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Molecular diagnostic

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https://www.readbyqxmd.com/read/29165905/loop-mediated-isothermal-amplification-lamp-a-versatile-technique-for-detection-of-microorganisms
#1
REVIEW
Yien-Ping Wong, Shuhaidah Othman, Yee-Ling Lau, Radu Son, Hui-Yee Chee
Loop mediated isothermal amplification (LAMP) amplifies DNA with high specificity, efficiency, and rapidity under isothermal conditions by using a DNA polymerase with high displacement strand activity and a set of specifically designed primers to amplify targeted DNA strands. Following its first discovery by Notomi et al. in the year 2000, LAMP was further developed over the years which involved the combination of this technique with other molecular approaches, such as reverse transcription and multiplex amplification for the detection of infectious diseases caused by microorganisms in humans, livestock and plants...
November 22, 2017: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/29165888/molecular-pathology-and-thyroid-fna
#2
REVIEW
D N Poller, S Glaysher
This review summarises molecular pathological techniques applicable to thyroid FNA. The molecular pathology of thyroid tumours is now fairly well understood. Molecular methods may be used as a rule-in test for diagnosis of malignancy in thyroid nodules, eg BRAF V600E point mutation, use of a seven-gene mutational panel (BRAF V600E, RAS genes, RET/PTC or PAX8/PPARG rearrangement), or as a comprehensive multigene next-generation sequencing panel, eg ThyroSeq v2. Molecular methods can also be applied as rule-out tests for malignancy in thyroid nodules, eg Afirma or ThyroSeq v2 or as markers of prognosis, eg TERT promoter mutation or other gene mutations including BRAF V600E, TP53 and AKT1, and as tests for newly defined tumour entities such as non-invasive follicular thyroid neoplasm with papillary like nuclei, or as a molecular marker(s) for targeted therapies...
December 2017: Cytopathology: Official Journal of the British Society for Clinical Cytology
https://www.readbyqxmd.com/read/29165737/management-of-hemostasis-for-pediatric-patients-on-ventricular-assist-devices
#3
Iki Adachi, Vadim Kostousov, Lisa Hensch, Martin A Chacon-Portillo, Jun Teruya
Ventricular-assist devices (VADs) have seen increased utilization in the pediatric population. Formerly, this therapeutic modality was limited to only the pulsatile VAD, EXCOR (Berlin Heart GmbH). However, the continuous flow VAD devices, HeartMate II (Abbott Inc.) and HeartWare (Medtronic Inc.), are now increasingly used in this population. Postoperatively, VAD patients are acutely anticoagulated using unfractionated heparin, often beginning 24 to 48 hours after VAD placement. Once the patient is stabilized and ready to transition to a lower acuity or outpatient setting, low-molecular-weight heparin or warfarin therapy may be instituted...
November 17, 2017: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/29165661/variability-and-lack-of-prognostic-value-associated-with-atypical-pituitary-adenoma-diagnosis-a-systematic-review-and-critical-assessment-of-the-diagnostic-criteria
#4
Kelsi Chesney, Zoe Memel, Dhiraj J Pangal, Daniel Donoho, Kyle Hurth, Anna Mathew, John D Carmichael, Gabriel Zada
BACKGROUND: Atypical pituitary adenomas (APAs) are a subset of pituitary adenomas (PAs) characterized by the 2004 World Health Organization (WHO) guidelines to have higher risk histopathological features than typical PAs. In July 2017, the WHO published an update to their classification of pituitary tumors and abandoned the APA terminology. OBJECTIVE: To assess the prevalence and outcomes of patients diagnosed with APA through a literature review. Focus was placed on variation in the application of the previous WHO criteria and on rates of recurrence...
November 18, 2017: Neurosurgery
https://www.readbyqxmd.com/read/29165638/feasibility-of-real-time-molecular-profiling-for-patients-with-newly-diagnosed-glioblastoma-without-mgmt-promoter-hypermethylation-the-nct-neuro-master-match-n2m2-pilot-study
#5
Elke Pfaff, Tobias Kessler, Gnana Prakash Balasubramanian, Anne Berberich, Daniel Schrimpf, Antje Wick, Jürgen Debus, Andreas Unterberg, Martin Bendszus, Christel Herold-Mende, David Capper, Irini Schenkel, Andreas Eisenmenger, Susan Dettmer, Benedikt Brors, Michael Platten, Stefan M Pfister, Andreas von Deimling, David T W Jones, Wolfgang Wick, Felix Sahm
Introduction: O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation status is a predictive biomarker in glioblastoma patients. Glioblastoma without hypermethylated MGMT promoter are largely resistant to treatment with temozolomide. These patients are in particular need of new treatment approaches, which are offered by biomarker-driven clinical trials with targeted drugs based on molecular characterization of individual tumors. Methods: In preparation for an upcoming clinical study, a comprehensive molecular profiling approach was undertaken on tissues from 43 glioblastoma patients harboring an unmethylated MGMT promoter at diagnosis...
November 18, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/29165231/sequence-optimized-real-time-reverse-transcription-polymerase-chain-reaction-assay-for-detection-of-crimean-congo-hemorrhagic-fever-virus
#6
Jeffrey W Koehler, Korey L Delp, Adrienne T Hall, Scott P Olschner, Brian J Kearney, Aura R Garrison, Louis A Altamura, Cynthia A Rossi, Timothy D Minogue
Crimean-Congo hemorrhagic fever virus (CCHFV) is a tick-borne virus of the genus Nairovirus within the family Bunyaviridae. Infection can result in general myalgia, fever, and headache with some patients developing hemorrhagic fever with mortality rates ranging from 5% to 30%. CCHFV has a wide geographic range that includes Africa, Asia, the Middle East, and Europe with nucleotide sequence variation approaching 20% across the three negative-sense RNA genome segments. While phylogenetic clustering generally aligns with geographic origin of individual strains, distribution can be wide due to tick/CCHFV dispersion via migrating birds...
November 20, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29164972/molecular-subtyping-of-breast-cancer-improves-identification-of-both-high-and-low-risk-patients
#7
Maria Rossing, Olga Østrup, Wiktor W Majewski, Savvas Kinalis, Maj-Britt Jensen, Ann Knoop, Niels Kroman, Maj-Lis Talman, Thomas V O Hansen, Bent Ejlertsen, Finn C Nielsen
BACKGROUND: Transcriptome analysis enables classification of breast tumors into molecular subtypes that correlate with prognosis and effect of therapy. We evaluated the clinical benefits of molecular subtyping compared to our current diagnostic practice. MATERIALS AND METHODS: Molecular subtyping was performed on a consecutive and unselected series of 524 tumors from women with primary breast cancer (n = 508). Tumors were classified by the 256 gene expression signature (CIT) and compared to conventional immunohistochemistry (IHC) procedures...
November 22, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29164483/dosimetry-based-treatment-planning-for-molecular-radiotherapy-a-summary-of-the-2017-report-from-the-internal-dosimetry-task-force
#8
Caroline Stokke, Pablo Minguez Gabiña, Pavel Solný, Francesco Cicone, Mattias Sandström, Katarina Sjögreen Gleisner, Carlo Chiesa, Emiliano Spezi, Maria Paphiti, Mark Konijnenberg, Matt Aldridge, Jill Tipping, Michael Wissmeyer, Boudewijn Brans, Klaus Bacher, Carsten Kobe, Glenn Flux
BACKGROUND: The European directive on basic safety standards (Council directive 2013/59 Euratom) mandates dosimetry-based treatment planning for radiopharmaceutical therapies. The directive comes into operation February 2018, and the aim of a report produced by the Internal Dosimetry Task Force of the European Association of Nuclear Medicine is to address this aspect of the directive. A summary of the report is presented. RESULTS: A brief review of five of the most common therapy procedures is included in the current text, focused on the potential to perform patient-specific dosimetry...
November 21, 2017: EJNMMI Physics
https://www.readbyqxmd.com/read/29164482/molecular-imaging-in-musculoskeletal-infections-with-99m-tc-ubi-29-41-spect-ct
#9
Mike Sathekge, Osvaldo Garcia-Perez, Diana Paez, Noura El-Haj, Taylor Kain-Godoy, Ismaheel Lawal, Enrique Estrada-Lobato
OBJECTIVE: To determine the added value of CT over planar and SPECT-only imaging in the diagnosis of musculoskeletal infection using (99m)Tc-UBI 29-4. MATERIALS AND METHODS: 184 patients with suspected musculoskeletal infection who underwent planar and SPECT/CT imaging with (99m)Tc-UBI 29-41 were included. Planar, SPECT-only and SPECT/CT images were reviewed by two independent analysts for presence of bone or soft tissue infection. Final diagnosis was confirmed with tissue cultures, surgery/histology or clinical follow-up...
November 21, 2017: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/29164149/bioinformatics-genes-and-pathway-analysis-for-chronic-neuropathic-pain-after-spinal-cord-injury
#10
REVIEW
Guan Zhang, Ping Yang
It is well known spinal cord injury (SCI) can cause chronic neuropathic pain (NP); however its underlying molecular mechanisms remain elusive. This study aimed to disclose differentially expressed genes (DEGs) and activated signaling pathways in association with SCI induced chronic NP, in order to identify its diagnostic and therapeutic targets. Microarray dataset GSE5296 has been downloaded from Gene Expression Omnibus (GEO) database. Significant analysis of microarray (SAM), Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis, and pathway network analysis have been used to compare changes of DEGs and signaling pathways between the SCI and sham-injury group...
2017: BioMed Research International
https://www.readbyqxmd.com/read/29164057/diagnostic-and-prognostic-significance-of-methionine-uptake-and-methionine-positron-emission-tomography-imaging-in-gliomas
#11
REVIEW
Kamalakannan Palanichamy, Arnab Chakravarti
The present most common image diagnostic tracer in clinical practice for glioma is (18)F-fluorodeoxyglucose (FDG) positron emission tomography (PET) for brain tumors diagnosis and prognosis. PET is a promising molecular imaging technique, which provides real-time information on the metabolic behavior of the tracer. The diffusive nature of glioblastoma (GBM) and heterogeneity often make the radiographic detection by FDG-PET inaccurate, and there is no gold standard. FDG-PET often leads to several controversies in making clinical decisions due to their uptake by normal surrounding tissues, and pose a challenge in delineating treatment-induced necrosis, edema, inflammation, and pseudoprogression...
2017: Frontiers in Oncology
https://www.readbyqxmd.com/read/29163915/field-deployable-quantitative-rapid-identification-of-active-ebola-virus-infection-in-unprocessed-blood
#12
Kavit Shah, Emma Bentley, Adam Tyler, Kevin S R Richards, Edward Wright, Linda Easterbrook, Diane Lee, Claire Cleaver, Louise Usher, Jane E Burton, James K Pitman, Christine B Bruce, David Edge, Martin Lee, Nelson Nazareth, David A Norwood, Sterghios A Moschos
The West African Ebola virus outbreak underlined the importance of delivering mass diagnostic capability outside the clinical or primary care setting in effectively containing public health emergencies caused by infectious disease. Yet, to date, there is no solution for reliably deploying at the point of need the gold standard diagnostic method, real time quantitative reverse transcription polymerase chain reaction (RT-qPCR), in a laboratory infrastructure-free manner. In this proof of principle work, we demonstrate direct performance of RT-qPCR on fresh blood using far-red fluorophores to resolve fluorogenic signal inhibition and controlled, rapid freeze/thawing to achieve viral genome extraction in a single reaction chamber assay...
November 1, 2017: Chemical Science
https://www.readbyqxmd.com/read/29162393/pcr-based-discrimination-of-emerging-streptococcus-pneumoniae-serotypes-22f-and-33f
#13
Hayley D Gillis, Walter H B Demczuk, Averil Griffith, Irene Martin, Michelle Warhuus, Amanda L S Lang, May ElSherif, Shelly A McNeil, Jason J LeBlanc
Serotyping of Streptococcus pneumoniae is important to monitor disease epidemiology and assess the impact of pneumococcal vaccines. Traditionally, the Quellung reaction used serotype-specific antibodies to classify S. pneumoniae based on differences in capsular antigens. More recently, PCR-based serotype deduction relying on serotype-specific capsule biosynthesis genes has been broadly applied for pneumococcal surveillance. However, PCR-based serotyping lacks discrimination for certain S. pneumoniae serotypes, including the differentiation of serotype 22F from 22A, and serotype 33F from 33A and 37...
November 18, 2017: Journal of Microbiological Methods
https://www.readbyqxmd.com/read/29161764/mechanism-of-doxorubicin-cardiotoxicity-evaluated-by-integrating-multiple-molecular-effects-into-a-biophysical-model
#14
M Fernandez-Chas, M J Curtis, S A Niederer
BACKGROUND AND PURPOSE: Doxorubicin (DOX) is an effective cancer therapeutic agent but causes therapy-limiting cardiotoxicity. The effects of DOX and its metabolite doxorubicinol (DOXL) on individual channels have been well characterised in isolation. However, it is unknown how the action and interaction of affected channels combine to generate the phenotypic cardiotoxic outcome. We sought to develop an in silico model that links drug effects on channels to action potential duration (APD) and intracellular Ca(2+) concentration in order to address this gap in knowledge...
November 21, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29161268/nucleic-acid-purification-from-plants-animals-and-microbes-in-under-30-seconds
#15
Yiping Zou, Michael Glenn Mason, Yuling Wang, Eugene Wee, Conny Turni, Patrick J Blackall, Matt Trau, Jose Ramon Botella
Nucleic acid amplification is a powerful molecular biology tool, although its use outside the modern laboratory environment is limited due to the relatively cumbersome methods required to extract nucleic acids from biological samples. To address this issue, we investigated a variety of materials for their suitability for nucleic acid capture and purification. We report here that untreated cellulose-based paper can rapidly capture nucleic acids within seconds and retain them during a single washing step, while contaminants present in complex biological samples are quickly removed...
November 2017: PLoS Biology
https://www.readbyqxmd.com/read/29160384/current-use-and-acceptability-of-novel-diagnostic-tests-for-active-tuberculosis-a-worldwide-survey
#16
Massimo Amicosante, Lia D'Ambrosio, Marcela Munoz, Fernanda Carvalho de Queiroz Mello, Marc Tebruegge, Novel Njweipi Chegou, Fouad Seghrouchni, Rosella Centis, Delia Goletti, Graham Bothamley, Giovanni Battista Migliori
OBJECTIVE: To determine the current use and potential acceptance (by tuberculosis experts worldwide) of novel rapid tests for the diagnosis of tuberculosis that are in line with World Health Organization target product profiles. METHODS: A multilingual survey was disseminated online between July and November of 2016. RESULTS: A total of 723 individuals from 114 countries responded to the survey. Smear microscopy was the most commonly used rapid tuberculosis test (available to 90...
September 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
https://www.readbyqxmd.com/read/29159939/marked-yield-of-re-evaluating-phenotype-and-exome-target-sequencing-data-in-33-individuals-with-intellectual-disabilities
#17
Bing Xiao, Wenjuan Qiu, Xing Ji, Xiaoqing Liu, Zhuo Huang, Huili Liu, Yanjie Fan, Yan Xu, Yu Liu, Hui Yie, Wei Wei, Hui Yan, Zhuwen Gong, Lixiao Shen, Yu Sun
The diagnosis of intellectual disability/developmental delay (ID/DD) benefits from the clinical application of target/exome sequencing. The yield in Mendelian diseases varies from 25% to 68%. The aim of the present study was to identify the genetic causes of 33 ID/DD patients using target/exome sequencing. Recent studies have demonstrated that reanalyzing undiagnosed exomes could yield additional diagnosis. Therefore, in addition to the normal data analysis, in this study, re-evaluation was performed prior to manuscript preparation after updating OMIM annotations, calling copy number variations (CNVs) and reviewing the current literature...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159930/molecular-testing-of-adult-pacific-salmon-and-trout-oncorhynchus-spp-for-several-rna-viruses-demonstrates-widespread-distribution-of-piscine-orthoreovirus-in-alaska-and-washington
#18
M K Purcell, R L Powers, J Evered, J Kerwin, T R Meyers, B Stewart, J R Winton
This research was initiated in conjunction with a systematic, multiagency surveillance effort in the United States (U.S.) in response to reported findings of infectious salmon anaemia virus (ISAV) RNA in British Columbia, Canada. In the systematic surveillance study reported in a companion paper, tissues from various salmonids taken from Washington and Alaska were surveyed for ISAV RNA using the U.S.-approved diagnostic method, and samples were released for use in this present study only after testing negative...
November 21, 2017: Journal of Fish Diseases
https://www.readbyqxmd.com/read/29159838/eys-mutation-update-in-silico-assessment-of-271-reported-and-26-novel-variants-in-patients-with-retinitis-pigmentosa
#19
Muriël Messchaert, Lonneke Haer-Wigman, Muhammad I Khan, Frans P M Cremers, Rob W J Collin
Mutations in Eyes shut homolog (EYS) are one of the most common causes of autosomal recessive (ar) retinitis pigmentosa (RP), a progressive blinding disorder. The exact function of the EYS protein and the pathogenic mechanisms underlying EYS-associated RP are still poorly understood, which hampers the interpretation of the causality of many EYS variants discovered to date. We collected all reported EYS variants present in 377 arRP index cases published before June 2017, and uploaded them in the Leiden Open Variation Database (www...
November 21, 2017: Human Mutation
https://www.readbyqxmd.com/read/29159804/antibodies-against-human-papillomaviruses-as-diagnostic-and-prognostic-biomarker-in-patients-with-neck-squamous-cell-carcinoma-from-unknown-primary
#20
Lea Schroeder, Gunnar Wichmann, Maria Willner, Angelika Michel, Manuel Wiesenfarth, Christa Flechtenmacher, Tanja Gradistanac, Michael Pawlita, Andreas Dietz, Tim Waterboer, Dana Holzinger
Treatment of patients with neck lymph node metastasis of squamous cell carcinoma (SCC) from unknown primary tumor (NSCCUP) is challenging due to the risk of missing occult tumors or inducing toxicity to unaffected sites. Human papillomavirus (HPV) is a promising biomarker given its causal link to oropharyngeal SCC and superior survival of patients with HPV-driven oropharyngeal SCC and NSCCUP. Identification of HPV-driven NSCCUP could focus diagnostic work-up and treatment on the oropharynx. For the first time, we assessed HPV antibodies and their prognostic value in NSCCUP patients...
November 21, 2017: International Journal of Cancer. Journal International du Cancer
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