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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/28641096/hematopoietic-stem-cell-transplantation-for-sickle-cell-anemia-the-changing-landscape
#3
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/28640977/neurogenic-bowel-dysfunction-clinical-management-recommendations-of-the-neurologic-incontinence-committee-of-the-fifth-international-consultation-on-incontinence-2013
#4
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/28637078/-update-cardiovascular-sleep-medicine
#5
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/28636568/causes-of-mortality-in-schizophrenia-an-updated-review-of-european-studies
#6
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
#7
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/28636449/zika-virus-in-ontario-evaluating-a-rapid-risk-assessment-tool-for-emerging-infectious-disease-threats
#8
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
#9
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/28636126/bilateral-diffuse-uveal-melanocytic-proliferation-case-report-and-literature-review
#10
REVIEW
Kristian Klemp, Jens Folke Kiilgaard, Steffen Heegaard, Tove Nørgaard, Mette Klarskov Andersen, Jan Ulrik Prause
Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic intraocular disease that causes progressive visual loss in patients driven by an IgG factor associated with an underlying malignancy. Characteristic ocular findings include exudative retinal detachment, rapid cataract formation and uveal melanocytic tumours. The awareness and documentation of BDUMP has increased during the past decade, and the increasing amount of data collected demonstrates the effect of treatment with plasmapheresis and the value of diagnostic tools in BDUMP such as genetic and immunologic investigations...
June 21, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28635908/-idiopatic-pulmonary-fibrosis-a-new-paradigm
#11
S N Avdeev
Idiopathic pulmonary fibrosis ((IPF) is the most common disease from a group of interstitial lung diseases, which occurs mainly in middle-aged and elderly people. Over the past decade, there have been considerable changes in approaches to diagnosing and treating IPF. The paper presents an update on the epidemiology of IPF, the results of new studies of its pathogenesis, and main approaches to diagnosing the disease. In addition, there is new evidence on therapy for IPF.
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28635906/-obstructive-sleep-apnea-at-high-altitude
#12
A K Myrzaakhmatova
Obstructive sleep apnea (OSA) is an important and socially relevant problem of modern medicine, which is referred to as a most common pathological condition. The problem of OSA is especially urgent for inhabitants of high mountainous regions, as a combination of climatic, social, and cultural factors can significantly affect the course of the disease in both indigenous highlanders and people temporarily residing at high altitude. The paper reviews the current literature covering the problem of OSA at high altitude...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28635677/t-cell-manipulation-strategies-to-prevent-graft-versus-host-disease-in-haploidentical-stem-cell-transplantation
#13
REVIEW
Jayakumar Vadakekolathu, Sergio Rutella
Allogeneic haematopoietic stem cell transplantation (HSCT) from an human leukocyte antigen (HLA)-identical donor can be curative for eligible patients with non-malignant and malignant haematological disorders. HSCT from alternative donor sources, such as HLA-mismatched haploidentical donors, is increasingly considered as a viable therapeutic option for patients lacking HLA-matched donors. Initial attempts at haploidentical HSCT were associated with vigorous bidirectional alloreactivity, leading to unacceptably high rates of graft rejection and graft-versus-host disease (GVHD)...
June 21, 2017: Biomedicines
https://www.readbyqxmd.com/read/28635633/new-insights-in-thyroid-cancer-and-p53-family-proteins
#14
REVIEW
Livia Manzella, Stefania Stella, Maria Stella Pennisi, Elena Tirrò, Michele Massimino, Chiara Romano, Adriana Puma, Martina Tavarelli, Paolo Vigneri
Thyroid cancers are common endocrine malignancies that comprise tumors with different clinical and histological features. Indeed, papillary and follicular thyroid cancers are slow-growing, well-differentiated tumors, whereas anaplastic thyroid cancers are undifferentiated neoplasias that behave much more aggressively. Well-differentiated thyroid carcinomas are efficiently cured by surgery and radioiodine, unlike undifferentiated tumors that fail to uptake radioactive iodine and are usually resistant to chemotherapy...
June 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28634831/malaria-2017-update-on-the-clinical-literature-and-management
#15
REVIEW
Johanna P Daily
PURPOSE OF REVIEW: Malaria is a prevalent disease in travelers to and residents of malaria-endemic regions. Health care workers in both endemic and non-endemic settings should be familiar with the latest evidence for the diagnosis, management and prevention of malaria. This article will discuss the recent malaria epidemiologic and medical literature to review the progress, challenges, and optimal management of malaria. RECENT FINDINGS: There has been a marked decrease in malaria-related global morbidity and mortality secondary to malaria control programs over the last few decades...
June 20, 2017: Current Infectious Disease Reports
https://www.readbyqxmd.com/read/28634519/prevalence-and-risk-factors-of-heart-failure-in-the-usa-nhanes-2013-2014-epidemiological-follow-up-study
#16
Saketram Komanduri, Yogesh Jadhao, Sai S Guduru, Pramil Cheriyath, Yijin Wert
Background: Heart Failure (HF) is a progressive epidemic associated with considerable morbidity and mortality. Self-reported data from the National Health and Nutrition Examination Survey (NHANES) provides a unique representation of individuals suffering from HF. The purpose of this study is to analyze updated NHANES 2013-2014 data to identify any changes in the prevalence and current risk factors of HF, especially given the novel lifestyles and increased medical awareness of current generations. Methods: NHANES uses a multistage probability sampling design under the Centers for Disease Control and Prevention (CDC)...
January 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28634421/the-role-of-von-willebrand-factor-in-vascular-inflammation-from-pathogenesis-to-targeted-therapy
#17
REVIEW
Felice Gragnano, Simona Sperlongano, Enrica Golia, Francesco Natale, Renatomaria Bianchi, Mario Crisci, Fabio Fimiani, Ivana Pariggiano, Vincenzo Diana, Andreina Carbone, Arturo Cesaro, Claudia Concilio, Giuseppe Limongelli, Mariagiovanna Russo, Paolo Calabrò
Beyond its role in hemostasis, von Willebrand factor (VWF) is an emerging mediator of vascular inflammation. Recent studies highlight the involvement of VWF and its regulator, ADAMTS13, in mechanisms that underlie vascular inflammation and immunothrombosis, like leukocyte rolling, adhesion, and extravasation; vascular permeability; ischemia/reperfusion injury; complements activation; and NETosis. The VWF/ADAMTS13 axis is implicated in the pathogenesis of atherosclerosis, promoting plaque formation and inflammation through macrophage and neutrophil recruitment in inflamed lesions...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/28634218/high-quality-statin-trials-support-the-2013-acc-aha-cholesterol-guidelines-after-hope-3-the-multi-ethnic-study-of-atherosclerosis
#18
Martin B Mortensen, Matthew J Budoff, Dong Li, Khurram Nasir, Michael J Blaha, Veit Sandfort, Carlos J Rodriguez, Pamela Ouyang, Erling Falk
The 2013 American College of Cardiology/American Heart Association (ACC/AHA) guideline on cholesterol treatment to prevent atherosclerotic cardiovascular disease (ASCVD) has been criticized for lowering the risk thresholds for primary prevention with statin therapy. Although the ≥ 7.5% (class I) and ≥ 5% (class IIa) 10-year ASCVD risk thresholds were identified as new indications for treatment by extrapolating results obtained in randomized controlled trials (RCT) of statin therapy, results from population-based European cohorts indicate that >30% of individuals eligible for statin therapy by class I recommendations do not have RCT data supporting statin efficacy...
June 20, 2017: Circulation
https://www.readbyqxmd.com/read/28634106/biology-evolution-and-medical-importance-of-polyomaviruses-an-update
#19
REVIEW
Ugo Moens, Andi Krumbholz, Bernhard Ehlers, Roland Zell, Reimar Johne, Sébastien Calvignac-Spencer, Chris Lauber
The family Polyomaviridae encompasses non-enveloped viruses with a circular dsDNA genome that is typically approximately 5000bp in length. Originally isolated from mammals, polyomavirus sequences have now been detected in invertebrates, fish, amphibians, reptiles and birds, although it remains to be determined whether all these animals are genuine hosts. The genomes of all polyomaviruses encode at least two regulatory proteins (large and small tumour antigen) and two structural proteins (capsid proteins VP1 and VP2) whose functions have been defined...
June 17, 2017: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/28632874/screening-for-obesity-in-children-and-adolescents-us-preventive-services-task-force-recommendation-statement
#20
David C Grossman, Kirsten Bibbins-Domingo, Susan J Curry, Michael J Barry, Karina W Davidson, Chyke A Doubeni, John W Epling, Alex R Kemper, Alex H Krist, Ann E Kurth, C Seth Landefeld, Carol M Mangione, Maureen G Phipps, Michael Silverstein, Melissa A Simon, Chien-Wen Tseng
Importance: Based on year 2000 Centers for Disease Control and Prevention growth charts, approximately 17% of children and adolescents aged 2 to 19 years in the United States have obesity, and almost 32% of children and adolescents are overweight or have obesity. Obesity in children and adolescents is associated with morbidity such as mental health and psychological issues, asthma, obstructive sleep apnea, orthopedic problems, and adverse cardiovascular and metabolic outcomes (eg, high blood pressure, abnormal lipid levels, and insulin resistance)...
June 20, 2017: JAMA: the Journal of the American Medical Association
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