Molecular diagnostic testing for primary biliary cholangitis.

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：:Since the early 1990s, rapid tests have been available for detection of HIV infection. They were intended for field diagnosis, emergency and home testing. In addition, rapid tests for anti-HIV, hepatitis B surface antigen and antihepatitis C virus have been used for blood screening in many resource-poor areas to save ...

journal_title：Expert review of molecular diagnostics

authors： Allain JP,Lee H

更新日期：2005-01-01 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

authors： Jenison RD,Bucala R,Maul D,Ward DC

更新日期：2006-01-01 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：:Recent progress in the development of molecular diagnostics in medicine has been rapid and the hope has been expressed by some people that it will soon be possible to have a detailed 'genetic readout' to assist in the diagnosis of treatment of a variety of diseases. However, such an outcome may be neither achievable n...

journal_title：Expert review of molecular diagnostics

authors： Hall AG,Coulthard SA,Irving JA

更新日期：2003-01-01 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：: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：:Introduction: The use of liquid biopsy on the blood from solid malignancies provides a convenient way of detecting actionable mutations, monitoring treatment response, detecting early recurrence and prognosticating outcomes. The aim of this review is to discuss the current status and future direction of serum biomarke...

journal_title：Expert review of molecular diagnostics

authors： Kouba E,Lopez-Beltran A,Montironi R,Massari F,Huang K,Santoni M,Chovanec M,Cheng M,Scarpelli M,Zhang J,Cimadamore A,Cheng L

更新日期：2020-02-01 00:00:00

abstract：:Existing and future diagnostic technologies are providing a huge amount of data about the patient, which are to be sensibly managed by the treating physician. More than that, the sheer complexity of the interrelation between these data are calling for a radically new approach in the handling of medical data and inform...

journal_title：Expert review of molecular diagnostics

authors： Fierz W

更新日期：2002-07-01 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：: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：: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

authors： Mishra PJ

更新日期：2014-11-01 00:00:00

abstract：:Trypanosoma cruzi is the etiologic agent of Chagas' disease, a chronic inflammatory condition that results in heart and digestive complications. The first draft of the parasite genome is now complete and it is expected that, along with the published genomic and proteomic analyses discussed herein, it will lead to the ...

journal_title：Expert review of molecular diagnostics

authors： Huete-Pérez JA,Flores-Obando RE,Ghedin E,Caffrey CR

更新日期：2005-07-01 00:00:00

abstract：:Oligonucleotide microarrays such as comparative genomic hybridization arrays and SNP microarrays enable the identification of genomic imbalances - also termed copy-number variants - with increasing resolution. This article will focus on the most significant applications of high-throughput oligonucleotide microarrays, ...

journal_title：Expert review of molecular diagnostics

authors： Keren B,Le Caignec C

更新日期：2011-06-01 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

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：:The Introduction of targeted therapeutics into clinical practice has created major opportunities for further development of the molecular diagnostics industry. Emerging genomic and proteomic technologies and information are now resulting in the molecular subclassification of disease as the basis for diagnosis, prognos...

journal_title：Expert review of molecular diagnostics

authors： Ross JS,Ginsburg GS

更新日期：2002-11-01 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：:Alzheimer's disease is the most common form of dementia in the elderly and its prevalence is rapidly rising. Although there is no cure for Alzheimer's disease, treatment can be administered to slow progression or delay the onset of symptoms. A major challenge is the early identification of patients who will develop Al...

journal_title：Expert review of molecular diagnostics

authors： Chang CY,Silverman DH

更新日期：2004-01-01 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：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

authors： Shankar GM,Balaj L,Stott SL,Nahed B,Carter BS

更新日期：2017-10-01 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

authors： Giltay JC,Maiburg MC

更新日期：2010-09-01 00:00:00

abstract：:Endometriosis is defined as the presence of endometrial glands and stroma outside the uterus, in different parts of the peritoneal cavity. It affects up to 10% of reproductive-age women and up to 50% of women with infertility. Surgical diagnosis of endometriosis is still the gold standard, with no diagnostic biomarker...

journal_title：Expert review of molecular diagnostics

authors： Rižner TL

更新日期：2015-04-01 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：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：: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：: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: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：: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：: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