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https://www.readbyqxmd.com/read/28551919/-utilization-of-whole-exome-sequencing-in-diagnostics-of-genetic-disease-rabin-medical-center-s-experience
#1
Lior Cohen, Naama Orenstein, Monica Weisz-Hubshman, Lily Bazak, Bella Davidov, Eyal Reinstein, Shay Tzur, Doron Behar, Pola Smirin-Yosef, Mali Salmon-Divon, Amit Gross, Mordechai Shohat, Lina Basel-Vanagaite
INTRODUCTION: Whole exome sequencing is a diagnostic approach for the identification of molecular etiology in patients with suspected monogenic diseases. In this article we report on our experience with whole-exome sequencing (WES) of DNA samples taken from patients referred for genetic evaluation due to suspected undiagnosed genetic conditions. METHODS: Exome enrichment was achieved by Nextera Rapid Capture Expanded Exome Kit. Whole-exome sequencing was performed on Illumina HiSeq 2500...
April 2017: Harefuah
https://www.readbyqxmd.com/read/28551458/maternal-substance-use-and-child-protection-a-rapid-evidence-assessment-of-factors-associated-with-loss-of-child-care
#2
REVIEW
Martha Canfield, Polly Radcliffe, Sally Marlow, Marggie Boreham, Gail Gilchrist
This article reviews the literature on the factors associated with mothers who use substances losing care of their children. A rapid evidence assessment was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta Analyses. Medline and PsycINFO databases were searched to identify primary research studies published in English during January 2000-September 2016. Studies were included if they presented individual, formal support (e.g., receiving substance use treatment) or informal support (e...
May 25, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28550996/web-based-health-interventions-for-family-caregivers-of-elderly-individuals-a-scoping-review
#3
REVIEW
Marina B Wasilewski, Jennifer N Stinson, Jill I Cameron
BACKGROUND: For the growing proportion of elders globally, aging-related illnesses are primary causes of morbidity causing reliance on family members for support in the community. Family caregivers experience poorer physical and mental health than their non-caregiving counterparts. Web-based interventions can provide accessible support to family caregivers to offset declines in their health and well-being. Existing reviews focused on web-based interventions for caregivers have been limited to single illness populations and have mostly focused on the efficacy of the interventions...
July 2017: International Journal of Medical Informatics
https://www.readbyqxmd.com/read/28550993/barriers-to-pcsk9-inhibitor-prescriptions-for-patients-with-high-cardiovascular-risk-results-of-a-healthcare-provider-survey-conducted-by-the-national-lipid-association
#4
Jerome D Cohen, Mark J Cziraky, Terry A Jacobson, Kevin C Maki, Dean G Karalis
BACKGROUND: Statin therapy is recommended for reducing atherosclerotic cardiovascular disease (ASCVD) risk. Significant risk can remain because of insufficient clinical response or statin intolerance. Proprotein convertase subtilisin/kexin type-9 (PCSK9) therapy lowers low-density lipoprotein cholesterol and has recently been shown to lower ASCVD events. OBJECTIVE: The aim of the study was to assess the barriers and challenges experienced with the access and approval reimbursement process for PCSK9 inhibitor prescriptions...
May 23, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28550704/integrating-engagement-and-improvement-work-in-a-pediatric-hospital
#5
Mireille Brosseau, Diane Gagnon, Kristina Rohde, Jennifer Schellinck
Although geared towards a common goal - improved patient-centred care - quality improvement strategies and patient engagement-focused approaches are often developed and conducted in silos. The lack of integration may lead, on the one hand, to the uptake of patient suggestions that do not always take into consideration implications for the delivery of quality care and, on the other hand, to inadequate understanding of patient views required to create optimal services. The Children's Hospital of Eastern Ontario (CHEO)'s action plans to address gaps in patient engagement and quality improvement, two of its priority areas, were initially carried out in isolation of each other...
2017: Healthcare Quarterly
https://www.readbyqxmd.com/read/28550703/improving-patient-engagement-and-satisfaction-lessons-from-a-patient-driven-care-initiative-in-a-community-based-hospital
#6
Lisa Shiozaki, Kirsten Burgomaster, Manon Lemonde
Lack of collaboration and alignment between members of the healthcare team interfere with the patient-centred care approach. The Patient-Driven Care Project was initiated in 2012. This model sought to advance a system of care that is patient-driven, family-centred and provider-guided to improve the value to patients and give them more control on their health journey. The evaluation revealed that the efforts should focus on sustainability and continuation of support and encouragement of hospital colleagues to ensure each patient and family experience is based on caring communication at every interaction with them...
2017: Healthcare Quarterly
https://www.readbyqxmd.com/read/28550605/high-throughput-snp-genotyping-of-modern-and-wild-emmer-wheat-for-yield-and-root-morphology-using-a-combined-association-and-linkage-analysis
#7
Stuart J Lucas, Ayten Salantur, Selami Yazar, Hikmet Budak
Durum wheat (Triticum turgidum var. durum Desf.) is a major world crop that is grown primarily in areas of the world that experience periodic drought, and therefore, breeding climate-resilient durum wheat is a priority. High-throughput single nucleotide polymorphism (SNP) genotyping techniques have greatly increased the power of linkage and association mapping analyses for bread wheat, but as yet there is no durum wheat-specific platform available. In this study, we evaluate the new 384HT Wheat Breeders Array for its usefulness in tetraploid wheat breeding by genotyping a breeding population of F6 hybrids, derived from multiple crosses between T...
May 26, 2017: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/28550505/neuro-oncology-family-caregivers-view-on-keeping-track-of-care-issues-using-ehealth-systems-it-s-a-question-of-time
#8
Florien W Boele, Cornelia F van Uden-Kraan, Karen Hilverda, Jason Weimer, Heidi S Donovan, Jan Drappatz, Frank S Lieberman, Irma Verdonck-de Leeuw, Paula R Sherwood
Primary brain tumors (PBTs) are rare but have a great impact on both patient and family caregiver wellbeing. Supporting caregivers can help them to continue their caregiving activities to maintain the patients' best possible level of quality of life. Efforts to improve PBT caregiver wellbeing should take into account country- or culture-specific differences in care issues and supportive care needs to serve larger caregiver groups. We aimed to explore PBT caregivers' satisfaction with the current supportive care provision, as well as their thoughts on monitoring their care issues with both paper-based and digital instruments...
May 26, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28550483/-it-s-just-horrible-a-qualitative-study-of-patients-and-carers-experiences-of-bowel-dysfunction-in-multiple-sclerosis
#9
Lesley Dibley, Maureen Coggrave, Doreen McClurg, Sue Woodward, Christine Norton
Around 50% of people with multiple sclerosis (MS) experience neurogenic bowel dysfunction (constipation and/or faecal incontinence), reducing quality of life and increasing carer burden. No previous qualitative studies have explored the experiences of bowel problems in people with MS, or the views of their family carers. This study sought to understand 'what it is like' to live with bowel dysfunction and the impact this has on people with MS and carers. Using exploratory qualitative methods, 47 semi-structured interviews were conducted with participants recruited from specialist hospital clinics and community sources using purposive and chain-referral sampling...
May 26, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28550383/-you-can-carry-the-torch-now-a-qualitative-analysis-of-parents-experiences-caring-for-a-child-with-trisomy-13-or-18
#10
Joshua D Arthur, Divya Gupta
Trisomy 13 and 18 (T 13/18) are rare chromosomal abnormalities associated with high morbidity and mortality. Improved survival rates and increased prevalence of aggressive medical intervention have resulted in families and physicians holding different perspectives regarding the appropriate management of children with T 13/18. Families were invited for open-ended interviews regarding their experiences with the medical care of a child with T 13/18 over the past 5 years. Seven of 33 invited families were surveyed; those who had spent more than 40 days in the hospital were most likely to accept the invitation (OR 8...
May 26, 2017: HEC Forum: An Interdisciplinary Journal on Hospitals' Ethical and Legal Issues
https://www.readbyqxmd.com/read/28550044/t-cells-lacking-hdac11-have-increased-effector-functions-and-mediate-enhanced-alloreactivity-in-a-murine-model
#11
David M Woods, Karrune V Woan, Fengdong Cheng, Andressa L Sodré, Dapeng Wang, Yongxia Wu, Zi Wang, Jie Chen, John Powers, Javier Pinilla-Ibarz, Yu Yu, Ya Zhang, Xuefeng Wu, Xiaoyan Zheng, Jeffrey Weber, Wayne Hancock, Edward Seto, Alejandro Villagra, Xue-Zhong Yu, Eduardo M Sotomayor
Histone acetylation and the families of enzymes responsible for controlling these epigenetic marks have been implicated in regulating T-cell maturation and phenotype. Here, we demonstrate a previously undefined role of histone deacetylase 11 (HDAC11) in regulating T-cell effector functions. Using EGFP-HDAC11 transgenic reporter mice, we found that HDAC11 expression was lower in effector relative to naïve and central memory T-cell populations, and activation of resting T-cells resulted in its decreased expression...
May 26, 2017: Blood
https://www.readbyqxmd.com/read/28549409/a-qualitative-study-of-immigrant-women-on-long-term-sick-leave-and-their-experience-of-dignity
#12
Line Nortvedt, Bernadette Nirmal Kumar, Vibeke Lohne
PURPOSE: The purpose of this study was to explore if and how immigrant women suffering from chronic pain experience and maintain their dignity, during rehabilitation. METHODS: The study was designed as a field study, with participant observation and in-depth interviews. Participant observations were carried out during a rehabilitation course for 14 immigrant women on an outpatient clinic at a rehabilitation hospital in southern Norway. In-depth interviews were performed after the rehabilitation period...
May 26, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28548917/family-experiences-of-the-transition-to-palliative-care-in-aged-residential-care-arc-a-qualitative-study
#13
Rosemary Frey, Susan Foster, Michal Boyd, Jackie Robinson, Merryn Gott
PURPOSE: To address a gap in the literature by exploring bereaved families' perceptions of the transition to palliative care for their relative in long-term care. METHODS: In-depth interviews were conducted with a convenience sample of twenty-six family members who were most involved in the care of residents who had died within the last 12 months. Interviews explored care, perceptions of staff palliative care knowledge, communication with staff, care planning and decision-making...
May 2, 2017: International Journal of Palliative Nursing
https://www.readbyqxmd.com/read/28547746/the-support-needs-of-parents-having-a-child-with-a-chronic-kidney-disease-a-focus-group-study
#14
W W Geense, B G I van Gaal, J L Knoll, E A M Cornelissen, T van Achterberg
BACKGROUND: Parents of children with a chronic kidney disease (CKD) have a crucial role in the management of their child's disease. The burden on parents is high: they are often exhausted, depressed and experience high levels of stress and a low quality of life, which could have a negative impact on their child's health outcomes. Support aiming at preventing and reducing parental stress is essential. Therefore, it is necessary to have insight in the problems and support needs among these parents...
May 25, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28547664/-it-was-a-lot-tougher-than-i-thought-it-would-be-a-qualitative-study-on-the-changing-nature-of-being-a-hemophilia-carrier
#15
Charlotte von der Lippe, Jan C Frich, Anna Harris, Kari Nyheim Solbrække
Studies on carriers of genetic disorders mainly focus on the process of genetic testing and reproductive choices, and less on how psychosocial aspects of being a carrier change over time. Our study sought to understand more about the psychosocial aspects of hemophilia carrier status, and thereby improve counseling aiming to advance carriers' quality of life and well-being. We analyzed 16 in-depth interviews from women who were carriers of hemophilia and had a son with hemophilia. Three themes emerged: Guilt and sorrow across generations; the choices and future consequences of genetic testing; and preparing to have a child with hemophilia...
May 26, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28547630/distinguishing-family-from-friends-implicit-cognitive-differences-regarding-general-dispositions-attitude-similarity-and-group-membership
#16
Rick O'Gorman, Ruth Roberts
Kinship and friendship are key human relationships. Increasingly, data suggest that people are not less altruistic toward friends than close kin. Some accounts suggest that psychologically we do not distinguish between them; countering this is evidence that kinship provides a unique explanatory factor. Using the Implicit Association Test, we examined how people implicitly think about close friends versus close kin in three contexts. In Experiment 1, we examined generic attitudinal dispositions toward friends and family...
May 25, 2017: Human Nature: An Interdisciplinary Biosocial Perspective
https://www.readbyqxmd.com/read/28547268/primary-care-providers-experience-management-and-referral-patterns-regarding-pelvic-floor-disorders-a-national-survey
#17
Donna Mazloomdoost, Catrina C Crisp, Steven D Kleeman, Rachel N Pauls
INTRODUCTION AND HYPOTHESIS: Primary care physicians can impact womens' access to care. We assessed primary care providers' experience and management regarding pelvic floor disorders. METHODS: This Institutional Review Board approved study invited internal and family Medicine Program Directors to complete and distribute to faculty an online survey designed to query demographics, perceptions, management, and referral patterns regarding urinary incontinence (UI), overactive bladder (OAB), and pelvic organ prolapse (POP) in females...
May 25, 2017: International Urogynecology Journal
https://www.readbyqxmd.com/read/28546885/a-prospective-study-of-adolescents-sexual-partnerships-on-emerging-adults-relationship-satisfaction-and-intimate-partner-aggression
#18
Monica A Longmore, Wendy D Manning, Jennifer E Copp, Peggy C Giordano
We examined whether the influence of adolescents' sexual partnerships, both dating and casual, carried over to affect emerging adults' relationship satisfaction and experiences of intimate partner aggression. Analyses of longitudinal data from the Toledo Adolescent Relationships Study (n = 294) showed that net of control variables (delinquency, depression, family violence, relational and sociodemographic characteristics), adolescents' number of dating, but not casual, sexual partners led to greater odds of intimate partner aggression during emerging adulthood...
December 2016: Emerging Adulthood
https://www.readbyqxmd.com/read/28546453/familial-caregiver-and-physician-perceptions-of-the-family-physician-interactions-during-interfacility-transfers
#19
Jennifer L Rosenthal, Su-Ting T Li, Lenore Hernandez, Michelle Alvarez, Roberta S Rehm, Megumi J Okumura
BACKGROUND AND OBJECTIVES: Children with special health care needs (CSHCN) have frequent hospitalizations and high specialty care utilization. If they initially present to a medical facility not capable of providing their definitive care, these children often experience an interfacility transfer. This transition has potential to impose hardships on familial caregivers. The goal of this study was to explore family-physician interactions during interfacility transfers from the perspectives of referring and accepting physicians and familial caregivers, and then develop a conceptual model for effective patient- and family-centered interfacility transfers that leverages the family-physician interaction...
May 25, 2017: Hospital Pediatrics
https://www.readbyqxmd.com/read/28545578/the-effect-of-a-mindfulness-based-intervention-in-cognitive-functions-and-psychological-well-being-applied-as-an-early-intervention-in-schizophrenia-and-high-risk-mental-state-in-a-chilean-sample-study-protocol-for-a-randomized-controlled-trial
#20
Álvaro I Langer, Carlos Schmidt, Rocío Mayol, Marcela Díaz, Javiera Lecaros, Edwin Krogh, Aída Pardow, Carolina Vergara, Guillermo Vergara, Bernardita Pérez-Herrera, María José Villar, Alejandro Maturana, Pablo A Gaspar
BACKGROUND: According to the projections of the World Health Organization, 15% of all disabilities will be associated with mental illnesses by 2020. One of the mental disorders with the largest social impacts due to high personal and family costs is psychosis. Among the most effective psychological approaches to treat schizophrenia and other psychotic disorders at the world level is cognitive behavioral therapy. Recently, cognitive behavioral therapy has introduced several tools and strategies that promote psychological processes based on acceptance and mindfulness...
May 25, 2017: Trials
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