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diagnostic test interpretation

Mustafa Q Hameed, David Zurakowski, Mark R Proctor, Scellig S D Stone, Benjamin C Warf, Edward R Smith, Liliana C Goumnerova, Marek Swoboda, Tomer Anor, Joseph R Madsen
BACKGROUND: While a noninvasive flow determination would be desirable in the diagnosis of cerebrospinal fluid shunt malfunction, existing studies have not yet defined a role for thermal flow detection. OBJECTIVE: To evaluate a revised test protocol using a micropumper designed to transiently enhance flow during thermal testing to determine whether thermal detection of flow is associated with progression to shunt revision surgery. METHODS: Eighty-two unique tests were performed in 71 shunts...
June 16, 2018: Neurosurgery
Bertrand Rochat, Rayane Mohamed, Pierre-Edouard Sottas
Today’s high-resolution mass spectrometers (HRMS) allow bioanalysts to perform untargeted/global determinations that can reveal unexpected compounds or concentrations in a patient’s sample. This could be performed for preliminary diagnosis attempts when usual diagnostic processes and targeted determinations fail. We have evaluated an untargeted diagnostic screening (UDS) procedure. UDS is a metabolome analysis that compares one sample (e.g., a patient) with control samples (a healthy population)...
June 15, 2018: Metabolites
Satu K Jääskeläinen, Heli Forssell, Olli Tenovuo, Riitta Parkkola
This case report elucidates pitfalls of clinical and radiologic investigations of neuropathic pain due to trigeminal pathology, and utility of neurophysiologic examination when diagnosing facial pain. Our patient was a 63-year-old woman who developed acute, severe facial pain, first located behind the left eye. Neuralgic exacerbations, paresthesia within lower face on the left and restricted mouth opening occurred during the course of the disease with gradual progression. Brain MRI and CT scans were interpreted as normal at 4 and 10 months after symptom onset...
December 29, 2017: Scandinavian Journal of Pain
Bernice J Klotoe, Barbara Molina-Moya, Harrison Magdinier Gomes, Michel K Gomgnimbou, Lorenna Oliveira Suzarte, Maria H Féres Saad, Sajid Ali, José Dominguez, Edita Pimkina, Elena Zholdybayeva, Christophe Sola, Guislaine Refrégier
Several diagnostic tests are being developed to detect drug resistance in tuberculosis. In line with previous developments detecting rifampicin and isoniazid resistance using microbead-based systems (spoligoriftyping and TB-SPRINT), we present here an assay called TB-EFI detecting mutations involved in resistance to ethambutol, fluoroquinolones and the three classical injectable drugs (kanamycin, amikacin and capreomycin) in Mycobacterium tuberculosis. The proposed test includes both wild-type and mutant probes for each targeted locus...
June 15, 2018: Journal of Microbiological Methods
Praphathip Eamsobhana, Anchalee Tungtrongchitr, Darawan Wanachiwanawin, Hoi-Sen Yong
OBJECTIVES: The serological diagnosis of human infection with Angiostrongylus cantonensis remains problematic because there are no commercially available validated tests. Most laboratories use domestically prepared tests such as the enzyme-linked immunosorbent assay (ELISA) or immunoblotting. Since laboratory facilities are not always available in endemic areas, we developed and assessed a rapid lateral flow immunochromatographic assay (AcQuickDx Test) to detect anti-A. cantonensis antibodies in human serum...
June 13, 2018: International Journal of Infectious Diseases: IJID
Tom De Smedt, Elizabeth Merrall, Denis Macina, Silvia Perez-Vilar, Nick Andrews, Kaatje Bollaerts
BACKGROUND: Studies of vaccine effectiveness (VE) rely on accurate identification of vaccination and cases of vaccine-preventable disease. In practice, diagnostic tests, clinical case definitions and vaccination records often present inaccuracies, leading to biased VE estimates. Previous studies investigated the impact of non-differential disease misclassification on VE estimation. METHODS: We explored, through simulation, the impact of non-differential and differential disease- and exposure misclassification when estimating VE using cohort, case-control, test-negative case-control and case-cohort designs...
2018: PloS One
Eugen Boltshauser, Konrad P Weber
This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, other vitamin deficiencies, and endocrine disorders should also be kept in mind...
2018: Handbook of Clinical Neurology
J F Vázquez-Costa, M Martínez-Molina, M Fernández-Polo, V Fornés-Ferrer, M Frasquet-Carrera, T Sevilla-Mantecón
INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is an insidious, clinically heterogeneous neurodegenerative disease associated with a diagnostic delay of approximately 12 months. No study conducted to date has analysed the diagnostic pathway in Spain. METHODS: We gathered data on variables related to the diagnostic pathway and delay for patients diagnosed with ALS between October 2013 and July 2017. RESULTS: The study included 143 patients with ALS (57% men; 68% spinal onset)...
June 11, 2018: Neurología: Publicación Oficial de la Sociedad Española de Neurología
Alan Rozanski, Daniel S Berman
PURPOSE OF REVIEW: This review aims to assess the synergistic use of coronary artery calcium (CAC) scanning and stress-rest SPECT myocardial perfusion imaging (MPI) for the workup of patients with suspected coronary artery disease (CAD). RECENT FINDINGS: The CAC score bears a proportional relationship to both the frequency of obstructive CAD and inducible ischemia. Consequently, the test can be used to improve the Bayesian assessment of pre-test CAD likelihood and assist in triaging patients for stress testing...
June 13, 2018: Current Cardiology Reports
Alexander L Greninger
Diagnostic metagenomics and its associated trail of publications are spreading across the world. Multiple clinical labs in the United States, Europe, and Asia have gone to considerable lengths to optimize and validate a range of protocols for agnostically detecting viral, bacterial, fungal, and eukaryotic parasite nucleic acid across a range of patient specimens to aid in diagnosis for particularly recalcitrant cases. Others see a role for diagnostic metagenomics as a front-line diagnostic to replace other microbiological testing...
June 14, 2018: Expert Review of Molecular Diagnostics
Smriti Mishra, Mohammad I Shah, Malay Sarkar, Nimisha Asati, Chittaranjan Rout
Interstitial lung diseases (ILDs) are a diverse group of ∼200 acute and chronic pulmonary disorders that are characterized by variable amounts of inflammation, fibrosis and architectural distortion with substantial morbidity and mortality. Inaccurate and delayed diagnoses increase the risk, especially in developing countries. Studies have indicated the significant roles of genetic elements in ILDs pathogenesis. Therefore, the first genetic knowledge resource, ILDgenDB, has been developed with an objective to provide ILDs genetic data and their integrated analyses for the better understanding of disease pathogenesis and identification of diagnostics-based biomarkers...
January 1, 2018: Database: the Journal of Biological Databases and Curation
Jing Chen, Huan Xu, Anil Jegga, Kejian Zhang, Pete S White, Ge Zhang
PURPOSE: To improve the accuracy of matching rare genetic diseases based on patient's phenotypes. METHODS: We introduce new methods to prioritize diagnosis of genetic diseases based on integrated semantic similarity (method 1) and ontological overlap (method 2) between the phenotypes expressed by a patient and phenotypes annotated to known diseases. RESULTS: We evaluated the performance of our methods by two sets of simulated data and one set of patient's data derived from electronic health records...
June 12, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Christina Wei, Elizabeth Crowne
Endocrine abnormalities are common among childhood cancer survivors. Abnormalities of the hypothalamic-pituitary-adrenal axis (HPAA) are the least common, but the consequences are severe if missed. Patients with tumours located and /or had surgery performed near the hypothalamic-pituitary region and those treated with an accumulative cranial radiotherapy dose of over 30 Gy are most at risk of adrenocorticotrophic hormone (ACTH) deficiency. Primary adrenal insufficiency may occur in patients with tumours located in or involving one or both adrenals...
June 12, 2018: Endocrine-related Cancer
Romain Siriez, Jonathan Evrard, Jean-Michel Dogné, Lionel Pochet, Damien Gheldof, Bernard Chatelain, François Mullier, Jonathan Douxfils
INTRODUCTION:  Betrixaban is a novel direct oral factor Xa inhibitor approved by the Food and Drug Administration for prophylaxis of venous thromboembolism in adult patients hospitalized for an acute illness at risk for thromboembolic complications. Assessment of the anti-coagulant effect of betrixaban may be useful in some situations. Also, clinicians need to know how routine coagulation assays are influenced. OBJECTIVE:  The aim of this study is to determine which coagulation assay(s) should be used to assess the impact of betrixaban on haemostasis and provide laboratory guidance for their interpretation...
June 11, 2018: Thrombosis and Haemostasis
Subha Madhavan, Deborah Ritter, Christine Micheel, Shruti Rao, Angshumoy Roy, Dmitriy Sonkin, Matthew Mccoy, Malachi Griffith, Obi L Griffith, Peter Mcgarvey, Shashikant Kulkarni
In the last 3-5 years, there has been a rapid increase in clinical use of next generation sequencing (NGS) based cancer molecular diagnostic (MolDx) testing to develop better treatment plans with targeted therapies. To truly achieve precision oncology, it is critical to catalog cancer sequence variants from MolDx testing for their clinical relevance along with treatment information and patient outcomes, and to do so in a way that supports large-scale data aggregation and new hypothesis generation. Through the NIH-funded Clinical Genome Resource (ClinGen), in collaboration with NLM's ClinVar database and >50 academic and industry based cancer research organizations, a Minimal Variant Level Data (MVLD) framework to standardize reporting and interpretation of drug associated alterations was developed...
2018: AMIA Summits on Translational Science Proceedings
Lulu Zhang, Stephanie P Yen, Marc A Seltzer, George P Thomas, Kristen Willis, Alan Siegel
Rationale: Cerebral perfusion SPECT and 18 F-FDG PET/CT are commonly performed diagnostic procedures for patients suffering from epilepsy. Individuals receiving these tests are often in-patients undergoing examinations with EEG leads. We have routinely removed these leads before these tests due to concerns that they would lead to imaging artifacts. The leads would then be replaced at the conclusion of the scan. The goal of our study was to determine if the EEG leads actually do cause artifacts that could lead to erroneous scan interpretation or make the scan uninterpretable...
June 8, 2018: Journal of Nuclear Medicine Technology
Grzegorz Grodkowski, Tomasz Sakowski, Kamila Puppel, Tony Baars
In recent years we have seen the rapid development of different devices which can be helpful in the daily work of livestock farmers. The growing size of livestock herds has led farmers to lose individual contact with their animals while behavioral studies show that breeders can effectively and precisely monitor a herd of up to 100 cows. This was the main motivation for this study, which aims to identify and test various electronic devices which provide useful herd management data, including: estrus detection, individual activity and body temperature measurement, monitoring rumen pH levels, milk quality and content as well as milk temperature and SCC measurements...
June 7, 2018: Journal of the Science of Food and Agriculture
DaeHee Kim, Jeffrey A Rhodes, Jeffrey A Hashim, Lawrence Rickabaugh, David M Brams, Edward Pinkus, Yamin Dou
INTRODUCTION: Highly specific preoperative localizing test is required to select patients for minimally invasive parathyroidectomy (MIP) in lieu of traditional four-gland exploration. We hypothesized that Tc-99m sestamibi scan interpretation incorporating numerical measurements on the degree of asymmetrical activity from bilateral thyroid beds can be useful in localizing single adenoma for MIP. METHODS: We devised a quantitative interpretation method for Tc-99m sestamibi scan based on the numerically graded asymmetrical activity on early phase...
June 7, 2018: Journal of Medical Imaging and Radiation Oncology
Francesco Mazzarotto, Francesca Girolami, Beatrice Boschi, Fausto Barlocco, Alessia Tomberli, Katia Baldini, Raffaele Coppini, Ilaria Tanini, Sara Bardi, Elisa Contini, Franco Cecchi, Elisabetta Pelo, Stuart A Cook, Elisabetta Cerbai, Corrado Poggesi, Francesca Torricelli, Roddy Walsh, Iacopo Olivotto
PURPOSE: Genetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger sequencing of sarcomeric genes. The advent of next-generation sequencing (NGS) has catalyzed routine testing of additional genes of dubious HCM-causing potential. We used 19 years of genetic testing results to define a reliable set of genes implicated in Mendelian HCM and assess the value of expanded NGS panels. METHODS: We dissected genetic testing results from 1,198 single-center HCM probands and devised a widely applicable score to identify which genes yield effective results in the diagnostic setting...
June 6, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Jung Min Ko, Kyung Sun Park, Yeeok Kang, Seong Hyeuk Nam, Yoonjung Kim, Inho Park, Hyun Wook Chae, Soon Min Lee, Kyung A Lee, Jong Won Kim
PURPOSE: We developed a new workflow design which included results from both biochemical and targeted gene sequencing analysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit of this new approach in newborn screening (NBS) and demonstrated the efficiency of this workflow in detecting causative genetic variants. MATERIALS AND METHODS: Ten patients in Group 1 were diagnosed clinically using biochemical assays only, and 10 newborns in Group 2 were diagnosed with suspected inherited metabolic disease (IMD) in NBS...
July 2018: Yonsei Medical Journal
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