Resolution of PTHrP-Mediated Hypercalcemia Following Treatment with Dual BRAF/MEK Inhibition for BRAFV600E-Positive Metastatic Ameloblastoma
We describe a case of a 55-year-old female with PTHrP-mediated hypercalcemia secondary to BRAF V600E-positive ameloblastoma with pulmonary metastases. Following treatment with dabrafenib and trametinib, the patient experienced the regression of pulmonary lesions and normalization of serum calcium, PTHrP, and markers of bone turnover. Tissue samples of ameloblastoma carrying BRAF V600E mutation are more likely to express PTHrP than tissue samples carrying wild-type BRAF. In our case, resolution of PTHrP-mediated hypercalcemia following initiation of BRAF/MEK inhibition provides additional evidence that the MAPK pathway cont...
Source: Calcified Tissue International - January 22, 2024 Category: Orthopaedics Source Type: research
Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature
AbstractOsteogenesis imperfecta (OI) is a rare genetic disorder caused by abnormal collagen type I production. While OI is primarily characterized by bone fragility and deformities, patients also have extraskeletal manifestations, including an increased risk of cardiovascular disease. This review provides a comprehensive overview of the literature on cardiovascular diseases in OI patients in order to raise awareness of this understudied clinical aspect of OI and support clinical guidelines. In accordance with the PRISMA guidelines, a systematic literature search in PubMed, Embase, Web of Science and Scopus was conducted th...
Source: Calcified Tissue International - January 19, 2024 Category: Orthopaedics Source Type: research
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients
AbstractX-linked hypophosphatemia (XLH) is the most common monogenetic cause of chronic hypophosphatemia, characterized by rickets and osteomalacia. Disease manifestations and treatment of XLH patients in the Netherlands are currently unknown. Characteristics of XLH patients participating in the Dutch observational registry for genetic hypophosphatemia and acquired renal phosphate wasting were analyzed. Eighty XLH patients, including 29 children, were included. Genetic testing, performed in 78.8% of patients, showed aPHEX mutation in 96.8%. Median (range) Z-score for height was − 2.5 (− 5.5; 1.0) in adults and − 1...
Source: Calcified Tissue International - January 16, 2024 Category: Orthopaedics Source Type: research
Successful Burosumab Treatment in an Adult Patient with X-Linked Hypophosphatemia and Chronic Kidney Disease Stage 3b
We report for the first time the efficacy and good short-te rm tolerance of burosumab in a patient with XLH and CKD, subject to a higher dosage aimed at achieving a phosphatemia at the lower limit of the normal range. (Source: Calcified Tissue International)
Source: Calcified Tissue International - January 9, 2024 Category: Orthopaedics Source Type: research
Sarcopenia: An Emerging Syndrome of Advancing Age
(Source: Calcified Tissue International)
Source: Calcified Tissue International - January 8, 2024 Category: Orthopaedics Source Type: research
The ISarcoPRM Algorithm: A Thoroughfare for the ‘Geriatric Pandemic’
(Source: Calcified Tissue International)
Source: Calcified Tissue International - December 23, 2023 Category: Orthopaedics Source Type: research
Radiofrequency Echographic Multispectrometry (REMS) can Overcome the Effects of Structural Internal Artifacts and Evaluate Bone Fragility Accurately
ConclusionThis study suggests that REMS may offer a more accurate measurement of BMD, overcoming the overestimation of BMD by DXA owing to factors such as vertebral deformities, abdominal aortic calcification, and diabetes mellitus. (Source: Calcified Tissue International)
Source: Calcified Tissue International - December 21, 2023 Category: Orthopaedics Source Type: research
The Role of Osteogenic Effect and Vascular Function in Bone Health in Hypertensive Rats: A Study of Anti-hypertensive and Hemorheologic Drugs
This study demonstrates the importance of vascular function in addition to increased bone mass for improving bone health as achieved by PTX without affecting BP, and suggests a promising treatment option for osteoporosis in hypertensive patients, particularly at-risk postmenopausal women. (Source: Calcified Tissue International)
Source: Calcified Tissue International - December 15, 2023 Category: Orthopaedics Source Type: research
