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https://www.readbyqxmd.com/read/27909454/linkage-and-association-analyses-of-schizophrenia-with-genetic-variations-on-chromosome-22q11-in-koreans
#1
Se Chang Yoon, Yong Lee Jang, Jong-Won Kim, Eun-Young Cho, Dong Yeon Park, Kyung Sue Hong, Yu Sang Lee
OBJECTIVE: Chromosome 22q11 has been implicated as a susceptibility locus of schizophrenia. It also contains various candidate genes for which evidence of association with schizophrenia has been reported. To determine whether genetic variations in chromosome 22q11 are associated with schizophrenia in Koreans, we performed a linkage analysis and case-control association study. METHODS: Three microsatellite markers within a region of 4.35 Mb on 22q11 were genotyped for 47 multiplex schizophrenia families, and a non-parametric linkage analysis was applied...
November 2016: Psychiatry Investigation
https://www.readbyqxmd.com/read/27903903/novel-roles-of-hp1a-and-mcm10-in-dna-replication-genome-maintenance-and-photoreceptor-cell-differentiation
#2
Nicole Vo, Dang Ngoc Anh Suong, Natsuki Yoshino, Hideki Yoshida, Sue Cotterill, Masamitsu Yamaguchi
Both Mcm10 and HP1a are known to be required for DNA replication. However, underlying mechanism is not clarified yet especially for HP1. Knockdown of both HP1a and Mcm10 genes inhibited the progression of S phase in Drosophila eye imaginal discs. Proximity Ligation Assay (PLA) demonstrated that HP1a is in close proximity to DNA replication proteins including Mcm10, RFC140 and DNA polymerase ϵ 255 kDa subunit in S-phase. This was further confirmed by co-immunoprecipitation assay. The PLA signals between Mcm10 and HP1a are specifically observed in the mitotic cycling cells, but not in the endocycling cells...
November 29, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27902153/nurse-led-medicines-monitoring-a-study-examining-the-effects-of-the-west-wales-adverse-drug-reaction-profile
#3
Richard Jones, Christopher Moyle, Sue Jordan
Aim The physical health of people with mental health conditions is often suboptimal, and in many cases this may be related to their prescription medicines. One issue is that patients are monitored inconsistently for adverse drug reactions (ADRs). The aim of this study was to explore whether the nurse-led West Wales Adverse Drug Reaction (WWADR) Profile for Mental Health Medicines could improve recognition and management of ADRs in a crisis resolution home treatment service. Method The WWADR Profile was implemented in addition to usual care, in a one-group 'before and after' comparison study (n=20)...
November 30, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27897381/pathologic-fracture-in-childhood-and-adolescent-osteosarcoma-a-single-institution-experience
#4
Lindsay Haynes, Sue C Kaste, Kirsten K Ness, Jianrong Wu, Lucia Ortega-Laureano, Michael Bishop, Michael Neel, Bhaskar Rao, Israel Fernandez-Pineda
PURPOSE: Pathologic fractures occur in 5-10% of pediatric osteosarcoma (OS) cases and have historically been considered a contraindication to limb salvage. Our purpose was to describe the radiographic features of pathologic fracture and examine its impact on local recurrence rates, functional outcomes, and overall survival. METHODS: We retrospectively analyzed patients at our institution from 1990 to 2015 with pathologic fracture at diagnosis or during neoadjuvant chemotherapy...
November 5, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27874265/incidental-brain-mri-findings-in-an-autism-twin-study
#5
Julio C Monterrey, Jennifer Philips, Sue Cleveland, Serena Tanaka, Patrick Barnes, Joachim F Hallmayer, Alan L Reiss, Laura C Lazzeroni, Antonio Y Hardan
Brain magnetic resonance imaging (MRI) studies suggest the prevalence of asymptomatic "incidental" findings (IF) in autism spectrum disorder (ASD) is similar to that of neurotypically developing (NT) controls. However, given the causes of IF may include both genetic and environmental factors, a twin study would facilitate comparing brain IF between ASD and NT subjects. MRI scans were examined to assess the prevalence of brain IF in twin "case pairs" (at least one twin with diagnosis of ASD) and twin "control pairs" (NT)...
November 22, 2016: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/27862714/de-novo-inflammatory-bowel-disease-after-pediatric-kidney-or-liver-transplant
#6
Melissa A Fernandes, Hillary J Braun, Kim Evason, Sue Rhee, Emily R Perito
A subset of children who receive a liver and/or kidney transplant develop de novo inflammatory bowel disease-like chronic intestinal inflammation, not explained by infection or medications, following transplant. We have conducted a single-center, retrospective case series describing the unique clinical and histologic features of this IBD-like chronic intestinal inflammation following solid organ transplant. At our center, nine of 327 kidney or liver recipients developed de novo IBD following transplant (six liver, two kidney, one liver-kidney)...
November 11, 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27861701/preparing-family-caregivers-to-recognize-delirium-symptoms-in-older-adults-after-elective-hip-or-knee-arthroplasty
#7
Margaret J Bull, Lesley Boaz, Mehdi Maadooliat, Mary E Hagle, Lynn Gettrust, Maureen T Greene, Sue Baird Holmes, Jane S Saczynski
OBJECTIVES: To test the feasibility of a telephone-based intervention that prepares family caregivers to recognize delirium symptoms and how to communicate their observations to healthcare providers. DESIGN: Mixed-method, pre-post quasi-experimental design. SETTING: A Midwest Veterans Affairs Medical Center and a nonprofit health system. PARTICIPANTS: Forty-one family caregiver-older adult dyads provided consent; 34 completed the intervention...
November 11, 2016: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/27836010/inheritance-of-deleterious-mutations-at-both-brca1-and-brca2-in-an-international-sample-of-32-295-women
#8
Timothy R Rebbeck, Tara M Friebel, Nandita Mitra, Fei Wan, Stephanie Chen, Irene L Andrulis, Paraskevi Apostolou, Norbert Arnold, Banu K Arun, Daniel Barrowdale, Javier Benitez, Raanan Berger, Pascaline Berthet, Ake Borg, Saundra S Buys, Trinidad Caldes, Jonathan Carter, Jocelyne Chiquette, Kathleen B M Claes, Fergus J Couch, Cezary Cybulski, Mary B Daly, Miguel de la Hoya, Orland Diez, Susan M Domchek, Katherine L Nathanson, Katarzyna Durda, Steve Ellis, D Gareth Evans, Lenka Foretova, Eitan Friedman, Debra Frost, Patricia A Ganz, Judy Garber, Gord Glendon, Andrew K Godwin, Mark H Greene, Jacek Gronwald, Eric Hahnen, Emily Hallberg, Ute Hamann, Thomas V O Hansen, Evgeny N Imyanitov, Claudine Isaacs, Anna Jakubowska, Ramunas Janavicius, Katarzyna Jaworska-Bieniek, Esther M John, Beth Y Karlan, Bella Kaufman, KConFab Investigators, Ava Kwong, Yael Laitman, Christine Lasset, Conxi Lazaro, Jenny Lester, Niklas Loman, Jan Lubinski, Siranoush Manoukian, Gillian Mitchell, Marco Montagna, Susan L Neuhausen, Heli Nevanlinna, Dieter Niederacher, Robert L Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I Olopade, Sue Kyung Park, Marion Piedmonte, Paolo Radice, Christine Rappaport-Fuerhauser, Matti A Rookus, Caroline Seynaeve, Jacques Simard, Christian F Singer, Penny Soucy, Melissa Southey, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Csilla I Szabo, Mariella Tancredi, Manuel R Teixeira, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Amanda Ewart Toland, Aleksandra Toloczko-Grabarek, Nadine Tung, Elizabeth J van Rensburg, Danylo Villano, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N Weitzel, Jamal Zidan, Kristin K Zorn, Lesley McGuffog, Douglas Easton, Georgia Chenevix-Trench, Antonis C Antoniou, Susan J Ramus
BACKGROUND: Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. METHODS: From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mutation found in the TH "case"...
November 11, 2016: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/27813058/resolving-malpractice-claims-after-tort-reform-experience-in-a-self-insured-texas-public-academic-health-system
#9
William M Sage, Molly Colvard Harding, Eric J Thomas
OBJECTIVE: To describe the litigation experience in a state with strict tort reform of a large public university health system that has committed to transparency with patients and families in resolving medical errors. DATA SOURCES/STUDY SETTING: Secondary data collected from The University of Texas System, which self-insures approximately 6,000 physicians at six health campuses across the state. We obtained internal case management data for all medical malpractice claims closed during 1 year before and 6 recent years following the enactment of state tort reform legislation...
November 4, 2016: Health Services Research
https://www.readbyqxmd.com/read/27811861/a-survey-of-current-practices-for-genomic-sequencing-test-interpretation-and-reporting-processes-in-us-laboratories
#10
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, Sherri J Bale, Jonathan S Berg, David Bick, Kevin M Bowling, Elizabeth C Chao, Wendy K Chung, Laura K Conlin, Gregory M Cooper, Soma Das, Joshua L Deignan, Michael O Dorschner, James P Evans, Arezou A Ghazani, Katrina A Goddard, Michele Gornick, Kelly D Farwell Hagman, Tina Hambuch, Madhuri Hegde, Lucia A Hindorff, Ingrid A Holm, Gail P Jarvik, Amy Knight Johnson, Lindsey Mighion, Massimo Morra, Sharon E Plon, Sumit Punj, C Sue Richards, Avni Santani, Brian H Shirts, Nancy B Spinner, Sha Tang, Karen E Weck, Susan M Wolf, Yaping Yang, Heidi L Rehm
PURPOSE: While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation, and reporting of clinically significant variants. This study aimed to examine the workflow and reporting procedures among US laboratories to highlight shared practices and identify areas in need of standardization. METHODS: Surveys and follow-up interviews were conducted with laboratories offering exome and/or genome sequencing to support a research program or for routine clinical services...
November 3, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27796716/association-of-breast-cancer-risk-in-brca1-and-brca2-mutation-carriers-with-genetic-variants-showing-differential-allelic-expression-identification-of-a-modifier-of-breast-cancer-risk-at-locus-11q22-3
#11
Yosr Hamdi, Penny Soucy, Karoline B Kuchenbaeker, Tomi Pastinen, Arnaud Droit, Audrey Lemaçon, Julian Adlard, Kristiina Aittomäki, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Banu K Arun, Jacopo Azzollini, Anita Bane, Laure Barjhoux, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, Marinus J Blok, Kristie Bobolis, Valérie Bonadona, Bernardo Bonanni, Angela R Bradbury, Carole Brewer, Bruno Buecher, Saundra S Buys, Maria A Caligo, Jocelyne Chiquette, Wendy K Chung, Kathleen B M Claes, Mary B Daly, Francesca Damiola, Rosemarie Davidson, Miguel De la Hoya, Kim De Leeneer, Orland Diez, Yuan Chun Ding, Riccardo Dolcetti, Susan M Domchek, Cecilia M Dorfling, Diana Eccles, Ros Eeles, Zakaria Einbeigi, Bent Ejlertsen, Christoph Engel, D Gareth Evans, Lidia Feliubadalo, Lenka Foretova, Florentia Fostira, William D Foulkes, George Fountzilas, Eitan Friedman, Debra Frost, Pamela Ganschow, Patricia A Ganz, Judy Garber, Simon A Gayther, Anne-Marie Gerdes, Gord Glendon, Andrew K Godwin, David E Goldgar, Mark H Greene, Jacek Gronwald, Eric Hahnen, Ute Hamann, Thomas V O Hansen, Steven Hart, John L Hays, Frans B L Hogervorst, Peter J Hulick, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M John, Vijai Joseph, Walter Just, Katarzyna Kaczmarek, Beth Y Karlan, Carolien M Kets, Judy Kirk, Mieke Kriege, Yael Laitman, Maïté Laurent, Conxi Lazaro, Goska Leslie, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Niklas Loman, Jennifer T Loud, Siranoush Manoukian, Milena Mariani, Sylvie Mazoyer, Lesley McGuffog, Hanne E J Meijers-Heijboer, Alfons Meindl, Austin Miller, Marco Montagna, Anna Marie Mulligan, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Robert L Nussbaum, Edith Olah, Olufunmilayo I Olopade, Kai-Ren Ong, Jan C Oosterwijk, Ana Osorio, Laura Papi, Sue Kyung Park, Inge Sokilde Pedersen, Bernard Peissel, Pedro Perez Segura, Paolo Peterlongo, Catherine M Phelan, Paolo Radice, Johanna Rantala, Christine Rappaport-Fuerhauser, Gad Rennert, Andrea Richardson, Mark Robson, Gustavo C Rodriguez, Matti A Rookus, Rita Katharina Schmutzler, Nicolas Sevenet, Payal D Shah, Christian F Singer, Thomas P Slavin, Katie Snape, Johanna Sokolowska, Ida Marie Heeholm Sønderstrup, Melissa Southey, Amanda B Spurdle, Zsofia Stadler, Dominique Stoppa-Lyonnet, Grzegorz Sukiennicki, Christian Sutter, Yen Tan, Muy-Kheng Tea, Manuel R Teixeira, Alex Teulé, Soo-Hwang Teo, Mary Beth Terry, Mads Thomassen, Laima Tihomirova, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Nadine Tung, Ans M W van den Ouweland, Rob B van der Luijt, Klaartje van Engelen, Elizabeth J van Rensburg, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Juul T Wijnen, Timothy Rebbeck, Georgia Chenevix-Trench, Kenneth Offit, Fergus J Couch, Silje Nord, Douglas F Easton, Antonis C Antoniou, Jacques Simard
PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. METHODS: Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2...
October 28, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27757258/measles-prevention-in-adolescents-lessons-learnt-from-implementing-a-high-school-catch-up-vaccination-programme-in-new-south-wales-australia-2014-2015
#12
Sonya Nicholl, Holly Seale, Vicky Sheppeard, Sue Campbell-Lloyd
INTRODUCTION: In response to a significant increase of measles cases and a high percentage of unvaccinated adolescents in New South Wales, Australia, a measles high school catch-up vaccination programme was implemented between August and December 2014. This study aimed to explore the factors affecting school-based supplementary immunization activities (SIAs) and to inform future SIA and routine school-based vaccination programme implementation and service provision. METHODS: Focus group analysis was conducted among public health unit (PHU) staff responsible for implementing the SIA catch-up programme...
July 2016: Western Pacific Surveillance and Response Journal: WPSAR
https://www.readbyqxmd.com/read/27749708/advocacy-motivational-interviewing-and-active-listening-help-cohesion-of-case-management-process
#13
Sue Jensen, Nina Mottern
No abstract text is available yet for this article.
November 2016: Professional Case Management
https://www.readbyqxmd.com/read/27745076/sepsis-care-getting-it-right-every-time
#14
Chris Carter, Kevin Crimmons, Sue Viveash
In the UK, there are an estimated 150,000 cases of sepsis per year, resulting in 44,000 deaths. This equates to more deaths than from bowel, breast and prostate cancer combined according to the Sepsis Trust.
September 14, 2016: Nursing Standard
https://www.readbyqxmd.com/read/27712407/linking-philosophy-and-method-in-the-research-process-the-case-for-realism
#15
Sue Proctor
The early stages of a research study involve much thought, reflection and planning. A clear understanding of the philosophical basis of the research strategy is important for a number of reasons. It helps to clarify research design; enables recognition of whether the strategy will or will not work; helps to identify and create designs beyond past experience ( 1 ); helps to ensure consistency in the application of different methods to a research question; and provides grounding for research methods within an accepted epistemological paradigm...
July 1, 1998: Nurse Researcher
https://www.readbyqxmd.com/read/27710643/nursing-and-women-s-labour-in-the-nineteenth-century-the-quest-for-independence-sue-hawkins-nursing-and-women-s-labour-in-the-nineteenth-century-the-quest-for-independence-routledge-228pp-%C3%A2-75-978-0-415-55169-4-0415551692-formula-see-text
#16
(no author information available yet)
Sue Hawkins' scholarly book explores nursing in the wider context of women's role in British society and their employment prospects in Victorian England, taking St George's Hospital in London as a case history.
November 17, 2010: Nursing Standard
https://www.readbyqxmd.com/read/27705181/birth-at-22-gestational-weeks-case-report-of-cognitive-resilience
#17
Crista A Hopp, Ida Sue Baron
OBJECTIVE: Children delivered at the edge of viability are at greatest risk of medical and neuropsychological disability, their adverse outcomes overshadowing extremely preterm survivors with more optimal outcomes. We aimed to describe an exceptionally early-born extremely preterm (EEEP) preschooler whose neurobiological, familial, and socioeconomic factors likely influenced her unexpected cognitive resilience. METHOD: Baby G was a 3-years 10-months-old, English-speaking, Caucasian, singleton girl born weighing 435 g at 22(5/7) weeks' gestation to well-educated married parents...
October 5, 2016: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/27702119/identifying-screening-criteria-for-sudden-cardiac-arrest
#18
Sue Chapman
Background Sudden cardiac arrest (SCA) is a rare but often fatal condition arising from undiagnosed cardiovascular disease. In 50 to 80 per cent of cases, sudden death is the first indication of pathology.
November 6, 2012: Nursing Children and Young People
https://www.readbyqxmd.com/read/27698568/atypical-scleromyxedema-presenting-with-cutaneous-and-cardiovascular-manifestations
#19
Sue-Ann Teh, David A Kandiah
Scleromyxedema is part of a group of cutaneous mucinoses, characterized by a generalized papular eruption, dermal mucin deposition, and an increase in dermal collagen. This condition can be localized as discrete papular lichen myxedematous skin or as a systemic condition usually associated with paraproteinaemia. To date, there is no unifying treatment and is limited by rarity, small number of case reports, and the lack of randomized controlled trials. We describe the case of a 56-year-old gentleman with features of scleromyxedema who had cutaneous and cardiac involvement, and significant mediastinal lymphadenopathy without monoclonal gammopathy...
2016: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/27688667/case-of-a-tumor-comprising-gastric-cancer-and-duodenal-neuroendocrine-tumor
#20
Hiroaki Kaneko, Akio Miyake, Yasuaki Ishii, Soichiro Sue, Haruo Miwa, Tomohiko Sasaki, Toshihide Tamura, Masaaki Kondo, Shin Maeda
The present report describes a rare case of a tumor composed of early gastric cancer and a duodenal neuroendocrine tumor (NET). A 78-year-old woman underwent esophagogastroduodenoscopy at a local institution for screening of the upper gastrointestinal tract which revealed a protruded tumor through the pyloric ring from the pyloric antrum. The tumor was too large to treat at the facility; consequently, she was referred to our hospital for further management. Esophagogastroduodenoscopy with tumor biopsy of the lesion revealed the diagnosis of early gastric cancer...
September 28, 2016: World Journal of Gastroenterology: WJG
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