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941
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder
Published 2024-01-01“…MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with disorders including Charcot-Marie-Tooth type 2Z disease, spinal muscular atrophy and, more recently, a neurodevelopmental syndrome consisting of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN), presenting with hypotonia, microcephaly, brain atrophy, intellectual disability, hearing loss, faltering growth, and craniofacial dysmorphism. …”
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942
The Urban Built Environment and Mobility in Older Adults: A Comprehensive Review
Published 2011-01-01“…We reviewed recent research (1990–2010) that examined associations of objective measures of the built environment with mobility and disability in adults aged 60 years or older. Seventeen empirical articles were identified. …”
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943
Cognitive interviews on the Swedish occupational balance questionnaire
Published 2024-12-01“…One aspect of this is studying the interpretations and reasoning of people responding to the items/instrument.Aim The aim of this study was to explore and describe how adults interpret and reason in relation to OBQ11 overall, the individual items in the instrument as well as the new tentative items.Method Cognitive interviews were conducted with eight participants varying in age, gender, living situation, education, native language, and self-reported disability. They were included using a combination of purposive and convenience sampling. …”
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944
Glosa aprobująca do wyroku Sądu Wojewódzkiego w Szczecinie z dnia 10 marca 2022 r., II SA/Sz 1285/21
Published 2024-01-01“…The case involved an application for nursing benefits on the grounds that the party had given up employment or other gainful activity to care for a brother-in-law with a disability. The party was denied the benefit. It filed a complaint with the Regional Administrative Court. …”
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945
Lateral Subtalar Dislocation with Tarsometatarsal Dislocation: A Case Report of a Rare Injury
Published 2017-01-01“…His Foot and Ankle Disability Index and American Orthopaedic Foot and Ankle Society scores were 64 and 65 points, respectively. …”
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946
Targeted correction of megabase-scale CNTN6 duplication in induced pluripotent stem cells and impacts on gene expression
Published 2025-01-01“…Copy number variations of the human CNTN6 gene, resulting from megabase-scale microdeletions or microduplications in the 3p26.3 region, are frequently implicated in neurodevelopmental disorders such as intellectual disability and developmental delay. However, duplication of the full-length human CNTN6 gene presents with variable penetrance, resulting in phenotypes that range from neurodevelopmental disorders to no visible pathologies, even within the same family. …”
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947
Gait and Function in Class III Obesity
Published 2012-01-01“…This observational study examined the components of function and disability in a group with Class III obesity and a group that is overweight or has Class I obesity. …”
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948
Surgical Treatment of Posttraumatic Radioulnar Synostosis
Published 2016-01-01“…The formation of a bony bridge induces functional disability due to limitation of the pronosupination. …”
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949
Factors Affecting the Quality of Life of the Elderly in Iraq and Turkiye and Differences Between the Two Cultures
Published 2023-01-01“…In Iraq, factors affecting low QOL were age 85 years and older, female gender, being single, low educational level, not having a regular salary, insufficient income, chronic disease, drug use and disability. Factors effective on high QOL were eating healthily, walking or exercising regularly, praying five times a day, and reading the Qur'an in Iraq. …”
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950
Psychological Factors Associated with Phantom Limb Pain: A Review of Recent Findings
Published 2018-01-01“…Additional factors such as the amount of disability and adjustment to the amputation appear to also play a role. …”
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951
Neurological ct Scan Value for Ictus in Cienfuegos Province
Published 2007-05-01“…It incorporated the Fisher and Le Roux scales showing their prognosis value with elevated measures for deceased patients and decreased values for survivors without disability. <strong>Conclusions:</strong> The diagnosis and prognosis value were proved as well as CT scan behavior in our milieu. …”
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952
"Magic Dirt": Transcending Great Divides in Scott McClanahan's Crapalachia
Published 2024-10-01“…McClanahan tells family stories of deforestation and disability, mining disasters and mental illness, structural poverty and opportunities denied. …”
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953
Web Accessibility Status of Open Access Journals in Africa: A 2024 Snapshot
Published 2024-12-01“…The access to OAJs is primarily via the Web, which still present barriers to persons with disabilities. Currently, 16% of the world's population lives with some form of disability and cannot enjoy equal access to the Web. …”
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954
Characteristic Processes in Close Peer Friendships of Preterm Infants at Age 12
Published 2012-01-01“…Twenty adolescents were unable to participate due to scheduling conflicts or developmental disability. Characteristic friendship behaviors were identified by Q-sort followed by Q-factoring analysis. …”
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955
Brain-Derived Neurotrophic Factor and Nerve Growth Factor Therapeutics for Brain Injury: The Current Translational Challenges in Preclinical and Clinical Research
Published 2022-01-01“…Ischemic stroke and traumatic brain injury (TBI) are among the leading causes of death and disability worldwide with impairments ranging from mild to severe. …”
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956
The impact of health on economic and social outcomes in the United Kingdom: A scoping literature review.
Published 2018-01-01“…Among older adults, the evidence quite consistently indicated an association between mental health, chronic conditions, disability/functional limitations, self-rated general health and quality of life, life satisfaction and early retirement. …”
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957
Robust Human Machine Interface Based on Head Movements Applied to Assistive Robotics
Published 2013-01-01“…The system is evaluated by four individuals with severe motors disability and a quantitative index was developed, in order to objectively evaluate the performance. …”
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958
Specificity of Cognitive Impairment in Neurological Disease: A Methodological Critique of Parkinson’s Disease
Published 1991-01-01“…The following recommendations are made: rigid diagnostic criteria; representative patient groups; avoidance of arbitrary quantitative criteria to limit definitions of dementia; matching of groups for overall level of cognitive impairment in the search for qualitative cognitive differences related to neuropathology or effects of particular drugs; the use of suitable controls in patient groups, neuropsychological tests and treatment regimes; the use of specific quantitative tests of cognition, affect and motor disability; and longitudinal, compared with cross-sectional, study design.…”
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959
Rational Suicide, Euthanasia, and the Very Old: Two Case Reports
Published 2016-01-01“…Palliative care models promote best care as holistic and relieving suffering without hastening death in severely ill patients; but what of those old people who are tired of living and may have chronic symptoms, disability, and reduced quality of life? Two cases of older people who attempted suicide but expressed a preference for euthanasia were it legal are presented in order to illustrate the complexity underlying such requests. …”
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960
Laser Application for Diseases of the Anorectal Region
Published 2024-10-01“…Lazer intervention technologies in the treatment of anorectal diseases such as haemorrhoids, anal fistula, anal fissure and pilonidal disease makes it possible to significantly reduce the intensity of pain syndrome, shorten the time of wound healing and also reduce the duration of the period of disability of the patient without worsening the quality of life. …”
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