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https://www.readbyqxmd.com/read/28807864/reducing-diagnostic-turnaround-times-of-exome-sequencing-for-families-requiring-timely-diagnoses
#1
Aurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, Ange-Line Bruel, Alice Masurel-Paulet, Nolwenn Jean, Sophie Nambot, Marjorie Willems, Laetitia Lambert, Salima El Chehadeh-Djebbar, Elise Schaefer, Aurélia Jaquette, Judith St-Onge, Charlotte Poe, Thibaud Jouan, Martin Chevarin, Patrick Callier, Anne-Laure Mosca-Boidron, Nicole Laurent, Mathilde Lefebvre, Frédéric Huet, Nada Houcinat, Sébastien Moutton, Christophe Philippe, Frédéric Tran-Mau-Them, Antonio Vitobello, Paul Kuentz, Yannis Duffourd, Jean-Baptiste Rivière, Julien Thevenon, Laurence Faivre
BACKGROUND AND OBJECTIVE: Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28799985/rapid-detection-of-bacterial-meningitis-using-a-point-of-care-glucometer
#2
Geoffroy Rousseau, Romain Asmolov, Leslie Grammatico-Guillon, Adrien Auvet, Said Laribi, Denis Garot, Youenn Jouan, Pierre-François Dequin, Antoine Guillon
BACKGROUND: In case of acute bacterial meningitis, a decision on the need for intensive care admission should be made within the first hour. The aim of this study was to assess the ability of a point-of-care glucometer to determine abnormal cerebrospinal fluid (CSF) glucose concentration at the bedside that contributes toward bacterial meningitis diagnosis. METHODS: We carried out a prospective study and simultaneously measured the glucose concentrations in CSF and blood using a central laboratory and a point-of-care glucometer...
August 10, 2017: European Journal of Emergency Medicine: Official Journal of the European Society for Emergency Medicine
https://www.readbyqxmd.com/read/28776530/rapid-laboratory-diagnosis-of-pulmonary-tuberculosis
#3
Prasanna Bhirud, Ameeta Joshi, Nilma Hirani, Abhay Chowdhary
BACKGROUND: Tuberculosis (TB) ranks as the second leading cause of death from an infectious disease worldwide. Early diagnosis of Mycobacterium tuberculosis in clinical samples becomes important in the control of TB both for the treatment of patients and for curbing of disease transmission to the others in the community. The study objective was to perform Ziehl-Neelsen (ZN) staining, fluorochrome staining, line probe assay (LPA), and loop-mediated isothermal amplification (LAMP) assay for rapid detection of pulmonary TB (PTB) and to compare the results of LPA and LAMP in terms of sensitivity, specificity, and turnaround time...
July 2017: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/28768729/evaluation-of-a-novel-reporter-virus-neutralization-test-for-the-serological-diagnosis-of-zika-and-dengue-virus-infection
#4
Chao Shan, Daniel A Ortiz, Yujiao Yang, Susan J Wong, Laura D Kramer, Pei-Yong Shi, Michael J Loeffelholz, Ping Ren
The current laboratory diagnosis of Zika virus (ZIKV) infection is primarily through the detection of ZIKV RNA or antibodies against ZIKV proteins. The detection of viral RNA is highly sensitive and specific, but viremia and viruria periods are brief, limiting the utility of ZIKV RNA assays. Instead, most ZIKV infections are diagnosed serologically using the IgM antibody capture enzyme linked immunosorbent assay (MAC-ELISA) for screening followed by a confirmatory plaque reduction neutralization test (PRNT)...
August 2, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28766202/preoperative-panel-testing-for-hereditary-cancer-syndromes-does-not-significantly-impact-time-to-surgery-for-newly-diagnosed-breast-cancer-patients-compared-with-brca1-2-testing
#5
Amy E Murphy, Lala Hussain, Ching Ho, Erik Dunki-Jacobs, David Lee, Ashley Tameron, Karen Huelsman, Courtney Rice, Barbara A Wexelman
BACKGROUND: This study seeks to determine whether there is a delay in time to surgery in breast cancer patients with panel tests compared with traditional BRCA testing. METHODS: This study was a retrospective review of women diagnosed with breast cancer who underwent genetic evaluation from our institution's Genetic Counselor Database from January 2013 to August 2015. Patients were excluded if they were male, clinical information was unavailable, the patient underwent neoadjuvant chemotherapy, had a diagnosis of recurrent breast cancer during time of study, or had postoperative genetics evaluation...
August 1, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28764319/the-intraoperative-immunohistochemical-staining-of-cd56-and-ck19-improves-surgical-decision-for-thyroid-follicular-lesions
#6
Ju Yeon Pyo, Sung-Eun Choi, Eunah Shin, JaSeung Koo, SoonWon Hong
Background: When differential diagnosis is difficult in thyroid follicular lesions with overlapping histological features, the immunohistochemical staining can help confirm the diagnosis. We aimed to evaluate the effectiveness of rapid immunohistochemical stains of CD56 and cytokeratin 19 (CK19) on frozen sections of thyroid follicular lesion and explore the possible gains and limitations of the practice. Materials and Methods: Eighty-six nodules of 79 patients whose intraoperative frozen sections were selected as the control group, and 53 nodules of 48 patients whose intraoperative frozen sections were subject to rapid immunohistochemistry were selected as the study group...
August 2, 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28756433/point-of-care-testing-across-rural-and-remote-emergency-departments-in-australia-staff-perceptions-of-operational-impact
#7
Maria R Dahm, Euan McCaughey, Ling Li, Johanna Westbrook, Virginia Mumford, Juliana Iles-Mann, Andrew Sargeant, Andrew Georgiou
New South Wales (NSW) Health Pathology is implementing one of the world's largest managed PoCT services across rural and remote Emergency Departments (EDs) in New South Wales, Australia to improve patient access to care. The aim of this qualitative study was to gain a context-rich understanding of the operational impact of the NSW rollout of PoCT across rural and remote ED settings as experienced by frontline clinical staff. Clinical professionals (n=14) participated in interviews and focus groups in August 2015 at four rural and remote NSW EDs...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28751229/improving-efficiency-and-safety-in-external-beam-radiation-therapy-treatment-delivery-using-a-kaizen-approach
#8
Ajay Kapur, Nilda Adair, Mildred O'Brien, Nikoleta Naparstek, Thomas Cangelosi, Petrina Zuvic, Sherin Joseph, Jason Meier, Beatrice Bloom, Louis Potters
INTRODUCTION: Modern external beam radiation therapy treatment delivery processes potentially increase the number of tasks to be performed by therapists and thus opportunities for errors, yet the need to treat a large number of patients daily requires a balanced allocation of time per treatment slot. The goal of this work was to streamline the underlying workflow in such time-interval constrained processes to enhance both execution efficiency and active safety surveillance using a Kaizen approach...
June 29, 2017: Practical Radiation Oncology
https://www.readbyqxmd.com/read/28736627/personalized-and-precision-medicine-integrating-genomics-into-treatment-decisions-in-gastrointestinal-malignancies
#9
REVIEW
Trang H Au, Kai Wang, David Stenehjem, Ignacio Garrido-Laguna
The advent of next generation sequencing (NGS) technologies has advanced our understanding of the intrinsic biology of different gastrointestinal (GI) tumor types. The use of novel, more efficient sequencing platforms has improved turnaround times of sequencing results. This is providing real time opportunities to put precision medicine to the test. A number of early phase clinical trials are testing targeted therapies in unique molecularly characterized subsets of patients (baskets). While basket studies are gaining momentum, treatment failures serve to remind us that shifting from a histology-driven to a histology-agnostic approach is unlikely to be a failure-free strategy for a number of tumor types as recently learnt from vemurafenib failure in BRAF mutated metastatic colorectal cancer (mCRC)...
June 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28716434/training-midwives-to-perform-basic-obstetric-point-of-care-ultrasound-in-rural-areas-using-a-tablet-platform-and-mobile-phone-transmission-technology-a-wfumb-coe-project
#10
Sudhir Vinayak, Joyce Sande, Harvey Nisenbaum, Christian Pállson Nolsøe
Point-of-care ultrasound (POCUS) has become a topical subject and can be applied in a variety of ways with differing outcomes. The cost of all diagnostic procedures including obstetric ultrasound examinations is a major factor in the developing world and POCUS is only useful if it can be equated to good outcomes at a lower cost than a routine obstetric examination. The aim of this study was to assess a number of processes including accuracy of images and reports generated by midwives, performance of a tablet-sized ultrasound scanner, training of midwives to complete ultrasounds, teleradiology solution transmissions of images via internet, review of images by a radiologist, communication between midwife and radiologist, use of this technique to identify high-risk patients and improvement of the education and teleradiology model components...
July 14, 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28705557/automatic-identification-of-the-optimal-reference-frame-for-segmentation-and-quantification-of-focal-liver-lesions-in-contrast-enhanced-ultrasound
#11
Spyridon Bakas, Dimitrios Makris, Gordon J A Hunter, Cheng Fang, Paul S Sidhu, Katerina Chatzimichail
Post-examination interpretation of contrast-enhanced ultrasound (CEUS) cineloops of focal liver lesions (FLLs) requires offline manual assessment by experienced radiologists, which is time-consuming and generates subjective results. Such assessment usually starts by manually identifying a reference frame, where FLL and healthy parenchyma are well-distinguished. This study proposes an automatic computational method to objectively identify the optimal reference frame for distinguishing and hence delineating an FLL, by statistically analyzing the temporal intensity variation across the spatially discretized ultrasonographic image...
October 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28705527/reducing-stat-portable-chest-radiograph-turnaround-times-a-pilot-study
#12
REVIEW
Pratik Rachh, Alexa O Levey, Andrew Lemmon, Aurora Marinescu, William F Auffermann, Daniel Haycook, Eugene A Berkowitz
BACKGROUND: Our health system orders a high number of STAT priority portable chest radiographs (62%) compared to Routine (35%) and Today (3%). Retrospective chart review of 1000 chest radiographs ordered with the STAT priority revealed that 38% of studies did not indicate clinical urgency. Given the high number or STAT priority portable chest radiographs ordered, prioritizing acquisition and interpretation of true STATs has become challenging for technologists and radiologists, leading to process inefficiencies, long turnaround times (TATs), communication failures, and patient-safety errors...
June 5, 2017: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/28697621/undiagnosed-tuberculosis-in-patients-with-hiv-infection-who-present-with-severe-anaemia-at-a-district-hospital
#13
Mbulelo Mntonintshi, Don O'Mahony, Sikhumbuzo Mabunda, Kakia A F Namugenyi
BACKGROUND: Tuberculosis (TB) is a major cause of severe anaemia in patients with human immunodeficiency virus (HIV) infection in South Africa. However, TB can be difficult to diagnose as it may be extra pulmonary and paucibacillary. AIM: The aim of this study was to investigate undiagnosed TB in patients with HIV infection and severe anaemia and to identify the optimal investigations for diagnosing TB. SETTING: Mthatha General Hospital, a district hospital...
June 30, 2017: African Journal of Primary Health Care & Family Medicine
https://www.readbyqxmd.com/read/28685159/the-aurora-pilot-study-for-molecular-screening-of-patients-with-advanced-breast-cancer-a-study-of-the-breast-international-group
#14
Marion Maetens, David Brown, Alexandre Irrthum, Philippe Aftimos, Giuseppe Viale, Sibylle Loibl, Jean-François Laes, Peter J Campbell, Alastair Thompson, Javier Cortes, Sabine Seiler, Sara Vinnicombe, Mafalda Oliveira, Françoise Rothé, Yacine Bareche, Debora Fumagalli, Dimitrios Zardavas, Christine Desmedt, Martine Piccart, Sherene Loi, Christos Sotiriou
Several studies have demonstrated the feasibility of molecular screening of tumour samples for matching patients with cancer to targeted therapies. However, most of them have been carried out at institutional or national level. Herein, we report on the pilot phase of AURORA (NCT02102165), a European multinational collaborative molecular screening initiative for advanced breast cancer patients. Forty-one patients were prospectively enroled at four participating centres across Europe. Metastatic tumours were biopsied and profiled using an Ion Torrent sequencing platform at a central facility...
2017: NPJ Breast Cancer
https://www.readbyqxmd.com/read/28679912/reducing-length-of-stay-by-enhancing-patients-discharge-a-practical-approach-to-improve-hospital-efficiency
#15
Mohamed Khalifa
For years, hospitals have responded to inefficiencies by adding more resources, whereas research suggests that it is a flow problem. King Faisal Specialist Hospital and Research Center decided to improve efficiency and enhance patient flow through improving patient discharge and reducing length of stay. Eight interventions were implemented; dedicating slots in diagnostic services for discharges, improving communication, eliminating pending exams, identifying discharges the day before, prioritizing laboratory tests, coordinating discharge medication processing and utilizing case management...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/28665950/mortality-among-pcr-negative-admitted-ebola-suspects-during-the-2014-15-outbreak-in-conakry-guinea-a-retrospective-cohort-study
#16
Brecht Ingelbeen, Elhadj Ibrahima Bah, Tom Decroo, Idrissa Balde, Helena Nordenstedt, Johan van Griensven, Anja De Weggheleire
Non-cases are suspect Ebola Virus Disease (EVD) cases testing negative by EVD RT-PCR after admission to an Ebola Treatment Centre (ETC). Admitting non-cases to an ETC prompts concerns on case- and workload in the ETC, risk for nosocomial EVD infection, and delays in diagnosis and disease-specific treatment. We retrospectively analysed characteristics, outcomes and determinants of death of EVD cases and non-cases admitted to the Conakry ETC in Guinea between 03/2014 and 09/2015. Of the 2362 admitted suspects who underwent full confirmatory PCR testing, 1540 (65...
2017: PloS One
https://www.readbyqxmd.com/read/28638988/same-day-genomic-and-epigenomic-diagnosis-of-brain-tumors-using-real-time-nanopore-sequencing
#17
Philipp Euskirchen, Franck Bielle, Karim Labreche, Wigard P Kloosterman, Shai Rosenberg, Mailys Daniau, Charlotte Schmitt, Julien Masliah-Planchon, Franck Bourdeaut, Caroline Dehais, Yannick Marie, Jean-Yves Delattre, Ahmed Idbaih
Molecular classification of cancer has entered clinical routine to inform diagnosis, prognosis, and treatment decisions. At the same time, new tumor entities have been identified that cannot be defined histologically. For central nervous system tumors, the current World Health Organization classification explicitly demands molecular testing, e.g., for 1p/19q-codeletion or IDH mutations, to make an integrated histomolecular diagnosis. However, a plethora of sophisticated technologies is currently needed to assess different genomic and epigenomic alterations and turnaround times are in the range of weeks, which makes standardized and widespread implementation difficult and hinders timely decision making...
June 21, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28636889/complications-of-hematopoietic-stem-transplantation-fungal-infections
#18
REVIEW
Ali S Omrani, Reem S Almaghrabi
Patients undergoing allogeneic hematopoietic stem cell transplantation (HSCT) are at increased risk of invasive fungal infections, especially during the early neutropenic phase and severe graft-versus-host disease. Mold-active prophylaxis should be limited to the highest risk groups. Empiric antifungal therapy for HSCT with persistent febrile neutropenia is associated with unacceptable response rates, unnecessary antifungal therapy, increased risk of toxicity, and inflated costs. Empiric therapy should not be a substitute for detailed work up to identify the cause of fever in such patients...
June 13, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28630193/pyrazinamide-susceptibility-and-pnca-mutation-profile-of-mycobacterium-tuberculosis-among-multi-drug-resistant-tuberculosis-patients-in-bangladesh
#19
Arfatur Rahman, Sara Sabrina Ferdous, Shahriar Ahmed, S M Mazidur Rahman, Mohammad Khaja Mafij Uddin, Suporn Pholwat, Jean Gratz, Eric Houpt, Sayera Banu
Pyrazinamide (PZA) is a front line anti-tuberculosis (anti-TB) drug used in both first and second line treatment regimen. However, due to complex laboratory requirements, the PZA susceptibility test is rarely performed leading to the scarcity of data. Bangladesh is both a high TB and multi-drug resistant (MDR-TB) burden country but to our knowledge the published data on PZA susceptibility is limited, especially among MDR-TB patients. We aimed to analyze the PZA susceptibility pattern of Mycobacterium tuberculosis (MTB) isolates from MDR-TB patients and to correlate pncA mutation with PZA resistance in Bangladesh...
June 19, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28627817/turbidimetric-determination-of-fecal-calprotectin-using-two-table-top-chemistry-analyzers-mindray-bs-200e-and-cobas%C3%A2-c111
#20
Aleksandra Mandic-Havelka, Tom Nilsen, Kathrin Sunde, Maria Norell, Lars O Hansson, Anders Larsson
BACKGROUND: Fecal calprotectin assays are widely used in diagnosis and monitoring of inflammatory bowel disease (IBD) in patients with suspected IBD. The most frequently used technique is ELISA and microtiter plates. Turbidimetric assays for analysis of fecal calprotectin can significantly reduce turnaround time. Many laboratories may be reluctant to run fecal samples on their large chemistry analyzers. The aim of this study was to evaluate fecal calprotectin particle enhanced turbidimetric immunoassay (PETIA) on smaller chemistry analyzers that could be dedicated for fecal samples...
May 1, 2017: Clinical Laboratory
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