Molecular diagnostics of acute intermittent porphyria.

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：: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

authors： Wiechec E

更新日期：2011-05-01 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：: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：:Fluorescence in situ hybridization, spectral karyotyping, multiplex fluorescence in situ hybridization, comparative genomic hybridization, and more recently array comparative genomic hybridization, represent advancements in the field of molecular cytogenetics. The application of these techniques for the analysis of sp...

journal_title：Expert review of molecular diagnostics

authors： Dorritie K,Montagna C,Difilippantonio MJ,Ried T

更新日期：2004-09-01 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：: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：:Testing for amplification of the human EGF receptor 2 (HER2) gene by in situ hybridization is a central principle for the identification of breast cancer patients likely to respond to treatments directed toward HER2. However, its application in clinical routine has been somewhat restricted by the typical use of a visu...

journal_title：Expert review of molecular diagnostics

authors： Foged NT,Brügmann A,Jørgensen JT

更新日期：2013-04-01 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: Osteoarthritis (OA) is a degenerative disease which primarily affects hyaline cartilage, leading to pain, stiffness and loss of mobility of the entire articulation. Diagnosis is commonly based on symptoms and radiographs, but there is a growing interest in detecting novel biomarkers, in serum, urine and ...

journal_title：Expert review of molecular diagnostics

authors： Ravalli S,Szychlinska MA,Lauretta G,Di Rosa M,Musumeci G

更新日期：2020-04-01 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：:Malignant melanoma is one of the most aggressive cancers. Several new therapeutic strategies that focus on immuno- and/or targeted therapy have been developed, which have entered clinical trials or already been approved. This review provides an update on prognostic and predictive biomarkers in melanoma that may be use...

journal_title：Expert review of molecular diagnostics

authors： Foth M,Wouters J,de Chaumont C,Dynoodt P,Gallagher WM

更新日期：2016-01-01 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：INTRODUCTION:Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a cent...

journal_title：Expert review of molecular diagnostics

authors： Iacocca MA,Hegele RA

更新日期：2017-07-01 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 emerging field of metabolomics, in which a large number of small-molecule metabolites from body fluids or tissues are detected quantitatively in a single step, promises immense potential for early diagnosis, therapy monitoring and for understanding the pathogenesis of many diseases. Metabolomics methods are mostly...

journal_title：Expert review of molecular diagnostics

authors： Gowda GA,Zhang S,Gu H,Asiago V,Shanaiah N,Raftery D

更新日期：2008-09-01 00:00:00

abstract：:A successful biodefense strategy relies upon any combination of four approaches. A nation can protect its troops and citizenry first by advanced mass vaccination, second, by responsive ring vaccination, and third, by post-exposure therapeutic treatment (including vaccine therapies). Finally, protection can be achieved...

journal_title：Expert review of molecular diagnostics

authors： Weinberg S

更新日期：2004-11-01 00:00:00

abstract：:Indeterminate thyroid lesions are diagnosed in up to 30% of fine needle aspirations. These nodules harbor malignancy in more than 25% of cases, and hemithyroidectomy or total thyroidectomy has therefore been advocated in order to achieve definitive diagnosis. Recently, many molecular markers have been investigated in ...

journal_title：Expert review of molecular diagnostics

authors： Keutgen XM,Filicori F,Fahey TJ 3rd

更新日期：2013-07-01 00:00:00

abstract：:Cancer becomes the second leading cause of death in the world. An effective strategy for early diagnosis of the disease is key to reduce the mortality and morbidity. Development of effective monoclonal antibody (mAb)-based assays or diagnostic imaging techniques for detection of antigens and small molecules that are r...

journal_title：Expert review of molecular diagnostics

authors： Zhang X,Soori G,Dobleman TJ,Xiao GG

更新日期：2014-01-01 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：: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：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

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

更新日期：2018-10-01 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：:Circulating tumor cells (CTCs) in the blood of cancer patients have received increasing attention as new diagnostic tool enabling 'liquid biopsies'. In contrast to the wealth of descriptive studies demonstrating the clinical relevance of CTCs as biomarkers, the extremely low concentration of CTCs in the peripheral blo...

journal_title：Expert review of molecular diagnostics

authors： Alix-Panabières C,Pantel K

更新日期：2015-01-01 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：: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

authors： Aarts HJ,van Rie JP,Kok EJ

更新日期：2002-01-01 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

authors： Carlquist JF,Muhlestein JB,Anderson JL

更新日期：2007-09-01 00:00:00

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

authors： Chiu RW,Lo YM

更新日期：2002-01-01 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：: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