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Kyphectomy 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 PDFA novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report.
J Med Case Rep
January 2025
Department of Orthopaedics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Background: Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation.
View Article and Find Full Text PDFRabin8 phosphorylated by NDR2/STK38L, the canine early retinal degeneration (erd) gene product, directs rhodopsin Golgi-to-cilia trafficking.
J Cell Sci
January 2025
Department of Ophthalmology and Visual Sciences, University of New Mexico, Albuquerque, New Mexico 87131, Mexico.
The Rab11-Rabin8-Rab8 ciliogenesis complex regulates the expansion of cilia-derived light-sensing organelles, the rod outer segments, via post-Golgi rhodopsin transport carriers (RTCs). Rabin8, an effector of Rab11 and a nucleotide exchange factor (GEF) for Rab8, is phosphorylated at S272 by NDR2 kinase (aka STK38L), a canine erd gene product linked to the human ciliopathy Leber congenital amaurosis (LCA). Here, we define the step at which NDR2 phosphorylated Rabin8 regulates Rab11-Rab8 succession in X.
View Article and Find Full Text PDFAssessment of the Peripheral and Central Auditory System in Infants Whose Mothers Tested Positive for COVID-19 During Pregnancy.
Children (Basel)
December 2024
School of Medical Sciences, State University of Campinas, Campinas 13083-887, Brazil.
Introduction: Coronavirus disease 2019 (COVID-19) is an infectious disease caused by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), a new member of the coronavirus family. While respiratory transmission is the main route, concerns have arisen regarding possible vertical transmission, which refers to the transmission of the virus from mother to fetus through the dissemination of viral particles in the amniotic fluid. Fetal viral infection via the placenta can affect the formation of the auditory system and lead to congenital hearing disorders.
View Article and Find Full Text PDFDorsal Intradural Extramedullary Bronchogenic Cysts: A Case Report and Comprehensive Literature Review.
Cureus
December 2024
Neurological Surgery, High Specialty Regional Hospital Bajio, León, MEX.
Intradural extramedullary bronchogenic cysts (IEBCs) are exceedingly rare congenital entities, composed of respiratory epithelial cells derived from the anomalous development of the embryonic foregut. Due to their exceptionally low morbidity, only limited cases are available. Consequently, the clinical features and optimal therapeutic approach remain poorly understood.
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