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A phase II double-blind multicentre, placebo-controlled trial to assess the efficacy and safety of alpelisib (BYL719) in paediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM study protocol.
BMJ Open
December 2024
INSERM UMR1231 Génétique des Anomalies du Développement (GAD), Université de Bourgogne, Dijon, France.
Introduction: The megalencephaly capillary malformation polymicrogyria (MCAP syndrome) results from mosaic gain-of-function variants. The main clinical features are macrocephaly, somatic overgrowth, neurodevelopmental delay and brain anomalies. Alpelisib (Vijoice) is a recently FDA-approved PI3Kα-specific inhibitor for patients with PIK3CA-related overgrowth spectrum (PROS).
View Article and Find Full Text PDFEvaluation of the effects of asymmetric lumbosacral transitional vertebra on pelvic morphology in dogs using ventrodorsal radiographs.
Acta Vet Scand
January 2025
Department of Companion Animal Clinical Sciences, Faculty of Veterinary Medicine, Norwegian University of Life Sciences, Oluf Thesens Vei 30, Ås, Norway.
Background: A lumbosacral transitional vertebra (LTV) is a congenital anomaly of the caudal vertebral column. It has been associated with asymmetrical canine hip dysplasia (CHD) and cauda equina syndrome (CES) in German Shepherd dogs. This retrospective cross-sectional study aims to report the potential influence of asymmetric LTV on pelvic anatomy using ventrodorsal (VD) radiographs.
View Article and Find Full Text PDFKyphectomy followed by self-sliding pedicle screw and translumbosacral rod impaction and fixation: a novel growth-friendly technique in myelomeningocele patients.
Spine Deform
January 2025
Pediatrics and Neurosurgery, Cedars Sinai Medical Center, Los Angeles, CA, USA.
Introduction: Congenital lumbar kyphosis is present in about 15% of patients with myelomeningocele. Worsening of deformity with complications such as chronic skin ulcers and bone exposure is common. In patients under 8 years of age, treatment becomes even more challenging: in addition to resecting the apex of the kyphotic deformity, we should ideally stabilize the spine with fixation methods that do not interrupt the growth of the rib cage, associated with the challenging pelvic fixation in this population.
View Article and Find Full Text PDFCase Report: Prenatal ultrasound presentation of congenital melanocytic nevus syndrome.
Front Pediatr
December 2024
Department of Ultrasound, Jinan Maternity and Child Care Hospital, Jinan, Shandong, China.
Congenital melanocytic nevus (CMN) syndrome is a rare, non-familial neural ectodermal dysplasia characterized by CMN combined with extracutaneous abnormalities, predominantly involving the central nervous system (CNS). The pathogenesis of CMN syndrome is thought to result from early post-zygotic somatic mutations. CNS melanosis frequently affects the anterior temporal lobes, brainstem, cerebellum, and cerebral cortex.
View Article and Find Full Text PDFFull-Endoscopic J-Shaped Transforaminal L5 Nerve Decompression in Bertolotti Syndrome.
Neurospine
December 2024
Department of Neurosurgery, Chosun University Hospital, Gwangju, Korea.
This case report and video demonstrate the technique of full-endoscopic J-shaped transforaminal L5 exiting nerve decompression in Bertolotti syndrome. Bertolotti syndrome, characterized by a congenital lumbosacral transitional vertebra, often results in mechanical lower back pain and nerve root compression. A 69-year-old male presented with progressive radiating pain in the right leg and tingling in the L5 dermatome.
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