Results 51 to 60 of about 532,008 (348)

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Otras Perspectivas (Other Perspectives), Volume 17, Issue 01, January 2016 [PDF]

, 2016
Acknowledging that the success of the Occupational Therapy Program hinges on the mutual investment of community and friends beyond the local community, the UNM Occupational Therapy Program faculty and staff have initiated this newsletter.
Occupational Therapy Graduate Program
core   +1 more source

Serving High-Risk Youth in Context: Perspectives from Hong Kong [PDF]

, 2019
Background: High-risk youth are often defined in occupational therapy terminology as adolescents and young adults who experience personal, contextual, or environmental barriers to effective participation in healthy, age-appropriate occupations.
Haworth, Christine, Jackson, Nancy, Shea, Chi-Kwan   +2 more
core   +2 more sources

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Noninvasive tests for nonalcoholic fatty liver disease in a multi‐ethnic population: The HELIUS study

Hepatology Communications, EarlyView., 2022
Abstract Nonalcoholic fatty liver disease (NAFLD) is increasing in prevalence and severity globally, prompting noninvasive testing, yet limited data exist on noninvasive liver tests (NITs) including transient elastography (TE) in ethnically diverse populations.
Anne‐Marieke van Dijk, Yasaman Vali, Anne Linde Mak, Henrike Galenkamp, Max Nieuwdorp, Bert‐Jan van den Born, Adriaan Georgius Holleboom   +6 more
wiley   +1 more source

Supporting the Recovery of NDIS Participants With Psychosocial Disability: A Narrative Literature Review

Australian Journal of Social Issues, EarlyView.
ABSTRACT This narrative literature review examines key issues surrounding psychosocial disability support in the National Disability Insurance Scheme (NDIS). It highlights the NDIS's neoliberal approach to support, which has underpinned a lack of clarity around the conceptualisation of psychosocial disability and recovery.
Johnny Choi, Kathy Ellem, John Drayton
wiley   +1 more source

Occupational Therapy Newsletter, Spring 2024 [PDF]

Highlights: Dr. Mary-Ellen Johnson Retires, Busher and Weinstein Awards 2023, ConnOTA Fall SIS Conference, Capstone Presentations, Department News: Dr. Stefanie Seanor, Professor Morgan Villano, Professor Nicole Peloso Smith, Newly Elected Officials for ...
Occupational Therapy Department,
core   +1 more source

Animal models of lung cancer: Phenotypic comparison of different animal models of lung cancer and their application in the study of mechanisms

Animal Models and Experimental Medicine, EarlyView.
Grafts used to construct lung cancer animal models come from various sources, primarily cell lines, patient‐derived tumor tissues, and circulating tumor cells. Based on the sources of grafts and research objectives, lung cancer animal models can be categorized into several types: chemical‐induced models, orthotopic transplantation models, heterotopic ...
Zixuan Yang, Xianbin Zhao, Lili Tan, Pingxinyi Que, Tong Zhao, Wei Huang, Dejiao Yao, Songqi Tang   +7 more
wiley   +1 more source