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Patient and family involvement

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https://www.readbyqxmd.com/read/29332008/leg-stereotypy-syndrome-phenomenology-and-prevalence
#1
Mitesh Lotia, Michele K York, Adriana M Strutt, Joseph Jankovic
OBJECTIVES: To describe the phenomenology and prevalence of leg stereotypy syndrome (LSS), characterised chiefly by repetitive, rhythmical, stereotypic leg movement, especially when sitting. METHODS: We sought to characterise LSS in two groups of subjects: (1) general population (GP) group, defined as individuals accompanying patients during their visits to Baylor College of Medicine Parkinson's Disease Center and Movement Disorders Clinic who are not genetically related to the patients; and (2) movement disorders (MD) group, composed of consecutive patients with diagnoses of restless legs syndrome, Parkinson's disease, Tourette syndrome and tardive dyskinesia...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29331655/what-makes-it-so-difficult-for-nurses-to-coach-patients-in-shared-decision-making-a-process-evaluation
#2
Stephanie Anna Lenzen, Ramon Daniëls, Marloes Amantia van Bokhoven, Trudy van der Weijden, Anna Beurskens
BACKGROUND: Primary care nurses play a crucial role in coaching patients in shared decision making about goals and actions. This presents a challenge to practice nurses, who are frequently used to protocol-based working routines. Therefore, an approach was developed to support nurses to coach patients in shared decision making. OBJECTIVES: To investigate how the approach was implemented and experienced by practice nurses and patients. DESIGN: A process evaluation was conducted using quantitative and qualitative methods...
December 16, 2017: International Journal of Nursing Studies
https://www.readbyqxmd.com/read/29331103/comparison-of-coronary-risk-factors-and-angiographic-findings-in-younger-and-older-patients-with-significant-coronary-artery-disease
#3
Mohammad Parsa Mahjoob, Soheila Sadeghi, Hamide Falahaty Khanaman, Mohammadreza Naderian, Isa Khaheshi
BACKGROUND: Coronary artery disease (CAD) is uncommon among young adults and may have certain characteristics that are different from those in older patients. The aim of the current study was to determine the risk factors of CAD, important laboratory data and angiographic findings in young patients with CAD and to compare them with the old patients. METHODS: Patients with typical chest pain whose CAD was confirmed by coronary angiography were included in the study...
December 20, 2017: Romanian Journal of Internal Medicine, Revue Roumaine de Médecine Interne
https://www.readbyqxmd.com/read/29330412/high-expression-of-endogenous-retroviruses-from-intrauterine-life-to-adulthood-in-two-mouse-models-of-autism-spectrum-disorders
#4
Chiara Cipriani, Laura Ricceri, Claudia Matteucci, Alessia De Felice, Anna Maria Tartaglione, Ayele Argaw-Denboba, Francesca Pica, Sandro Grelli, Gemma Calamandrei, Paola Sinibaldi Vallebona, Emanuela Balestrieri
Retroelements, such as Human Endogenous Retroviruses (HERVs), have been implicated in many complex diseases, including neurological and neuropsychiatric disorders. Previously, we demonstrated a distinctive expression profile of specific HERV families in peripheral blood mononuclear cells from Autistic Spectrum Disorders (ASD) patients, suggesting their involvement in ASD. Here we used two distinct ASD mouse models: inbred BTBR T+tf/J mice and CD-1 outbred mice prenatally exposed to valproic acid. Whole embryos, blood and brain samples from the offspring were collected at different ages and the expression of several ERV families (ETnI, ETnII-α, ETnII-β, ETnII-γ, MusD and IAP), proinflammatory cytokines (IL-1β, IL-6 and TNF-α) and Toll-like receptors (TLR3 and TLR4) was assessed...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330241/primary-care-physician-involvement-in-shared-decision-making-for-critically-ill-patients-and-family-satisfaction-with-care
#5
Kevin B Huang, Urs Weber, Jennifer Johnson, Nathanial Anderson, Andrea K Knies, Belinda Nhundu, Cynthia Bautista, Kelly Poskus, Kevin N Sheth, David Y Hwang
PURPOSE: An intensive care unit (ICU) patient's primary care physician (PCP) may be able to assist family with certain ICU shared medical decisions. We explored whether families of patients in nonopen ICUs who nevertheless report involvement of a patient's PCP in medical decision making are more satisfied with ICU shared decision making than families who do not. METHODS: Between March 2013 and December 2015, we administered the Family Satisfaction in the ICU 24 survey to family members of adult neuroscience ICU patients...
January 2018: Journal of the American Board of Family Medicine: JABFM
https://www.readbyqxmd.com/read/29330232/interventions-must-be-realistic-to-be-useful-and-completed-in-family-medicine
#6
EDITORIAL
Marjorie A Bowman, Dean A Seehusen, Anne Victoria Neale
Being realistic while helping our patients is this issue's theme. Given the volume of tasks required in family medicine, recommendations for improvements in direct care or care measurement cannot just be evidence-based but must also be realistic. On the list of realistic: ordering antipsychotics for symptoms of dementia in the elderly, despite recommendations to not do so; ordering antidepressants without fear that the patient could develop hypertension; mental health care providers in primary care offices; forced choice for opioid management; plus agenda setting for visit efficiency...
January 2018: Journal of the American Board of Family Medicine: JABFM
https://www.readbyqxmd.com/read/29329938/pipeline-to-gene-discovery-analysing-familial-parkinsonism-in-the-queensland-parkinson-s-project
#7
Steven R Bentley, Stephanie Bortnick, Ilaria Guella, Javed Y Fowdar, Peter A Silburn, Stephen A Wood, Matthew J Farrer, George D Mellick
INTRODUCTION: Family based study designs provide an informative resource to identify disease-causing mutations. The Queensland Parkinson's Project (QPP) has been involved in numerous genetic screening studies; however, details of the families enrolled into the register have not been comprehensively reported. This article characterises the families enrolled in the QPP and summarises monogenic forms of hereditary Parkinsonism found in the register. METHOD: The presence of pathogenic point mutations and copy number variations (CNVs) were, generally, screened in a sample of over 1000 PD patients from the total of 1725...
January 3, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29329714/mutation-burden-profile-in-familial-alzheimer-s-disease-cases-from-india
#8
Adhikarla Syama, Somdatta Sen, Lakshmi Narayanan Kota, Biju Viswanath, Meera Purushottam, Mathew Varghese, Sanjeev Jain, Mitradas M Panicker, Odity Mukherjee
This study attempts to identify coding risk variants in genes previously implicated in Alzheimer's disease (AD) pathways, through whole-exome sequencing of subjects (N = 17) with AD, with a positive family history of dementia (familial AD). We attempted to evaluate the mutation burden in genes encoding amyloid precursor protein metabolism and previously linked to risk of dementias. Novel variants were identified in genes involved in amyloid precursor protein metabolism such as PSEN1 (chr 14:73653575, W161C, tgg > tgT), PLAT (chr 8:42039530,G272R), and SORL1 (chr11:121414373,G601D)...
December 12, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29329163/the-importance-of-parental-connectedness-and-relationships-with-healthcare-professionals-in-end-of-life-care-in-the-picu
#9
Jeannette L Falkenburg, Dick Tibboel, Ruard R Ganzevoort, Saskia J Gischler, Monique van Dijk
OBJECTIVES: Support from healthcare professionals in a PICU is highly valuable for parents of dying children. The way they care for the patients and their families affects the parents' initial mourning process. This study explores what interaction with hospital staff is meaningful to parents in existential distress when their child is dying in the PICU. DESIGN: Qualitative interview study. SETTING: Level 3 PICU in the Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, and the Netherlands...
January 11, 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29327140/children-s-experiences-of-congenital-heart-disease-a-systematic-review-of-qualitative-studies
#10
REVIEW
Lauren S H Chong, Dominic A Fitzgerald, Jonathan C Craig, Karine E Manera, Camilla S Hanson, David Celermajer, Julian Ayer, Nadine A Kasparian, Allison Tong
We aimed to describe the experiences of children and adolescents with congenital heart disease (CHD). Electronic databases were searched until August 2016. Qualitative studies of children's perspectives on CHD were included. Data was extracted using thematic synthesis. From 44 studies from 12 countries involving 995 children, we identified 6 themes: disrupting normality (denying the diagnosis, oscillating between sickness and health, destabilizing the family dynamic), powerlessness in deteriorating health (preoccupation with impending mortality, vulnerability to catastrophic complications, exhaustion from medical testing), enduring medical ordeals (traumatized by invasive procedures, disappointed by treatment failure, displaced by transition, valuing empathy and continuity in care, overcoming uncertainty with information), warring with the body (losing stamina, distressing inability to participate in sport, distorted body image, testing the limits), hampering potential and goals (feeling disabled, unfair judgment and exclusion, difficulties with academic achievement, limiting attainment and maintenance of life milestones), and establishing one's own pace (demarcating disease from life, determination to survive, taking limitations in their stride, embracing the positives, finding personal enrichment, relying on social or spiritual support)...
January 11, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29327093/mir-181-family-specific-behavior-in-different-cancers-a-meta-analysis-view
#11
Cecilia Pop-Bica, Sebastian Pintea, Roxana Cojocneanu-Petric, Giannino Del Sal, Silvano Piazza, Zhao-Hui Wu, Alvaro J Alencar, Izidore S Lossos, Ioana Berindan-Neagoe, George A Calin
The involvement of microRNAs in malignant transformation and cancer progression was previously grounded. The observations made by multiple published studies led to the conclusion that some of these small sequences could be eventually used as biomarkers for diagnosis/prognosis. This meta-analysis investigated whether microRNA-181 family members could predict the outcome of patients carrying different types of cancer. We searched the PubMed and Embase databases for studies evaluating the expression levels of miR-181a/b/c/d in patients with cancer, selecting the publications that assessed the relation between low and high levels of one of these four microRNAs and patients' outcome...
January 11, 2018: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/29326535/very-rare-presentation-of-cerebrovascular-accident-in-20-year-old-man-with-familial-mediterranean-fever-case-report
#12
Miramir Aghdashi, Seyed-Mostafa Seidmardani, Sara Vossoughian, Seyed Arman Seyed Mokhtari
Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever accompanied by serosal, synovial, or cutaneous inflammation. The central nervous system (CNS) is rarely involved in FMF. The CNS involvement includes demyelinating lesions, posterior reversible encephalopathy syndrome, pseudotumor cerebri, optic neuritis, and cerebral vasculitis. Here, we present a 20-year-old man, a known case of FMF with abrupt left-sided hemiparesis. Brain magnetic resonance imaging revealed right periventricular infarction...
2018: Clinical Medicine Insights. Case Reports
https://www.readbyqxmd.com/read/29326517/18p-deletion-syndrome-case-report-with-clinical-consideration-and-management
#13
Megha Goyal, Mayuri Jain, Sachin Singhal, Kirty Nandimath
18p deletion syndrome is characterized by the deletion of short arm of chromosome 18. Presentation of this syndrome is quite variable with dysmorphic features, growth deficiencies, and mental retardation with poor verbal performance. Few patients even fail to thrive when malformations involving the heart and brain are severe. In the present article, we report an isolated case of 18p deletion in a 23-year-old female who for the first time reported to the hospital for dental problems. The patient was short statured with mental retardation and craniofacial, skeletal, dental, and endocrinal abnormalities...
October 2017: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/29326437/insertional-mutagenesis-in-a-her2-positive-breast-cancer-model-reveals-eras-as-a-driver-of-cancer-and-therapy-resistance
#14
Gerjon J Ikink, Mandy Boer, Elvira R M Bakker, Annabel Vendel-Zwaagstra, Chris Klijn, Jelle Ten Hoeve, Jos Jonkers, Lodewyk F Wessels, John Hilkens
Personalized medicine for cancer patients requires a deep understanding of the underlying genetics that drive cancer and the subsequent identification of predictive biomarkers. To discover new genes and pathways contributing to oncogenesis and therapy resistance in HER2+ breast cancer, we performed Mouse Mammary Tumor Virus (MMTV)-induced insertional mutagenesis screens in ErbB2/cNeu-transgenic mouse models. The screens revealed 34 common integration sites (CIS) in mammary tumors of MMTV-infected mice, highlighting loci with multiple independent MMTV integrations in which potential oncogenes are activated, most of which had never been reported as MMTV CIS...
January 12, 2018: Oncogene
https://www.readbyqxmd.com/read/29326285/prevalence-of-aflatoxin-associated-tp53r249s-mutation-in-hepatocellular-carcinoma-in-hispanics-in-south-texas
#15
Jingjing Jiao, Weibo Niu, Ying Wang, Keith Baggerly, Yuanqing Ye, Xifeng Wu, Dewitt Davenport, Jose Luis Almeda, Monica M Betancourt-Garcia, R Armour Forse, Heather L Stevenson, Gordon P Watt, Joseph B McCormick, Susan P Fisher-Hoch, Laura Beretta
We aimed to determine whether aflatoxin dietary exposure plays a role in the high incidence of hepatocellular carcinoma (HCC) observed among Hispanics in South Texas. We measured TP53R249S somatic mutation, hallmark of aflatoxin etiology in HCC, using droplet digital PCR and RFLP. TP53R249S mutation was detected in 3 of 41 HCC tumors from Hispanics in South Texas (7.3%). We also measured TP53R249S mutation in plasma cell-free DNA (cfDNA) from 218 HCC patients and 96 Hispanic subjects with advanced fibrosis or cirrhosis, from South Texas...
January 11, 2018: Cancer Prevention Research
https://www.readbyqxmd.com/read/29326197/parents-2-study-protocol-pilot-of-parents-active-role-and-engagement-in-the-review-of-their-stillbirth-perinatal-death
#16
Danya Bakhbakhi, Dimitrios Siassakos, Claire Storey, Alexander Heazell, Mary Lynch, Laura Timlin, Christy Burden
BACKGROUND: The perinatal mortality review meeting that takes place within the hospital following a stillbirth or neonatal death enables clinicians to learn vital lessons to improve care for women and their families for the future. Recent evidence suggests that parents are unaware that a formal review following the death of their baby takes place. Many would welcome the opportunity to feedback into the meeting itself. Parental involvement in the perinatal mortality review meeting has the potential to improve patient satisfaction, drive improvements in patient safety and promote an open culture within healthcare...
January 10, 2018: BMJ Open
https://www.readbyqxmd.com/read/29326146/prior-authorization-requirements-for-proprotein-convertase-subtilisin-kexin-type-9-inhibitors-across-us-private-and-public-payers
#17
Jalpa A Doshi, Justin T Puckett, Michael S Parmacek, Daniel J Rader
BACKGROUND: Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9is) are an innovative treatment option for patients with familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease who require further lowering of low-density lipoprotein cholesterol. However, the high costs of these agents have spurred payers to implement utilization management policies to ensure appropriate use. We examined prior authorization (PA) requirements for PCSK9is across private and public US payers...
January 2018: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29324375/cancer-in-an-unexpected-site-post-pouch-surgery-for-familial-adenomatous-polyposis-fap
#18
Omar A Alwahbi, Alaa S Abduljabbar, Lucman A Anwer
INTRODUCTION: Familial Adenomatous Polyposis (FAP) is a hereditary condition characterized by multiple colorectal adenomatous polyps. FAP is the most common adenomatous polyposis syndrome. Restorative proctocolectomy is the most commonly performed surgical procedure performed for patients suffering from FAP with different options for anastomosis, namely ileorectal anastomosis (IRA) or ileal pouch anal anastomosis (IPAA). The occurrence of adenomas is a common finding during follow up and surveillance post surgery for these patients...
December 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29323822/hand-hygiene-among-health-care-workers-is-educating-patients-and-families-a-feasible-way-to-increase-rates
#19
Marvin J Bittner, Jared M Routh, Matthew D Folchert, Nicholas E Woessner, Sean J Kennedy, Chase C Parks
BACKGROUND: The Centers for Disease Control and Prevention has recommended teaching patients to remind health care workers to disinfect their hands. However, cognitive impairment among patients may hamper such efforts. METHODS: The St. Louis University Mental Status (SLUMS) Examination was administered to randomly selected inpatients at the Omaha VA Medical Center in Omaha, Nebraska. We asked patients and their families about attitudes toward reminding health care workers to disinfect their hands: willingness, feeling comfortable, and feeling responsible...
June 2017: WMJ: Official Publication of the State Medical Society of Wisconsin
https://www.readbyqxmd.com/read/29323716/oxidative-burden-in-familial-hypercholesterolemia
#20
REVIEW
Hamid Mollazadeh, Federico Carbone, Fabrizio Montecucco, Matteo Pirro, Amirhossein Sahebkar
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high serum levels of low-density lipoprotein cholesterol (LDL-c). FH is characterized by accelerated development of atherosclerosis and represents the most frequent hereditary cause of premature coronary heart disease. Mutations of the LDL receptor gene are the genetic signature of FH, resulting in abnormal levels of circulating LDLs. Moreover, FH promotes the generation of reactive oxygen species (ROS) which is another key mechanism involved in atherosclerosis development and progression...
January 11, 2018: Journal of Cellular Physiology
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