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https://www.readbyqxmd.com/read/28299257/cleft-lip-and-palate-parental-experiences-of-stigma-discrimination-and-social-structural-inequalities
#1
Wasiu Lanre Adeyemo, Olutayo James, Azeez Butali
BACKGROUND: Cleft lip and palate (CLP) are the most common craniofacial birth impairment and one of the most common congenital impairments in humans. Anecdotal evidence suggests that stigmatization, discrimination, and sociocultural inequalities are common "phenomenon" experienced by families of children with CLP in Nigeria. This study aimed to explore the stigmatization, discrimination, and sociocultural inequalities experiences of families with children born with CLP. MATERIALS AND METHODS: The study was carried out at the surgical outpatient cleft clinic of the Lagos University Teaching Hospital, Lagos, Nigeria...
July 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28296527/pragmatics-of-language-and-theory-of-mind-in-children-with-dyslexia-with-associated-language-difficulties-or-nonverbal-learning-disabilities
#2
Ramona Cardillo, Ricardo Basso Garcia, Irene C Mammarella, Cesare Cornoldi
The present study aims to find empirical evidence of deficits in linguistic pragmatic skills and theory of mind (ToM) in children with dyslexia with associated language difficulties or nonverbal learning disabilities (NLD), when compared with a group of typically developing (TD) children matched for age and gender. Our results indicate that children with dyslexia perform less well than TD children in most of the tasks measuring pragmatics of language, and in one of the tasks measuring ToM. In contrast, children with NLD generally performed better than the dyslexia group, and performed significantly worse than the TD children only in a metaphors task based on visual stimuli...
March 15, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/28296079/magel2-knockout-mice-manifest-altered-social-phenotypes-and-a-deficit-in-preference-for-social-novelty
#3
Michael D Fountain, Huifang Tao, Chun-An Chen, Jiani Yin, Christian P Schaaf
MAGEL2 is one of five protein-coding, maternally imprinted, paternally expressed genes in the Prader-Willi syndrome-critical domain on chromosome 15q11-q13. Truncating pathogenic variants of MAGEL2 cause Schaaf-Yang syndrome (OMIM #615547), a neurodevelopmental disorder related to Prader-Willi syndrome. Affected individuals manifest a spectrum of neurocognitive and behavioral phenotypes, including intellectual disability and autism spectrum disorder (ASD). Magel2 knockout mice carrying a maternally inherited, imprinted wildtype allele and a paternally inherited Magel2-lacZ knock-in allele, which abolishes endogenous Magel2 gene function, exhibit several features reminiscent of the human Prader-Willi phenotypes, including neonatal growth retardation, excessive weight gain after weaning, and increased adiposity in adulthood...
March 13, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28293215/classification-of-different-degrees-of-disability-following-intracerebral-hemorrhage-a-decision-tree-analysis-from-vista-ich-collaboration
#4
Thanh G Phan, Jian Chen, Richard Beare, Henry Ma, Benjamin Clissold, John Van Ly, Velandai Srikanth
BACKGROUND AND PURPOSE: Prognostication following intracerebral hemorrhage (ICH) has focused on poor outcome at the expense of lumping together mild and moderate disability. We aimed to develop a novel approach at classifying a range of disability following ICH. METHODS: The Virtual International Stroke Trial Archive collaboration database was searched for patients with ICH and known volume of ICH on baseline CT scans. Disability was partitioned into mild [modified Rankin Scale (mRS) at 90 days of 0-2], moderate (mRS = 3-4), and severe disabilities (mRS = 5-6)...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28291950/the-extremity-function-index-efi-a-disability-severity-measure-for-neuromuscular-diseases-psychometric-evaluation
#5
Isaäc Bos, Klaske Wynia, Gea Drost, Josué Almansa, Jan B M Kuks
OBJECTIVE: To adapt and to combine the self-report Upper Extremity Functional Index and Lower Extremity Function Scale, for the assessment of disability severity in patients with a neuromuscular disease and to examine its psychometric properties in order to make it suitable for indicating disease severity in neuromuscular diseases. DESIGN: A cross-sectional postal survey study was performed among patients diagnosed with a neuromuscular disease. METHODS: Patients completed both adapted extremity function scales, questionnaires for psychometric evaluation, and disease-specific questions...
March 14, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28291801/early-diagnosis-of-mild-cognitive-impairment-and-mild-dementia-through-basic-and-instrumental-activities-of-daily-living-development-of-a-new-evaluation-tool
#6
Elise Cornelis, Ellen Gorus, Ingo Beyer, Ivan Bautmans, Patricia De Vriendt
BACKGROUND: Assessment of activities of daily living (ADL) is paramount to determine impairment in everyday functioning and to ensure accurate early diagnosis of neurocognitive disorders. Unfortunately, most common ADL tools are limited in their use in a diagnostic process. This study developed a new evaluation by adopting the items of the Katz Index (basic [b-] ADL) and Lawton Scale (instrumental [i-] ADL), defining them with the terminology of the International Classification of Human Functioning, Disability and Health (ICF), adding the scoring system of the ICF, and adding the possibility to identify underlying causes of limitations in ADL...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28290244/kinematic-and-pressure-features-of-handwriting-and-drawing-preliminary-results-between-patients-with-mild-cognitive-impairment-alzheimer-disease-and-healthy-controls
#7
Josep Garre-Olmo, Marcos Faúndez-Zanuy, Karmele López-de-Ipiña, Laia Calvó-Perxas, Oriol Turró-Garriga
BACKGROUND: Alzheimer's disease (AD) is the most common neurodegenerative dementia of old age, and the leading chronic disease contributor to disability and dependence among older people worldwide. Clinically, AD is characterized by a progressive cognitive decline that interferes with the ability to perform the activities of daily living. Handwriting and drawing are complex human activities that entail an intricate blend of cognitive, kinesthetic, and perceptual-motor features. OBJECTIVE: To compare the kinematic characteristics of handwriting and drawing between patients with AD, patients with mild cognitive impairment (MCI) and healthy controls...
March 9, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28290192/further-construct-validity-of-the-timed-up-and-go-test-as-a-measure-of-ambulation-in-persons-with-multiple-sclerosis
#8
Alon Kalron, Mark Dolev, Uri Givon
BACKGROUND: The importance of mobility impairments in people with multiple sclerosis (PwMS) denotes a need for valid, reliable, sensitive and feasible clinical measuring tools. The Timed Up and Go (TUG) test is a unique mobility measure as it captures other functions apart from walking, ie, rising out of a chair or turning around an object. AIM: To expand the construct validity of the TUG test in PwMS and determine the ability of the TUG score to discriminate between four levels of disability between fallers, recurrent fallers and non-fallers...
March 13, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28286765/digital-lengthening-to-treat-finger-deficiency-an-experience-of-201-digits-in-104-patients
#9
Zhenyu Ding, Xiaozhong Zhu, Kai Fu, Xianyou Zheng
Objectives. We evaluated the results of digital lengthening by distraction and second-stage bone graft. Methods. We treated finger deficiency of 201 digits in 104 patients (68 males, 36 females) by digital distraction and second-stage bone graft. The distraction was performed with a rate of 1 mm/day (for the first ten days) and 0.5 mm/day followed by using a self-designed bilateral tubal-helical external fixator. The mean follow-up period was 42 months (range 6 to 60 months). Results. The mean lengthening was 29...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28286466/comparing-two-frailty-concepts-among-older-people-with-intellectual-disabilities
#10
Josje D Schoufour, Michael A Echteld, Heleen M Evenhuis
In general, disabilities are considered a consequence of frailty rather than a cause of frailty, whereas in people with intellectual disabilities (ID), disabilities are often lifelong, which could have consequences for the feasibility and validity of frailty instruments. To better understand frailty in people with ID, we compared two broadly used concepts: the frailty phenotype (FP) and the frailty index (FI) taking into account their feasibility (e.g., percentage of participants able to complete the frailty assessments), agreement, validity (based on 5-year mortality risk), influence of motor disability, and the relation between single frailty variables and mortality...
2017: European Journal of Ageing
https://www.readbyqxmd.com/read/28286237/retrospectively-supervised-click-decoder-calibration-for-self-calibrating-point-and-click-brain-computer-interfaces
#11
Beata Jarosiewicz, Anish A Sarma, Jad Saab, Brian Franco, Sydney S Cash, Emad N Eskandar, Leigh R Hochberg
Brain-computer interfaces (BCIs) aim to restore independence to people with severe motor disabilities by allowing control of acursor on a computer screen or other effectors with neural activity. However, physiological and/or recording-related nonstationarities in neural signals can limit long-term decoding stability, and it would be tedious for users to pause use of the BCI whenever neural control degrades to perform decoder recalibration routines. We recently demonstrated that a kinematic decoder (i.e. a decoder that controls cursor movement) can be recalibrated using data acquired during practical point-and-click control of the BCI by retrospectively inferring users' intended movement directions based on their subsequent selections...
March 8, 2017: Journal of Physiology, Paris
https://www.readbyqxmd.com/read/28279125/micrornas-as-novel-biomarkers-for-the-diagnosis-and-prognosis-of-mild-and-severe-traumatic-brain-injury
#12
Valentina Di Pietro, Marco Ragusa, David James Davies, Zhangjie Su, Jon Hazeldine, Giacomo Lazzarino, Lisa J Hill, Nicholas Crombie, Mark Foster, Michele Purrello, A Logan, Antonio Belli
Traumatic brain injury (TBI) is the leading cause of death and disability under the age of 45 years in Western countries. Despite many studies, no reliable biomarkers have been found to assess TBI severity and predict recovery. MicroRNA (miRNA) profiling has become widely used to identify biomarkers and therapeutic targets. The expression of 754 miRNAs was analysed in serum of 5 mild TBI (mTBI) with extra-cranial injury (EC) patients, 5 severe TBI (sTBI) with EC patients and 5 healthy volunteers (HV) at 1 day and 15 days post injury, by using the TaqMan® Array Human MicroRNA A+B Cards...
March 9, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28277559/association-of-a-novel-nonsense-mutation-in-kiaa1279-with-goldberg-shprintzen-syndrome
#13
Shadab Salehpour, Feyzollah Hashemi-Gorji, Ziba Soltani, Soudeh Ghafouri-Fard, Mohammad Miryounesi
Goldberg-Shprintzen syndrome (OMIM 609460) (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome distinguished by intellectual disability, microcephaly, and dysmorphic facial characteristics. Most affected individuals also have Hirschsprung disease and/or gyral abnormalities of the brain. This syndrome has been associated with KIAA1279 gene mutations at 10q22.1. Here we report a 16 yr old male patient referred to Center for Comprehensive Genetic Services, Tehran, Iran in 2015 with cardinal features of GOSHS in addition to refractory seizures...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28277014/-you-are-labelled-by-your-children-s-disability-a-community-based-participatory-study-of-stigma-among-somali-parents-of-children-with-autism-living-in-the-united-kingdom
#14
Lucy Ellen Selman, Fiona Fox, Nura Aabe, Katrina Turner, Dheeraj Rai, Sabi Redwood
OBJECTIVES: Social stigma is commonly experienced by parents of children with autism. Our aim was to understand the nature of stigma experienced by Somali parents of children with autism in the United Kingdom (UK), and to consider how they coped with or resisted such stigma. DESIGN: We used a community-based participatory research approach, collaborating with a community organisation of Somali parents. In-depth interviews with simultaneous translation were conducted with 15 Somali parents of children with autism living in Bristol, UK, in 2015...
March 2, 2017: Ethnicity & Health
https://www.readbyqxmd.com/read/28276992/a-minimally-invasive-approach-for-cubital-tunnel-release-and-ulnar-nerve-transposition
#15
Xu Zhang, Vikas Dhawan, Yadong Yu, Guisheng Zhang, Xinzhong Shao
OBJECTIVES: The aim of the study is to introduce a new minimally invasive technique for ulnar nerve release and transposition. METHODS: From January 2010 to May 2011, 51 patients with cubital tunnel syndrome were treated through a 1.5 to 2 cm incision. Limb functional recovery, scar esthetics, sensitivity of scar, numbness of the operating area, and patient satisfaction were assessed. RESULTS: No wound hematoma nor infection was observed in the group...
February 22, 2017: Physician and Sportsmedicine
https://www.readbyqxmd.com/read/28276862/excessive-decline-from-premorbid-functioning-detecting-performance-invalidity-with-the-wais-iv-and-demographic-predictions
#16
Phillip K Martin, Ben P Hunter, Amanda M Rach, Robin J Heinrichs, Ryan W Schroeder
OBJECTIVE: Excessive Decline from Premorbid Functioning (EDPF) is presented as a construct and defined as a discrepancy between predicted premorbid ability and current test performance that is so atypical of individuals with true neurocognitive impairment that it is likely the product of performance invalidity. New embedded PVTs (EDPF-FSIQ, EDPF-VW, and EDPF-PP) were derived by comparing scores from the WAIS-IV to TOPF demographically predicted premorbid estimates and then examined for classification accuracy...
February 17, 2017: Clinical Neuropsychologist
https://www.readbyqxmd.com/read/28275081/characterization-of-mirnas-expression-profiles-and-identification-of-potential-biomarkers-in-leprosy
#17
Karina T O S Jorge, Renan P Souza, Marieta T A Assis, Marcelo G Araújo, Massimo Locati, Amélia M R Jesus, Ida M F D Baptista, Cristiano X Lima, Antônio L Teixeira, Mauro M Teixeira, Frederico M Soriani
Leprosy is an important cause of disability in the developing world. Early diagnosis is essential to allow cure and interrupt transmission of this infection. MiRNAs are important factors for host-pathogen interaction and they have been identified as biomarkers for various infectious diseases. The expression profile of 377 microRNAs were analyzed by TaqMan Low Density Array (TLDA) in skin lesions of tuberculoid and lepromatous leprosy patients, as well as skin specimens from healthy controls. In a second step, sixteen microRNAs were selected for validation experiments with qRT-PCR in skin samples from new individuals...
March 8, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28272111/disability-risk-in-pediatric-motor-vehicle-crash-occupants
#18
Andrea N Doud, Samantha L Schoell, Ashley A Weaver, Jennifer W Talton, Ryan T Barnard, John K Petty, Joel D Stitzel
BACKGROUND: Mortality rates among children in motor vehicle crashes (MVCs) are typically low, however non-fatal injuries can vary in severity by imposing differing levels of short- and long-term disability. To better discriminate the severity of non-fatal MVC-injuries, a pediatric-specific disability risk (DR) metric was created. METHODS: The National Automotive Sampling System (NASS-CDS) 2000-2011 was used to define the top 95% most common Abbreviated Injury Scale (AIS) 2+ injuries among pediatric MVC occupants...
March 8, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28271947/health-assessment-questionnaire-disability-index-haq-di-score-at-the-start-of-biological-disease-modifying-antirheumatic-drug-bdmard-therapy-is-associated-with-radiographic-progression-of-large-joint-damage-in-patients-with-rheumatoid-arthritis
#19
Arata Nakajima, Yasuchika Aoki, Keiichiro Terayama, Masato Sonobe, Hiroshi Takahashi, Masahiko Saito, Koichi Nakagawa
OBJECTIVES: Radiographic progression of damage (RPD) to large joints in patients with rheumatoid arthritis (RA) has not been fully studied. We previously demonstrated that Larsen grade of the large joints was associated with RPD of large joints in patients treated with biological disease-modifying anti-rheumatic drugs (bDMARDs); however, no factors associated with background characteristics of patients were identified. METHODS: A total of 400 large joints in the upper and lower extremities, including the shoulder, elbow, knee, and ankle, of 88 patients with RA treated with bDMARDs for 1-3 years were investigated...
March 8, 2017: Modern Rheumatology
https://www.readbyqxmd.com/read/28271322/patient-benefit-from-cochlear-implantation-in-single-sided-deafness-a-1-year-follow-up
#20
Julia Louza, John-Martin Hempel, Eike Krause, Alexander Berghaus, Joachim Müller, Thomas Braun
The objective of the study was to evaluate the quality of life and benefit in patients with single-side deafness before and 1 year after cochlear implantation. In a prospective observational study design, ten adult patients with single-sided deafness undergoing cochlear implantation were included. All patients had on the implantation side no speech discrimination with normal hearing aids. The contralateral side was normal or marginal hearing loss. For determining the subject benefit from cochlear implantation, each patient answered standardized questionnaires directly before implantation and 1 year after...
March 7, 2017: European Archives of Oto-rhino-laryngology
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