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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 PDFForty years of seasonal affective disorder.
Psychiatr Pol
October 2024
Uniwersytet Medyczny w Poznaniu.
In 2024, we observe the fortieth anniversary of the publication, where, for the first time, the term of Seasonal Affective Disorder (SAD) was used. Presently, SAD is regarded as a special category of mood disorder. In the American Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-V), the seasonality makes a specifier, "with seasonal pattern", both for recurrent depression or Major Depressive Disorder (MDD), and for Bipolar Disorder (BD).
View Article and Find Full Text PDFThe first reported case of candidemia caused by the novel Candida tropicalis diploid sequence type 1515.
J Infect Dev Ctries
December 2024
Department of Emergency Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
Introduction: Since the dawn of the new millennium, Candida species have been increasingly implicated as a cause of both healthcare-associated as well as opportunistic yeast infections, due to the widespread use of indwelling medical devices, total parenteral nutrition, systemic corticosteroids, cytotoxic chemotherapy, and broad-spectrum antibiotics. Candida tropicalis is a pathogenic Candida species associated with considerable morbidity, mortality, and drug resistance issues on a global scale.
Methodology: We report a case of a 43-year-old man who was admitted to our hospital for further management of severe coronavirus disease 2019 (COVID-19) pneumonia.
Neonatal Familiar Cleidocranial Dysplasia: A Case Report.
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
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.
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