Abstract:
:The management of cancer and other genetically based diseases is far from optimal in even our most advanced medical centers. There is still uncertainty regarding how diseases will progress in certain patients, toxicity that must be tolerated with imprecise treatment regimens and significant potential for treatment failure. As our understanding of the complexity of these diseases has increased, it has become clear that we must move toward precisely tailored approaches to treating each individual patient. To that end, a major goal of current medical research is the rapid identification of the specific molecular alterations in each patient's disease. This will enable the design of optimal diagnosis, prognosis and treatment, significantly improving survival. This review describes one important approach to the genetic analysis of disease--molecular profiling--and the tenets and technologies necessary for its success.
journal_name
Expert Rev Mol Diagnjournal_title
Expert review of molecular diagnosticsauthors
Best CJ,Emmert-Buck MRdoi
10.1586/14737159.1.1.53keywords:
subject
Has Abstractpub_date
2001-05-01 00:00:00pages
53-60issue
1eissn
1473-7159issn
1744-8352pii
ERM010108journal_volume
1pub_type
杂志文章,评审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
pub_type: 杂志文章,评审
doi:10.1586/14737159.8.3.315
更新日期:2008-05-01 00:00:00
abstract::The generation of a draft sequence of a the human genome has provided the opportunity to characterize human diversity, even as it pertains to differences in host response to parasitic infection with organisms that cause lymphatic filariasis, malaria and schistosomiasis. Worldwide, human infection with filarial pathoge...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.3.3.367
更新日期:2003-05-01 00:00:00
abstract::Klinefelter syndrome is the most common chromosome abnormality in humans. The estimated prevalence is one in 500 to one in 1000 males but due to the widely variable and often aspecific features, only one in four cases are recognized. The most specific clinical features which can be observed at adult age are small test...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.10.63
更新日期:2010-09-01 00:00:00
abstract:INTRODUCTION:Bodily fluids like serum and plasma contain significant amounts of tumor-derived circulating cell-free RNA, which holds the potential to serve as diagnostic biomarker. Consequently, liquid biopsies comprising circulating cell-free RNA might help to facilitate personalized treatment strategies for patients ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,meta分析,评审
doi:10.1080/14737159.2016.1239531
更新日期:2016-10-01 00:00:00
abstract: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...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1080/14737159.2019.1579644
更新日期:2019-03-01 00:00:00
abstract:INTRODUCTION:Cytomegalovirus (CMV) is a common opportunistic infection that contributes to poor outcomes in hematopoietic stem cell transplant (HSCT) recipients. Prevention of CMV end-organ disease in allogeneic HSCT recipients is commonly achieved by preemptive antiviral therapy of asymptomatic CMV reactivation that i...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1325737
更新日期:2017-07-01 00:00:00
abstract::Hearing loss has a genetic etiology in the majority of cases and is very common. The universal newborn hearing screening program, together with remarkable recent progress in the characterization of genes associated with the function of hearing, have resulted in increased demand and exciting possibilities of detecting ...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.6.3.375
更新日期:2006-05-01 00:00:00
abstract::EU regulations stipulate the labeling of food products containing genetically modified organisms (GMOs) unless the GMO content is due to adventitious and unintended 'contamination' and not exceeding the 1% level at ingredient basis. In addition, member states have to ensure full traceability at all stages of the placi...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2.1.69
更新日期:2002-01-01 00:00:00
abstract::The hematogenous dissemination of cancer and development of distant metastases is the cause of nearly all cancer deaths. Detection of circulating tumor cells (CTCs) as a surrogate biomarker of metastases has gained increasing interest. There is accumulating evidence on development of novel technologies for CTC detecti...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.12.12
更新日期:2012-04-01 00:00:00
abstract::The molecular investigation of lung cancer has opened up an advanced area for the diagnosis and therapeutic management of lung cancer patients. Gene alterations in cancer initiation and progression provide not only information on molecular changes in lung cancer but also opportunities in advanced therapeutic regime by...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.2015.1063420
更新日期:2015-01-01 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
pub_type: 社论
doi:10.1586/14737159.2015.1111140
更新日期:2015-01-01 00:00:00
abstract::Developing more precise diagnostics approaches to predict cancer progression and prognosis is the key to precision medicine. Overwhelming evidence now suggests that small non-coding RNAs such as miRNAs can be useful tools as biomarkers for molecular diagnostics. miRNAs can serve as biomarkers in a variety of diseases,...
journal_title:Expert review of molecular diagnostics
pub_type: 社论
doi:10.1586/14737159.2014.971761
更新日期:2014-11-01 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
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1340834
更新日期:2017-08-01 00:00:00
abstract::Introduction: Currently, genetic testing of BRCA1/2 genes includes screening for single-nucleotide variants, small insertions/deletions, and copy number variations (CNVs). In fact, many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2019.1657011
更新日期:2019-09-01 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
pub_type: 社论
doi:10.1586/14737159.2016.1116943
更新日期:2016-01-01 00:00:00
abstract:INTRODUCTION:Minimally invasive methods will augment the clinical approach for establishing the diagnosis or monitoring treatment response of central nervous system tumors. Liquid biopsy by blood or cerebrospinal fluid sampling holds promise in this regard. Areas covered: In this literature review, the authors highligh...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2017.1374854
更新日期:2017-10-01 00:00:00
abstract::Molecular genetic testing involves DNA analysis using various methods for the purpose of diagnosing genetic disorders. In the prenatal DNA diagnostic setting, fetal DNA is usually tested for a specific single-gene disorder for which the fetal risk is 25% or more. In contrast, cytogenetic testing is often used to detec...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.5.6.883
更新日期:2005-11-01 00:00:00
abstract:INTRODUCTION:The 2014-16 outbreak of ebola virus disease (EVD) in West Africa resulted in 11,308 deaths. During the outbreak only 60% of patients were laboratory confirmed and global health authorities have identified the need for accurate and readily deployable molecular diagnostics as an important component of the id...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1080/14737159.2019.1595592
更新日期:2019-04-01 00:00:00
abstract::Introduction: This review concerns biomarkers of blood activation and their measurement in plasma, as described in the literature up to 2019, and from our personal experience. How their measurement can be informative and useful, for research studies or for diagnostic applications, is presented and discussed.Areas cove...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1080/14737159.2020.1704258
更新日期:2020-01-01 00:00:00
abstract::Introduction: Chlamydia trachomatis and Neisseria gonorrhoeae infection rates continue to rise worldwide. Increasing screening of the largely asymptomatic infections is critical for timely and effective disease control. Laboratory solutions that can handle increasing volumes and generate highly accurate test results a...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1080/14737159.2020.1724093
更新日期:2020-04-01 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
pub_type: 杂志文章,评审
doi:10.1586/14737159.2014.943665
更新日期:2014-09-01 00:00:00
abstract::Genetic mapping by linkage analysis has been an invaluable tool in the positional strategy to identify the molecular basis of many rare Mendelian disorders. With the attention of the scientific and medical community shifting towards the analysis of more common, complex traits, it has become necessary to develop new ap...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.5.5.781
更新日期:2005-09-01 00:00:00
abstract::Lipoprotein-associated phospholipase (Lp-PL)A2 is a recently described and potentially useful plasma biomarker associated with cardiovascular disease. The enzyme, originally named platelet-activating factor acetylhydrolase (PAF-AH), has two prominent biological activities. First, it inactivates the prominent proinflam...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.7.5.511
更新日期:2007-09-01 00:00:00
abstract::The microscopic pathology of Hodgkin lymphoma has been recognized for well over a century; however, only in the past 15 years has the enigmatic nature of this peculiar neoplasm been somewhat unraveled. This has been accomplished via a combination of the acquisition, via microdissection, of the prototypically rare mali...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.7.6.805
更新日期:2007-11-01 00:00:00
abstract::Certain optical conditions permit the unaided eye to detect thickness changes on surfaces on the order of 20 A, which are of similar dimensions to monomolecular interactions between proteins or hybridization of complementary nucleic acid sequences. Such detection exploits specific interference of reflected white light...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.6.1.89
更新日期:2006-01-01 00:00:00
abstract::The particular reasons for the relative lack in development of point-of-care (PoC) diagnostics in a business context were discussed in our sister journal, Expert Review of Medical Devices, over 2 years ago. At that time, it could be seen that the concept of PoC testing was being revisited for at least the fifth time i...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.8.6.679
更新日期:2008-11-01 00:00:00
abstract::The Presage(®) ST2 Assay (Critical Diagnostics, CA, USA) is an in vitro diagnostic device that quantitatively measures soluble suppression of tumorigenicity 2 (sST2) in serum and plasma by ELISA. This assay is US FDA approved and is indicated to be used in conjunction with clinical evaluation as an aid in assessing th...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/erm.12.128
更新日期:2013-01-01 00:00:00
abstract::A concise survey of the emerging PD-loop technology is presented, which outlines several exemplary methods with robust DNA diagnostic potential: duplex DNA capture, topological DNA labeling, nondenaturing DNA sequencing and hybridization of molecular beacons to double-stranded DNA. Advantages of these new PNA-based as...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章
doi:10.1586/14737159.1.3.343
更新日期:2001-09-01 00:00:00
abstract::Miniature optical sensors that specifically identify low concentrations of environmental and biological substances are in high demand. Currently, there is no optical sensor that provides identification of the aforementioned species without amplification techniques at naturally occurring concentrations. Recently, it ha...
journal_title:Expert review of molecular diagnostics
pub_type: 杂志文章,评审
doi:10.1586/14737159.4.4.527
更新日期:2004-07-01 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
pub_type: 评论,杂志文章
doi:10.1586/erm.11.57
更新日期:2011-09-01 00:00:00