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Clinical pathway diagnostic test

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https://www.readbyqxmd.com/read/29453510/next-generation-metabolic-screening-targeted-and-untargeted-metabolomics-for-the-diagnosis-of-inborn-errors-of-metabolism-in-individual-patients
#1
Karlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, Udo F H Engelke, Siebolt de Boer, Brechtje Hoegen, Hanneke J T Kwast, Maartje van de Vorst, Marleen C D G Huigen, Irene M L W Keularts, Michiel F Schreuder, Clara D M van Karnebeek, Saskia B Wortmann, Maaike C de Vries, Mirian C H Janssen, Christian Gilissen, Jasper Engel, Ron A Wevers
The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn errors of metabolism (IEM), a diverse spectrum of targeted biochemical assays is employed to analyze a limited amount of metabolites. We now present a single-platform, high-resolution liquid chromatography quadrupole time of flight (LC-QTOF) method that can be applied for holistic metabolic profiling in plasma of individual IEM-suspected patients. This method, which we termed "next-generation metabolic screening" (NGMS), can detect >10,000 features in each sample...
February 16, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29431662/classification-and-reporting-of-potentially-proarrhythmic-common-genetic-variation-in-long-qt-syndrome-genetic-testing
#2
REVIEW
John R Giudicessi, Dan M Roden, Arthur A M Wilde, Michael J Ackerman
The acquired and congenital forms of long QT syndrome represent 2 distinct but clinically and genetically intertwined disorders of cardiac repolarization characterized by the shared final common pathway of QT interval prolongation and risk of potentially life-threatening arrhythmias. Over the past 2 decades, our understanding of the spectrum of genetic variation that (1) perturbs the function of cardiac ion channel macromolecular complexes and intracellular calcium-handling proteins, (2) underlies acquired/congenital long QT syndrome susceptibility, and (3) serves as a determinant of QT interval duration in the general population has grown exponentially...
February 6, 2018: Circulation
https://www.readbyqxmd.com/read/29427123/clinical-utility-of-rt-pcr-in-assessing-her-2-gene-expression-versus-traditional-ihc-and-fish-in-breast-cancer-patients
#3
Moushumi Suryavanshi, Anurag Mehta, Jiten Jaipuria, Dushyant Kumar, Gayatri Vishwakarma, Manoj Kumar Panigrahi, Haristuti Verma, Mumtaz Saifi, Sanjeev Sharma, Simran Tandon, D C Doval, Bhudev C Das
BACKGROUND: IHC and FISH are used for categorizing HER 2 status in breast cancer at the protein and DNA level, respectively. HER 2 expression at the RNA level is quantitative, cheaper, easier to standardize and free from interobserver variation. METHODS: 115 consecutive patients were tested by IHC, FISH and RT-PCR (test cohort). Assuming FISH result to be the response variable, ROC curves for RT-PCR ratio were analyzed to label HER 2 negative, equivocal and positive cases as RT-PCR score 1, 2 and 3, respectively...
February 9, 2018: Breast Cancer: the Journal of the Japanese Breast Cancer Society
https://www.readbyqxmd.com/read/29426340/pd-l1-diagnostic-tests-a-systematic-literature-review-of-scoring-algorithms-and-test-validation-metrics
#4
REVIEW
Margarita Udall, Maria Rizzo, Juliet Kenny, Jim Doherty, SueAnn Dahm, Paul Robbins, Eric Faulkner
BACKGROUND: The programmed death receptor 1 (PD-1) protein is a cell-surface receptor on certain lymphocytes that, with its ligand programmed death ligand 1 (PD-L1), helps to down-regulate immune responses. Many cancer types express PD-L1 and evade immune recognition via the PD-1/PD-L1 interaction. Precision therapies targeting the PD-1/PD-L1 pathway have the potential to improve response and thereby offer a novel treatment avenue to some patients with cancer. However, this new therapeutic approach requires reliable methods for identifying patients whose cancers are particularly likely to respond...
February 9, 2018: Diagnostic Pathology
https://www.readbyqxmd.com/read/29410534/reimagining-the-diagnostic-pathway-for-gastrointestinal-cancer
#5
REVIEW
Greg Rubin, Fiona Walter, Jon Emery, Niek de Wit
A crisis is looming for the diagnosis of gastrointestinal cancers, one grounded only partly in the steady increase in their overall incidence. Public demand for diagnostic tests to be undertaken early and at lower levels of risk is reflected in early diagnosis being a widely held policy objective for reasons of both clinical outcome and patient experience. In the UK, urgent referrals for suspected lower gastrointestinal cancer have increased by 78% in the past 6 years, with parallel increases in endoscopy and imaging activity...
February 7, 2018: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29407013/contemporary-emergency-department-management-of-patients-with-chest-pain-a-concise-review-and-guide-for-the-high-sensitivity-troponin-era
#6
REVIEW
James E Andruchow, Peter A Kavsak, Andrew D McRae
This article synthesizes current best evidence for the evaluation of patients with suspected acute coronary syndrome (ACS) using high-sensitivity troponin assays, enabling physicians to effectively incorporate them into practice. Unlike conventional assays, high-sensitivity assays can precisely measure blood cardiac troponin concentrations in the vast majority of healthy individuals, facilitating the creation of rapid diagnostic algorithms. Very low troponin concentrations on presentation accurately rule out acute myocardial infarction (AMI) and enable the discharge of approximately 20% of patients after a single test, whereas an additional 30%-40% of patients can be safely discharged after short-interval serial sampling in as little as 1 or 2 hours...
February 2018: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29405076/tools-to-investigate-and-avoid-drug-hypersensitivity-in-drug-development
#7
Emanuela Corsini, Manuela Casula, Elena Tragni, Valentina Galbiati, Marc Pallardy
Drug hypersensitivity reactions (DHRs) are common adverse effects of pharmaceuticals that clinically resemble allergies, and which are becoming an important burden to healthcare systems. Alongside accurate diagnostic techniques, tools which can predict potential drug-inducing hypersensitivity reactions in the pre-clinical phase are critical. Despite the important adverse reactions linked to immune-mediated hypersensitivity, at present, there are no validated or required in vivo or in vitro methods to screen the sensitizing potential of drugs and their metabolites in the pre-clinical phase...
February 6, 2018: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/29404920/management-of-anemia-in-patients-with-inflammatory-bowel-disease-ibd
#8
REVIEW
Dhruvan Patel, Chinmay Trivedi, Nabeel Khan
PURPOSE OF REVIEW: Anemia is the most common complication as well as an extra intestinal manifestation of inflammatory bowel disease (IBD). It is associated with a significant impact on patient's quality of life (QoL); as well it represents a common cause of frequent hospitalization, delay of hospital inpatient discharge and overall increased healthcare burden. In spite of all these, anemia is still often underdiagnosed and undertreated. Our aim in this review is to provide a pathway for physicians to help them achieve early diagnosis as well as timely and appropriate treatment of anemia which in turn would hopefully reduce the prevalence and subsequent complications of this condition among IBD patients...
February 5, 2018: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/29402968/integrating-functional-analysis-in-the-next-generation-sequencing-diagnostic-pipeline-of-rasopathies
#9
Gordon K C Leung, H M Luk, Vincent H M Tang, W W Gao, Christopher C Y Mak, Mullin H C Yu, W L Wong, Yoyo W Y Chu, W L Yang, Wilfred H S Wong, Alvin C H Ma, Anskar Y H Leung, D Y Jin, Kelvin Y K Chan, Judith Allanson, Ivan F M Lo, Brian H Y Chung
RASopathies are a group of heterogeneous conditions caused by germline mutations in RAS/MAPK signalling pathway genes. With next-generation sequencing (NGS), sequencing capacity is no longer a limitation to molecular diagnosis. Instead, the rising number of variants of unknown significance (VUSs) poses challenges to clinical interpretation and genetic counselling. We investigated the potential of an integrated pipeline combining NGS and the functional assessment of variants for the diagnosis of RASopathies...
February 5, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29393467/expression-level-and-potential-target-pathways-of-mir-1-3p-in-colorectal-carcinoma-based-on-645%C3%A2-cases-from-9-microarray-datasets
#10
Jie-Yu Wang, Jia-Cheng Huang, Gang Chen, Dan-Ming Wei
For the purpose of demonstrating the clinical value and unraveling the molecular mechanisms of micro RNA (miR)-1-3p in colorectal carcinoma (CRC), the present study collected expression and diagnostic data from Gene Expression Omnibus (GEO), ArrayExpress and existing literature to conduct meta‑analyses and diagnostic tests. Furthermore, the potential targets of miR‑1‑3p were attained from datasets that transfected miR‑1‑3p into CRC cells, online prediction databases and differentially expressed genes from The Cancer Genome Atlas and literature...
February 1, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29388572/melioidosis
#11
REVIEW
W Joost Wiersinga, Harjeet S Virk, Alfredo G Torres, Bart J Currie, Sharon J Peacock, David A B Dance, Direk Limmathurotsakul
Burkholderia pseudomallei is a Gram-negative environmental bacterium and the aetiological agent of melioidosis, a life-threatening infection that is estimated to account for ∼89,000 deaths per year worldwide. Diabetes mellitus is a major risk factor for melioidosis, and the global diabetes pandemic could increase the number of fatalities caused by melioidosis. Melioidosis is endemic across tropical areas, especially in southeast Asia and northern Australia. Disease manifestations can range from acute septicaemia to chronic infection, as the facultative intracellular lifestyle and virulence factors of B...
February 1, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/29366504/diagnostic-imaging-in-neuro-ophthalmology
#12
A C Vela Marín, P Seral Moral, C Bernal Lafuente, B Izquierdo Hernández
Neuro-ophthalmology is a field combining neurology and ophthalmology that studies diseases that affect the visual system and the mechanisms that control eye movement and pupil function. Imaging tests make it possible to thoroughly assess the relevant anatomy and disease of the structures that make up the visual pathway, the nerves that control eye and pupil movement, and the orbital structures themselves. This article is divided into three sections (review of the anatomy, appropriate imaging techniques, and evaluation of disease according to clinical symptoms), with the aim of providing useful tools that will enable radiologists to choose the best imaging technique for the differential diagnosis of patients' problems to reach the correct diagnosis of their disease...
January 20, 2018: Radiología
https://www.readbyqxmd.com/read/29358427/the-suspected-cancer-scan-pathway-protocol-for-evaluating-a-new-standard-of-care-for-patients-with-non-specific-symptoms-of-cancer
#13
Brian D Nicholson, Jason Oke, Claire Friedemann Smith, Julie-Ann Phillips, Jennifer Lee, Lucy Abel, Sadie Kelly, Isabella Gould, Toni Mackay, Zoe Kaveney, Suzie Anthony, Shelley Hayles, Daniel Lasserson, Fergus Gleeson
INTRODUCTION: Cancer survival in England lags behind most European countries, due partly to lower rates of early stage diagnosis. We report the protocol for the evaluation of a multidisciplinary diagnostic centre-based pathway for the investigation of 'low-risk but not no-risk' cancer symptoms called the Suspected CANcer (SCAN) pathway. SCAN is a new standard of care being implemented in Oxfordshire; one of a number of pathways implemented during the second wave of the Accelerate, Coordinate, Evaluate (ACE) programme, an initiative which aims to improve England's cancer survival rates through establishing effective routes to early diagnosis...
January 21, 2018: BMJ Open
https://www.readbyqxmd.com/read/29332973/metabologenomics-of-phaeochromocytoma-and-paraganglioma-an-integrated-approach-for-personalised-biochemical-and-genetic-testing
#14
REVIEW
Graeme Eisenhofer, Barbara Klink, Susan Richter, Jacques Wm Lenders, Mercedes Robledo
The tremendous advances over the past two decades in both clinical genetics and biochemical testing of chromaffin cell tumours have led to new considerations about how these aspects of laboratory medicine can be integrated to improve diagnosis and management of affected patients. With germline mutations in 15 genes now identified to be responsible for over a third of all cases of phaeochromocytomas and paragangliomas, these tumours are recognised to have one of the richest hereditary backgrounds among all neoplasms...
April 2017: Clinical Biochemist. Reviews
https://www.readbyqxmd.com/read/29315054/ambulatory-management-of-pulmonary-embolism
#15
Houssam Abusibah, Muntasir M Abdelaziz, Peter Standen, Praveen Bhatia, Mahir Ma Hamad
The diagnosis of pulmonary embolism can be very difficult and elusive. It depends greatly on the use of diagnostic tests, which are in turn interpreted according to a pre-test clinical probability. These include non-specific tests such as the chest X-ray and electrocardiograph, which help exclude other conditions such as pneumonia or myocardial infarction. On the other hand, more specific tests such as computed tomography or ventilation/perfusion scanning are used to confirm or exclude the diagnosis of pulmonary embolism...
January 2, 2018: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/29314763/integrating-exome-sequencing-into-a-diagnostic-pathway-for-epileptic-encephalopathy-evidence-of-clinical-utility-and-cost-effectiveness
#16
Elizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, Tejaswi Kandula, Rebecca Macintosh, John A Lawson, Ian Andrews, Hugo Sampaio, Alexandra M Johnson, Michelle A Farrar, Michael Cardamone, David Mowat, George Elakis, William Lo, Ying Zhu, Kevin Ying, Paula Morris, Jiang Tao, Kerith-Rae Dias, Michael Buckley, Marcel E Dinger, Mark J Cowley, Tony Roscioli, Edwin P Kirk, Ann Bye, Rani K Sachdev
BACKGROUND: Epileptic encephalopathies are a devastating group of neurological conditions in which etiological diagnosis can alter management and clinical outcome. Exome sequencing and gene panel testing can improve diagnostic yield but there is no cost-effectiveness analysis of their use or consensus on how to best integrate these tests into clinical diagnostic pathways. METHODS: We conducted a retrospective cost-effectiveness study comparing trio exome sequencing with a standard diagnostic approach, for a well-phenotyped cohort of 32 patients with epileptic encephalopathy, who remained undiagnosed after "first-tier" testing...
January 4, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29305344/review-and-drug-therapy-implications-of-glucose-6-phosphate-dehydrogenase-deficiency
#17
REVIEW
Kristen D Belfield, Eric M Tichy
PURPOSE: The pathophysiology, diagnosis, and medication-use implications of glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common enzyme deficiency in humans, are reviewed. SUMMARY: Originally identified as favism in patients who experienced hemolysis after ingestion of fava beans, G6PD deficiency results from an X-linked chromosomal mutation that leads to reduced activity of the enzyme responsible for the final step of the pentose phosphate pathway, through which reduced nicotinamide adenine dinucleotide phosphate required for protection of cells from oxidative stress is produced...
February 1, 2018: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/29301613/testing-olfactory-function-and-mapping-the-structural-olfactory-networks-in-the-brain
#18
Alexander Fjældstad
We perceive the world through our senses. The dependence on these sensory stimuli becomes obvious when we see a visually impaired individual with a guide dog or an individual using sign language. However, individuals with olfactory deficits suffer from a more concealed impairment without any opportunity for diagnostics or treatment in the Danish healthcare system. Around a fifth of the population experience olfactory deficits, of which 1-2% are functionally anosmic. The personal consequences for anosmics can be extensive, lacking not only in hedonic yield related to eating and drinking, but also the socialization during dinners can become niggling...
January 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29300337/emerging-roles-for-vegf-d-in-human-disease
#19
REVIEW
Steven A Stacker, Marc G Achen
Blood vessels and lymphatic vessels are located in many tissues and organs throughout the body, and play important roles in a wide variety of prevalent diseases in humans. Vascular endothelial growth factor-D (VEGF-D) is a secreted protein that can promote the remodeling of blood vessels and lymphatics in development and disease. Recent fundamental and translational studies have provided insight into the molecular mechanisms by which VEGF-D exerts its effects in human disease. Hence this protein is now of interest as a therapeutic and/or diagnostic target, or as a potential therapeutic agent, in a diversity of indications in cardiovascular medicine, cancer and the devastating pulmonary condition lymphangioleiomyomatosis...
January 4, 2018: Biomolecules
https://www.readbyqxmd.com/read/29298209/electrophysiology-of-cranial-nerve-testing-trigeminal-and-facial-nerves
#20
Iryna M Muzyka, Bachir Estephan
The clinical examination of the trigeminal and facial nerves provides significant diagnostic value, especially in the localization of lesions in disorders affecting the central and/or peripheral nervous system. The electrodiagnostic evaluation of these nerves and their pathways adds further accuracy and reliability to the diagnostic investigation and the localization process, especially when different testing methods are combined based on the clinical presentation and the electrophysiological findings. The diagnostic uniqueness of the trigeminal and facial nerves is their connectivity and their coparticipation in reflexes commonly used in clinical practice, namely the blink and corneal reflexes...
January 2018: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
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