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18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia.
Calcif Tissue Int
January 2025
Endocrinology Department, School of Medicine, Pontificia Universidad Católica de Chile, Av. Diagonal Paraguay 262, Cuarto Piso, Santiago, Chile.
X-linked hypophosphatemia (XLH) is a rare metabolic disorder characterized by elevated FGF23 and chronic hypophosphatemia, leading to impaired skeletal mineralization and enthesopathies that are associated with pain, stiffness, and diminished quality of life. The natural history of enthesopathies in XLH remains poorly defined, partly due to absence of a sensitive quantitative tool for assessment and monitoring. This study investigates the utility of 18F-NaF PET/CT scans in characterizing enthesopathies in XLH subjects.
View Article and Find Full Text PDFItching tends to worsen at night in patients with itchy skin diseases, such as atopic dermatitis. Unconscious scratching during sleep can exacerbate symptoms, cause sleep disturbances, or reduce quality of life. Therefore, evaluating nocturnal scratching behaviour is important for better patient care.
View Article and Find Full Text PDFNevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report.
J Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFReview of upper extremity passive joint impedance identification in people with Duchenne Muscular Dystrophy.
J Neuroeng Rehabil
January 2025
Department of BioMechanical Engineering, Delft University of Technology, Mekelweg 2, Delft, 2628 CD, South-Holland, The Netherlands.
Duchenne Muscular Dystrophy (DMD) progressively leads to loss of limb function due to muscle weakness. The incurable nature of the disease shifts the focus to improving quality of life, including assistive supports to improve arm function. Over time, the passive joint impedance (Jimp) of people with DMD increases.
View Article and Find Full Text PDFSemaglutide and laparoscopic sleeve gastrectomy in an adolescent with congenital adrenal hyperplasia due to 21-hydroxylase: a case report.
J Med Case Rep
January 2025
Department of Surgery, Center for Endocrinology, Diabetes and Metabolism, Children's Hospital Los Angeles and Keck School of Medicine of USC, Los Angeles, CA, USA.
Background: Classic congenital adrenal hyperplasia, primarily due to 21-hydroxylase deficiency, leads to impaired cortisol and aldosterone production and excess adrenal androgens. Lifelong glucocorticoid therapy is required, often necessitating supraphysiological doses in youth to manage androgen excess and growth acceleration. These patients experience higher obesity rates, hypertension, and glucose metabolism issues, complicating long-term health management.
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