keyword
MENU ▼
Read by QxMD icon Read
search

Hboc

keyword
https://www.readbyqxmd.com/read/28931501/cancer-predisposition-cascade-screening-for-hereditary-breast-ovarian-cancer-and-lynch-syndromes-in-switzerland-study-protocol
#1
Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey, Christos Nikolaidis, Rosmarie Bührer-Landolt, Nicole Buerki, Rossella Graffeo, Henrik Csaba Horváth, Christian Kurzeder, Manuela Rabaglio, Michael Scharfe, Corinne Urech, Tobias E Erlanger, Nicole Probst-Hensch, Karl Heinimann, Viola Heinzelmann-Schwarz, Olivia Pagani, Pierre O Chappuis
BACKGROUND: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management...
September 20, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28930807/breadth-of-genetic-testing-selected-by-patients-at-risk-of-hereditary-breast-and-ovarian-cancer
#2
J Brian Szender, Jasmine Kaur, Katherine Clayback, Mollie L Hutton, June Mikkelson, Kunle Odunsi, Cara Dresbold
OBJECTIVE: The aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued. METHODS: A single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories...
September 19, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28905878/detecting-splicing-patterns-in-genes-involved-in-hereditary-breast-and-ovarian-cancer
#3
Grégoire Davy, Antoine Rousselin, Nicolas Goardon, Laurent Castéra, Valentin Harter, Angelina Legros, Etienne Muller, Robin Fouillet, Baptiste Brault, Anna S Smirnova, Fréderic Lemoine, Pierre de la Grange, Marine Guillaud-Bataille, Virginie Caux-Moncoutier, Claude Houdayer, Françoise Bonnet, Cécile Blanc-Fournier, Pascaline Gaildrat, Thierry Frebourg, Alexandra Martins, Dominique Vaur, Sophie Krieger
Interpretation of variants of unknown significance (VUS) is a major challenge for laboratories performing molecular diagnosis of hereditary breast and ovarian cancer (HBOC), especially considering that many genes are now known to be involved in this syndrome. One important way these VUS can have a functional impact is through their effects on RNA splicing. Here we present a custom RNA-Seq assay plus bioinformatics and biostatistics pipeline to analyse specifically alternative and abnormal splicing junctions in 11 targeted HBOC genes...
October 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28884612/conjugation-with-20%C3%A2-kda-dextran-decreases-the-autoxidation-rate-of-bovine-hemoglobin
#4
Jun Zhang, Ying Wang, Guo-Xing You, Quan Wang, Shan Zhang, Wei-Li Yu, Tao Hu, Lian Zhao, Hong Zhou
Haemoglobin-based oxygen carrier (HBOC) is highly susceptible to autoxidation that renders a series of tissue and cellular toxicities. HBOC is prepared by chemical modification of haemoglobin (Hb), which typically increases the autoxidation rate of Hb. Thus, it is necessary to decrease the autoxidation of HBOC. In the present study, two dextran-bHb conjugates (dex20-bHb and dex40-bHb) were prepared by conjugation with 20 kDa or 40 kDa dextrans, where the thiol group of Cys-93(β) was reversibly protected...
September 8, 2017: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/28833906/final-report-of-the-committee-on-gynecologic-oncology-the-japan-society-of-obstetrics-and-gynecology-on-a-fact-finding-questionnaire-on-the-status-of-treatment-of-hereditary-breast-and-ovarian-cancer-syndrome-in-japan
#5
Toyomi Satoh, Kiyoshi Takamatsu, Nobuhiro Takeshima, Hiroshi Kobayashi, Daisuke Aoki, Nao Suzuki
Hereditary breast and ovarian cancer syndrome (HBOC) is a hereditary tumor that can be definitively diagnosed by detection of germline mutation of the BRCA1 or BRCA2 gene. The HBOC Public Awareness and Management Sub-committee of the Tumor Committee, Japan Society of Obstetrics and Gynecology carried out a fact-finding survey on the status of treatment of HBOC in Japan. The directors of medical specialty teaching facilities were notified of the questionnaire by post, with the request for one respondent per facility...
August 17, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28807866/brca1-2-missense-mutations-and-the-value-of-in-silico-analyses
#6
Carolin E Sadowski, Daniela Kohlstedt, Cornelia Meisel, Katja Keller, Kerstin Becker, Luisa Mackenroth, Andreas Rump, Evelin Schröck, Pauline Wimberger, Karin Kast
INTRODUCTION: The clinical implications of genetic variants in BRCA1/2 in healthy and affected individuals are considerable. Variant interpretation, however, is especially challenging for missense variants. The majority of them are classified as variants of unknown clinical significance (VUS). Computational (in-silico) predictive programs are easy to access, but represent only one tool out of a wide range of complemental approaches to classify VUS. With this single-center study, we aimed to evaluate the impact of in-silico analyses in a spectrum of different BRCA1/2 missense variants...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28794333/development-of-time-course-oxygen-binding-analysis-for-hemoglobin-based-oxygen-carriers
#7
Yukihiro Okamoto, Shigenori Sugisaki, Keishi Suga, Hiroshi Umakoshi
Developing blood substitutes is in urgent demand for chronic blood shortage all over the world. In this connection, the oxygen binding behavior of hemoglobin-based oxygen carriers (HBOCs) is one of the most important characteristics. However, present methods available for estimating oxygen binding behavior have need of expensive apparatus, and also are not suitable for high-throughput and the time-course analysis. To overcome these problems, we proposed a simple analysis method for the time-course oxygen binding behavior of HBOCs, which employs a general UV-Vis microplate reader and a common reagent, sodium dithionite, as a reductant for HBOCs and an oxygen scavenger...
2017: Analytical Sciences: the International Journal of the Japan Society for Analytical Chemistry
https://www.readbyqxmd.com/read/28755016/numerical-investigation-of-oxygen-transport-by-hemoglobin-based-carriers-through-microvessels
#8
Toru Hyakutake, Takumi Kishimoto
The small size of hemoglobin-based oxygen carriers (HBOCs) may expand the realm of new treatment possibilities for various circulatory diseases. The parametric evaluation of HBOC performance for oxygen transport within tissue is essential for effectively characterizing its performance for each circulatory disease assessed. Thus, the overarching objective of this present study was to numerically investigate the reaction-diffusion phenomenon of oxygenated HBOCs and oxygen on tissues through microvessels. We considered dissociation rate coefficients, oxygen affinity, and diffusion coefficients due to Brownian motion as the biophysical parameters for estimating HBOC performance for oxygen transport...
July 28, 2017: Journal of Artificial Organs: the Official Journal of the Japanese Society for Artificial Organs
https://www.readbyqxmd.com/read/28744782/storage-of-nitroglycerin-ntg-admixed-with-hboc-201-for-30%C3%A2-days-in-polyolefin-plastic-bags-a-pilot-study
#9
Savita Nigam, Richard McCarron, Francoise Arnaud
Hemorrhaged animals have benefited from resuscitation with the hemoglobin-based oxygen carrier (HBOC-201). Co-infusion of nitric oxide (NO) via separate intravascular lines is effective in attenuating HBOC-induced elevation of blood pressure. We tested whether nitroglycerin (NTG) and HBOC-201 can be packaged together as a single drug for resuscitation. Since NTG binds easily to plastics such as polyvinylchloride, we assessed the stability of this combination in oxygen barrier double-layer ethylene-vinyl alcohol/polyolefin bags over a 30-day period...
July 25, 2017: Drug Delivery and Translational Research
https://www.readbyqxmd.com/read/28738860/germline-emsy-sequence-alterations-in-hereditary-breast-cancer-and-ovarian-cancer-families
#10
Kirsi M Määttä, Riikka Nurminen, Minna Kankuri-Tammilehto, Anne Kallioniemi, Satu-Leena Laasanen, Johanna Schleutker
BACKGROUND: BRCA1 and BRCA2 mutations explain approximately one-fifth of the inherited susceptibility in high-risk Finnish hereditary breast and ovarian cancer (HBOC) families. EMSY is located in the breast cancer-associated chromosomal region 11q13. The EMSY gene encodes a BRCA2-interacting protein that has been implicated in DNA damage repair and genomic instability. We analysed the role of germline EMSY variation in breast/ovarian cancer predisposition. The present study describes the first EMSY screening in patients with high familial risk for this disease...
July 24, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28737998/examination-of-the-patient-focused-impact-of-cancer-telegenetics-among-a-rural-population-comparison-with-traditional-in-person-services
#11
Nan M Solomons, Amanda E Lamb, Frances L Lucas, Eileen F McDonald, Susan Miesfeldt
BACKGROUND: Telecommunication models promise to improve access to cancer genetic counseling. Little is known about their impact among the geographically underserved. This work examined knowledge and emotional outcomes and attitudes/beliefs regarding cancer telegenetic services (via live-interactive videoconferencing) in Maine. MATERIALS AND METHODS: Cancer telegenetic patients seen at two remote sites and control (in-person) patients responded to pre-/postsurveys assessing care impact on hereditary breast and ovarian cancer (HBOC) knowledge and emotional health, ease of access to services, and telegenetics satisfaction/acceptability...
July 21, 2017: Telemedicine Journal and E-health: the Official Journal of the American Telemedicine Association
https://www.readbyqxmd.com/read/28706762/metastatic-breast-cancer-with-brca-mutation-discovered-by-next-generation-sequencing-responding-to-olaparib
#12
Wajeeha Rizvi, Phu Truong, Quoc Truong
Breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) mutations are associated with hereditary breast and ovarian cancer syndromes (HBOC). However, certain individuals with breast cancer do not meet high-risk factors for hereditary breast cancer screening based on age, family history, and biology of malignancy. We present a patient with relapsed breast cancer who developed progressive disease with significant tumor burden causing a recurrent pleural effusion. Next-generation sequencing (NGS) done on a tumor biopsy was positive for the BRCA2 mutation...
June 11, 2017: Curēus
https://www.readbyqxmd.com/read/28690658/influence-of-the-angelina-jolie-announcement-and-insurance-reimbursement-on-practice-patterns-for-hereditary-breast-cancer
#13
Jihyoun Lee, Sungwon Kim, Eunyoung Kang, Suyeon Park, Zisun Kim, Min Hyuk Lee
Lack of awareness, the stigma of carrying a genetic mutation, and economic factors are barriers to acceptance of BRCA genetic testing or appropriate risk management. We aimed to investigate the influence of Angelina Jolie's announcement of her medical experience and also health insurance reimbursement for BRCA gene testing on practice patterns for hereditary breast and ovarian cancer (HBOC). A survey regarding changes in practice patterns for HBOC before and after the announcement was conducted online. The rate of BRCA gene testing was obtained from the National Health Insurance Review and Assessment Service database...
June 2017: Journal of Breast Cancer
https://www.readbyqxmd.com/read/28685464/hemoglobin-based-oxygen-carrier-hboc-development-in-trauma-previous-regulatory-challenges-lessons-learned-and-a-path-forward
#14
Peter E Keipert
Historically, hemoglobin-based oxygen carriers (HBOCs) were being developed as "blood substitutes," despite their transient circulatory half-life (~ 24 h) vs. transfused red blood cells (RBCs). More recently, HBOC commercial development focused on "oxygen therapeutic" indications to provide a temporary oxygenation bridge until medical or surgical interventions (including RBC transfusion, if required) can be initiated. This included the early trauma trials with HemAssist (®) (BAXTER), Hemopure (®) (BIOPURE) and PolyHeme (®) (NORTHFIELD) for resuscitating hypotensive shock...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28620890/identification-and-characterization-of-a-new-brca2-rearrangement-in-an-italian-family-with-hereditary-breast-and-ovarian-cancer-syndrome
#15
Paola Concolino, Roberta Rizza, Karl Hackmann, Angelo Minucci, Giovanni Luca Scaglione, Maria De Bonis, Alessandra Costella, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
INTRODUCTION: Many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 account for 0-27% of all disease-causing mutations in various populations, while LGRs in BRCA2 are rarer. Here, we describe a novel BRCA2 LGR, involving the duplication of exons 4-26, in an Italian family with hereditary breast and ovarian cancer (HBOC) syndrome. OBJECTIVE: Our purpose was to provide an effective characterization of this variant using a combination of different methods able to establish the exact breakpoints of the duplication...
June 15, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28601310/hemoglobin-based-oxygen-carriers-promote-systemic-hyperfibrinolysis-that-is-both-dependent-and-independent-of-plasmin
#16
Alexander P Morton, Ernest E Moore, Hunter B Moore, Eduardo Gonzalez, Michael P Chapman, Erik Peltz, Anirban Banerjee, Christopher Silliman
BACKGROUND: Hyperfibrinolysis plays an integral role in the genesis of trauma-induced coagulopathy. Recent data demonstrate that red blood cell lysis promotes fibrinolysis; however, the mechanism is unclear. Hemoglobin-based oxygen carriers (HBOCs) have been developed for resuscitation and have been associated with coagulopathy. We hypothesize that replacement of whole blood (WB) using an HBOC results in a coagulopathy because of the presence of free hemoglobin. MATERIALS AND METHODS: WB was sampled from healthy donors (n = 6)...
June 1, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28585086/a-mechanistic-study-of-geminal-dicationic-ionic-liquids-as-mobile-phase-additives-for-improving-the-separation-performance-of-high-performance-liquid-chromatography
#17
Guanglong Ding, Wenbing Zhang, Zhaopeng Zhang, Dong Guo, Gang Tang, Yanran Li, Jianqiang Li, Yongsong Cao
Due to the acidity and strong polarity of auxinic herbicides, separation of these compounds in food and environmental samples is a great challenge. In this study, 12 geminal dicationic ionic liquids (GDILs) were synthesized and used as mobile phase additives to separate six auxinic herbicides. The effects of the kind of dication, the length of linkage chain, the kind of anion, the concentration of GDILs, and the pH of mobile phase for the separation were investigated in detail. Compared with [C4MIm][BF4], GDILs ([C8(MIm)2][BF4]2) showed higher resolution, better peak shape, and lower retention factor...
June 6, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28573517/video-education-on-hereditary-breast-and-ovarian-cancer-hboc-for-physicians-an-interventional-study
#18
Bhuma Krishnamachari, Mahin Rehman, Jason E Cohn, Vivian Chan, Neil Modi, Ofri Leitner, Kelly Tangney, April O'Connor, William Blazey, Sharon Koehler, David Tegay
The National Comprehensive Cancer Network (NCCN) guidelines are the gold standard in hereditary cancer risk assessment, screening, and treatment. A minority of physicians follow NCCN guidelines for BRCA1 or BRCA2 mutations. This study assesses the impact of an interventional educational program on HBOC in terms of knowledge. Physicians were sent an invite to join either an intervention survey (web-training offered prior to the knowledge survey) or control survey (web-training offered after the knowledge survey)...
June 1, 2017: Journal of Cancer Education: the Official Journal of the American Association for Cancer Education
https://www.readbyqxmd.com/read/28542378/familial-breast-cancer-genetic-counseling-over-time-including-patients%C3%A2-expectations-and-initiators-considering-the-angelina-jolie-effect
#19
Christina Evers, Christine Fischer, Nicola Dikow, Sarah Schott
PURPOSE: The German Consortium for hereditary breast/ovarian cancer (GC-HBOC) aims for nationwide access to professional, individualized yet structured care for families at high risk. The identification of such families remains key for optimal care. Our study evaluates counselees' characteristics, referral practices, expectations and motivations in respect to their first genetic consultation. The impact of the Angelina Jolie Effect (AJE) was prospectively assessed. METHODS: All counselees could participate through a questionnaire...
2017: PloS One
https://www.readbyqxmd.com/read/28521553/glutaraldehyde-polymerized-hemoglobin-and-tempol-polyhb-tempol-has-superoxide-dismutase-activity-that-can-attenuate-oxidative-stress-on-endothelial-cells-induced-by-superoxide-anion
#20
Mengdi Wu, Kun Feng, Qiuhui Li, Huiya Ma, Hongli Zhu, Yudou Xie, Gaofei Yan, Chao Chen, Kunping Yan
A Tempol compound with an amine group (4-amino-2,2,6,6-tetramethylpiperidine-1-oxyl, NH2-Tempol) was cross-linked to hemoglobin in a one-step polymerization reaction to produce a novel hemoglobin-based oxygen carrier (HBOC) designated PolyHb-Tempol. The reaction parameters, including the reaction time, pH, temperature, and ratio of reactants, were optimized, and the physiochemical properties of the resulting product were characterized. PolyHb-Tempol didn't show any toxicity towards endothelial cells. Furthermore, from observations of cell morphology and viability, PolyHb-Tempol showed a significant ability to inhibit or eliminate oxidative stress induced by superoxide free radicals...
May 18, 2017: Artificial Cells, Nanomedicine, and Biotechnology
keyword
keyword
30286
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"