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Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33
Altern Ther Health Med. 2023 Sep 15:AT8915. Online ahead of print.ABSTRACTWolf-Hirschhorn syndrome (WHS) (OMIM 194190) is a contiguous gene syndrome with an estimated prevalence of around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region-WHSCR) on chromosome 4p16.3. Its core features are typical facial gestalt, growth retardation, intellectual disability, developmental delay, and seizures. Prenatal diagnosis of WHS helps clinicians and parents make informed decisions about pregnancy management. In this research, a 31-year-old woman (gravida 1, para 0) ...
Source: Alternative Therapies in Health and Medicine - September 14, 2023 Category: Complementary Medicine Authors: Huili Luo Ruijie Chang Fangfang Liu Xia Gao Source Type: research
Aphantasia within the framework of neurodivergence: Some preliminary data and the curse of the confidence gap
Conscious Cogn. 2023 Sep 12;115:103567. doi: 10.1016/j.concog.2023.103567. Online ahead of print.ABSTRACTAphantasia is a neurocognitive phenomenon affecting voluntary visual imagery, such that it is either entirely absent, or markedly impaired. Using both the social and medical models of disability, this article discusses the extent to which aphantasia can be understood as a disorder or just a form of neutral neurodivergence, given that imagery plays a central role in thinking and memory for most other people. Preliminary school performance data are presented, showing that low imagery does not necessarily complicate life, ...
Source: Consciousness and Cognition - September 14, 2023 Category: Neurology Authors: Merlin Monzel Carla Dance Elena Aza ñón Julia Simner Source Type: research
Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33
Altern Ther Health Med. 2023 Sep 15:AT8915. Online ahead of print.ABSTRACTWolf-Hirschhorn syndrome (WHS) (OMIM 194190) is a contiguous gene syndrome with an estimated prevalence of around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region-WHSCR) on chromosome 4p16.3. Its core features are typical facial gestalt, growth retardation, intellectual disability, developmental delay, and seizures. Prenatal diagnosis of WHS helps clinicians and parents make informed decisions about pregnancy management. In this research, a 31-year-old woman (gravida 1, para 0) ...
Source: Alternative Therapies in Health and Medicine - September 14, 2023 Category: Complementary Medicine Authors: Huili Luo Ruijie Chang Fangfang Liu Xia Gao Source Type: research
Aphantasia within the framework of neurodivergence: Some preliminary data and the curse of the confidence gap
Conscious Cogn. 2023 Sep 12;115:103567. doi: 10.1016/j.concog.2023.103567. Online ahead of print.ABSTRACTAphantasia is a neurocognitive phenomenon affecting voluntary visual imagery, such that it is either entirely absent, or markedly impaired. Using both the social and medical models of disability, this article discusses the extent to which aphantasia can be understood as a disorder or just a form of neutral neurodivergence, given that imagery plays a central role in thinking and memory for most other people. Preliminary school performance data are presented, showing that low imagery does not necessarily complicate life, ...
Source: Consciousness and Cognition - September 14, 2023 Category: Neurology Authors: Merlin Monzel Carla Dance Elena Aza ñón Julia Simner Source Type: research
Prenatal Diagnosis and Molecular Cytogenetic Analyses of a de novo Deletion on Chromosome 4p16.3p15.33
Altern Ther Health Med. 2023 Sep 15:AT8915. Online ahead of print.ABSTRACTWolf-Hirschhorn syndrome (WHS) (OMIM 194190) is a contiguous gene syndrome with an estimated prevalence of around 1 in 50,000 births. The syndrome is caused by the deletion of a critical region (Wolf-Hirschhorn Syndrome Critical region-WHSCR) on chromosome 4p16.3. Its core features are typical facial gestalt, growth retardation, intellectual disability, developmental delay, and seizures. Prenatal diagnosis of WHS helps clinicians and parents make informed decisions about pregnancy management. In this research, a 31-year-old woman (gravida 1, para 0) ...
Source: Alternative Therapies in Health and Medicine - September 14, 2023 Category: Complementary Medicine Authors: Huili Luo Ruijie Chang Fangfang Liu Xia Gao Source Type: research
Electrical dry needling versus a non-invasive multicomponent intervention in the treatment of myofascial trigger points in patients with chronic low back pain: A randomised clinical trial
CONCLUSIONS: In comparison to a non-invasive multicomponent intervention, electrical dry needling has more positive effects on disability, pain intensity, kinesiophobia, and reducing patients' sensitivity to myofascial trigger points pressure, at post-treatment and at 2 months.CLINICAL TRIAL REGISTRATION NUMBER: NCT04804228. Registered on May 28th, 2021. Available at https://clinicaltrials.gov/ct2/show/NCT04804228.PMID:37700695 | DOI:10.1177/02692155231201589
Source: Clinical Rehabilitation - September 13, 2023 Category: Rehabilitation Authors: Inmaculada Carmen Lara-Palomo Eduardo Antequera-Soler Manuel Fern ández-Sánchez Adelaida Mar ía Castro-Sánchez H éctor García-López Source Type: research
Postbiotic as Novel Alternative Agent or Adjuvant for the Common Antibiotic Utilized in the Food Industry
CONCLUSION: Postbiotic constituents may be a new approach for utilization in the pharmaceutical and food sectors for developing therapeutic treatments. Further metabolomics investigations are required to describe novel postbiotics and clinical trials are also required to define the sufficient dose and optimum administration frequency of postbiotics.PMID:37702234 | DOI:10.2174/1389201025666230912123849
Source: Current Pharmaceutical Biotechnology - September 13, 2023 Category: Biotechnology Authors: Sama Sepordeh Amir Mohammad Jafari Sara Bazzaz Amin Abbasi Ramin Aslani Sousan Houshmandi Aziz Homayouni Rad Source Type: research
Turn-taking and communication modes of students and staff in group activities at non-inclusive schools for students with intellectual disability
Augment Altern Commun. 2023 Sep 13:1-12. doi: 10.1080/07434618.2023.2243517. Online ahead of print.ABSTRACTMost students with intellectual and communicative disability who rely on augmentative and alternative communication (AAC) attend non-inclusive school settings. Little is known about turn-taking and the use of various communication modes in groups of students and staff in this context. Previous studies on single students with intellectual disability in various school settings have found that staff tend to dominate interactions and augmented communication modes are used more during structured than unstructured activitie...
Source: Augmentative and Alternative Communication - September 13, 2023 Category: Speech-Language Pathology Authors: Sofia Wallin Helena Hemmingsson Gunilla Thunberg Jenny Wilder Source Type: research
Self-management Experience of Nurses Living with Migraine: A Qualitative Study
CONCLUSION: The implications of these findings support the incorporation of a critical approach to relational engagement that is person-centred including nonjudgemental, strength-based care as a practice approach when caring for persons living with migraines and the need to include experiential learning in educational curriculums as a strategy to reduce stigma against migraines.PMID:37700606 | DOI:10.1177/08445621231199652
Source: The Canadian Journal of Nursing Research - September 13, 2023 Category: Nursing Authors: Marionette Ngole Dione Lorie Donelle Victoria Smye Deanna Befus Source Type: research
Development of an ontology to characterize mental functioning
CONCLUSIONS: Challenges emerged in the extent to which we could directly align components in the ICF into an applied ontology of mental functioning. These conceptual challenges required rearrangement of ICF components to adequately support our use case within the social security disability determination process. Findings also have implications to support future NLP efforts for behavioral health outcomes and policy research.PMID:37702040 | DOI:10.1080/09638288.2023.2252337
Source: Disability and Rehabilitation - September 13, 2023 Category: Rehabilitation Authors: Maryanne J Sacco Guy Divita Elizabeth Rasch Source Type: research
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency
In conclusion, LLS is a rare genetic disorder mostly characterized by a wide range of developmental and neurological symptoms. Early diagnosis would allow to start of care programs, clinical follow up, prospective studies and appropriate genetic counseling, to promote clinical and social improvement to have profound lifelong benefits for patients and their families. Further research is needed to better understand the underlying mechanisms of the syndrome related to SOX5 haploinsufficiency.PMID:37702321 | DOI:10.1111/cge.14423
Source: Clinical Genetics - September 13, 2023 Category: Genetics & Stem Cells Authors: Jair Tenorio-Castano Ángela Sánchez-Algaba Gómez M ónica Coronado Pilar Rodr íguez-Martín Alejandro Parra Patricia Pascual Mario Cazalla Natalia Gallego Pedro Arias Aixa V Morales Juli án Nevado Pablo Lapunzina Source Type: research
