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Bone Disease Associated with Inactivating Aromatase Mutations and its Management.
Calcif Tissue Int
January 2025
Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Santa Maria Alle Scotte, Siena, Italy.
Aromatase deficiency (ORPHA:91; OMIM: 613,546) is a rare, autosomal recessive disorder due to loss of function mutations in the CYP19A1 gene, described in both genders with an estimated incidence below 1/1000000. While in female the clinical manifestations generally occur at birth or in early infancy, and mainly involve sexual characteristics, in men clinical signs of aromatase deficiency mostly occur in puberty and especially in late puberty, so that diagnosis is generally established after the second decade due to tall stature, unfused epiphyses and reduced bone mass. Here we review the available information concerning the skeletal and extraskeletal phenotype and the clinical management of bone health in patients with aromatase CYP19A1 gene mutations.
View Article and Find Full Text PDFLow Bone Turnover, Mineralization Impairment, and Cortical Alterations in Patients with Axial Spondyloarthritis: A Histomorphometric Study.
Calcif Tissue Int
January 2025
Internal Medicine Division, Federal University of Parana (UFPR), Curitiba, PR, Brazil.
Patients with radiographic axial spondyloarthritis (r-axSpA) experience a higher prevalence of fragility fractures, though the pathophysiology of osteoporosis associated with this disease remains poorly understood. The objective of this study was to evaluate the histomorphometric data in r-axSpA patients. Male r-axSpA patients up to 55 years old were enrolled in this cross-sectional study.
View Article and Find Full Text PDFFractal analysis of jawbone structure in patients with rheumatoid arthritis.
Imaging Sci Dent
December 2024
Department of Biostatistics and Medical Informatics, Faculty of Medicine, Suleyman Demirel University, Isparta, Turkey.
Purpose: Periarticular and generalized osteoporosis are well-known comorbidities of rheumatoid arthritis (RA), associated with either the disease itself or glucocorticoid therapy. This study was performed to quantitatively evaluate changes in the jawbones of patients with RA using fractal analysis (FA).
Materials And Methods: The study comprised 186 participants, including 144 women and 42 men.
Increased hip fracture risk in the patients with type 2 diabetes mellitus is correlated with urine albumin-to-creatinine ratio (ACR) and diabetes duration in men.
Exp Biol Med (Maywood)
December 2024
Department of Endocrinology, Shanghai Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.
Patients with type 2 diabetes mellitus (T2DM) have increased hip fracture risk. And the association between urine albumin to creatinine ratio (ACR) and an increased risk of hip fracture in patients with T2DM remains controversial. This study aimed to investigate the association between urinary ACR and hip fracture risk in postmenopausal women and aged men with T2DM.
View Article and Find Full Text PDFHounsfield unit to serum pentosidine ratio predicts screw loosening after lumbar interbody fusion.
BMC Musculoskelet Disord
December 2024
Department of Orthopaedic Surgery, The Jikei University School of Medicine, 3-19-18 Nishi-shimbashi, Minato-ku, Tokyo, 105-8471, Japan.
Purpose: This study aimed to identify whether the ratio of the vertebral Hounsfield unit to serum pentosidine (H/P ratio), which reflects bone density and quality, can predict screw loosening after spinal fusion surgery.
Methods: A retrospective case-control study was conducted in 35 patients (mean age 71 ± 10.4 years, 18 men) who underwent spinal interbody fusion for lumbar spine disease between June 2020 and February 2022.
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