Results 51 to 60 of about 558,623 (254)
Bridging the gap: reflections on co-creation in knowledge translation
Research Involvement and EngagementBackground To address the research-practice gap, knowledge translation is a crucial step in which co-creation, including patient and public involvement (PPI), is key.
Marjolijn Ketelaar +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice +10 more
wiley +1 more source
Nuclear and Molecular Imaging in Cerebral Palsy
, 2017 Nuclear or molecular imaging (N/MI) is a functional imaging method, which utilizes radiopharmaceuticals (RPHs) to prepare the patient and special detectors to map and measure the distribution of the administered RPHs inside the body.
Hickeson, Marc +3 more
core +1 more source
Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert +4 more
wiley +1 more source
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 +13 more
wiley +1 more source
NeuroImage: Clinical, 2014 Background: Cerebral palsy (CP) is a term to describe the spectrum of disorders of impaired motor and sensory function caused by a brain lesion occurring early during development.
Kerstin Pannek +4 more
doaj +1 more source
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 +20 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Most adults with neurological disability rely on general practitioners for managing and preventing health complications. This study analysed patterns of general practice service utilisation among National Disability Insurance Scheme (NDIS) participants with neurological disability and compared these with people who are not NDIS participants ...
Stacey Oliver +8 more
wiley +1 more source
Cerebral palsy in Moldova: subtypes, severity and associated impairments
BMC Pediatrics, 2018 Background Moldova is ranked as one of the countries in Europe with the lowest income per capita and with a relatively high infant and maternal mortality rate.
Ecaterina Gincota Bufteac +3 more
doaj +1 more source