Results 91 to 100 of about 621,293 (227)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

A Tailored Occupational Therapist-Led Vocational Intervention for People With Stroke: Protocol for a Pilot Randomized Controlled Trial. [PDF]

JMIR Res Protoc, 2022
O'Keefe S, Radford K, Farrin A, Oakman J, Alves-Stein S, Cloud G, Douglas J, Stanley M, Lannin NA.   +8 more
europepmc   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

Meta-Analysis of Factors Associated with Occupational Therapist Burnout. [PDF]

Occup Ther Int, 2021
Park EY.
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

What Competencies Does a Community Occupational Therapist Need in Neurorehabilitation? Qualitative Perspectives. [PDF]

Int J Environ Res Public Health, 2022
Avello-Sáez D, Helbig-Soto F, Lucero-González N, Fernández-Martínez MDM.   +3 more
europepmc   +1 more source

Understanding Arthrogryposis Multiplex Congenita (AMC) Across the Lifespan: An Integrative Review of the Adult AMC Registry's Contributions With Lived Experience Partnerships

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky, Megan K. MacGillivray, Tracey Schalk, William Bennett Mortenson   +3 more
wiley   +1 more source

Vocational Rehabilitation following Traumatic Brain Injury: What is the evidence for clinical practice?

Advances in Clinical Neuroscience & Rehabilitation, 2014
Julie Phillips, Kate Radford
doaj   +1 more source

Occupational therapy support methods valued by parents of children with sensory integration difficulties

South African Journal of Occupational Therapy
Introduction: There are various stressors associated with parenting a child with sensory integration difficulties and although family-centered practice is essential in paediatric occupational therapy, there is limited research focused on the needs of ...
Stefanie Pyne-James, Marica Botha
doaj   +1 more source

Occupational Therapist-Led Mindfulness Training Program for Older Adults Living with Early Cognitive Decline in Primary Care: A Pilot Randomized Controlled Trial. [PDF]

J Alzheimers Dis Rep, 2023
Tran T, Finlayson M, Nalder E, Trothen T, Donnelly C.   +4 more
europepmc   +1 more source