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https://www.readbyqxmd.com/read/28106320/classification-of-genes-standardized-clinical-validity-assessment-of-gene-disease-associations-aids-diagnostic-exome-analysis-and-reclassifications
#1
Erica D Smith, Kelly Radtke, Mari Rossi, Deepali N Shinde, Sourat Darabi, Dima El-Khechen, Zöe Powis, Katherine Helbig, Kendra Waller, Dorothy K Grange, Sha Tang, Kelly D Farwell Hagman
Ascertaining a diagnosis through exome sequencing can provide potential benefits to patients, insurance companies, and the healthcare system. Yet as diagnostic sequencing is increasingly employed, vast amounts of human genetic data are produced that need careful curation. We discuss methods for accurately assessing the clinical validity of gene-disease relationships to interpret new research findings in a clinical context and increase the diagnostic rate. The specifics of a gene-disease scoring system adapted for use in a clinical laboratory are described...
January 20, 2017: Human Mutation
https://www.readbyqxmd.com/read/28103849/-how-do-ethnic-minority-patients-experience-the-intercultural-care-encounter-in-hospitals-a-systematic-review-of-qualitative-research
#2
Liesbet Degrie, Chris Gastmans, Lieslot Mahieu, Bernadette Dierckx de Casterlé, Yvonne Denier
BACKGROUND: In our globalizing world, caregivers are increasingly being confronted with the challenges of providing intercultural healthcare, trying to find a dignified answer to the vulnerable situation of ethnic minority patients. Until now, international literature lacks insight in the intercultural care process as experienced by the ethnic minority patients themselves. We aim to fill this gap by analysing qualitative literature on the intercultural care encounter in the hospital setting, as experienced by ethnic minority patients...
January 19, 2017: BMC Medical Ethics
https://www.readbyqxmd.com/read/28102939/what-is-the-relationship-between-increased-access-to-haart-relationship-status-and-fertility-decisions-amongst-hiv-positive-women-a-literature-review-and-meta-analysis
#3
REVIEW
Abigail Burgess, Edward Purssell
AIMS AND OBJECTIVES: To investigate the relationship between fertility decisions, to have already had a child or to desire to have one in the future, and the prognostic factors of; access to antiretrovirals, the time since these became widely available (year of the study) and relationship status. BACKGROUND: There have been significant advances in the treatment of Human Immunodeficiency Virus (HIV) with the advent of antiretroviral therapy which has been used to successfully reduce the rate of mother to child transmission; leading researchers to hypothesise that HIV positive women may desire to have children more so now than in the past...
January 19, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28100560/prevalence-impact-and-cost-of-multimorbidity-in-a-cohort-of-people-with-chronic-pain-in-ireland-a-study-protocol
#4
Brian W Slattery, Laura O'Connor, Stephanie Haugh, Christopher P Dwyer, Siobhan O'Higgins, Line Caes, Jonathan Egan, Brian E McGuire
INTRODUCTION: Multimorbidity (MM) refers to the coexistence of two or more chronic conditions within one person, where no one condition is considered primary. As populations age and healthcare provision improves, MM is becoming increasingly common and poses a challenge to the single morbidity approach to illness management, usually adopted by healthcare systems. Indeed, recent research has shown that 66.2% of the people in primary care in Ireland are living with MM. Healthcare usage and cost is significantly associated with MM, and additional chronic conditions lead to exponential increases in service usage and financial costs, and decreases in physical and mental well-being...
January 18, 2017: BMJ Open
https://www.readbyqxmd.com/read/28099516/clinical-practice-guidelines-for-rare-diseases-the-orphanet-database
#5
Sonia Pavan, Kathrin Rommel, María Elena Mateo Marquina, Sophie Höhn, Valérie Lanneau, Ana Rath
Clinical practice guidelines (CPGs) for rare diseases (RDs) are scarce, may be difficult to identify through Internet searches and may vary in quality depending on the source and methodology used. In order to contribute to the improvement of the diagnosis, treatment and care of patients, Orphanet (www.orpha.net) has set up a procedure for the selection, quality evaluation and dissemination of CPGs, with the aim to provide easy access to relevant, accurate and specific recommendations for the management of RDs...
2017: PloS One
https://www.readbyqxmd.com/read/28098672/a-chronicle-of-pa-journals
#6
Roderick S Hooker
At its semicentennial mark, the PA profession appears to be flourishing. Over the past 50 years, a number of journals have emerged to highlight the development of the profession and offer observations on it. The Physician Associate Journal, launched in 1970, was the first foray into PA reporting. Following this small effort, a dozen journals or newspapers came into print, lasted for a while, and then were replaced or died. Of journals that survived to the present, four are in English and one in Dutch. Three of the five journals are association-based, and four produce clinical articles; publication is monthly, quarterly, or semiannually...
February 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/28098398/depression-and-discrimination-in-the-lives-of-women-transgender-and-gender-liminal-people-in-ontario-canada
#7
Charmaine C Williams, Deone Curling, Leah S Steele, Margaret F Gibson, Andrea Daley, Datejie Cheko Green, Lori E Ross
This article uses an intersectionality lens to explore how experiences of race, gender, sexuality, class and their intersections are associated with depression and unmet need for mental healthcare in a population of 704 women and transgender/gender liminal people from Ontario, Canada. A survey collecting demographic information, information about mental health and use of mental healthcare services, and data for the Everyday Discrimination Scale and the PHQ-9 Questionnaire for Depression was completed by 704 people via Internet or pen-and-paper between June 2011 and June 2012...
January 18, 2017: Health & Social Care in the Community
https://www.readbyqxmd.com/read/28098011/an-evaluation-of-the-florence-nightingale-foundation-scholarships
#8
Matthew Rose, Angela Tod, Candy McCabe, Richard Giordano
The Florence Nightingale Foundation (FNF) is a charity that awards scholarships in leadership, travel and research to nurses, midwives and other healthcare professionals to promote excellence in practice. The FNF offers mentoring support to scholars, and provides support with career development and writing articles for publication, in addition to the financial award. The leadership scholarships are bespoke: leadership scholars can access a range of development opportunities that are specially commissioned for them, and select their programme of study and experiences, based on their individual needs...
January 18, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28097993/exploring-how-mindfulness-and-self-compassion-can-enhance-compassionate-care
#9
Caroline Barratt
Research suggests that the development of mindfulness and self-compassion may help to improve the well-being and resilience of professionals and students in the healthcare setting. This is reflected in the growth of mindfulness training for these individuals. Mindfulness is an important aspect of self-compassion, and healthcare professionals should be aware of the need to care for themselves when caring for others. This article explores the concepts of mindfulness and self-compassion and their relationship with, and ability to enhance, compassionate care...
January 18, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28094587/applying-theories-to-better-understand-socio-political-challenges-in-implementing-evidence-based-work-disability-prevention-strategies
#10
Christian Ståhl, Katia Costa-Black, Patrick Loisel
PURPOSE: This article explores and applies theories for analyzing socio-political aspects of implementation of work disability prevention (WDP) strategies. METHOD: For the analysis, theories from political science are explained and discussed in relation to case examples from three jurisdictions (Sweden, Brazil and Québec). RESULTS: Implementation of WDP strategies may be studied through a conceptual framework that targets: (1) the institutional system in which policy-makers and other stakeholders reside; (2) the ambiguity and conflicts regarding what to do and how to do it; (3) the bounded rationality, path dependency and social systems of different stakeholders; and (4) coalitions formed by different stakeholders and power relations between them...
January 17, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28092724/the-pediatric-rome-iv-criteria-what-s-new
#11
Ilan J N Koppen, Samuel Nurko, Miguel Saps, Carlo Di Lorenzo, Marc A Benninga
Functional gastrointestinal disorders (FGIDs) are common in children of all ages and comprise of a wide range of conditions related to the gastrointestinal tract that cannot be attributed to structural or biochemical abnormalities. FGIDs are diagnosed according to the symptom-based Rome criteria. Areas covered: In 2016, the revised pediatric Rome IV criteria were published, these revised criteria are discussed in this review article. For the youngest age group (neonates/toddlers), the criteria for infant colic have undergone the most notable revisions...
January 16, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28090649/-the-pharmacogenomics-research-network-translational-pharmacogenetics-program-outcomes-and-metrics-of-pharmacogenetic-implementations-across-diverse-healthcare-systems
#12
Jasmine A Luzum, Ruth E Pakyz, Amanda R Elsey, Cyrine E Haidar, Josh F Peterson, Michelle Whirl-Carrillo, Samuel K Handelman, Kathleen Palmer, Jill M Pulley, Marc Beller, Jonathan S Schildcrout, Julie R Field, Kristin W Weitzel, Rhonda M Cooper-DeHoff, Larisa H Cavallari, Peter H O'Donnell, Russ B Altman, Naveen Pereira, Mark J Ratain, Dan M Roden, Peter J Embi, Wolfgang Sadee, Teri E Klein, Julie A Johnson, Mary V Relling, Liewei Wang, Richard M Weinshilboum, Alan R Shuldiner, Robert R Freimuth
Numerous pharmacogenetic clinical guidelines and recommendations have been published, but barriers have hindered the clinical implementation of pharmacogenetics. The Translational Pharmacogenetics Program (TPP) of the NIH Pharmacogenomics Research Network was established in 2011 to catalog and contribute to the development of pharmacogenetic implementations at eight US healthcare systems, with the goal to disseminate real-world solutions for the barriers to clinical pharmacogenetic implementation. The TPP collected and normalized pharmacogenetic implementation metrics through June 2015, including gene-drug pairs implemented, interpretations of alleles and diplotypes, numbers of tests performed and actionable results, and workflow diagrams...
January 16, 2017: Clinical Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28089979/quality-of-care-for-systemic-lupus-erythematosus-mind-the-knowledge-gap
#13
Vera Golder, Eric F Morand, Alberta Y Hoi
Systemic lupus erythematosus (SLE) is a prototypical chronic multiorgan autoimmune disorder that can lead to significant burden of disease and loss of life expectancy. The disease burden is the result of a complex interplay between genetic, biologic, socioeconomic, and health system variables affecting the individual. Recent advances in biological understanding of SLE are yet to translate to transformative therapies, and genetic and socioeconomic variables are not readily amenable to intervention. In contrast, healthcare quality, a variable readily amenable to change, has been inadequately addressed in SLE, despite evidence in other chronic diseases that quality of care is strongly associated with patient outcomes...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28088253/integration-of-traditional-chinese-medicine-and-western-medicine-in-the-era-of-precision-medicine
#14
EDITORIAL
Wen-Jian Wang, Teng Zhang
Precision medicine has received growing recognition from clinicians, health systems, and the pharmaceutical industry, as well as patients and policymakers, which will leave a major impact on the practice of medicine. Interestingly, traditional Chinese medicine (TCM) provides personalized medical treatment based on the theory of TCM characterized by holistic concept and pattern differentiation. This, to some extent, is similar to the personalized medical treatment of precision medicine. In China, TCM as well as Western medicine (WM) plays an important role in healthcare...
January 2017: Journal of Integrative Medicine
https://www.readbyqxmd.com/read/28080988/medical-mycology-and-fungal-immunology-new-research-perspectives-addressing-a-major-world-health-challenge
#15
REVIEW
Neil A R Gow, Mihai G Netea
Fungi cause more than a billion skin infections, more than 100 million mucosal infections, 10 million serious allergies and more than a million deaths each year. Global mortality owing to fungal infections is greater than for malaria and breast cancer and is equivalent to that owing to tuberculosis (TB) and HIV. These statistics evidence fungal infections as a major threat to human health and a major burden to healthcare budgets worldwide. Those patients who are at greatest risk of life-threatening fungal infections include those who have weakened immunity or have suffered trauma or other predisposing infections such as HIV...
December 5, 2016: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28073811/exploratory-trials-in-mental-health-anything-to-learn-from-other-disciplines
#16
Sven Trelle
OBJECTIVE: Confirmatory randomised controlled trials require solid justifications, especially with regard to whether the experimental intervention is promising. Such evidence is generated in exploratory trials. However, empirical evidence shows that the quality of such trials is still suboptimal. More generally, the development process of healthcare interventions and especially of drugs, remains inefficient. Over the past 10-20 years, a vast amount of methodological work has been published about exploratory trials...
January 10, 2017: Evidence-based Mental Health
https://www.readbyqxmd.com/read/28073347/assessing-the-performance-of-centralized-waiting-lists-for-patients-without-a-regular-family-physician-using-clinical-administrative-data
#17
Mylaine Breton, Mélanie Ann Smithman, Astrid Brousselle, Christine Loignon, Nassera Touati, Carl-Ardy Dubois, Kareen Nour, Antoine Boivin, Djamal Berbiche, Danièle Roberge
BACKGROUND: With 4.6 million patients who do not have a regular family physician, Canada performs poorly compared to other OECD countries in terms of attachment to a family physician. To address this issue, several provinces have implemented centralized waiting lists to coordinate supply and demand for attachment to a family physician. Although significant resources are invested in these centralized waiting lists, no studies have measured their performance. In this article, we present a performance assessment of centralized waiting lists for unattached patients implemented in Quebec, Canada...
January 5, 2017: BMC Family Practice
https://www.readbyqxmd.com/read/28072478/the-difficulties-experienced-by-nurses-and-healthcare-staff-involved-in-the-process-of-breaking-bad-news
#18
Clare Warnock, Jean Buchanan, Angela Mary Tod
AIMS: To explore the difficulties experienced by nurses and healthcare professionals when engaging in the process of breaking bad news BACKGROUND: The challenges faced by staff when breaking bad news have previously been researched in relation to particular settings or subjects. This study involved staff from diverse settings and roles to develop broader insights into the range of difficulties experienced in clinical practice. DESIGN: The study used a descriptive survey design involving self-reported written accounts and framework analysis...
January 10, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28072469/burnout-mediates-the-association-between-depression-and-patient-safety-perceptions-a-cross-sectional-study-in-hospital-nurses
#19
Judith Johnson, Gemma Louch, Alice Dunning, Olivia Johnson, Angela Grange, Caroline Reynolds, Louise Hall, Jane O'Hara
BACKGROUND: There is growing interest in the relationships between depressive symptoms and burnout in healthcare staff and the safety of patient care. Depressive symptoms are higher in healthcare staff than the general population and overlap conceptually with burnout. However, minimal research has investigated these variables in nurses. Given the conceptual overlap between depressive symptoms and burnout, there is also a need for an explanatory model outlining the relative contributions of these factors to patient safety...
January 10, 2017: Journal of Advanced Nursing
https://www.readbyqxmd.com/read/28070870/defining-the-risk-and-associated-morbidity-and-mortality-of-severe-respiratory-syncytial-virus-infection-among-infants-with-congenital-heart-disease
#20
REVIEW
Paul A Checchia, Bosco Paes, Louis Bont, Paolo Manzoni, Eric A F Simões, Brigitte Fauroux, Josep Figueras-Aloy, Xavier Carbonell-Estrany
INTRODUCTION: The REGAL (RSV Evidence-a Geographical Archive of the Literature) series provide a comprehensive review of the published evidence in the field of respiratory syncytial virus (RSV) in Western countries over the last 20 years. This fourth publication covers the risk and burden of RSV infection in infants with congenital heart disease (CHD). METHODS: A systematic review was undertaken for articles published between January 1, 1995 and December 31, 2015 across PubMed, Embase, The Cochrane Library, and Clinicaltrials...
January 9, 2017: Infectious Diseases and Therapy
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