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Molecular diagnostic methods

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https://www.readbyqxmd.com/read/28550479/biomolecular-diagnosis-of-myotonic-dystrophy-type-2-a-challenging-approach
#1
REVIEW
Giovanni Meola, Fiammetta Biasini, Rea Valaperta, Elena Costa, Rosanna Cardani
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common adult form of muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia, and multiorgan involvement. The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. Diagnostic delay in DM2 is due not only to the heterogeneous phenotype and the aspecific onset but also to the unfamiliarity with the disorder by most clinicians...
May 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28544683/comprehensive-genetic-study-of-cystic-fibrosis-in-slovak-patients-in-25-years-of-genetic-diagnostics
#2
Andrea Soltysova, Eva Tothova Tarova, Andrej Ficek, Marian Baldovic, Helena Polakova, Hana Kayserova, Ludevit Kadasi
INTRODUCTION: Cystic fibrosis (CF) has one of the longest histories in hereditary disease molecular diagnostics. However, identification of causative mutations in the CFTR gene is complicated by over two thousand currently identified mutations; with more still being discovered. Knowledge of mutation spectrum may improve effective routine diagnostics and is obligatory in mutation-specific treatment. OBJECTIVES: This study presents comprehensive mutation screening of the CFTR gene; with 275 unrelated, clinically confirmed and treated cystic fibrosis (CF) patients diagnosed in 25 years genetic testing in Slovakia...
May 20, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28542229/thermodynamic-framework-to-assess-low-abundance-dna-mutation-detection-by-hybridization
#3
Hanny Willems, An Jacobs, Wahyu Wijaya Hadiwikarta, Tom Venken, Dirk Valkenborg, Nadine Van Roy, Jo Vandesompele, Jef Hooyberghs
The knowledge of genomic DNA variations in patient samples has a high and increasing value for human diagnostics in its broadest sense. Although many methods and sensors to detect or quantify these variations are available or under development, the number of underlying physico-chemical detection principles is limited. One of these principles is the hybridization of sample target DNA versus nucleic acid probes. We introduce a novel thermodynamics approach and develop a framework to exploit the specific detection capabilities of nucleic acid hybridization, using generic principles applicable to any platform...
2017: PloS One
https://www.readbyqxmd.com/read/28541661/a-complementary-isothermal-amplification-method-to-the-us-epa-qpcr-approach-for-the-detection-of-enterococci-in-environmental-waters
#4
Claudia Kolm, Roland Martzy, Kurt Brunner, Robert L Mach, Rudolf Krska, Georg Heinze, Regina Sommer, Georg H Reischer, Andreas H Farnleitner
We report a novel molecular assay, based on helicase-dependent amplification (HDA), for the detection of enterococci as markers for fecal pollution in water. This isothermal assay targets the same Enterococcus 23S rRNA gene region as the existing quantitative polymerase chain reaction (qPCR) assays of the US Environmental Protection Agency Methods 1611 and 1609 but can be entirely performed on a simple heating block. The developed Enterococcus HDA assay successfully discriminated 15 enterococcal from 15 non-enterococcal reference strains and reliably detected 48 environmental isolates of enterococci...
May 25, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28539346/rapid-and-accurate-molecular-identification-of-the-emerging-multidrug-resistant-pathogen-candida-auris
#5
Milena Kordalewska, Yanan Zhao, Shawn R Lockhart, Anuradha Chowdhary, Indira Berrio, David S Perlin
Candida auris is an emerging multidrug resistant fungal pathogen causing nosocomial and invasive infections associated with high mortality. C. auris is commonly misidentified as several different yeast species by commercially available phenotypic identification platforms. Thus, there is an urgent need for a reliable diagnostic method. In this paper we present fast, robust, easy to perform and interpret PCR and real-time PCR assays to identify C. auris and related species: Candida duobushaemulonii, Candida haemulonii, and Candida lusitaniae Targeting rDNA region nucleotide sequences, primers specific for C...
May 24, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28539342/multicenter-clinical-evaluation-of-the-luminex-aries%C3%A2-flu-a-b-rsv-assay-for-pediatric-and-adult-respiratory-tract-specimens
#6
Stefan Juretschko, James Mahony, Richard S Buller, Ryhana Manjj, Sherry Dunbar, Kimberly Walker, Arundhati Rao
Influenza A and B viruses and respiratory syncytial virus (RSV) are three common viruses implicated in seasonal respiratory tract infections and a major cause of morbidity and mortality in adults and children worldwide. In recent years, an increasing number of commercial molecular tests have become available to diagnose respiratory viral infections. The Luminex® ARIES® Flu A/B & RSV Assay is a fully automated sample-to-answer molecular diagnostic assay for the detection of influenza A, influenza B and RSV...
May 24, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28537807/next-generation-sequencing-identifies-gene-mutations-that-are-predictive-of-malignancy-in-residual-needle-rinses-collected-from-fine-needle-aspirations-of-thyroid-nodules
#7
Maren Y Fuller, Dina Mody, April Hull, Kristi Pepper, Heather Hendrickson, Randall Olsen
CONTEXT: - Thyroid nodules have a prevalence of approximately 70% in adults. Fine-needle aspiration (FNA) is a minimally invasive, cost-effective, standard method to collect tissue from thyroid nodules for cytologic examination. However, approximately 15% of thyroid FNA specimens cannot be unambiguously diagnosed as benign or malignant. OBJECTIVE: - To investigate whether clinically actionable data can be obtained using next-generation sequencing of residual needle rinse material...
May 24, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28536430/aetiology-of-acute-meningoencephalitis-in-cambodian-children-2010-2013
#8
Paul F Horwood, Veasna Duong, Denis Laurent, Channa Mey, Heng Sothy, Ky Santy, Beat Richner, Seiha Heng, Sopheak Hem, Justine Cheval, Christopher Gorman, Philippe Dussart, Menno D de Jong, Alexandra Kerleguer, Bertrand Guillard, Bernadette Murgue, Marc Lecuit, Xavier de Lamballerie, Jeremy J Farrar, Arnaud Tarantola, Marc Eloit, Philippe Buchy
Acute meningoencephalitis (AME) is associated with considerable morbidity and mortality in children in developing countries. Clinical specimens were collected from children presenting with AME at two Cambodian paediatric hospitals to determine the major aetiologies associated with AME in the country. Cerebrospinal fluid (CSF) and blood samples were screened by molecular and cell culture methods for a range of pathogens previously associated with AME in the region. CSF and serum (acute and convalescent) were screened for antibodies to arboviruses such as Japanese encephalitis virus (JEV), dengue virus (DENV), and chikungunya virus (CHIKV)...
May 24, 2017: Emerging Microbes & Infections
https://www.readbyqxmd.com/read/28534412/exploration-of-biogenic-nano-chemobiotics-fabricated-by-sliver-nanoparticle-and-galactoxyloglucan-with-an-efficient-bio-distribution-in-solid-tumor-investigated-by-sers-fingerprinting
#9
Manu M Joseph, Jyothi B Nair, Ramya N Adukkadan, Neethu Hari, Raveendran Pillai, Ananthakrishnan J Nair, Kaustabh Kumar Maiti, Sreelekha Therakathinal T
An incredible exploration of a dual modality nano composite wherein, chemotherapy in fusion with antibacterial efficacy obtained in a biogenic fabrication, which transformed as a novel nano-chemobiotics (NCB) prevailing fundamental molecular level investigation by surface enhanced Raman scattering (SERS) platform. The nano composite is a facile, robust and eco-friendly constitution between silver nanoparticles (SNPs) and a naturally occurring galactoxyloglucan (PST001) denoted as SNP@PST which displayed biocompatibility with an upgraded selective cytotoxicity towards cancer cells...
May 23, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28529630/spectroscopic-photoacoustic-molecular-imaging-of-breast-cancer-using-a-b7-h3-targeted-icg-contrast-agent
#10
Katheryne E Wilson, Sunitha V Bachawal, Lotfi Abou-Elkacem, Kristen Jensen, Steven Machtaler, Lu Tian, Jürgen K Willmann
Purpose: Breast cancer imaging methods lack diagnostic accuracy, in particular for patients with dense breast tissue, and improved techniques are critically needed. The purpose of this study was to evaluate antibody-indocyanine green (ICG) conjugates, which undergo dynamic absorption spectrum shifts after cellular endocytosis and degradation, and spectroscopic photoacoustic (sPA) imaging to differentiate normal breast tissue from breast cancer by imaging B7-H3, a novel breast cancer associated molecular target...
2017: Theranostics
https://www.readbyqxmd.com/read/28527412/early-stage-detection-of-ve-cadherin-during-endothelial-differentiation-of-human-mesenchymal-stem-cells-using-spr-biosensor
#11
Farzaneh Fathi, Aysa Rezabakhsh, Reza Rahbarghazi, Mohammad-Reza Rashidi
Surface plasmon resonance (SPR) biosensors are most commonly applied for real-time dynamic analysis and measurement of interactions in bio-molecular studies and cell-surface analysis without the need for labeling processes. Up to present, SPR application in stem cell biology and biomedical sciences was underused. Herein, a very simple and sensitive method was developed to evaluate human mesenchymal stem cells trans-differentiation to endothelial lineage of over a period of 14 days based on VE-cadherin biomarker...
May 10, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28526036/molecular-characterization-of-dirofilaria-spp-circulating-in-portugal
#12
Cátia Ferreira, Ana Afonso, Manuela Calado, Isabel Maurício, Ana Margarida Alho, José Meireles, Luís Madeira de Carvalho, Silvana Belo
BACKGROUND: Dirofilariosis is a potentially zoonotic parasitic disease, mainly transmitted by mosquito vectors in many parts of the world. Data concerning the canine Dirofilaria species currently circulating in Portugal is scarce. Thereby, a large-scale study was conducted to determine the Dirofilaria spp. present in Portugal, based on a molecular approach, and also to optimize a reliable and highly sensitive species-specific polymerase chain reaction (PCR) assay that could be used for the simultaneous detection and differentiation of Dirofilaria immitis, Dirofilaria repens, and other concurrent filarial species in animal reservoirs...
May 19, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28525941/environmental-contamination-with-staphylococcus-aureus-at-a-large-midwestern-university-campus
#13
Dipendra Thapaliya, Mohammed Taha, Mark R Dalman, Jhalka Kadariya, Tara C Smith
BACKGROUND: Staphylococcus aureus can cause minor to severe life-threatening infections. The changing epidemiology of S. aureus is of public health concern due to the emergence of multi-drug resistant (MDR) strains. Environmental surfaces play a crucial role in the transmission of S. aureus. The objective of this study was to examine environmental contamination and molecular characteristics of S. aureus in health professional-associated (HPA) and non-health professional-associated (NHPA) buildings at a large university...
May 15, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28525654/molecular-detection-by-analysis-of-the-16s-rrna-gene-of-fecal-coliform-bacteria-from-the-two-korean-apodemus-species-apodemus-agrarius-and-a-peninsulae
#14
M M Rahman, K B Yoon, S J Lim, M G Jeon, H J Kim, H Y Kim, J Y Cho, H M Chae, Y C Park
Wild mouse feces can disseminate zoonotic microorganisms throughout a farm, which is a great threat to human health and can lead to economic loss through contaminated agricultural produce. To assess the microbial communities, especially fecal coliform bacteria, we used two methods. First, we isolated bacterial colonies onto the common media LB (lactose broth) agar, TSA (tryptic soy agar), and MRS (de Man, Rogosa, and Sharpe) agar, and then randomly select colonies from each plate and stocked them to the mother plate for genomic DNA isolation...
May 18, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28524730/recent-advances-in-genetic-testing-for-familial-hypercholesterolemia
#15
Michael A Iacocca, Robert A Hegele
Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary heart disease that is widely underdiagnosed and undertreated. To improve the identification of FH and initiate timely and appropriate treatment strategies, genetic testing is becoming increasingly offered worldwide as a central part of diagnosis. Areas covered: Recent advances have been propelled by an improved understanding of the genetic determinants of FH together with substantially reduced costs of appropriate screening strategies...
May 19, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28523274/identification-of-braf-positive-cases-based-on-whole-slide-image-analysis
#16
Vlad Popovici, Aleš Křenek, Eva Budinská
A key requirement for precision medicine is the accurate identification of patients that would respond to a specific treatment or those that represent a high-risk group, and a plethora of molecular biomarkers have been proposed for this purpose during the last decade. Their application in clinical settings, however, is not always straightforward due to relatively high costs of some tests, limited availability of the biological material and time, and procedural constraints. Hence, there is an increasing interest in constructing tissue-based surrogate biomarkers that could be applied with minimal overhead directly to histopathology images and which could be used for guiding the selection of eventual further molecular tests...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28521628/cd36-positive-b-lymphoblasts-predict-poor-outcome-in-children-with-b-lymphoblastic-leukemia
#17
Joanna G Newton, John T Horan, Scott Newman, Michael R Rossi, Rhett P Ketterling, Sunita I Park
Objective We observed that pediatric patients with B lymphoblastic leukemia which expressed CD36 at diagnosis seemed to have worse outcome than patients whose blasts did not. Here, we describe the patient, disease characteristics, pathological, molecular, and genetic features and outcomes of patients with CD36+ B-LL compared to patients with CD36- B-LL. Methods We retrospectively reviewed all flow cytometry reports from September 2008 to December 2015 to identify patients diagnosed at our institution with CD36 expression on B lymphoblasts...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28520950/a-novel-economical-way-to-assess-virulence-in-field-populations-of-hessian-fly-diptera-cecidomyiidae-utilizing-wheat-resistance-gene-h13-as-a-model
#18
Alisha J Johnson, Hossam E M Abdel Moniem, Kathy L Flanders, G David Buntin, Francis P F Reay-Jones, Dominic Reisig, Jeffery J Stuart, Subhashree Subramanyam, Richard H Shukle, Brandon J Schemerhorn
Mayetiola destructor (Say) is a serious pest of wheat, Triticum aestivum L., in North America, North Africa, and Central Asia. Singly deployed resistance genes in wheat cultivars have provided effective management of Hessian fly populations for >50 yr. Thirty-five H genes have been documented. Defense mediated by the H gene constitutes strong selection on the Hessian fly population, killing 100% of larvae. A mutation in a matching Hessian fly avirulence gene confers virulence to the H gene, leading to survival on the resistant plant...
May 17, 2017: Journal of Economic Entomology
https://www.readbyqxmd.com/read/28513865/diagnosis-of-tuberculosis-in-hiv-co-infected-individuals-current-status-challenges-and-opportunities-for-the-future
#19
REVIEW
P Méndez-Samperio
Tuberculosis (TB) remains one of the most important causes of death amongst people co-infected with human immunodeficiency virus (HIV). The diagnosis of TB remains challenging in HIV co-infected individuals, due to a high frequency of smear-negative disease and high rates of extrapulmonary TB. Accurate, ease of use, and rapid diagnosis of active TB is critical to the World Health Organization (WHO) End TB Strategy by 2050. Traditional laboratory techniques do not provide rapid and accurate results to effectively manage HIV co-infected patients...
May 17, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28508163/development-of-molecular-diagnostic-protocols-for-detecting-three-types-of-entamoeba-from-diarrheal-and-asymptomatic-pigs-and-environmental-moist-soils
#20
Yoshimasa Hirashima, Tilusha Manchanayake, Takahisa Yano, Syoei Kitahara, Terunori Koreeda, Syunsuke Kamimura, Kazumi Sasai, Makoto Matsubayashi, Tomoyuki Shibahara
Entamoeba suis and Entamoeba polecki subtypes (ST) 1 and 3 have recently been implicated in disease outbreaks in pigs. However, the distributions of these parasites in Japan and the potential sources of infection on farms still remain unclear. Here, we examined a farm of fattening/growing pigs with abnormal feces in Kagoshima Prefecture, Japan, and found the presence of parasites in the farm environment. Examination of intestinal tissues from pigs presenting with ulcerative colitis revealed a large number of trophozoites that had invaded the lesions...
May 15, 2017: Parasitology Research
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