Scandinavian Journal of Disability Research最新文献

{"title":"A Novel Variant in the PAX4 Gene Causes Maturity-Onset Diabetes of the Young (MODY), Type IX with Neurodevelopmental Disorder","authors":"Tayyaba Afsar, Ahmed Waqas, A. Nayab, S. Abbas, Arif Mahmood, Muhammad Umair, S. Razak","doi":"10.57197/jdr-2023-0018","DOIUrl":"https://doi.org/10.57197/jdr-2023-0018","url":null,"abstract":"A genetically diverse condition, maturity-onset diabetes of the young (MODY), frequently develops before the age of 25. MODY is caused by disease-causing sequence variations in the PAX4 gene, which is found on chromosome 7q32.1. Additionally, it has also been observed that variants in PAX4 have also been associated with neurodevelopmental disability. Whole exome sequencing (WES) followed by Sanger sequencing was performed for all the available affected and unaffected members of the family. Data analysis revealed a novel heterozygous nonsense variant (c.61C>T; p.Gln21*) in the PAX4 gene in the affected individuals, which segregated perfectly with the disease phenotype. The present study adds to the PAX4 mutation spectrum and reports on the first case of MODY associated with neurodevelopmental disorders in humans.","PeriodicalId":46073,"journal":{"name":"Scandinavian Journal of Disability Research","volume":"75 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74174783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing the Inclusion of Individuals with Disabilities\u0000†","authors":"P. Paul","doi":"10.57197/jdr-2023-0013","DOIUrl":"https://doi.org/10.57197/jdr-2023-0013","url":null,"abstract":"Inclusion of individuals with disabilities continues to be a controversial construct with mixed research findings on its effectiveness. Progress in inclusion is dependent, in part, on understanding two major themes: the acquisition of content knowledge and variety in the means of delivering and evaluating such knowledge. To address these themes, this article provides the synthesis of selected empirical and research integrative works on two constructs: the qualitative similarity hypothesis and literate thought. Although most of the cited research on these constructs has been conducted on d/Deaf and hard of hearing individuals, the principles and findings can be applied to other individuals with disabilities. In essence, it is argued that these two constructs can and do facilitate the inclusion of individuals in educational settings.","PeriodicalId":46073,"journal":{"name":"Scandinavian Journal of Disability Research","volume":"17 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88313239","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Experiences of Neurodivergent People When Playing an Educational Video Game About Their Own Diagnosis","authors":"Lisanne Meinen","doi":"10.16993/sjdr.1037","DOIUrl":"https://doi.org/10.16993/sjdr.1037","url":null,"abstract":"","PeriodicalId":46073,"journal":{"name":"Scandinavian Journal of Disability Research","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135611565","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Overview on Low Back Pain and Functional Disability: Associated Risk Factors and Management","authors":"Walid Kamal, A. Sulieman","doi":"10.57197/jdr-2022-0004","DOIUrl":"https://doi.org/10.57197/jdr-2022-0004","url":null,"abstract":"\u0000Recently, low back pain (LBP) has been a major contributor to disability worldwide. Chronic LBP affects 80% of the population at some point. The incidence of LBP is on the rise, especially among the elderly, and it is more common in men than in women. The different aspects of one’s life, such as a history of mental illness, being overweight, smoking, not getting enough exercise, getting older, and leading a sedentary lifestyle, all increase the likelihood of developing LBP. According to research, there are a number of causes and contributing factors that add up to a hefty price tag for disabled people. Functional disability in chronic LBP can be caused in part by causes other than the disease itself, such as psychological and professional variables, and can put restrictions on one’s personal life, work life, and family life. According to a recent study, more than 80% of those with a functional disability were classified as having a moderate-to-severe impairment. Therefore, we have proposed this review to clarify the appropriate assessment and interventional modalities for LBP and reduce disability. The diagnosis of LBP may need physical examination as well as imaging procedures to rule out the possibility of other ailments, such as broken bones. There is more than one technique to treat the underlying causes of LBP. Interventions include several modalities, including medication, physical therapy, manual therapy, injections, and surgery. In terms of pain treatment, we could choose between over-the-counter nonsteroidal anti-inflammatory drugs (NSAIDs) and prescribed drugs. Back spasms can be treated with other medications that relax the muscles in the back. Physiotherapy can help an individual build up the core muscles that protect the spine. Physical therapy can help individuals to stay injury-free by doing more than just increasing the range of motion. Tense muscles can be relaxed, pain can be lessened, and posture and alignment can be enhanced through a series of sessions.","PeriodicalId":46073,"journal":{"name":"Scandinavian Journal of Disability Research","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80116199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Structure and Mechanical Properties of Type IV Collagen in Lens Basement Membrane: Deterioration with Age and Glycation Reviewed","authors":"D. A. Bradley","doi":"10.57197/jdr-2022-0003","DOIUrl":"https://doi.org/10.57197/jdr-2022-0003","url":null,"abstract":"Biomedical physics seeks to confront the amazingly intricate sets of interlinked processes that when in synchrony sustain life. In so doing, questions arise regarding the functionality of cells, organised tissues and organs and the myriad interactional processes required, and also as to how the onset of disease limits viability and what possible repair processes can be caused to happen, including in biosynthetic routes. It is clearly a multidisciplinary field providing a multi-pronged array of endeavours, bringing into play concepts and tools within the armoury of physics, chemistry, engineering, mathematics, and all of the applied areas that arise from these. As expected, the pursuit is beset by ignorance and in the absence of a polymath, the ability to progress is clearly a team effort. Not least among the challenges are that oftentimes the medium under investigation no longer enjoys the vitality of life, including when using in vitro techniques acknowledging that in excised tissues repair processes are clearly inoperative. As such, questions inevitably arise as to whether the results of an investigation bear resemblance to that of the living entity. Here, we will focus on just one example of such a pursuit, namely investigations of degraded vision arising from alterations in the basement membrane (BM). We address alterations that may arise from diabetes and ageing, which are changes that bring about life-altering disability. In examining this one area of biophysical investigation, we hope that the reader will gain a degree of appreciation of the need for such studies even if, as here, we simply represent just one particular aspect of what are clearly complex areas. At the outset, we simply mention that the BM forming the eye lens capsule is a highly specialised form of extracellular matrix in which the major structural element is a network of type IV collagen. Changes in the structure and mechanical properties of the BM are believed to be associated with the pathophysiology of ageing and diseases, including diabetes and cancer.","PeriodicalId":46073,"journal":{"name":"Scandinavian Journal of Disability Research","volume":"33 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81056617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Collagen Structure Orientation at the Bone–Cartilage Interface","authors":"D. A. Bradley, O. Gundogdu, O. Bunk","doi":"10.57197/jdr-2022-0002","DOIUrl":"https://doi.org/10.57197/jdr-2022-0002","url":null,"abstract":"\u0000The articular cartilage overlying subchondral bone consists of variously oriented collagen fibres, the detailed organisation of which is essential for cartilage integrity that has suffered damage in degenerative joint disease such as osteoarthritis (OA). A technique attracting particular interest is that of coherent small-angle X-ray scattering mapping; the present investigations are supported by PILATUS, a highly pixelated two-dimensional detector system developed at the Paul Scherrer Institute (PSI). The system has yielded information on the anatomical features that correspond to the large-scale organisation of collagen and the mineralised phase contained within the collagen fibres in the deep cartilage zone. Results obtained from a decalcified cartilage–bone sample have been plotted in terms of the orientation of cartilage and bone components for particular intervals of k-space, showing the organisation of collagen-II within superficial layers and collagen-X in the chondrocyte-rich deeper layers of cartilage. It is apparent in undamaged cartilage that there is a gradual reorientation of the collagen-II fibres of the cartilage, from parallel to the surface of the joint, to normal to the cartilage–bone interface. A similar pattern of orientation is seen below the cement line (the surface at which cartilage anchors to the bone), for the collagen type-I prevalent in bone. Changing the interval of k-space allows subchondral features such as the microvasculature to be seen.","PeriodicalId":46073,"journal":{"name":"Scandinavian Journal of Disability Research","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85127674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Launch of the Journal of Disability Research","authors":"D. A. Bradley","doi":"10.57197/jdr-2022-0001","DOIUrl":"https://doi.org/10.57197/jdr-2022-0001","url":null,"abstract":"","PeriodicalId":46073,"journal":{"name":"Scandinavian Journal of Disability Research","volume":"27 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86116401","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lived Employment Experiences of Persons with Physical Disabilities in Nepal: A Phenomenological Study","authors":"Samridhi Rana, Nina Murray, K. Sapkota, P. Gurung","doi":"10.16993/sjdr.860","DOIUrl":"https://doi.org/10.16993/sjdr.860","url":null,"abstract":"","PeriodicalId":46073,"journal":{"name":"Scandinavian Journal of Disability Research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43047704","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Self-Employment for People with Disabilities: Barriers to and (Im)possibilities in Starting and Running Their Own Business","authors":"M. Norstedt, Per Germundsson","doi":"10.16993/sjdr.909","DOIUrl":"https://doi.org/10.16993/sjdr.909","url":null,"abstract":"","PeriodicalId":46073,"journal":{"name":"Scandinavian Journal of Disability Research","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67470188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"‘A Limited Guardian Should First and Foremost Get to Know the Person He Helps’—Experiences of Having a Limited Guardian from the Perspective of Adults with Intellectual Disability","authors":"L. Hultman, M. Tideman, M. Eriksson","doi":"10.16993/sjdr.949","DOIUrl":"https://doi.org/10.16993/sjdr.949","url":null,"abstract":"","PeriodicalId":46073,"journal":{"name":"Scandinavian Journal of Disability Research","volume":"4 1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67470901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}