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https://www.readbyqxmd.com/read/28944885/exploring-the-key-genes-and-pathways-of-osteosarcoma-with-pulmonary-metastasis-using-a-gene-expression-microarray
#1
Zhongju Shi, Hengxing Zhou, Bin Pan, Lu Lu, Zhijian Wei, Linlin Shi, Xue Yao, Yi Kang, Shiqing Feng
Osteosarcoma is a common and highly malignant tumour in children and teenagers that is characterized by drug resistance and high metastatic potential. Patients often develop pulmonary metastasis and have a low survival rate. However, the mechanistic basis for pulmonary metastasis remains unclear. To identify key gene and pathways associated with pulmonary metastasis of osteosarcoma, the authors downloaded the gene expression dataset GSE85537 and obtained the differentially expressed genes (DEGs) by analyzing high‑throughput gene expression in primary tumours and lung metastases...
September 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28943077/evaluation-of-an-evidence-based-throat-pain-protocol-to-reduce-left-without-being-seen-length-of-stay-and-antibiotic-prescribing
#2
Deanna Settelmeyer
BACKGROUND: Increasing numbers of people are seeking unscheduled medical care in United States' emergency departments, which contributes to delayed throughput and increased patient length of stay. Implementation of nurse-initiated protocols, such as those for throat pain, initiates early diagnostic testing, optimizes patient throughput strategies, and promotes adherence to clinic practice guidelines for an additional segment of patients. AIM: To evaluate the effect of an evidence-based throat-pain protocol...
September 21, 2017: Journal of Emergency Nursing: JEN: Official Publication of the Emergency Department Nurses Association
https://www.readbyqxmd.com/read/28941584/high-throughput-microfluidic-labyrinth-for-the-label-free-isolation-of-circulating-tumor-cells
#3
Eric Lin, Lianette Rivera-Báez, Shamileh Fouladdel, Hyeun Joong Yoon, Stephanie Guthrie, Jacob Wieger, Yadwinder Deol, Evan Keller, Vaibhav Sahai, Diane M Simeone, Monika L Burness, Ebrahim Azizi, Max S Wicha, Sunitha Nagrath
We present "Labyrinth," a label-free microfluidic device to isolate circulating tumor cells (CTCs) using the combination of long loops and sharp corners to focus both CTCs and white blood cells (WBCs) at a high throughput of 2.5 mL/min. The high yield (>90%) and purity (600 WBCs/mL) of Labyrinth enabled us to profile gene expression in CTCs. As proof of principle, we used previously established cancer stem cell gene signatures to profile single cells isolated from the blood of breast cancer patients. We observed heterogeneous subpopulations of CTCs expressing genes for stem cells, epithelial cells, mesenchymal cells, and cells transitioning between epithelial and mesenchymal...
September 18, 2017: Cell Systems
https://www.readbyqxmd.com/read/28941351/autovalidation-and-automation-of-the-postanalytical-phase-of-routine-hematology-and-coagulation-analyses-in-a-university-hospital-laboratory
#4
Ana Mlinaric, Marija Milos, Désirée Coen Herak, Mirjana Fucek, Vladimira Rimac, Renata Zadro, Dunja Rogic
BACKGROUND: The need to satisfy high-throughput demands for laboratory tests continues to be a challenge. Therefore, we aimed to automate postanalytical phase in hematology and coagulation laboratory by autovalidation of complete blood count (CBC) and routine coagulation test results (prothrombin time [PT], international normalized ratio [PT-INR], activated partial thromboplastin time [APTT], fibrinogen, antithrombin activity [AT] and thrombin time [TT]). Work efficacy and turnaround time (TAT) before and after implementation of automated solutions will be compared...
September 23, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28939971/pharmacological-chaperones-as-potential-therapeutic-strategies-for-misfolded-mutant-vasopressin-receptors
#5
Bernard Mouillac, Christiane Mendre
Pharmacological chaperones recently opened new possibilities in G protein-coupled receptor drug discovery. Even more interestingly, some unique ligands combine pharmacological chaperoning and biased agonism properties, boosting their therapeutic interest in many human diseases resulting from G protein-coupled receptor mutation and misfolding. These compounds displaying dual characteristics would constitute a perfect treatment for congenital Nephrogenic Diabetes Insipidus, a typical conformational disease. This X-linked genetic pathology is mostly associated with inactivating mutations of the renal arginine-vasopressin V2 receptor leading to misfolding and intracellular retention of the receptor, causing the inability of patients to concentrate their urine in response to the antidiuretic hormone...
September 23, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28939077/genomic-characterization-of-tobacco-nut-chewing-hpv-negative-early-stage-tongue-tumors-identify-mmp10-asa-candidate-to-predict-metastases
#6
Pawan Upadhyay, Nilesh Gardi, Sanket Desai, Pratik Chandrani, Asim Joshi, Bhaskar Dharavath, Priyanca Arora, Munita Bal, Sudhir Nair, Amit Dutt
OBJECTIVES: Nodal metastases status among early stage tongue squamous cell cancer patients plays a decisive role in the choice of treatment, wherein about 70% patients can be spared from surgery with an accurate prediction of negative pathological lymph node status. This underscores an unmet need for prognostic biomarkers to stratify the patients who are likely to develop metastases. MATERIALS AND METHODS: We performed high throughput sequencing of fifty four samples derived from HPV negative early stage tongue cancer patients habitual of chewing betel nuts, areca nuts, lime or tobacco using whole exome (n=47) and transcriptome (n=17) sequencing that were analyzed using in-house computational tools...
October 2017: Oral Oncology
https://www.readbyqxmd.com/read/28938736/deep-sequencing-shows-that-oocytes-are-not-prone-to-accumulate-mtdna-heteroplasmic-mutations-during-ovarian-ageing
#7
L Boucret, C Bris, V Seegers, D Goudenège, V Desquiret-Dumas, M Domin-Bernhard, V Ferré-L'Hotellier, P E Bouet, P Descamps, P Reynier, V Procaccio, P May-Panloup
STUDY QUESTION: Does ovarian ageing increase the number of heteroplasmic mitochondrial DNA (mtDNA) point mutations in oocytes? SUMMARY ANSWER: Our results suggest that oocytes are not subject to the accumulation of mtDNA point mutations during ovarian ageing. WHAT IS KNOWN ALREADY: Ageing is associated with the alteration of mtDNA integrity in various tissues. Primary oocytes, present in the ovary since embryonic life, may accumulate mtDNA mutations during the process of ovarian ageing...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28935285/is-the-pelvic-examination-still-crucial-in-patients-presenting-to-the-emergency-department-with%C3%A2-vaginal-bleeding-or-abdominal-pain-when-an-intrauterine-pregnancy-is-identified-on-ultrasonography-a-randomized-controlled-trial
#8
Judith A Linden, Benjamin Grimmnitz, Laura Hagopian, Alan H Breaud, Breanne K Langlois, Kerrie P Nelson, Lauren L Hart, James Feldman, Jeremy Brown, Marc Reid, Elise Desormeau, Patricia Mitchell
STUDY OBJECTIVE: We determine whether omitting the pelvic examination in emergency department (ED) evaluation of vaginal bleeding or lower abdominal pain in ultrasonographically confirmed early intrauterine pregnancy is equivalent to performing the examination. METHODS: We conducted a prospective, open-label, randomized, equivalence trial in pregnant patients presenting to the ED from February 2011 to November 2015. Patients were randomized to no pelvic examination versus pelvic examination...
September 18, 2017: Annals of Emergency Medicine
https://www.readbyqxmd.com/read/28934395/abnormal-polyamine-metabolism-is-unique-to-the-neuropathic-forms-of-mps-potential-for-biomarker-development-and-insight-into-pathogenesis
#9
Christian Hinderer, Nathan Katz, Jean-Pierre Louboutin, Peter Bell, Jakub Tolar, Paul J Orchard, Troy C Lund, Mohamad Nayal, Liwei Weng, Clementina Mesaros, Carolina F M de Souza, Amauri Dalla Corte, Roberto Giugliani, James M Wilson
The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurological symptoms. Development of treatments for the neurological manifestations of MPS has been hindered by the lack of objective measures of central nervous system disease burden. Identification of biomarkers for central nervous system disease in MPS patients would facilitate the evaluation of new agents in clinical trials. High throughput metabolite screening of cerebrospinal fluid (CSF) samples from a canine model of MPS I revealed a marked elevation of the polyamine, spermine, in affected animals, and gene therapy studies demonstrated that reduction of CSF spermine reflects correction of brain lesions in these animals...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28933415/integrative-systems-biology-investigation-of-fabry-disease
#10
Marco Fernandes, Holger Husi
Fabry disease (FD) is a rare X-linked recessive genetic disorder caused by a deficient activity of the lysosomal enzyme alpha-galactosidase A (GLA) and is characterised by intra-lysosomal accumulation of globotriaosylceramide (Gb3). We performed a meta-analysis of peer-reviewed publications including high-throughput omics technologies including naïve patients and those undergoing enzyme replacement therapy (ERT). This study describes FD on a systems level using a systems biology approach, in which molecular data sourced from multi-omics studies is extracted from the literature and integrated as a whole in order to reveal the biochemical processes and molecular pathways potentially affected by the dysregulation of differentially expressed molecules...
November 15, 2016: Diseases (Basel)
https://www.readbyqxmd.com/read/28930861/targeted-gene-panel-sequencing-for-early-onset-inflammatory-bowel-disease-and-chronic-diarrhea
#11
Britt-Sabina Petersen, Dietrich August, Renate Abt, Moudjahed Alddafari, Lida Atarod, Safa Baris, Hemant Bhavsar, Florian Brinkert, Mary Buchta, Alla Bulashevska, Ronnie Chee, Ana I Cordeiro, Naghi Dara, Gregor Dückers, Aisha Elmarsafy, Natalie Frede, Nermeen Galal, Patrick Gerner, Erik-Oliver Glocker, Sigune Goldacker, Jutta Hammermann, Peter Hasselblatt, Zuzana Havlicekova, Katrin Hübscher, Milos Jesenak, Neslihan E Karaca, Elif Karakoc-Aydiner, Mahboubeh M Kharaghani, Sara S Kilic, Ayca Kiykim, Christoph Klein, Christian Klemann, Robin Kobbe, Daniel Kotlarz, Martin W Laass, T Ronan Leahy, Mehrnaz Mesdaghi, Sally Mitton, João F Neves, Birol Öztürk, Luis F Pereira, Jan Rohr, Jessica L R Restrepo, Gunda Ruzaike, Nadia Saleh, Suranjith Seneviratne, Ebru Senol, Carsten Speckmann, Daniel Tegtmeyer, Paul Thankam, Jutte van der Werff Ten Bosch, Horst von Bernuth, Sebastian Zeissig, Yvonne Zeissig, Andre Franke, Bodo Grimbacher
BACKGROUND: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients...
September 19, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28930616/development-of-a-semi-automated-image-based-high-throughput-drug-screening-system
#12
Remzi Onur Eren, Dmitry Kopelyanskiy, Dimitri Moreau, Julien Bortoli Chapalay, Marc Chambon, Gerardo Turcatti, Lon-Fye Lye, Stephen M Beverley, Nicolas Fasel
We previously reported that the innate sensing of the endosymbiont Leishmania RNA virus 1 (LRV1) within Leishmania (Viannia) guyanensis through Toll-like receptor 3, worsens the pathogenesis of parasite infection in mice. The presence of LRV1 has been associated with the failure of first-line treatment in patients infected with LRV1 containing -L. guyanensis and -L. braziliensis parasites. Here, we established a semi-automated image-based high-throughput drug screening (HTDS) protocol to measure parasiticidal activity of the Prestwick chemical library in primary murine macrophages infected with LRV1-containing L...
January 1, 2018: Frontiers in Bioscience (Elite Edition)
https://www.readbyqxmd.com/read/28929814/what-s-new-in-the-diagnosis-of-pancreatic-cancer-a-patent-review-2011-present
#13
Houria Boulaiz, María C Ramos, Carmen Griñán-Lisón, Maria E García-Rubiño, Francisca Vicente, Juan Antonio Marchal
Pancreatic cancer (PC) is the fourth leading cause of cancer-related death in the US with a 5-year survival rate of about 5%. Most patients have advanced metastatic disease mainly due to the lack of an effective early detection, and an extremely poor prognosis. Advancing in the fight against PC requires developing novel observable biomarkers at preclinical stages for early detection. Areas covered: This manuscript is an overview of different PC diagnostic modalities and the latest innovations made to enhance early PC detection through the patents published from 2011 to 2017...
September 20, 2017: Expert Opinion on Therapeutic Patents
https://www.readbyqxmd.com/read/28928729/high-throughput-genetic-screen-reveals-that-early-attachment-and-biofilm-formation-are-necessary-for-full-pyoverdine-production-by-pseudomonas-aeruginosa
#14
Donghoon Kang, Natalia V Kirienko
Pseudomonas aeruginosa is a re-emerging, multidrug-resistant, opportunistic pathogen that threatens the lives of immunocompromised patients, patients with cystic fibrosis, and those in critical care units. One of the most important virulence factors in this pathogen is the siderophore pyoverdine. Pyoverdine serves several critical roles during infection. Due to its extremely high affinity for ferric iron, pyoverdine gives the pathogen a significant advantage over the host in their competition for iron. In addition, pyoverdine can regulate the production of multiple bacterial virulence factors and perturb host mitochondrial homeostasis...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28927861/primary-cilia-formation-is-diminished-in-schizophrenia-and-bipolar-disorder-a-possible-marker-for-these-psychiatric-diseases
#15
Jesús Muñoz-Estrada, Alejandra Lora-Castellanos, Isaura Meza, Salvador Alarcón Elizalde, Gloria Benítez-King
Primary cilium (PC) is a microtubule-rich organelle that protrudes from the plasma membrane and acts as a cellular antenna sensing extracellular signals during brain development. DISC1 (Disrupted-in-Schizophrenia-1) is involved in PC formation and is considered a risk factor for neuropsychiatric disorders. We have previously described altered subcellular distribution of DISC1 and an aberrant microtubule organization in olfactory neuronal precursors (ONP) obtained from schizophrenia (SCZ) and bipolar disorder (BD) patients...
September 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28927745/apolipoprotein-m-gene-single-nucleotide-polymorphisms-discovery-in-patients-with-chronic-obstructive-pulmonary-disease-and-determined-by-the-base-quenched-probe-technique
#16
Yang Yu, Jun Zhang, Yingying Qiao, Lili Pan, Juzhang Li, Huihui Mao, Jiang Wei, Xiaoying Zhang, Ning Xu, Guanghua Luo
BACKGROUND: It has been reported increased serum apoM levels seen in the patients suffered from obstructive sleep apnoea and chronic obstructive pulmonary diseases. In the present, we further examine the prevalence of apoM gene SNPs in COPD patients. And a new method base-quenched probe technique is established. METHODS: In the present study, we first used the Roche 454 GS Junior high-throughput sequencer to analyze 6 COPD samples and 6 control samples, in these samples we found 3 interesting SNPs (rs805264, rs707922 and rs707921) and then we designed primers and probes to establish a simple and quick screening method that is a base-quench probe technique and the genotype was confirmed by melting curves...
September 16, 2017: Gene
https://www.readbyqxmd.com/read/28927421/a-25-gene-classifier-predicts-overall-survival-in-resectable-pancreatic-cancer
#17
David J Birnbaum, Pascal Finetti, Alexia Lopresti, Marine Gilabert, Flora Poizat, Jean-Luc Raoul, Jean-Robert Delpero, Vincent Moutardier, Daniel Birnbaum, Emilie Mamessier, François Bertucci
BACKGROUND: Pancreatic carcinoma is one of the most lethal human cancers. In patients with resectable tumors, surgery followed by adjuvant chemotherapy is the only curative treatment. However, the 5-year survival is 20%. Because of a strong metastatic propensity, neoadjuvant chemotherapy is being tested in randomized clinical trials. In this context, improving the selection of patients for immediate surgery or neoadjuvant chemotherapy is crucial, and high-throughput molecular analyses may help; the present study aims to address this...
September 20, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28927305/discovery-and-application-of-immune-biomarkers-for-hematological-malignancies
#18
Dimitrios Zafeiris, Jayakumar Vadakekolathu, Sarah Wagner, Alan Graham Pockley, Graham Roy Ball, Sergio Rutella
Hematological malignancies originate and progress in primary and secondary lymphoid organs, where they establish a uniquely immune-suppressive tumour microenvironment. Although high-throughput transcriptomic and proteomic approaches are being employed to interrogate immune surveillance and escape mechanisms in patients with solid tumours, and to identify actionable targets for immunotherapy, our knowledge of the immunological landscape of hematological malignancies, as well as our understanding of the molecular circuits that underpin the establishment of immune tolerance, is not comprehensive...
September 25, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28925492/detection-of-hereditary-hearing-loss-gene-by-dna-microarray
#19
G-Y Han, Z Xu, Q-S Li, H-Y Shen, W Zhang, J Liang
OBJECTIVE: Screening genes in patients suffering clinically sporadic deafness, using DNA microarray, and evaluating the application value of the clinical detection. PATIENTS AND METHODS: DNA extracted from patients' venous blood was amplified by PCR, and hybridization was carried out in a myriad class clean room. Nine mutation sites of four deaf genes commonly seen in Chinese people were tested. RESULTS: Among 24 patients, 7 cases with mutations were detected, with a positive rate of 29...
August 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28924228/an-expanded-role-for-heterozygous-mutations-of-abcb4-abcb11-atp8b1-abcc2-and-tjp2-in-intrahepatic-cholestasis-of-pregnancy
#20
Peter H Dixon, Melissa Sambrotta, Jennifer Chambers, Pamela Taylor-Harris, Argyro Syngelaki, Kypros Nicolaides, A S Knisely, Richard J Thompson, Catherine Williamson
Intrahepatic cholestasis of pregnancy (ICP) affects 1/140 UK pregnancies; with pruritus, hepatic impairment and elevated serum bile acids. Severe disease is complicated by spontaneous preterm delivery and stillbirth. Previous studies have reported mutations in hepatocellular transporters (ABCB4, ABCB11). High throughput sequencing in 147 patients was performed in the transporters ABCB4, ABCB11, ATP8B1, ABCC2 and tight junction protein 2 (TJP2). Twenty-six potentially damaging variants were identified with the following predicted protein changes: Twelve ABCB4 mutations - Arg47Gln, Met113Val, Glu161Gly, Thr175Ala, Glu528Glyfs*6, Arg590Gln, Ala601Ser, Glu884Ter, Gly722Ala, Tyr775Met (x2), Trp854Ter...
September 18, 2017: Scientific Reports
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