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Pol J Radiol
November 2024
Department of Radiology, Istanbul Medeniyet University, Istanbul, Turkey.
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 PDFJ Craniofac Surg
December 2024
Alder Hey Children's Hospital, Eaton Road, Liverpool, UK.
Introduction: Posterior vault distraction osteogenesis (PVDO) allows significant increase in intracranial volume but is associated with complications including cerebrospinal fluid (CSF) leaks, infection and device failure. The authors outline their outcomes over 12 years and the impact of PVDO on pre-existing Chiari malformation type 1 (CM).
Method: Retrospective review of all PVDOs in our unit over a period of 12 years from 2011 to 2023.
J Neurosurg Case Lessons
December 2024
Department of Neurosurgery, The Jikei University School of Medicine, Tokyo, Japan.
Background: Postoperative subdural hematoma (SDH) typically presents with headache, impaired consciousness, hemiplegia, gait disturbance, and aphasia but can also present with visual impairment.
Observations: A 52-year-old woman diagnosed with Chiari malformation type I and syringomyelia underwent foramen magnum decompression. Cerebrospinal fluid was lost due to arachnoid injury during the procedure.
Pak J Med Sci
December 2024
Dr Mahwish Shoaib, FCPS Radiology. Assistant Professor, Department of Diagnostic Radiology, Punjab Institute of Neurosciences, Lahore, Pakistan.
Background And Objective: Chiari I Malformation-associated syringomyelia (CM) and idiopathic syringomyelia (IS) are often confused together. They require different diagnostic approach and treatment modalities; it is important to distinguish between the two. We aimed to evaluate the radiological and morphologic characteristics of CM and IS in adult and pediatric patients in Pakistani population.
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