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Molecular Diagnosis & Therapy

Constantina A Sarri, Angeliki Roussaki-Schulze, Yiannis Vasilopoulos, Efterpi Zafiriou, Aikaterini Patsatsi, Costas Stamatis, Polyxeni Gidarokosta, Dimitrios Sotiriadis, Theologia Sarafidou, Zissis Mamuris
Netherton syndrome (OMIM #256500) is a rare but severe autosomal recessive form of ichthyosis that affects the skin, hair, and immune system. The identification of SPINK5, which encodes for the serine protease inhibitor LEKTI, as the gene responsible for Netherton syndrome, enabled the search for causative mutations in Netherton syndrome patients and families. However, information regarding these mutations and their association with the pathological Netherton syndrome phenotype is scarce. Herein, we provide an up-to-date overview of 80 different mutations in exonic as well as intronic regions that have been currently identified in 172 homozygous or compound heterozygous patients from 144 families...
November 30, 2016: Molecular Diagnosis & Therapy
Mukesh Verma, Vineet Kumar
Developments in the diagnosis and treatment of colorectal cancer (CRC) have been made in the last decade, but the overall survival rate of patients with CRC has not improved dramatically. Genetic and epigenetic events contribute to CRC pathogenesis. Tumor heterogeneity results in a range of prognoses and responses to CRC management and therapy. Epigenetic biomarkers have potential in CRC diagnosis and in measuring response to therapy. Combining information from genetic and epigenetic alterations provides an opportunity to predict response to therapy...
November 22, 2016: Molecular Diagnosis & Therapy
Chanan Shaul, Simcha Blotnick, Mordechai Muszkat, Meir Bialer, Yoseph Caraco
BACKGROUND: Genetic polymorphisms in CYP2C9 account for 10-20% of the variability in warfarin dose requirement. As such CYP2C9 genetic polymorphisms are commonly included in algorithms aimed to optimize warfarin therapy as a way to account for variability in warfarin responsiveness that is due to altered pharmacokinetics. However, most of the currently available pharmacokinetic data were derived from studies among patients on chronic warfarin therapy and therefore suffer from the confounding effects of disease states and drug interactions...
November 22, 2016: Molecular Diagnosis & Therapy
Elena Contro, Dalila Bernabini, Antonio Farina
OBJECTIVE: A systematic review and pooled analysis was carried out to estimate whether the increase in the quantity of cell-free fetal DNA (cffDNA) before the onset of pre-eclampsia (PE) can predict the disease using real-time polymerase chain reaction (PCR). METHOD: A comprehensive literature search of the PubMed, Scopus, and Web of Knowledge databases was conducted to identify relevant studies that included evaluated cffDNA levels in pregnant women before the clinical onset of PE...
November 12, 2016: Molecular Diagnosis & Therapy
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November 8, 2016: Molecular Diagnosis & Therapy
Dominic Mitchell, Jason R Guertin, Ange Christelle Iliza, Fiorella Fanton-Aita, Jacques LeLorier
BACKGROUND: Statins are the mainstay hypercholesterolemia treatment and reduce the risk of cardiovascular events in patients. However, statin therapy is often interrupted in patients experiencing musculoskeletal pain or myopathy, which are common in this patient group. Currently, the standard tests for diagnosing statin myopathies are difficult to interpret. A pharmacogenomics (PGx) test to diagnose statin-induced myopathy would be highly desirable. METHODS: We developed a Markov state model to assess the cost-effectiveness of a hypothetical PGx test, which aims to identify statin-induced myopathy in high-risk, secondary prevention cardiovascular patients...
October 31, 2016: 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...
December 2016: Molecular Diagnosis & Therapy
Ramon Mohanlal, Yuhong Qiu, Ming Zheng, Asmae Mirkou, Kanaka Sridharan, Christopher Keir
OBJECTIVE: Our objective was to evaluate the life-long safety profile of gene therapy using retroviral (non-replicating) vectors (nRCR), or cell products in 127 subjects with hemophilia, human immunodeficiency virus (HIV), or cancer, previously treated with such gene therapy. METHODS: We assessed the occurrence of serious adverse events (SAEs), deaths and presence of replication competent retrovirus (RCR). RESULTS: A total of 23 subjects remained until the data cut-off date of 31 July 2013 and provided safety information of up to 18 years...
December 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
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