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https://www.readbyqxmd.com/read/28641396/geneticization-in-mim-omim%C3%A2-exploring-historic-and-epistemic-drivers-of-contemporary-understandings-of-genetic-disease
#1
Rachel A Ankeny
Prior to the genomic sequencing era, the bible for those working in clinical genetics was McKusick's Mendelian Inheritance in Man (MIM), which appeared in multiple editions between the 1960s and the late 1990s. This catalogue was organized according to general patterns of inheritance and focused on phenotypes. Beginning in the mid-1980s, it was replaced by Online Mendelian Inheritance in Man (OMIM®), a continuously updated catalogue documenting molecular relationships between genetic variation and phenotypic expression...
June 21, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/28641282/health-related-genetic-direct-to-consumer-tests-in-the-german-setting-the-available-offer-and-the-potential-implications-for-a-solidarily-financed-health-care-system
#2
Marika Plöthner, Mike Klora, Daniel Rudolph, Johann-Matthias Graf von der Schulenburg
BACKGROUND: The global genetic direct-to-consumer (DTC) market will reach a volume of USD 230 billion in 2018. The expenditures for this genetic analysis are borne by the customer, whereas consequential costs may arise for a solidarily financed system. In a first step, it is essential to gain an overview of the currently available offer in the German setting. METHODS: In April 2016, we conducted a systematic internet search in the Google search engine. In November 2016, we updated the information of the webpages in terms of country, language, types of health-related tests, additional offer of non-health-related DTC test, information about sensitivity and specificity, certification and accreditation, costs as well as reference to German Act on Genetic Testing...
June 23, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28641123/the-practice-environment-scale-of-the-nursing-work-index-an-updated-review-and-recommendations-for-use
#3
REVIEW
Pauline A Swiger, Patricia A Patrician, Rebecca S Susie Miltner, Dheeraj Raju, Sara Breckenridge-Sproat, Lori A Loan
OBJECTIVES: The Practice Environment Scale of the Nursing Work Index (PES-NWI) is an instrument, which measures the nursing practice environment - defined as factors that enhance or attenuate a nurse's ability to practice nursing skillfully and deliver high quality care. The purpose of this paper is to provide an updated review of the Practice Environment Scale of the Nursing Work Index's use to date and provide recommendations that may be helpful to nursing leaders and researchers who plan to use this instrument...
June 12, 2017: International Journal of Nursing Studies
https://www.readbyqxmd.com/read/28641096/hematopoietic-stem-cell-transplantation-for-sickle-cell-anemia-the-changing-landscape
#4
REVIEW
Adetola A Kassim, Deva Sharma
Allogeneic hematopoietic stem cell transplantation (HSCT) remains the only curative therapy for sickle cell disease (SCD); however, its use is limited by lack of suitable human leukocyte antigen (HLA)-matched donors and decreased application in older patients with significant morbidity. Myeloablative, HLA-identical sibling transplantation in children with SCD offers excellent long-term survival, with overall and event-free survival rates of 95% and 92%, respectively. However, the risk of graft-versus-host-disease, infections, infertility, and other long-term transplant complications, further limits its widespread use...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28641048/updates-and-current-challenges-in-microrna-research-for-personalized-medicine-in-ovarian-cancer
#5
Victoria Mandilaras, Mégane Vernon, Matthieu Meryet-Figuière, Katherine Karakasis, Bernard Lambert, Laurent Poulain, Amit Oza, Christophe Denoyelle, Stephanie Lheureux
Ovarian cancer (OC) is the second most common and the most lethal of the gynecological malignancies. Currently, there exists no effective screening tool for OC. MicroRNAs (miRNAs) are endogenous 18-23 nucleotide non-coding RNAs that refine gene expression. MiRNAs have been found to be aberrantly expressed in OC tumor tissue as well as detectable in biological fluids such as the blood, urine, and ascites and have been proposed as biomarkers and therapeutic targets for OC. Areas covered: This review summarizes the current knowledge regarding the application of miRNAs as diagnostic, prognostic, and predictive biomarkers in OC...
June 22, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28640977/neurogenic-bowel-dysfunction-clinical-management-recommendations-of-the-neurologic-incontinence-committee-of-the-fifth-international-consultation-on-incontinence-2013
#6
REVIEW
Nikki Cotterill, Helmut Madersbacher, Jean J Wyndaele, Apostolos Apostolidis, Marcus J Drake, Jerzy Gajewski, John Heesakkers, Jalesh Panicker, Piotr Radziszewski, Ryuji Sakakibara, Karl-Dietrich Sievert, Rizwan Hamid, Thomas M Kessler, Anton Emmanuel
BACKGROUND: Evidence-based guidelines for the management of neurological disease and lower bowel dysfunction have been produced by the International Consultations on Incontinence (ICI). These are comprehensive guidelines, and were developed to have world-wide relevance. AIMS: To update clinical management of neurogenic bowel dysfunction from the recommendations of the 4th ICI, 2009. MATERIALS AND METHODS: A series of evidence reviews and updates were performed by members of the working group...
June 22, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28640967/acta-physiologica-award-outperforming-original-articles-from-2015-2017
#7
EDITORIAL
P B Persson
Recently we announced what maybe the highest award in scientific publishing, the Acta Physiologica Award. The Scandinavian Physiological Society, as the owner of Acta Physiologica, sponsors the prize in recognition of your efforts that have increased the journal's performance. Here is an update of some outstanding original articles from 2015 and 2017. This article is protected by copyright. All rights reserved.
June 22, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28640734/cost-effective-wound-management-a-survey-of-1717-nurses
#8
Heather Newton
Delivering high-quality wound care requires a mix of knowledge and skills, which nurses aim to update by attending educational events such as conferences and study days. This article describes the data obtained from 30 educational study days, which took place across England, Scotland and Wales. It will explore nurses' knowledge in relation to the cost-effectiveness and clinical efficacy of current wound care practices, based on the answers of 1717 delegates that attended the events. It will also outline the results in relation to reducing expenditure on wound dressings and the importance of performing an accurate wound assessment...
June 22, 2017: British Journal of Nursing: BJN
https://www.readbyqxmd.com/read/28640707/response-assessment-in-neuro-oncology-clinical-trials
#9
Patrick Y Wen, Susan M Chang, Martin J Van den Bent, Michael A Vogelbaum, David R Macdonald, Eudocia Q Lee
Development of novel therapies for CNS tumors requires reliable assessment of response and progression. This requirement has been particularly challenging in neuro-oncology for which contrast enhancement serves as an imperfect surrogate for tumor volume and is influenced by agents that affect vascular permeability, such as antiangiogenic therapies. In addition, most tumors have a nonenhancing component that can be difficult to accurately quantify. To improve the response assessment in neuro-oncology and to standardize the criteria that are used for different CNS tumors, the Response Assessment in Neuro-Oncology (RANO) working group was established...
June 22, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28640651/association-of-the-lipoprotein-lipase-gene-ser447ter-polymorphism-with-hypertension-and-blood-pressure-variation-evidence-from-an-updated-meta-analysis
#10
June Wang, Shenlin Du, Jiamin Wang, Man Zhu, Xue Wen, Weiqing Yang
The polymorphism of lipoprotein lipase (LPL) gene Ser447Ter (S447X) has long been linked to hypertension and blood pressure variation, but the established data remained controversial. To better elucidate this inconsistency, a meta-analysis was conducted. We comprehensively searched electronic databases, including Pubmed, EMBASE, China National Knowledge Infrastructure (CNKI), Web of Science, for all literatures with the last update on February 2016. The strength of association was calculated by using odds ratios (ORs) and weighted mean differences (WMDs) with corresponding 95% confidence intervals (CIs)...
June 22, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28637078/-update-cardiovascular-sleep-medicine
#11
Benedikt Linz, Michael Böhm, Dominik Linz
The prevalence of sleep-disordered breathing (SDB) is high in patients with cardiovascular diseases. Typical symptoms like daytime sleepiness can be absent and those patients may report unspecific, therapy-resistant symptoms related to their underlying disease. Particularly sleep-related symptoms like nocturia, nocturnal dyspnea and pectangina can be present. Based on the results of recently published studies, the treatment of central sleep apnea in patients with symptomatic, systolic heart failure by adaptive servo-ventilation is no longer recommended...
June 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28636758/fetal-overnutrition-and-offspring-insulin-resistance-and-%C3%AE-cell-function-the-exploring-perinatal-outcomes-among-children-epoch-study
#12
K A Sauder, C W Hockett, B M Ringham, D H Glueck, D Dabelea
AIMS: To examine the associations of intrauterine exposure to maternal diabetes and obesity with offspring insulin resistance, β-cell function and oral disposition index in a longitudinal observational study of ethnically diverse offspring. METHODS: A total of 445 offspring who were exposed (n=81) or not exposed (n=364) to maternal diabetes in utero completed two fasting blood measurements at mean (sd) ages of 10.5 (1.5) and 16.5 (1.2) years, respectively, and an oral glucose tolerance test at the second visit...
June 21, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28636645/genetic-susceptibility-in-juvenile-myoclonic-epilepsy-systematic-review-of-genetic-association-studies
#13
Bruna Priscila Dos Santos, Chiara Rachel Maciel Marinho, Thalita Ewellyn Batista Sales Marques, Layanne Kelly Gomes Angelo, Maísa Vieira da Silva Malta, Marcelo Duzzioni, Olagide Wagner de Castro, João Pereira Leite, Fabiano Timbó Barbosa, Daniel Leite Góes Gitaí
BACKGROUND: Several genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies. METHODOLOGY: A systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality...
2017: PloS One
https://www.readbyqxmd.com/read/28636568/causes-of-mortality-in-schizophrenia-an-updated-review-of-european-studies
#14
Patryk Piotrowski, Tomasz M Gondek, Anna Królicka-Deręgowska, Błażej Misiak, Tomasz Adamowski, Andrzej Kiejna
BACKGROUND: The excess mortality in schizophrenia is still a phenomenon insufficiently studied on the cross-national level. It is important to analyse current studies on morality in schizophrenia since significant changes have recently taken place in psychiatric health care systems and guidelines of pharmacological treatment have been developed in European countries. SUBJECTS AND METHODS: This article reviews studies addressing mortality in schizophrenia in Europe that were published in English in the Pubmed database in 2009-2014...
June 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28636555/overcoming-resistance-to-targeted-therapy-with-immunotherapy-and-combination-therapy-for-metastatic-melanoma
#15
REVIEW
Hilary R Keller, Xin Zhang, Li Li, Helmut Schaider, James W Wells
Resistance to targeted therapy is an ongoing problem for the successful treatment of Stage IV metastatic melanoma. For many patients, the use of targeted therapies, such as BRAF kinase inhibitors, were initially promising yet resistance inevitably occurred. Even after combining BRAF kinase inhibitors with MEK pathway inhibitors to offset re-activation of the MAP kinase pathway, resistance is still documented. Similarly, outcomes with immune checkpoint inhibitors as monotherapy were optimistic for some patients without relapse or progression, yet the majority of patients undergoing monotherapy have progressive disease...
June 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28636541/methylenetetrahydrofolate-reductase-c677t-polymorphism-and-the-risks-of-polycystic-ovary-syndrome-an-updated-meta-analysis-of-14-studies
#16
Lihong Wang, Wenting Xu, Caihong Wang, Mengyu Tang, Yujia Zhou
Some studies have reported an association between the Methylenetetrahydrofolate reductase (MTHFR) C667T genetic variant and risk of polycystic ovary syndrome (PCOS), although the results remain controversial. A systematic search was conducted on PubMed, Web of Science, EMBASE, Ovid, Chinese National Knowledge Databases and WanFang databases with relevant keywords. Fourteen studies of sixteen distinct populations involving 1478 PCOS cases and used to conduct a meta-analysis. The T allele was not significantly associated with increased risk of PCOS [OR: 1...
June 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28636449/zika-virus-in-ontario-evaluating-a-rapid-risk-assessment-tool-for-emerging-infectious-disease-threats
#17
Ryan Van Meer, Karin Hohenadel, Alanna Fitzgerald-Husek, Bryna Warshawsky, Doug Sider, Brian Schwartz, Mark P Nelder
To determine the Ontario-specific risk of local and travel-related Zika virus transmission in the context of a public health emergency of international concern, Public Health Ontario (PHO) completed a rapid risk assessment (RRA) on January 29, 2016, using a newly developed RRA guidance tool. The RRA concluded that risk of local mosquito-borne transmission was low, with a high risk of imported cases through travel. The RRA was updated 3 times based on predetermined triggers. An independent evaluation assessed both the application of the RRA guidance tool (process evaluation) and the usefulness of the RRA (outcome evaluation)...
May 2017: Health Security
https://www.readbyqxmd.com/read/28636448/ebola-virus-training-a-needs-assessment-and-gap-analysis
#18
Kevin Yeskey, Joseph Hughes, Betsy Galluzzo, Nina Jaitly, James Remington, Deborah Weinstock, Joy Lee Pearson, Jonathan D Rosen
In response to the 2014 Ebola virus disease outbreak, the Worker Training Program embarked on an assessment of existing training for those at risk for exposure to the virus. Searches of the recent peer-reviewed literature were conducted for descriptions of relevant training. Federal guidance issued during 2015 was also reviewed. Four stakeholder meetings were conducted with representatives from health care, academia, private industry, and public health to discuss issues associated with ongoing training. Our results revealed few articles about training that provided sufficient detail to serve as models...
May 2017: Health Security
https://www.readbyqxmd.com/read/28636429/autograft-versus-allograft-for-posterior-cruciate-ligament-reconstruction-an-updated-systematic-review-and-meta-analysis
#19
John W Belk, Matthew J Kraeutler, Justin M Purcell, Eric C McCarty
BACKGROUND: Multiple studies have demonstrated a higher risk of graft failure after anterior cruciate ligament reconstruction with allograft, but limited data are available comparing outcomes of posterior cruciate ligament reconstruction (PCLR) with autograft versus allograft. PURPOSE: To compare the clinical outcomes of autograft versus allograft for primary PCLR. STUDY DESIGN: Systematic review. METHODS: A systematic review was performed by searching PubMed, the Cochrane Library, and EMBASE to locate studies (level of evidence I-III) comparing clinical outcomes of autograft versus allograft in patients undergoing primary PCLR with the conventional transtibial technique...
June 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28636410/targeting-cancer-cell-mitochondria-as-a-therapeutic-approach-recent-updates
#20
Qingbin Cui, Shijun Wen, Peng Huang
Mitochondria play a key role in ATP generation, redox homeostasis and regulation of apoptosis. Due to the essential role of mitochondria in metabolism and cell survival, targeting mitochondria in cancer cells is considered as an attractive therapeutic strategy. However, metabolic flexibility in cancer cells may enable the upregulation of compensatory pathways, such as glycolysis to support cancer cell survival when mitochondrial metabolism is inhibited. Thus, compounds capable of both targeting mitochondria and inhibiting glycolysis may be particularly useful to overcome such drug-resistant mechanism...
June 21, 2017: Future Medicinal Chemistry
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