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Objective: The aim of this study was to evaluate and validate the accuracy and performance characteristics of administrative codes in diagnosing autoinflammatory syndromes (AISs).
Methods: We identified potential AIS patients from the electronic medical records at the University of Iowa Hospital and Clinics and the Stead Family Children's Hospital using a screening filter based on the 10th edition of the International Classification of Diseases (ICD-10) codes and interleukin-1 antagonists. Diagnostic criteria for adult-onset Still disease, systemic juvenile idiopathic arthritis, Behçet disease (BD), familial Mediterranean fever (FMF), cryopyrin-associated periodic syndrome (CAPS), and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome and chronic nonbacterial osteomyelitis (SAPHO-CNO) were reviewed for each patient.
Hyperphosphatemic Familial Tumoral Calcinosis.
South Med J
December 2024
Department of Dermatology, Mayo Clinic, Jacksonville, Florida.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive condition characterized by fibroblast growth factor 23 signaling pathway dysregulation, hyperphosphatemia and ectopic calcifications (which manifest as joint motion limitations), inflammatory bony pain, and disability. Given the rarity and multiorgan involvement of HFTC, a multidisciplinary approach including Dermatology, Ophthalmology, Dentistry, Nephrology, Endocrinology, Rheumatology, and Genetics is necessary for diagnosis and treatment. We present a multidisciplinary diagnostic and treatment approach for a patient with HFTC due to a gene mutation with unique imaging highlighting the extent of calcinosis seen in HFTC.
View Article and Find Full Text PDFPhenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the Gene.
Genes (Basel)
October 2024
Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia 74605-050, GO, Brazil.
Camurati-Engelmann Disease (CED), or Progressive Diaphyseal Dysplasia, is a rare autosomal dominant disorder caused by heterozygous mutations in the Gene, essential for bone regeneration. This study examines the genotype-phenotype relationship in a family diagnosed with CED, specifically focusing on a missense variant (c.653G>A, p.
View Article and Find Full Text PDFCaffey disease in an infant.
BMJ Case Rep
November 2024
Paediatrics, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India.
A previously healthy female infant was brought to the paediatrics outpatient department by her mother reporting increased irritability and swelling behind her left shoulder, accompanied by restricted movement in her left arm. The irritability had been present for the past 5 months, with swelling also noticed at that time, gradually increasing in size. On examination, a large, firm, immobile mass was detected on the left scapular region.
View Article and Find Full Text PDFHyperostosis in Fishes: An Update With New Species Records.
J Morphol
November 2024
Department of Evolutionary Biology, University of Vienna, Vienna, Austria.
Literature reports of hyperostosis are often misleading and have been confused with osteomas, a pathological condition. Hyperostotic bones are known to occur only in bony fishes of the class Actinopterygii, within at least 16 orders, 35 families, 89 genera, and 153 species. They are present almost exclusively in marine fishes and exceptionally in a few extinct freshwater species known from hypersaline environments and one extant cichlid.
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