keyword
MENU ▼
Read by QxMD icon Read
search

diagnostic test interpretation

keyword
https://www.readbyqxmd.com/read/28440912/performance-of-in-silico-tools-for-the-evaluation-of-p16ink4a-cdkn2a-variants-in-cagi
#1
Marco Carraro, Giovanni Minervini, Manuel Giollo, Yana Bromberg, Emidio Capriotti, Rita Casadio, Roland Dunbrack, Lisa Elefanti, Pietro Fariselli, Carlo Ferrari, Julian Gough, Panagiotis Katsonis, Emanuela Leonardi, Olivier Lichtarge, Chiara Menin, Pier Luigi Martelli, Abhishek Niroula, Lipika R Pal, Susanna Repo, Maria Chiara Scaini, Mauno Vihinen, Qiong Wei, Qifang Xu, Yuedong Yang, Yizhou Yin, Jan Zaucha, Huiying Zhao, Yaoqi Zhou, Steven E Brenner, John Moult, Silvio C E Tosatto
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is a diagnostic challenge as genetic screenings gain in popularity in the next-generation sequencing era. The Critical Assessment of Genome Interpretation (CAGI) experiment aims to test and define the state of the art of genotype-phenotype interpretation. Here, we present the assessment of the CAGI p16INK4a challenge. Participants were asked to predict the effect on cellular proliferation of ten variants for the p16INK4a tumor suppressor, a cyclin-dependent kinase inhibitor encoded by the CDKN2A gene...
April 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28439218/pediatric-reference-intervals-for-biochemical-markers-gaps-and-challenges-recent-national-initiatives-and-future-perspectives
#2
Houman Tahmasebi, Victoria Higgins, Angela W S Fung, Dorothy Truong, Nicole M A White-Al Habeeb, Khosrow Adeli
Reference intervals provide valuable information to medical practitioners in their interpretation of quantitative laboratory test results, and are critical in the assessment of patient health and in clinical decision-making. The reference interval serves as a health-associated benchmark with which to compare an individual test result. While the concept of reference intervals and their utility appear straightforward, the process of establishing accurate and reliable reference intervals is considerably complex and involved...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28438867/magnetic-resonance-imaging-assessment-of-lipomatous-soft-tissue-tumors
#3
Alessandro Coran, Paolo Ortolan, Shady Attar, Enrico Alberioli, Egle Perissinotto, Anna Lisa Tosi, Maria Cristina Montesco, Carlo Riccardo Rossi, Saveria Tropea, Marco Rastrelli, Roberto Stramare
AIM: To establish the accuracy of magnetic resonance imaging (MRI) in distinguishing between benign and malignant lipomatous tumors; to evaluate the reproducibility of the MRI interpretation assessing the agreement between judgments of two radiologists with the same experience in soft-tissue sarcomas; to identify an association among MRI findings (size, depth, septa, nodules, signal homogeneity) and nature of the lesion. MATERIALS AND METHODS: A total of 54 patients (28 men and 26 women), with a mean age of 56 (range=27-84) were included years...
May 2017: In Vivo
https://www.readbyqxmd.com/read/28438393/use-of-the-entericbio-gastro-panel-ii-in-a-diagnostic-microbiology-laboratory-challenges-and-opportunities
#4
Gary McAuliffe, Liselle Bissessor, Deborah Williamson, Sharon Moore, Janet Wilson, Muriel Dufour, Susan Taylor, Arlo Upton
We sought to verify the performance of the EntericBio real-time Gastro Panel 2 (GP2; Serosep, Ireland) assay targeting Salmonella, Shigella, Campylobacter, verotoxin producing E. coli (VTEC), Giardia, and Cryptosporidium in a high-throughput diagnostic laboratory. Following a technical verification period where 237 faecal samples were tested in parallel, guided culture and discrepancy analysis were performed. A total of 13,223 faecal samples were screened by the GP2 assay. During technical verification, sensitivity, specificity, negative and positive predictive value of the GP2 assay compared with conventional methods were 100% (83-100%), 98% (96...
April 21, 2017: Pathology
https://www.readbyqxmd.com/read/28436033/assessing-impact-direction-in-3-point-bending-of-human-femora-incomplete-butterfly-fractures-and-fracture-surfaces
#5
Mariyam I Isa, Todd W Fenton, Trevor Deland, Roger C Haut
Current literature associates bending failure with butterfly fracture, in which fracture initiates transversely at the tensile surface of a bent bone and branches as it propagates toward the impact surface. The orientation of the resulting wedge fragment is often considered diagnostic of impact direction. However, experimental studies indicate bending does not always produce complete butterfly fractures or produces wedge fragments variably in tension or compression, precluding their use in interpreting directionality...
April 23, 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/28429549/is-there-a-practical-role-for-a-virtual-bone-biopsy-using-high-resolution-imaging-of-bone-in-patients-with-chronic-kidney-disease
#6
Ashish K Sharma, Nigel D Toussaint
Renal osteodystrophy (ROD) refers to alterations in bone turnover, mineralisation, mass and microarchitecture in patients with chronic kidney disease (CKD) and represents the skeletal component of 'CKD-mineral and bone disorder'. Changes in bone structure lead to impaired bone quality, compromised bone strength and increased susceptibility to fractures with associated significant morbidity, mortality and financial cost. Diagnosis and management of ROD is hindered by the inadequacy of currently available diagnostic methods to interpret the complex pathophysiology...
March 2017: Nephrology
https://www.readbyqxmd.com/read/28429425/accuracy-of-cytology-in-sub-typing-non-small-cell-lung-carcinomas
#7
Trupti S Patel, Majal G Shah, Jahnavi S Gandhi, Pratik Patel
BACKGROUND: Sub typing of non small cell lung carcinoma (NSCLC) has an important task in the era of molecular and targeted therapies. Differentiating between squamous cell carcinoma (SQCC) and adenocarcinoma (ADC) is challenging when limited material is available in lung carcinoma. We investigated the accuracy and feasibility of sub typing NSCLCs in cytology and small biopsy material. METHODS: Concurrent cytology and biopsy material obtained in a single CT- guided procedure in lung carcinoma over a year period retrospectively...
April 21, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28427300/object-decision-test-borb-normative-data-for-the-adult-quebec-population-and-performance-in-alzheimer-s-disease-and-the-semantic-variant-of-primary-progressive-aphasia
#8
Alexandre St-Hilaire, Marie-Claude Blackburn, Maximiliano A Wilson, Robert Jr Laforce, Carol Hudon, Joël Macoir
Object decision (OD) test is one subtest of the Birmingham Object Recognition Battery (BORB). It is useful for differential diagnosis among several neurodegenerative diseases. However, normative data provided with this battery count on very few subjects and do not control for the effect of age, which limits interpretability. The purpose of Study 1 was to provide normative data for the OD test of the BORB (version A-hard). The objectives of Study 2 were to establish the diagnostic validity of this task and predictive validity of the normative data in the case of the semantic variant of primary progressive aphasia (svPPA) and Alzheimer's disease (AD)...
April 21, 2017: Neuropsychology, Development, and Cognition. Section B, Aging, Neuropsychology and Cognition
https://www.readbyqxmd.com/read/28426643/incidence-and-trends-of-infections-with-pathogens-transmitted-commonly-through-food-and-the-effect-of-increasing-use-of-culture-independent-diagnostic-tests-on-surveillance-foodborne-diseases-active-surveillance-network-10-u-s-sites-2013-2016
#9
Ellyn P Marder, Paul R Cieslak, Alicia B Cronquist, John Dunn, Sarah Lathrop, Therese Rabatsky-Ehr, Patricia Ryan, Kirk Smith, Melissa Tobin-D'Angelo, Duc J Vugia, Shelley Zansky, Kristin G Holt, Beverly J Wolpert, Michael Lynch, Robert Tauxe, Aimee L Geissler
Foodborne diseases represent a substantial public health concern in the United States. CDC's Foodborne Diseases Active Surveillance Network (FoodNet) monitors cases reported from 10 U.S. sites* of laboratory-diagnosed infections caused by nine enteric pathogens commonly transmitted through food. This report describes preliminary surveillance data for 2016 on the nine pathogens and changes in incidences compared with 2013-2015. In 2016, FoodNet identified 24,029 infections, 5,512 hospitalizations, and 98 deaths caused by these pathogens...
April 21, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28424454/inference-of-the-infection-status-of-individuals-using-longitudinal-testing-data-from-cryptic-populations-towards-a-probabilistic-approach-to-diagnosis
#10
Svetlana N Buzdugan, Timothée Vergne, Vladimir Grosbois, Richard J Delahay, Julian A Drewe
Effective control of many diseases requires the accurate detection of infected individuals. Confidently ascertaining whether an individual is infected can be challenging when diagnostic tests are imperfect and when some individuals go for long periods of time without being observed or sampled. Here, we use a multi-event capture-recapture approach to model imperfect observations of true epidemiological states. We describe a method for interpreting potentially disparate results from individuals sampled multiple times over an extended period, using empirical data from a wild badger population naturally infected with Mycobacterium bovis as an example...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28423454/uk-neqas-survey-of-allergen-component-testing-across-the-united-kingdom-and-other-european-countries
#11
R Saleem, C Keymer, D Patel, W Egner, A W Rowbottom
The clinical utility of molecular diagnostic approaches in allergy investigation is being recognized increasingly to play a significant role in the management of allergic patients. Determining the sensitization pattern, which is best achieved through the use of component resolved diagnostics (CRD), allows effective risk stratification, appropriate treatment and patient selection for immunotherapy. In order to assess the diagnostic service provisions for in-vitro allergy testing across Europe, a survey was carried out via the total immunoglobulin (Ig)E and specific IgE external quality assurance schemes run by UK National External Quality Assessment Service (NEQAS) Immunology, Immunochemistry and Allergy...
April 19, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28422729/the-relevance-of-a-low-jak2v617f-allele-burden-in-clinical-practice-a-monocentric-study
#12
Margherita Perricone, Nicola Polverelli, Giovanni Martinelli, Lucia Catani, Emanuela Ottaviani, Elisa Zuffa, Eugenia Franchini, Arbana Dizdari, Dorian Forte, Elena Sabattini, Michele Cavo, Nicola Vianelli, Francesca Palandri
Since low JAK2V617F allele burden (AB) has been detected also in healthy subjects, its clinical interpretation may be challenging in patients with chronic myeloproliferative neoplasms (MPNs). We tested 1087 subjects for JAK2V617F mutation on suspicion of hematological malignancy. Only 497 (45.7%) patients were positive. Here we present clinical and laboratory parameters of a cohort of 35/497 patients with an AB ≤ 3%.Overall, 22/35 (62.9%) received a WHO-defined diagnosis of MPN and in 14/35 cases (40%) diagnosis was supported by bone marrow (BM) histology (''Histology-based'' diagnosis)...
March 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/28420603/the-coags-uncomplicated-app-fulfilling-educational-gaps-around-diagnosis-and-laboratory-testing-of-coagulation-disorders
#13
Craig Kessler, Ellinor I Peerschke, Meera B Chitlur, Roshni Kulkarni, Natalia Holot, David L Cooper
BACKGROUND: Patients with coagulation disorders may present to a variety of physician specialties; however, accurate and efficient diagnosis can be challenging for physicians not specialized in hematology, due to identified gaps in knowledge around appropriate laboratory assays and interpretation of test results. Coags Uncomplicated was developed to fill this unmet educational need by increasing practical knowledge of coagulation disorders among nonexpert physicians and other health care professionals (HCPs) in a point-of-care (POC) setting...
April 18, 2017: JMIR Medical Education
https://www.readbyqxmd.com/read/28419177/interpreting-patterns-of-low-scores-on-the-nih-toolbox-cognition-battery
#14
James A Holdnack, David S Tulsky, Brian L Brooks, Jerry Slotkin, Richard Gershon, Allen W Heinemann, Grant L Iverson
Introduction: The National Institutes of Health Toolbox for Assessment of Neurological and Behavioral Function Cognition Battery is comprised of seven cognitive tests, including two tests measuring crystallized cognitive ability (i.e., vocabulary and reading) and five tests measuring fluid cognitive functioning (i.e., working memory, memory, speed of processing, and executive functioning). This study presents comprehensive base rate tables for the frequency of low scores in adults and older adults from the normative sample...
April 17, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28416640/microsatellite-analysis-of-sporadic-and-hereditary-gynaecological-cancer-in-routine-diagnostics
#15
Laura Libera, Nora Sahnane, Ileana Wanda Carnevali, Laura Cimetti, Roberta Cerutti, Anna Maria Chiaravalli, Cristina Riva, Maria Grazia Tibiletti, Fausto Sessa, Daniela Furlan
Microsatellite instability (MSI) testing is tricky in gynaecological cancers (GC). Thus, we aimed to describe the instability patterns to improve MSI test interpretation in sporadic and hereditary GCs. Ninety-five cases, including uterine and ovarian cancers, with known genetic and immunohistochemical (IHC) features, were analysed for MSI by a mononucleotide repeats pentaplex (MRP). We identified 13 ambiguous cases that did not fully meet MSI criteria ('borderline' cases, B-MSI), which were mainly represented by MSH2/MSH6-deficient and Lynch syndrome cases...
April 17, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28414765/validation-of-full-field-optical-coherence-tomography-in-distinguishing-malignant-and-benign-tissue-in-resected-pancreatic-cancer-specimens
#16
Labrinus van Manen, Paulien L Stegehuis, Arantza Fariña-Sarasqueta, Lorraine M de Haan, Jeroen Eggermont, Bert A Bonsing, Hans Morreau, Boudewijn P F Lelieveldt, Cornelis J H van de Velde, Alexander L Vahrmeijer, Jouke Dijkstra, J Sven D Mieog
BACKGROUND: Pancreatic cancer is the fourth leading cause of cancer-related mortality in the United States. The minority of patients can undergo curative-intended surgical therapy due to progressive disease stage at time of diagnosis. Nonetheless, tumor involvement of surgical margins is seen in up to 70% of resections, being a strong negative prognostic factor. Real-time intraoperative imaging modalities may aid surgeons to obtain tumor-free resection margins. Full-field optical coherence tomography (FF-OCT) is a promising diagnostic tool using high-resolution white-light interference microscopy without tissue processing...
2017: PloS One
https://www.readbyqxmd.com/read/28407798/utilization-of-defined-microbial-communities-enables-effective-evaluation-of-meta-genomic-assemblies
#17
William W Greenwald, Niels Klitgord, Victor Seguritan, Shibu Yooseph, J Craig Venter, Chad Garner, Karen E Nelson, Weizhong Li
BACKGROUND: Metagenomics is the study of the microbial genomes isolated from communities found on our bodies or in our environment. By correctly determining the relation between human health and the human associated microbial communities, novel mechanisms of health and disease can be found, thus enabling the development of novel diagnostics and therapeutics. Due to the diversity of the microbial communities, strategies developed for aligning human genomes cannot be utilized, and genomes of the microbial species in the community must be assembled de novo...
April 13, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28407760/a-comparative-study-of-bone-biopsies-from-the-iliac-crest-the-tibial-bone-and-the-lumbar-spine
#18
Ruth G G Hiller, Margret Patecki, Claudia Neunaber, Janin Reifenrath, Jan T Kielstein, Heike Kielstein
BACKGROUND: Patients with an impaired renal function show a high incidence of bone and mineral disturbances. These 'chronic kidney disease - mineral and bone disorders' (CKD-MBD) range from high turnover osteoporosis to adynamic bone disease. Currently, the histomorphometric analysis of a bone biopsy taken from the iliac crest is viewed as the gold standard for CKD-MBD subtype differentiation. However, the clinical relevance of such a biopsy is questionable since iliac crest fractures are an extremely rare finding...
April 13, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28406553/detection-of-factor-xiii-deficiency-data-from-multicentre-exercises-amongst-uk-neqas-and-pro-rbdd-project-laboratories
#19
I Jennings, S Kitchen, M Menegatti, R Palla, I Walker, M Makris, F Peyvandi
INTRODUCTION: FXIII deficiency is a rare bleeding disorders, and specific FXIII assays are recommended to detect this deficiency. We investigated the performance and accuracy of FXIII investigations in two exercises, comparing centres enrolled in the PRO-RBDD project (prospective data collection on patients with fibrinogen and Factor XIII deficiencies), and UK NEQAS BC centres. METHODS: Samples from a FXIII deficient subject and a normal donor were sent to participating centres, to investigate for FXIII deficiency, and interpret their results...
April 13, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28403120/detection-of-pulmonary-embolism-during-cardiac-arrest-ultrasonographic-findings-should-be-interpreted-with-caution
#20
Rasmus Aagaard, Philip Caap, Nicolaj C Hansson, Morten T Bøtker, Asger Granfeldt, Bo Løfgren
OBJECTIVES: The aim of this study was to test the hypothesis that the right ventricle is more dilated during resuscitation from cardiac arrest caused by pulmonary embolism, compared with hypoxia and primary arrhythmia. DESIGN: Twenty-four pigs were anesthetized and cardiac arrest was induced using three different methods. Pigs were resuscitated after 7 minutes of untreated cardiac arrest. Ultrasonographic images were obtained and the right ventricular diameter was measured...
April 11, 2017: Critical Care Medicine
keyword
keyword
55346
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"