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The Delicate Balancing of Pros and Cons in the Surgical Management of Hyperparathyroidism in a Young Female with Germline Variant in the CDC73 Gene.
Calcif Tissue Int
January 2025
Department of Endocrinology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium.
Hyperparathyroidism-jaw tumor syndrome is a rare form of syndromic primary hyperparathyroidism. We describe a young female with a history of common precursor B acute lymphoblastic leukaemia who was diagnosed with overt primary hyperparathyroidism due to a pathogenic CDC73 variant (c.25C > T).
View Article and Find Full Text PDFBase 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 PDFConservative management of pediatric pineal cyst apoplexy: a case report and literature review.
Childs Nerv Syst
January 2025
Department of Neurosurgery, Faculty of Medicine, Biruni University, Istanbul, Turkey.
A 5-month-old male patient presented with obstructive hydrocephalus caused by pineal cyst apoplexy. Ventriculoperitoneal shunt surgery was performed for hydrocephalus treatment. During follow-up, spontaneous shrinkage of the cyst was observed.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
Washington University School of Medicine, Saint Louis, MO, USA.
Background: A recent case report described an individual who was a homozygous carrier of the APOE3 Christchurch (APOE3ch) mutation and resistant to autosomal dominant Alzheimer's Disease (AD) caused by a PSEN1-E280A mutation. Whether APOE3ch contributed to the protective effect remains unclear.
Method: We generated a humanized APOE3ch knock-in mouse and crossed it to an amyloid-β (Aβ) plaque-depositing model.
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