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https://www.readbyqxmd.com/read/28339459/functional-classification-of-dna-variants-by-hybrid-minigenes-identification-of-30-spliceogenic-variants-of-brca2-exons-17-and-18
#1
Eugenia Fraile-Bethencourt, Beatriz Díez-Gómez, Valeria Velásquez-Zapata, Alberto Acedo, David J Sanz, Eladio A Velasco
Mutation screening of the breast cancer genes BRCA1 and BRCA2 identifies a large fraction of variants of uncertain clinical significance (VUS) whose functional and clinical interpretations pose a challenge for genomic medicine. Likewise, an increasing amount of evidence indicates that genetic variants can have deleterious effects on pre-mRNA splicing. Our goal was to investigate the impact on splicing of a set of reported variants of BRCA2 exons 17 and 18 to assess their role in hereditary breast cancer and to identify critical regulatory elements that may constitute hotspots for spliceogenic variants...
March 24, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28337931/utilizing-nutritional-genomics-to-tailor-diets-for-the-prevention-of-cardiovascular-disease-a-guide-for-upcoming-studies-and-implementations
#2
Dolores Corella, Oscar Coltell, George Mattingley, José V Sorlí, Jose M Ordovas
Personalized diets based on an individual's genome to optimize the success of dietary intervention and reduce genetic cardiovascular disease (CVD) risk, is one of the challenges most frequently discussed in the scientific community. Areas covered: The authors gathered literature-based evidence on nutritional genomics and CVD phenotypes, our own results and research experience to provide a critical overview of the current situation of using nutritional genomics to tailor diets for CVD prevention and to propose guidelines for future studies and implementations...
March 24, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28337568/hospital-microbial-surface-colonization-revealed-during-monitoring-of-klebsiella-spp-pseudomonas-aeruginosa-and-non-tuberculous-mycobacteria
#3
Pedro Geadas Farias, Fernando Gama, Diogo Reis, Susana Alarico, Nuno Empadinhas, José Carlos Martins, Ana Figueiredo de Almeida, Paula Vasconcelos Morais
Hospital environmental conditions, human occupancy, and the characteristics of the equipment influence the survival of microbial communities and raise a concern with regard to nosocomial infections. The objective of the present work was to use the monitoring of Pseudomonas aeruginosa, Klebsiella spp. and non-tuberculous mycobacteria as a strategy to improve knowledge on microbial colonization of non-critical equipment and surfaces, in a tertiary hospital from Central Portugal. A 3-month microbiological survey was performed in a district teaching hospital...
March 23, 2017: Antonie Van Leeuwenhoek
https://www.readbyqxmd.com/read/28337071/international-standards-for-genomes-transcriptomes-and-metagenomes
#4
Christopher E Mason, Ebrahim Afshinnekoo, Scott Tighe, Shixiu Wu, Shawn Levy
Challenges and biases in preparing, characterizing, and sequencing DNA and RNA can have significant impacts on research in genomics across all kingdoms of life, including experiments in single-cells, RNA profiling, and metagenomics (across multiple genomes). Technical artifacts and contamination can arise at each point of sample manipulation, extraction, sequencing, and analysis. Thus, the measurement and benchmarking of these potential sources of error are of paramount importance as next-generation sequencing (NGS) projects become more global and ubiquitous...
March 17, 2017: Journal of Biomolecular Techniques: JBT
https://www.readbyqxmd.com/read/28337041/getting-the-foundations-right-for-the-measurement-of-medication-safety-the-need-for-a-meaningful-conceptual-frame
#5
Jerome Ng, Shane Scahill, Jeff Harrison
A number of initiatives aimed at improving medication safety in and across New Zealand public hospitals have been introduced over recent years. Clinicians, policymakers and patients now want to know whether patients are safer today from medicine use than they have been in the past. The challenge has been determining exactly what should be measured. In this viewpoint, we critically examine the suitability of adverse drug events (ADE) as a primary metric for assessing the progress of medication safety improvement...
March 24, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28336949/induction-of-apoptosis-and-ganoderic-acid-biosynthesis-by-camp-signaling-in-ganoderma-lucidum
#6
Bang-Jau You, Ni Tien, Miin-Huey Lee, Bo-Ying Bao, Yih-Shyuan Wu, Tsung-Chi Hu, Hong-Zin Lee
Apoptosis is an essential physiological process that controls many important biological functions. However, apoptosis signaling in relation to secondary metabolite biosynthesis in plants and fungi remains a mystery. The fungus Ganoderma lucidum is a popular herbal medicine worldwide, but the biosynthetic regulation of its active ingredients (ganoderic acids, GAs) is poorly understood. We investigated the role of 3',5'-cyclic adenosine monophosphate (cAMP) signaling in fungal apoptosis and GA biosynthesis in G...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28336879/in-vitro-and-in-vivo-evaluation-of-a-three-dimensional-porous-multi-walled-carbon-nanotube-scaffold-for-bone-regeneration
#7
Manabu Tanaka, Yoshinori Sato, Mei Zhang, Hisao Haniu, Masanori Okamoto, Kaoru Aoki, Takashi Takizawa, Kazushige Yoshida, Atsushi Sobajima, Takayuki Kamanaka, Hiroyuki Kato, Naoto Saito
Carbon nanotubes (CNTs) have attracted a great deal of attention for the biological and medical science fields because of their characteristic physical and biological properties. In this study, we investigated the capacity of the 3D porous CNT scaffold (CNT porous block; CNTp) for bone regenerative medicine. Surface observations using a scanning electron microscope (SEM), crystal depositions on the surface of CNTps immersed in simulated body fluid (SBF), and evaluations of protein adsorption and controlled releasing were conducted to assess physical properties...
February 17, 2017: Nanomaterials
https://www.readbyqxmd.com/read/28336016/review-of-issues-and-challenges-of-practicing-emergency-medicine-above-30-000-feet-altitude-2-anonymized-cases
#8
Kam Lun Hon, Karen Ka Yan Leung
We present 2 anonymized cases to identify issues and challenges associated with long-haul in-flight medical emergencies. The first case involved a middle-aged man with a history of carditis on a systemic steroid who developed vomiting and rigor. Four physicians, including a pediatric intensivist, responded to the emergency call. In the second case, a pediatric trainee who was the only onboard medical personnel was summoned for help when a middle-aged man developed acute shortness of breath while traveling on a commercial flight...
March 2017: Air Medical Journal
https://www.readbyqxmd.com/read/28335766/barriers-to-the-conduct-and-application-of-research-in-complementary-and-alternative-medicine-a-systematic-review
#9
Yasamin Veziari, Matthew J Leach, Saravana Kumar
BACKGROUND: The popularity of Complementary and alternative medicine (CAM) has grown considerably over the past few decades. This has been accompanied by increasing public pressure for CAM to be evidence-based. Notwithstanding, the conduct and application of research in CAM faces a number of obstacles. No systematic review has mapped these barriers to date. Therefore, this systematic literature review aimed to explore, identify and map the barriers to the conduct and application of research in CAM...
March 23, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28335438/the-food-production-environment-and-the-development-of-antimicrobial-resistance-in-human-pathogens-of-animal-origin
#10
REVIEW
Manjusha Lekshmi, Parvathi Ammini, Sanath Kumar, Manuel F Varela
Food-borne pathogens are a serious human health concern worldwide, and the emergence of antibiotic-resistant food pathogens has further confounded this problem. Once-highly-efficacious antibiotics are gradually becoming ineffective against many important pathogens, resulting in severe treatment crises. Among several reasons for the development and spread of antimicrobial resistance, their overuse in animal food production systems for purposes other than treatment of infections is prominent. Many pathogens of animals are zoonotic, and therefore any development of resistance in pathogens associated with food animals can spread to humans through the food chain...
March 14, 2017: Microorganisms
https://www.readbyqxmd.com/read/28334334/p53-and-its-mutants-on-the-slippery-road-from-stemness-to-carcinogenesis
#11
Alina Molchadsky, Varda Rotter
Normal development, tissue homeostasis and regeneration following injury rely on the proper functions of wide repertoire of stem cells (SCs) persisting during embryonic period and throughout the adult life. Therefore, SCs employ robust mechanisms to preserve their genomic integrity and avoid heritage of mutations to their daughter cells. Importantly, propagation of SCs with faulty DNA as well as dedifferentiation of genomically altered somatic cells may result in derivation of cancer SCs, which are considered to be the driving force of the tumorigenic process...
March 15, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28334154/ethical-issues-of-crispr-technology-and-gene-editing-through-the-lens-of-solidarity
#12
John J Mulvihill, Benjamin Capps, Yann Joly, Tamra Lysaght, Hub A E Zwart, Ruth Chadwick
Background: The avalanche of commentaries on CRISPR-Cas9 technology, a bacterial immune system modified to recognize any short DNA sequence, cut it out, and insert a new one, has rekindled hopes for gene therapy and other applications and raised criticisms of engineering genes in future generations. Sources of data: This discussion draws on articles that emphasize ethics, identified partly through PubMed and Google, 2014-2016. Areas of agreement: CRISPR-Cas9 has taken the pace and prospects for genetic discovery and applications to a high level, stoking anticipation for somatic gene engineering to help patients...
February 23, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28333820/committee-opinion-no-692-emergent-therapy-for-acute-onset-severe-hypertension-during-pregnancy-and-the-postpartum-period
#13
(no author information available yet)
Acute-onset, severe systolic hypertension; severe diastolic hypertension; or both can occur during the prenatal, intrapartum, or postpartum periods. Pregnant women or women in the postpartum period with acute-onset, severe systolic hypertension; severe diastolic hypertension; or both require urgent antihypertensive therapy. Introducing standardized, evidence-based clinical guidelines for the management of patients with preeclampsia and eclampsia has been demonstrated to reduce the incidence of adverse maternal outcomes...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28333812/committee-opinion-no-692-summary-emergent-therapy-for-acute-onset-severe-hypertension-during-pregnancy-and-the-postpartum-period
#14
(no author information available yet)
Acute-onset, severe systolic hypertension; severe diastolic hypertension; or both can occur during the prenatal, intrapartum, or postpartum periods. Pregnant women or women in the postpartum period with acute-onset, severe systolic hypertension; severe diastolic hypertension; or both require urgent antihypertensive therapy. Introducing standardized, evidence-based clinical guidelines for the management of patients with preeclampsia and eclampsia has been demonstrated to reduce the incidence of adverse maternal outcomes...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28332883/precision-medicine-an-update-on-genotype-biochemical-phenotype-relationships-in-pheochromocytoma-paraganglioma-patients
#15
Garima Gupta, Karel Pacak
Pheochromocytomas and paragangliomas are rare neuroendocrine tumors known to produce and secrete high levels of circulating catecholamines and their metabolites. The biochemical characteristics of these tumors can be used to divide them into three major phenotypes. The adrenergic phenotype comprises of tumors with predominant elevations in epinephrine and metanephrine levels whereas the noradrenergic phenotype is composed of tumors with predominant elevations in norepinephrine and normetanephrine levels. The dopaminergic phenotype is a third rare group composed of tumors mainly secreting dopamine and 3-methoxytyramine...
March 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28331624/comparison-of-hydroxyethyl-starch-regulatory-summaries-from-the-food-and-drug-administration-and-the-european-medicines-agency
#16
Christian J Wiedermann, Klaus Eisendle
This article aims to highlight the positions of the Food and Drug Administration and the European Medicines Agency regarding use and marketing of hydroxyethyl starch (HES) products, and how these have changed over recent years. In 2013, warnings from both agencies advised against use of HES in critically ill patients, including patients with sepsis, when several large randomized controlled trials on volume resuscitation in critical illness failed to observe clinically beneficial effects of HES. In areas such as patient monitoring and requirements for further clinical trials, the FDA and EMA are very much in agreement in their recommendations...
2017: Journal of Pharmaceutical Policy and Practice
https://www.readbyqxmd.com/read/28330486/relationships-between-structure-process-and-outcome-to-assess-quality-of-integrated-chronic-disease-management-in-a-rural-south-african-setting-applying-a-structural-equation-model
#17
Soter Ameh, Francesc Xavier Gómez-Olivé, Kathleen Kahn, Stephen M Tollman, Kerstin Klipstein-Grobusch
BACKGROUND: South Africa faces a complex dual burden of chronic communicable and non-communicable diseases (NCDs). In response, the Integrated Chronic Disease Management (ICDM) model was initiated in primary health care (PHC) facilities in 2011 to leverage the HIV/ART programme to scale-up services for NCDs, achieve optimal patient health outcomes and improve the quality of medical care. However, little is known about the quality of care in the ICDM model. The objectives of this study were to: i) assess patients' and operational managers' satisfaction with the dimensions of ICDM services; and ii) evaluate the quality of care in the ICDM model using Avedis Donabedian's theory of relationships between structure (resources), process (clinical activities) and outcome (desired result of healthcare) constructs as a measure of quality of care...
March 23, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28330463/global-transcriptome-analysis-of-huperzia-serrata-and-identification-of-critical-genes-involved-in-the-biosynthesis-of-huperzine-a
#18
Mengquan Yang, Wenjing You, Shiwen Wu, Zhen Fan, Baofu Xu, Mulan Zhu, Xuan Li, Youli Xiao
BACKGROUND: Huperzia serrata (H. serrata) is an economically important traditional Chinese herb with the notably medicinal value. As a representative member of the Lycopodiaceae family, the H. serrata produces various types of effectively bioactive lycopodium alkaloids, especially the huperzine A (HupA) which is a promising drug for Alzheimer's disease. Despite their medicinal importance, the public genomic and transcriptomic resources are very limited and the biosynthesis of HupA is largely unknown...
March 22, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28330460/sepsis-recognition-in-the-emergency-department-impact-on-quality-of-care-and-outcome
#19
Marius Morr, Alexander Lukasz, Eva Rübig, Hermann Pavenstädt, Philipp Kümpers
BACKGROUND: Appropriate and timely recognition of sepsis is a prerequisite for starting goal-directed therapy bundles. We analyzed the appropriateness of sepsis recognition and documentation with regard to adequacy of therapy and outcome in an internal medicine emergency department (ED). METHODS: This study included 487 consecutive patients ≥18 years of age who presented to a university hospital ED during a 4-week period. Clinical, laboratory, and follow-up data were acquired independently from documentation by ED physicians...
March 23, 2017: BMC Emergency Medicine
https://www.readbyqxmd.com/read/28329355/international-recommendations-for-electrocardiographic-interpretation-in-athletes
#20
Sanjay Sharma, Jonathan A Drezner, Aaron Baggish, Michael Papadakis, Mathew G Wilson, Jordan M Prutkin, Andre La Gerche, Michael J Ackerman, Mats Borjesson, Jack C Salerno, Irfan M Asif, David S Owens, Eugene H Chung, Michael S Emery, Victor F Froelicher, Hein Heidbuchel, Carmen Adamuz, Chad A Asplund, Gordon Cohen, Kimberly G Harmon, Joseph C Marek, Silvana Molossi, Josef Niebauer, Hank F Pelto, Marco V Perez, Nathan R Riding, Tess Saarel, Christian M Schmied, David M Shipon, Ricardo Stein, Victoria L Vetter, Antonio Pelliccia, Domenico Corrado
Sudden cardiac death (SCD) is the leading cause of mortality in athletes during sport. A variety of mostly hereditary, structural, or electrical cardiac disorders are associated with SCD in young athletes, the majority of which can be identified or suggested by abnormalities on a resting 12-lead electrocardiogram (ECG). Whether used for diagnostic or screening purposes, physicians responsible for the cardiovascular care of athletes should be knowledgeable and competent in ECG interpretation in athletes. However, in most countries a shortage of physician expertise limits wider application of the ECG in the care of the athlete...
February 20, 2017: European Heart Journal
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