Results 131 to 140 of about 248,429 (314)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Occupational Choice of Return Migrants in Moldova [PDF]

This paper analyses the occupational choice of return migrants. Using the CBSAXA data on different aspects of migration in Moldova, we find that those who stayed illegally in the host country tend to go in wage employment on return to the home country ...
Borodak, Daniela, Piracha, Matloob
core  

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Unpacking the middle-class worldview in occupational science using cultural-historical activity theory

Background: Occupational science continues to study occupation from a Westernised, Eurocentric, and middle-class perspective despite efforts to incorporate Global South perspectives.
Pineda, Roi Charles, Sy, Michael, Farias, Lisette, Godoy-Vieira, Aline   +3 more
core   +1 more source

Enabling International Communication among Brazilian Occupational Therapists: Seeking Consensus on Occupational Terminology

, 2010
The purpose of this study was to examine how key occupational therapy terminologies are used by Brazilian occupational therapists. A nominal group approach combined with a Delphi technique involving 31 Brazilian occupational therapists was applied.
MAGALHAES, Lilian, GALHEIGO, Sandra Maria   +1 more
core   +1 more source

Movement behaviour and active play space standards: a review of early childhood education frameworks in the United Kingdom

International Journal of Child Care and Education Policy
Background Early childhood education (ECE) settings help shape young children's health behaviours. While the importance of healthy movement behaviours (i.e., physical activity, sedentary behaviour, sleep) on early childhood development is well understood,
Sophie M. Phillips, Dan Jones, Kristy Howells, Farid Bardid, John J. Reilly, Patricia Tucker   +5 more
doaj   +1 more source

Patterns of Psychosocial Work Environments and Their Association With Exercise Frequency and Self-Rated Health in 32,938 Swedish Employees: A Latent Profile Analysis

Baltic Journal of Sport and Health Sciences
Purpose: Poor psychosocial work environments have been associated with adverse lifestyle factors, with a possible variation in the association for different patterns of work environments.
Linnea Eriksson, Daniel Väisänen, Magnus Lindwall, Therese Hellman, Victoria Blom, Elin Ekblom Bak   +5 more
doaj   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

A non-paternalistic value theory of occupational therapy: a comment to Dige

, 2011
In an article by Morten Dige in the Scandinavian Journal of Occupational Therapy, a value theory for occupational therapy is developed where the goals of occupational therapy, i.e. activity and participation, are seen as valuable in themselves.
Lars Sandman, Sandman, Lars,
core   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source