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https://www.readbyqxmd.com/read/28323962/men1-dependent-breast-cancer-indication-for-early-screening-results-from-the-dutch-men1-study-group
#1
Rachel S van Leeuwaarde, Koen Dreijerink, Margreet G Ausems, Hanneke J Beijers, Olaf M Dekkers, Wouter W de Herder, Anouk N van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Petra H M Peeters, Ruud M Pijnappel, Menno R Vriens, Gerlof D Valk
Objective: Multiple Endocrine Neoplasia type 1 (MEN1) is associated with an early onset elevated breast cancer risk. This finding potentially has implications for breast cancer screening for females with MEN1. Considering the impact for females with MEN1, regarding distress and anxiety, it is necessary to assess if other risk factors are involved to identify those at greatest risk. Design: A cross-sectional case control study was performed using the Dutch MEN1 cohort, including >90% of the Dutch MEN1 population of 18 years and older...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28315637/trpm4-non-selective-cation-channel-variants-in-long-qt-syndrome
#2
Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard, Patrice Bouvagnet
BACKGROUND: Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterized by prolongation of the QT interval, a risk of syncope, and sudden death. There are already a number of causal genes in LQTS, but not all LQTS patients have an identified mutation, which suggests LQTS unknown genes. METHODS: A cohort of 178 LQTS patients, with no mutations in the 3 major LQTS genes (KCNQ1, KCNH2, and SCN5A), was screened for mutations in the transient potential melastatin 4 gene (TRPM4)...
March 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28315134/reasons-for-declining-preconception-expanded-carrier-screening-using-genome-sequencing
#3
Marian J Gilmore, Jennifer Schneider, James V Davis, Tia L Kauffman, Michael C Leo, Kellene Bergen, Jacob A Reiss, Patricia Himes, Elissa Morris, Carol Young, Carmit McMullen, Benjamin S Wilfond, Katrina A B Goddard
Genomic carrier screening can identify more disease-associated variants than existing carrier screening methodologies, but its utility from patients' perspective is not yet established. A randomized controlled trial for preconception genomic carrier screening provided an opportunity to understand patients' decisions about whether to accept or decline testing. We administered a survey to potential genomic carrier screening recipients who declined participation (N = 240) to evaluate their reasons for doing so...
March 17, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28314837/risk-reducing-strategies-for-ovarian-cancer-in-brca-mutation-carriers-a-balancing-act
#4
Roi Tschernichovsky, Annekathryn Goodman
OBJECTIVE: The objective of this study was to review the role of bilateral salpingo-oophorectomy in BRCA mutation (mBRCA) carriers and alternative interventions in risk reduction of ovarian cancer (OC). MATERIALS AND METHODS: A systematic review using PubMed, MEDLINE, EMBASE, and the Cochrane library was conducted to identify studies of different strategies to prevent OC in mBRCA carriers, including bilateral salpingo-oophorectomy, prophylactic salpingectomy with delayed oophorectomy, intensive surveillance, and chemoprevention...
March 17, 2017: Oncologist
https://www.readbyqxmd.com/read/28314588/risk-of-breast-cancer-after-a-diagnosis-of-ovarian-cancer-in-brca-mutation-carriers-is-preventive-mastectomy-warranted
#5
Jacob McGee, Vasily Giannakeas, Beth Karlan, Jan Lubinski, Jacek Gronwald, Barry Rosen, John McLaughlin, Harvey Risch, Ping Sun, William D Foulkes, Susan L Neuhausen, Joanne Kotsopoulos, Steven A Narod
OBJECTIVE: Preventive breast surgery and MRI screening are offered to unaffected BRCA mutation carriers. The clinical benefit of these two modalities has not been evaluated among mutation carriers with a history of ovarian cancer. Thus, we sought to determine whether or not BRCA mutation carriers with ovarian cancer would benefit from preventive mastectomy or from MRI screening. METHODS: First, the annual mortality rate for ovarian cancer patients was estimated for a cohort of 178 BRCA mutation carriers from Ontario, Canada...
March 14, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28306397/public-views-on-genetics-and-genetic-testing-a-survey-of-the-general-public-in-belgium
#6
Davit Chokoshvili, Carmen Belmans, Roxanne Poncelet, Sofie Sanders, Deborah Vaes, Danya Vears, Sandra Janssens, Isabelle Huys, Pascal Borry
AIMS: To explore the views of the Belgian public on various topics surrounding genetics and genetic testing (GT). MATERIALS AND METHODS: A written questionnaire was administered to visitors of the annual cartoon festival in Knokke-Heist, Belgium, during the summer of 2014. The main theme of the festival was challenges and progress in human genetics and it was attended by more than 100,000 visitors. RESULTS: The survey was completed by 1182 respondents, resulting in a demographically diverse sample with a mean age of 48...
March 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28302673/pneumococcal-vaccine-response-after-exposure-to-parasites-in-utero-in-infancy-or-mid-childhood
#7
Monica Nayakwadi Singer, Claire Heath, Jackson Muinde, Virginia Gildengorin, Francis M Mutuku, David Vu, Dunstan Mukoko, Christopher L King, Indu J Malhotra, Charles H King, A Desirée LaBeaud
BACKGROUND AND OBJECTIVE: Streptococcus pneumoniae is a leading cause of mortality before age 5, but few studies examine details of childhood response to pneumococcal vaccine in less-developed settings. Although malnutrition, HIV, and concurrent infections can impair response, evidence suggests that chronic parasitic infections can also contribute to poor vaccination results. The objective of this study was to determine whether response to pneumococcal vaccine varied among children either exposed to parasitic infections in utero, previously infected in infancy, or infected at the time of immunization...
March 16, 2017: Pediatrics
https://www.readbyqxmd.com/read/28302443/growing-complexity-of-expanded-carrier-screening-direct-to-consumer-physician-mediated-and-clinic-based-offers
#8
REVIEW
Davit Chokoshvili, Danya F Vears, Pascal Borry
Since the introduction of out-of-hospital health-related genetic tests more than a decade ago, the landscape of genetic testing services has grown in complexity. Although initially most genetic tests for health purposes were offered as direct-to-consumer services, that is, without the mediation of a medical professional, currently many commercial providers require that their tests be ordered by a licensed physician. At the same time, some commercially developed health-related genetic tests are gaining support from the professional medical community and are finding their way into clinical practice...
February 16, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28299162/sero-prevalence-of-hepatitis-b-surface-antigen-amongst-pregnant-women-attending-an-antenatal-clinic-volta-region-ghana
#9
Arnold Luuse, Sylvester Dassah, Sylvester Lokpo, Louise Ameke, Mark Noagbe, Peter Adatara, Oheneba Hagan, Fred Binka
Hepatitis B virus (HBV) infection remains a global challenge, although there is currently a safe and effective vaccine available. HBV prevalence in Ghana is not well documented, but vary regionally from 4.8% to 12.3% in the general population, 10.8% to 12.7% in blood donors and about 10.6% in pregnant women. This puts Ghana among the high endemic countries in Africa. The study objective was to determine the sero-prevalence of HBs antigen (Ag) and HBeAg among pregnant women in the Ho municipality. Two hundred and eigh participants (pregnant women), attending Ho Municipal antenatal clinic were enrolled into the study...
December 31, 2016: Journal of Public Health in Africa
https://www.readbyqxmd.com/read/28294317/the-spectrum-of-brca-mutations-and-characteristics-of-brca-associated-breast-cancers-in-china-screening-of-2991-patients-and-1043-controls-by-next-generation-sequencing
#10
Guan-Tian Lang, Jin-Xiu Shi, Xin Hu, Chen-Hui Zhang, Ling Shan, Chuan-Gui Song, Zhi-Gang Zhuang, A-Yong Cao, Hong Ling, Ke-Da Yu, Li Shan, Meng-Hong Sun, Xiao-Yan Zhou, Wei Huang, Zhi-Ming Shao
To characterize the prevalence of BRCA mutations and characteristics of BRCA carriers in China and to update the clinical recommendations for BRCA testing, we conducted a wide screen for BRCA mutations using next-generation sequencing (NGS). A total of 4,034 Chinese subjects were screened for germline BRCA1/2 mutations, including 2,991 breast cancer patients and 1,043 healthy individuals from the community enrolled as controls. We developed an NGS-based approach to perform BRCA1/2 screening. BRCA mutations were identified in 9...
March 14, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28294061/the-association-of-mme-microrna-binding-site-polymorphism-with-risk-of-late-onset-alzheimer-s-disease-in-northern-han-chinese
#11
Chun-Xia Liu, Lin Tan, Fu-Rong Sun, Wei Zhang, Dan Miao, Meng-Shan Tan, Yu Wan, Chen-Chen Tan, Jin-Tai Yu, Lan Tan
Background Although amyloid β (Aβ) degradation has been normally implicated in the pathogenesis of late onset Alzheimer's disease (LOAD) through cellular biological studies, genetic studies linking Aβ degradation and LOAD are still not deeply investigated. Neprilysin (NEP), as one of the most crucial Aβ-degrading enzymes in AD, is the metalloendopeptidases which particularly participates in the monomeric Aβ species degradation. MicroRNAs (miRNAs) exert posttranscriptional dysregulation and their target sequence on the 3' untranslated regions (3'UTR) may be regulated by single nucleotide polymorphisms (SNPs)...
March 13, 2017: Current Neurovascular Research
https://www.readbyqxmd.com/read/28290290/mucus-interactions-with-liposomes-encapsulating-bioactives-interfacial-tensiometry-and-cellular-uptake-on-caco-2-and-cocultures-of-caco-2-ht29-mtx
#12
Yang Li, Elena Arranz, Anilda Guri, Milena Corredig
Structuring of delivery matrices in foods aquires careful designing for optimal delivery and subsiquent absorption of the beneficial compounds in the gut. There has been quite improvement in mimicking digestion and absorption in vitro but as of yet little is understood on mucus interference in nutrient absorption Therefore in this study interactions of human intestinal mucus with milk and soy phospholipids liposomes carring hydrophilic (epigallocatechin-3-gallate) or hydrophobic (β-carotene) bioactive molecules were investigated...
February 2017: Food Research International
https://www.readbyqxmd.com/read/28289761/a-new-biochromatography-model-based-on-dna-origami-assembled-ppar%C3%AE-construction-and-evaluation
#13
Jie Zhou, Lingchang Meng, Chong Sun, Shanshan Chen, Fang Sun, Pei Luo, Yongxing Zhao
As drug targets, receptors have potential to screen drugs. Silica is an attractive support to immobilize receptors; however, the lack of biocompatibility makes it easier for receptors to lose bioactivity, which remains an obstacle to its widespread use. With the advantage of biocompatibility, DNA origami can be used as a biological carrier to improve the biocompatibility of silica and assemble receptors. In this study, a new biochromatography model based on DNA origami was constructed. A large quantity of M13ssDNA was used as a scaffold, leading to significant costs, so M13ssDNA was self-produced from the bacteriophage particles...
March 13, 2017: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/28286745/outcomes-of-an-international-workshop-on-preconception-expanded-carrier-screening-some-considerations-for-governments
#14
Caron M Molster, Karla Lister, Selina Metternick-Jones, Gareth Baynam, Angus John Clarke, Volker Straub, Hugh J S Dawkins, Nigel Laing
BACKGROUND: Consideration of expanded carrier screening has become an emerging issue for governments. However, traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screening. Further, there is a lack of consistent guidance in the literature regarding the development of appropriate criteria for government assessment of expanded carrier screening. Given this, a workshop was held to identify key public policy issues related to preconception expanded carrier screening, which governments should consider when deciding whether to publicly fund such programs...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28286504/molluskan-hemocyanins-activate-the-classical-pathway-of-the-human-complement-system-through-natural-antibodies
#15
Javier Pizarro-Bauerle, Ismael Maldonado, Eduardo Sosoniuk-Roche, Gerardo Vallejos, Mercedes N López, Flavio Salazar-Onfray, Lorena Aguilar-Guzmán, Carolina Valck, Arturo Ferreira, María Inés Becker
Molluskan hemocyanins are enormous oxygen-carrier glycoproteins that show remarkable immunostimulatory properties when inoculated in mammals, such as the generation of high levels of antibodies, a strong cellular reaction, and generation of non-specific antitumor immune responses in some types of cancer, particularly for superficial bladder cancer. These proteins have the ability to bias the immune response toward a Th1 phenotype. However, despite all their current uses with beneficial clinical outcomes, a clear mechanism explaining these properties is not available...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28284103/a-vegf-delivery-system-targeting-mi-improves-angiogenesis-and-cardiac-function-based-on-the-tropism-of-mscs-and-layer-by-layer-self-assembly
#16
Ge Liu, Li Li, Da Huo, Yanzhao Li, Yangxiao Wu, Lingqing Zeng, Panke Cheng, Malcolm Xing, Wen Zeng, Chuhong Zhu
Myocardial infarction (MI) is a serious ischemic condition affecting many individuals around the world. Vascular endothelial growth factor (VEGF) is considered a promising factor for enhancing cardiac function by promoting angiogenesis. However, the lack of a suitable method of VEGF delivery to the MI area is a serious challenge. In this study, we screened a suitable delivery carrier with favorable biocompatibility that targeted the MI area using the strategy of an inherent structure derived from the body and that was based on characteristics of the MI...
March 2, 2017: Biomaterials
https://www.readbyqxmd.com/read/28283020/carbapenem-resistant-klebsiella-pneumoniae-in-high-risk-haematological-patients-factors-favouring-spread-risk-factors-and-outcome-of-carbapenem-resistant-klebsiella-pneumoniae-bacteremias
#17
Alessandra Micozzi, Giuseppe Gentile, Clara Minotti, Claudio Cartoni, Saveria Capria, Daniele Ballarò, Stefania Santilli, Emanuele Pacetti, Sara Grammatico, Giampaolo Bucaneve, Robin Foà
BACKGROUND: Carbapenem-resistant Klebsiella pneumoniae (CRKP) spread and infections in patients with haematological malignancies are a serious concern especially in endemic areas. Treatment failures and delay in appropriate therapy for CRKP infections are frequent and the mortality rate associated with CRKP bacteremia in neutropenic haematological patients is reported about 60%. METHODS: Haematological patients harboring CRKP hospitalized between February 2012 and May 2013 in an Italian Teaching hospital were examined...
March 10, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28282200/anomalous-screening-of-quantum-impurities-by-a-neutral-environment
#18
E Yakaboylu, M Lemeshko
It is a common knowledge that an effective interaction of a quantum impurity with an electromagnetic field can be screened by surrounding charge carriers, whether mobile or static. Here we demonstrate that very strong, "anomalous" screening can take place in the presence of a neutral, weakly polarizable environment, due to an exchange of orbital angular momentum between the impurity and the bath. Furthermore, we show that it is possible to generalize all phenomena related to isolated impurities in an external field to the case when a many-body environment is present, by casting the problem in terms of the angulon quasiparticle...
February 24, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28280001/a-rapid-and-effective-method-for-screening-sequencing-and-reporter-verification-of-engineered-frameshift-mutations-in-zebrafish
#19
Sergey V Prykhozhij, Shelby L Steele, Babak Razaghi, Jason N Berman
Clustered Regularly Interspaced Palindromic Repeats (CRISPR)/Cas9 adaptive immunity against pathogens in bacteria has been adapted for genome editing and applied in zebrafish (Danio rerio) to generate frameshift mutations in protein-coding genes. Although there are methods to detect, quantify and sequence CRISPR/Cas9-induced mutations, identifying mutations in F1 heterozygous fish remains challenging. Additionally, sequencing a mutation and assuming that it causes a frameshift does not prove causality because of possible alternative translation start sites and potential effects of mutations on splicing...
March 9, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28276872/a-comprehensive-screening-program-for-%C3%AE-thalassemia-and-other-hemoglobinopathies-in-the-hooghly-district-of-west-bengal-india-dealing-with-21%C3%A2-137-cases
#20
Kallol Kumar Bhattacharyya, Tridip Chatterjee, Ujjalendu Bikash Mondal
We here present a report of population screening programs (January 2012-December 2015) conducted by the Thalassemia Control Unit, Imambara Sadar Hospital, Chinsurah, Hooghly in the Hooghly District of West Bengal, India for prevention of thalassemia. We screened β-thalassemia (β-thal) heterozygotes and homozygotes, and Hb E (HBB: c.79G > A)-β-thal compound heterozygotes. Among 21 137 cases, we found 1968 heterozygotes and 192 homozygotes or compound heterozygotes. Results were evaluated with standard hematological analyses including red cell indices, hemoglobin (Hb) typing and quantification...
March 3, 2017: Hemoglobin
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