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Molecular Diagnosis & Therapy

Monika Migdalska-Sęk, Karolina H Czarnecka, Michał Kusiński, Dorota Pastuszak-Lewandoska, Ewa Nawrot, Krzysztof Kuzdak, Ewa Brzeziańska-Lasota
BACKGROUND: Loss of heterozygosity (LOH) and microsatellite instability (MSI) are frequent molecular events in thyroid tumor etiopathogenesis occurring in several chromosomal critical areas, including 3p12-25.3, 7q21-31, 10q22-24, and 15q11-13, with loci of tumor suppressor genes. OBJECTIVE: We evaluated the usefulness of LOH/MSI as a diagnostic/prognostic biomarker in lesions derived from thyroid follicular cells: follicular thyroid carcinoma (FTC); follicular adenoma (FA), papillary thyroid carcinoma (PTC), and nodular goiter (NG)...
February 11, 2019: Molecular Diagnosis & Therapy
Hersh A Ham-Karim, Henry Okuchukwu Ebili, Kirsty Manger, Wakkas Fadhil, Narmeen S Ahmad, Susan D Richman, Mohammad Ilyas
BACKGROUND: Mutation testing in the context of neoadjuvant therapy must be performed on biopsy samples. Given the issue of tumour heterogeneity, this raises the question of whether the biopsies are representative of the whole tumour. Here we have compared the mutation profiles of colorectal biopsies with their matched resection specimens. METHODS: We performed next-generation sequencing (NGS) analysis on 25 paired formalin-fixed, paraffin-embedded colorectal cancer biopsy and primary resection samples...
February 11, 2019: Molecular Diagnosis & Therapy
Madhav Madurantakam Royam, Chellan Kumarasamy, Siddhartha Baxi, Ajay Gupta, Nachimuthu Ramesh, Gothandam Kodiveri Muthukaliannan, Rama Jayaraj
BACKGROUND: Findings from observational clinical studies examining the relationship between biomarker expression and theranosis in colorectal cancer (CRC) have been conflicting. OBJECTIVE: We conducted this systematic review and meta-analysis to summarise the existing evidence to demonstrate the involvement of microRNAs (miRNAs) in chemoresistance and sensitivity in CRC through drug genetic pathways. METHODS: Using PRISMA guidelines, we systematically searched PubMed and Science Direct for relevant studies that took place between 2012 and 2017...
February 6, 2019: Molecular Diagnosis & Therapy
Elena Shipitsyna, Anna Krysanova, Guzel Khayrullina, Kira Shalepo, Alevtina Savicheva, Alexander Guschin, Magnus Unemo
BACKGROUND: Bacterial vaginosis (BV) is a vaginal disorder characterized by a depletion of the normal lactobacillus-dominant microbiota and overgrowth of mainly anaerobic bacteria. OBJECTIVES: The study aimed to evaluate the distribution and abundance of the Gardnerella vaginalis clades and sialidase A gene in vaginal samples from Russian women, and investigate if the G. vaginalis sialidase A gene count detects an abnormal vaginal microbiota characteristic of BV more accurately than G...
February 5, 2019: Molecular Diagnosis & Therapy
Eleni Katsantoni
Hemoglobinopathies include all genetic diseases of hemoglobin and are grouped into thalassemia syndromes and structural hemoglobin variants. The β-thalassemias constitute a group of severe anemias with monogenic inheritance, caused by β-globin gene mutations. This review is focused on omics studies in hemoglobinopathies and mainly β-thalassemia, and discusses genomic, epigenomic, transcriptomic, proteomic and metabolomic findings. Omics analyses have identified various disease modifiers with an impact on disease severity and efficacy of treatments...
February 2, 2019: Molecular Diagnosis & Therapy
Giulia Breveglieri, Elisabetta D'Aversa, Alessia Finotti, Monica Borgatti
Non-invasive prenatal diagnosis (NIPD) is based on fetal DNA analysis starting from a simple peripheral blood sample, thus avoiding risks associated with conventional invasive techniques. During pregnancy, the fetal DNA increases to approximately 3-13% of the total circulating free DNA in maternal plasma. The very low amount of circulating cell-free fetal DNA (ccffDNA) in maternal plasma is a crucial issue, and requires specific and optimized techniques for ccffDNA purification from maternal plasma. In addition, highly sensitive detection approaches are required...
February 2, 2019: Molecular Diagnosis & Therapy
Valentina Ghiaccio, Maxwell Chappell, Stefano Rivella, Laura Breda
Inherited monogenic disorders such as beta-hemoglobinopathies (BH) are fitting candidates for treatment via gene therapy by gene transfer or gene editing. The reported safety and efficacy of lentiviral vectors in preclinical studies have led to the development of several clinical trials for the addition of a functional beta-globin gene. Across trials, dozens of transfusion-dependent patients with sickle cell disease (SCD) and transfusion-dependent beta-thalassemia (TDT) have been treated via gene therapy and have achieved reduced transfusion requirements...
January 30, 2019: Molecular Diagnosis & Therapy
Kai Tao, Shipeng Guo, Rui Chen, Chengcheng Yang, Lei Jian, Haochen Yu, Shengchun Liu
BACKGROUND AND OBJECTIVE: Lysophosphatidic acid (LPA) has widely been reported to participate in the numerous biological behaviors of tumors through its receptors. LPA receptor 6 (LPAR6) is a newly identified G protein-coupled receptor of LPA, and few studies have explored the role of LPAR6 in cancer. In breast cancer (BC), LPAR6 has not, as yet, been studied. This study aimed to evaluate LPAR6 expression in BC patients and to explore its possible role in BC. METHODS: A total of 98 pairs of clinical BC and para-cancer tissues were collected, and LPAR6 expression was evaluated by quantitative real-time polymerase chain reaction (qRT-PCR)...
January 29, 2019: Molecular Diagnosis & Therapy
Alessia Finotti, Enrica Fabbri, Ilaria Lampronti, Jessica Gasparello, Monica Borgatti, Roberto Gambari
Since the discovery and classification of non-coding RNAs, their roles have gained great attention. In this respect, microRNAs and long non-coding RNAs have been firmly demonstrated to be linked to regulation of gene expression and onset of human diseases, including rare genetic diseases; therefore they are suitable targets for therapeutic intervention. This issue, in the context of rare genetic diseases, is being considered by an increasing number of research groups and is of key interest to the health community...
January 4, 2019: Molecular Diagnosis & Therapy
Jie Zhang, Charles N J McGhee, Dipika V Patel
Fuchs' endothelial corneal dystrophy (FECD) is a common disease resulting from corneal endothelial cell dysfunction. It is inherited in an autosomal dominant fashion with incomplete penetrance, and with a female bias. Approximately half of cases occur sporadically, and the remainder are familial. Early and late-onset forms of the disease exist. A review of the literature has revealed more than 15 genes harbouring mutations and/or single nucleotide polymorphisms associated with FECD. The proteins encoded by these genes cover a wide range of endothelial function, including transcription regulation, DNA repair, mitochondrial DNA mutations, targeting of proteins to the cell membrane, deglutamylation of proteins, extracellular matrix secretion, formation of cell-cell and cell-extracellular matrix junctions, water pump, and apoptosis...
January 3, 2019: Molecular Diagnosis & Therapy
Lechun Lyu, Yu Zhao, Hongquan Lu, Zijie Liu, Jiazhi Guo, Di Lu, Xiang Li
Keloids are a common dermal pathological disorder characterized by the excessive deposition of extracellular matrix components; however, the exact pathogenesis of the disease is still not clear. Studies increasingly suggest that microRNAs (miRNAs) can play a key role in the process of keloid scarring. In this study, the valuable miRNAs and target genes were screened and the interaction network was constructed. We also predicted target genes of reported miRNAs using TargetScan and miRTarBase software. Cytoscape 3...
January 2, 2019: Molecular Diagnosis & Therapy
Galaxy Y Cho, Kyle Bolo, Karen Sophia Park, Jesse D Sengillo, Stephen H Tsang
Inherited retinal dystrophies cause progressive vision loss and are major contributors to blindness worldwide. Advances in gene therapy have brought molecular approaches into the realm of clinical trials for these incurable illnesses. Select phase I, II and III trials are complete and provide some promise in terms of functional outcomes and safety, although questions do remain over the durability of their effects and the prevalence of inflammatory reactions. This article reviews gene therapy as it can be applied to inherited retinal dystrophies, provides an update of results from recent clinical trials, and discusses the future prospects of gene therapy and genome surgery...
December 19, 2018: Molecular Diagnosis & Therapy
Katarzyna Kamińska, Ewelina Nalejska, Marta Kubiak, Joanna Wojtysiak, Łukasz Żołna, Janusz Kowalewski, Marzena Anna Lewandowska
Epigenetic patterns, such as DNA methylation, histone modifications, and non-coding RNAs, can be both driver factors and characteristic features of certain malignancies. Aberrant DNA methylation can lead to silencing of crucial tumor suppressor genes or upregulation of oncogene expression. Histone modifications and chromatin spatial organization, which affect transcription, regulation of gene expression, DNA repair, and replication, have been associated with multiple tumors. Certain microRNAs (miRNAs), mainly those that silence tumor suppressor genes and occur in a greater number of copies, have also been shown to promote oncogenesis...
December 6, 2018: Molecular Diagnosis & Therapy
Roberta Rizza, Karl Hackmann, Ida Paris, Angelo Minucci, Rossella De Leo, Evelin Schrock, Andrea Urbani, Ettore Capoluongo, Gianfranco Gelli, Paola Concolino
BACKGROUND: In recent years, the number of patients being offered BRCA1/2 testing has changed dramatically. Advances in high-throughput sequencing technology have led many diagnostic laboratories to test next-generation sequencing (NGS)-based platforms as the main technology for clinical testing. As a consequence, the proportion of novel BRCA1/2 variants detected has greatly increased. Here, we describe two novel BRCA1 large deletions detected in Italian patients affected by hereditary breast and ovarian cancer syndrome (HBOC)...
December 1, 2018: Molecular Diagnosis & Therapy
Eitan Fibach, Mutaz Dana
Cell oxidative status, which represents the balance between oxidants and antioxidants, is involved in normal functions. Under pathological conditions, there is a shift toward the oxidants, leading to oxidative stress, which is cytotoxic, causing oxidation of cellular components that result in cell death and organ damage. Thalassemia is a hereditary hemolytic anemia caused by mutations in globin genes that cause reduced or complete absence of specific globin chains (commonly, α or β). Although oxidative stress is not the primary etiology of thalassemia, it mediates several of its pathologies...
November 27, 2018: Molecular Diagnosis & Therapy
Giulio Cabrini
Cystic fibrosis (CF), a life-threatening multiorgan genetic disease, is facing a new era of research and development using innovative gene-directed personalized therapies. The priority organ to cure is the lung, which suffers recurrent and chronic bacterial infection and inflammation since infancy, representing the main cause of morbidity and precocious mortality of these individuals. After the disappointing failure of gene-replacement approaches using gene therapy vectors, no single drug is presently available to repair all the CF gene defects...
November 26, 2018: Molecular Diagnosis & Therapy
Stephan Menzel, Swee Lay Thein
Fetal haemoglobin (HbF) levels have a clinically beneficial effect on sickle cell disease (SCD). Patients with SCD demonstrate extreme variability in HbF levels (1-30%), a large part of which is likely genetically determined. The main genetic modifier loci for HbF persistence, HBS1L-MYB, BCL11A and the β-globin gene cluster in adults also act in SCD patients. Their effects are, however, modified significantly by a disease pathology that includes a drastically shortened erythrocyte lifespan with an enhanced survival of those red blood cells that carry HbF (F cells)...
November 26, 2018: Molecular Diagnosis & Therapy
Lisa M Giles, David L Cooper
No abstract text is available yet for this article.
December 2018: Molecular Diagnosis & Therapy
Guomin Ren, Roman J Krawetz
BACKGROUND: There is a desperate need for the reliable detection of osteoarthritis (OA) at the early stage when patients are likely to benefit most from disease interventions. A variety of biochemical markers have been proposed, but their reliability varies among studies. OBJECTIVE: In this review, we aimed to answer the following questions: (1) are there biochemical markers that are differentially expressed in early OA versus healthy subjects, and (2) if so, what is the diagnostic value of these biomarkers for early OA? METHODS: Embase, PubMed, and Web of Science were searched to obtain all relevant studies up to March 2018, and studies comparing the biochemical markers between early OA and healthy controls were selected...
December 2018: Molecular Diagnosis & Therapy
Anup S Mathew, Xuyang Shi, Siu-Tung Yau
BACKGROUND: The detection of minute amounts of protein biomarkers in body fluids is believed to provide early diagnosis and prognosis of mild traumatic brain injury (mTBI). An ultrasensitive detection method was used to detect S100B, the most studied potential marker for the diagnosis of mTBI. METHODS: The detection method was a modified electrochemical immunoassay technique that provides voltage controlled intrinsic current signal amplification. The sandwich immune complex of S100B was formed on the working electrode of the screen-printed electrode...
December 2018: Molecular Diagnosis & Therapy
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