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Molecular Diagnosis & Therapy

Ashvini Keshavan, Amanda Heslegrave, Henrik Zetterberg, Jonathan M Schott
Biomarkers in Alzheimer's disease (AD) have the potential to allow early and more accurate diagnosis, predict disease progression, stratify individuals and track response to candidate therapies in drug trials. The first fluid biomarkers reflecting aspects of AD neuropathology were identified in cerebrospinal fluid (CSF) in the 1990s. Three CSF biomarkers (amyloid-β 1-42, total tau and phospho-tau) have consistently been shown to have diagnostic utility and are incorporated into the new diagnostic criteria for AD...
October 13, 2016: Molecular Diagnosis & Therapy
Cinzia Ciccacci, Cristina Politi, Livia Biancone, Andrea Latini, Giuseppe Novelli, Emma Calabrese, Paola Borgiani
BACKGROUND: Inflammatory bowel diseases (IBDs), including Crohn's disease (CD) and ulcerative colitis (UC), are multifactorial disorders that result from a dysregulated inflammatory response to environmental factors in genetically predisposed individuals. Recently, microRNAs (miRNAs) have been shown to be involved in the development of IBDs. AIMS: We investigated common variants in five miRNA genes in a cohort of Italian IBD patients, to evaluate their possible role in the disease's susceptibility and phenotype manifestations...
October 7, 2016: Molecular Diagnosis & Therapy
Priya Samuel, David Raul Francisco Carter
Ovarian cancer causes more than 100,000 deaths globally per year. Despite intensive research efforts, there has been little improvement in the overall survival of patients over the past three decades. Most patients are not diagnosed until the cancer is at an advanced stage, by which time their chances of still being alive after 5 years are appallingly low. Attempts to extend life in these patients have been, for the most part, unsuccessful. This owes partly to the lack of suitable biomarkers for stratifying patients at the molecular level, into responders and non-responders...
October 7, 2016: Molecular Diagnosis & Therapy
Jonathan R Thompson, Jing Zhu, Deepak Kilari, Liang Wang
Extracellular RNAs consist of coding and non-coding transcripts released from all cell types, which are involved in multiple cellular processes, predominantly through regulation of gene expression. Recent advances have helped us better understand the functions of these molecules, particularly microRNAs (miRNAs). Numerous pre-clinical and human studies have demonstrated that miRNAs are dysregulated in cancer and contribute to tumorigenesis and metastasis. miRNA profiling has extensively been evaluated as a non-invasive method for cancer diagnosis, prognostication, and assessment of response to cancer therapies...
September 29, 2016: Molecular Diagnosis & Therapy
Eeva Auvinen
Virology is probably the most rapidly developing field within clinical laboratory medicine. Adequate diagnostic methods exist for the diagnostics of most acute viral infections. However, emergence of pathogenic viruses or virus strains and new disease associations of known viruses require the establishment of new diagnostic methods, sometimes very rapidly. In the field of chronic or persistent viral diseases, particularly those involving potential of malignant or fatal development, there is a constant need for improved differential diagnostics, monitoring, prognosis and risk assessment...
September 28, 2016: Molecular Diagnosis & Therapy
John Cogswell, H David Inzunza, Qiuyan Wu, John N Feder, Gabe Mintier, James Novotny, Diana M Cardona
AIM: Nivolumab, a fully human immunoglobulin G4 programmed death-1 (PD-1) immune checkpoint inhibitor antibody, has activity in melanoma, non-small-cell lung cancer (NSCLC), renal cell carcinoma (RCC), and Hodgkin lymphoma. Nivolumab is approved in the USA and EU for advanced melanoma, NSCLC, and RCC, and relapsed Hodgkin lymphoma in the USA. Programmed death-ligand 1 (PD-L1), a PD-1 ligand, is expressed on mononuclear leukocytes, myeloid cells, and tumor cells. PD-L1 is being investigated as a potential biomarker to predict the association of tumor PD-L1 expression with nivolumab efficacy...
September 26, 2016: Molecular Diagnosis & Therapy
Patricia Berber, Felix Grassmann, Christina Kiel, Bernhard H F Weber
Age-related macular degeneration (AMD) is the primary cause of blindness in developed countries, and is the third leading cause worldwide. Emerging evidence suggests that beside environmental and genetic factors, epigenetic mechanisms, such as microRNA (miRNA) regulation of gene expression, are relevant to AMD providing an exciting new avenue for research and therapy. MiRNAs are short, non-coding RNAs thought to be imperative for coping with cellular stress. Numerous studies have analyzed miRNA dysregulation in AMD patients, although with varying outcomes...
September 23, 2016: Molecular Diagnosis & Therapy
Ana Rosa Vieira Melo, Amanda Ramos, Nadiya Kazachkova, Mafalda Raposo, Bruno Filipe Bettencourt, Ana Rita Rendeiro, Teresa Kay, João Vasconcelos, Jácome Bruges-Armas, Manuela Lima
INTRODUCTION AND OBJECTIVE: Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) disorder for which the routine molecular testing is based on PCR and automated capillary electrophoresis. When only a normal allele is detected by standard PCR, the hypothesis of a failed amplification of the expanded allele must be raised. In such cases, complementary techniques such as Southern Blot or triplet repeat primed PCR (TP-PCR) have to be applied. For SCA3, TP-PCR is implemented in some diagnostic laboratories, but a tested protocol has yet to be published...
September 20, 2016: Molecular Diagnosis & Therapy
Malia S Q Murphy, Chandrakant Tayade, Graeme N Smith
Pre-eclampsia (PE) is a common hypertensive disorder of pregnancy with a significant impact on maternal and neonatal mortality and morbidity. While the pathogenesis of PE has been well described, identification of a biomarker(s) with robust predictive utility in identifying women at the highest risk of developing the condition has yet to be identified. In the search for diagnostic markers, those that may be obtained from the circulation are preferred alternatives to those derived from organ tissue samples. Because of their stability in plasma, microRNAs (miRNAs) have been explored as biomarkers in a host of disease states, although there is comparably little literature available on the circulating miRNAome of PE...
September 16, 2016: Molecular Diagnosis & Therapy
Margien L Seinen, Geerten P van Nieuw Amerongen, Nanne K H de Boer, Adriaan A van Bodegraven
The incidence and prevalence of inflammatory bowel disease (IBD) are increasing. Although the etiology of IBD is unknown, it is thought that genetically susceptible individuals display an inappropriate inflammatory response to commensal microbes, resulting in intestinal tissue damage. Key proteins involved in regulating the immune response, and thus in inflammation, are the small triphosphate-binding protein Rac and its regulatory network. Recent data suggest these proteins to be involved in (dys)regulation of the characteristic inflammatory processes in IBD...
September 7, 2016: Molecular Diagnosis & Therapy
Javier C Angulo, Jose I López, Santiago Ropero
Urologic malignancies are some of the commonest tumors often curable when diagnosed at early stage. However, accurate diagnostic markers and faithful predictors of prognosis are needed to avoid over-diagnosis leading to overtreatment. Many promising exploratory studies have identified epigenetic markers in urinary malignancies based on DNA methylation, histone modification and non-coding ribonucleic acid (ncRNA) expression that epigenetically regulate gene expression. We review and discuss the current state of development and the future potential of epigenetic biomarkers for more accurate and less invasive detection of urological cancer, tumor recurrence and progression of disease serving to establish diagnosis and monitor treatment efficacies...
August 9, 2016: Molecular Diagnosis & Therapy
Nina Petrovic, Radoslav Davidovic, Snezana Jovanovic-Cupic, Milena Krajnovic, Silvana Lukic, Milan Petrovic, Jelena Roganovic
BACKGROUND: Breast cancer (BC) is a heterogeneous group of diseases that still represents a major cause of death in the female population. MicroRNAs (miRNAs, miRs), such as miR-221 and miR-222, have been shown to be involved in BC pathology by acting via its target genes such as tissue inhibitor of metalloproteinase 3 (TIMP3). OBJECTIVES: The main goals of this study were to find differences in miR-221/222 levels of expression in BC groups based on invasiveness, and to investigate the association with estrogen receptor (ER), TIMP3 messenger RNA (mRNA) levels, and clinicopathological characteristics of patients and tumors...
August 3, 2016: Molecular Diagnosis & Therapy
Zhenjun Deng, Jingang Hao, Dongyun Lei, Yongjing He, Lechun Lu, Li He
Melanoma is a common skin cancer associated with ultraviolet light exposure and genetic variance. However, the etiology and molecular mechanisms of melanoma remain unknown. Recent studies have shown that microRNAs (miRNAs) can play key roles in the development and prognosis of this disease. In this study, we reviewed several pivotal miRNAs that may contribute to melanoma by involvement in the processes of invasion, migration, and metastasis of melanoma cells.
October 2016: Molecular Diagnosis & Therapy
Matthijs Vynck, Wim Trypsteen, Olivier Thas, Linos Vandekerckhove, Ward De Spiegelaere
Driven by its potential benefits over currently available methods, and the recent development of commercial platforms, digital polymerase chain reaction (dPCR) has received increasing attention in virology research and diagnostics as a tool for the quantification of nucleic acids. The current technologies are more precise and accurate, but may not be much more sensitive, compared with quantitative PCR (qPCR) applications. The most promising applications with the current technology are the analysis of mutated sequences, such as emerging drug-resistant mutations...
October 2016: Molecular Diagnosis & Therapy
Mingting Liang, Ying Pang, Shuguang Zhang, Mei Zhang
OBJECTIVE: The goal of this study was to determine plasma levels of hepatocyte growth factor (HGF) in patients with pulmonary artery hypertension (PAH), and to explore the diagnostic value of plasma HGF for PAH. METHODS: Sixty subjects were divided into a control group of healthy individuals (N = 15) and a PAH group (N = 45). The PAH group was divided into three groups (N = 15 each) according to disease severity: mild PAH (group L), moderate PAH (group M), and severe PAH (group H)...
October 2016: Molecular Diagnosis & Therapy
Karl Haslam, Mark A Catherwood, Edwina Dobbin, Anne Sproul, Stephen E Langabeer, Ken I Mills
INTRODUCTION: Acute myeloid leukemia (AML) is a heterogeneous clonal disorder often associated with dismal overall survival. The clinical diversity of AML is reflected in the range of recurrent somatic mutations in several genes, many of which have a prognostic and therapeutic value. Targeted next-generation sequencing (NGS) of these genes has the potential for translation into clinical practice. In order to assess this potential, an inter-laboratory evaluation of a commercially available AML gene panel across three diagnostic centres in the UK and Ireland was performed...
October 2016: Molecular Diagnosis & Therapy
Lindsay N Strotman, Lori M Millner, Roland Valdes, Mark W Linder
There is a profound need in oncology to detect cancer earlier, guide individualized therapies, and better monitor progress during treatment. Currently, some of this information can be achieved through solid tissue biopsy and imaging. However, these techniques are limited because of the invasiveness of the procedure and the size of the tumor. A liquid biopsy can overcome these barriers as its non-invasive nature allows samples to be collected over time. Liquid biopsies may also allow earlier detection than traditional imaging...
October 2016: Molecular Diagnosis & Therapy
Kapil Bandil, Pallavi Singhal, Upma Sharma, Showket Hussain, Surojit Basu, Aditya Parashari, Veena Singh, Ashok Sehgal, Animesh Shivam, Puneet Ahuja, Mausumi Bharadwaj, Basu Dev Banerjee, Ravi Mehrotra
BACKGROUND AND OBJECTIVES: To investigate a potential association between single-nucleotide polymorphisms (SNPs) and  haplotypes at the TNFA-LTA locus and the development of oral cancer in an Indian population. MATERIALS AND METHODS: In this study, 150 oral precancer/cancer samples (50 precancer and 100 cancer), along with an equal number of control samples, were genotyped. Six SNPs at the TNF-LTA locus (i.e., -238G/A, -308G/A, -857C/T, -863C/A, -1031T/C, and +252A/G) were analyzed by use of a polymerase chain reaction-restriction fragment length polymorphism method, the assay was validated by sequencing 10 % of samples...
October 2016: Molecular Diagnosis & Therapy
Marzena Skrzypczak-Zielinska, Pawel Borun, Anna Bartkowiak-Kaczmarek, Oliwia Zakerska-Banaszak, Michal Walczak, Agnieszka Dobrowolska, Mateusz Kurzawski, Malgorzata Waszak, Daniel Lipinski, Andrzej Plawski, Ryszard Slomski
Thiopurine methyltransferase (TPMT) and inosine triphosphatase (ITPA) are crucial enzymes involved in the metabolism of thiopurine drugs: azathioprine and 6-mercaptopurine, used in the treatment of leukemia or inflammatory bowel diseases (IBD). The activity in these enzymes correlates with the genetic polymorphism of the TPMT and ITPA genes, respectively, which determines an individual reaction and dosing of thiopurines. Three main TPMT alleles: TPMT*2 (c.238G>C), TPMT*3A (c.460G>A, c.719A>G) and TPMT*3C (c...
October 2016: Molecular Diagnosis & Therapy
Ana Gorostidi, José Félix Martí-Massó, Alberto Bergareche, Mari Cruz Rodríguez-Oroz, Adolfo López de Munain, Javier Ruiz-Martínez
BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disorder, affecting millions of people. Genome-wide association studies (GWAS) have found >25 genetic risk factors and at least 15 loci directly associated with PD. Recent advances in new next-generation DNA sequencing technologies, such as the semiconductor-based Ion Torrent platform, make multigene sequencing cheaper, faster, and more reliable. OBJECTIVES: Our objective was to test the power of this next-generation sequencing technology to analyze large samples by screening the majority of the most relevant PD-related genes known for single and compound mutations...
October 2016: Molecular Diagnosis & Therapy
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