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https://www.readbyqxmd.com/read/28102863/a-taxonomy-of-medical-uncertainties-in-clinical-genome-sequencing
#1
Paul K J Han, Kendall L Umstead, Barbara A Bernhardt, Robert C Green, Steven Joffe, Barbara Koenig, Ian Krantz, Leo B Waterston, Leslie G Biesecker, Barbara B Biesecker
PURPOSE: Clinical next-generation sequencing (CNGS) is introducing new opportunities and challenges into the practice of medicine. Simultaneously, these technologies are generating uncertainties of an unprecedented scale that laboratories, clinicians, and patients are required to address and manage. We describe in this report the conceptual design of a new taxonomy of uncertainties around the use of CNGS in health care. METHODS: Interviews to delineate the dimensions of uncertainty in CNGS were conducted with genomics experts and themes were extracted in order to expand on a previously published three-dimensional taxonomy of medical uncertainty...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102792/a-study-exploring-the-protean-responses-of-nurses-transitioning-to-primary-healthcare
#2
Christine Ashley, Elizabeth Halcomb, Angela Brown
Background Healthcare systems are faced with changing community health profiles and ageing populations. Together with economic considerations, these factors have influenced the increase in provision of care in primary rather than other healthcare settings. Many nurses are electing to move from acute care to meet demands for a skilled primary healthcare workforce. However, little is reported about these nurses' experiences of transition. Aim To describe how role theory provides a theoretical framework to inform the design of a mixed-methods study exploring the transition of acute care nurses to roles in primary health care...
January 23, 2017: Nurse Researcher
https://www.readbyqxmd.com/read/28102580/the-sliding-context-of-health-the-challenges-faced-by-patients-with-heart-failure-from-the-perspective-of-patients-health-care-providers-and-family-members
#3
Parvin Mangolian Shahrbabaki, Esmat Nouhi, Majid Kazemi, Fazlollah Ahmadi
AIMS AND OBJECTIVES: The aim of this study was to understand the challenges faced by patients with heart failure. BACKGROUND: Heart failure is a clinical syndrome that is increasing across the globe. People affected with it, encounter various problems that reduce their quality of life and well-being. Therefore, identifying the challenges faced by patients with heart failure is necessary for health care and treatment plans. DESIGN: This study was performed using the qualitative research approach and content analysis method...
January 19, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28102115/can-probiotics-modulate-human-disease-by-impacting-intestinal-barrier-function
#4
Peter A Bron, Michiel Kleerebezem, Robert-Jan Brummer, Patrice D Cani, Annick Mercenier, Thomas T MacDonald, Clara L Garcia-Ródenas, Jerry M Wells
Intestinal barrier integrity is a prerequisite for homeostasis of mucosal function, which is balanced to maximise absorptive capacity, while maintaining efficient defensive reactions against chemical and microbial challenges. Evidence is mounting that disruption of epithelial barrier integrity is one of the major aetiological factors associated with several gastrointestinal diseases, including infection by pathogens, obesity and diabetes, necrotising enterocolitis, irritable bowel syndrome and inflammatory bowel disease...
January 19, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28101826/sagittal-band-boutonniere-and-pulley-injuries-in-the-athlete
#5
REVIEW
Louis Christopher Grandizio, Joel Christian Klena
PURPOSE OF REVIEW: While hand injuries occur frequently in the athletic population, sagittal band ruptures, boutonniere deformities, and pulley ruptures are infrequently encountered. These injuries represent diagnostic challenges and can result in significant impairment. Early recognition with appropriate treatment is necessary to maximize recovery and minimize return to athletic competition. This review will focus on the underlying mechanism, pathophysiology of injury, diagnosis, and treatment of each of these injuries...
January 18, 2017: Current Reviews in Musculoskeletal Medicine
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
#6
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/28100096/targeting-therapy-resistant-cancer-stem-cells-by-hyperthermia
#7
A L Oei, L E M Vriend, P M Krawczyk, M R Horsman, N A P Franken, J Crezee
Eradication of all malignant cells is the ultimate but challenging goal of anti-cancer treatment; most traditional clinically-available approaches fail because there are cells in a tumor that either escape therapy or become therapy-resistant. A subpopulation of cancer cells, the cancer stem cells (CSCs), is considered to be of particular significance for tumor initiation, progression and metastasis. CSCs are considered in particular to be therapy-resistant and may drive disease recurrence, which positions CSCs in the focus of anti-cancer research, but successful CSC-targeting therapies are limited...
January 19, 2017: International Journal of Hyperthermia
https://www.readbyqxmd.com/read/28099838/osteoarthritis-year-in-review-2016-biomarkers-biochemical-markers
#8
REVIEW
A Mobasheri, A-C Bay-Jensen, W E van Spil, J Larkin, M C Levesque
PURPOSE: The aim of this "Year in Review" article is to summarize and discuss the implications of biochemical marker related articles published between the Osteoarthritis Research Society International (OARSI) 2015 Congress in Seattle and the OARSI 2016 Congress in Amsterdam. METHODS: The PubMed/MEDLINE bibliographic database was searched using the combined keywords: 'biomarker' and 'osteoarthritis'. The PubMed/MEDLINE literature search was conducted using the Advanced Search Builder function (http://www...
January 2, 2017: Osteoarthritis and Cartilage
https://www.readbyqxmd.com/read/28099083/update-on-alzheimer-s-disease-therapy-and-prevention-strategies
#9
W Vallen Graham, Alessandra Bonito-Oliva, Thomas P Sakmar
Alzheimer's disease (AD) is the primary cause of age-related dementia. Effective strategies to prevent and treat AD remain elusive despite major efforts to understand its basic biology and clinical pathophysiology. Significant investments in therapeutic drug discovery programs over the past two decades have yielded some important insights but no blockbuster drugs to alter the course of disease. Because significant memory loss and cognitive decline are associated with neuron death and loss of gray matter, especially in the frontal cortex and hippocampus, some focus in drug development has shifted to early prevention of cellular pathology...
January 14, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/28098627/global-collaboration-in-acute-care-clinical-research-opportunities-challenges-and-needs
#10
John C Marshall
The most impactful research in critical care comes from trials groups led by clinician-investigators who study questions arising through the day-to-day care of critically ill patients. The success of this model reflects both "necessity"-the paucity of new therapies introduced through industry-led research-and "clinical reality"-nuanced modulation of standard practice can have substantial impact on clinically important outcomes. Success in a few countries has fueled efforts to build similar models around the world and to collaborate on an unprecedented scale in large international trials...
February 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28097472/proceedings-of-the-third-international-molecular-pathological-epidemiology-mpe-meeting
#11
REVIEW
Peter T Campbell, Timothy R Rebbeck, Reiko Nishihara, Andrew H Beck, Colin B Begg, Alexei A Bogdanov, Yin Cao, Helen G Coleman, Gordon J Freeman, Yujing J Heng, Curtis Huttenhower, Rafael A Irizarry, N Sertac Kip, Franziska Michor, Daniel Nevo, Ulrike Peters, Amanda I Phipps, Elizabeth M Poole, Zhi Rong Qian, John Quackenbush, Harlan Robins, Peter K Rogan, Martha L Slattery, Stephanie A Smith-Warner, Mingyang Song, Tyler J VanderWeele, Daniel Xia, Emily C Zabor, Xuehong Zhang, Molin Wang, Shuji Ogino
Molecular pathological epidemiology (MPE) is a transdisciplinary and relatively new scientific discipline that integrates theory, methods, and resources from epidemiology, pathology, biostatistics, bioinformatics, and computational biology. The underlying objective of MPE research is to better understand the etiology and progression of complex and heterogeneous human diseases with the goal of informing prevention and treatment efforts in population health and clinical medicine. Although MPE research has been commonly applied to investigating breast, lung, and colorectal cancers, its methodology can be used to study most diseases...
January 17, 2017: Cancer Causes & Control: CCC
https://www.readbyqxmd.com/read/28096102/nihr-clinical-research-networks-what-they-do-and-how-they-help-paediatric-research
#12
REVIEW
Hanna Lythgoe, Victoria Price, Vanessa Poustie, Sabah Attar, Daniel Hawcutt, Jennifer Preston, Michael W Beresford
This review provides paediatricians with an update on the new structure of the National Institute for Health Research's (NIHR) Clinical Research Network (CRN): Children and its role within the wider NIHR infrastructure. The network supports delivery of high-quality research within the NHS in England and supports researchers, through provision of staff and resources, with feasibility, site set-up, patient recruitment and study management. Since 2013, over 80% of commercial contract studies running within the UK sat within the UKCRN Portfolio...
January 17, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28095650/bone-tissue-engineering-in-oral-peri-implant-defects-in-preclinical-in-vivo-research-a-systematic-review-and-meta-analysis
#13
REVIEW
Siddharth Shanbhag, Nikolaos Pandis, Kamal Mustafa, Jens R Nyengaard, Andreas Stavropoulos
Regeneration and establishment of osseointegration within oral peri-implant bone defects remains a clinical challenge. Bone tissue engineering (BTE) is emerging as a promising alternative to autogenous and/or biomaterial-based bone grafting. The objective of this systematic review was to answer the focused question: in animal models, do cell-based BTE strategies enhance bone regeneration and/or implant osseointegration in experimental peri-implant defects, compared to grafting with autogenous bone or only biomaterial scaffolds? Electronic databases were searched for controlled animal studies reporting on peri-implant defects and implantation of mesenchymal stem cells (MSC) or other cells seeded on biomaterial scaffolds, following PRISMA guidelines...
January 17, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/28095141/an-old-problem-aging-and-skeletal-muscle-strain-injury
#14
Brent A Baker
: Clinical Scenario: Even though chronological aging is an inevitable phenomenological consequence occurring in every living organism, it is biological aging that may be the most significant factor challenging our quality of life. Development of functional limitations, resulting from improper maintenance and restoration of various organ systems, ultimately leads to reduced health and independence. Skeletal muscle is an organ system, that when challenged, is often injured in response to varying stimuli...
January 17, 2017: Journal of Sport Rehabilitation
https://www.readbyqxmd.com/read/28094121/mealtime-behavior-among-parents-and-their-young-children-with-food-allergy
#15
Linda Jones Herbert, Priya Mehta, Hemant Sharma
BACKGROUND: Food allergies are increasingly prevalent in the pediatric population. Balancing allergen avoidance with the promotion of healthy eating behaviors can be challenging for families. OBJECTIVE: To characterize mealtime behaviors among parents of young children with food allergy. METHODS: Seventy-four parents of young children with food allergies (≤7 years of age) completed measures of mealtime behavior, perceptions of food allergy risk and severity, pediatric parenting stress, and food allergy-related quality of life...
January 13, 2017: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/28093977/the-amyloid-cascade-hypothesis-in-alzheimer-s-disease-it-s-time-to-change-our-mind
#16
Roberta Ricciarelli, Ernesto Fedele
Since its discovery in 1984, the beta amyloid peptide has treaded the boards of neurosciences as the star molecule in Alzheimer's disease pathogenesis. In the last decade, however, this vision has been challenged by evidence-based medicine showing the almost complete failure of clinical trials that experimented anti-amyloid therapies with great hopes. Moreover, data have accumulated which clearly indicates that this small peptide plays a key role in the physiological processes of memory formation. In the present review, we will discuss the different aspects of the amyloid cascade hypothesis, highlighting its pros and cons, and we will analyse the results of the therapeutic approaches attempted to date that should change the direction of Alzheimer's disease research in the future...
January 16, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28093680/the-international-diffuse-intrinsic-pontine-glioma-registry-an-infrastructure-to-accelerate-collaborative-research-for-an-orphan-disease
#17
Joshua Baugh, Ute Bartels, James Leach, Blaise Jones, Brooklyn Chaney, Katherine E Warren, Jenavieve Kirkendall, Renee Doughman, Cynthia Hawkins, Lili Miles, Christine Fuller, Tim Hassall, Eric Bouffet, Adam Lane, Darren Hargrave, Jacques Grill, Lindsey M Hoffman, Chris Jones, Alex Towbin, Sharon A Savage, Michelle Monje, Xiao-Nan Li, David S Ziegler, Sophie Veldhuijzen van Zanten, Christof M Kramm, Dannis G van Vuurden, Maryam Fouladi
Diffuse intrinsic pontine glioma (DIPG), a rare, often fatal childhood brain tumor, remains a major therapeutic challenge. In 2012, investigators, funded by the DIPG Collaborative (a philanthropic partnership among 29 private foundations), launched the International DIPG Registry (IDIPGR) to advance understanding of DIPG. Comprised of comprehensive deidentified but linked clinical, imaging, histopathological, and genomic repositories, the IDIPGR uses standardized case report forms for uniform data collection; serial imaging and histopathology are centrally reviewed by IDIPGR neuro-radiologists and neuro-pathologists, respectively...
January 16, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28093613/recent-trends-in-the-distribution-of-causative-diseases-of-fever-of-unknown-origin
#18
Jin Shang, Libo Yan, Lingyao Du, Lingbo Liang, Qiaoling Zhou, Tao Liang, Lang Bai, Hong Tang
Fever of unknown origin is a challenging diagnostic problem and the aim of this research was to analyze trends in the distribution of its causative diseases. This retrospective study makes a comparison between two different clinical series of patients from two different periods: 227 from period 1 (1998-2002) and 602 from period 2 (2008-2012). There were fewer infections (31.72% vs.16.45%) and more miscellaneous causes (5.29% vs. 13.12%) in the period 2 series, whereas no significant differences in autoimmune diseases, malignancies and undiagnosed cases were found...
January 16, 2017: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/28092471/genomics-pipelines-and-data-integration-challenges-and-opportunities-in-the-research-setting
#19
Jeremy Davis-Turak, Sean M Courtney, E Starr Hazard, W Bailey Glen, Willian da Silveira, Timothy Wesselman, Larry P Harbin, Bethany J Wolf, Dongjun Chung, Gary Hardiman
The emergence and mass utilization of high-throughput (HT) technologies, including sequencing technologies (genomics) and mass spectrometry (proteomics, metabolomics, lipids), has allowed geneticists, biologists, and biostatisticians to bridge the gap between genotype and phenotype on a massive scale. These new technologies have brought rapid advances in our understanding of cell biology, evolutionary history, microbial environments, and are increasingly providing new insights and applications towards clinical care and personalized medicine...
January 16, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28092280/challenges-and-opportunities-to-enhance-global-drug-development-in-neonates
#20
Alexandra M Smith, Jonathan M Davis
PURPOSE OF REVIEW: This study reviews the history of neonatal drug development, recent legislative efforts designed to facilitate the study of therapeutic agents in neonates, and future steps necessary to advance drug development. RECENT FINDINGS: Although many federal regulations have been introduced over the past 15 years to encourage pediatric and neonatal drug development, the majority of medications that are used in the Neonatal Intensive Care Unit are not approved by the Food and Drug Administration (FDA) for use in neonates...
January 13, 2017: Current Opinion in Pediatrics
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