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Molecular Diagnosis & Therapy

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https://www.readbyqxmd.com/read/28101802/cold-pcr-technologies-in-the-area-of-personalized-medicine-methodology-and-applications
#1
REVIEW
Florence Mauger, Alexandre How-Kit, Jörg Tost
Somatic mutations bear great promise for use as biomarkers for personalized medicine, but are often present only in low abundance in biological material and are therefore difficult to detect. Many assays for mutation analysis in cancer-related genes (hotspots) have been developed to improve diagnosis, prognosis, prediction of drug resistance, and monitoring of the response to treatment. Two major approaches have been developed: mutation-specific amplification methods and methods that enrich and detect mutations without prior knowledge on the exact location and identity of the mutation...
January 18, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28044257/targeted-therapy-for-severe-asthma-identifying-the-right-patients
#2
Kathy Low, Philip G Bardin
Asthma affects over 300 million people worldwide. Most asthmatics are well controlled with inhaled corticosteroids and long-acting beta-agonists; however, a proportion of patients are unresponsive and attain limited disease control. This group represents a considerable healthcare and financial burden, particularly patients who experience frequent exacerbations and require hospital admission. Development of new biological agents and disease biomarkers has provided novel avenues for treatment. These treatments have been highly successful, reducing exacerbations and yielding modest improvements in quality of life and lung function...
January 2, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28039579/discordance-of-somatic-mutations-between-asian-and-caucasian-patient-populations-with-gastric-cancer
#3
Feifei Jia, Jamie K Teer, Todd C Knepper, Jae K Lee, Hong-Hao Zhou, Yi-Jing He, Howard L McLeod
BACKGROUND: Differences in response to cancer treatments have been observed among racially and ethnically diverse gastric cancer (GC) patient populations. In the era of targeted therapy, mutation profiling of cancer is a crucial aspect of making therapeutic decisions. Mapping driver gene mutations for the GC patient population as a whole has significant potential to advance precision therapy. METHODS: GC patients with sequencing data (N = 473) were obtained from The Cancer Genome Atlas (TCGA; n = 295), Moffitt Cancer Center Total Cancer Care™ (TCC; n = 33), and three published studies (n = 145)...
December 30, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28039578/the-importance-of-standardization-on-analyzing-circulating-rna
#4
REVIEW
Inyoul Lee, David Baxter, Min Young Lee, Kelsey Scherler, Kai Wang
Circulating RNAs, especially microRNAs (miRNAs), have recently emerged as non-invasive disease biomarkers. Despite enthusiasm and numerous reports on disease-associated circulating miRNAs, currently there is no circulating miRNA-based diagnostic in use. In addition, there are many contradictory reports on the concentration changes of specific miRNA in circulation. Here we review the impact of various technical and non-technical factors related to circulating miRNA measurement and elucidate the importance of having a general guideline for sample preparation and concentration measurement in studying circulating RNA...
December 30, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28000172/implementation-of-a-precision-pathology-program-focused-on-oncology-based-prognostic-and-predictive-outcomes
#5
Michael J Donovan, Carlos Cordon-Cardo
Personalized or precision medicine as a diagnostic and therapeutic paradigm was introduced some 10-15 years ago, with the advent of biomarker discovery as a mechanism for identifying prognostic and predictive attributes associated with treatment indication and outcome. While the concept is not new, the successful development and implementation of novel 'companion diagnostics', especially in oncology, continues to represent a significant challenge and is currently at the forefront of smart trial design and therapeutic choice...
December 20, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/27995550/somatic-mutations-in-prostate-cancer-closer-to-personalized-medicine
#6
REVIEW
M J Alvarez-Cubero, L J Martinez-Gonzalez, I Robles-Fernandez, J Martinez-Herrera, G Garcia-Rodriguez, M Pascual-Geler, J M Cozar, J A Lorente
The molecular cause of prostate cancer (PCa) is still unclear; however, its progression involves androgen, PI3K/Akt, and PTEN signaling, as cycle and apoptotic pathways. Alterations in oncogenes and tumor suppressor genes as PIK3CA, BRAF, KRAS and TP53 are not very common. Recently, somatic mutations have been discovered in relation to cancer progression mainly in genes such as PIK3CA; however, little data has been described in PCa. Nowadays genetic tools allow us to investigate multiple details about the biological heterogeneity of PCa, to better understand the mechanisms of disease progression and treatment resistance...
December 19, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/27905021/netherton-syndrome-a-genotype-phenotype-review
#7
REVIEW
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
https://www.readbyqxmd.com/read/27878475/epigenetic-biomarkers-in-colorectal-cancer
#8
REVIEW
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
https://www.readbyqxmd.com/read/27878474/quantitative-assessment-of-cyp2c9-genetic-polymorphisms-effect-on-the-oral-clearance-of-s-warfarin-in-healthy-subjects
#9
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
https://www.readbyqxmd.com/read/27838884/cell-free-fetal-dna-for-the-prediction-of-pre-eclampsia-at-the-first-and-second-trimesters-a-systematic-review-and-meta-analysis
#10
REVIEW
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
https://www.readbyqxmd.com/read/27826735/acknowledgement-to-referees
#11
(no author information available yet)
No abstract text is available yet for this article.
November 8, 2016: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/27798813/economic-evaluation-of-a-pharmacogenomics-test-for-statin-induced-myopathy-in-cardiovascular-high-risk-patients-initiating-a-statin
#12
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
https://www.readbyqxmd.com/read/27604084/rac-attack-modulation-of-the-small-gtpase-rac-in-inflammatory-bowel-disease-and-thiopurine-therapy
#13
REVIEW
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
https://www.readbyqxmd.com/read/27435702/long-term-safety-follow-up-of-subjects-previously-treated-with-non-replicating-retroviral-vector-based-gene-therapies
#14
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
https://www.readbyqxmd.com/read/27738910/blood-biomarkers-for-alzheimer-s-disease-much-promise-cautious-progress
#15
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
https://www.readbyqxmd.com/read/27718165/polymorphisms-in-mir122-mir196a2-and-mir124a-genes-are-associated-with-clinical-phenotypes-in-inflammatory-bowel-diseases
#16
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
https://www.readbyqxmd.com/read/27718164/the-diagnostic-and-prognostic-potential-of-micrornas-in-epithelial-ovarian-carcinoma
#17
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
https://www.readbyqxmd.com/read/27351922/pivotal-micrornas-in-melanoma-a-mini-review
#18
REVIEW
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
https://www.readbyqxmd.com/read/27351921/the-future-of-digital-polymerase-chain-reaction-in-virology
#19
REVIEW
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
https://www.readbyqxmd.com/read/27342109/utility-of-hepatocyte-growth-factor-as-a-biomarker-for-early-diagnosis-of-pulmonary-artery-hypertension
#20
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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