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Patient and family involvement

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https://www.readbyqxmd.com/read/28231606/user-participation-is-a-family-matter-a-multiple-case-study-of-the-experiences-of-older-hospitalized-people-and-their-relatives
#1
Ingrid Nyborg, Lars Johan Danbolt, Marit Kirkevold
AIMS AND OBJECTIVES: The purpose of this multiple case study was to compare and contrast older people's and their relatives' experiences of participation in decision-making processes regarding the planning of everyday life after discharge from hospital. BACKGROUND: Internationally, patient involvement in health services is established to benefit patient health and to improve quality of the services. The literature shows that at hospital discharge older people would benefit from better communication and more active participation of relatives in the discharge planning...
February 23, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28231309/improving-molecular-diagnosis-of-aniridia-and-wagr-syndrome-using-customized-targeted-array-based-cgh
#2
Fiona Blanco-Kelly, María Palomares, Elena Vallespín, Cristina Villaverde, Rubén Martín-Arenas, Camilo Vélez-Monsalve, Isabel Lorda-Sánchez, Julián Nevado, María José Trujillo-Tiebas, Pablo Lapunzina, Carmen Ayuso, Marta Corton
Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplification (MLPA) and karyotyping. However, neither of these approaches allow obtaining a complete picture of the high complexity of chromosomal deletions and breakpoints in aniridia. Here, we report the development and validation of a customized targeted array-based comparative genomic hybridization, so called WAGR-array, for comprehensive high-resolution analysis of CNV in the WAGR locus...
2017: PloS One
https://www.readbyqxmd.com/read/28231285/the-mother-s-autonomy-in-decision-making-madm-scale-patient-led-development-and-psychometric-testing-of-a-new-instrument-to-evaluate-experience-of-maternity-care
#3
Saraswathi Vedam, Kathrin Stoll, Kelsey Martin, Nicholas Rubashkin, Sarah Partridge, Dana Thordarson, Ganga Jolicoeur
OBJECTIVE: To develop and validate a new instrument that assesses women's autonomy and role in decision making during maternity care. DESIGN: Through a community-based participatory research process, service users designed, content validated, and administered a cross-sectional quantitative survey, including 31 items on the experience of decision-making. SETTING AND PARTICIPANTS: Pregnancy experiences (n = 2514) were reported by 1672 women who saw a single type of primary maternity care provider in British Columbia...
2017: PloS One
https://www.readbyqxmd.com/read/28229991/a-novel-mutation-in-the-pyrin-domain-of-the-nod-like-receptor-family-pyrin-domain-containing-protein-3-in-muckle-wells-syndrome
#4
Jian Hu, Yun Zhu, Jian-Zhong Zhang, Rong-Guang Zhang, Hou-Min Li
BACKGROUND: Cryopyrin-associated periodic syndrome (CAPS) is a group of rare, heterogeneous autoinflammatory disease characterized by interleukin (IL)-1β-mediated systemic inflammation and clinical symptoms involving skin, joints, central nervous system, and eyes. It encompasses a spectrum of three clinically overlapping autoinflammatory syndromes including familial cold autoinflammatory syndrome, Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease. CAPS is associated with gain-of-function missense mutations in NOD-like receptor family pyrin domain-containing protein 3 (NLRP3), the gene encoding NLRP3...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28229934/novel-and-functional-atg12-gene-variants-in-sporadic-parkinson-s-disease
#5
Yuequn Li, Jian Huang, Shuchao Pang, Haihua Wang, Aimei Zhang, Robert G Hawley, Bo Yan
Parkinson's disease (PD) is a common and progressive neurodegenerative disease, including familial and sporadic cases. To date, genetic causes for sporadic PD, majority of PD cases, remain largely unknown. Accumulating evidence indicates that dysfunctional autophagy, a highly conserved cellular process, is involved in the PD pathogenesis. We speculated that changed expression levels of autophagy-related genes (ATG) may contribute to PD development. Previously, we have genetically analyzed ATG5 and ATG7 genes in sporadic PD patients and identified several functional DNA sequence variants (DSVs)...
February 13, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28229546/lessons-from-the-past-family-involvement-in-patient-admission-and-discharge-beechworth-lunatic-asylum-1900-1912
#6
Eileen Clark
In this study, document analysis is used to examine case books from the Beechworth Lunatic Asylum with the aim of determining the extent of family involvement in patients' admission and discharge. There were 420 male and 278 female patients admitted in the study period, with over half transferred from other Victorian asylums. Next of kin were identified for 64% of male and 84% of female patients. Families were involved in the admission of 52 (12%) male and 50 (18%) female patients, usually by bringing patients to the asylum or providing evidence of behavioural changes...
February 23, 2017: International Journal of Mental Health Nursing
https://www.readbyqxmd.com/read/28229161/high-levels-of-latent-antithrombin-in-plasma-from-patients-with-antithrombin-deficiency
#7
María de la Morena-Barrio, Edna Sandoval, Pilar Llamas, Ewa Wypasek, Mara Toderici, José Navarro-Fernández, Agustín Rodríguez-Alen, Nuria Revilla, Raquel López-Gálvez, Antonia Miñano, José Padilla, Belén de la Morena-Barrio, Jorge Cuesta, Javier Corral, Vincente Vincente
Antithrombin is an anticoagulant serpin that efficiently inhibits multiple procoagulant proteases. The cost for the structural flexibility required for this function is the vulnerability to mutations that impact its folding pathway. Most conformational mutations identified in serpins cause polymerisation. Only three mutations in SERPINC1 affecting two residues have been found to favour transformation to the latent conformation of antithrombin, another hyperstable non-anticoagulant form with strong antiangiogenic activity that constitutes 3 % of plasma antithrombin in healthy subjects...
February 23, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28228588/investigation-of-the-role-of-protein-kinase-d-in-human-rhinovirus-replication
#8
Anabel Guedán, Dawid Swieboda, Mark Charles, Marie Toussaint, Sebastian L Johnston, Amin Asfor, Anusha Panjwani, Tobias J Tuthill, Henry Danahay, Tony Raynham, Aurelie Mousnier, Roberto Solari
Picornavirus replication is known to cause extensive remodelling of Golgi and endoplasmic reticulum membranes and a number of the host proteins involved in the viral replication complex have been identified, including oxysterol binding protein (OSBP) and phosphatidylinositol 4-kinase III beta (PI4KB). Since both OSBP and PI4KB are substrates for protein kinase D (PKD) and PKD is known to be involved in the control of Golgi vesicular and lipid transport, we hypothesised that PKD played a role in viral replication...
February 22, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28226493/towards-an-unsupervised-device-for-the-diagnosis-of-childhood-pneumonia-in-low-resource-settings-automatic-segmentation-of-respiratory-sounds
#9
J Sola, F Braun, E Muntane, C Verjus, M Bertschi, F Hugon, S Manzano, M Benissa, A Gervaix, J Sola, F Braun, E Muntane, C Verjus, M Bertschi, F Hugon, S Manzano, M Benissa, A Gervaix, F Hugon, C Verjus, A Gervaix, S Manzano, M Bertschi, E Muntane, M Benissa, J Sola, F Braun
Pneumonia remains the worldwide leading cause of children mortality under the age of five, with every year 1.4 million deaths. Unfortunately, in low resource settings, very limited diagnostic support aids are provided to point-of-care practitioners. Current UNICEF/WHO case management algorithm relies on the use of a chronometer to manually count breath rates on pediatric patients: there is thus a major need for more sophisticated tools to diagnose pneumonia that increase sensitivity and specificity of breath-rate-based algorithms...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226328/a-de-novo-pericentric-inversion-in-chromosome-4-associated-with-disruption-of-pitx2-and-a-microdeletion-in-4p15-2-in-a-patient-with-axenfeld-rieger-syndrome-and-developmental-delay
#10
Živilė Maldžienė, Eglė Preikšaitienė, Salomėja Ignotienė, Natalija Kapitanova, Algirdas Utkus, Vaidutis Kučinskas
Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of autosomal dominantly inherited malformations that predominantly affect the eye but are also associated with craniofacial dysmorphism and dental abnormalities. A broad spectrum of genetic alterations involving PITX2 and FOXC1 lead to ARS. We report on a 4-year-old girl with clinical features of ARS and developmental delay due to a de novo apparently balanced pericentric inversion in chromosome 4. This report emphasizes that complementary investigations are necessary to precisely characterize chromosomal rearrangements...
February 23, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28226051/discourses-on-short-coursetherapy-for-tuberculosis-control
#11
Fernando Mitano, Amélia Nunes Sicsú, Mônica Cristina Ribeiro Alexandre D Auria de Lima, Rarianne Carvalho Peruhype, Simone Terezinha Protti, Pedro Fredemir Palha
Objective: to analyze the meanings produced through the experiences and perceptions of healthcare professionals on the implementation of the strategy of directly observed treatment short course for tuberculosis control. Method: qualitative study carried out in Mozambique with 15 healthcare professionals. Inclusion criteriawerehaving acted in the Tuberculosis Control Program for more than one year, and exercising professional activity at the time of interview. A semi-structured script was used for data collection, and individual interviews were recorded...
January 2017: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/28225881/zinc-and-metalloproteinases-2-and-9-what-is-their-relation-with-breast-cancer
#12
Aldenora Oliveira do Nascimento Holanda, Ana Raquel Soares de Oliveira, Kyria Jayanne Clímaco Cruz, Juliana Soares Severo, Jennifer Beatriz Silva Morais, Benedito Borges da Silva, Dilina do Nascimento Marreiro
Zinc is the catalytic component of proteins that regulate responses to DNA damage, intracellular signaling enzymes, and matrix metalloproteinases, which are important proteins in carcinogenesis. The objective of this review is to bring current information on the participation of zinc and matrix metalloproteinases types 2 and 9 in mechanisms involved in the pathogenesis of breast cancer. We conducted a literature review, in consultation with the PubMed, Lilacs, and Scielo databases. The zinc and cysteine residues are structural elements shared by all members of the family of matrix metalloproteinases, and these proteins appear to be involved in the propagation of various types of neoplasms, including breast cancer...
January 1, 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28225726/computer-assisted-retinal-vessel-tortuosity-evaluation-in-novel-mutation-fabry-disease-towards-new-prognostic-markers
#13
Irene San Román, María-Elena Rodríguez, Orsola Caporossi, Claudia Zoppetti, Andrea Sodi, Alessandro Mecocci, David López, Beatriz Rodríguez, Juan-Ramón Gimeno
PURPOSE: Fabry disease is a rare lysosomal storage disorder with systemic involvement. The authors report on a large Fabry family with GLA p.M187R mutation and exhaustive ophthalmologic assessment. METHODS: Comprehensive systemic evaluation and genetic diagnosis were performed. Ophthalmologic evaluation included intraocular pressure/visual acuity measurement, refractometry, slit lamp examination, retinography, and optical coherence tomography. Three parameters quantified retinal vessel tortuosity: sum of angle metrics, product of angle distance, and triangular index...
March 2017: Retina
https://www.readbyqxmd.com/read/28224461/zinc-the-other-suspected-environmental-factor-in-kashin-beck-disease-in-addition-to-selenium
#14
REVIEW
Xi Wang, Yujie Ning, Lei Yang, Fangfang Yu, Xiong Guo
Kashin-Beck disease (KBD) is an endemic chronic osteochondral disease characterized by high prevalence, disability, and morbidity and is distributed from the northeast to the southwest in China, in some regions of Eastern Siberia in Russia, and in North Korea. Although the selenium deficiency etiological hypothesis for KBD has been proposed by scientists for decades, the idea that selenium deficiency is one of the most important environmental factors but not the primary and sole pathogenic factor for KBD has been widely accepted...
February 21, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/28222189/molecular-epidemiology-of-mycobacterium-tuberculosis-complex-in-brussels-2010-2013
#15
Christelle Vluggen, Karine Soetaert, Guido Groenen, Maryse Wanlin, Martine Spitaels, Wouter Arrazola de Oñate, Maryse Fauville-Dufaux, Claude Saegerman, Vanessa Mathys
The tuberculosis (TB) incidence rate in Brussels-Capital Region is 3-fold higher than in Belgium as a whole. Eight years after the realization of initial prospective population-based molecular epidemiology investigations in this Region, a similar study over the period 2010-2013 was conducted. TB strains isolated from 945 patients were submitted to genotyping by standardized 24-locus-MIRU-VNTR typing and spoligotyping. The phylogenetic analysis showed that the LAM (16.7%) and Haarlem (15.7%) branches are the two most prevalent TB lineages circulating in Brussels...
2017: PloS One
https://www.readbyqxmd.com/read/28221248/early-transcriptomic-changes-in-the-ileal-pouch-provide-insight-into-the-molecular-pathogenesis-of-pouchitis-and-ulcerative-colitis
#16
Yong Huang, Sushila Dalal, Dionysios Antonopoulos, Nathaniel Hubert, Laura H Raffals, Kyle Dolan, Christopher Weber, Jeannette S Messer, Bana Jabri, Albert Bendelac, A Murat Eren, David T Rubin, Mitch Sogin, Eugene B Chang
BACKGROUND: Ulcerative colitis (UC) only involves the colonic mucosa. Yet, nearly 50% of patients with UC who undergo total proctocolectomy with ileal pouch anal anastomosis develop UC-like inflammation of the ileal pouch (pouchitis). By contrast, patients with familial adenomatous polyposis (FAP) with ileal pouch anal anastomosis develop pouchitis far less frequently. We hypothesized that pathogenic events associated with the development of UC are recapitulated by colonic-metaplastic transcriptomic reprogramming of the UC pouch...
March 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28220406/lysosomal-acid-lipase-deficiency-in-23-spanish-patients-high-frequency-of-the-novel-c-966-2t-g-mutation-in-wolman-disease
#17
Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort
Lysosomal acid lipase (LAL) is a lysosomal key enzyme involved in the intracellular hydrolysis of cholesteryl esters and triglycerides. Patients with very low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some residual activity develop the less severe disorder known as Cholesteryl ester storage disorder (CESD). We present the clinical, biochemical, and molecular findings of 23 Spanish patients (22 families) with LAL deficiency. We identified eight different mutations, four of them not previously reported...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28220308/aberrant-expression-of-cdk8-regulates-the-malignant-phenotype-and-associated-with-poor-prognosis-in-human-laryngeal-squamous-cell-carcinoma
#18
MingHua Li, XiaoDan Zhao, Ying Liu, Jun An, Hui Xiao, Chao Wang
CDK8, a member of the transcriptional subtype of the cyclin-dependent kinases (CDKs) family, shows remarkable cancer tissue specific expression profile and rather more selective contribution to the regulation of gene expression levels involved in some signaling pathways. However, the effect of CDK8 on the malignant phenotype of human laryngeal squamous cell carcinoma (LSCC) cells and the potential molecular mechanisms remain unclear. In the present study, we evaluated the expression levels of CDK8 by quantitative real-time reverse-transcriptase polymerase chain reaction (qRT-PCR) and immunohistochemistry in tissue samples of 60 LSCC patients...
February 20, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28219966/the-child-witness-in-the-courtroom
#19
Robert H Pantell
Beginning in the 1980s, children have increasingly served as witnesses in the criminal, civil, and family courts; currently, >100 000 children appear in court each year. This statement updates the 1992 American Academy of Pediatrics (AAP) policy statement "The Child as a Witness" and the subsequent 1999 "The Child in Court: A Subject Review." It also builds on existing AAP policy on adverse life events affecting children and resources developed to understand and address childhood trauma. The purpose of this policy statement is to provide background information on some of the legal issues involving children testifying in court, including the accuracy and psychological impact of child testimony; to provide suggestions for how pediatricians can support patients who will testify in court; and to make recommendations for policy improvements to minimize the adverse psychological consequences for child witnesses...
February 20, 2017: Pediatrics
https://www.readbyqxmd.com/read/28219385/language-support-for-linguistic-minority-chronic-hepatitis-b-c-patients-an-exploratory-study-of-availability-and-clinicians-perceptions-of-language-barriers-in-six-european-countries
#20
Abby M Falla, Irene K Veldhuijzen, Amena A Ahmad, Miriam Levi, Jan Hendrik Richardus
BACKGROUND: Language support for linguistic minorities can improve patient safety, clinical outcomes and the quality of health care. Most chronic hepatitis B/C infections in Europe are detected among people born in endemic countries mostly in Africa, Asia and Central/Eastern Europe, groups that may experience language barriers when accessing health care services in their host countries. We investigated availability of interpreters and translated materials for linguistic minority hepatitis B/C patients...
February 20, 2017: BMC Health Services Research
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