Browsing by Author "Collins, Michael T."
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- Item18F‐NaF PET/CT IMAGING IN FIBROUS DYSPLASIA OF BONE(2019) Papadakis, Georgios Z.; Manikis, G. C.; Karantanas, Apostolos H.; Florenzano Valdés, Pablo Felipe; Bagci, U.; Marías, K.; Collins, Michael T.; Boyce, Alison M.
- ItemAge-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone(2019) Florenzano Valdés, Pablo Felipe; Pan, Kristen S.; Brown, Sydney M.; Paul, Scott M.; Kushner, Harvey; Guthrie, Lori C.; Fernández de Castro, Luis; Collins, Michael T.; Boyce, Alison M.
- ItemAnticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives(2023) Seefried, Lothar; Duplan, Martin Biosse; Briot, Karine; Collins, Michael T.; Evans, Rachel; Florenzano, Pablo; Hawkins, Neil; Javaid, Muhammad Kassim; Lachmann, Robin; Ward, Leanne M.X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disease with multisystem impact that typically begins to manifest in early childhood. Two treatment options exist: oral phosphate in combination with active vitamin D ("conventional therapy") and a fully human monoclonal anti-FGF23 antibody, burosumab. The clinical benefit of conventional therapy in adults is limited, and poor tolerance and complications are common. Burosumab was first approved as a treatment for XLH in 2018 and its disease-modifying benefits in clinical trials in children suggest burosumab treatment could also alter the disease course in adults. Without long-term clinical data on multiple XLH-related sequelae available, the results of an elicitation exercise are reported, in which eight global experts in XLH posited how long-term treatment with burosumab is anticipated to impact the life course of clinical sequelae in adults with XLH. Based on their clinical experiences, the available evidence and their disease understanding, the experts agreed that some long-term benefits of using burosumab are likely in adults with XLH even if they have a misaligned skeleton from childhood. Burosumab treatment is anticipated to reduce the incidence of fractures and halt the progression of clinical sequelae associated with conventional therapy. While the trajectories for established dental abscesses are not expected to improve with burosumab treatment, dental abscess development may be prevented. Starting treatment with burosumab in childhood to increase the likelihood of an aligned skeleton and continuation into and throughout adulthood to maintain euphosphatemia may optimize patient outcomes, although future real-world investigation is required to support this hypothesis.
- ItemCharacterization of Oral Health Status in Chilean Patients with X-Linked Hypophosphatemia(2021) Marin, Alejandro; Morales, Pilar; Jimenez, Macarena; Borja, Eugenia; Ivanovic-Zuvic, Danisa; Collins, Michael T.; Florenzano, PabloX-Linked Hypophosphatemia (XLH) is the most common cause of inherited hypophosphatemic rickets. Dental involvement, including spontaneous abscesses and/or fistulae, is an important part of the disease and has not been completely defined, especially in cohorts from developing countries. To describe oral health status in a cohort of Chilean patients with XLH and explore its correlation with biochemical presentation and treatment, we conducted a cross-sectional observational study of patients with PHEX mutation-confirmed XLH. All patients had an oral clinical exam, radiographic evaluation; clinical and biochemical data were obtained to determine their association with oral features. Twenty-six patients were included, 77% adults and 23% children. Most adults (89%) had past or current dental pulp pathology (abscesses and/or fistulae). Pulpal chamber enlargement and radiolucent apical lesions were common radiological features (94 and 74%, respectively). In children, abscess and/or fistulae were also common (33%). Caries index, which was determined by dmft/DMFT, was higher than the Chilean national average. Early and long-term therapy with phosphate and activated vitamin D was associated with lower carious index and attachment loss. XLH patients frequently present with high pulpal involvement and carious index. Conventional therapy was associated with lower carious index and attachment loss. These data highlight the importance of early and periodical dental care in order to prevent dental damage and assure a good quality of oral health for XLH patients.
- ItemDetermination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia(2022) Hartley, Iris R.; Gafni, Rachel, I; Roszko, Kelly L.; Brown, Sydney M.; de Castro, Luis F.; Saikali, Amanda; Ferreira, Carlos R.; Gahl, William A.; Pacak, Karel; Blau, Jenny E.; Boyce, Alison M.; Salusky, Isidro B.; Collins, Michael T.; Florenzano, PabloFibroblast growth factor-23 (FGF23) measurement is a critical tool in the evaluation of patients with disordered phosphate homeostasis. Available laboratory reference ranges for blood FGF23 were developed using samples from normophosphatemic individuals. Reliance on such values can lead to misdiagnosis in patients with FGF23-mediated hypophosphatemia, such as X-linked hypophosphatemia (XLH) and tumor-induced osteomalacia (TIO), in whom pathology-driving FGF23 levels can be in the "normal range." To determine FGF23 levels that are diagnostic for the identification of patients with FGF23-mediated hypophosphatemic disorders, we studied 149 patients with various disorders of FGF23-mediated and FGF23-independent hypophosphatemia and defined cut-off levels for both intact FGF23 (iFGF23) and C-terminal FGF23 (cFGF23) that can accurately distinguish between FGF23-mediated and FGF23-independent hypophosphatemia. In addition, to demonstrate the relationship between FGF23 and phosphate across the spectrum of human physiology, we assessed blood levels of FGF23 and phosphate in 434 patients with various forms of hypophosphatemia, hyperphosphatemia, and normophosphatemia. An intact FGF23 cut point of 27 pg/mL was 100% sensitive and specific in distinguishing FGF23-mediated from FGF23-independent hypophosphatemia, and a cFGF23 cut point of 90 RU/mL was 100% sensitive and specific in distinguishing specifically TIO from FGF23-independent hypophosphatemia. There was overlap in the cFGF23 range of 45-90 RU/mL between genetic forms of FGF23 excess and FGF23-independent hypophosphatemia, substantiating the superiority of iFGF23 over cFGF23 in making the diagnosis of FGF23-mediated hypophosphatemia. In this cohort, using the laboratory upper limit of normal for cFGF23 (180 RU/mL) would result in a misdiagnosis in more than half of patients with FGF23-mediated hypophosphatemia. In this, the largest study of FGF23 in chronic hypophosphatemia to date, we established iFGF23 and cFGF23 cut-off values to assist in the evaluation and diagnosis of hypophosphatemic conditions. (c) 2022 American Society for Bone and Mineral Research (ASBMR). This article has been contributed to by US Government employees and their work is in the public domain in the USA.
- ItemNephropathic Cystinosis: A Distinct Form of CKD-Mineral and Bone Disorder that Provides Novel Insights into the Regulation of FGF23(2020) Florenzano, Pablo; Jimenez, Macarena; Ferreira, Carlos R.; Nesterova, Galina; Roberts, Mary Scott; Tella, Sri Harsha; Fernandez de Castro, Luis; Gafni, Rachel I.; Wolf, Myles; Juppner, Harald; Gales, Barbara; Wesseling-Perry, Katherine; Markovich, Daniela; Gahl, William A.; Salusky, Isidro B.; Collins, Michael T.Background The rare lysosomal storage disease nephropathic cystinosis presents with renal Fanconi syndrome that evolves in time to CKD. Although biochemical abnormalities in common causes of CKD-mineral and bone disorder have been defined, it is unknown if persistent phosphate wasting in nephropathic cystinosis is associated with a biochemical mineral pattern distinct from that typically observed in CKD-mineral and bone disorder.
- ItemSkeletal Consequences of Nephropathic Cystinosis(2018) Florenzano Valdés, Pablo Felipe; Ferreira, Carlos; Nesterova, Galina; Roberts, Mary Scott; Harsha Tella, Sri; Fernández de Castro, Luis; Brown, Sydney M.; Whitaker, Adom; Pereira, Renata C.; Bulas, Dorothy; Gafni, Rachel I.; Salusky, Isidro B.; Gahl, William A.; Collins, Michael T.
- ItemTumor-induced osteomalacia(2017) Florenzano Valdés, Pablo Felipe; Gafni, Rachel I.; Collins, Michael T.