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https://www.readbyqxmd.com/read/28547926/transdisciplinarity-in-health-care-a-concept-analysis
#1
Vanessa Van Bewer
AIM: To analyze the concept of transdisciplinarity and provide an enhanced definition of transdisciplinarity in health care. BACKGROUND: The term transdisciplinarity is increasingly prevalent in health care research and has been identified as important to improving the effectiveness and efficiency in health care. However, the term continues to be misappropriated and poorly understood by researchers and clinicians alike which hinders its potential use and impact...
May 26, 2017: Nursing Forum
https://www.readbyqxmd.com/read/28546987/current-progress-in-understanding-the-molecular-pathogenesis-of-burn-scar-contracture
#2
REVIEW
Jianglin Tan, Jun Wu
Abnormal wound healing is likely to induce scar formation, leading to dysfunction, deformity, and psychological trauma in burn patients. Despite the advancement of medical care treatment, scar contracture in burn patients remains a challenge. Myofibroblasts play a key role in scar contracture. It has been demonstrated that myofibroblasts, as well as inflammatory cells, fibroblasts, endothelial cells, and epithelial cells, secrete transforming growth factor-β1 (TGF-β1) and other cytokines, which can promote persistent myofibroblast activation via a positive regulation loop...
2017: Burns and trauma
https://www.readbyqxmd.com/read/28546921/a-novel-frameshift-mutation-in-cx46-associated-with-hereditary-dominant-cataracts-in-a-chinese-family
#3
Xiu-Kun Cui, Ke-Ke Zhu, Zheng Zhou, Si-Min Wan, Yi Dong, Xuan-Ce Wang, Jing Li, Jing Zhang, Hong-Mei Mu, Lei Qin, Yan-Zhong Hu
AIM: To investigate the genetic mutations that are associated the hereditary autosomal dominant cataract in a Chinese family. METHODS: A Chinese family consisting of 20 cataract patients (including 9 male and 11 female) and 2 unaffected individuals from 5 generations were diagnosed to be a typical autosomal dominant cataract pedigree. Genomic DNA samples were extracted from the peripheral blood cells of the participants in this pedigree. Exon sequence was used for genetic mutation screening...
2017: International Journal of Ophthalmology
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
#4
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
https://www.readbyqxmd.com/read/28545557/children-with-cancer-a-survey-on-the-experience-of-italian-primary-care-pediatricians
#5
Marta Minute, Giorgio Cozzi, Chiara Plotti, Giuseppe Montanari, Paolo Pecile, Giulio Andrea Zanazzo, Alessandro Ventura, Egidio Barbi
BACKGROUND: Cancer is the second cause of death in children and its diagnosis can be difficult, due to the presence of vague and non-specific symptoms. The primary care pediatrician is often involved in the diagnostic process, but no longer in child care once the treatment started. Care models involving both primary care pediatricians and oncologic referral centre highlighted a higher family satisfaction when they worked together. We conducted a survey on primary care pediatricians involved in childhood cancer in order to describe the actual situation...
May 25, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28544275/recessive-mutations-in-msto1-cause-mitochondrial-dynamics-impairment-leading-to-myopathy-and-ataxia
#6
Alessia Nasca, Chiara Scotton, Irina Zaharieva, Marcella Neri, Rita Selvatici, Olafur Thor Magnusson, Aniko Gal, David Weaver, Rachele Rossi, Annarita Armaroli, Marika Pane, Rahul Phadke, Anna Sarkozy, Francesco Muntoni, Imelda Hughes, Antonella Cecconi, György Hajnóczky, Alice Donati, Eugenio Mercuri, Massimo Zeviani, Alessandra Ferlini, Daniele Ghezzi
We report here the first families carrying recessive variants in the MSTO1 gene: compound heterozygous mutations were identified in two sisters and in an unrelated singleton case, who presented a multisystem complex phenotype mainly characterized by myopathy and cerebellar ataxia. Human MSTO1 is a poorly studied protein, suggested to have mitochondrial localization and to regulate morphology and distribution of mitochondria. As for other mutations affecting genes involved in mitochondrial dynamics, no biochemical defects typical of mitochondrial disorders were reported...
May 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28543671/patient-centred-dietetic-care-from-the-perspectives-of-older-malnourished-patients
#7
E Hazzard, L Barone, M Mason, K Lambert, A McMahon
BACKGROUND: Governing organisations for health services currently recommend a patient-centred (PC) approach to practice for all health professions, including dietetics. For the vulnerable older malnourished patient, this approach needs to be prioritised to improve outcomes. The paucity of patient experience data likely limits evidence-based, patient-centred care (PCC) from being implemented effectively. The present study aimed to identify quality indicators of dietetic services from the perspectives of older malnourished patients to inform evidence-based PC dietetic care...
May 22, 2017: Journal of Human Nutrition and Dietetics: the Official Journal of the British Dietetic Association
https://www.readbyqxmd.com/read/28543618/-i-try-to-make-a-net-around-each-patient-home-care-nursing-as-relational-practice
#8
Kristin Bjornsdottir
BACKGROUND: As a result of restructuring, home care is increasingly defined in a narrow, task-based way, undermining the holistic nature of practice. Recent practice theories can aid us in articulating the nature of this important, yet often invisible practice. AIM: My aim in this article was to enhance our knowledge and understanding of the nature of home care nursing practice. METHOD: The approach was ethnographic, involving extensive fieldwork and formal interviews with members of five home care nursing teams and 15 older persons receiving care at home in a metropolitan area of Iceland...
May 24, 2017: Scandinavian Journal of Caring Sciences
https://www.readbyqxmd.com/read/28542722/a-homozygous-potentially-pathogenic-variant-in-the-paxbp1-gene-in-a-large-family-with-global-developmental-delay-and-myopathic-hypotonia
#9
Essa Alharby, Alia M Albalawi, Abdul Nasir, Sabri A Alhijji, Amer Mahmood, Khushnooda Ramzan, Firoz Abdusamad, Abdulkarim Aljohani, Osama Abdelsalam, Amr Eldardear, Sulman Basit
PAX binding protein 1 (PAXBP1) is an adaptor protein linking the transcription factor PAX3 and PAX7 to the histone methylation machinery. PAXBP1 is a nuclear protein and its high expression is known in brain cerebellar hemisphere and cerebellum. Moreover, it is also found in abundance in muscle precursor cells that are involved in myogenesis and skeletal muscles formation. Whole genome SNP genotyping and exome sequencing in a family with distinct syndrome of global developmental delay and hypotonia mapped the disease locus to the chromosome 21q22...
May 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542315/attitudes-of-older-people-with-mild-dementia-and-mild-cognitive-impairment-and-their-relatives-about-falls-risk-and-prevention-a-qualitative-study
#10
Tamsin Peach, Kristian Pollock, Veronika van der Wardt, Roshan das Nair, Pip Logan, Rowan H Harwood
OBJECTIVE: To explore the perceptions of older people with mild dementia and mild cognitive impairment, and their family carers, about falling, falls risk and the acceptability of falls prevention interventions. DESIGN: Qualitative study involving thematic analysis of semi-structured interviews with patient and relative dyads. PARTICIPANTS AND SETTING: 20 patient/ relative dyads recruited from Memory Assessment Services and Falls Prevention Services in the United Kingdom...
2017: PloS One
https://www.readbyqxmd.com/read/28540621/universal-brca1-brca2-testing-for-ovarian-cancer-patients-is-welcomed-but-with-care-how-women-and-staff-contextualize-experiences-of-expanded-access
#11
Hannah Shipman, Samantha Flynn, Carey F MacDonald-Smith, James Brenton, Robin Crawford, Marc Tischkowitz, Nicholas J Hulbert-Williams
Decreasing costs of genetic testing and advances in treatment for women with cancer with germline BRCA1/BRCA2 mutations have heralded more inclusive genetic testing programs. The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study, investigates the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (universal genetic testing or UGT). Study participants and staff were interviewed to: (i) assess the impact of UGT (ii) integrate patients' and staff perspectives in the development of new UGT programs...
May 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28539454/ebola-virus-delta-peptide-is-a-viroporin
#12
Jing He, Lilia I Melnik, Alexander Komin, Gregory Wiedman, Taylor Fuselier, Cameron F Morris, Charles G Starr, Peter C Searson, William R Gallaher, Kalina Hristova, Robert F Garry, William C Wimley
The Ebola virus (EBOV) genome encodes for a partly conserved, 40-residue, nonstructural polypeptide, called the delta peptide, which is produced in abundance during Ebola virus disease. The function of the delta peptide is unknown, but sequence analysis has suggested that delta peptide could be a viroporin, belonging to a diverse family of membrane-permeabilizing small polypeptides involved in replication and pathogenesis of numerous viruses. Full length and conserved C-terminal delta peptide fragments permeabilize the plasma membranes of nucleated cells of rodent, dog, monkey and human origin, increase ion permeability across confluent cell monolayers and permeabilize synthetic lipid bilayers...
May 24, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28538673/breast-cancer-exploring-the-facts-and-holistic-needs-during-and-beyond-treatment
#13
REVIEW
Zhi Xuan Ng, Mei Shan Ong, Tamilarasi Jegadeesan, Shuo Deng, Celestial T Yap
Breast cancer patients face challenges throughout the journey of diagnosis, treatment, post-treatment, and recovery. The breast cancer patient is exposed to a multidisciplinary team including doctors, nurses, therapists, counselors, and psychologists. While the team assembled together aims to address multiple facets in breast cancer care, the sub-specialized nature of individual professional practices may constrain the overview of patients' holistic needs and a comprehensive approach to cancer management. This paper aims to provide an overview of the holistic needs of breast cancer patients at each stage of their cancer journey, addressing their complex physical, psychological, and social needs...
May 24, 2017: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/28538511/successful-treatment-of-transplantation-associated-atypical-hemolytic-uremic-syndrome-with-eculizumab
#14
Daiichiro Hasegawa, Atsuro Saito, Nanako Nino, Suguru Uemura, Satoru Takafuji, Takehito Yokoi, Aiko Kozaki, Toshiaki Ishida, Keiichiro Kawasaki, Takahiro Yasumi, Naoki Sakata, Yasufumi Ohtsuka, Satoshi Hirase, Takeshi Mori, Noriyuki Nishimira, Mayumi Kusumoto, Yoshiharu Ogawa, Kenta Tominaga, Taku Nakagawa, Kyoko Kanda, Ryojiro Tanaka, Yoshiyuki Kosaka
We herein reported a 4-month-old boy with transplantation-associated atypical hemolytic uremic syndrome (TA-aHUS) who was successfully treated with eculizumab. The patient diagnosed with type 3 of familial hemophagocytic lymphohistiocytosis underwent cord blood transplantation. After transplantation, he developed TA-aHUS, but plasma exchanges were unsuccessful. We identified deletions in CFH-related gene 1 (del-CFHR1) by the multiplex ligation-dependent probe amplification testing procedure and CFH autoantibodies...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#15
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28538051/mobius-syndrome-a-35-year-single-institution-experience
#16
Philip K McClure, Eray Kilinc, Scott Oishi, Anthony I Riccio, Lori A Karol
BACKGROUND: Mobius syndrome is a rare syndrome that is known to be associated with a variety of orthopaedic conditions including scoliosis, clubfoot, transverse limb deficiencies, Poland syndrome, and a myriad of hand conditions. To date, no large series exist to characterize the orthopaedic manifestations of Mobius syndrome. METHODS: Medical records at a single tertiary pediatric institution were reviewed for all patients diagnosed with Mobius syndrome from January 1, 1980 to December 31, 2015...
May 19, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28536906/current-status-of-bruton-s-tyrosine-kinase-inhibitor-development-and-use-in-b-cell-malignancies
#17
REVIEW
Andrew Aw, Jennifer R Brown
The B-cell receptor (BCR) pathway plays an important role in the survival, proliferation and trafficking of cancer cells in a variety of B-cell malignancies. Recently, a number of agents have been developed to target various components of the BCR pathway. One such target is Bruton's tyrosine kinase (BTK), a Tec family kinase member found near the cell membrane that is involved in upstream BCR signaling. The biological function of BTK in several B-cell lymphoid malignancies has led to the development of the oral BTK inhibitor ibrutinib...
May 23, 2017: Drugs & Aging
https://www.readbyqxmd.com/read/28536669/disparate-presentations-of-localized-cystic-disease-of-kidney-a-review-with-an-objective-of-correct-approach-for-accurate-treatment-plan
#18
Sachin Khanduri, Mriganki Chaudhary, Tushar Sabharwal, Aakshit Goyal, Gaurav Katyal
BACKGROUND: Localized cystic disease of the kidney is a rare, non-familial condition. Its imaging and clinical features are unique and need to be differentiated from autosomal dominant polycystic kidney disease and focal cystic masses such as multicystic nephroma and cystic renal cell carcinoma. It is always restricted to one kidney and is characterized by multiple cysts of varying sizes separated by residual normal renal tissue. MATERIALS AND METHODS: This study reports 12 cases of localized cystic disease of the kidney based on imaging findings and clinical histories...
April 22, 2017: Curēus
https://www.readbyqxmd.com/read/28536638/abcc6-knockdown-in-hepg2-cells-induces-a-senescent-like-cell-phenotype
#19
Rocchina Miglionico, Angela Ostuni, Maria Francesca Armentano, Luigi Milella, Elvira Crescenzi, Monica Carmosino, Faustino Bisaccia
BACKGROUND: Pseudoxanthoma elasticum (PXE) is characterized by progressive ectopic mineralization of elastic fibers in dermal, ocular and vascular tissues. No effective treatment exists. It is caused by inactivating mutations in the gene encoding for the ATP-binding cassette, sub-family C member 6 transporter (ABCC6), which is mainly expressed in the liver. The ABCC6 substrate (s) and the PXE pathomechanism remain unknown. Recent studies have shown that overexpression of ABCC6 in HEK293 cells results in efflux of ATP, which is rapidly converted into nucleoside monophosphates and pyrophosphate (PPi)...
2017: Cellular & Molecular Biology Letters
https://www.readbyqxmd.com/read/28534160/micrornas-new-therapeutic-targets-for-familial-hypercholesterolemia
#20
REVIEW
Amir Abbas Momtazi, Maciej Banach, Matteo Pirro, Evan A Stein, Amirhossein Sahebkar
Familial hypercholesterolemia (FH) is the most common inherited form of dyslipidemia and a major cause of premature cardiovascular disease. Management of FH mainly relies on the efficiency of treatments that reduce plasma low-density lipoprotein (LDL) cholesterol (LDL-C) concentrations. MicroRNAs (miRs) have been suggested as emerging regulators of plasma LDL-C concentrations. Notably, there is evidence showing that miRs can regulate the post-transcriptional expression of genes involved in the pathogenesis of FH, including LDLR, APOB, PCSK9, and LDLRAP1...
May 22, 2017: Clinical Reviews in Allergy & Immunology
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