Contemporary genetics-based diagnostics of male infertility.

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：: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：:MicroRNAs regulate target gene expression through translation repression or mRNA decay, and they are emerging as important modulators in cellular pathways. Previous studies have shown the occurrence of epigenetically modified miRNAs in colorectal cancer (CRC), identifying these miRNA methylation signatures may provide...

journal_title：Expert review of molecular diagnostics

authors： Cho WC

更新日期：2011-09-01 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：: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: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 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

authors： Perbal B

更新日期：2003-09-01 00:00:00

abstract：:Introduction: Sepsis, defined as a life-threatening organ dysfunction resulting from dysregulated host response to infection, is still a major challenge for healthcare systems. Early diagnosis is highly needed, yet challenging, due to the non-specificity of clinical symptoms. Rapid and targeted application of therapy ...

journal_title：Expert review of molecular diagnostics

authors： Schenz J,Weigand MA,Uhle F

更新日期：2019-12-01 00:00:00

abstract：:Evaluation of: Wang WS, Liu LX, Li GP et al. Combined serum CA19-9 and miR-27a-3p in peripheral blood mononuclear cells to diagnose pancreatic cancer. Cancer Prev. Res. (Phila.) 6(4), 331-338 (2013). Patients with pancreatic ductal adenocarcinoma (PDAC) have a bleak outlook, primarily because tumors are detected late ...

journal_title：Expert review of molecular diagnostics

authors： Frampton AE,Fletcher CE,Gall TM,Castellano L,Bevan CL,Stebbing J,Krell J

更新日期：2013-06-01 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：: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：:The emergence of drug resistance remains one of the most challenging issues in the treatment of HIV-1 infection. The extreme replication dynamics of HIV facilitates its escape from the selective pressure exerted by the human immune system and by the applied combination drug therapy. This article reviews computational ...

journal_title：Expert review of molecular diagnostics

authors： Cordes F,Kaiser R,Selbig J

更新日期：2006-03-01 00:00:00

abstract：:The hematogenous dissemination of cancer and development of distant metastases is the cause of nearly all cancer deaths. Detection of circulating tumor cells (CTCs) as a surrogate biomarker of metastases has gained increasing interest. There is accumulating evidence on development of novel technologies for CTC detecti...

journal_title：Expert review of molecular diagnostics

authors： Balic M,Lin H,Williams A,Datar RH,Cote RJ

更新日期：2012-04-01 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: 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：: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：:Biomarkers complement clinical assessment, electrocardiogram and cardiac imaging in the diagnosis, risk stratification, triage and management of patients with suspected acute cardiovascular diseases. While there is broad consensus that cardiac troponin is the preferred biomarker in clinical practice for the detection ...

journal_title：Expert review of molecular diagnostics

authors： Rubini Gimenez M,Twerenbold R,Mueller C

更新日期：2015-04-01 00:00:00

abstract：:Whole-exome sequencing (WES) represents a significant breakthrough in the field of human genetics. This technology has largely contributed to the identification of new disease-causing genes and is now entering clinical laboratories. WES represents a powerful tool for diagnosis and could reduce the 'diagnostic odyssey'...

journal_title：Expert review of molecular diagnostics

authors： Tetreault M,Bareke E,Nadaf J,Alirezaie N,Majewski J

更新日期：2015-06-01 00:00:00

abstract：INTRODUCTION:The 2014-16 outbreak of ebola virus disease (EVD) in West Africa resulted in 11,308 deaths. During the outbreak only 60% of patients were laboratory confirmed and global health authorities have identified the need for accurate and readily deployable molecular diagnostics as an important component of the id...

journal_title：Expert review of molecular diagnostics

authors： Tembo J,Simulundu E,Changula K,Handley D,Gilbert M,Chilufya M,Asogun D,Ansumana R,Kapata N,Ntoumi F,Ippolito G,Zumla A,Bates M

更新日期：2019-04-01 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：: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

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

更新日期：2009-03-01 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：: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：: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：: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：: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：: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：INTRODUCTION:Nanoparticle-based disease diagnostics harness a range of unique physical and chemical phenomena for the detection of biomarkers at exceedingly low levels. This capability potentially enables the diagnosis of disease earlier in its progression and improves the likelihood of positive treatment outcomes. Thi...

journal_title：Expert review of molecular diagnostics

authors： Laurentius LB,Owens NA,Park J,Crawford AC,Porter MD

更新日期：2016-08-01 00:00:00

abstract：:The management of cancer and other genetically based diseases is far from optimal in even our most advanced medical centers. There is still uncertainty regarding how diseases will progress in certain patients, toxicity that must be tolerated with imprecise treatment regimens and significant potential for treatment fai...

journal_title：Expert review of molecular diagnostics

authors： Best CJ,Emmert-Buck MR

更新日期：2001-05-01 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