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https://www.readbyqxmd.com/read/29308099/evaluation-of-a-27-gene-inherited-cancer-panel-across-630-consecutive-patients-referred-for-testing-in-a-clinical-diagnostic-laboratory
#1
Sabrina A Gardner, Katelyn S Weymouth, Wei S Kelly, Ekaterina Bogdanova, Wenjie Chen, Daniel Lupu, Joshua Suhl, Qiandong Zeng, Ute Geigenmüller, Debbie Boles, Patricia M Okamoto, Geraldine McDowell, Melissa A Hayden, Narasimhan Nagan
Background: Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and nonsyndromic forms of cancer. This study reports our experience with a 27-gene inherited cancer panel on a cohort of 630 consecutive individuals referred for testing at our laboratory with the following objectives: 1. Determine the rates for positive cases and those with variants of uncertain clinical significance (VUS) relative to data published in the recent literature, 2...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29302806/changes-in-classification-of-genetic-variants-in-brca1-and-brca2
#2
Karin Kast, Pauline Wimberger, Norbert Arnold
INTRODUCTION: Classification of variants of unknown significance (VUS) in the breast cancer genes BRCA1 and BRCA2 changes with accumulating evidence for clinical relevance. In most cases down-staging towards neutral variants without clinical significance is possible. METHODS: We searched the database of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) for changes in classification of genetic variants as an update to our earlier publication on genetic variants in the Centre of Dresden...
January 4, 2018: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/29300382/proposed-outcomes-measures-for-state-public-health-genomic-programs
#3
Debra Lochner Doyle, Mindy Clyne, Juan L Rodriguez, Deborah L Cragun, Laura Senier, Georgia Hurst, Kee Chan, David A Chambers
PurposeTo assess the implementation of evidence-based genomic medicine and its population-level impact on health outcomes and to promote public health genetics interventions, in 2015 the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine formed an action collaborative, the Genomics and Public Health Action Collaborative (GPHAC). This group engaged key stakeholders from public/population health agencies, along with experts in the fields of health disparities, health literacy, implementation science, medical genetics, and patient advocacy...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29287922/gynaecological-neoplasms-in-common-familial-syndromes-lynch-and-hboc
#4
REVIEW
Carla Bartosch, Blaise Clarke, Tjalling Bosse
Recognising hereditary predisposition in a cancer patient has implications both for the patient and the patient's kindred. For the latter, cascade germline testing can reassure those not-at-risk family members while carriers can be enrolled in cancer screening and prevention programs that are medically effective and economically sustainable for health care systems. Furthermore, in many of these syndromes, ramifications of molecular phenotypes are increasing, and it is now emerging that, in addition, they convey prognostic and predictive information...
December 26, 2017: Pathology
https://www.readbyqxmd.com/read/29281862/normothermic-machine-perfusion-of-donor-livers-without-the-need-for-human-blood-products
#5
Alix P M Matton, Laura C Burlage, Rianne van Rijn, Yvonne de Vries, Shanice A Karangwa, Maarten W Nijsten, Annette S H Gouw, Janneke Wiersema-Buist, Jelle Adelmeijer, Andrie C Westerkamp, Ton Lisman, Robert J Porte
BACKGROUND: Normothermic machine perfusion (NMP) enables viability assessment of donor livers prior to transplantation. NMP is frequently performed using human blood products including red blood cells (RBC) and fresh frozen plasma (FFP). Our aim was to examine the efficacy of a novel machine perfusion solution based on polymerized bovine hemoglobin HBOC-201. METHODS: Twenty-four livers declined for transplantation were transported using static cold storage. Upon arrival, livers underwent NMP for 6 hours using pressure-controlled portal and arterial perfusion...
December 27, 2017: Liver Transplantation
https://www.readbyqxmd.com/read/29259228/metabolomics-reveals-novel-blood-plasma-biomarkers-associated-to-the-brca1-mutated-phenotype-of-human-breast-cancer
#6
Bàrbara Roig, Marta Rodríguez-Balada, Sara Samino, Eric W-F Lam, Sandra Guaita-Esteruelas, Ana R Gomes, Xavier Correig, Joan Borràs, Oscar Yanes, Josep Gumà
Hereditary breast and ovarian cancer syndrome (HBOC) is partly due to the presence of mutations in the BRCA genes. Triple-negative (TN) breast cancer (BC) shares histological characteristics with germline BRCA1 mutation-associated tumours. We have investigated the metabolic profiles of human breast cancer (BC) cell lines carrying BRCA1 pathogenic mutations by non-targeted liquid chromatography coupled to mass spectrometry technology. Based on our in vitro results, we performed a targeted metabolomic analysis of plasma samples from TN HBOC patients taking into account their BRCA1 genotype...
December 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29251290/comparing-outcomes-of-genetic-counseling-options-in-breast-and-ovarian-cancer-an-integrative-review%C3%A2
#7
Danielle M Fournier, Angela F Bazzell, Joyce E Dains
PROBLEM IDENTIFICATION: Genetic counseling is vital in helping people at high risk for hereditary breast and ovarian cancer (HBOC) make informed decisions to undergo BRCA testing. Many people, particularly those in rural locations, lack access to these services. This review examines evidence to determine if remotely delivered genetic counseling via telephone or telemedicine is an effective alternative to in-person counseling for people who are at high risk for HBOC.
. LITERATURE SEARCH: A literature review was completed by searching PubMed, SCOPUS, and CINAHL® databases...
January 1, 2018: Oncology Nursing Forum
https://www.readbyqxmd.com/read/29215753/combined-annotation-dependent-depletion-cadd-score-for-brca1-2-variants-in-patients-with-breast-and-or-ovarian-cancer
#8
Hiroshi Nakagomi, Hitoshi Mochizuki, Masayuki Inoue, Yosuke Hirotsu, Kenji Amemiya, Ikuko Sakamoto, Satoko Nakagomi, Takeo Kubota, Masao Omata
The utility of Combined Annotation Dependent Depletion (CADD) Score was recently reported to rank the pathogenicity as C-scores ranging 1 to 99 for both convinced deleterious mutations and missense mutations. Using C-scores for BRCA1/2 variants, we tried to constitute the classification system for Variant of Uncertain Significance (VUS), which had been major problem of genetic testing for Hereditary Breast and/or Ovarian Cancer (HBOC). We analyzed BRCA1/2 genes for 283 patients with breast and/or ovarian cancer...
December 7, 2017: Cancer Science
https://www.readbyqxmd.com/read/29185095/management-of-hereditary-breast-and-ovarian-cancer
#9
REVIEW
Hideko Yamauchi, Junko Takei
Hereditary breast and ovarian cancer (HBOC) syndrome represents 5-10% of all breast cancers. In Japan, the HBOC syndrome is frequently diagnosed in patients with breast cancer. Therefore, a treatment strategy combining a plan for existing breast cancer and for reduction of future breast and ovarian cancer risk is necessary. Breast cancer risk-reducing management involves three options-surveillance, chemoprevention, and risk-reducing mastectomy (RRM). RRM can prevent >90% of new breast cancers. Ovarian cancer risk management options are more limited, and risk-reduction salpingo-oophorectomy is the only option since there is no proven effective early detection method available...
November 28, 2017: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29176636/genetic-and-clinical-characteristics-in-japanese-hereditary-breast-and-ovarian-cancer-first-report-after-establishment-of-hboc-registration-system-in-japan
#10
Masami Arai, Shiro Yokoyama, Chie Watanabe, Reiko Yoshida, Mizuho Kita, Megumi Okawa, Akihiro Sakurai, Masayuki Sekine, Junko Yotsumoto, Hiroyuki Nomura, Yoshinori Akama, Mayuko Inuzuka, Tadashi Nomizu, Takayuki Enomoto, Seigo Nakamura
The hereditary breast and ovarian cancer (HBOC) registration system of Japan was established by the Japanese HBOC Consortium. The first trial was registered in 2015 in four institutions to which some registration committee members belonged. We analyzed the information of 830 Japanese pedigrees, who underwent BRCA1/2 genetic testing, including mutation carriers with BRCA1 (N = 127) and BRCA2 (N = 115), and their families. The mutation-positive rate was 19.7%. Variants of uncertain significance were found in 6...
November 8, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29161300/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
#11
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
BACKGROUND: Germline pathogenic variants in BRCA1 and BRCA2 (BRCA) are the main cause of Hereditary Breast and Ovarian Cancer syndrome (HBOC). METHODS: In this study we evaluated the mutational profile and prevalence of BRCA pathogenic/likely pathogenic variants among probands fulfilling the NCCN HBOC testing criteria. We characterized the clinical profile of these individuals and explored the performance of international testing criteria. RESULTS: A pathogenic/likely pathogenic variant was detected in 19...
2017: PloS One
https://www.readbyqxmd.com/read/29153097/clinical-testing-with-a-panel-of-25-genes-associated-with-increased-cancer-risk-results-in-a-significant-increase-in-clinically-significant-findings-across-a-broad-range-of-cancer-histories
#12
Eric T Rosenthal, Ryan Bernhisel, Krystal Brown, John Kidd, Susan Manley
Genetic testing for inherited cancer risk is now widely used to target individuals for screening and prevention. However, there is limited evidence available to evaluate the clinical utility of various testing strategies, such as single-syndrome, single-cancer, or pan-cancer gene panels. Here we report on the outcomes of testing with a 25-gene pan-cancer panel in a consecutive series of 252,223 individuals between September 2013 and July 2016. The majority of individuals (92.8%) met testing criteria for Hereditary Breast and Ovarian Cancer (HBOC) and/or Lynch syndrome (LS)...
December 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29140831/relative-efficacies-of-hboc-201-and-polyheme-to-increase-oxygen-transport-compared-to-blood-and-crystalloids-2017-military-supplement
#13
Gregory P Dubé, Arkadiy N Pitman, Colin F Mackenzie
BACKGROUND: Because total hemoglobin in circulation ([THb]) is an established predictor of clinical outcomes in anemic individuals, the relative efficacies of resuscitation fluids to increase [THb] can be used to design better hemoglobin-based oxygen carrier (HBOC) clinical trials. METHODS: Expected efficacies of HBOC-201 (13 g Hb/dL) and packed RBCs (pRBCs, 24 g Hb/dL) to increase [THb] were calculated and interpreted in the context of SAEs in the HEM-0115 phase III clinical trial...
November 14, 2017: Shock
https://www.readbyqxmd.com/read/29124494/information-and-support-needs-of-young-women-regarding-breast-cancer-risk-and-genetic-testing-adapting-effective-interventions-for-a-novel-population
#14
Suzanne C O'Neill, Chalanda Evans, Rebekah J Hamilton, Beth N Peshkin, Claudine Isaacs, Sue Friedman, Kenneth P Tercyak
Young women from hereditary breast and ovarian cancer (HBOC) families face a unique set of challenges in managing their HBOC risk, where obtaining essential information to inform decision making is key. Previous work suggests that this need for specific health information also comes at a time of heightened distress and greater individuation from family. In this report, we describe our adaptation of a previously-studied behavioral intervention for this population, utilizing a systematic approach outlined by the Centers for Disease Control and Prevention...
November 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29112633/2017-military-supplement-current-challenges-in-the-development-of-acellular-hemoglobin-oxygen-carriers-by-protein-engineering
#15
Andres S Benitez Cardenas, Premila P Samuel, John S Olson
This article reviews the key biochemical mechanisms that govern O2 transport, NO scavenging, and oxidative degradation of acellular hemoglobin and how these ideas have been used to try to develop strategies to engineer safer and more effective hemoglobin-based oxygen carriers (HBOCs). Significant toxicities due to acellular hemoglobin (Hb) have been observed after the administration of HBOCs or after the lysis of red cells, and include: (a) rapid clearance and kidney damage due to dissociation into dimers, haptoglobin binding, and macrophage activation; (b) early O2 release leading to decreased tissue perfusion in capillary beds; (c) interference with endothelial and smooth muscle signaling due to nitric oxide (NO) scavenging; (d) autooxidization of heme iron followed by production of reactive oxygen species; and (e) iron overload symptoms due to hemin loss, globin denaturation, iron accumulation, and further inflammation...
November 6, 2017: Shock
https://www.readbyqxmd.com/read/29112106/mechanisms-of-toxicity-and-modulation-of-hemoglobin-based-oxygen-carriers-hbocs
#16
Abdu I Alayash
Several adverse events have been associated with the infusion of hemoglobin-based oxygen carriers (HBOCs) including transient hypertension, gastrointestinal, pancreatic/liver enzyme elevation, and cardiac/renal injury in humans. Although several mechanisms have been suggested, the basis of HBOC toxicity is still poorly understood. Scavenging of vascular endothelial nitric oxide (NO) and heme-mediated oxidative side reactions are thought to be the major causes of toxicity. However, based on more recent preclinical studies, oxidative pathways (driven by the heme prosthetic group) appear to play a more prominent role in the overall toxicity of free Hb or HBOCs...
November 3, 2017: Shock
https://www.readbyqxmd.com/read/29081252/glutaraldehyde-inactivation-of-enveloped-dna-viruses-in-the-preparation-of-haemoglobin-based-oxygen-carriers
#17
Huiya Ma, Qiuhui Li, Kun Feng, Yuanyuan Zhang, Hongli Zhu, Chao Chen, Kunping Yan
Glutaraldehyde (GA), used medically as a disinfectant and as a crosslinker for haemoglobin (Hb)-based oxygen carriers (HBOCs), was investigated for its ability to inactivate viruses during the preparation of these artificial blood substitutes. Porcine parvovirus (PPV; a non-enveloped DNA virus) and porcine pseudorabies virus (PRV; an enveloped DNA virus) were used as the virus indicators. Upon treatment with 0.1 mM GA, the titer of PRV decreased from 9.62 log10 to 2.62 log10 within 0.5 h, whereas that of PPV decreased from 7...
October 28, 2017: Artificial Cells, Nanomedicine, and Biotechnology
https://www.readbyqxmd.com/read/29076972/users-guide-to-pitfalls-and-lessons-learned-about-hboc-201-during-clinical-trials-expanded-access-and-clinical-use-in-1-701-patients
#18
Colin F Mackenzie, Gregory P Dubé, Arkaidy Pitman, Melissa Zafirelis
Lessons learned during 1,701 clinical uses of HBOC-201, a polymerized bovine hemoglobin-based oxygen carrier (HBOC), were identified to provide management lessons and training material for future clinical trials and use. HBOC-201 contains 13 g/dL hemoglobin (Hb), is iso-oncotic, stable at 2°C to 30°C with shelf-life of 3 years, requires no cross-matching with half-life of 19 h, and plasma volume distribution. Adverse effects include increased blood pressure, oliguria, gastrointestinal (GI) symptoms, yellow skin and scleral discoloration, decreased pulse oximetry measurements, and transient increases in methemoglobin, hepatic, and pancreatic enzymes...
October 25, 2017: Shock
https://www.readbyqxmd.com/read/29076161/use-of-the-blood-substitute-hboc-201-in-critically-ill-patients-during-sickle-crisis-a-three-case-series
#19
Jonathan M Davis, Nura El-Haj, Nimish N Shah, Garry Schwartz, Margaret Block, James Wall, Mark Tidswell, Ernest DiNino
BACKGROUND: Red blood cell (RBC) transfusion is an important treatment modality during severe sickle cell crisis (SCC). SCC patients who refuse, or cannot accept, RBCs present a unique challenge. Acellular hemoglobin (Hb)-based oxygen carriers (HBOCs) might be an alternative for critically ill patients in SCC with multiorgan failure due to life-threatening anemia. HBOC-201 (HbO2 Therapeutics) has been administered to more than 800 anemic patients in 22 clinical trials, but use of any HBOCs in critically ill sickle cell patients with organ failure is exceedingly rare...
October 26, 2017: Transfusion
https://www.readbyqxmd.com/read/29054729/hib-antibody-responses-in-infants-following-diphtheria-tetanus-acellular-pertussis-and-conjugated-haemophilus-influenzae-type-b-hib-combination-vaccines-with-decreasing-amounts-of-tetanus-toxoid
#20
Henry H Bernstein, Elisabeth R Seyferth
BACKGROUND: While combination vaccines have contributed to improved vaccine uptake rates in children, studies have documented varied immunogenicity to specific vaccine components. We studied whether varying the amount of tetanus toxoid (TT) in a DTaP and Hib combination vaccine would result in immunogenicity comparable with separate, concurrent administration. METHODS: We evaluated the immunogenicity of Massachusetts Biologic Laboratories (MBL) diphtheria, tetanus, and acellular pertussis (mDTaP) vaccine combined with tetanus-conjugated MBL Haemophilus influenzae type b vaccine (mHib) in a single injection (DTaPH)...
October 17, 2017: Vaccine
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