristics, such as total blood flow or microvascular volume, or detecting abnormal vascular permeability. Techniques are n...

journal_title：Expert review of molecular diagnostics

authors： Heppner P,Lindner JR

更新日期：2005-05-01 00:00:00

abstract：:Despite numerous technical hurdles, the realization of true personalized medicine is becoming a progressive reality for the future of patient care. With the development of new techniques and tools to measure the genetic signature of tumors, biomarkers are increasingly being used to detect occult tumors, determine the ...

journal_title：Expert review of molecular diagnostics

authors： Guzzetta AA,Pisanic Ii TR,Sharma P,Yi JM,Stark A,Wang TH,Ahuja N

更新日期：2014-09-01 00:00:00

abstract：:Non-targeted identification of microbes is now possible directly in biological samples, based on whole-genome-NGS (WG-NGS) techniques that allow deep sequencing of nucleic acids, data mining and sorting out of sequences of pathogens without any a priori hypothesis. WG-NGS was first only used as a research tool due to ...

journal_title：Expert review of molecular diagnostics

authors： Lecuit M,Eloit M

更新日期：2015-01-01 00:00:00

abstract：INTRODUCTION: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 di...

journal_title：Expert review of molecular diagnostics

authors： Buchheidt D,Reinwald M,Hofmann WK,Boch T,Spiess B

更新日期：2017-06-01 00:00:00

abstract：:The natural history of high-grade cervical intraepithelial neoplasia (CIN) is largely unpredictable and current histopathological examination is unable to differentiate between lesions that will regress and those that will not. Therefore, most high-grade lesions are currently treated by surgical excision, leading to o...

journal_title：Expert review of molecular diagnostics

authors： Koeneman MM,Kruitwagen RF,Nijman HW,Slangen BF,Van Gorp T,Kruse AJ

更新日期：2015-04-01 00:00:00

abstract：INTRODUCTION:Prostate cancer (PCa) is a common cancer in men, but variable clinical behaviors make its management challenging. Risk stratification is a key issue in disease management. Patient-tailored strategies are strongly advocated to reduce unnecessary treatment while maximizing the oncological outcomes of patient...

journal_title：Expert review of molecular diagnostics

authors： Colicchia M,Morlacco A,Cheville JC,Karnes RJ

更新日期：2017-04-01 00:00:00

abstract：:With the emergence of new viral infections, it is necessary to set up new target-specific assays, based on existing molecular techniques such as real-time PCR, as quickly as possible. Without these diagnostic tools, the geographical spread of new infections, follow-up of the disease outbreak and analysis of the pathog...

journal_title：Expert review of molecular diagnostics

authors： Pas SD,Koopmans MP,Niedrig M

更新日期：2016-01-01 00:00:00

abstract：:Introduction: The landscape of systemic treatment options for lung cancer has rapidly evolved with the emergence of immunomodulatory agents such as neutralizing antibodies targeting the programmed cell death protein 1 (PD-1) and its ligand (PD-L1). Another major breakthrough was the introduction of biomarkers, such as...

journal_title：Expert review of molecular diagnostics

authors： Michaelidou K,Agelaki S,Mavridis K

更新日期：2020-03-01 00:00:00

abstract：:Introduction: Human prion diseases are a heterogeneous group of incurable and debilitating conditions characterized by a progressive degeneration of the central nervous system. The conformational changes of the cellular prion protein and its formation into an abnormal isoform, spongiform degeneration, neuronal loss, a...

journal_title：Expert review of molecular diagnostics

authors： Thüne K,Schmitz M,Villar-Piqué A,Altmeppen HC,Schlomm M,Zafar S,Glatzel M,Llorens F,Zerr I

更新日期：2019-11-01 00:00:00

abstract：:ST2, an IL-1 receptor family member with transmembrane (ST2L) and soluble (sST2) isoforms, was originally described in the context of inflammatory and autoimmune diseases. However, after the identification of IL-33 as the functional ligand for ST2, and conceptualization of the role of ST2/IL-33 signaling in cardiac re...

journal_title：Expert review of molecular diagnostics

authors： Bhardwaj A,Januzzi JL Jr

更新日期：2010-05-01 00:00:00

abstract：:High throughput gene sequencing is transforming the utilization of genomics in patient care by providing physicians with a powerful tool to aid the diagnosis and management of disease, particularly in precision oncology. As next-generation sequencing (NGS)-based diagnostic assays are developed, significant hurdles suc...

journal_title：Expert review of molecular diagnostics

authors： Kruglyak KM,Lin E,Ong FS

更新日期：2014-07-01 00:00:00

abstract：:Stroke is a multifactorial disease responsible for nearly 10% of deaths each year in industrialized countries. While some monogenic forms of stroke have been described, the vast majority result from the common polygenic form of the disease. Progress in molecular genetics has allowed the identification, through genome-...

journal_title：Expert review of molecular diagnostics

authors： Domingues-Montanari S,Mendioroz M,del Rio-Espinola A,Fernández-Cadenas I,Montaner J

更新日期：2008-07-01 00:00:00

abstract：:Cardiomyopathies are an important and heterogeneous group of common cardiac diseases. An increasing number of cardiomyopathies are now recognized to have familial forms, which result from single-gene mutations that render a Mendelian inheritance pattern, including hypertrophic cardiomyopathy, dilated cardiomyopathy, r...

journal_title：Expert review of molecular diagnostics

authors： Callis TE,Jensen BC,Weck KE,Willis MS

更新日期：2010-04-01 00:00:00

abstract：:MicroRNAs regulate target gene expression through translation repression or mRNA decay, and they are emerging as important modulators in cellular pathways. Previous studies have shown the occurrence of epigenetically modified miRNAs in colorectal cancer (CRC), identifying these miRNA methylation signatures may provide...

journal_title：Expert review of molecular diagnostics

authors： Cho WC

更新日期：2011-09-01 00:00:00

abstract：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. ...

journal_title：Expert review of molecular diagnostics

authors： Poole S,Kidd SP,Saeed K

更新日期：2018-06-01 00:00:00

abstract：:Rheumatoid arthritis (RA) is a systemic, chronic and inflammatory disease of unknown etiology. HLA-DRB1 and PTPN22 1858T gene variants are risk factors of RA, clinical manifestations and rate of progression of joint destruction in this autoimmune disease. Currently, several immunopathogenetic models of other genes (CT...

journal_title：Expert review of molecular diagnostics

authors： Nagy ZB,Csanád M,Tóth K,Börzsönyi B,Demendi C,Rigó J Jr,Joó JG

更新日期：2010-07-01 00:00:00

abstract：:Since the discovery of the link between miRNA and cancer, miRNAs have been investigated in virtually all tumors. Their ability to add a novel level of gene regulation and to target genes apparently not linked to each other has greatly intrigued researchers and physicians alike. In this review, the role of miRNAs in mu...

journal_title：Expert review of molecular diagnostics

authors： Rocci A,Hofmeister CC,Pichiorri F

更新日期：2014-11-01 00:00:00

abstract：:Introduction: Over the past decade, loop-mediated isothermal amplification (LAMP) technology has played an important role in molecular diagnostics. Amongst numerous nucleic acid amplification assays, LAMP stands out in terms of sample-to-answer time, sensitivity, specificity, cost, robustness, and accessibility, makin...

journal_title：Expert review of molecular diagnostics

authors： Moehling TJ,Choi G,Dugan LC,Salit M,Meagher RJ

更新日期：2021-01-27 00:00:00

abstract：:Invasive candidiasis is the most important opportunistic fungal infection, causing high morbidity and mortality. Traditional methods of diagnosis, which include blood culture and biopsy, usually lack both sensitivity and specificity, or become positive late in the course of the infection. Therefore, new nonculture-bas...

journal_title：Expert review of molecular diagnostics

authors： Laín A,Elguezabal N,Moragues MD,García-Ruiz JC,del Palacio A,Pontón J

更新日期：2008-05-01 00:00:00

abstract：:Among nucleic acid analytical methods, high-resolution melting analysis is gaining more and more attention. High-resolution melting provides simple, homogeneous solutions for variant scanning and genotyping, addressing the needs of today's overburdened laboratories with rapid turnaround times and minimal cost. The fle...

journal_title：Expert review of molecular diagnostics

authors： Montgomery JL,Sanford LN,Wittwer CT

更新日期：2010-03-01 00:00:00

abstract：INTRODUCTION: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 ...

journal_title：Expert review of molecular diagnostics

authors： Yang WL,Lu Z,Bast RC Jr

更新日期：2017-06-01 00:00:00

abstract：INTRODUCTION:A reliable liver autoimmune serology for the diagnosis of primary biliary cholangitis (PBC) is of particular importance. Recognition of patients at early stages and prompt treatment initiation may alter the outcome, slow progression, delays liver failure, and improves survival. AREAS COVERED:In this revie...

journal_title：Expert review of molecular diagnostics

authors： Gatselis NK,Dalekos GN

更新日期：2016-09-01 00:00:00

abstract：:Prenatal diagnosis of fetal genetic conditions is a standard part of modern obstetric care. Many of the current methods rely on invasive methods and are associated with an inherent risk of fetal loss. Consequently, there has been a long-term goal for development of noninvasive prenatal diagnostic methods. In 1997, the...

journal_title：Expert review of molecular diagnostics

authors： Chiu RW,Lo YM

更新日期：2002-01-01 00:00:00

abstract：:The capacity to use molecular techniques to establish the genetic diagnoses of the autosomal dominant ataxias has revolutionized the field. It is now possible to systematically classify these disorders according to the nature of the causative mutation, with implications for diagnostic testing, analysis of pathogenesis...

journal_title：Expert review of molecular diagnostics

authors： Margolis RL

更新日期：2003-11-01 00:00:00

abstract：:Biomarkers complement clinical assessment, electrocardiogram and cardiac imaging in the diagnosis, risk stratification, triage and management of patients with suspected acute cardiovascular diseases. While there is broad consensus that cardiac troponin is the preferred biomarker in clinical practice for the detection ...

journal_title：Expert review of molecular diagnostics

authors： Rubini Gimenez M,Twerenbold R,Mueller C

更新日期：2015-04-01 00:00:00

abstract：:Acute pancreatitis has a mortality rate of 5-10%. Early deaths are mainly due to multiorgan failure and late deaths are due to septic complications from pancreatic necrosis. The recently described 2012 Revised Atlanta Classification and the Determinant Classification both provide a more accurate description of edemato...

journal_title：Expert review of molecular diagnostics

authors： Gomatos IP,Xiaodong X,Ghaneh P,Halloran C,Raraty M,Lane B,Sutton R,Neoptolemos JP

更新日期：2014-04-01 00:00:00

abstract：INTRODUCTION:Hearing loss (HL) is the most common birth defect in industrialized countries with far-reaching social, psychological and cognitive implications. It is an extremely heterogeneous disease, complicating molecular testing. The introduction of next-generation sequencing (NGS) has resulted in great progress in ...

journal_title：Expert review of molecular diagnostics

authors： Sommen M,Wuyts W,Van Camp G

更新日期：2017-08-01 00:00:00