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https://www.readbyqxmd.com/read/28431395/correlation-of-genomic-alterations-assessed-by-next-generation-sequencing-ngs-of-tumor-tissue-dna-and-circulating-tumor-dna-ctdna-in-metastatic-renal-cell-carcinoma-mrcc-potential-clinical-implications
#1
Andrew W Hahn, David M Gill, Benjamin Maughan, Archana Agarwal, Lubina Arjyal, Sumati Gupta, Jessica Streeter, Erin Bailey, Sumanta K Pal, Neeraj Agarwal
INTRODUCTION: Tumor tissue and circulating tumor DNA (ctDNA) next-generation sequencing (NGS) testing are frequently performed to detect genomic alterations (GAs) to help guide treatment in metastatic renal cell carcinoma (mRCC), especially after progression on standard systemic therapy. Our objective was to assess if GAs detected by ctDNA NGS are different from those detected by tumor tissue NGS, specifically in patients with mRCC, and if these platforms are interchangeable or complimentary...
April 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28430889/accuracy-of-diagnostic-tests-for-schistosoma-mansoni-infection-in-asymptomatic-eritrean-refugees-serology-and-poc-cca-against-stool-microscopy
#2
Afona Chernet, Kerstin Kling, Véronique Sydow, Esther Kuenzli, Christoph Hatz, Jürg Utzinger, Lisette van Lieshout, Hanspeter Marti, Niklaus D Labhardt, Andreas Neumayr
Background: The unprecedented increase in number of African refugees arriving in Europe is confronting clinicians and general practitioners with the question of whether or not and how to screen migrants from endemic regions for Schistosoma mansoni infection. Methods: We assessed the accuracy of three different diagnostic tests for S.mansoni infection (stool microscopy [samples prepared by sedimentation technique], serology, and point-of-care circulating cathodic antigen [POC-CCA] urine cassette test) in 107 newly arrived asymptomatic Eritrean refugees in Switzerland...
April 19, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28429164/detection-of-gastrointestinal-pathogens-in-oncology-patients-by-highly-multiplexed-molecular-panels
#3
C C Otto, L H Chen, T He, Y-W Tang, N E Babady
We compared the frequency of gastrointestinal (GI) pathogen detection in an oncology patient population by two multiplexed molecular assays, the Luminex xTAG® Gastrointestinal Pathogen Panel (GPP, which identifies 14 GI pathogens) and the BioFire Gastrointestinal Panel (BFGP, which identifies 22 GI pathogens). We additionally reviewed the clinical characteristics of patients tested with both panels. A total of 200 prospectively collected and 81 archived stool samples were tested by both panels. In the prospective cohort, the GPP and BFGP identified a pathogen in 33...
April 20, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28427885/prognostic-scoring-system-to-risk-stratify-parathyroid-carcinoma
#4
Angelica M Silva-Figueroa, Kenneth R Hess, Michelle D Williams, Callisia N Clarke, Ioannis Christakis, Paul H Graham, Elizabeth G Grubbs, Jeffrey E Lee, Naifa L Busaidy, Nancy D Perrier
BACKGROUND: Parathyroid carcinoma is a rare endocrine malignancy that lacks an established system for risk categorization. This study evaluated a prognostic scoring system for recurrence-free survival (RFS) of patients with parathyroid carcinoma. STUDY DESIGN: Patients diagnosed and confirmed to have parathyroid carcinoma and who were treated between 1980 and 2016 at The University of Texas MD Anderson Cancer Center were studied retrospectively. Univariate and multivariate Cox proportional hazards regression analyses of RFS were conducted...
March 15, 2017: Journal of the American College of Surgeons
https://www.readbyqxmd.com/read/28427400/monitoring-mandibular-movements-to-detect-cheyne-stokes-breathing
#5
Jean-Benoît Martinot, Jean-Christian Borel, Nhat-Nam Le-Dong, Hervé Jean-Pierre Guénard, Valerie Cuthbert, Philip E Silkoff, David Gozal, Jean-Louis Pepin
BACKGROUND: The patterns of mandibular movements (MM) during sleep can be used to identify increased respiratory effort periodic large-amplitude MM (LPM), and cortical arousals associated with "sharp" large-amplitude MM (SPM). We hypothesized that Cheyne Stokes breathing (CSB) may be identified by periodic abnormal MM patterns. The present study aims to evaluate prospectively the concordance between CSB detected by periodic MM and polysomnography (PSG) as gold-standard. The present study aims to evaluate prospectively the concordance between CSB detected by periodic MM and polysomnography (PSG) as gold-standard...
April 20, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28424234/braf-v600-mutation-detection-in-melanoma-a-comparison-of-two-laboratory-testing-methods
#6
Odharnaith O'Brien, Tomas Lyons, Sandra Murphy, Linda Feeley, Derek Power, Cynthia C B B Heffron
AIMS: The assessment of B-raf proto-oncogene, serine/threonine kinase (BRAF) gene status is now standard practice in patients diagnosed with metastatic melanoma with its presence predicting a clinical response to treatment with BRAF inhibitors. The gold standard in determining BRAF status is currently by DNA-based methods. More recently, a BRAF V600E antibody has been developed. We aim to investigate whether immunohistochemical detection of BRAF mutation is a suitable alternative to molecular testing by polymerase chain reaction (PCR)...
April 19, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28422802/validity-and-repeatability-of-a-novel-dynamic-visual-acuity-system
#7
Mariko Hirano, Natalie Hutchings, Trefford Simpson, Kristine Dalton
PURPOSE: In many sports, athletes rely on visual information from the environment to perform. Some literature suggests athletes have superior visual abilities to non-athletes, particularly on tasks representative of the visual demands of their sport, such as dynamic acuity, eye movement accuracy and speed, and peripheral vision. Other literature suggests there is no difference between athletes and non-athletes, at least when standard clinical assessments are employed. A limitation of the literature is that almost none of the research has been conducted with standardized, validated tools...
May 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/28422393/accuracy-and-response-time-of-dual-biomarker-model-of-insulin-like-growth-factor-binding-protein-1-alpha-fetoprotein-amnioquick-duo-in-comparison-to-placental-alpha-microglobulin-1-test-in-diagnosis-of-premature-rupture-of-membranes
#8
George Uchenna Eleje, Euzebus Chinonye Ezugwu, Ahizechukwu Chigoziem Eke, Joseph Ifeanyichukwu Ikechebelu, Chukwuemeka Okwudili Ezeama, Ifeanyichukwu Uzoma Ezebialu, Nnabuike Okechukwu Ojiegbe, Chukwudi Celestine Obiora, Charles Ikechukwu Okafor, Gerald Okanandu Udigwe, Betrand Obi Nwosu, Frank O Ezugwu
AIM: The aim of this study was to determine accuracy and response time of duo of insulin-like growth factor binding protein-1 (IGFBP-1)/alpha-fetoprotein (Amnioquick duo+) versus placental alpha-microglobulin-1 (PAMG-1) in diagnosing premature rupture of membranes (PROM). METHODS: A multicenter prospective study was conducted among women with features suggestive of PROM between 24 and 42 gestational weeks (GW). PROM was confirmed post-delivery based on presence of any two of these criteria: delivery within 48 h to 7 days, chorioamnionitis, membranes overtly ruptured at delivery, and adverse perinatal outcomes strongly correlated with prolonged PROM...
April 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28422318/computational-analysis-of-breast-cancer-gwas-loci-identifies-the-putative-deleterious-effect-of-stxbp4-and-znf404-gene-variants
#9
Tariq Ahmad Masoodi, Babajan Banaganapalli, Venkatesh Vaidyanathan, Venkateswar Rao Talluri, Noor Ahmad Shaik
The genome-wide association studies (GWAS) have enabled us in identifying different breast cancer susceptibility loci. However, majority of these are non-coding variants with no annotated biological function. We investigated such 78 noncoding genome wide associated SNPs of breast cancer and further expanded the list to 2162 variants with strong linkage-disequilibrium (LD, r2 ≥0.8). Using multiple publically available algorithms such as CADD, GWAVA and FATHAMM, we classified all these variants in to deleterious, damaging or benign categories...
April 19, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28421797/malnutrition-in-hospitalized-patients-results-from-la-rioja
#10
Ángela Martín Palmero, Andra Serrano Pérez, Mª José Chinchetru Ranedo, Alejandro Cámara Balda, Mª Ángeles Martínez de Salinas Santamarí, Gonzalo Villar García, Mª Del Mar Marín Lizárraga
BACKGROUND: There is a high malnutrition prevalence in hospitalized patients. AIM: To determine the malnutrition prevalence in hospitalized patients of La Rioja Community (Spain) when evaluated with different screening/ evaluation tools and its relationship with hospital stay and mortality. METHODS: Cross sectional observational study of hospitalized adult patients (age > 18 years old) from medical and surgical departments that underwent within 72 h of their admission a nutritional screening with Malnutrition Universal Screening Tool (MUST), Nutritional Risk Screening (NRS) 2002, Controlling Nutritional Status (CONUT) y Subjective Global Assessment (SGA)...
March 30, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/28421353/phosphatidylethanol-peth-as-a-biomarker-of-alcohol-consumption-in-hiv-infected-young-russian-women-comparison-to-self-report-assessments-of-alcohol-use
#11
Andrew K Littlefield, Jennifer L Brown, Ralph J DiClemente, Polina Safonova, Jessica M Sales, Eve S Rose, Nikolay Belyakov, Vadim V Rassokhin
Alcohol use is particularly deleterious for HIV-infected individuals and thus accurate assessment of alcohol consumption is crucial in this population. Phosphatidylethanol (PEth) provides an objective assessment of drinking and can be compared to self-reported alcohol assessments to detect underreporting. The purpose of this study was to identify underreporting and its potential predictors in an HIV-infected sample of young Russian women. The current study examined the concordance between a quantitative measure of PEth and self-reported recent alcohol consumption in a prospective sample of HIV-infected young women (N = 204) receiving medical care in Saint Petersburg, Russia...
April 18, 2017: AIDS and Behavior
https://www.readbyqxmd.com/read/28421332/the-statin-associated-muscle-symptom-clinical-index-sams-ci-revision-for-clinical-use-content-validation-and-inter-rater-reliability
#12
Robert S Rosenson, Kate Miller, Martha Bayliss, Robert J Sanchez, Marie T Baccara-Dinet, Daniela Chibedi-De-Roche, Beth Taylor, Irfan Khan, Garen Manvelian, Michelle White, Terry A Jacobson
PURPOSE: The Statin-Associated Muscle Symptom Clinical Index (SAMS-CI) is a method for assessing the likelihood that a patient's muscle symptoms (e.g., myalgia or myopathy) were caused or worsened by statin use. The objectives of this study were to prepare the SAMS-CI for clinical use, estimate its inter-rater reliability, and collect feedback from physicians on its practical application. METHODS: For content validity, we conducted structured in-depth interviews with its original authors as well as with a panel of independent physicians...
April 18, 2017: Cardiovascular Drugs and Therapy
https://www.readbyqxmd.com/read/28419195/plasma-ctdna-ras-mutation-analysis-for-the-diagnosis-and-treatment-monitoring-of-metastatic-colorectal-cancer-patients
#13
J Vidal, L Muinelo, A Dalmases, F Jones, D Edelstein, M Iglesias, M Orrillo, A Abalo, C Rodríguez, E Brozos, Y Vidal, S Candamio, F Vázquez, J Ruiz, M Guix, L Visa, V Sikri, J Albanell, B Bellosillo, R López, C Montagut
Background: RAS assessement is mandatory for therapy decision in metastatic colorectal cancer (mCRC) patients. This determination is based on tumor tissue, however genotyping of circulating tumor (ct)DNA offers clear advantages as a minimally invasive method that represents tumor heterogeneity. Our study aims to evaluate the use of ctDNA as an alternative determining baseline RAS status and subsequent monitoring of RAS mutations during therapy as a component of routine clinical practice...
April 13, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/28416640/microsatellite-analysis-of-sporadic-and-hereditary-gynaecological-cancer-in-routine-diagnostics
#14
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/28413105/investigation-of-omnigene%C3%A2-sputum-performance-in-delayed-tuberculosis-testing-by-smear-culture-and-xpert-mycobacterium-tuberculosis-rif-assays-in-uganda
#15
Cassandra D Kelly-Cirino, P S Curry
OMNIgene·SPUTUM (OM-S) is a sample transport reagent designed to work with all tuberculosis diagnostics while eliminating the need for cold chain. OM-S-treated sputum samples were assayed in several tests after multiday holds. Raw sputa from 100 patients underwent direct smear microscopy, were manually split and assigned to the OM-S group [OM-S added at collection (no other processing required) and tested after 0- to 5-day holds at room temperature] or standard-of-care (SOC) group (NaOH/N-acetyl l-cysteine decontamination, all tested on day of collection)...
April 13, 2017: Journal of Epidemiology and Global Health
https://www.readbyqxmd.com/read/28410425/the-cobas%C3%A2-hcv-gt-is-a-new-tool-that-accurately-identifies-hepatitis-c-virus-genotypes-for-clinical-practice
#16
J A Fernández-Caballero, M Alvarez, N Chueca, A B Pérez, F García
OBJECTIVE: We aimed to evaluate the correct assignment of HCV genotype/subtypes 1a and 1b by cobas® HCV genotyping (GT) assay (Roche Molecular Diagnostics) compared with nonstructural protein 5B (NS5B) sequencing. PATIENTS AND METHODS: Clinical samples from 153 patients submitted for HCV genotyping were studied. After genotyping with the cobas® HCV GT, sequencing of a 387 bp fragment in the NS5B gene and phylogenetic analysis was employed to compare genotyping results...
2017: PloS One
https://www.readbyqxmd.com/read/28410390/accessory-gene-regulator-agr-functionality-in-staphylococcus-aureus-derived-from-lower-respiratory-tract-infections
#17
Meissiner Gomes-Fernandes, Maisem Laabei, Natalia Pagan, Jessica Hidalgo, Sònia Molinos, Raquel Villar Hernandez, Dídac Domínguez-Villanueva, A Toby A Jenkins, Alicia Lacoma, Cristina Prat
OBJECTIVE: Characterization of Staphylococcus aureus clinical isolates derived from lower respiratory tract infections (LRTIs), and correlation between the functionality of the accessory gene regulator (Agr) and genotypic and phenotypic characteristics, clinical variables and clinical outcome. METHODS: S aureus isolates derived from LRTIs and control groups (nasal carriage and bacteraemia) were genotyped using StaphyType DNA microarray. Agr activity was evaluated using the CAMP synergistic haemolysis assay and the Vesicle Lysis Test (VLT)...
2017: PloS One
https://www.readbyqxmd.com/read/28408614/clinical-variant-classification-a-comparison-of-public-databases-and-a-commercial-testing-laboratory
#18
William Gradishar, KariAnne Johnson, Krystal Brown, Erin Mundt, Susan Manley
BACKGROUND: There is a growing move to consult public databases following receipt of a genetic test result from a clinical laboratory; however, the well-documented limitations of these databases call into question how often clinicians will encounter discordant variant classifications that may introduce uncertainty into patient management. Here, we evaluate discordance in BRCA1 and BRCA2 variant classifications between a single commercial testing laboratory and a public database commonly consulted in clinical practice...
April 13, 2017: Oncologist
https://www.readbyqxmd.com/read/28407410/variable-clinical-course-of-identical-twin-neonates-with-alstr%C3%A3-m-syndrome-presenting-coincidentally-with-dilated-cardiomyopathy
#19
Seth A Hollander, Norah Alsaleh, Maura Ruzhnikov, Kristen Jensen, David N Rosenthal, David A Stevenson, Melanie Manning
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28407146/high-rates-of-latent-tb-infection-in-contacts-and-the-wider-community-in-south-india
#20
Padmanesan Narasimhan, Chandini Raina MacIntyre, Dilip Mathai, James Wood
Background: We aimed to compare TB transmission rates between case and community households in Vellore, South India. Methods: 359 household contacts (HHC) and 363 community contacts (CC) were assessed with tuberculin skin test (TST) and QuantiFERON TB Gold In-Tube test (QFT) between August 2010 and September 2011. Concordance test and multivariate risk factor assessment were conducted using logistic regression adjusted for clustering. Results: Latent TB infection (LTBI) positivity was similar between the two groups using both tests, with only moderate concordance observed between QFT and TST...
April 12, 2017: Transactions of the Royal Society of Tropical Medicine and Hygiene
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