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Molecular diagnostic

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https://www.readbyqxmd.com/read/29785639/development-of-a-molecular-diagnostic-test-for-retinitis-pigmentosa-in-the-japanese-population
#1
Akiko Maeda, Akiko Yoshida, Kanako Kawai, Yuki Arai, Ryutaro Akiba, Akira Inaba, Seiji Takagi, Ryoji Fujiki, Yasuhiko Hirami, Yasuo Kurimoto, Osamu Ohara, Masayo Takahashi
PURPOSE: Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy caused by different genetic variants. More than 60 causative genes have been identified to date. The establishment of cost-effective molecular diagnostic tests with high sensitivity and specificity can be beneficial for patients and clinicians. Here, we developed a clinical diagnostic test for RP in the Japanese population. STUDY DESIGN: Evaluation of diagnostic technology, Prospective, Clinical and experimental study...
May 21, 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29785618/a-quick-and-simple-benchtop-vortex-egg-disruption-approach-for-the-molecular-diagnosis-of-fasciola-hepatica-from-ruminant-faecal-samples
#2
Nichola Eliza Davies Calvani, Tina Cheng, Christine Green, Patrick Hughes, Emily Kwan, Elizabeth Maher, Russell David Bush, Jan Šlapeta
Commonly employed diagnostic methods for Fasciola spp., such as a traditional sedimentation and faecal egg count, or a commercially available coprological ELISA, have limitations in their sensitivity or ability to differentiate species. A reliable DNA isolation method coupled with real-time PCR addresses these issues by providing highly sensitive and quantitative molecular diagnosis from faecal samples. The current study evaluated a standard benchtop vortex for F. hepatica egg disruption in sheep and cattle faecal samples and determined the minimum faecal egg load required for a positive result from un-concentrated (raw) faecal samples...
May 22, 2018: Parasitology Research
https://www.readbyqxmd.com/read/29785215/mycobacteriosis-and-tuberculosis-laboratory-diagnosis
#3
REVIEW
Davood Azadi, Tahereh Motallebirad, Kazem Ghaffari, Hasan Shojaei
Background: Tuberculosis is one of the most important infectious diseases that has claimed its victims throughout much of known human history. With Koch's discovery of the tubercle bacillus as the etiologic agent of the disease, his sanitary and hygienic measures, which were based on his discovery and the development of a vaccine against tuberculosis by Albert Calmette and Camille Guérin in 1921, an attenuated Mycobacterium bovis strain, bacilli Calmette-Guérin (BCG), and the discovery of the first antibiotic against tuberculosis, streptomycin by Selman Waksman in 1943, soon led to the opinion that appropriate control measures had become available for tuberculosis and it had been assumed that the disease could ultimately be eradicated...
2018: Open Microbiology Journal
https://www.readbyqxmd.com/read/29784674/clinically-relevant-cytotoxic-immune-cell-signatures-and-clonal-expansion-of-t-cell-receptors-in-high-risk-mycn-not-amplified-human-neuroblastoma
#4
Jun S Wei, Igor B Kuznetsov, Shile Zhang, Young K Song, Shahab Asgharzadeh, Sivasish Sindiri, Xinyu Wen, Rajesh Patidar, Sushma Nagaraj, Ashley Walton, Jaime M Guidry Auvil, Daniela S Gerhard, Aysen Yuksel, Daniel R Catchpoole, Stephen M Hewitt, Paul M Sondel, Robert C Seeger, John M Maris, Javed Khan
PURPOSE: High-risk neuroblastoma is an aggressive disease. DNA sequencing studies have revealed a paucity of actionable genomic alterations and a low mutation burden, posing challenges to develop effective novel therapies. We used RNA sequencing (RNA-seq) to investigate the biology of this disease including a focus on tumor-infiltrating lymphocytes (TILs). EXPERIMENTAL DESIGN: We performed deep RNA-seq on pre-treatment diagnostic tumors from 129 high-risk and 21 low- or intermediate-risk patients with neuroblastomas...
May 21, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29784358/short-probe-based-duplex-specific-nuclease-signal-amplification-strategy-enables-imaging-of-endogenous-micrornas-in-living-cells-with-ultrahigh-specificity
#5
Yingjun Ma, Jun Chen, Danping Chen, Yuzhi Xu, Li Zhang, Zong Dai, Xiaoyong Zou
Specific nucleic acids amplification at a constant and mild temperature is important for imaging assay of endogenous microRNAs (miRNAs) in living cells. Duplex-specific nuclease (DSN) is attractive in one-step isothermal assay of miRNA; however, its intrinsic limitations of low amplification specificity and high reaction temperature greatly restrict the application scope. Herein, we present a short-probe-based DSN signal amplification (spDSNSA) strategy enabling analysis of miRNAs at body temperature with significantly high specificity...
August 15, 2018: Talanta
https://www.readbyqxmd.com/read/29784152/laboratory-investigations-in-uveitis-current-practice-and-future-directions
#6
REVIEW
Parthopratim Dutta Majumder, Amit Palkar, Radha Annamalai, Jyotirmay Biswas
Diagnosis and management of uveitis always remains a challenge to the treating ophthalmologists. Rapid diagnosis and timely initiation of appropriate, effective treatment in uveitis are the critical determinants that lead to good visual outcome and reduce the risk of ocular morbidity. In the last decade, significant progress has been made in molecular diagnostic modalities and in development of newer diagnostic tools, which included serological tests and imaging techniques. However, a tailored approach to laboratory investigations based on meticulous history and comprehensive ocular evaluation has been propounded as the gold standard for successful management of an uveitic entity...
June 2018: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29784069/first-molecular-phylogeny-of-agrilus-coleoptera-buprestidae-the-largest-genus-on-earth-with-dna-barcode-database-for-forestry-pest-diagnostics
#7
I Kelnarova, E Jendek, V V Grebennikov, L Bocak
All more than 3000 species of Agrilus beetles are phytophagous and some cause economically significant damage to trees and shrubs. Facilitated by international trade, Agrilus species regularly invade new countries and continents. This necessitates a rapid identification of Agrilus species, as the first step for subsequent protective measures. This study provides the first DNA reference library for ~100 Agrilus species from the Northern Hemisphere based on three mitochondrial markers: cox1-5' (DNA barcode fragment), cox1-3', and rrnL...
May 22, 2018: Bulletin of Entomological Research
https://www.readbyqxmd.com/read/29783260/-methods-of-diagnosis-of-non-specific-and-specific-lymphideniates-of-the-jaw-facial-part-in-children-literature-review
#8
Pavlo I Tkachenko, Yurii B Lobach, Sergii O Bilokon, Vitalina O Dobroskok, Yuliia V Popelo
OBJECTIVE: Introduction: Insufficient basic knowledge on the mechanisms of the multifactoral etiology and pathogenesis of various forms of maxillofacial lymphadenitis of odontogenic and non-odontogenic nature in children causes difficulties in making differential diagnosis. The algorithm of their examination involves a large number of methods, each of which has its own advantages and disadvantages with variable informativeness, depending on the particular situation. The aim: The paper is aimed atfamiliarization of broad medical public with informativeness of diagnostic measures in the nonspecific and specific affection of lymph nodes of the maxillofacial area in children...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783081/recent-technological-advancements-in-tuberculosis-diagnostics-a-review
#9
REVIEW
Shagun Gupta, Vipan Kakkar
Early diagnosis and on-time effective treatment are indispensable for Tuberculosis (TB) control - a life threatening infectious communicable disease. The conventional techniques for diagnosing TB normally take two to three weeks. This delay in diagnosis and further increase in detection complexity due to the emerging risks of XDR-TB (Extensively drug Resistant-TB) and MDR-TB (Multidrug Resistant-TB) are evoking interest of researchers in the field of developing rapid TB detection techniques such as biosensing and other point-of-care (POC) techniques...
May 11, 2018: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29782539/comparison-of-two-commercial-carbapenemase-gene-confirmatory-assays-in-multiresistant-enterobacteriaceae-and-acinetobacter-baumannii-complex
#10
Stephan Rösner, Kevin Gehlweiler, Uta Küsters, Mathias Kolbert, Kirsten Hübner, Niels Pfennigwerth, Dietrich Mack
Multidrug-resistant Gram-negative bacilli (MDR-GNB) producing carbapenemases are increasing at an alarming speed. Rapid confirmation of carbapenemase type will be an important diagnostic step in clinical microbiology laboratories not only to reduce the risk of transmissions but also for optimising antibiotic therapy in the future. We compared diagnostic reliability of two commercially available molecular assays (Check-Direct CPE vs. AID line probe assay) for detection and typing of carbapenemase genes in 80 well-characterized isolates of MDR-GNB...
2018: PloS One
https://www.readbyqxmd.com/read/29782064/accuracy-of-p57-kip-2-compared-with-genotyping-to-diagnose-complete-hydatidiform-mole-a-systematic-review-and-meta-analysis
#11
José Mauro Madi, Antonio Braga, Machline Paim Paganella, Isnard Elman Litvin, Eliana Márcia Wendland
BACK GROUND: Distinguishing hydatidiform moles (HMs) from non-molar specimens and the sub-classification of HM are important because complete hydatidiform mole (CHM) is associated with an increased risk of development of gestational trophoblastic neoplasia. However, diagnosis based solely on morphology has poor interobserver reproducibility. Recent studies have demonstrated that the use of p57KIP 2 immunostaining improves diagnostic accuracy for CHM. OBJECTIVES: To evaluate the accuracy of p57KIP 2 immunostaining compared with molecular genotyping for the diagnosis of CHM...
May 21, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29781757/molecular-diagnosis-of-coenzyme-q-10-deficiency-an-update
#12
Delia Yubero, Raquel Montero, Carlos Santos-Ocaña, Leonardo Salviati, Placido Navas, Rafael Artuch
Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing number of genetic disorders. While primary CoQ deficiency syndromes are rare diseases, secondary deficiencies have been related to both genetic and environmental conditions, which are the main causes of biochemical CoQ deficiency. The diagnosis is the essential first step for planning future treatment strategies, as the potential treatability of CoQ deficiency is the most critical issue for the patients. Areas covered: While the quickest and most effective tool to define a CoQ-deficient status is its biochemical determination in biological fluids or tissues, this quantification does not provide a definite diagnosis of a CoQ-deficient status nor insight about the genetic etiology of the disease...
May 21, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29780635/liquid-biopsy-for-lung-cancer-early-detection
#13
REVIEW
Mariacarmela Santarpia, Alessia Liguori, Alessandro D'Aveni, Niki Karachaliou, Maria Gonzalez-Cao, Maria Grazia Daffinà, Chiara Lazzari, Giuseppe Altavilla, Rafael Rosell
Molecularly targeted therapies and immune checkpoint inhibitors have markedly improved the therapeutic management of advanced lung cancer. However, it still remains the leading cause of cancer-related mortality worldwide, with disease stage at diagnosis representing the main prognostic factor. Detection of lung cancer at an earlier stage of disease, potentially susceptible of curative resection, can be critical to improve patients survival. Low-dose computed tomography (LDCT) screening of high-risk patients has been demonstrated to reduce mortality from lung cancer, but can be also associated with high false-positive rate, thus often resulting in unnecessary interventions for patients...
April 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29780521/translating-molecular-detections-into-a-simple-temperature-test-using-a-target-responsive-smart-thermometer
#14
Jingjing Zhang, Hang Xing, Yi Lu
While it has been well recognized that affordable and pocket-size devices play a major role in environmental monitoring, food safety and medical diagnostics, it often takes a tremendous amount of resources to develop such devices. Devices that have been developed are often dedicated devices that can detect only one or a few targets. To overcome these limitations, we herein report a novel target-responsive smart thermometer for translating molecular detection into a temperature test. The sensor system consists of a functional DNA-phospholipase A2 (PLA2 ) enzyme conjugate, a liposome-encapsulated NIR dye, and a thermometer interfaced with a NIR-laser device...
April 28, 2018: Chemical Science
https://www.readbyqxmd.com/read/29779766/should-all-suspected-tuberculosis-cases-in-high-income-countries-be-tested-with-genexpert
#15
Venanzio Vella, Agnieszka Broda, Francis Drobniewski
In countries with a low incidence of multidrug-resistant tuberculosis (MDR-TB), universal testing with GeneXpert might not be always cost-effective. This study provides hospital managers in low MDR-TB incidence countries with criteria on when decentralised universal GeneXpert testing would make sense. The alternatives taken into consideration include: universal microbiological culture and drug susceptibility testing (DST) only (comparator); as above but with concurrent centralized GeneXpert in a referral laboratory vs a decentralized GeneXpert system in every hospital to test smear-positive cases only; as above but testing all samples with GeneXpert regardless of smear status...
May 2018: Tuberculosis
https://www.readbyqxmd.com/read/29779608/current-use-of-molecular-profiling-for-indeterminate-thyroid-nodules
#16
Irene López Rojo, Adela Gómez Valdazo, Joaquín Gómez Ramirez
Even though cytology remains the gold standard to assess the nature of thyroid nodules, up to 30% of the results are indeterminate (BethesdaIII and IV). In these cases, current guidelines recommend performing diagnostic surgery, which proves malignancy in only 15-30% of cases. A more precise method is needed to avoid unnecessary surgeries, surgical complications and costs in the process of diagnosing indeterminate nodules. Complementary use of molecular profiling tests seems to help in this complex scenario...
May 17, 2018: Cirugía Española
https://www.readbyqxmd.com/read/29778890/dual-photoacoustic-ultrasound-multi-parametric-imaging-from-passion-fruit-like-nano-architectures
#17
Paolo Armanetti, Salvador Pocoví-Martínez, Alessandra Flori, Cinzia Avigo, Domenico Cassano, Luca Menichetti, Valerio Voliani
Ultrasound (US) imaging is a well-established diagnostic technique to image soft tissues in real time, while photoacoustic (PA) is an emerging imaging technique employed to collect molecular information. Integration of PA and US imaging provides complementary information enhancing diagnostic accuracy without employing ionizing radiations. The development of contrast agents able to combine PA and US features is pivotal to improve the significance of PAUS imaging and for PAUS-guided treatment of neoplasms. Here, we demonstrate in relevant ex-vivo models that disassembling passion fruit-like nano-architectures (pfNAs) can be employed in PAUS imaging...
May 17, 2018: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/29778881/polymerase-chain-reaction-pcr-based-methods-promising-molecular-tools-in-dentistry
#18
REVIEW
Shahriar Shahi, Sepideh Zununi Vahed, Nazanin Fathi, Simin Sharifi
Polymerase chain reaction (PCR) has become a popular diagnosis and research technique in dentistry. Several studies show that its high sensitivity and specificity allow it as a precise, efficient, and rapid method for detection, identification, and quantification of microorganism. Several genetic polymorphisms can be determined along with detection of immune and inflammatory markers, therefore providing the more accurate perception into the mechanisms underlying the dental and periodontal disease. This review paper discusses the application of PCR as a diagnostic technique in periodontology, endodontic infections, implant-related, and peri-implantitis infection, immune and inflammatory markers identification and genetic polymorphism as well as application of next generation sequencing and gene microarray technology in dentistry mentioned...
May 17, 2018: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29778701/natural-history-of-avian-papillomaviruses
#19
REVIEW
Daniel A Truchado, Richard A J Williams, Laura Benítez
Papillomaviruses (Family: Papillomaviridae) are small non-enveloped viruses that cause skin and mucosa infections in diverse vertebrates. The vast majority have been detected in mammals. However, the number of papillomaviruses described in birds is growing, especially because of metagenomic studies. Seven complete genomes and one partial sequence have been described, corresponding to five papillomavirus genera. These have been detected from various sample types, including skin, internal epithelium, and faecal material, from seven highly diverse wild and captive avian species...
May 17, 2018: Virus Research
https://www.readbyqxmd.com/read/29778490/the-molecular-allergology-of-subtropical-grass-pollen
#20
Thina Kailaivasan, Janet M Davies
Grass pollens are amongst the most important aeroallergen sources world-wide triggering allergic rhinoconjunctivitis and asthma in sensitised patients. Much of what we know about the allergen components of grasses is informed by research on pollen of temperate (Pooideae) species that are abundant in the temperate climate zones. However, climate changes are altering the biogeographical distribution as well as timing and allergenicity of grass pollens. This provides an impetus for better understanding of the contribution of subtropical subfamilies of grasses to pollen allergy globally...
May 16, 2018: Molecular Immunology
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