Current concepts in the genetic diagnostics of rheumatoid arthritis.

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 (CTLA4, MIF, PADI4 and SLC22A4) are under debate. The clinical influence of some of the gene polymorphisms associated with RA and the principles of pharmacogenetics applied to different therapies, such as classical disease-modifying anti-rheumatic drugs and new biological agents. Pharmacogenetics is a rapidly advancing area of research that holds the promise that therapies will soon be tailored to an individual patient's genetic profile.

journal_name

Expert Rev Mol Diagn

authors

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

doi

10.1586/erm.10.36

subject

Has Abstract

pub_date

2010-07-01 00:00:00

pages

603-18

issue

5

eissn

1473-7159

issn

1744-8352

journal_volume

10

pub_type

杂志文章
  • Evaluation of COBAS AmpliPrep/COBAS TaqMan CMV Test for use in hematopoietic stem cell transplant recipients.

    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

    authors: Ramanan P,Razonable RR

    更新日期:2017-07-01 00:00:00

  • Rapid tests for detection of viral markers in blood transfusion.

    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

    pub_type: 杂志文章

    doi:10.1586/14737159.5.1.31

    authors: Allain JP,Lee H

    更新日期:2005-01-01 00:00:00

  • The potential of whole genome NGS for infectious disease diagnosis.

    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

    authors: Lecuit M,Eloit M

    更新日期:2015-01-01 00:00:00

  • Current molecular diagnostics of breast cancer and the potential incorporation of microRNA.

    abstract::Although comprehensive molecular diagnostics and personalized medicine have sparked excitement among researchers and clinicians, they have yet to be fully incorporated into today's standard of care. This is despite the discovery of disease-related oncogenes, tumor-suppressor genes and protein biomarkers, as well as ot...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章,评审

    doi:10.1586/erm.09.25

    authors: Zoon CK,Starker EQ,Wilson AM,Emmert-Buck MR,Libutti SK,Tangrea MA

    更新日期:2009-07-01 00:00:00

  • Molecular evaluation of renal biopsies: a search for predictive and prognostic markers in lupus nephritis.

    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

    pub_type: 评论,杂志文章

    doi:10.1586/erm.11.39

    authors: Edelbauer M,Ho J

    更新日期:2011-07-01 00:00:00

  • Laser capture microdissection technology.

    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

    pub_type: 杂志文章,评审

    doi:10.1586/14737159.7.5.647

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

    更新日期:2007-09-01 00:00:00

  • The CCN3 (NOV) cell growth regulator: a new tool for molecular medicine.

    abstract::The CCN genes encode secreted signaling proteins that participate in fundamental processes including cell adhesion, proliferation and differentiation, embryogenesis, tissue remodeling and patterning. Abnormal expression of CCN proteins is associated with several pathological conditions, including vascular diseases, fi...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章,评审

    doi:10.1586/14737159.3.5.597

    authors: Perbal B

    更新日期:2003-09-01 00:00:00

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

    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

    authors: Roa BB,Pulliam J,Eng CM,Cheung SW

    更新日期:2005-11-01 00:00:00

  • Prognostic markers in acute pancreatitis.

    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

    pub_type: 杂志文章,评审

    doi:10.1586/14737159.2014.897608

    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

  • Infrared analyzers for the measurement of breastmilk macronutrient content in the clinical setting.

    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

    pub_type: 杂志文章

    doi:10.1080/14737159.2020.1816465

    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

  • Predictive biomarkers for the treatment of resectable esophageal and esophago-gastric junction adenocarcinoma: from hypothesis generation to clinical validation.

    abstract:INTRODUCTION:Esophageal and esophago-gastric junction (EGJ) adenocarcinomas remain a major health problem worldwide with a worryingly increasing incidence. Recent trials indicate survivals benefit for preoperative or perioperative chemoradiotherapy compared to surgery alone. Beside standard chemoradiotherapy regimens, ...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章,评审

    doi:10.1080/14737159.2018.1454312

    authors: Piro G,Carbone C,Santoro R,Tortora G,Melisi D

    更新日期:2018-04-01 00:00:00

  • High serum caspase-3 levels in hepatocellular carcinoma prior to liver transplantation and high mortality risk during the first year after liver transplantation.

    abstract::Background: Higher liver caspase-3 activity has been found in patients with different liver diseases. However, there is no published data about circulating caspase-3 levels in patients with hepatocellular carcinoma (HCC) who underwent liver transplantation (LT). Therefore, our objective in this study was to determine ...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章

    doi:10.1080/14737159.2019.1619549

    authors: Lorente L,Rodriguez ST,Sanz P,González-Rivero AF,Pérez-Cejas A,Padilla J,Díaz D,González A,Martín MM,Jiménez A,Cerro P,Portero J,Barrera MA

    更新日期:2019-07-01 00:00:00

  • Contribution of serum biomarkers to the diagnosis of invasive candidiasis.

    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

    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

  • Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all.

    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

    pub_type: 杂志文章,评审

    doi:10.1586/erm.10.13

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

    更新日期:2010-04-01 00:00:00

  • Accuracy of early diagnosis and its impact on the management and course of Alzheimer's disease.

    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

    pub_type: 杂志文章,评审

    doi:10.1586/14737159.4.1.63

    authors: Chang CY,Silverman DH

    更新日期:2004-01-01 00:00:00

  • Molecular diagnostics of acute intermittent porphyria.

    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

    pub_type: 杂志文章,评审

    doi:10.1586/14737159.4.2.243

    authors: Kauppinen R

    更新日期:2004-03-01 00:00:00

  • Oligonucleotide microarrays in constitutional genetic diagnosis.

    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

    pub_type: 杂志文章,评审

    doi:10.1586/erm.11.32

    authors: Keren B,Le Caignec C

    更新日期:2011-06-01 00:00:00

  • Personalized medicine and pharmacogenetic biomarkers: progress in molecular oncology testing.

    abstract::In the field of oncology, clinical molecular diagnostics and biomarker discoveries are constantly advancing as the intricate molecular mechanisms that transform a normal cell into an aberrant state in concert with the dysregulation of alternative complementary pathways are increasingly understood. Progress in biomarke...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章,评审

    doi:10.1586/erm.12.59

    authors: Ong FS,Das K,Wang J,Vakil H,Kuo JZ,Blackwell WL,Lim SW,Goodarzi MO,Bernstein KE,Rotter JI,Grody WW

    更新日期:2012-07-01 00:00:00

  • Molecular markers related to immunosurveillance as predictive and monitoring tools in non-small cell lung cancer: recent accomplishments and future promises.

    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

    pub_type: 杂志文章

    doi:10.1080/14737159.2020.1724785

    authors: Michaelidou K,Agelaki S,Mavridis K

    更新日期:2020-03-01 00:00:00

  • Genomic and proteomic approaches for Chagas' disease: critical analysis of diagnostic methods.

    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

    pub_type: 杂志文章,评审

    doi:10.1586/14737159.5.4.521

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

    更新日期:2005-07-01 00:00:00

  • Application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis.

    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

    pub_type: 杂志文章,评审

    doi:10.1586/14737159.2.1.32

    authors: Chiu RW,Lo YM

    更新日期:2002-01-01 00:00:00

  • The introduction of syphilis point of care tests in resource limited settings.

    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

    pub_type: 杂志文章,评审

    doi:10.1080/14737159.2017.1303379

    authors: Marks M,Mabey DC

    更新日期:2017-04-01 00:00:00

  • Overview of procalcitonin assays and procalcitonin-guided protocols for the management of patients with infections and sepsis.

    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

    pub_type: 杂志文章,评审

    doi:10.1080/14737159.2017.1324299

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

    更新日期:2017-06-01 00:00:00

  • Near instrument-free, simple molecular device for rapid detection of herpes simplex viruses.

    abstract::The first near instrument-free, inexpensive and simple molecular diagnostic device (IsoAmp HSV, BioHelix Corp., MA, USA) recently received US FDA clearance for use in the detection of herpes simplex viruses (HSV) in genital and oral lesion specimens. The IsoAmp HSV assay uses isothermal helicase-dependent amplificatio...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章,评审

    doi:10.1586/erm.12.34

    authors: Lemieux B,Li Y,Kong H,Tang YW

    更新日期:2012-06-01 00:00:00

  • Paper-based analytical devices for clinical diagnosis: recent advances in the fabrication techniques and sensing mechanisms.

    abstract:INTRODUCTION:There is a significant interest in developing inexpensive portable biosensing platforms for various applications including disease diagnostics, environmental monitoring, food safety, and water testing at the point-of-care (POC) settings. Current diagnostic assays available in the developed world require so...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章,评审

    doi:10.1080/14737159.2017.1285228

    authors: Sher M,Zhuang R,Demirci U,Asghar W

    更新日期:2017-04-01 00:00:00

  • IFN-gamma release assays in tuberculosis management in selected high-risk populations.

    abstract::Tuberculosis (TB) is the most deadly infectious disease in the world. TB control relies on passive case findings and targeted treatment of latently infected individuals at high risk of disease progression. Tuberculin skin testing (TST) is conventionally used for detection of TB infection. Recently, blood assays measur...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章,评审

    doi:10.1586/14737159.9.2.165

    authors: Bocchino M,Bellofiore B,Matarese A,Galati D,Sanduzzi A

    更新日期:2009-03-01 00:00:00

  • The clinical implementation of copy number detection in the age of next-generation sequencing.

    abstract:INTRODUCTION:The role of copy number variants (CNVs) in disease is now well established. In parallel NGS technologies, such as long-read technologies, there is continual development and data analysis methods continue to be refined. Clinical exome sequencing data is now a reality for many diagnostic laboratories in both...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章,评审

    doi:10.1080/14737159.2018.1523723

    authors: Hehir-Kwa JY,Tops BBJ,Kemmeren P

    更新日期:2018-10-01 00:00:00

  • Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.

    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

    authors: Schrijver I,Gardner P

    更新日期:2006-05-01 00:00:00

  • Real-time PCR as a diagnostic tool for bacterial diseases.

    abstract::In recent years, quantitative real-time PCR tests have been extensively developed in clinical microbiology laboratories for routine diagnosis of infectious diseases, particularly bacterial diseases. This molecular tool is well-suited for the rapid detection of bacteria directly in clinical specimens, allowing early, s...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章,评审

    doi:10.1586/erm.12.53

    authors: Maurin M

    更新日期:2012-09-01 00:00:00

  • Implications of genomic instability in the diagnosis and treatment of breast cancer.

    abstract::Tumorigenesis is a multistep process resulting from DNA mutations observed at the DNA sequence and chromosome level as well as epigenetic changes, which affect expression of oncogenes and tumor suppressor genes. Breast cancer is a very heterogeneous disease that manifests in various histological and clinical types. De...

    journal_title:Expert review of molecular diagnostics

    pub_type: 杂志文章,评审

    doi:10.1586/erm.11.21

    authors: Wiechec E

    更新日期:2011-05-01 00:00:00