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https://www.readbyqxmd.com/read/28433926/discredited-legacy-stigma-and-familial-amyloid-polyneuropathy-in-northwestern-portugal
#1
Álvaro Mendes, Liliana Sousa, Jorge Sequeiros, Angus Clarke
RATIONALE: Genetic inherited conditions may result in feelings of stigmatisation, mainly because of visible physical appearance and its transmissibility to offspring. OBJECTIVE: This article reports accounts of stigmatisation from Portuguese patients affected by the inherited neurodegenerative disease, familial amyloid polyneuropathy (FAP), living in the largest cluster of patients worldwide. METHOD: We draw on semi-structured interviews conducted with individuals at-risk or affected by FAP, recruited through the national patients' association, about their experiences of stigmatisation related to the illness...
April 15, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28433462/-health-and-access-to-health-care-of-18-25%C3%A2-years-old-people-not-in-employment-education-or-training-neets-attending-the-french-missions-locales
#2
S Robert, S Lesieur, J Chastang, V Kergoat, J Dutertre, P Chauvin
BACKGROUND: In France, "missions locales" are public assistance units for young people aged 16-25 years not in employment, education or training (NEET). The health status of the more than 1.5 million young adults attending these units annually is unknown. The purpose of this study was to describe the health status and health care use of this population in comparison with the general population of the same age. METHODS: The Presaje survey was conducted in 2011 on a randomized sample of 1453 young adults aged 18-25 years who attended five "missions locales" in mainland France...
April 19, 2017: Revue D'épidémiologie et de Santé Publique
https://www.readbyqxmd.com/read/28432912/the-embodied-spaces-of-children-with-complex-care-needs-effects-on-the-social-realities-and-power-negotiations-of-families
#3
Roberta L Woodgate, Melanie Zurba, Marie Edwards, Jacquie D Ripat, Gina Rempel
This paper presents research findings that advance knowledge around the power and agency families with children with complex care needs (CCN). Our conceptual framework uses concepts from geography towards situating the experiences and social realities of family carers within the 'embodied space of care'. The data originate from a longitudinal qualitative study of Canadian families with children with CCN. Findings reveal that interactions and decision-making processes relating to health and everyday life were complex and socially interconnected, and emphasize the need for provisions for family-based decision-making and enhanced social inclusion of families and the importance of the renegotiation of power...
April 19, 2017: Health & Place
https://www.readbyqxmd.com/read/28432854/quality-of-death-rumination-and-posttraumatic-growth-among-bereaved-family-members-of-cancer-patients-in-home-palliative-care
#4
Kayo Hirooka, Hiroki Fukahori, Kanako Taku, Taisuke Togari, Asao Ogawa
OBJECTIVE: The current study was designed to test the hypothesis that quality of death (QOD) and intrusive and deliberate rumination are associated with posttraumatic growth (PTG) among bereaved family members of cancer patients in home palliative care. METHODS: Data were collected from 805 bereaved family members of cancer patients who died at home in Japan. We used a cross-sectional design and participants completed Good Death Inventory, Event-Related Rumination Inventory and PTG Inventory...
April 22, 2017: Psycho-oncology
https://www.readbyqxmd.com/read/28432645/efficacy-of-lomitapide-in-the-treatment-of-familial-homozygous-hypercholesterolemia-results-of-a-real-world-clinical-experience-in-italy
#5
Laura D'Erasmo, Angelo Baldassare Cefalù, Davide Noto, Antonina Giammanco, Maurizio Averna, Paolo Pintus, Paolo Medde, Giovanni Battista Vigna, Cesare Sirtori, Laura Calabresi, Chiara Pavanello, Marco Bucci, Carlo Sabbà, Patrizia Suppressa, Francesco Natale, Paolo Calabrò, Tiziana Sampietro, Federico Bigazzi, Francesco Sbrana, Katia Bonomo, Fulvio Sileo, Marcello Arca
INTRODUCTION: Homozygous familial hypercholesterolaemia (HoFH) is a rare form of inherited dyslipidemia resistant to conventional cholesterol-lowering medications so that lipoprotein apheresis (LA) is usually required. Lomitapide has been approved for the treatment of HoFH. The aim of this study was to evaluate the benefits of lomitapide in HoFH patients followed with the usual clinical care. METHODS: Clinical and biochemical data were retrospectively collected in 15 HoFH patients (10 with mutations in the LDLR gene and 5 in the LDLRAP1 gene) treated for at least 6 months with lomitapide in addition to lipid-lowering therapies (LLT) in different Lipid Clinics across Italy...
April 21, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28432063/a-realist-review-to-explore-how-low-income-pregnant-women-use-food-vouchers-from-the-uk-s-healthy-start-programme
#6
Heather Ohly, Nicola Crossland, Fiona Dykes, Nicola Lowe, Victoria Hall-Moran
OBJECTIVES: To explore how low-income pregnant women use Healthy Start food vouchers, the potential impacts of the programme, and which women might experience these impacts and why. DESIGN: A realist review. ELIGIBILITY CRITERIA FOR SELECTING STUDIES: Primary or empirical studies (of any design) were included if they contributed relevant evidence or insights about how low-income women use food vouchers from the Healthy Start (UK) or the Special Supplemental Nutrition Program for Women, Infants and Children (WIC) programmes...
April 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28431967/family-centered-prevention-ameliorates-the-association-between-adverse-childhood-experiences-and-prediabetes-status-in-young-black-adults
#7
Gene H Brody, Tianyi Yu, Edith Chen, Gregory E Miller
Individuals exposed to adverse childhood experiences (ACEs) are vulnerable to various health problems later in life. This study was designed to determine whether participation in an efficacious program to enhance supportive parenting would ameliorate the association between ACEs and prediabetes status at age 25. Rural African American parents and their 11-year-old children (N=390) participated in the Strong African American Families (SAAF) program or a control condition. Each youth at age 25 provided a total ACEs score and a blood sample from which overnight fasting glucose was assayed...
April 18, 2017: Preventive Medicine
https://www.readbyqxmd.com/read/28431908/implementation-of-a-person-centered-medical-care-model-in-a-skilled-nursing-facility-a-pilot-evaluation
#8
Kathleen Abrahamson, Jaclyn Myers, Arif Nazir
OBJECTIVES: The objective of this study was to evaluate the feasibility and impact of implementing a person-centered medical care model for post-acute care residents within a skilled nursing facility (SNF). DESIGN: A mixed-method (qualitative and quantitative) pilot evaluation. SETTING: An 89-bed SNF located within a large midwestern city. PARTICIPANTS: Forty SNF post-acute patients admitted to the facility during a 6-month period were enrolled in the pilot evaluation...
April 18, 2017: Journal of the American Medical Directors Association
https://www.readbyqxmd.com/read/28430567/how-should-clinicians-respond-to-medical-requests-from-clinician-family-members-of-patients
#9
Andrew Thurston
In the medical profession, receiving a request for medical management from a colleague is a routine experience. However, when the colleague is a family member of a patient and the desired or requested medical intervention is not medically indicated in the attending physician's view, the situation becomes more complicated. Ethical issues include respect for patient autonomy and social justice as well as nonmaleficence. Furthermore, interpersonal and professional relationships may be tested in this situation...
April 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/28429643/emergency-department-staff-priorities-for-improving-palliative-care-provision-for-older-people-a-qualitative-study
#10
Rebecca J Wright, Karen Lowton, Glenn Robert, Corita R Grudzen, Patricia Grocott
BACKGROUND: Emergency department-based palliative care services are increasing, but research to develop these services rarely includes input from emergency clinicians, jeopardizing the effectiveness of subsequent palliative care interventions. AIM: To collaboratively identify with emergency clinicians' improvement priorities for emergency department-based palliative care for older people. DESIGN: This was one component of an experience-based co-design project, conducted using semi-structured interviews and feedback sessions...
April 1, 2017: Palliative Medicine
https://www.readbyqxmd.com/read/28429620/physician-perspectives-on-decision-making-for-treatment-of-pediatric-sleep-disordered-breathing
#11
Emily F Boss, Anne R Links, Ron Saxton, Tina L Cheng, Mary Catherine Beach
Sleep-disordered breathing (SDB) is prevalent in children and most commonly treated by surgery with adenotonsillectomy. We aimed to learn physician perspectives of social and communication factors that influence decision making for treatment of pediatric SDB. Purposive sampling identified 10 physician key informants across disciplines and practice settings, who participated in semistructured interviews regarding SDB care experiences and communication with parents. Interviews were analyzed using directed qualitative content analysis...
April 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28429378/expanding-access-to-naloxone-for-family-members-the-massachusetts-experience
#12
Sarah M Bagley, Leah S Forman, Sarah Ruiz, Kevin Cranston, Alexander Y Walley
INTRODUCTION AND AIMS: The Massachusetts Department of Public Health Overdose Education and Naloxone Distribution Program provides overdose education and naloxone rescue kits to people at risk for overdose and bystanders, including family members. Using Massachusetts Department of Public Health data, the aims are to: (i) describe characteristics of family members who receive naloxone; (ii) identify where family members obtain naloxone; and (iii) describe characteristics of rescues by family members...
April 20, 2017: Drug and Alcohol Review
https://www.readbyqxmd.com/read/28429092/natural-history-of-men1-gep-net-single-center-experience-after-a-long-follow-up
#13
Francesco Giudici, Tiziana Cavalli, Francesca Giusti, Giorgio Gronchi, Giacomo Batignani, Francesco Tonelli, Maria Luisa Brandi
BACKGROUND: The multiple endocrine neoplasia type 1 syndrome (MEN1) natural history is poorly evaluated, and few single-institution experiences about hereditary gastroenteropancreatic neuroendocrine tumors (GEP-NET) are reported. Our purpose is to analyze the role of GEP-NET in MEN1-related death, as well as the behavior of these lesions during follow-up. METHODS: The study population consists of 77 patients diagnosed with MEN1 GEP-NET, regularly followed up since 1990...
April 20, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28429057/characterisation-of-three-fungal-glucuronoyl-esterases-on-glucuronic-acid-ester-model-compounds
#14
Silvia Hüttner, Sylvia Klaubauf, Ronald P de Vries, Lisbeth Olsson
The glucuronoyl esterases (GEs) that have been identified so far belong to family 15 of the carbohydrate esterases in the CAZy classification system and are presumed to target ester bonds between lignin alcohols and (4-O-methyl-)D-glucuronic acid residues of xylan. Few GEs have been cloned, expressed and characterised to date. Characterisation has been done on a variety of synthetic substrates; however, the number of commercially available substrates is very limited. We identified novel putative GEs from a wide taxonomic range of fungi and expressed the enzymes originating from Acremonium alcalophilum and Wolfiporia cocos as well as the previously described PcGE1 from Phanerochaete chrysosporium...
April 20, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28428796/expression-profiling-coupled-with-in-silico-mapping-identifies-candidate-genes-for-reducing-aflatoxin-accumulation-in-maize
#15
Ramesh Dhakal, Chenglin Chai, Ratna Karan, Gary L Windham, William P Williams, Prasanta K Subudhi
Aflatoxin, produced by Aspergillus flavus, is hazardous to health of humans and livestock. The lack of information about large effect QTL for resistance to aflatoxin accumulation is a major obstacle to employ marker-assisted selection for maize improvement. The understanding of resistance mechanisms of the host plant and the associated genes is necessary for improving resistance to A. flavus infection. A suppression subtraction hybridization (SSH) cDNA library was made using the developing kernels of Mp715 (resistant inbred) and B73 (susceptible inbred) and 480 randomly selected cDNA clones were sequenced to identify differentially expressed genes (DEGs) in response to A...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28428253/twitchin-kinase-inhibits-muscle-activity
#16
Yohei Matsunaga, Hyundoo Hwang, Barbara Franke, Rhys Williams, McKenna Penley, Hiroshi Qadota, Hong Yi, Levi T Morran, Hang Lu, Olga Mayans, Guy M Benian
Muscle sarcomeres contain giant polypeptides composed of multiple immunoglobulin and fibronectin domains and one or two protein kinase domains. Although binding partners for a number of this family's kinase domains have been identified, the catalytic necessity of these kinase domains remains unknown. In addition, various members of this kinase family are suspected pseudokinases with no, or little, activity. Here, we address catalytic necessity for the first time using the prototypic invertebrate representative twitchin (UNC-22) from C...
April 20, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28428245/thematic-analysis-of-us-stakeholder-views-on-the-influence-of-labour-nurses-care-on-birth-outcomes
#17
Audrey Lyndon, Kathleen Rice Simpson, Joanne Spetz
BACKGROUND: Childbirth is a leading reason for hospital admission in the USA, and most labour care is provided by registered nurses under physician or midwife supervision in a nurse-managed care model. Yet, there are no validated nurse-sensitive quality measures for maternity care. We aimed to engage primary stakeholders of maternity care in identifying the aspects of nursing care during labour and birth they believe influence birth outcomes, and how these aspects of care might be measured...
April 20, 2017: BMJ Quality & Safety
https://www.readbyqxmd.com/read/28427479/mainstreaming-gender-and-promoting-intersectionality-in-papua-new-guinea-s-health-policy-a-triangulated-analysis-applying-data-mining-and-content-analytic-techniques
#18
G Lamprell, J Braithwaite
BACKGROUND: Gender mainstreaming is an approach to policy and planning that emphasizes equality between the sexes. It is the stated policy for gender equity in Papua New Guinea's (PNG) health sector, as well as all other sectors, and is enshrined in the policies of its biggest aid givers. However, there is criticism that gender mainstreaming's application has too often been technocratic and lacking in conceptual clarity not only in PNG but elsewhere. In the health sector this is further exacerbated by a traditional bio-medical approach, which is often paternalistic and insufficiently patient- and family-centered...
April 20, 2017: International Journal for Equity in Health
https://www.readbyqxmd.com/read/28427444/interventions-to-reduce-wait-times-for-primary-care-appointments-a-systematic-review
#19
Dominique Ansell, James A G Crispo, Benjamin Simard, Lise M Bjerre
BACKGROUND: Accessibility and availability are important characteristics of efficient and effective primary healthcare systems. Currently, timely access to a family physician is a concern in Canada. Adverse outcomes are associated with longer wait times for primary care appointments and often leave individuals to rely on urgent care. When wait times for appointments are too long patients may experience worse health outcomes and are often left to use emergency department resources. The primary objective of our study was to systematically review the literature to identify interventions designed to reduce wait times for primary care appointments...
April 20, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28427417/novel-trigenic-cacna1c-des-mypn-mutations-in-a-family-of-hypertrophic-cardiomyopathy-with-early-repolarization-and-short-qt-syndrome
#20
Yanhong Chen, Hector Barajas-Martinez, Dongxiao Zhu, Xihui Wang, Chonghao Chen, Ruijuan Zhuang, Jingjing Shi, Xueming Wu, Yijia Tao, Weidong Jin, Xiaoyan Wang, Dan Hu
BACKGROUND: Hypertrophic cardiomyopathy (HCM) patients with early repolarization (ER) pattern are at higher risk of ventricular arrhythmia, yet the genetic background of this situation has not been well investigated. Here we report novel trigenic mutations detected in a Chinese family of obstructive HCM with ER and short QT syndrome (SQTS). METHODS: Proband and family members underwent detailed medical assessments. DNAs were extracted from peripheral blood leukocytes for genetic screening with next generation method...
April 20, 2017: Journal of Translational Medicine
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