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Fabrice Kwiatkowski, Pascal Dessenne, Claire Laquet, Jean-Pierre Daures, Mathilde Gay-Bellile, Yves-Jean Bignon
BACKGROUND: Young women exposed to a high hereditary breast and ovarian cancer (HBOC) risk are particularly vulnerable. They are ignored by health prevention measures but exposed to a stream of contradictory information (medicine, media, Internet). They may feel concerned about surgical prevention issues at a key moment of their identity construction (self, relationship, sexuality). We designed a special psychoeducational intervention to help these women cope better with these difficulties...
October 21, 2016: Trials
Rowan Forbes Shepherd, Tamara Kayali Browne, Linda Warwick
Ethical issues arise for genetic counselors when a client fails to disclose a genetic diagnosis of hereditary disease to family: they must consider the rights of the individual client to privacy and confidentiality as well as the rights of the family to know their genetic risk. Although considerable work has addressed issues of non-disclosure from the client's perspective, there is a lack of qualitative research into how genetic counselors address this issue in practice. In this study, a qualitative approach was taken to investigate whether genetic counselors in Australia use a relational approach to encourage the disclosure of genetic information from hereditary breast and ovarian cancer (HBOC) clients among family members; and if so, how they use it...
October 19, 2016: Journal of Genetic Counseling
Gabriela C Fernandes, Rodrigo Ad Michelli, Henrique Cr Galvão, André E Paula, Rui Pereira, Carlos E Andrade, Paula S Felicio, Cristiano P Souza, Deise Rp Mendes, Sahlua Volc, Gustavo N Berardinelli, Rebeca S Grasel, Cristina S Sabato, Danilo V Viana, Edmundo C Mauad, Cristovam Scapulatempo-Neto, Banu Arun, Rui M Reis, Edenir I Palmero
BACKGROUND: There are very few data about the mutational profile of families at-risk for hereditary breast and ovarian cancer (HBOC) from Latin America (LA) and especially from Brazil, the largest and most populated country in LA. RESULTS: Of the 349 probands analyzed, 21.5% were BRCA1/BRCA2 mutated, 65.3% at BRCA1 and 34.7% at BRCA2 gene. The mutation c.5266dupC (former 5382insC) was the most frequent alteration, representing 36.7% of the BRCA1 mutations and 24...
October 12, 2016: Oncotarget
Qingshu Wang, Ling Hu, Yu Hu, Gu Gong, Hua Tan, Li Deng, Xiaoqin Sun, Xiaobo Yi, Yangyang Sun, Wei Wu, Tao Li
OBJECTIVE: To investigate the therapeutic effect of carbon monoxide (CO) on high-altitude hypoxia-induced cardiac damage. METHODS: Forty male C57BL/6 mice were randomly divided into 4 groups. The mice were exposed to normoxia or simulated 5,500-meter high-altitude hypoxia in a hypobaric chamber for 7 days. During the first 3 days, the mice were pretreated with CO-saturated hemoglobin (Hb)-based oxygen carrier (CO-HBOC), oxygen-saturated hemoglobin-based oxygen carrier (O2-HBOC) at a dose of 0...
October 12, 2016: Cardiology
Serena Singh, Ina S Dubinsky-Davidchik, Ronald Kluger
Conventional chemical approaches to protein-protein coupling present challenges due to the intrinsic competition between the desired interactions of reagents with groups of the protein as well as reactions with water. Biorthogonal Cu(i)-catalyzed azide-alkyne cycloaddition (CuAAC)-processes provide a basis to direct reactivity without functional group interference. However, the requirement for Cu(i) in CuAAC leads to complications that result from the metal ion's interactions with the protein. In principle, a similar but metal-free alternative approach to coupling could employ the reaction of an alkyne that is strained in combination with an azide (strain-promoted azide-alkyne cycloaddition, SPAAC)...
October 5, 2016: Organic & Biomolecular Chemistry
Ying Wang, Linli Wang, Weili Yu, Dawei Gao, Guoxing You, Penglong Li, Shan Zhang, Jun Zhang, Tao Hu, Lian Zhao, Hong Zhou
Hemoglobin (Hb)-based oxygen carriers (HBOCs) have been used as blood substitutes in surgery medicine and oxygen therapeutics for ischemic stroke. As a potent HBOC, the PEGylated Hb has received much attention for its oxygen delivery and plasma expanding ability. Two PEGylated Hbs, Euro-Hb and MP4 have been developed for clinical trials, using human adult hemoglobin (HbA) as the original substrate. However, HbA was obtained from outdated human blood and its quantity available from this source may not be sufficient for mass production of PEGylated HbA...
October 3, 2016: Biotechnology Progress
Joseph A Posluszny, Lena M Napolitano
INTRODUCTION: Treatment of severe hemorrhagic shock due to acute blood loss from traumatic injuries in a Jehovah's witness (JW) trauma patient is very challenging since hemostatic blood product resuscitation is limited by refusal of the transfusion of allogeneic blood products. CASE PRESENTATION: We describe a multifaceted approach to the clinical care of a severely anemic JW trauma patient including the early administration of a bovine hemoglobin-based oxygen carrier (HBOC) as a bridge to resolution of critical anemia (nadir hemoglobin 3...
June 2016: Archives of Trauma Research
Anne Oberguggenberger, Monika Sztankay, Raphael Johannes Morscher, Barbara Sperner-Unterweger, Ingrid Weber, Michael Hubalek, Georg Kemmler, Johannes Zschocke, Caroline Martini, Daniel Egle, Martina Dünser, Eva Gamper, Verena Meraner
OBJECTIVE: We investigated the psychosocial consequences of genetic counseling and testing (GCT) for hereditary breast and ovarian cancer (HBOC) at follow-up in a "real-life" sample of counselees at an Austrian tertiary care center. METHODS: The study cohort included counselees who had undergone genetic counseling for HBOC and completed a follow-up self-report questionnaire battery on psychosocial outcomes (quality of life, psychological distress, satisfaction with counseling and decisions)...
October 2016: Journal of Psychosomatic Research
Mervyn Mer, Eric Hodgson, Lee Wallis, Barry Jacobson, Lewis Levien, Jacques Snyman, Martin J Sussman, Mike James, Antoine van Gelder, Rachel Allgaier, Jonathan S Jahr
Hemopure (hemoglobin glutamer-250 [bovine]; HBOC-201) is a hemoglobin (Hb)-based oxygen carrier registered with the Medicines Control Council of South Africa. It is indicated for the treatment of adult patients who are acutely anemic, for the purpose of maintaining tissue oxygen delivery thus eliminating, delaying, or reducing the need for allogeneic red blood cells (RBCs). Hemopure is a volume expander, and circulatory volume must be carefully monitored for signs of fluid overload. Hemopure is not as effective as RBCs for restoring Hb content and concentration, but in cases of severe anemia where allogeneic blood is not an option or is unavailable, it may offer an immediate alternative for improving oxygen transport...
October 2016: Transfusion
Michael Brad Strader, Abdu I Alayash
SIGNIFICANCE: Worldwide demand has driven the development of hemoglobin (Hb)-based oxygen carriers (HBOCs) as potential acellular oxygen therapeutics. HBOCs have the potential to provide an oxygen bridge to patients and minimize current problems associated with supply and storage of donated blood. However, to date, safety and efficacy issues have hampered the approval of viable HBOCs in the United States. These previous efforts have underscored the need for a better molecular understanding of toxicity in order to design safe and oxidatively stable HBOCs...
September 14, 2016: Antioxidants & Redox Signaling
Karl Hackmann, Franziska Kuhlee, Elitza Betcheva-Krajcir, Anne-Karin Kahlert, Luisa Mackenroth, Barbara Klink, Nataliya Di Donato, Andreas Tzschach, Karin Kast, Pauline Wimberger, Evelin Schrock, Andreas Rump
PURPOSE: Detection of predisposing copy number variants (CNV) in 330 families affected with hereditary breast and ovarian cancer (HBOC). METHODS: In order to complement mutation detection with Illumina's TruSight Cancer panel, we designed a customized high-resolution 8 × 60k array for CGH (aCGH) that covers all 94 genes from the panel. RESULTS: Copy number variants with immediate clinical relevance were detected in 12 families (3.6%). Besides 3 known CNVs in CHEK2, RAD51C, and BRCA1, we identified 3 novel pathogenic CNVs in BRCA1 (deletion of exons 4-13, deletion of exons 12-18) and ATM (deletion exons 57-63) plus an intragenic duplication of BRCA2 (exons 3-11) and an intronic BRCA1 variant with unknown pathogenicity...
October 2016: Breast Cancer Research and Treatment
Pedro Pinto, Paula Paulo, Catarina Santos, Patrícia Rocha, Carla Pinto, Isabel Veiga, Manuela Pinheiro, Ana Peixoto, Manuel R Teixeira
Molecular diagnosis of hereditary breast and ovarian cancer (HBOC) by standard methodologies has been limited to the BRCA1 and BRCA2 genes. With the recent development of new sequencing methodologies, the speed and efficiency of DNA testing have dramatically improved. The aim of this work was to validate the use of next-generation sequencing (NGS) for the detection of BRCA1/BRCA2 point mutations in a diagnostic setting and to study the role of other genes associated with HBOC in Portuguese families. A cohort of 94 high-risk families was included in the study, and they were initially screened for the two common founder mutations with variant-specific methods...
September 2016: Breast Cancer Research and Treatment
Yoko Katsuki, Minoru Takata
Hereditary breast and ovarian cancer (HBOC) syndrome and a rare childhood disorder Fanconi anemia (FA) are caused by homologous recombination (HR) defects, and some of the causative genes overlap. Recent studies in this field have led to the exciting development of PARP inhibitors as novel cancer therapeutics and have clarified important mechanisms underlying genome instability and tumor suppression in HR-defective disorders. In this review, we provide an overview of the basic molecular mechanisms governing HR and DNA crosslink repair, highlighting BRCA2, and the intriguing relationship between HBOC and FA...
October 2016: Endocrine-related Cancer
Deborah Cragun, Courtney Scherr, Lucia Camperlengo, Susan T Vadaparampil, Tuya Pal
AIMS: We describe practitioner knowledge and practices related to hereditary breast and ovarian cancer (HBOC) in an evolving landscape of genetic testing. METHODS: A survey was mailed in late 2013 to Florida providers who order HBOC testing. Descriptive statistics were conducted to characterize participants' responses. RESULTS: Of 101 respondents, 66% indicated either no genetics education or education through a commercial laboratory. Although 79% of respondents were aware of the Supreme Court ruling resulting in the loss of Myriad Genetics' BRCA gene patent, only 19% had ordered testing from a different laboratory...
October 2016: Genetic Testing and Molecular Biomarkers
Finn Cilius Nielsen, Thomas van Overeem Hansen, Claus Storgaard Sørensen
Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making...
September 2016: Nature Reviews. Cancer
Otgonchimeg Rentsendorj, Xiaoyuan Zhang, Matthew C Williams, Paul W Buehler, Felice D'Agnillo
Hemoglobin-based oxygen carriers (HBOCs) are being developed as oxygen and plasma volume-expanding therapeutics though their potential to promote oxidative tissue injury has raised safety concerns. Using a guinea pig exchange transfusion model, we examined the effects of polymerized bovine hemoglobin (HbG) on the transcriptional regulation, activity, and expression of the renal antioxidant enzymes; superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPx). HbG infusion downregulated the mRNA levels for genes encoding SOD isoforms 1-3, GPx1, GPx3, GPx4, and CAT...
2016: Toxics
Gary G A Silkstone, Rebecca S Silkstone, Michael T Wilson, Michelle Simons, Leif Bülow, Kristian Kallberg, Khuanpiroon Ratanasopa, Luca Ronda, Andrea Mozzarelli, Brandon J Reeder, Chris E Cooper
Hemoglobin (Hb)-based oxygen carriers (HBOC) have been engineered to replace or augment the oxygen-carrying capacity of erythrocytes. However, clinical results have generally been disappointing due to adverse side effects linked to intrinsic heme-mediated oxidative toxicity and nitric oxide (NO) scavenging. Redox-active tyrosine residues can facilitate electron transfer between endogenous antioxidants and oxidative ferryl heme species. A suitable residue is present in the α-subunit (Y42) of Hb, but absent from the homologous position in the β-subunit (F41)...
October 1, 2016: Biochemical Journal
Bárbara Alemar, Josef Herzog, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalás, Ida Vanessa D Schwartz, Camila Matzenbacher Bittar, Patricia Ashton-Prolla, Jeffrey N Weitzel
Germline mutations in BRCA1 or BRCA2 (BRCA) are responsible for 5-15% of breast (BC) and ovarian cancers (OC), predisposing to the development of early onset and often multiple primary tumors. Since mutation carriers can benefit from risk-reducing interventions, the identification of individuals with hereditary breast and ovarian cancer (HBOC) syndrome has a significant clinical impact. We assessed whether a panel assay for recurrent Hispanic BRCA mutations (HISPANEL) has an adequate breadth of coverage to be suitable as a cost effective screening tool for HBOC in a cohort of patients from Southern Brazil...
June 20, 2016: Cancer Genetics
Chalanda Evans, Rebekah J Hamilton, Kenneth P Tercyak, Beth N Peshkin, Kantoniony Rabemananjara, Claudine Isaacs, Suzanne C O'Neill
Young women from hereditary breast and ovarian cancer (HBOC) families face a series of medical decisions regarding their cancer risk management and integrating this information into their life planning. This presents unique medical and psychosocial challenges that exist without comprehensive intervention. To help lay the groundwork for intervention, we conducted a qualitative study among young women from HBOC families (N = 12; Mean age = 22) and cancer genetic counselors (N = 12) to explicate domains most critical to caring for this population...
2016: Healthcare (Basel, Switzerland)
Angela M Trepanier, Laura Supplee, Lindsey Blakely, Jenna McLosky, Debra Duquette
The Michigan Department of Health and Human Services implemented and evaluated two initiatives designed to enhance provider knowledge of patients appropriate for breast and/or ovarian cancer genetic risk assessment and hereditary breast and ovarian cancer (HBOC) syndrome testing. The first initiative targeted select providers who had diagnosed patients meeting HBOC risk criteria. Specifically, the initiative used 2008-2009 state cancer registry data to identify all providers who had diagnosed breast cancers in women ≤50 years of age, male breast cancers, and ovarian cancers in four health systems with newly established cancer genetics clinics...
2016: Healthcare (Basel, Switzerland)
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