Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.

abstract：:Antimitochondrial antibodies are the serological hallmark of primary biliary cirrhosis (PBC). Besides antimitochondrial antibodies, the autoantibody profile of PBC includes antinuclear antibodies (ANA) which are detectable by indirect immunofluorescence in up to 50% of PBC patients. Two immunofluorescence patterns are...

journal_title：Expert review of molecular diagnostics

authors： Granito A,Muratori P,Quarneti C,Pappas G,Cicola R,Muratori L

更新日期：2012-01-01 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

authors： Roullet MR,Bagg A

更新日期：2007-11-01 00:00:00

abstract：:It is becoming increasingly clear that the herpes simplex viruses (HSVs) 1 and 2 constitute a major, global, public health problem, particularly as genital herpes is implicated in the causation of a significant percentage of onwards transmission of the HIV virus. A major factor in the transmission of HSV is that most ...

journal_title：Expert review of molecular diagnostics

authors： Ryan C,Kinghorn G

更新日期：2006-09-01 00:00:00

abstract：:The measurement of numerous samples as in drug screening or diagnostics has been improved significantly over recent years. The processing of a great number of carriers with 96, 384 or 1536 wells is not the limiting step anymore and more than 100,000 samples can be analyzed within 24 h. New challenges arise in optimizi...

journal_title：Expert review of molecular diagnostics

authors： Schaertl S,Meyer-Almes FJ

更新日期：2001-11-01 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：INTRODUCTION:Fine needle aspiration (FNA) with cytologic examination remains the standard of care for investigation of thyroid nodules. However, as many as 30% of FNA samples are cytologically indeterminate for malignancy, which confounds clinical management. To reduce the burden of repeat diagnostic testing and unnece...

journal_title：Expert review of molecular diagnostics

authors： Moore MD,Panjwani S,Gray KD,Finnerty BM,Zarnegar R,Fahey TJ 3rd

更新日期：2017-06-01 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：:Deciphering the cellular and molecular interactions that drive disease within the tissue microenvironment holds promise for discovering drug targets of the future. In order to recapitulate the in vivo interactions through molecular analysis, one must be able to analyze specific cell populations within the context of t...

journal_title：Expert review of molecular diagnostics

authors： Espina V,Heiby M,Pierobon M,Liotta LA

更新日期：2007-09-01 00:00:00

abstract：:The knowledge that the organism's metabolome is a potentially informative mirror of the impact of disease and its dynamics has led to promising developments in cancer research, strongly geared toward the discovery of new biomarkers of disease onset and progression. The present text reviews the advances made in the las...

journal_title：Expert review of molecular diagnostics

authors： Duarte IF,Rocha CM,Gil AM

更新日期：2013-09-01 00:00:00

abstract：:Concomitant advances made by the Human Genome Project and in the development of nucleic acid screening technologies are driving the expansion of pharmacogenomic research and molecular diagnostics. However, most current technologies are restrictive due to their complexity and/or cost, limiting the potential of personal...

journal_title：Expert review of molecular diagnostics

authors： de Arruda M,Lyamichev VI,Eis PS,Iszczyszyn W,Kwiatkowski RW,Law SM,Olson MC,Rasmussen EB

更新日期：2002-09-01 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：:Differences in protein levels and the activation of signaling pathways have been extensively studied in tumor tissues, but the implementation of protein profiling methods in routine hospital workflows lags far behind that of nucleic acid-based approaches. In this review, major technologies that are currently used for ...

journal_title：Expert review of molecular diagnostics

authors： Boellner S,Becker KF

更新日期：2015-01-01 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：: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：:Pharmacogenetics is changing the way medicines are discovered, developed and delivered to patients. In this article, we present the 'prescription' perspective--how the results of pharmacogenetic research will help minimize the risk of costly adverse drug reactions and treatment failures, by providing predictive tools ...

journal_title：Expert review of molecular diagnostics

authors： Renegar G,Rieser P,Manasco P

更新日期：2001-09-01 00:00:00

abstract：:This review focuses on the fluorescent protein microarrays applied to neurodegenerative disorders, a major health problem in our aging society. Biomarker discovery studies and work on new diagnostic tests are both included. Three platforms are described: antibody planar microarrays, comprising an array of well-defined...

journal_title：Expert review of molecular diagnostics

authors： Cretich M,Sola L,Gagni P,Chiari M

更新日期：2013-11-01 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：:Herbal medicines including traditional Chinese medicine are becoming increasingly more popular worldwide. However, there is considerable potential for interaction between herbal components and drugs, as all herbal medicines contain a combination of potentially biologically active compounds possessing various inherent ...

journal_title：Expert review of molecular diagnostics

authors： Hu M,Fan L,Zhou HH,Tomlinson B

更新日期：2012-11-01 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：: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

authors： Mueller T,Dieplinger B

更新日期：2013-01-01 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

authors： Bozkaya Y,Yazıcı O

更新日期：2019-03-01 00:00:00

abstract：INTRODUCTION:Rapidity, simplicity, and portability are highly desirable characteristics of tests and devices designed for performing diagnostics at the point of care (POC), either near patients managed in healthcare facilities or to offer bioanalytical alternatives in external settings. By reducing the turnaround time ...

journal_title：Expert review of molecular diagnostics

authors： Bissonnette L,Bergeron MG

更新日期：2017-05-01 00:00:00

abstract：:Mass spectrometry (MS) has found numerous applications in life sciences. It has high accuracy, sensitivity and wide dynamic range in addition to medium- to high-throughput capabilities. These features make MS a superior platform for analysis of various biomolecules including proteins, lipids, nucleic acids and carbohy...

journal_title：Expert review of molecular diagnostics

authors： Ganova-Raeva LM,Khudyakov YE

更新日期：2013-05-01 00:00:00

abstract：:Renal cell carcinoma is one of the common malignancies of the genitourinary tract. In approximately one third of patients, distant metastases are present at the time of initial diagnosis and in another third, the tumor will recur even after nephrectomy with a curative intent. Renal cell carcinoma is resistant to all c...

journal_title：Expert review of molecular diagnostics

authors： Mohammed A,Shergill I,Little B

更新日期：2009-01-01 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

authors： Schrijver I,Gardner P

更新日期：2006-05-01 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：INTRODUCTION:Syphilis remains an important and preventable cause of stillbirth and neonatal mortality. About 1 million women with active syphilis become pregnant each year. Without treatment, 25% of them will deliver a stillborn baby and 33% a low birth weight baby with an increased chance of dying in the first month o...

journal_title：Expert review of molecular diagnostics

authors： Marks M,Mabey DC

更新日期：2017-04-01 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：: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：: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