Results 31 to 40 of about 161,249 (232)

Avoidable injuries in pediatric hand fractures: a 30-year review of compensation claims in Finland

Acta Orthopaedica
Background and purpose: We aimed to evaluate the risk, causes, and compensation outcomes of avoidable injuries in pediatric hand fractures. Methods: All compensation claims submitted to the Finnish Patient Insurance Centre (PIC) for pediatric hand ...
Caroline C  Dikert, Petra Grahn, Yrjänä Nietosvaara   +2 more
doaj   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

An Acta Orthopaedica educational article: Treatment of pediatric spondylolysis and spondylolisthesis

Acta Orthopaedica
Spondylolysis is defined as a defect or elongation in the pars interarticularis of the lumbar spine, either unilateral or bilateral. Growing children with bilateral spondylolysis may develop spondylolisthesis, i.e., forward slipping of the affected ...
Ilkka Helenius, Ella Virkki, Taavi Toomela, Daniel Studer, Martin Gehrchen, Matti Ahonen   +5 more
doaj   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Effectiveness of nighttime vs full-time bracing in the treatment of moderate-grade adolescent idiopathic scoliosis: a secondary analysis of the CONTRAIS trial

Acta Orthopaedica
Background and purpose: Data on effectiveness of nighttime bracing compared with full-time bracing in adolescent idiopathic scoliosis is scarce. We aimed to investigate risk of curve progression and surgery with nighttime bracing vs full-time bracing ...
Anastasios Charalampidis, Elias Diarbakerli, Kourosh Jalalpour, Acke Ohlin, Anna Aspberg Ahl, Hans Möller, Allan Abbott, Paul Gerdhem   +7 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +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

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

Correlation between acetabular index at 3 and 12 months of age: a longitudinal radiographic study of 228 neonates treated for 6 or 12 weeks with the von Rosen splint for developmental dysplasia of the hip

Acta Orthopaedica
Background and purpose: Developmental dysplasia of the hip (DDH) affects around 1.5% of newborns in Sweden with few late detected cases (0.12 per 10,000).
Adam Sand, Daniel Wenger, Henrik Düppe, Carl Johan Tiderius   +3 more
doaj   +1 more source

Long-term clinical and radiological outcomes following surgical treatment for symptomatic pediatric flexible flat feet: a systematic review

Acta Orthopaedica, 2022
Background and purpose: Albeit pediatric flexible flat foot (FFF) is a common condition, only a minority of patients become symptomatic. Long-term outcomes of surgically treated pediatric patients with symptomatic FFF are largely unknown.
Maria Anna Smolle, Martin Svehlik, Katharina Regvar, Andreas Leithner, Tanja Kraus   +4 more
doaj   +1 more source