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https://www.readbyqxmd.com/read/29777376/comprehensive-molecular-diagnosis-of-epstein-barr-virus-associated-lymphoproliferative-diseases-using-next-generation-sequencing
#1
Shintaro Ono, Manabu Nakayama, Hirokazu Kanegane, Akihiro Hoshino, Saeko Shimodera, Hirofumi Shibata, Hisanori Fujino, Takahiro Fujino, Yuta Yunomae, Tsubasa Okano, Motoi Yamashita, Takahiro Yasumi, Kazushi Izawa, Masatoshi Takagi, Kohsuke Imai, Kejian Zhang, Rebecca Marsh, Capucine Picard, Sylvain Latour, Osamu Ohara, Tomohiro Morio
Epstein-Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodeficiency diseases (PIDs) including X-linked lymphoproliferative syndrome (XLP), are characterized by susceptibility and vulnerability to EBV infection. The number of genetically defined PIDs is rapidly increasing, and clinical genetic testing plays an important role in establishing a definitive diagnosis. Whole-exome sequencing is performed for diagnosing rare genetic diseases, but is both expensive and time-consuming...
May 18, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29776628/molecular-pathology-techniques-advances-in-2018
#2
REVIEW
Mark J Bluth, Martin H Bluth
Molecular pathology techniques continue to evolve. Although polymerase chain reaction (PCR) remains the cornerstone methodology for nucleic acid amplification, improvements in nucleic acid detection methodologies (i.e. PCR) have increased the detection sensitivity by using fluorescent and bead based array technologies. Single base pair lesions can be detected via sequencing and related techniques to discern point mutations in disease pathogenesis. Novel technologies, such as high- resolution melting analysis, provide fast high throughput post PCR analysis of genetic mutations or variance in nucleic acid sequences...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29776627/introduction-molecular-medicine-in-the-common-era-applications-and-impact-of-molecular-pathology-in-health-and-disease
#3
REVIEW
Martin H Bluth
The unprecedented expansion of molecular pathology continues to affect and influence the clinical laboratory. Technological advances in high-throughput automation, cost containment, and refined methodology have improved the understanding of pathobiology through application of molecular pathology to multiple disease spaces. Incorporation of this field to emerging omics platforms, pharmacovigilance and biomarker discovery, and accessibility by lay consumers demonstrates the widespread reach of molecular pathology in the clinical marketplace...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29773831/dnajc17-is-localized-in-nuclear-speckles-and-interacts-with-splicing-machinery-components
#4
A Pascarella, G Ferrandino, S C Credendino, C Moccia, F D'Angelo, B Miranda, C D'Ambrosio, P Bielli, O Spadaro, M Ceccarelli, A Scaloni, C Sette, M De Felice, G De Vita, E Amendola
DNAJC17 is a heat shock protein (HSP40) family member, identified in mouse as susceptibility gene for congenital hypothyroidism. DNAJC17 knockout mouse embryos die prior to implantation. In humans, germline homozygous mutations in DNAJC17 have been found in syndromic retinal dystrophy patients, while heterozygous mutations represent candidate pathogenic events for myeloproliferative disorders. Despite widespread expression and involvement in human diseases, DNAJC17 function is still poorly understood. Herein, we have investigated its function through high-throughput transcriptomic and proteomic approaches...
May 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29772310/recombination-activity-of-human-rag2-mutations-and-correlation-with-the-clinical-phenotype
#5
Irit Tirosh, Yasuhiro Yamazaki, Francesco Frugoni, Francesca A Ververs, Eric J Allenspach, Yu Zhang, Siobhan Burns, Waleed Al-Herz, Lenora Noroski, Jolan E Walter, Andrew R Gennery, Mirjam van der Burg, Luigi D Notarangelo, Yu Nee Lee
BACKGROUND: Mutations in the Recombinase Activating Gene 1 and 2 (RAG1, RAG2) are associated with a broad range of clinical and immunological phenotypes in humans. OBJECTIVE: Using a flow cytometry-based assay, we aimed to measure the recombinase activity of naturally occurring RAG2 mutant proteins, and to correlate results with the severity of the clinical and immunological phenotype. METHODS: Abelson virus-transformed Rag2-/- pro-B cells engineered to contain an inverted GFP cassette flanked by recombination signal sequences (RSS) were transduced with retroviruses encoding either wild-type or 41 naturally occurring RAG2 variants...
May 14, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29770330/the-prediction-of-drug-disease-correlation-based-on-gene-expression-data
#6
Hui Cui, Menghuan Zhang, Qingmin Yang, Xiangyi Li, Michael Liebman, Ying Yu, Lu Xie
The explosive growth of high-throughput experimental methods and resulting data yields both opportunity and challenge for selecting the correct drug to treat both a specific patient and their individual disease. Ideally, it would be useful and efficient if computational approaches could be applied to help achieve optimal drug-patient-disease matching but current efforts have met with limited success. Current approaches have primarily utilized the measureable effect of a specific drug on target tissue or cell lines to identify the potential biological effect of such treatment...
2018: BioMed Research International
https://www.readbyqxmd.com/read/29770180/factors-impacting-arthroscopic-rotator-cuff-repair-operational-throughput-time-at-an-ambulatory-care-center
#7
Emily J Curry, Catherine Logan, Kaytelin Suslavich, Kaitlyn Whitlock, Eric Berkson, Elizabeth Matzkin
Identifying patient factors influencing operational throughput time is becoming more imperative due to an increasing focus on value and cost savings in healthcare. The primary objective of this study was to determine patient factors influencing throughput time for primary rotator cuff repairs. Demographic information, medical history and operative reports of 318 patients from one ambulatory care center were retrospectively reviewed. Operating room set up, incision to closure and recovery room time were collected from anesthesia records...
March 29, 2018: Orthopedic Reviews
https://www.readbyqxmd.com/read/29769286/targeted-inhibition-of-histone-h3k27-demethylation-is-effective-in-high-risk-neuroblastoma
#8
Timothy L Lochmann, Krista M Powell, Jungoh Ham, Konstantinos V Floros, Daniel A R Heisey, Richard I J Kurupi, Marissa L Calbert, Maninderjit S Ghotra, Patricia Greninger, Mikhail Dozmorov, Madhu Gowda, Andrew J Souers, C Patrick Reynolds, Cyril H Benes, Anthony C Faber
High-risk neuroblastoma is often distinguished by amplification of MYCN and loss of differentiation potential. We performed high-throughput drug screening of epigenetic-targeted therapies across a large and diverse tumor cell line panel and uncovered the hypersensitivity of neuroblastoma cells to GSK-J4, a small-molecule dual inhibitor of lysine 27 of histone 3 (H3K27) demethylases ubiquitously transcribed tetratricopeptide repeat, X chromosome (UTX), and histone demethylase Jumonji D3 (JMJD3). Mechanistically, GSK-J4 induced neuroblastoma differentiation and endoplasmic reticulum (ER) stress, with accompanying up-regulation of p53 up-regulated modulator of apoptosis (PUMA) and induction of cell death...
May 16, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29769165/radial-hemostasis-is-facilitated-with-a-potassium-ferrate-hemostatic-patch-the-statseal-with-tr-band-assessment-trial-stat
#9
Arnold H Seto, William Rollefson, Mitul P Patel, William M Suh, David M Tehrani, Jacqueline A Nguyen, Daniel G Amador, Omid Behnamfar, Vinisha Garg, Mauricio G Cohen
AIMS: Hemostasis is a limiting factor for discharge after uncomplicated transradial procedures. The potassium ferrate hemostatic patch (PFHP) may serve as an adjunct to the air-bladder TR band (TRB) and allow expedited deflation of the TRB. METHODS AND RESULTS: Prospective multicenter randomized controlled trial comparing radial hemostatic protocols. Deflation of the TRB was attempted at 40 minutes with PFHP and at 120 minutes without the PFHP. The primary outcome was time to full deflation of the TRB with hemostasis...
May 15, 2018: EuroIntervention
https://www.readbyqxmd.com/read/29768500/clinically-relevant-inflammatory-breast-cancer-patient-derived-xenograft-derived-ex-vivo-model-for-evaluation-of-tumor-specific-therapies
#10
Bedrich L Eckhardt, Maria Gagliardi, LaKesla Iles, Kurt Evans, Cristina Ivan, Xiuping Liu, Chang-Gong Liu, Glauco Souza, Arvind Rao, Funda Meric-Bernstam, Naoto T Ueno, Geoffrey A Bartholomeusz
Inflammatory breast cancer (IBC) is a rare and aggressive presentation of invasive breast cancer with a 62% to 68% 5-year survival rate. It is the most lethal form of breast cancer, and early recognition and treatment is important for patient survival. Like non-inflammatory breast cancer, IBC comprises multiple subtypes, with the triple-negative subtype being overrepresented. Although the current multimodality treatment regime of anthracycline- and taxane-based neoadjuvant therapy, surgery, and radiotherapy has improved the outcome of patients with triple-negative IBC, overall survival continues to be worse than in patients with non-inflammatory locally advanced breast cancer...
2018: PloS One
https://www.readbyqxmd.com/read/29765908/the-subgingival-microbiome-of-periodontal-pockets-with-different-probing-depths-in-chronic-and-aggressive-periodontitis-a-pilot-study
#11
Meng Shi, Yiping Wei, Wenjie Hu, Yong Nie, Xiaolei Wu, Ruifang Lu
Periodontitis is a kind of infectious disease initiated by colonization of subgingival periodontal pathogens, which cause destruction of tooth-supporting tissues, and is a predominant threat to oral health as the most common cause of loss of teeth. The aim of this pilot study was to characterize the subgingival bacterial biodiversity of periodontal pockets with different probing depths in patients with different forms of periodontitis. Twenty-one subgingival plaque samples were collected from three patients with chronic periodontitis (ChP), three patients with aggressive periodontitis (AgP) and three periodontally healthy subjects (PH)...
2018: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/29765082/pretreatment-drug-resistance-in-a-large-countrywide-ethiopian-hiv-1c-cohort-a-comparison-of-sanger-and-high-throughput-sequencing
#12
Nigus Fikrie Telele, Amare Worku Kalu, Solomon Gebre-Selassie, Daniel Fekade, Samir Abdurahman, Gaetano Marrone, Ujjwal Neogi, Belete Tegbaru, Anders Sönnerborg
Baseline plasma samples of 490 randomly selected antiretroviral therapy (ART) naïve patients from seven hospitals participating in the first nationwide Ethiopian HIV-1 cohort were analysed for surveillance drug resistance mutations (sDRM) by population based Sanger sequencing (PBSS). Also next generation sequencing (NGS) was used in a subset of 109 baseline samples of patients. Treatment outcome after 6- and 12-months was assessed by on-treatment (OT) and intention-to-treat (ITT) analyses. Transmitted drug resistance (TDR) was detected in 3...
May 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29765063/long-non-coding-rna-expression-patterns-in-lung-tissues-of-chronic-cigarette-smoke-induced-copd-mouse-model
#13
Haiyun Zhang, Dejun Sun, Defu Li, Zeguang Zheng, Jingyi Xu, Xue Liang, Chenting Zhang, Sheng Wang, Jian Wang, Wenju Lu
Long non-coding RNAs (lncRNAs) have critical regulatory roles in protein-coding gene expression. Aberrant expression profiles of lncRNAs have been observed in various human diseases. In this study, we investigated transcriptome profiles in lung tissues of chronic cigarette smoke (CS)-induced COPD mouse model. We found that 109 lncRNAs and 260 mRNAs were significantly differential expressed in lungs of chronic CS-induced COPD mouse model compared with control animals. GO and KEGG analyses indicated that differentially expressed lncRNAs associated protein-coding genes were mainly involved in protein processing of endoplasmic reticulum pathway, and taurine and hypotaurine metabolism pathway...
May 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29764576/-nipbl-gene-mutations-in-two-children-with-cornelia-de-lange-syndrome
#14
Yun-Jing Zhao, Hong-Wei Ma
Both children (one boy and one girl) experienced disease onset in infancy and visited the hospital due to growth retardation. They had unusual facies including thick hair, arched and confluent eyebrows, long and curly eyelashes, short nose, and micrognathia. Patient 1 had congenital heart disease (atrial septal defect and pulmonary stenosis) and special dermatoglyph (a single palmar crease). Patient 2 had cleft palate and moderate-to-severe deafness. Clinical features suggested Cornelia de Lange syndrome in both children...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29762886/automatic-m1-so-montage-headgear-for-transcranial-direct-current-stimulation-tdcs-suitable-for-home-and-high-throughput-in-clinic-applications
#15
Helena Knotkova, Alexa Riggs, Destiny Berisha, Helen Borges, Henry Bernstein, Vaishali Patel, Dennis Q Truong, Gozde Unal, Denis Arce, Abhishek Datta, Marom Bikson
OBJECTIVES: Non-invasive transcranial direct current stimulation (tDCS) over the motor cortex is broadly investigated to modulate functional outcomes such as motor function, sleep characteristics, or pain. The most common montages that use two large electrodes (25-35 cm2 ) placed over the area of motor cortex and contralateral supraorbital region (M1-SO montages) require precise measurements, usually using the 10-20 EEG system, which is cumbersome in clinics and not suitable for applications by patients at home...
May 15, 2018: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/29761157/a-next-generation-sequencing-primer-how-does-it-work-and-what-can-it-do
#16
REVIEW
Yuriy O Alekseyev, Roghayeh Fazeli, Shi Yang, Raveen Basran, Thomas Maher, Nancy S Miller, Daniel Remick
Next-generation sequencing refers to a high-throughput technology that determines the nucleic acid sequences and identifies variants in a sample. The technology has been introduced into clinical laboratory testing and produces test results for precision medicine. Since next-generation sequencing is relatively new, graduate students, medical students, pathology residents, and other physicians may benefit from a primer to provide a foundation about basic next-generation sequencing methods and applications, as well as specific examples where it has had diagnostic and prognostic utility...
January 2018: Academic pathology
https://www.readbyqxmd.com/read/29760847/decreased-nursing-staffing-adversely-affects-emergency-department-throughput-metrics
#17
Zachariah Ramsey, Joseph S Palter, John Hardwick, Jordan Moskoff, Errick L Christian, John Bailitz
Introduction: The effect of nurse staffing on emergency department (ED) efficiency remains a significant area of interest to administrators, physicians, and nurses. We believe that decreased nursing staffing adversely affects key ED throughput metrics. Methods: We conducted a retrospective observational review of our electronic medical record database from 1/1/2015 to 12/31/2015 at a high-volume, urban public hospital. We report nursing hours, door-to-discharge length of stay (LOS) and door-to-admit LOS, and percentage of patients who left without being seen (LWBS)...
May 2018: Western Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29760842/appropriateness-of-extremity-magnetic-resonance-imaging-examinations-in-an-academic-emergency-department-observation-unit
#18
McKinley Glover, Ravi V Gottumukkala, Yadiel Sanchez, Brian J Yun, Theodore I Benzer, Benjamin A White, Anand M Prabhakar, Ali S Raja
Introduction: Emergency departments (ED) and hospitals face increasing challenges related to capacity, throughput, and stewardship of limited resources while maintaining high quality. Appropriate utilization of extremity magnetic resonance imaging (MRI) examinations within the emergency setting is not well known. Therefore, this study aimed to determine indications for and appropriateness of MRI of the extremities for musculoskeletal conditions in the ED observation unit (EDOU). Methods: We conducted this institutional review board-approved, retrospective study in a large, quaternary care academic center and Level I trauma center...
May 2018: Western Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29760479/immunoprofiling-of-chlamydia-trachomatis-using-whole-proteome-microarrays-generated-by-on-chip-in-situ-expression
#19
Katrin Hufnagel, Smiths Lueong, Martina Willhauck-Fleckenstein, Agnes Hotz-Wagenblatt, Beiping Miao, Andrea Bauer, Angelika Michel, Julia Butt, Michael Pawlita, Jörg D Hoheisel, Tim Waterboer
Using Chlamydia trachomatis (Ct) as a complex model organism, we describe a method to generate bacterial whole-proteome microarrays using cell-free, on-chip protein expression. Expression constructs were generated by two successive PCRs directly from bacterial genomic DNA. Bacterial proteins expressed on microarrays display antigenic epitopes, thereby providing an efficient method for immunoprofiling of patients and allowing de novo identification of disease-related serum antibodies. Through comparison of antibody reactivity patterns, we newly identified antigens recognized by known Ct-seropositive samples, and antigens reacting only with samples from cervical cancer (CxCa) patients...
May 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29759945/diagnosis-of-local-hepatic-tuberculosis-through-next-generation-sequencing-smarter-faster-and-better
#20
Jing-Wen Ai, Yang Li, Qi Cheng, Peng Cui, Hong-Long Wu, Bin Xu, Wen-Hong Zhang
BACKGROUND: A 45-year-old man who complained of continuous fever and multiple hepatic masses was admitted to our hospital. Repeated MRI manifestations were similar while each radiological report suggested contradictory diagnosis pointing to infections or malignances respectively. Pathologic examination of the liver tissue showed no direct evidence of either infections or tumor. We performed next-generation sequencing on the liver tissue and peripheral blood to further investigate the possible etiology...
May 11, 2018: Clinics and Research in Hepatology and Gastroenterology
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