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The Impact of Intraoperative CT-Based Navigation in Congenital Craniovertebral Junction Anomalies: New Concepts of Treatment.
Brain Sci
December 2024
Department of Neurosurgery, IRCSS Humanitas Research Hospital, Via Alessandro Manzoni 56, 20089 Rozzano, Milan, Italy.
Background: Congenital craniovertebral junction anomalies (CCVJAs) encompass a diverse range of conditions characterized by distorted anatomy and significant variation in the pathways of neurovascular structures. This study aims to assess the safety and feasibility of tailoring posterior fixation for CCVJAs through intraoperative CT-based navigation.
Methods: An in-depth retrospective analysis was conducted on eight patients diagnosed with CCVJAs (excluding Arnold-Chiari malformation).
Cranial, Renal, and Skeletal Anomalies in a Fetus With a Pathogenic Variant in the TAFAZZIN Gene.
Prenat Diagn
January 2025
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.
Objective: To report a case of a fetus with multiple congenital anomalies and suspected Barth syndrome, highlighting potential phenotypic expansion of the syndrome.
Methods: A 32-year-old G4P2011 patient was referred at 18w5d gestation for suspected fetal encephalocele. Serial imaging, including ultrasound and MRI, was performed to evaluate fetal anomalies.
Characterizing the In Utero Phenome of the Chiari II Malformation-A Network Medicine Approach, Using Fetal MRI.
Prenat Diagn
January 2025
Department of Biomedical Imaging and Image-Guided Therapy, Medical University of Vienna, Vienna, Austria.
Objective: To apply a network medicine-based approach to analyze the phenome of the prenatal fetal MRI and biometric findings in the Chiari II malformation (CM II) to detect specific patterns and co-occurrences.
Method: A single-center retrospective review of fetal MRI scans obtained in fetuses with CM II was performed. Co-occurrence analysis was utilized to generate a phenotypic comorbidity matrix and visualized by Gephi software.
Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.
Calcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFSports after single-suture synostosis surgery: a survey of Synostosis Research Group members.
Neurosurg Focus
January 2025
18Department of Neurosurgery, Washington University School of Medicine, St. Louis, Missouri.
Objective: Patients with a history of surgery for single-suture craniosynostosis (SSC) as an infant often wish to participate in sports later in childhood. However, there are no established guidelines from neurosurgeons and craniofacial surgeons to guide parents in which sports their child should or should not participate. Therefore, this study aimed to evaluate the attitudes and practice patterns of experienced neurosurgeons and craniofacial surgeons regarding the counseling of caregivers of these patients about sports participation.
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