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https://www.readbyqxmd.com/read/29451781/multiple-snps-detection-based-on-lateral-flow-assay-for-phenylketonuria-diagnostic
#1
Xiaonan Liu, Chao Zhang, Kewu Liu, Han Wang, Chaoxia Lu, Hang Li, Kai Hua, Juanli Zhu, Wenli Hui, Yali Cui, Xue Zhang
Single nucleotide polymorphisms (SNPs) are closely related to genetic diseases, but current SNP detection methods, such as DNA microarrays that include tedious procedures and expensive, sophisticated instruments, are unable to perform rapid SNPs detection in clinical practice, especially for those multiple SNPs related to genetic diseases. In this study, we report a sensitive, low cost, and easy-to-use point-of-care testing (POCT) system formed by combining amplification refractory mutation system (ARMS) polymerase chain reaction with gold magnetic nanoparticles (GMNPs) and lateral flow assay (LFA) noted as the ARMS-LFA system, which allow us to use a uniform condition for multiple SNPs detection simultaneously...
February 16, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29451515/-promoting-evidence-based-gastroenterology-back-to-the-future
#2
Maurizio Koch
Evidence-based medicine continues to thrive thanks to the publication of a considerable amount of papers focusing on data collection and sharing. Assessment of the accuracy of diagnostic tests still remains highly deficient, often leading to inappropriate clinical decision-making. Like most other doctors, gastroenterologists as well have to face the ever-growing availability of complex and expensive exams, being charged with the task of choosing the best diagnostic option and interpreting test results. It is therefore advisable to provide specialists with the tools they need to evaluate the available literature data...
January 2018: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/29447803/maternal-knowledge-and-attitudes-to-universal-newborn-hearing-screening-reviewing-an-established-program
#3
Maggie Yee Yan Lam, Eddie Chi Ming Wong, Chi Wai Law, Helena Hui Ling Lee, Bradley McPherson
OBJECTIVES: To facilitate early diagnosis of infants with hearing loss, a universal newborn hearing screening program (UNHS) has been implemented in Hong Kong's public hospitals for over a decade. However, there have been no known studies investigating parent attitudes to, and satisfaction with, UNHS since its launch in Hong Kong. The present study aimed to investigate knowledge of UNHS as well as infant hearing development, and attitudes and satisfaction with UNHS, in Hong Kong mothers with newborns...
February 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29446570/gratitude-protective-buffering-and-cognitive-dissonance-how-families-respond-to-pediatric-whole-exome-sequencing-in-the-absence-of-actionable-results
#4
Allison Werner-Lin, Lori Zaspel, Mae Carlson, Rebecca Mueller, Sarah A Walser, Ria Desai, Barbara A Bernhardt
Clinical genome and exome sequencing (CGES) may identify variants leading to targeted management of existing conditions. Yet, CGES often fails to identify pathogenic diagnostic variants and introduces uncertainties by detecting variants of uncertain significance (VUS) and secondary findings. This study investigated how families understand findings and adjust their perspectives on CGES. As part of NIH's Clinical Sequencing Exploratory Research Consortium, children were recruited from clinics at the Children's Hospital of Pennsylvania (CHOP) and offered exome sequencing...
March 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29444904/mutation-in-an-alternative-transcript-of-cdkl5-in-a-boy-with-early-onset-seizures
#5
Dale L Bodian, John M Schreiber, Thierry Vilboux, Alina Khromykh, Natalie S Hauser
Infantile-onset epilepsies are a set of severe, heterogeneous disorders for which clinical genetic testing yields causative mutations in ~20-50% of affected individuals. We report the case of a boy presenting with intractable seizures at 2 weeks of age, for whom gene panel testing was unrevealing. Research-based whole genome sequencing of the proband and four unaffected family members identified a de novo mutation, NM_001323289.1:c.2828_2829delGA in CDKL5, a gene associated with X-linked early infantile epileptic encephalopathy 2...
February 14, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29442480/cushing-s-disease-major-difficulties-in-diagnosis-and-management-during-pregnancy
#6
Francisca Caimari, Rosa Corcoy, Susan M Webb
Pregnancy in women with a diagnosis of Cushing' syndrome (CS) is an extremely rare event and its diagnosis and treatment are a real medical challenge. During pregnancy, the hypothalamus-pituitary-adrenal axis undergoes major changes leading to a significant increase in plasma cortisol levels throughout gestation. The difficulties in diagnosis are related to the resemblance of symptoms of CS and those of pregnancy, and to the complex interpretation of the screening tests. Moreover, the diagnostic work up in the postnatal period may be difficult in the first weeks postpartum...
February 13, 2018: Minerva Endocrinologica
https://www.readbyqxmd.com/read/29441163/in-with-acute-bronchitis-out-with-duodenal-perforation-the-potentially-harmful-cascade-of-over-testing-a-case-report
#7
Karamjit Dhaliwal, Victoria Malkhasyan, Mohammed Elhassan
Overutilization of diagnostic imaging can lead to unnecessary interventions and subsequently can jeopardize patient safety. When ordered, the results of these images should always be interpreted in the appropriate clinical context taking into consideration the patient clinical presentation and the natural history of the diseases which are being investigated. We presented a case that demonstrates for the practicing physicians how violating these two notions can lead ultimately to patient harm.
2018: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29439009/her2-testing-of-gastro-oesophageal-adenocarcinoma-a-commentary-and-guidance-document-from-the-association-of-clinical-pathologists-molecular-pathology-and-diagnostics-committee
#8
REVIEW
Newton A C S Wong, Fernanda Amary, Rachel Butler, Richard Byers, David Gonzalez, Harry R Haynes, Mohammad Ilyas, Manuel Salto-Tellez, Philippe Taniere
The use of biologics targeted to the human epidermal growth factor receptor 2 (HER2) protein is the latest addition to the armamentarium used to fight advanced gastric or gastro-oesophageal junction adenocarcinoma. The decision to treat with the biologic trastuzumab is completely dependent on HER2 testing of tumour tissue. In 2017, the College of American Pathologists, American Society for Clinical Pathology and the American Society of Clinical Oncology jointly published guidelines for HER2 testing and clinical decision making in gastro-oesophageal adenocarcinoma...
February 8, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29435834/physician-assistants-and-nurse-practitioners-in-head-and-neck-surgery
#9
Chrysanta Patio, Nabilah Ali, Jill Ketner, Candy Young, Esther Chou, Carrie Chong, Wanchi Su
This chapter explores the role of advanced practice clinicians (APCs) and patient care coordinators in the head and neck cancer setting. APCs, which include physician assistants (PAs) and nurse practitioners (NPs), are licensed professional healthcare providers who diagnose and treat illnesses, order and interpret diagnostic tests, and prescribe pharmaceutical and non-pharmaceutical therapies. Although the training, education, and licensure differ between PAs and NPs, their roles are quite similar in head and neck surgery...
2018: Cancer Treatment and Research
https://www.readbyqxmd.com/read/29435801/cosmin-guideline-for-systematic-reviews-of-patient-reported-outcome-measures
#10
C A C Prinsen, L B Mokkink, L M Bouter, J Alonso, D L Patrick, H C W de Vet, C B Terwee
PURPOSE: Systematic reviews of patient-reported outcome measures (PROMs) differ from reviews of interventions and diagnostic test accuracy studies and are complex. In fact, conducting a review of one or more PROMs comprises of multiple reviews (i.e., one review for each measurement property of each PROM). In the absence of guidance specifically designed for reviews on measurement properties, our aim was to develop a guideline for conducting systematic reviews of PROMs. METHODS: Based on literature reviews and expert opinions, and in concordance with existing guidelines, the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) steering committee developed a guideline for systematic reviews of PROMs...
February 12, 2018: Quality of Life Research
https://www.readbyqxmd.com/read/29435671/a-new-spect-ct-reconstruction-algorithm-reliability-and-accuracy-in-clinical-routine-for-non-oncologic-bone-diseases
#11
Olivier Delcroix, Philippe Robin, Maelenn Gouillou, Alexandra Le Duc-Pennec, Zarrin Alavi, Pierre-Yves Le Roux, Ronan Abgral, Pierre-Yves Salaun, David Bourhis, Solène Querellou
BACKGROUND: xSPECT Bone® (xB) is a new reconstruction algorithm developed by Siemens® in bone hybrid imaging (SPECT/CT). A CT-based tissue segmentation is incorporated into SPECT reconstruction to provide SPECT images with bone anatomy appearance. The objectives of this study were to assess xB/CT reconstruction diagnostic reliability and accuracy in comparison with Flash 3D® (F3D)/CT in clinical routine. Two hundred thirteen consecutive patients referred to the Brest Nuclear Medicine Department for non-oncological bone diseases were evaluated retrospectively...
February 12, 2018: EJNMMI Research
https://www.readbyqxmd.com/read/29432235/genetic-diagnostics-for-neurologists
#12
Laura Silveira-Moriyama, Alex R Paciorkowski
PURPOSE OF REVIEW: This article puts advances in the field of neurogenetics into context and provides a quick review of the broad concepts necessary for current practice in neurology. RECENT FINDINGS: The exponential growth of genetic testing is due to its increased speed and decreasing cost, and it is now a routine part of the clinical care for a number of neurologic patients. In addition, phenotypic pleiotropy (mutations in the same gene causing very disparate phenotypes) and genetic heterogeneity (the same clinical phenotype resulting from mutations in different genes) are now known to exist in a number of conditions, adding an additional layer of complexity for genetic testing in these disorders...
February 2018: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/29430338/test-retest-reproducibility-of-the-microperimeter-mp3-with-fundus-image-tracking-in-healthy-subjects-and-patients-with-macular-disease
#13
Stefan Palkovits, Nino Hirnschall, Stefan Georgiev, Christoph Leisser, Oliver Findl
Purpose: To evaluate the test-retest reproducibility of a novel microperimeter with fundus image tracking (MP3, Nidek Co, Japan) in healthy subjects and patients with macular disease. Methods: Ten healthy subjects and 20 patients suffering from range of macular diseases were included. After training measurements, two additional microperimetry measurements were scheduled. Test-retest reproducibility was assessed for mean retinal sensitivity, pointwise sensitivity, and deep scotoma size using the coefficient of repeatability and Bland-Altman diagrams...
February 2018: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/29428212/computed-tomography-window-blending-feasibility-in-thoracic-trauma
#14
Jacob C Mandell, Jeremy R Wortman, Tatiana C Rocha, Les R Folio, Katherine P Andriole, Bharti Khurana
RATIONALE AND OBJECTIVES: This study aims to demonstrate the feasibility of processing computed tomography (CT) images with a custom window blending algorithm that combines soft-tissue, bone, and lung window settings into a single image; to compare the time for interpretation of chest CT for thoracic trauma with window blending and conventional window settings; and to assess diagnostic performance of both techniques. MATERIALS AND METHODS: Adobe Photoshop was scripted to process axial DICOM images from retrospective contrast-enhanced chest CTs performed for trauma with a window-blending algorithm...
February 7, 2018: Academic Radiology
https://www.readbyqxmd.com/read/29427547/the-importance-of-detecting-anti-dfs70-in-routine-clinical-practice-comparison-of-different-care-settings
#15
Carolien Bonroy, Sofie Schouwers, Mario Berth, Muriel Stubbe, Yves Piette, Ilse Hoffman, Katrien Devreese, Lieve Van Hoovels
BACKGROUND: Screening for antinuclear antibodies by indirect immunofluorescence (ANA-IIF) is essential in the diagnostic workup of ANA-associated autoimmune rheumatic diseases (AARDs). However, also healthy individuals may test positive, making the interpretation challenging. Recent reports suggest that dense fine speckled 70 antibodies (anti-DFS70) may facilitate this challenge. Here, we investigate their clinical importance based on data from four Belgian laboratories (one primary, two secondary and one tertiary care)...
February 10, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29425749/development-of-a-lateral-flow-recombinase-polymerase-assay-for-the-diagnosis-of-schistosoma-mansoni-infections
#16
Kate Poulton, Bonnie Webster
Infection with Schistosoma mansoni causes intestinal schistosomiasis, a major health problem across Africa. The accurate diagnosis of intestinal schistosomiasis is vital to inform surveillance/control programs. Diagnosis mainly relies on microscopic detection of eggs in faecal samples but many factors affect sensitivity. Molecular diagnostics are sensitive and specific but application is limited as necessary infrastructure, financial resources and skilled personnel are often lacking in endemic settings. Recombinase Polymerase Amplification (RPA) is an isothermal DNA amplification/detection technology that is practical in nearly any setting...
February 6, 2018: Analytical Biochemistry
https://www.readbyqxmd.com/read/29425271/lyme-disease-testing-in-a-high-incidence-state-clinician-knowledge-and-patterns
#17
Joanna L Conant, Julia Powers, Gregory Sharp, Paul S Mead, Christina A Nelson
Objectives: Lyme disease (LD) incidence is increasing, but data suggest some clinicians are not fully aware of recommended procedures for ordering and interpreting diagnostic tests. The study objective was to assess clinicians' knowledge and practices regarding LD testing in a high-incidence region. Methods: We distributed surveys to 1,142 clinicians in the University of Vermont Medical Center region, of which 144 were completed (12.6% response rate). We also examined LD laboratory test results and logs of calls to laboratory customer service over a period of 2...
February 7, 2018: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29422356/will-68ga-psma-radioligands-be-the-only-choice-for-nuclear-medicine-in-prostate-cancer-in-the-near-future-a-clinical-update
#18
V Cuccurullo, G D di Stasio, L Evangelista, A Ciarmiello, L Mansi
Prostate Cancer (PCa) represents the most common malignant tumor in men but according to the European Association of Urology (EAU) guidelines, a mass screening for PCa diagnosis should not be performed due to over-diagnosis and over-treatment related problems. An early clinical diagnosis is possible, mainly based on digital rectal examination and Prostatic Specific Agent (PSA) testing. However, the only mandatory test to define the presence of PCa is ultrasound guided-biopsy, obtained on multiple samples, which has also a high prognostic value...
February 5, 2018: Revista Española de Medicina Nuclear e Imagen Molecular
https://www.readbyqxmd.com/read/29420822/bifactor-modeling-of-the-positive-and-negative-syndrome-scale-generalized-psychosis-spans-schizoaffective-bipolar-and-schizophrenia-diagnoses
#19
Ariana E Anderson, Stephen Marder, Steven P Reise, Adam Savitz, Giacomo Salvadore, Dong Jing Fu, Qingqin Li, Ibrahim Turkoz, Carol Han, Robert M Bilder
Objective: Common genetic variation spans schizophrenia, schizoaffective and bipolar disorders, but historically, these syndromes have been distinguished categorically. A symptom dimension shared across these syndromes, if such a general factor exists, might provide a clearer target for understanding and treating mental illnesses that share core biological bases. Method: We tested the hypothesis that a bifactor model of the Positive and Negative Syndrome Scale (PANSS), containing 1 general factor and 5 specific factors (positive, negative, disorganized, excited, anxiety), explains the cross-diagnostic structure of symptoms better than the traditional 5-factor model, and examined the extent to which a general factor reflects the overall severity of symptoms spanning diagnoses in 5094 total patients with a diagnosis of schizophrenia, schizoaffective, and bipolar disorder...
February 6, 2018: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/29420464/potential-confounding-of-diagnosis-of-rabies-in-patients-with-recent-receipt-of-intravenous-immune-globulin
#20
Neil M Vora, Lillian A Orciari, J Bradford Bertumen, Inger Damon, James A Ellison, Vance G Fowler, Richard Franka, Brett W Petersen, P S Satheshkumar, Stephen M Schexnayder, Todd G Smith, Ryan M Wallace, Susan Weinstein, Carl Williams, Pamela Yager, Michael Niezgoda
Rabies is an acute encephalitis that is nearly always fatal. It is caused by infection with viruses of the genus Lyssavirus, the most common of which is Rabies lyssavirus. The Council of State and Territorial Epidemiologists (CSTE) defines a confirmed human rabies case as an illness compatible with rabies that meets at least one of five different laboratory criteria.* Four of these criteria do not depend on the patient's rabies vaccination status; however, the remaining criterion, "identification of Lyssavirus-specific antibody (i...
February 9, 2018: MMWR. Morbidity and Mortality Weekly Report
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