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https://www.readbyqxmd.com/read/29785153/prevalence-of-deleterious-mutations-among-patients-with-breast-cancer-referred-for-multigene-panel-testing-in-a-romanian-population
#1
Iulian Gabriel Goidescu, Gabriela Caracostea, Dan Tudor Eniu, Florin Vasile Stamatian
Aim: Multigene panel testing for Hereditary Breast and Ovarian Cancer (HBOC) using next generation sequencing is becoming more common in medical care.We report our experience regarding deleterious mutations of high and moderate-risk breast cancer genes (BRCA1/2, TP53, STK11, CDH1, PTEN, PALB2, CHEK2, ATM), as well as more recently identified cancer genes, many of which have increased risk but less well-defined penetrance. Methods: Genetic testing was performed in 130 consecutive cases with breast cancer referred to our clinic for surgical evaluation and who met the 2016 National Comprehensive Cancer Network (NCCN) criteria for genetic testing...
2018: Clujul Medical (1957)
https://www.readbyqxmd.com/read/29767749/association-of-brca2-k3326-with-small-cell-lung-cancer-and-squamous-cell-cancer-of-the-skin
#2
Thorunn Rafnar, Gudbjorg R Sigurjonsdottir, Simon N Stacey, Gisli Halldorsson, Patrick Sulem, Luba M Pardo, Hannes Helgason, Stefan T Sigurdsson, Thorkell Gudjonsson, Laufey Tryggvadottir, Gudridur H Olafsdottir, Jon G Jonasson, Kristin Alexiusdottir, Asgeir Sigurdsson, Julius Gudmundsson, Jona Saemundsdottir, Jon K Sigurdsson, Hrefna Johannsdottir, Andre Uitterlinden, Sita H Vermeulen, Tessel E Galesloot, Dawn C Allain, Martin Lacko, Bardur Sigurgeirsson, Kristin Thorisdottir, Oskar T Johannsson, Fridbjorn Sigurdsson, Gunnar B Ragnarsson, Helgi Isaksson, Hronn Hardardottir, Tomas Gudbjartsson, Daniel F Gudbjartsson, Gisli Masson, Lambertus A M L Kiemeney, Amanda Ewart Toland, Tamar Nijsten, Wilbert H M Peters, Jon H Olafsson, Steinn Jonsson, Unnur Thorsteinsdottir, Gudmar Thorleifsson, Kari Stefansson
Background: Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer. The Icelandic population provides an opportunity for comprehensive characterization of the cancer risk profiles of K3326* and HBOC mutations because a single mutation, BRCA2 999del5, is responsible for almost all BRCA2-related HBOC in the population...
May 14, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29750819/correction-brca1-and-brca2-mutational-profile-and-prevalence-in-hereditary-breast-and-ovarian-cancer-hboc-probands-from-southern-brazil-are-international-testing-criteria-appropriate-for-this-specific-population
#3
Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla
[This corrects the article DOI: 10.1371/journal.pone.0187630.].
2018: PloS One
https://www.readbyqxmd.com/read/29745764/influence-of-polydopamine-mediated-surface-modification-on-oxygen-release-capacity-of-haemoglobin-based-oxygen-carriers
#4
Quan Wang, Ruirui Zhang, Guoxing You, Jilin Hu, Penglong Li, Ying Wang, Jun Zhang, Yan Wu, Lian Zhao, Hong Zhou
Oxidative toxicity has impeded the development of haemoglobin-based oxygen carriers (HBOCs) by causing methaemoglobin (MetHb) formation and inducing oxidative stress. In our previous work, polydopamine-coated haemoglobin (Hb-PDA) nanoparticles have been designed and synthesized with the capacity to reduce oxidative toxicity. In this investigation, the mass ratio of dopamine (DA) to haemoglobin (Hb) and the pH value are found to be the primary factors that influence preparation of Hb-PDA nanoparticles. X-ray photoelectron spectroscopy showed that the catechol groups of DA play a crucial role in the modification of Hb surface...
May 10, 2018: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/29677087/military-supplement-perfluorocarbon-gas-transport-an-overview-of-medical-history-with-yet-unrealized-potentials
#5
Bruce D Spiess
Perfluorocarbon (PFCs) compounds have been a hereto fore under realized pharmaceutical class of intravenous emulsions and respiratory adjuvants researched extensively since the late 1970. This review represents an introduction for a series of more detailed lectures/manuscripts that were part of a combined United States collaborative Federal agency meeting in early February, 2017 at Ft Detrick, MD, focused upon potential technologies in development to fulfill a perceived need: "When blood transfusion is not available...
April 19, 2018: Shock
https://www.readbyqxmd.com/read/29665859/morphology-and-genomic-hallmarks-of-breast-tumours-developed-by-atm-deleterious-variant-carriers
#6
Anne-Laure Renault, Noura Mebirouk, Laetitia Fuhrmann, Guillaume Bataillon, Eve Cavaciuti, Dorothée Le Gal, Elodie Girard, Tatiana Popova, Philippe La Rosa, Juana Beauvallet, Séverine Eon-Marchais, Marie-Gabrielle Dondon, Catherine Dubois d'Enghien, Anthony Laugé, Walid Chemlali, Virginie Raynal, Martine Labbé, Ivan Bièche, Sylvain Baulande, Jacques-Olivier Bay, Pascaline Berthet, Olivier Caron, Bruno Buecher, Laurence Faivre, Marc Fresnay, Marion Gauthier-Villars, Paul Gesta, Nicolas Janin, Sophie Lejeune, Christine Maugard, Sébastien Moutton, Laurence Venat-Bouvet, Hélène Zattara, Jean-Pierre Fricker, Laurence Gladieff, Isabelle Coupier, Georgia Chenevix-Trench, Janet Hall, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur
BACKGROUND: The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management. METHODS: To characterise hallmarks of ATM-associated tumours, we performed systematic pathology review of tumours from 21 participants from ataxia-telangiectasia families and 18 participants from HBOC families, as well as copy number profiling on a subset of 23 tumours...
April 17, 2018: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29659587/can-chimerism-explain-breast-ovarian-cancers-in-brca-non-carriers-from-brca-positive-families
#7
Rachel Mitchell, Lela Buckingham, Melody Cobleigh, Jacob Rotmensch, Kelly Burgess, Lydia Usha
Hereditary breast and ovarian cancer syndrome (HBOC) is most frequently caused by mutations in BRCA1 or BRCA2 (in short, BRCA) genes. The incidence of hereditary breast and ovarian cancer in relatives of BRCA mutation carriers who test negative for the familial mutation (non-carriers) may be increased. However, the data is controversial, and at this time, these individuals are recommended the same cancer surveillance as general population. One possible explanation for BRCA phenocopies (close relatives of BRCA carriers who have developed cancer consistent with HBOC but tested negative for a familial mutation) is natural chimerism where lack of detectable mutation in blood may not rule out the presence of the mutation in the other tissues...
2018: PloS One
https://www.readbyqxmd.com/read/29644780/support-needs-of-couples-with-hereditary-breast-and-ovarian-cancer-during-reproductive-decision-making
#8
J J G Gietel-Habets, C E M de Die-Smulders, I A P Derks-Smeets, A Tibben, V C G Tjan-Heijnen, R van Golde, E Gomez-Garcia, L A D M van Osch
OBJECTIVE: Reproductive decision-making for couples with hereditary breast and ovarian cancer (HBOC) is complex and can result in decisional conflict or -regret. This study investigated couples' support needs and aimed to identify vulnerable couples. Ultimately we should strive to develop a clear standard of care guideline regarding reproductive decision-support. METHODS: Mixed methods were used for data collection. A focus group study was conducted among 18 couples (N=35) with HBOC who had made a reproductive decision after reproductive counselling...
April 12, 2018: Psycho-oncology
https://www.readbyqxmd.com/read/29592539/pharmacotherapy-in-acutely-anemic-jehovah-s-witnesses-an-evidence-based-review
#9
Sean M McConachie, Zinah Almadrahi, Krista A Wahby, Sheila M Wilhelm
OBJECTIVE: To determine the pharmacological treatment methods available to anemic Jehovah's Witnesses (JW). DATA SOURCES: MEDLINE and PubMed were searched from inception through February 2018 using the search terms Jehovah's Witnesses, treatment, erythropoietin, hemoglobin-based oxygen carrier, Sanguinate, Hemopure, bleeding, and anemia. STUDY SELECTION AND DATA EXTRACTION: All clinical trials, cohort studies, case-control studies, and observational trials involving pharmacotherapy in anemic JW patients were evaluated...
March 1, 2018: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/29580857/analytical-interference-of-hboc-201-hemopure-a-synthetic-hemoglobin-based-oxygen-carrier-on-four-common-clinical-chemistry-platforms
#10
Erik A Korte, Nicole Pozzi, Nina Wardrip, M Tayyeb Ayyoubi, Saeed A Jortani
BACKGROUND: There are 13 million blood transfusions each year in the US. Limitations in the donor pool, storage capabilities, mass casualties, access in remote locations and reactivity of donors all limit the availability of transfusable blood products to patients. HBOC-201 (Hemopure®) is a second-generation glutaraldehyde-polymer of bovine hemoglobin, which can serve as an "oxygen bridge" to maintain oxygen carrying capacity while transfusion products are unavailable. Hemopure presents the advantages of extended shelf life, ambient storage, and limited reactive potential, but its extracellular location can also cause significant interference in modern laboratory analyzers similar to severe hemolysis...
March 23, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29570666/a-whole-germline-brca2-gene-deletion-how-to-learn-from-cnv-in-silico-analysis
#11
Giovanni Luca Scaglione, Paola Concolino, Maria De Bonis, Elisa De Paolis, Angelo Minucci, Gabriella Ferrandina, Giovanni Scambia, Ettore Capoluongo
BRCA1/2 screening in Hereditary Breast and Ovarian Syndrome (HBOC) is an essential step for effective patients' management. Next-Generation Sequencing (NGS) can rapidly provide high throughput and reliable information about the qualitative and quantitative status of tumor-associated genes. Straightforwardly, bioinformatics methods play a key role in molecular diagnostics pipelines. BRCA1/2 genes were evaluated with our NGS workflow, coupled with Multiplex Amplicon Quantification (MAQ) and Multiplex Ligation-dependent Probe Amplification (MLPA) assays...
March 23, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29570272/a-comprehensive-biochemical-and-biophysical-characterization-of-hemoglobin-based-oxygen-carrier-hboc-therapeutics-all-hbocs-are-not-created-equally
#12
Fantao Meng, Tigist Kassa, Sirsendu Jana, Francine Wood, Xiaoyuan Zhang, Yiping Jia, Felice D'Agnillo, Abdu I Alayash
The development of hemoglobin (Hb)-based oxygen carriers (HBOCs) has been hampered because of safety concerns in humans. Chemical and/or genetic modifications of the Hb introduce varied structural and conformational constraint on the molecule that resulted in proteins with diverse allosteric responses, nitrosative and oxidative side reactions. Here, we present for the first time a comprehensive biochemical and biophysical comparison of human, bovine and genetically engineered HBOCs that have been tested in humans...
March 23, 2018: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29534594/rapid-screening-test-of-most-frequent-brca1-brca2-pathogenic-variants-in-the-ngs-era
#13
D Zidekova, I Waczulikova, L Dolesova, L Vavrova, O Hamidova, R Lohajova Behulova, M Konecny
The average risk of breast cancer in general Slovak population of women is 4-5% and the risk of ovarian cancer is 2%. Probability of breast/ovarian cancer development is higher in individuals carrying a causative germline DNA variant in BRCA1 or BRCA2 gene responsible for hereditary breast/ovarian cancer (HBOC). Although a major proportion of inherited breast/ovarian cancers are due to the mentioned causal mutations, a number of new genes have emerged. Here we describe a rapid, multiplex and comprehensive approach for the detection of pathogenic variants in BRCA1 and BRCA2 genes which most frequently occur in Slovak HBOC population...
2018: Neoplasma
https://www.readbyqxmd.com/read/29533098/ferulic-acid-modification-enhances-the-anti-oxidation-activity-of-natural-hb-in-vitro
#14
Donglai Qi, Qian Li, Chen Chen, Xiang Wang
During the development of artificial red blood cell (RBC) substitutes, oxidation side reaction is one of the major factors that hinder the application of haemoglobin (Hb)-based oxygen carriers (HBOCs). In order to avoid oxidation toxicity, we designed and prepared natural Hb conjugated with ferulic acid (FA) via simple chemical modification. In addition, the thiol groups on Hb surface were increased via the reaction of Hb with 2-iminothiolane (2-IT) and then modified with FA for the study of anti-oxidant ability...
March 13, 2018: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/29514593/prevalence-of-pathogenic-brca1-2-germline-mutations-among-802-women-with-unilateral-triple-negative-breast-cancer-without-family-cancer-history
#15
Christoph Engel, Kerstin Rhiem, Eric Hahnen, Sibylle Loibl, Karsten E Weber, Sabine Seiler, Silke Zachariae, Jan Hauke, Barbara Wappenschmidt, Anke Waha, Britta Blümcke, Marion Kiechle, Alfons Meindl, Dieter Niederacher, Claus R Bartram, Dorothee Speiser, Brigitte Schlegelberger, Norbert Arnold, Peter Wieacker, Elena Leinert, Andrea Gehrig, Susanne Briest, Karin Kast, Olaf Riess, Günter Emons, Bernhard H F Weber, Jutta Engel, Rita K Schmutzler
BACKGROUND: There is no international consensus up to which age women with a diagnosis of triple-negative breast cancer (TNBC) and no family history of breast or ovarian cancer should be offered genetic testing for germline BRCA1 and BRCA2 (gBRCA) mutations. Here, we explored the association of age at TNBC diagnosis with the prevalence of pathogenic gBRCA mutations in this patient group. METHODS: The study comprised 802 women (median age 40 years, range 19-76) with oestrogen receptor, progesterone receptor, and human epidermal growth factor receptor type 2 negative breast cancers, who had no relatives with breast or ovarian cancer...
March 7, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29508415/preclinical-in-vitro-safety-investigations-of-submicron-sized-hemoglobin-based-oxygen-carrier-hbmp-700
#16
Ijad Kao, Yu Xiong, Axel Steffen, Kathrin Smuda, Lian Zhao, Radostina Georgieva, Axel Pruss, Hans Bäumler
Hemoglobin-based oxygen carriers (HBOCs) are being developed as oxygen and plasma volume-expanding therapeutics though their potential to promote oxidative tissue injury and nitric oxide (NO) scavenging combined with vasoconstriction has raised safety concerns. Therefore, we focused on these aspects during preclinical studies performed with the recently introduced hemoglobin microparticles (HbMP-700). Besides oxidative stress, we investigated possible vasoconstrictory influence of HBOCs as well as genetic toxicity...
March 6, 2018: Artificial Organs
https://www.readbyqxmd.com/read/29487695/rapid-detection-of-brca1-2-recurrent-mutations-in-chinese-breast-and-ovarian-cancer-patients-with-multiplex-snapshot-genotyping-panels
#17
Ava Kwong, John C W Ho, Vivian Y Shin, Allison W Kurian, Edmund Tai, Laura J Esserman, Jeffery N Weitzel, Po-Han Lin, Michael Field, Susan M Domchek, Jessica Lo, Hextan Y S Ngan, Edmond S K Ma, Tsun L Chan, James M Ford
BRCA1/2 mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in which nearly half are recurrent mutations. In Hong Kong and China, genetic testing and counseling are not as common as in the West. To reduce the barrier of testing, a multiplex SNaPshot genotyping panel that targeted 25 Chinese BRCA1/2 mutation hotspots was developed, and its feasibility was evaluated in a local cohort of 441 breast and 155 ovarian cancer patients...
January 30, 2018: Oncotarget
https://www.readbyqxmd.com/read/29435075/-brca1-homozygous-unclassified-variant-in-a-patient-with-non-fanconi-anemia-a-case-report
#18
Bondavalli Davide, Malvestiti Francesca, Pensotti Valeria, Feroce Irene, Bonanni Bernardo
The present case report discusses a woman affected by chronic lymphatic leukemia and breast cancer with a familial history of breast cancer; suspected to be hereditary breast and ovarian cancer (HBOC) syndrome. The patient underwent BRCA1 and BRCA2 genetic testing. Sequencing of BRCA1 revealed the presence of the variant of unknown significance (VUS) c.3082C>T (p.Arg1028Cys) at homozygous state, whereas no mutations were detected in BRCA2 . Multiplex ligation-dependent probe amplification confirmed the presence of two alleles...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29427345/crosstalk-of-dna-double-strand-break-repair-pathways-in-poly-adp-ribose-polymerase-inhibitor-treatment-of-breast-cancer-susceptibility-gene-1-2-mutated-cancer
#19
REVIEW
Shigeaki Sunada, Akira Nakanishi, Yoshio Miki
Germline mutations in breast cancer susceptibility gene 1 or 2 (BRCA1 or BRCA2) significantly increase cancer risk in hereditary breast and ovarian cancer syndrome (HBOC). Both genes function in the homologous recombination (HR) pathway of the DNA double-strand break (DSB) repair process. Therefore, the DNA-repair defect characteristic of cancer cells brings about a therapeutic advantage for poly(ADP-ribose) polymerase (PARP) inhibitor-induced synthetic lethality. PARP inhibitor-based therapeutics initially cause cancer lethality but acquired resistance mechanisms have been found and need to be elucidated...
April 2018: Cancer Science
https://www.readbyqxmd.com/read/29425776/the-effects-of-hemoglobin-glutamer-200-and-ino-on-pulmonary-vascular-tone-and-arterial-oxygenation-in-an-experimental-acute-respiratory-distress-syndrome
#20
Maria Theresa Voelker, Andreas Bergmann, Thilo Busch, Nora Jahn, Sven Laudi, Katharina Noreikat, Philipp Simon, Sven Bercker
INTRODUCTION: Hemoglobin-based oxygen carriers (HBOC) have been developed as an alternative to blood transfusions. Their nitric-oxide-scavenging properties HBOC also induce vasoconstriction. In acute lung injury, an excess of nitric oxide results in a general vasodilation, reducing oxygenation by impairing the hypoxic pulmonary vasoconstriction. Inhaled nitric oxide (iNO) is used to correct the ventilation perfusion mismatch. We hypothesized that the additional use of HBOC might increase this effect...
April 2018: Pulmonary Pharmacology & Therapeutics
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