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https://www.readbyqxmd.com/read/28732325/epidemiology-and-pathophysiology-of-pregnancy-associated-breast-cancer-a-review
#1
REVIEW
Rossana Ruiz, Carmen Herrero, Kathrin Strasser-Weippl, Diego Touya, Jessica St Louis, Alexandra Bukowski, Paul E Goss
The interactions between pregnancy and breast cancer (BC) are complex. Overall, parity is associated with long-term protective effects against BC, however in a small group of susceptible patients, pregnancy can lead to the development of a form of BC with a particularly poor prognosis. Pregnancy-associated breast cancer (PABC) remains an under-studied but important and growing clinical problem worldwide. Several aspects of PABC, including risk factors and mechanisms involved in its occurrence and aggressiveness, are incompletely understood...
July 18, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28731999/-duodenal-linphoma-asociated-to-strongyloides-stercoralis-infection-two-types-of-htlv-1-infection
#2
Julissa Guevara Miranda, Patricia Guzmán Rojas, Jorge Espinoza-Ríos, Fernando Mejía Cordero
Infection by the Human T- Lymphotropic virus I (HTLV-1) causes Adult T cell Leukemia-lymphoma (ATLL), being the duodenal involvement rare. Commonly, patients co-infected with HTLV-1 and Strongyloides stercoralis are seen due to the lack of TH2 response found on these patients. We describe a 48-year- old woman, from the jungle of Peru, with a family history of HTLV-1 infection, who presented with a History of chronic diarrhea and weight loss. HTLV-1 infection with ATLL and strongyloidiasis were diagnosed. Ivermectin treatment and chemotherapy were initiated, being stabilized, and discharged...
April 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/28731649/opinions-of-members-of-the-national-civil-family-proceedings-and-criminal-courts-in-withholding-or-withdrawing-of-life-support-situations-in-pediatrics
#3
Jorge O Selandari, María S Ciruzzi, Adriel J Roitman, Fernanda Ledesma, Célica Menéndez, Hernán O García
INTRODUCTION: The possibility of sustaining life functions makes it difficult to distinguish between a dying patient and a patient with chances of survival, raising a dilemma for everyone around them. On the one side, continuing with life support techniques that would only extend an irreversible process and result in physical and psychological damage and harm their dignity. On the other side, withholding or withdrawing life support without an adequate reflection and diagnostic-therapeutic effort which may lead to the death of a potentially recoverable child...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28731379/quasi-experimental-evaluation-of-a-multifaceted-intervention-to-improve-quality-of-end-of-life-care-and-quality-of-dying-for-patients-with-advanced-dementia-in-long-term-care-institutions
#4
René Verreault, Marcel Arcand, Lucie Misson, Pierre J Durand, Edeltraut Kroger, Michèle Aubin, Maryse Savoie, Thomas Hadjistavropoulos, Sharon Kaasalainen, Annick Bédard, Annie Grégoire, Pierre-Hughes Carmichael
BACKGROUND: Improvement in the quality of end-of-life care for advanced dementia is increasingly recognized as a priority in palliative care. AIM: To evaluate the impact of a multidimensional intervention to improve quality of care and quality of dying in advanced dementia in long-term care facilities. DESIGN: Quasi-experimental study with the intervention taking place in two long-term care facilities versus usual care in two others over a 1-year period...
July 1, 2017: Palliative Medicine
https://www.readbyqxmd.com/read/28730847/guidelines-for-the-assessment-and-diagnosis-of-patients-with-schizophrenia-spectrum-and-other-psychotic-disorders
#5
Donald Addington, Sabina Abidi, Iliana Garcia-Ortega, William G Honer, Zahinoor Ismail
OBJECTIVE: The objective of this article is to identify best practices in the diagnosis and assessment of patients with schizophrenia spectrum and other psychotic disorders. The diagnosis and assessment may occur in a range of situations from the emergency room to the outpatient clinic and at different stages of the disorder. The focus may be on acute exacerbations of illness, residual symptoms, levels of function, or changes in the response to treatment. METHODS: A systematic search was conducted for guidelines published in the last 5 years for schizophrenia and schizophrenia spectrum disorders...
January 1, 2017: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/28730788/topoisomerase-i-deregulation-in-laryngeal-squamous-cell-carcinomas-based-on-tissue-microarray-analysis
#6
Theodoros A Papadas, Evangelos Tsiambas, Nicholas S Mastronikolis, Andreas Karameris, Stylianos N Mastronikolis, Athanasios T Papadas, Panagiotis P Fotiades, Vasileios Ragos
PURPOSE: Topoisomerases (types: I/IIa-b/IIIa-b) represent a super-family of nucleic enzymes involved in the DNA replication, transcription, recombination, and also chromosome topological formation. Topoisomerase's I (Topo I- gene location: 20q12) aberrant expression is a frequent genetic event in a variety of solid malignancies. Topo I inhibition promotes cell death due to DNA damage and for this reason it is a target for specific targeted chemotherapy (camptothecin, topotecan, irinotecan)...
May 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28729730/a-selective-inhibitor-of-histone-deacetylase-3-prevents-cognitive-deficits-and-suppresses-striatal-cag-repeat-expansions-in-huntington-s-disease-mice
#7
Nuria Suelves, Lucy Kirkham-McCarthy, Robert S Lahue, Silvia Ginés
Huntington's disease (HD) is a neurodegenerative disorder whose major symptoms include progressive motor and cognitive dysfunction. Cognitive decline is a critical quality of life concern for HD patients and families. The enzyme histone deacetylase 3 (HDAC3) appears to be important in HD pathology by negatively regulating genes involved in cognitive functions. Furthermore, HDAC3 has been implicated in the aberrant transcriptional patterns that help cause disease symptoms in HD mice. HDAC3 also helps fuel CAG repeat expansions in human cells, suggesting that HDAC3 may power striatal expansions in the HTT gene thought to drive disease progression...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28729035/a-novel-cfhr1-cfhr5-hybrid-leads-to-a-familial-dominant-c3-glomerulopathy
#8
Shambhuprasad K Togarsimalemath, Sidharth K Sethi, Rajan Duggal, Moglie Le Quintrec, Pranaw Jha, Régis Daniel, Florence Gonnet, Shyam Bansal, Lubka T Roumenina, Veronique Fremeaux-Bacchi, Vijay Kher, Marie-Agnes Dragon-Durey
The intrinsic similarity shared between the members of the complement factor H family, which comprises complement factor H and five complement factor H-related (CFHR) genes, leads to various recombination events. In turn these events lead to deletions of some genes or abnormal proteins, which are found in patients with atypical hemolytic uremic syndrome or C3 glomerulopathies. Here we describe a novel genetic rearrangement generated from a heterozygous deletion spanning 146 Kbp involving multiple CFHR genes leading to a CFHR1-R5 hybrid protein...
July 17, 2017: Kidney International
https://www.readbyqxmd.com/read/28728857/-rosacea-new-data-for-better-care
#9
B Cribier
In the last 10 years, numerous studies have been published that throw new light on rosacea, in all areas of the disease. This overview summarises all the key developments, based on the indexed bibliography appearing in Medline between 2007 and 2017. Recent epidemiological data show that the prevalence of the disease is doubtless greater than estimated hitherto (more than 10% of adults in some countries) and that we should not overlook rosacea in subjects with skin phototypes V or VI, a condition that exists on all continents...
July 17, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28727727/a-comparative-study-of-patients-activities-and-interactions-in-a-stroke-unit-before-and-after-reconstruction-the-significance-of-the-built-environment
#10
Anna Anåker, Lena von Koch, Christina Sjöstrand, Julie Bernhardt, Marie Elf
Early mobilization and rehabilitation, multidisciplinary stroke expertise and comprehensive therapies are fundamental in a stroke unit. To achieve effective and safe stroke care, the physical environment in modern stroke units should facilitate the delivery of evidence-based care. Therefore, the purpose of this study was to explore patients' activities and interactions in a stroke unit before the reconstruction of the physical environment, while in a temporary location and after reconstruction. This case study examined a stroke unit as an integrated whole...
2017: PloS One
https://www.readbyqxmd.com/read/28727617/granulosa-cell-tumors-novel-predictors-of-recurrence-in-early-stage-patients
#11
Sharif Sakr, Eman Abdulfatah, Sumi Thomas, Zaid Al-Wahab, Rafic Beydoun, Robert Morris, Rouba Ali-Fehmi, Sudeshna Bandyopadhyay
Granulosa cell tumors (GCTs) comprise 2% to 5% of ovarian neoplasms, with unpredictable patterns of recurrence. The HER family, GATA4, and SMAD3 genes are reportedly involved in GCT proliferation and apoptosis and may serve as new predictors of recurrence. The aim of the study was to evaluate novel predictors of recurrence in GCT from a large single institution cohort. Patients diagnosed with GCTs (n=125) between 1975 and 2014 were identified. Clinicopathologic parameters were obtained and immunohistochemical evaluation was performed of calretinin, inhibin, HER2, CD56, SMAD3, and GATA4...
May 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28727242/examining-trust-in-health-professionals-among-family-caregivers-of-nursing-home-residents-with-advanced-dementia
#12
Jannie A Boogaard, Perla Werner, Anna Zisberg, Jenny T van der Steen
AIM: In a context of increasing emphasis on shared decision-making and palliative care in dementia, research on family caregivers' trust in health professionals in advanced dementia is surprisingly scant. The aim of the present study was to assess trust in nursing home health professionals of family caregivers of nursing home residents with advanced dementia, and possible correlates, such as family caregivers' satisfaction, involvement in care, care burden and patients' symptom burden...
July 20, 2017: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/28726123/rapidly-progressive-white-matter-involvement-in-early-childhood-the-expanding-phenotype-of-infantile-onset-pompe
#13
A Broomfield, J Fletcher, P Hensman, R Wright, H Prunty, J Pavaine, S A Jones
Glycogen accumulation in the central nervous system of patients with classical infantile onset Pompe disease (IOPD) has been a consistent finding on the few post-mortems performed. While delays in myelination and a possible reduction in processing speed have previously been noted, it has only been recently that the potential for clinically significant progressive white matter disease has been noted. The limited reports thus far published infer that in some IOPD patients, this manifests as intellectual decline in the second decade of life...
July 20, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28726068/cardiac-complications-of-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#14
REVIEW
D Marques-da-Silva, R Francisco, D Webster, V Dos Reis Ferreira, J Jaeken, T Pulinilkunnil
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to severe poly-organ -system dysfunction. This literature review summarizes cardiac involvement, reported in 20% of CDG. CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways...
July 19, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28725854/improving-the-patient-experience-by-implementing-an-icu-diary-for-those-at-risk-of-post-intensive-care-syndrome
#15
K Taylor A Blair, Sarah D Eccleston, Hannah M Binder, Mary S McCarthy
The critical care literature in the US has recently brought attention to the impact an ICU experience can have long after the patient survives critical illness, particularly if delirium was present. Current recommendations to mitigate post-intensive care syndrome (PICS) are embedded in patient and family-centered care and aim to promote family presence in the ICU, provide support for decision-making, and enhance communication with the health-care team. Evidence-based interventions are few in number but include use of an ICU diary to minimize the psychological and emotional sequelae affecting patients and family members in the months following the ICU stay...
March 2017: Journal of patient experience
https://www.readbyqxmd.com/read/28724353/marfan-syndrome-and-cardiovascular-complications-results-of-a-family-investigation
#16
Simon Antoine Sarr, Siddikatou Djibrilla, Fatou Aw, Malick Bodian, Kana Babaka, Aliou Alassane Ngaidé, Momar Dioum, Serigne Abdou Ba
BACKGROUND: Cardiovascular complications in Marfan syndrome (MFS) make all its seriousness. Taking as a basis the Ghent criteria, we conducted a family screening from an index case. The objective was to describe the clinical characteristics of MFS anomalies and to detect cardiovascular complications in our patients. CASE PRESENTATION: Six subjects were evaluated. Patients had to be in the same uterine siblings of the index case or be a descendant. The objective was to search for MFS based on the diagnostic criteria of Ghent and, subsequently, detecting cardiovascular damage...
July 19, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/28722801/primary-familial-brain-calcification-with-a-novel-slc20a2-mutation-analysis-of-pit-2-expression-and-localization
#17
Ilaria Taglia, Patrizia Formichi, Carla Battisti, Giulia Peppoloni, Melissa Barghigiani, Alessandra Tessa, Antonio Federico
Primary Familial Brain Calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2 expression and function. Sanger sequencing of SLC20A2, PDGFRB, PDGFB, XPR1 led to the identification of a novel duplication of twelve nucleotides (c...
July 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28722760/patients-and-their-family-members-experiences-of-participation-in-care-following-an-acute-exacerbation-in-copd-a-phenomenological-hermeneutic-study
#18
Ingrid Charlotte Andersen, Thora Grothe Thomsen, Poul Bruun, Uffe Bodtger, Lise Hounsgaard
AIM AND OBJECTIVES: To explore the experiences of patients with chronic obstructive pulmonary disease (COPD) and their family members relating to both participation in care during hospitalization for an acute exacerbation in COPD, and to the subsequent day-to-day care at home. BACKGROUND: When recovering from an exacerbation, the challenges associated with an unpredictable health condition dominate everyday life for patients and can involve their family members...
July 19, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28721754/a-model-of-adaptation-for-families-of-elderly-patients-with-dementia-focusing-on-family-resilience
#19
Geun Myun Kim, Ji Young Lim, Eun Joo Kim, Sang Suk Kim
OBJECTIVES: We constructed a model explaining families' positive adaptation in chronic crisis situations such as the problematic behavior of elderly patients with dementia and attendant caregiving stress, based on the family resilience model. Our aim was to devise an adaptation model for families of elderly patients with dementia. METHOD: A survey of problematic behavior in elderly patients with dementia, family stress, family resilience, and family adaptation was conducted with 292 consenting individuals...
July 19, 2017: Aging & Mental Health
https://www.readbyqxmd.com/read/28721594/exome-analysis-in-an-estonian-multiplex-family-with-neural-tube-defects-a-case-report
#20
Liina Pappa, Mart Kals, Paula Ann Kivistik, Andres Metspalu, Ann Paal, Tiit Nikopensius
INTRODUCTION: Neural tube defects (NTDs) are a group of common and severe congenital birth defects that occur during early embryonic development due to incomplete closure of the neural tube. The genetic architecture of human NTDs, including spina bifida and hydrocephalus, is highly heterogeneous, with multiple genes/loci and both gene-gene and gene-environment interactions involved. Hence, the variation in outcomes also most likely relates to a combination of the severity of different variants in multiple genes and genetic modifiers affecting the biochemical traits...
July 18, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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