PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 Microduplication by Angelika J. Dawson, Janice Cox, Karine Hovanes, Elizabeth Spriggs

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Identifying RBBP7 as a Promising Diagnostic Biomarker for BK Virus-Associated Nephropathy by Yicun Wang, Yuxuan Wang, Di Zhang, Hao Zhang, Wei Wang, Xiaopeng Hu

“…BK virus-associated nephropathy (BKVN) remains a major infectious complication due to powerful immunosuppression in kidney transplant recipients, and its histologic appearance can mimic rejection, leading to diagnostic and treatment dilemmas thus molecular diagnostic methods would be beneficial. We collected gene expression profiles of 169 kidney biopsies taken from BKVN, rejection, and stable functioning allografts, based on single sample gene set enrichment analysis and random forest algorithm, and three hallmark activities associated with DNA damage and proliferation were found to be relatively specific in BKVN. …”
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Beekeepers' perceptions toward a new omics tool for monitoring bee health in Europe. by Elena Cini, Simon G Potts, Deepa Senapathi, Matthias Albrecht, Karim Arafah, Dalel Askri, Michel Bocquet, Philippe Bulet, Cecilia Costa, Pilar De la Rúa, Alexandra-Maria Klein, Anina Knauer, Marika Mänd, Risto Raimets, Oliver Schweiger, Jane C Stout, Tom D Breeze

“…Our study is the first to investigate beekeepers' willingness to adopt the Bee Health Card, a molecular diagnostic tool developed within the PoshBee EU project which can rapidly assess bee health by monitoring molecular changes in bees. …”
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BioFire FilmArray Blood Culture Identification (BCID) Panel and Clinical Usefulness: A Systematic Review by Niti Gor, Devesh Joshi

“…Introduction: In the critical care of septic patients, timely and accurate diagnosis is paramount. Molecular diagnostic studies that offer rapid and precise results are lacking. …”
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Early initiation of ceftaroline-based combination therapy for methicillin-resistant Staphylococcus aureus bacteremia by Addison S. Hicks, Mackenzie A. Dolan, Megan D. Shah, Sarah E. Elwood, James A. Platts-Mills, Gregory R. Madden, Zachary S. Elliott, Joshua C. Eby

“…The mean time from MRSA-positive molecular diagnostic blood culture result to combination therapy was 12.1 h. …”
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Polymerase chain reaction for detection of some highly dangerous viral fish disease agents by A. S. Tarasova, A. V. Perchun, V. P. Melnikov

“…To date, laboratory diagnostics of viral fish diseases is based on pathogen isolation and its identification using serological methods which require a lot of time and are performed only in large research institutes with specialized laboratories. Molecular diagnostic methods are more sensitive and high-performance. …”
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Characterization of Follicular Lymphoma in the Small Intestine Using Double-Balloon Endoscopy by Manzurul Chowdhury, Masaki Endo, Toshimi Chiba, Norihiko Kudara, Shuhei Oana, Kunihiko Sato, Risaburo Akasaka, Kazumitsu Tomita, Saori Fujiwara, Tomomi Mizutani, Tamotsu Sugai, Yasuhiro Takikawa, Kazuyuki Suzuki

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Assessment of Antibiotic Resistance and Efflux Pump Gene Expression in Neisseria Gonorrhoeae Isolates from South Africa by Quantitative Real-Time PCR and Regression Analysis by Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana

“…Cost-effective molecular diagnostic tests can guide effective antimicrobial stewardship. …”
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Prognostic Significance and Therapeutic Potential of SERPINE1 in Head and Neck Squamous Cell Carcinoma by Changyu Zhu, Heshu Liu, Zhixin Li, Yijun Shi, Jingyang Zhao, Yuping Bai, Qian Chen, Wei Li

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Quantification of Free Circulating DNA and Differential Methylation Profiling of Selected Genes as Novel Non-Invasive Biomarkers for Endometriosis Diagnosis by Moncef Benkhalifa, Pierre Alain Menoud, David Piquemal, Jack Y. Hazout, Sami Mahjoub, Mohammed Zarquaoui, Noureddine Louanjli, Rosalie Cabry, Andre Hazout

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The Diagnosis Value of a Novel Model with 5 Circulating miRNAs for Liver Fibrosis in Patients with Chronic Hepatitis B by Qingqing Zhang, Qidi Zhang, Binghang Li, Ying Qu, Zhenghong Li, Lungen Lu, Rongzhou Li, Xiaobo Cai

“…It was validated that the combination of these five miRNAs was a new set of promising molecular diagnostic markers for liver fibrosis. The diagnosis model (miR-5) can distinguish significant and nonsignificant liver fibrosis with high sensitivity and specificity.…”
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Clinical management of community-acquired meningitis in adults in the UK and Ireland in 2017: a retrospective cohort study on behalf of the National Infection Trainees Collaborativ... by Amy Robinson, Kamaljit Khalsa, Arjun Chandna, John Bowen, Viva Levee, Jan Coebergh, Tom Solomon, Clive Graham, David Turner, Robert Tilley, Tim Jones, Susan Hopkins, Matthew Stevens, Daniel White, Celestine Eshiwe, Anna Goodman, Ramandeep Singh, Robert S Heyderman, Nicholas Davies, Joseph Thompson, Ed Moran, Martin Williams, Rhea O’Regan, Simon Tiberi, Jonathan Lambourne, Naomi Bulteel, Susan Larkin, Ruth McEwen, Hassan Paraiso, Aarti Shah, Martin Wiselka, Sylviane Defres, Ernest Mutengesa, Maria Krutikov, Ruth Owen, David Griffith, David Harvey, Trupti Patel, Brendan Davies, Emma Mclean, Joanna Allen, Ali Khan, Alastair Miller, Ashutosh Deshpande, Christopher Green, Lewis Jones, Mark Melzer, Fiona McGill, Amanda Fife, Nimal Wickramasinghe, Stephanie Harris, Ewan Hunter, Jayne Ellis, Benedict Rogers, Imogen Fordham, Elen Vink, Victoria Ward, Anna Smith, Andrew Rosser, Alison Muir, Ken Woodhouse, John Shone, Iain Crossingham, Ryan Jayesinghe, Eavan Muldoon, Avneet Shahi, Terry John Evans, Jeremy Wong, Eloisa MacLachlan, Amy Chue, Karishma Gokani, Katherine Ajdukiewicz, Lucinda Barrett, Frances Edwards, Adam Usher, Mairi McLeod, Su su Htwe, Grace Duane, Nicholas Wong, Jennifer Poyner, Jenni Crane, Ollie Lloyd, Emma Chisholm, Ildiko Kustos, Sam Sutton, M. Estee Torok, Isobel Ramsay, Monica Ivan, Joshua York, Jennifer Ansett, Maithili Varadarajan, Priya Sekhon, James Cruise, Shivani Kanabar, Mirella Ling, Charlotte Milne, Jayanta Sarma, Aline Wilson, Lynn Urquhart, Sahar Eldirdiri, Leila White, Jody Aberdein, Phillip Simpson, Hnin Hay Mar, Keying Tan, Eint Shwe Zin thein, Mahmoud Aziz, Anthony Cadwgan, Natasha Weston, Salman Zeb, Angela Houston, Louise Wootton, Iona Willingham, Aimee Johnson, Ashley Horsley, Eamonn Trainor, Olivier Gaillemin, Nicholas J Norton, Katie Cheung, Megan Duxbury, Emilie Bellhouse, Helena Brezovjakova, Kanitkar Tanmay, Alexsander Dawidziuk, Razan Saman, Hugh Adler, Elshadai Ejere, Yiwen Soo, Wendy Beadles, Heather Sturgeon, Brodie Cameron, David Chadwick Ben Tomlinson, Claire McGoldrick, Katie McDowell, Mpho Molosiwa, Katherine FlackAdrian Kennedy, Phoebe Cross, Fay Perry, Vithusha Inpadhas, Sarathy Selvam, Vhairi Bateman, Henry Wu, Monika Pasztor, Ajanthiha Karunakaran, Basma Soliman, Andrew Blanshard, Harish Reddy, Helen Chesterfield, Ben Schroeder, Tee Keat Teoh, Sathyavani Subbarao, Caryn RosmarinLucy Bell, Emma McGuire, Robert Serafino, Ishaan Bhide, Karanjeet Sagoo, Indran Balakrishnan, Kajal Patel, Barzo Faris, Graeme Calver, Ricky Singh, Hazel Sanghvi, Mohamed Eltayeb, Rathur Haris

“…With respect to 20 of 30 assessed standards, clinical management provided for patients was in line with recommendations in less than 50% of cases. 45% of patients had blood cultures taken within an hour of admission, 0.5% had a lumbar puncture within 1 hour, 26% within 8 hours. 28% had bacterial molecular diagnostic tests on cerebrospinal fluid. Median time to first dose of antibiotics was 3.2 hours (IQR 1.3–9.2). 80% received empirical parenteral cephalosporins. 55% ≥60 years and 31% of immunocompromised patients received anti-Listeria antibiotics. 21% received steroids. …”
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Topologically constrained DNA-mediated one-pot CRISPR assay for rapid detection of viral RNA with single nucleotide resolutionResearch in context by Yanan Li, Ru Xu, Fenglei Quan, Yonghua Wu, Yige Wu, Yongyuan Zhang, Yan Liang, Zhenzhong Zhang, Hua Gao, Ruijie Deng, Kaixiang Zhang, Jinghong Li

“…Interpretation: Our study provides a rapid and accurate molecular diagnostic tool for point-of-care testing, epidemiological screening, and the detection of diseases associated with other RNA biomarkers with excellent single nucleotide differentiation, high sensitivity, and simplicity. …”
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An updated systematic review with meta-analysis and meta-regression of the factors associated with human visceral leishmaniasis in the Americas by Anna Gabryela Sousa Duarte, Guilherme Loureiro Werneck, Sarah de Farias Lelis, Thays Santos Mendonça, Daniela Dias Vasconcelos, Tiago Silveira Gontijo, Álisson Oliveira dos Santos, Lucas Edel Donato, Vinícius Silva Belo

“…Future research should be conducted with greater statistical power and using molecular diagnostic techniques, preferably involving cohort studies in diverse Latin American countries. …”
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Study of the Prevalence of Human Papillomavirus Genotypes in Jeddah, Saudi Arabia by Mai M. El-Daly, Arwa A. Faizo, Shahad A. Madkhali, Nashwa F. Aldardeir, Nassrin A. Badroon, Norah A. Uthman, Rahaf T. Alqawas, Ahmed A. Mousa, Safaa A. Turkistani, Esam I. Azhar

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Recombinase-based amplification coupled with lateral flow chromatography for the specific and sensitive detection and identification of Leishmania major in cutaneous leishmaniasis... by Insaf Bel Hadj Ali, Yusr Saadi-Ben Aoun, Imen Khammeri, Hejer Souguir, Emna Harigua-Souiai, Hamed Chouaieb, Ahmed S. Chakroun, Meryem Lemrani, Aicha Kallel, Kalthoum Kallel, Nabil Haddad, Oussaima El Dbouni, Rhea N. Coler, Rhea N. Coler, Rhea N. Coler, Steven G. Reed, Akila Fathallah-Mili, Akila Fathallah-Mili, Ikram Guizani

“…Here, we aimed for a simple and rapid molecular diagnostic test to detect and identify L. major, a predominant CL causal species, which could be prone to become a control tool at the point of care, in endemic areas, using isothermal recombinase DNA amplification (recombinase polymerase amplification, RPA, or recombinase aided amplification, RAA) coupled to detection by the lateral flow (LF) chromatography on a PCRD cassette.MethodsTo develop an L. major species-specific RPA-LF assay, computational analysis of 70 Leishmania DNA targets, identified through bibliography and database searches, selected five targets. …”
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Nanopore-based random genomic sampling for intraoperative molecular diagnosis by Francesco E. Emiliani, Abdol Aziz Ould Ismail, Edward G. Hughes, Gregory J. Tsongalis, George J. Zanazzi, Chun-Chieh Lin

“…By combining CNV detection and methylation classification, iSCORED provides a rapid and comprehensive molecular diagnostic tool that can inform rapid clinical decision. …”
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