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Galloway-mowat syndrome 3 (GAMOS3): a novel disease-causing variant in OSGEP gene and expansion of the clinical spectrum.
Neurol Sci
December 2024
Department of Molecular Medicine, Faculty of Medicine and Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Birjand, Iran.
Introduction: Galloway-Mowat syndrome type 3 (GAMOS3) is a rare genetic disorder with renal and neurological complications caused by pathogenic variants in the OSGEP gene. Here, we report the molecular basis and clinical features in an Iranian family.
Methods: Our proband, a 10-month-old female patient, presented with microcephaly, global developmental delay, lower limb spasticity, facial dysmorphisms, and renal tubulopathy.
Application of Virtual Planning and 3-Dimensional Printing Guide in Surgical Management of Craniosynostosis.
World Neurosurg
December 2024
Department of Neurosurgery, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan; College of Medicine, Chang Gung University, Taoyuan, Taiwan. Electronic address:
Objective: This study aims to elaborate on the application of virtual surgical planning (VSP) and 3-dimensional printing (3DP) guides in the surgical management of craniosynostosis and compare their surgical outcomes with traditional surgical planning.
Methods: A retrospective review of patients who underwent cranial vault and cranio-orbital remodeling procedures for craniosynostosis was performed. VSP was accomplished by establishing a 3D model from Digital Imaging and Communications in Medicine format computed tomography data.
A multi-omic atlas of human embryonic skeletal development.
Nature
November 2024
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Human embryonic bone and joint formation is determined by coordinated differentiation of progenitors in the nascent skeleton. The cell states, epigenetic processes and key regulatory factors that underlie lineage commitment of these cells remain elusive. Here we applied paired transcriptional and epigenetic profiling of approximately 336,000 nucleus droplets and spatial transcriptomics to establish a multi-omic atlas of human embryonic joint and cranium development between 5 and 11 weeks after conception.
View Article and Find Full Text PDFEvaluating mechanical benefit of wedge osteotomies in endoscopic surgery for sagittal synostosis using patient-specific 3D-printed models.
Childs Nerv Syst
December 2024
Department of Neurosurgery, Second Faculty of Medicine, Charles University and Motol University Hospital, V Úvalu 84, 150 06 Prague 5, Prague, Czech Republic.
Purpose: Endoscopically assisted sagittal strip craniotomy with subsequent cranial orthosis is a frequently used surgical approach for non-syndromic sagittal synostosis. Originally, this technique involved a wide sagittal strip craniectomy with bilateral wedge osteotomies. More recent studies suggest omitting wedge osteotomies, achieving similar outcomes.
View Article and Find Full Text PDFApplication of Computerized Surgical Planning in Craniosynostosis Surgery.
Semin Plast Surg
August 2024
Division of Plastic and Reconstructive Surgery, Department of Surgery, Yale School of Medicine, New Haven, Connecticut.
Craniosynostosis, a medical condition characterized by premature fusion of one or multiple cranial sutures, has historically been treated through surgical correction. Computerized Surgical Planning (CSP) and three-dimensional (3D) modeling have gained significant popularity across craniofacial surgery. Through a collaborative effort between surgeons and engineers, it is now possible to virtually execute a surgical plan based on preoperative imaging using computed tomography scans.
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