The potential of whole genome NGS for infectious disease diagnosis.

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：: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：: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：: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

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

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：: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:Bipolar disorder is a chronic and disabling mood disorder with a complex pathophysiological basis. A significant percentage of patients do not receive correct diagnosis which directly influences therapeutic response, rendering recovery troublesome. There is a long-standing need for proper non-clinically ba...

journal_title：Expert review of molecular diagnostics

authors： Teixeira AL,Salem H,Frey BN,Barbosa IG,Machado-Vieira R

更新日期：2016-11-01 00:00:00

abstract：INTRODUCTION:Hearing loss (HL) is the most common birth defect in industrialized countries with far-reaching social, psychological and cognitive implications. It is an extremely heterogeneous disease, complicating molecular testing. The introduction of next-generation sequencing (NGS) has resulted in great progress in ...

journal_title：Expert review of molecular diagnostics

authors： Sommen M,Wuyts W,Van Camp G

更新日期：2017-08-01 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

abstract：:Introduction: Automated image analysis provides an objective, quantitative, and reproducible method of measurement of biomarkers. Image quantification is particularly well suited for the analysis of tissue microarrays which has played a major pivotal role in the rapid assessment of molecular biomarkers. Data acquired ...

journal_title：Expert review of molecular diagnostics

authors： Yaghoobi V,Martinez-Morilla S,Liu Y,Charette L,Rimm DL,Harigopal M

更新日期：2020-05-01 00:00:00

abstract：INTRODUCTION:Tuberculosis (TB) is a leading killer worldwide. End TB strategy aims at ending the TB epidemic by 2030. Early, accurate, and affordable diagnosis represents a cornerstone to achieve this goal. Innovative strategies for TB diagnostics have been introduced. However, the ideal assay is yet unavailable and co...

journal_title：Expert review of molecular diagnostics

authors： El-Samadony H,Althani A,Tageldin MA,Azzazy HME

更新日期：2017-05-01 00:00:00

abstract：:Introduction: Big Data technologies instilled an informational perspective to our understanding of the world. However, fundamental issues such as the management and storage of data can create privacy concerns. Heterogeneous types of data pose challenges in reproducibility and standardization. It is now an opportunity ...

journal_title：Expert review of molecular diagnostics

authors： Wong YKE,Lam KW,Ho KY,Yu CSA,Cho WC,Tsang HF,Chu MKM,Ng PWL,Tai CSW,Chan LWC,Wong EYL,Wong SCC

更新日期：2019-10-01 00:00:00

abstract：INTRODUCTION:Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired tha...

journal_title：Expert review of molecular diagnostics

authors： Sermon K

更新日期：2017-01-01 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：:Parkinson's disease (PD) is a common, heterogeneous syndrome diagnosed clinically by the presence of classical neurological symptoms and the absence of 'red flags' that suggest alternative secondary parkinsonian disorders. Neuropathologically, nigrostriatal loss and the presence of proteinaceous inclusions (Lewy bodie...

journal_title：Expert review of molecular diagnostics

authors： Mellick GD,Silburn PA,Sutherland GT,Siebert GA

更新日期：2010-11-01 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：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：: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

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

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：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：: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：: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：: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：: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：: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：:The fundamental strategy of the current postgenomic era or the era of functional genomics is to expand the scale of biologic research from studying single genes or proteins to studying all genes or proteins simultaneously using a systematic approach. As recently developed methods for obtaining genome-wide mRNA express...

journal_title：Expert review of molecular diagnostics

authors： Ewis AA,Zhelev Z,Bakalova R,Fukuoka S,Shinohara Y,Ishikawa M,Baba Y

更新日期：2005-05-01 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：: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: 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：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