Results 61 to 70 of about 75,659 (315)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source
Early Detection of Progressive Adolescent Idiopathic Scoliosis: A Severity Index [PDF]
, 2017 Study Design. Early detection of progressive adolescent idiopathic scoliosis (AIS) was assessed based on 3D quantification of the deformity. Objective. Based on 3D quantitative description of scoliosis curves, the aim is to assess a specific deformation ...
DREVELLE, Xavier +2 more
core +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young +6 more
wiley +1 more source
Case Reports in Orthopedics, 2015 Septic arthritis is a clinical emergency requiring prompt diagnosis and treatment to avoid significant morbidity and mortality. Polyarticular septic arthritis (PASA) accounts for 15% of all infectious arthritides and rarely occurs in immunocompetent ...
Annelise Miller +2 more
doaj +1 more source
Tubular Micro-Discectomy Under Local Epidural Anaesthesia: A Technical Note [PDF]
Journal of Minimally Invasive Spine Surgery and Technique, 2019 Objective Day-care surgery maximizes utilization of healthcare and aids in early return to work. Minimally invasive spine surgery (MISS) under local epidural anesthesia is a step in this direction.
Arvind Gopalrao Kulkarni +2 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Orthopaedic Journal of Sports Medicine, 2018 Background: Recurrent patellar instability is commonly treated with medial patellofemoral ligament reconstruction (MPFLR), and the use of allograft in anterior cruciate ligament reconstructions has demonstrated inferior outcomes.
Nikhil Kumar BS +4 more
doaj +1 more source
Limbus vertebrae of the cervical spine: A case report
Clinical Case Reports, 2022 Limbus vertebra is a common radiological finding in an adult, especially in the mid‐lumbar region. However it is less commonly seen in the mid cervical region.
Eleni Pappa, Ioannis Chatzikomninos
doaj +1 more source
, 2023 reservedThe scoliosis pathology affects nowadays up to 3% of the population, including mostly adolescents. The causes of the pathology could include genetical predisposition and comorbidities in neurological and physiological development, or could arise ...
LAMONACA, MARTA
core