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https://www.readbyqxmd.com/read/29691956/dementia-care-mapping-to-support-staff-in-the-care-of-people-with-intellectual-disability-and-dementia-a-feasibility-study
#1
Feija D Schaap, Andrea S Fokkens, Geke J Dijkstra, Sijmen A Reijneveld, Evelyn J Finnema
BACKGROUND: The number of people with intellectual disability and dementia increases; this combination causes behavioural changes. Dementia Care Mapping (DCM) supports staff in dementia care in nursing homes and may be useful in intellectual disability-care. This qualitative study examines the feasibility of DCM for older people with intellectual disability and dementia. METHODS: The present authors obtained data in focus groups and interviews with professional users and analysed using a framework for feasibility studies...
April 24, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29691944/developmental-performance-of-5-year-old-bulgarian-children-an-example-of-translational-neuroscience-in-practice
#2
Ralitsa Yordanova, Ivan Ivanov
RATIONALE, AIMS, AND OBJECTIVES: Developmental testing is essential for early recognition of the various developmental impairments. The tools used should be composed of items that are age specific, adapted, and standardized for the population they are applied to. The achievements of neurosciences, medicine, psychology, pedagogy, etc. are applied in the elaboration of a comprehensive examination tool that should screen all major areas of development. The key age of 5 years permits identification of almost all major developmental disabilities leaving time for therapeutic intervention before school entrance...
April 25, 2018: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/29691940/novel-cask-mutations-in-cases-with-syndromic-microcephaly
#3
Francesca Cristofoli, Koen Devriendt, Erica E Davis, Hilde Van Esch, Joris R Vermeesch
Mutations in CASK cause a wide spectrum of phenotypes in humans ranging from mild X-linked intellectual disability to a severe microcephaly (MC) and pontocerebellar hypoplasia syndrome. Nevertheless, predicting pathogenicity and phenotypic consequences of novel CASK mutations through the exclusive consideration of genetic information and population-based data remains a challenge. Using whole exome sequencing, we identified four novel CASK mutations in individuals with syndromic MC. To understand the functional consequences of the different point mutations on the development of MC and cerebellar defects we established a transient loss of function zebrafish model, and demonstrate recapitulation of relevant neuroanatomical phenotypes...
April 24, 2018: Human Mutation
https://www.readbyqxmd.com/read/29691912/effect-of-hybridization-with-genome-exclusion-on-extinction-risk
#4
Claudio S Quilodrán, Mathias Currat, Juan I Montoya-Burgos
Human-induced habitat changes may lead to the breakdown of reproductive barriers between distantly related species. This phenomenon may result in fertile first-generation hybrids (F1 ) that exclude the genome of one parental species during gametogenesis, thus disabling introgression. The species extinction risk associated with hybridization with genome exclusion is largely underappreciated because the phenomenon produces only F1 hybrid phenotype, leading to the misconception that hybrids are sterile and potentially of minor conservation concern...
April 24, 2018: Conservation Biology: the Journal of the Society for Conservation Biology
https://www.readbyqxmd.com/read/29691832/clinical-trials-and-management-of-osteochondral-lesions
#5
Carlos A Vilela, Alain da Silva Morais, Sandra Pina, J Miguel Oliveira, Vitor M Correlo, Rui L Reis, João Espregueira-Mendes
Osteochondral lesions are frequent and important causes of pain and disability. These lesions are induced by traumatic injuries or by diseases that affect both the cartilage surface and the subchondral bone. Due to the limited cartilage ability to regenerate and self-repair, these lesions tend to gradually worsen and progress towards osteoarthritis. The clinical, social, and economic impact of the osteochondral lesions is impressive and although therapeutic alternatives are under discussion, a consensus is not yet been achieved...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29691707/the-multiple-deficit-model-of-dyslexia-what-does-it-mean-for-identification-and-intervention
#6
Jeremiah Ring, Jeffrey L Black
Research demonstrates that phonological skills provide the basis of reading acquisition and are a primary processing deficit in dyslexia. This consensus has led to the development of effective methods of reading intervention. However, a single phonological deficit is not sufficient to account for the heterogeneity of individuals with dyslexia, and recent research provides evidence that supports a multiple-deficit model of reading disorders. Two studies are presented that investigate (1) the prevalence of phonological and cognitive processing deficit profiles in children with significant reading disability and (2) the effects of those same phonological and cognitive processing skills on reading development in a sample of children that received treatment for dyslexia...
April 24, 2018: Annals of Dyslexia
https://www.readbyqxmd.com/read/29691685/adherence-and-health-literacy-as-related-to-outcome-of-patients-treated-for-rheumatoid-arthritis-analyses-of-a-large-scale-observational-study
#7
J G Kuipers, M Koller, F Zeman, K Müller, J U Rüffer
BACKGROUND: Disabilities in daily living and quality of life are key endpoints for evaluating the treatment outcome for rheumatoid arthritis (RA). Factors possibly contributing to good outcome are adherence and health literacy. METHODS: The survey included a representative nationwide sample of German rheumatologists and their patients with RA. The physician questionnaire included the disease activity score (DAS28) and medical prescriptions. The patient questionnaire included fatigue (EORTC QLQ-FA13), health assessment questionnaire (HAQ), quality of life (SF-12), health literacy (HELP), and patients' listings of their medications...
April 24, 2018: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/29691375/thc-exposure-of-human-ipsc-neurons-impacts-genes-associated-with-neuropsychiatric-disorders
#8
Boris Guennewig, Maina Bitar, Ifeanyi Obiorah, James Hanks, Elizabeth A O'Brien, Dominik C Kaczorowski, Yasmin L Hurd, Panos Roussos, Kristen J Brennand, Guy Barry
There is a strong association between cannabis use and schizophrenia but the underlying cellular links are poorly understood. Neurons derived from human-induced pluripotent stem cells (hiPSCs) offer a platform for investigating both baseline and dynamic changes in human neural cells. Here, we exposed neurons derived from hiPSCs to Δ9 -tetrahydrocannabinol (THC), and identified diagnosis-specific differences not detectable in vehicle-controls. RNA transcriptomic analyses revealed that THC administration, either by acute or chronic exposure, dampened the neuronal transcriptional response following potassium chloride (KCl)-induced neuronal depolarization...
April 25, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29691248/understanding-influences-on-the-uptake-of-pulmonary-rehabilitation-in-the-east-of-england-an-inclusive-design-mixed-methods-study-protocol
#9
Yuanyuan Liu, Terry Dickerson, Frances Early, Jonathan Fuld, P John Clarkson
INTRODUCTION: 1.2 million people in the UK have chronic obstructive pulmonary disease (COPD) that causes breathlessness, difficulty with daily activities, infections and hospitalisation. Pulmonary rehabilitation (PR), a programme of supervised exercise and education, is recommended for patients with COPD. However, only 1 in 10 of those who need it receive PR. Also, the UK National COPD Audit Programme concluded that the COPD treatment might not be accessible to people with disabilities...
April 24, 2018: BMJ Open
https://www.readbyqxmd.com/read/29691246/effectiveness-of-implementing-a-best-practice-primary-healthcare-model-for-low-back-pain-betterback-compared-with-current-routine-care-in-the-swedish-context-an-internal-pilot-study-informed-protocol-for-an-effectiveness-implementation-hybrid-type-2-trial
#10
Allan Abbott, Karin Schröder, Paul Enthoven, Per Nilsen, Birgitta Öberg
INTRODUCTION: Low back pain (LBP) is a major health problem commonly requiring healthcare. In Sweden, there is a call from healthcare practitioners (HCPs) for the development, implementation and evaluation of a best practice primary healthcare model for LBP. AIMS: (1) To improve and understand the mechanisms underlying changes in HCP confidence, attitudes and beliefs for providing best practice coherent primary healthcare for patients with LBP; (2) to improve and understand the mechanisms underlying illness beliefs, self-care enablement, pain, disability and quality of life in patients with LBP; and (3) to evaluate a multifaceted and sustained implementation strategy and the cost-effectiveness of the BetterBack☺ model of care (MOC) for LBP from the perspective of the Swedish primary healthcare context...
April 24, 2018: BMJ Open
https://www.readbyqxmd.com/read/29691165/acetabular-focal-chondral-lesions-are-not-associated-with-worse-outcomes-after-periacetabular-osteotomy-a-matched-group-analyses
#11
Michael D Hellman, Jeffery J Nepple, Cecilia Pascual-Garrido, Rafael J Sierra, John C Clohisy
BACKGROUND: The purpose of this study was to assess the outcomes of patients who underwent combined hip arthroscopy and periacetabular osteotomy with acetabular focal chondral defects and compare these outcomes with a group of patients without focal chondral defects. METHODS: A retrospective review looking at patients who underwent hip arthroscopy and/or periacetabular osteotomy was performed. Minimum 2-year follow-up, Tönnis grade 0-1, and a Beck chondromalacia stages 4-5 were included...
March 14, 2018: Journal of Arthroplasty
https://www.readbyqxmd.com/read/29691079/the-scleroderma-hand-manifestations-of-disease-and-approach-to-management
#12
REVIEW
Ariel A Williams, Hannah M Carl, Scott D Lifchez
Scleroderma is a rare autoimmune connective tissue disorder that often affects the hands. Manifestations in the hands include calcium deposits within the soft tissues that cause pain and may ulcerate through the skin, digital ischemia resulting in chronic wounds and digital gangrene, and joint contracture. Because of the underlying disease, patients with scleroderma have poorly vascularized tissue and a deficient soft tissue envelope, which make surgery particularly challenging. However, when undertaken with care, surgical intervention is often the best option for addressing the disabling hand conditions that so often accompany this disease...
April 21, 2018: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29691052/assessment-of-cervical-range-of-motion-in-patients-after-axis-fracture
#13
Andżelina Wolan-Nieroda, Andrzej Maciejczak, Grzegorz Przysada, Adrian Kużdżał, Grzegorz Magoń, Michlina Czarnota, Mariusz Drużbicki, Agnieszka Guzik
BACKGROUND: Surgical treatment of odontoid fractures with posterior C1/C2 fusion always leads to severe limitations in mobility of the cervical spine and head. PURPOSE: To assess the mobility of the cervical spine in patients treated with various surgical methods after an axis body fracture. MATERIAL AND METHODS: A group of 61 subjects receiving surgical treatment in a group of 214 subjects treated for odontoid fractures at one ward of neurosurgery at a regional hospital...
December 6, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29691040/progress-in-understanding-and-treating-scn2a-mediated-disorders
#14
REVIEW
Stephan J Sanders, Arthur J Campbell, Jeffrey R Cottrell, Rikke S Moller, Florence F Wagner, Angie L Auldridge, Raphael A Bernier, William A Catterall, Wendy K Chung, James R Empfield, Alfred L George, Joerg F Hipp, Omar Khwaja, Evangelos Kiskinis, Dennis Lal, Dheeraj Malhotra, John J Millichap, Thomas S Otis, Steven Petrou, Geoffrey Pitt, Leah F Schust, Cora M Taylor, Jennifer Tjernagel, John E Spiro, Kevin J Bender
Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. SCN2A encodes the neuronal sodium channel NaV 1.2. Functional assays demonstrate strong correlation between genotype and phenotype. This insight can help guide therapeutic decisions and raises the possibility that ligands that selectively enhance or diminish channel function may improve symptoms. The well-defined function of sodium channels makes SCN2A an important test case for investigating the neurobiology of neurodevelopmental disorders more generally...
April 22, 2018: Trends in Neurosciences
https://www.readbyqxmd.com/read/29689754/hydrogen-absorbing-alloy-based-metal-hydride-actuation-for-application-in-rehabilitative-systems
#15
Kyong Kim, Seong Hyun Kim, Sung Hoon Kim, Chang Ho Yu
BACKGROUND: A lightweight rehabilitation assisting system is required to help the aged and disabled with daily life activities, thereby improving the quality of their lives. OBJECTIVE: This paper discusses the development of a metal-hydride (MH) actuator, with excellent heat transfer performance, for application in a rehabilitative system incorporating an MH module. METHODS: The operating mechanism of MH actuators requires that the mechanical power of the pneumatic actuator only be generated via heat transfer through a Peltier element and the absorption/desorption of a hydrogen-contained MH module...
April 10, 2018: Technology and Health Care: Official Journal of the European Society for Engineering and Medicine
https://www.readbyqxmd.com/read/29689733/a-qualitative-approach-to-health-related-quality-of-life-in-congenital-muscular-dystrophy
#16
Kylie M Cornwall, Russell J Butterfield, Antonio Hernandez, Chad Heatwole, Nicholas E Johnson
Congenital muscular dystrophies (CMD) cause progressive muscle weakness resulting in severe motor disabilities. Previous studies focused on the effects of motor disability. Here, we explore other factors affecting health related quality-of-life (HRQOL) in CMD. Qualitative interviews were conducted with participant-parent dyads to identify symptoms having the greatest impact on HRQOL. Symptoms were classified into themes and domains representing physical, mental, social health, and disease specific issues. Social role limitations and specific activity impairment were frequently mentioned...
April 16, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29689069/health-related-quality-of-life-in-patients-with-venous-leg-ulcer-treated-in-primary-care-in-brazil-and-portugal
#17
Sandra Maria da Solidade Simões de Oliveira Torres, Rhayssa de Oliveira E Araújo, Isabelle Katherinne Fernandes Costa, Manuela Pinto Tibúrcio, Amanda Jessica Gomes de Sousa, Aline Maino Pergola-Marconato, Thalyta Cristina Mansano-Schlosser, Marina de Góes Salvetti, Felismina Rosa Parreira Mendes, Gilson de Vasconcelos Torres, Eulalia Maria Chaves Maia
BACKGROUND: Venous ulcers constitute an important public health problem as they can cause disability with consequences for multiple dimensions of quality of life. OBJECTIVE: To describe the quality of life in patients with venous leg ulcer treated in primary care in two cities from Brazil and Portugal. METHODS: This was a cross-sectional comparative study with a non-probabilistic sample of 171 patients with venous leg ulcers who were treated in primary care in two cities from Brazil and Portugal, namely, Natal and Évora...
2018: PloS One
https://www.readbyqxmd.com/read/29688841/dose-effects-of-mycophenolate-mofetil-in-chinese-patients-with-neuromyelitis-optica-spectrum-disorders-a-case-series-study
#18
Yujuan Jiao, Lei Cui, Weihe Zhang, Chunyu Zhang, Yeqiong Zhang, Xin Zhang, Jinsong Jiao
BACKGROUND: Neuromyelitis optica (NMO) spectrum disorder (NMOSD) is a devastating autoimmune inflammatory disorder of the central nervous system, which can result in blindness or paralysis. Currently, there is a dire need for new treatment options in the clinic. Several case series have shown that mycophenolate mofetil (MMF) may be an effective treatment for NMOSD patients. The dosing of MMF in the treatment of NMOSD has been poorly studied. Therefore, we evaluated the efficacy, tolerability, influential factors and optimal dosage of MMF in Chinese patients with NMOSD...
April 23, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29688647/-position-statement-for-intermittent-catheterization-of-urinary-bladder
#19
Michael Vainrib, Kobi Stav, Ilan Gruenwald, Gabriel Gilon, Shahar Aharony, Miki Gross, Vadim Bluvshtein, Yakova Kauffman
A position paper presents the standpoint of the Israeli Urological Association on clean intermittent catheterization (CIC) for all physicians and nurses. The position paper is based on international guidelines and professional literature and is adapted to medical activities in Israel. CIC is indicated for the treatment of temporary/permanent disability in the emptying of the bladder, which is expressed by large post-voided urine/urine retention and related complications. There are a few contra-indications for CIC (low bladder volume or compliance, pressure sores/external infection of the urethra, anatomical, functional or cognitive disorder that does not allow to perform CIC, recurrent macrohematuria or urethrorrhagia, urethral pain that does not allow frequent catheterization, patient unwillingness to perform CIC by himself or by another person)...
April 2018: Harefuah
https://www.readbyqxmd.com/read/29688643/-fmr1-premutation-carriers-are-they-really-asymptomatic
#20
REVIEW
Shai Elizur, Michal Berkenstadt, Liat Ries-Levavi, Noah Gruber, Orit Pinhas-Hamiel, Sharon Hassin-Baer, Annick Raas-Rothschild, Hila Raanani, Tali Cukierman-Yaffe, Raoul Orvieto, Yoram Cohen, Lidia Gabis
Fragile X Syndrome (FXS), the most common form of inherited mental retardation, is caused by a trinucleotide repeat expansion (CGG) in the 5'-untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene located at Xq27.3. Patients with fragile X -related mental retardation, carry the full mutation CGG-repeat expansions (>200 CGG repeats), which are generally accompanied by hypermethylation of the promoter region, with the consequent transcriptional silencing of the FMR1 gene and absence of the encoded FMR1 protein (FMRP)...
April 2018: Harefuah
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