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https://www.readbyqxmd.com/read/29779130/the-present-and-the-future-of-genetic-testing-in-familial-hypercholesterolemia-opportunities-and-caveats
#1
REVIEW
Amanda J Hooper, John R Burnett, Damon A Bell, Gerald F Watts
PURPOSE OF REVIEW: We summarize recent advances in the understanding of genetic testing in familial hypercholesterolemia (FH), the use of expanded FH next-generation sequencing panels, and directions for future research. RECENT FINDINGS: The uptake of massively parallel sequencing in research and diagnostic laboratories has enabled expanded testing for FH and its phenocopies, with the added advantage that copy number variants can be detected. However, increasing the number of genes tested increases the number of variants detected, which may or may not be pathogenic...
May 19, 2018: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/29777320/ethical-issues-in-conducting-research-with-children-and-families-affected-by-disasters
#2
REVIEW
Regardt J Ferreira, Fred Buttell, Clare Cannon
PURPOSE OF REVIEW: We review topical evidence on ethical issues in conducting disaster research with children and families affected by natural disasters, with an emphasis on analyzing specific vulnerabilities associated with children and families affected by disasters, identifying significant findings and trends of ethical guidelines and approaches, and discussing key observations into ethical research in a disaster setting. RECENT FINDINGS: Current evidence indicates that there is a wide range of research methods for child disaster studies...
May 18, 2018: Current Psychiatry Reports
https://www.readbyqxmd.com/read/29764891/developing-a-complex-intervention-to-support-timely-engagement-with-palliative-care-for-patients-with-advanced-cancer-in-primary-and-secondary-care-in-the-uk-a-study-protocol
#3
Julia Hackett, Hilary Bekker, Michael I Bennett, Paul Carder, Jean Gallagher, Claire Henry, Suzanne Kite, Sally Taylor, Galina Velikova, Lucy Ziegler
INTRODUCTION: For patients with advanced cancer, timely access to palliative care can improve quality of life and enable patients to participate in decisions about their end-of-life care. However, in a UK population of 2500 patients who died from cancer, one-third did not receive specialist palliative care, and of those who did, the duration of involvement was too short to maximise the benefits. Initiating a conversation about palliative care is challenging for some health professionals and patients often have unmet information needs and misconceptions about palliative care...
May 14, 2018: BMJ Open
https://www.readbyqxmd.com/read/29763271/adults-with-developmental-disabilities-a-comprehensive-approach-to-medical-care
#4
Clarissa Kripke
Developmental disabilities are attributable to a cognitive impairment, physical impairment, or both. They manifest during the developmental period from birth to early adulthood, and are likely to continue indefinitely. The life expectancy of most persons with developmental disabilities now approaches that of the general population. According to the neurodiversity model of care, developmental disability is accepted as a valued part of human neurologic diversity. The social model focuses on improving participation in society with accommodations such as adaptive equipment or improvements to the social and physical environment...
May 15, 2018: American Family Physician
https://www.readbyqxmd.com/read/29760577/perceptions-of-acute-malnutrition-and-its-management-in-infants-under-6-months-of-age-a-qualitative-study-in-rural-bangladesh
#5
Yasir Arafat, M Munirul Islam, Nicki Connell, Golam Mothabbir, Marie McGrath, James A Berkley, Tahmeed Ahmed, Marko Kerac
Background: World Health Organization guidelines advise community-based care (CBC) for "uncomplicated" severe acute malnutrition (SAM) infants <6 months old (u6m), whereas current national protocols refer to inpatient care. Our aim was to inform and shape future management strategies by understanding caregivers' and different stakeholders' perceptions on malnutrition among infants u6m on barriers/facilitators to future CBC. Methods: The methods used in this study are as follows: in-depth interviews and focus group discussions (FGDs) in southern Bangladesh, thematic analysis of transcripts, and sample size by data saturation...
2018: Clinical Medicine Insights. Pediatrics
https://www.readbyqxmd.com/read/29760253/deprescribing-benzodiazepine-receptor-agonists-evidence-based-clinical-practice-guideline
#6
Kevin Pottie, Wade Thompson, Simon Davies, Jean Grenier, Cheryl A Sadowski, Vivian Welch, Anne Holbrook, Cynthia Boyd, Robert Swenson, Andy Ma, Barbara Farrell
OBJECTIVE: To develop an evidence-based guideline to help clinicians make decisions about when and how to safely taper and stop benzodiazepine receptor agonists (BZRAs); to focus on the highest level of evidence available and seek input from primary care professionals in the guideline development, review, and endorsement processes. METHODS: The overall team comprised 8 clinicians (1 family physician, 2 psychiatrists, 1 clinical psychologist, 1 clinical pharmacologist, 2 clinical pharmacists, and 1 geriatrician) and a methodologist; members disclosed conflicts of interest...
May 2018: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/29757843/strategies-used-to-facilitate-the-discussion-of-advance-care-planning-with-older-adults-in-primary-care-settings-a-literature-review
#7
Guillermina R Solis, Bibiana M Mancera, Megan Johnson Shen
BACKGROUND AND PURPOSE: The purpose of this literature review was to evaluate strategies used in primary care settings to initiate advance care planning (ACP) conversations leading to the completion of an advance directive (AD). Approximately 50% of older adults have an AD; few talk to their primary care provider (PCP) about end-of-life wishes. The Institute of Medicine report and recent changes in Medicare reimbursement policies create opportunities for PCPs to address ACP in primary care settings...
May 2018: Journal of the American Association of Nurse Practitioners
https://www.readbyqxmd.com/read/29751285/improving-identification-and-management-of-familial-hypercholesterolaemia-in-primary-care-pre-and-post-intervention-study
#8
Stephen Weng, Joe Kai, Jennifer Tranter, Jo Leonardi-Bee, Nadeem Qureshi
BACKGROUND AND AIMS: Familial hypercholesterolaemia (FH) is a major cause of premature heart disease but remains unrecognised in most patients. This study investigated if a systematic primary care-based approach to identify and manage possible FH improves recommended best clinical practice. METHODS: Pre- and post-intervention study in six UK general practices (population 45,033), which invited patients with total cholesterol >7.5 mmol/L to be assessed for possible FH...
April 30, 2018: Atherosclerosis
https://www.readbyqxmd.com/read/29747326/-current-status-and-the-consistency-analysis-of-using-two-criteria-for-decision-making-of-aspirin-use-for-the-primary-prevention-of-ischemic-cardiovascular-disease-in-outpatients
#9
H J Zuo, L Q Deng, J W Wang
Objective: To compare the consistency and accuracy of using 2 criteria for decision making of aspirin use for the primary prevention of ischemic cardiovascular disease (ISCVD) and explore the current status and related factors of aspirin use for the primary prevention of ISCVD in Chinese outpatients. Methods: This cross-sectional study enrolled 3 018 outpatients with hypertension, diabetes, or hypercholesterolemia, who visited the General Practice (GP) clinics of Anzhen hospital in Beijing from September to December 2015 were enrolled in...
April 24, 2018: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/29742551/exploring-research-topics-and-trends-in-nursing-related-communication-in-intensive-care-units-using-social-network-analysis
#10
Youn-Jung Son, Soo-Kyoung Lee, SeJin Nam, Jae Lan Shim
This study used social network analysis to identify the main research topics and trends in nursing-related communication in intensive care units. Keywords from January 1967 to June 2016 were extracted from PubMed using Medical Subject Headings terms. Social network analysis was performed using Gephi software. Research publications and newly emerging topics in nursing-related communication in intensive care units were classified into five chronological phases. After the weighting was adjusted, the top five keyword searches were "conflict," "length of stay," "nursing continuing education," "family," and "nurses...
May 4, 2018: Computers, Informatics, Nursing: CIN
https://www.readbyqxmd.com/read/29733246/treating-tobacco-use-in-patients-with-incurable-malignancies-should-we-even-start-the-conversation
#11
Susan Trout, Adam O Goldstein, Lawrence Marks, Carol Ripley-Moffitt
BACKGROUND: Clinical practice guidelines recommend that all medical providers address tobacco use with patients, as the long-term health benefits of becoming tobacco free are well documented. What happens, though, when a patient has an incurable malignancy and, therefore, will not reap the long-term benefits? Clinical Consideration: Our case study encourages providers to consider the relevance of tobacco use treatment for those with incurable diseases. DISCUSSION: Although long-term benefits will not provide realistic motivation, other equally important rewards (e...
May 7, 2018: Journal of Palliative Medicine
https://www.readbyqxmd.com/read/29731958/main-implications-related-to-the-switch-to-brca-1-2-tumor-testing-in-ovarian-cancer-patients-a-proposal-of-a-consensus
#12
Ettore Capoluongo, Giovanni Scambia, Jean-Marc Nabholtz
Background: Since the approval of the first poly (adenosine diphosphate [ADP]) ribose polymerase inhibitor (PARPi; olaparib [Lynparza™]) for platinum-sensitive relapsed high grade ovarian cancer, with either germline or somatic BRCA1/2 deleterious variants, the strategies for BRCA1/2 are dynamically changing. Along with germline testing within the context of familial or sporadic ovarian cancer, patients are now being referred for BRCA1/2 genetic assay above all for treatment decisions: in this setting tumour BRCA assay can allow to identify an estimated 3-9% of patients with peculiar somatic BRCA1/2 mutations...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29731212/no-292-abnormal-uterine-bleeding-in-pre-menopausal-women
#13
Sukhbir Singh, Carolyn Best, Sheila Dunn, Nicholas Leyland, Wendy Lynn Wolfman
BACKGROUND: Abnormal uterine bleeding is the direct cause of a significant health care burden for women, their families, and society as a whole. Up to 30% of women will seek medical assistance for this problem during their reproductive years. This guideline replaces previous clinical guidelines on the topic and is aimed to enable health care providers with the tools to provide the latest evidence-based care in the diagnosis and the medical and surgical management of this common problem...
May 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29728327/managing-complexity-in-evidence-analysis-a-worked-example-in-pediatric-weight-management
#14
James Scott Parrott, Beverly Henry, Kyle L Thompson, Jane Ziegler, Deepa Handu
Nutrition interventions are often complex and multicomponent. Typical approaches to meta-analyses that focus on individual causal relationships to provide guideline recommendations are not sufficient to capture this complexity. The objective of this study is to describe the method of meta-analysis used for the Pediatric Weight Management (PWM) Guidelines update and provide a worked example that can be applied in other areas of dietetics practice. The effects of PWM interventions were examined for body mass index (BMI), body mass index z-score (BMIZ), and waist circumference at four different time periods...
May 2, 2018: Journal of the Academy of Nutrition and Dietetics
https://www.readbyqxmd.com/read/29727378/patient-and-professional-factors-that-impact-the-perceived-likelihood-and-confidence-of-healthcare-professionals-to-discuss-implantable-cardioverter-defibrillator-deactivation-in-advanced-heart-failure-results-from-an-international-factorial-survey
#15
Loreena Hill, Sonja McIlfatrick, Brian J Taylor, Tiny Jaarsma, Debra Moser, Paul Slater, Toni McAloon, Lana Dixon, Patrick Donnelly, Anna Stromberg, Donna Fitzsimons
BACKGROUND: Rate of implantable cardioverter defibrillator (ICD) implantations is increasing in patients with advanced heart failure. Despite clear guideline recommendations, discussions addressing deactivation occur infrequently. AIM: The aim of this article is to explore patient and professional factors that impact perceived likelihood and confidence of healthcare professionals to discuss ICD deactivation. METHODS AND RESULTS: Between 2015 and 2016, an international sample of 262 healthcare professionals (65% nursing, 24% medical) completed an online factorial survey, encompassing a demographic questionnaire and clinical vignettes...
April 26, 2018: Journal of Cardiovascular Nursing
https://www.readbyqxmd.com/read/29723217/fitting-item-response-unfolding-models-to-likert-scale-data-using-mirt-in-r
#16
Chen-Wei Liu, R Philip Chalmers
While a large family of unfolding models for Likert-scale response data have been developed for decades, very few applications of these models have been witnessed in practice. There may be several reasons why these have not appeared more widely in published research, however one obvious limitation appears to be the absence of suitable software for model estimation. In this article, the authors demonstrate how the mirt package can be adopted to estimate parameters from various unidimensional and multidimensional unfolding models...
2018: PloS One
https://www.readbyqxmd.com/read/29722750/a-survey-of-canadian-occupational-therapy-practices-to-prevent-pressure-injuries-among-wheelchair-users-via-weight-shifting
#17
W Ben Mortenson, Sarah C Thompson, Alison L Wright, Jeanette Boily, Kevin Waldorf, Sandy Leznoff
PURPOSE: The purpose of this study was to describe occupational therapy weight-shifting practices and explore recommended strategies for patients, healthcare staff, and family/caregivers across healthcare settings. DESIGN: Cross-sectional survey. SUBJECTS AND SETTING: Respondents included 97 currently practicing occupational therapists working in 5 main practice settings (ie, acute care, inpatient rehabilitation, outpatient rehabilitation, home and community care, and residential) from 9 out of 10 Canadian provinces...
May 2018: Journal of Wound, Ostomy, and Continence Nursing
https://www.readbyqxmd.com/read/29719987/strategies-to-avoid-replication-failure-with-evidence-based-prevention-interventions-case-examples-from-the-strengthening-families-program
#18
Karol L Kumpfer, Lawrence M Scheier, Jaynie Brown
Research has found disturbing long-term effects of poor parenting on children's behavioral health including addiction, delinquency, depression/anxiety, and poorer health as adults. Poor parenting practices thus contribute substantially to the health crisis in America. However, skilled, nurturing parents, or caretakers can help youth avoid these developmental problems. A number of family and parenting evidence-based interventions (EBIs) that teach parenting skills are now available for dissemination. Unfortunately, replications of EBIs do not always produce the original positive results...
January 1, 2018: Evaluation & the Health Professions
https://www.readbyqxmd.com/read/29719986/linking-the-medical-and-educational-home-to-support-children-with-autism-spectrum-disorder-practice-recommendations
#19
Jeffrey D Shahidullah, Gazi Azad, Katherine R Mezher, Maryellen Brunson McClain, Laura Lee McIntyre
Children with autism spectrum disorder (ASD) present with complex medical problems that are often exacerbated by a range of other intellectual and psychiatric comorbidities. These children receive care for their physical and mental health from a range of providers within numerous child-serving systems, including their primary care clinic, school, and the home and community. Given the longitudinal nature in which care is provided for this chronic disorder, it is particularly necessary for services and providers to coordinate their care to ensure optimal efficiency and effectiveness...
May 1, 2018: Clinical Pediatrics
https://www.readbyqxmd.com/read/29709055/interventions-for-investigating-and-identifying-the-causes-of-stillbirth
#20
REVIEW
Aleena M Wojcieszek, Emily Shepherd, Philippa Middleton, Glenn Gardener, David A Ellwood, Elizabeth M McClure, Katherine J Gold, Teck Yee Khong, Robert M Silver, Jan Jaap Hm Erwich, Vicki Flenady
BACKGROUND: Identification of the causes of stillbirth is critical to the primary prevention of stillbirth and to the provision of optimal care in subsequent pregnancies. A wide variety of investigations are available, but there is currently no consensus on the optimal approach. Given their cost and potential to add further emotional burden to parents, there is a need to systematically assess the effect of these interventions on outcomes for parents, including psychosocial outcomes, economic costs, and on rates of diagnosis of the causes of stillbirth...
April 30, 2018: Cochrane Database of Systematic Reviews
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