Molecular diagnostics for hereditary hearing loss in children.

abstract：:Methylation of cytosines in cytosine-guanine (CpG) dinucleotides is one of the most important epigenetic alterations in animals. The presence of methylcytosine in the promoter of specific genes has profound consequences on local chromatin structure and on the regulation of gene expression. Changes in DNA methylation p...

journal_title：Expert review of molecular diagnostics

authors： Dehan P,Kustermans G,Guenin S,Horion J,Boniver J,Delvenne P

更新日期：2009-10-01 00:00:00

abstract：:Next-generation sequencing, also known as massively paralleled sequencing, offers an unprecedented opportunity to study disease mechanisms of inherited retinal dystrophies: a dramatic change from a few years ago. The specific involvement of the retina and the manageable number of genes to sequence make inherited retin...

journal_title：Expert review of molecular diagnostics

authors： Chiang JP,Lamey T,McLaren T,Thompson JA,Montgomery H,De Roach J

更新日期：2015-01-01 00:00:00

abstract：:The therapeutic management of patients with lupus nephritis (LN) remains a major challenge. The availability of biomarkers that accurately predict renal flares, response to immunosuppressive treatment and risk of progression to end-stage renal disease would allow the more effective use of currently available immunosup...

journal_title：Expert review of molecular diagnostics

authors： Edelbauer M,Ho J

更新日期：2011-07-01 00:00:00

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 fai...

journal_title：Expert review of molecular diagnostics

authors： Best CJ,Emmert-Buck MR

更新日期：2001-05-01 00:00:00

abstract：AIM:Molecular diagnosis of fragile X syndrome demands assessment of fragile X mental retardation 1 (FMR1) CGG repeat size and methylation status, while predicting disease transmission risk requires determination of AGG interruption pattern. There is currently no single assay that provides all three categories of inform...

journal_title：Expert review of molecular diagnostics

authors： Rajan-Babu IS,Teo CR,Lian M,Lee CG,Law HY,Chong SS

更新日期：2015-03-01 00:00:00

abstract：:Activating mutation of KRAS plays a significant role in the pathogenesis of common human malignancies and molecular testing of KRAS mutation has emerged as an essential biomarker in the current practice of clinical oncology. The presence of KRAS mutation is generally associated with clinical aggressiveness of the canc...

journal_title：Expert review of molecular diagnostics

authors： Perincheri S,Hui P

更新日期：2015-03-01 00:00:00

abstract：INTRODUCTION:Advances in the biology of non-small-cell lung cancer, especially adenocarcinoma, reveal multiple molecular subtypes driving oncogenesis. Accordingly, individualized targeted therapeutics are based on mutational diagnostics. AREAS COVERED:Advances in strategies and techniques for individualized treatment,...

journal_title：Expert review of molecular diagnostics

authors： Salgia R

更新日期：2016-07-01 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：:Colorectal cancer (CRC) is a slow-developing cancer (10-15 years) with one of the highest frequencies in the world's population. Many countries have implemented various CRC screening programs, but have not achieved the desired compliance. Colonoscopy - considered the gold standard for CRC screening - has its limitatio...

journal_title：Expert review of molecular diagnostics

authors： Molnár B,Tóth K,Barták BK,Tulassay Z

更新日期：2015-02-01 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：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:Procalcitonin is a surrogate infection blood marker whose levels help estimate the likelihood of bacterial infections and correlate with their resolution. Recent trials have revealed the benefits of inclusion of procalcitonin in antibiotic stewardship protocols for initiation and discontinuation of antimic...

journal_title：Expert review of molecular diagnostics

authors： Schuetz P,Bretscher C,Bernasconi L,Mueller B

更新日期：2017-06-01 00:00:00

abstract：:More than a decade of intensive use of microarray technology has flooded the scientific community with genome-wide expression data of diverse biological states. As a result, connection of the expression signatures of a relatively small number of genes related to, for example, disease states, patient responses or toxic...

journal_title：Expert review of molecular diagnostics

authors： Rautio JJ,Satokari R,Vehmaan-Kreula P,Serkkola E,Söderlund H

更新日期：2008-07-01 00:00:00

abstract：:Reverse-transcription PCR (RT-PCR) coupled with electrospray ionization mass spectrometry (ESI-MS) is a high-throughput nucleic acid-based technology that relies on the accurate measurement of the molecular weight of PCR amplicons that can be used to deduce the base counts (number of As, Gs, Cs and Ts) of DNA. These a...

journal_title：Expert review of molecular diagnostics

authors： Deyde VM,Sampath R,Gubareva LV

更新日期：2011-01-01 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：: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

authors： Demidov VV

更新日期：2001-09-01 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

authors： Concolino P,Capoluongo E

更新日期：2019-09-01 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: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

authors： Ramanan P,Razonable RR

更新日期：2017-07-01 00:00:00

abstract：:The burden of cervical cancer is very high in low-resource countries, while it is lower in several high-income countries. Secondary prevention based on cervical screening has been very successful in countries where the resources exist to ensure high-quality and good coverage of the population at risk. In many develope...

journal_title：Expert review of molecular diagnostics

authors： Grce M

更新日期：2009-11-01 00:00:00

abstract：:The accuracy of new molecular diagnostics, fluoresence in situ hybridization or quantitative fluorescence-PCR (collectively known as rapid aneuploidy screening), in prenatal diagnosis has already been demonstrated in a number of large studies. The challenge now is how to apply them clinically in the most cost-effectiv...

journal_title：Expert review of molecular diagnostics

authors： Leung WC,Lau ET,Lao TT,Tang MH

更新日期：2004-05-01 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: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：:Noninvasive tests for detecting genetic or molecular alterations in urine indicative of urothelial cancer are increasingly becoming the focus of urological cancer research. Since its approval by the US FDA in 2001, the fluorescence in situ hybridization test (Vysis UroVysion) has been widely evaluated. In general, pub...

journal_title：Expert review of molecular diagnostics

authors： Arentsen HC,de la Rosette JJ,de Reijke TM,Langbein S

更新日期：2007-01-01 00:00:00

abstract：:Viral-associated malignancies usually arise in the setting of altered immunity or with declines in immune function associated with aging. The main culprits are the lymphotropic herpesvirus, including Epstein-Barr virus (EBV) and human herpesvirus-8, which are the focus of this review. Chronic persistent infection and ...

journal_title：Expert review of molecular diagnostics

authors： Yin CC,Jones D

更新日期：2006-11-01 00:00:00

abstract：INTRODUCTION:There is growing interest in the possibility of measuring the macronutrient content of human milk. Several studies that intend to validate commercially available human milk analyzers have been published with inconsistent results. This review will focus on currently available, verified methodologies for ana...

journal_title：Expert review of molecular diagnostics

authors： Borràs-Novell C,Herranz Barbero A,Aldecoa-Bilbao V,Feixas Orellana G,Balcells Esponera C,Sánchez Ortiz E,García-Algar O,Iglesias Platas I

更新日期：2020-09-01 00:00:00

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：:Background: Recently, considerable evidence pointed out monocyte to high-density lipoprotein ratio (MHR) is highly related to inflammatory related diseases. We aim to explore the level of MHR in acute aortic dissection (AAD) patients and determine whether MHR can be a novel diagnostic marker of AAD. Research design an...

journal_title：Expert review of molecular diagnostics

authors： Du X,Zhang S,Xu J,Xiang Q,Tian F,Li X,Guo L,Zhu L,Qu P,Fu Y,Tan Y,Gui Y,Wen T,Godinez B,Liu L MD, PHD

更新日期：2020-12-01 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

authors： Haes AJ,Duyne RP

更新日期：2004-07-01 00:00:00

abstract：:Circulating tumor cells (CTCs) are increasingly recognized for their potential utility in cancer diagnosis and prognosis. Emerging technologies in the past decade have allowed possible isolation and characterization of CTCs in the peripheral blood of cancer patients, including immunomagnetic technique coupled with imm...

journal_title：Expert review of molecular diagnostics

authors： Cho WC

更新日期：2014-03-01 00:00:00