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https://www.readbyqxmd.com/read/28636280/getting-on-the-same-page-communication-patient-involvement-and-shared-understanding-of-decisions-in-oncology
#1
Aaron L Leppin, Marleen Kunneman, Julie Hathaway, Cara Fernandez, Victor M Montori, Jon C Tilburt
BACKGROUND: Patients and clinicians do not often agree on whether a decision has been made about cancer care. This could be explained by factors related to communication quality and/or the type of decision being made. METHODS: We used a self-developed coding scheme to code a random sample of 128 encounters in which patients and clinicians either agreed (n=64) or disagreed (n=64) that a cancer care decision was made and tested for associations between concordance and key communication behaviours...
June 21, 2017: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/28636072/using-chief-complaint-in-addition-to-diagnosis-codes-to-identify-falls-in-the-emergency-department
#2
Brian W Patterson, Maureen A Smith, Michael D Repplinger, Michael S Pulia, James E Svenson, Michael K Kim, Manish N Shah
OBJECTIVES: To compare incidence of falls in an emergency department (ED) cohort using a traditional International Classification of Diseases, Ninth Revision (ICD-9) code-based scheme and an expanded definition that included chief complaint information and to examine the clinical characteristics of visits "missed" in the ICD-9-based scheme. DESIGN: Retrospective electronic record review. SETTING: Academic medical center ED. PARTICIPANTS: Individuals aged 65 and older seen in the ED between January 1, 2013, and September 30, 2015...
June 21, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28635973/deconstructing-decisions-to-initiate-maintain-or-discontinue-adjuvant-endocrine-therapy-in-breast-cancer-survivors-a-mixed-methods-study
#3
Shirley M Bluethmann, Caitlin C Murphy, Jasmin A Tiro, Michelle A Mollica, Sally W Vernon, Leona Kay Bartholomew
PURPOSE/OBJECTIVES: Adjuvant endocrine therapy (AET) has been shown to improve survival in hormone receptor-positive breast cancer survivors, but as many as half do not complete recommended treatment. Management of medication-related side effects and engagement with providers are two potentially modifiable factors, but their associations with adherence are not well understood. The aims were to build on survey results to qualitatively explore survivors' experiences with prescribed AET to (a) describe appraisal and management of AET side effects and (b) deconstruct decisions to initiate, discontinue, or maintain AET...
May 1, 2017: Oncology Nursing Forum
https://www.readbyqxmd.com/read/28635967/social-behaviour-involving-drug-resistance-the-role-of-initial-density-initial-frequency-and-population-structure-in-shaping-the-effect-of-antibiotic-resistance-as-a-public-good
#4
I L Domingues, J A Gama, L M Carvalho, F Dionisio
Bacteria sometimes cooperate with co-inhabiting cells. Pathogenic bacteria, for example, often produce and excrete virulence factors, eventually benefitting both producer and non-producer cells. The role of social interactions involving antibiotic resistance, however, has been more elusive. Enzymes that inactivate β-lactam antibiotics such as ampicillin or penicillin (β-lactamases) are good candidates as public goods. Nonetheless, it has been claimed that bacteria harbouring plasmids of natural origin coding for β-lactamase almost do not protect sensitive bacteria...
June 21, 2017: Heredity
https://www.readbyqxmd.com/read/28635952/yunis-var%C3%A3-n-syndrome-caused-by-biallelic-vac14-mutations
#5
Matthew A Lines, Yoko Ito, Kristin D Kernohan, Wendy Mears, Julie Hurteau-Miller, Sunita Venkateswaran, Leanne Ward, Karine Khatchadourian, Jeff McClintock, Priya Bhola, Philippe M Campeau, Kym M Boycott, Jean Michaud, André Bp van Kuilenburg, Sacha Ferdinandusse, David A Dyment
Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinositol (3,5)-bisphosphate [PtdIns(3,5)P2] metabolism. FIG4 interacts with PIKfyve, a lipid kinase, via the adapter protein VAC14; all subunits of the resulting complex are essential for PtdIns(3,5)P2 synthesis in the endolysosomal membrane compartment...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635949/non-coding-variants-contribute-to-the-clinical-heterogeneity-of-ttr-amyloidosis
#6
Andrea Iorio, Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Luca Pradotto, Alessandro Mauro, Anna Mazzeo, Claudia Stancanelli, Federico Perfetto, Sabrina Frusconi, Filomena My, Dario Manfellotto, Maria Fuciarelli, Renato Polimanti
Coding mutations in TTR gene cause a rare hereditary form of systemic amyloidosis, which has a complex genotype-phenotype correlation. We investigated the role of non-coding variants in regulating TTR gene expression and consequently amyloidosis symptoms. We evaluated the genotype-phenotype correlation considering the clinical information of 129 Italian patients with TTR amyloidosis. Then, we conducted a re-sequencing of TTR gene to investigate how non-coding variants affect TTR expression and, consequently, phenotypic presentation in carriers of amyloidogenic mutations...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635624/effects-of-type-1-diabetes-risk-alleles-on-immune-cell-gene-expression
#7
REVIEW
Ramesh Ram, Grant Morahan
Genetic studies have identified 61 variants associated with the risk of developing Type 1 Diabetes (T1D). The functions of most of the non-HLA (Human Leukocyte Antigen) genetic variants remain unknown. We found that only 16 of these risk variants could potentially be linked to a protein-coding change. Therefore, we investigated whether these variants affected susceptibility by regulating changes in gene expression. To do so, we examined whole transcriptome profiles of 600 samples from the Type 1 Diabetes Genetics Consortium (T1DGC)...
June 21, 2017: Genes
https://www.readbyqxmd.com/read/28635437/assessment-of-diagnostic-information-and-quality-of-working-alliance-with-clients-diagnosed-with-personality-disorders-during-the-mental-health-intake
#8
Ora Nakash, Maayan Nagar
BACKGROUND: A primary purpose of diagnostic systems is to improve care, yet, little is known about how providers use it routine clinical care. AIMS: We investigated specific DSM-IV personality disorders (PDs) diagnostic information therapists collected during intake visits and the association between a therapist PD diagnosis and clients' and therapists' reports of the quality of working alliance during the intake. METHOD: A total of 122 intakes (n = 34, 27...
March 1, 2017: Journal of Mental Health
https://www.readbyqxmd.com/read/28635424/genome-wide-linkage-and-haplotype-sharing-analysis-implicates-the-mcdr3-locus-as-a-candidate-region-for-a-developmental-macular-disorder-in-association-with-digit-abnormalities
#9
Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel S Silva, Nikolas Pontikos, Virginie Puech, Michelle E McClements, David M Hunt, Veronica van Heyningen, Michel Michaelides, Andrew R Webster, Anthony T Moore, Bernard Puech
BACKGROUND: Developmental macular disorders are a heterogeneous group of rare retinal conditions that can cause significant visual impairment from childhood. Among these disorders, autosomal dominant North Carolina macular dystrophy (NCMD) has been mapped to 6q16 (MCDR1) with recent support for a non-coding disease mechanism of PRDM13. A second locus on 5p15-5p13 (MCDR3) has been implicated in a similar phenotype, but the disease-causing mechanism still remains unknown. METHODS: Two families affected by a dominant developmental macular disorder that closely resembles NCMD in association with digit abnormalities were included in the study...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635411/single-nucleotide-polymorphisms-in-the-human-rad21l-gene-may-be-a-genetic-risk-factor-for-japanese-patients-with-azoospermia-caused-by-meiotic-arrest-and-sertoli-cell-only-syndrome
#10
Gaku Minase, Toshinobu Miyamoto, Yasushi Miyagawa, Masashi Iijima, Hiroto Ueda, Yasuaki Saijo, Mikio Namiki, Kazuo Sengoku
Genetic mechanisms are implicated in some cases of male infertility. Recently, it was demonstrated that male mice lacking the gene for RAD21L exhibited azoospermia caused by meiotic arrest. Mouse RAD21L is a functionally relevant meiotic α-kleisin that is essential for male fertility. Therefore, we hypothesized that RAD21L mutations or polymorphisms may be associated with male infertility, especially azoospermia secondary to meiotic arrest. To determine if RAD21L defects are associated with azoospermia in groups of patients with meiotic arrest, we performed direct sequencing of the RAD21L coding regions in 38 Japanese patients with meiotic arrest and in 200 normal controls...
February 21, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28635401/inhibition-of-long-non-coding-rna-ror-reverses-resistance-to-tamoxifen-by-inducing-autophagy-in-breast-cancer
#11
Yuehua Li, Baohong Jiang, Hongbo Zhu, Xiaofei Qu, Liqin Zhao, Yeru Tan, Yiling Jiang, Mingchu Liao, Xiaoping Wu
This study explored the mechanism underlying long non-coding RNA ROR regulating autophagy on Tamoxifen resistance in breast cancer. Cancer tissues and adjacent normal tissues were collected from 74 breast cancer patients. Human breast cancer BT474 cells were assigned into blank, phosphate buffered saline, Tamoxifen, negative control + Tamoxifen, siROR + Tamoxifen, 3-methyladenine + Tamoxifen, and siROR + 3-methyladenine + TA groups. The expression of long non-coding RNA ROR and expressions of multi-drug resistance-associated P-glycoprotein and glutathione S-transferase-π messenger RNA were detected using quantitative real-time polymerase chain reaction...
June 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28635399/overexpression-of-long-non-coding-rna-meg3-suppresses-breast-cancer-cell-proliferation-invasion-and-angiogenesis-through-akt-pathway
#12
Chen-Yu Zhang, Ming-Sheng Yu, Xiang Li, Zhe Zhang, Ce-Ran Han, Bo Yan
Long non-coding RNA MEG3 has been identified as a tumor suppressor which plays important roles in tumorigenesis; however, its potential role in breast cancer has not been fully examined. Here, we showed that MEG3 was downregulated in breast cancer tissues and cell lines. Overexpression of MEG3 inhibited breast cancer cell proliferation and invasion, suggesting that MEG3 played an important role in breast cancer progression and metastasis. Moreover, MEG3 upregulation caused marked inhibition of angiogenesis-related factor expression...
June 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28635339/methods-for-estimating-costs-in-patients-with-hyperlipidemia-experiencing-their-first-cardiovascular-event-in-the-united-kingdom
#13
Mark D Danese, Michelle Gleeson, Robert I Griffiths, David Catterick, Lucie Kutikova
AIMS: Methods for integrating external costs into clinical databases are not well-characterized. The purpose of this research was to describe and implement methods for estimating the cost of hospitalizations, prescriptions, and general practitioner and specialist visits used to manage hyperlipidemia patients experiencing cardiovascular (CV) events in the United Kingdom (UK). METHODS: This study was a retrospective cohort study using the Clinical Practice Research Datalink and Hospital Episode Statistics data...
June 21, 2017: Journal of Medical Economics
https://www.readbyqxmd.com/read/28634805/comparative-prevalence-of-escherichia-coli-carrying-virulence-genes-and-class-1-and-2-integrons-in-sub-tropical-and-cool-temperate-freshwater
#14
Jatinder P S Sidhu, Paul Jagals, Amy Smith, Simon Toze
Aquatic environments are now recognized secondary habitat of potentially pathogenic Escherichia coli. In this study, PCR-based analyses were used to determine the phylogenetic composition and frequency of occurrence of eight clinically significant virulence genes (VGs) in E. coli isolates from sub-tropical Brisbane and cool temperate Tasmania freshwater in Australia. In Brisbane, non-commensal E. coli isolates belonging to the B2 and D phylogenetic group were dominant (72%). A significantly higher number (P < 0...
June 21, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28634776/evidence-supporting-the-internal-validity-of-the-proposed-nd-pae-disorder
#15
Julie A Kable, Claire D Coles
The internal validity of the proposed Neurobehavioral Disorder Associated with Prenatal Alcohol Exposure (ND-PAE) was evaluated in children diagnosed with either Fetal Alcohol Syndrome (FAS) or partial FAS who were 3-10 years of age and had enrolled in a math intervention study. Symptoms were coded as present or absent using assessments conducted in the study, including standardized measures of neurocognitive and behavioral functioning, parent interview, and direct observations of the child. The number of endorsed ND-PAE symptoms was not related to environmental factors but was moderately related to the child's age...
June 20, 2017: Child Psychiatry and Human Development
https://www.readbyqxmd.com/read/28634715/regulatory-element-based-prediction-identifies-new-susceptibility-regulatory-variants-for-osteoporosis
#16
Shi Yao, Yan Guo, Shan-Shan Dong, Ruo-Han Hao, Xiao-Feng Chen, Yi-Xiao Chen, Jia-Bin Chen, Qing Tian, Hong-Wen Deng, Tie-Lin Yang
Despite genome-wide association studies (GWASs) have identified many susceptibility genes for osteoporosis, it still leaves a large part of missing heritability to be discovered. Integrating regulatory information and GWASs could offer new insights into the biological link between the susceptibility SNPs and osteoporosis. We generated five machine learning classifiers with osteoporosis-associated variants and regulatory features data. We gained the optimal classifier and predicted genome-wide SNPs to discover susceptibility regulatory variants...
June 20, 2017: Human Genetics
https://www.readbyqxmd.com/read/28634634/pain-and-fracture-related-limitations-persist-6%C3%A2-months-after-a-fragility-fracture
#17
Joanna E M Sale, Lucy Frankel, Stephen Thielke, Larry Funnell
Our objective was to examine the experience of pain after a fracture beyond the conventional healing duration of 6 months. We conducted a phenomenological study in participants who were deemed high risk for future fracture and recruited through an urban fracture clinic in Toronto, Canada. In-depth interviews were conducted with questions addressing the experience of pain, the status of recovery from the fracture, ways in which the fracture affected one's daily activities, and interactions with health care providers...
June 20, 2017: Rheumatology International
https://www.readbyqxmd.com/read/28634583/circular-rnas-biogenesis-function-and-role-in-human-diseases
#18
REVIEW
John Greene, Anne-Marie Baird, Lauren Brady, Marvin Lim, Steven G Gray, Raymond McDermott, Stephen P Finn
Circular RNAs (circRNAs) are currently classed as non-coding RNA (ncRNA) that, unlike linear RNAs, form covalently closed continuous loops and act as gene regulators in mammals. They were originally thought to represent errors in splicing and considered to be of low abundance, however, there is now an increased appreciation of their important function in gene regulation. circRNAs are differentially generated by backsplicing of exons or from lariat introns. Unlike linear RNA, the 3' and 5' ends normally present in an RNA molecule have been joined together by covalent bonds leading to circularization...
2017: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28634503/monitoring-the-diagnostic-process-on-an-inpatient-neurology-service
#19
Amar Dhand, Robert Bucelli, Arun Varadhachary, Michael Tsiaklides, Gabriela de Bruin, Gurpreet Dhaliwal
The Institute of Medicine report Improving Diagnosis in Health Care called for tools to monitor physicians' diagnostic process. We addressed this need by developing a tool for clinicians to record and analyze their diagnostic process. The tool was a secure web application in which clinicians used a structured grading system to assess the relative impact of clinical, laboratory, and neuroimaging data for every new diagnosis. Four neurohospitalists used the tool for 6.5 months on a general neurology ward service at a single tertiary-level teaching hospital...
July 2017: Neurohospitalist
https://www.readbyqxmd.com/read/28634438/computational-models-of-anterior-cingulate-cortex-at-the-crossroads-between-prediction-and-effort
#20
Eliana Vassena, Clay B Holroyd, William H Alexander
In the last two decades the anterior cingulate cortex (ACC) has become one of the most investigated areas of the brain. Extensive neuroimaging evidence suggests countless functions for this region, ranging from conflict and error coding, to social cognition, pain and effortful control. In response to this burgeoning amount of data, a proliferation of computational models has tried to characterize the neurocognitive architecture of ACC. Early seminal models provided a computational explanation for a relatively circumscribed set of empirical findings, mainly accounting for EEG and fMRI evidence...
2017: Frontiers in Neuroscience
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