{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:24:36Z","timestamp":1787009076835,"version":"build-2736575974"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"9","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000016","name":"Department of Health and Human Services","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000016","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NIH Medical Research Scholars Program"},{"DOI":"10.13039\/100005345","name":"American Association for Dental Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005345","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004368","name":"Colgate-Palmolive Company","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004368","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare disorder caused by deficient FGF23 signaling and resultant ectopic calcification. Here, we systematically characterized and quantified macro- and micro-calcification in a HFTC cohort using CT and 18F-sodium fluoride PET\/CT (18F-NaF PET\/CT). Fourier-transform infrared (FTIR) spectroscopy was performed on 4 phenotypically different calcifications from a patient with HFTC, showing the dominant component to be hydroxyapatite. Eleven patients with HFTC were studied with CT and\/or 18F-NaF PET\/CT. Qualitative review was done to describe the spectrum of imaging findings on both modalities. CT-based measures of volume (eg, total calcific burden and lesion volume) and density (Hounsfield units) were quantified and compared to PET-based measures of mineralization activity (eg, mean standardized uptake values\u2014SUVs). Microcalcification scores were calculated for the vasculature of 6 patients using 18F-NaF PET\/CT and visualized on a standardized vascular atlas. Ectopic calcifications were present in 82% of patients, predominantly near joints and the distal extremities. Considerable heterogeneity was observed in total calcific burden per patient (823.0\u2009\u00b1\u2009670.1\u00a0cm3, n\u2009=\u20099) and lesion volume (282.5\u2009\u00b1\u2009414.8\u00a0cm3, n\u2009=\u200927). The largest lesions were found at the hips and shoulders. 18F-NaF PET offered the ability to differentiate active vs quiescent calcifications. Calcifications were also noted in multiple anatomic locations, including brain parenchyma (50%). Vascular calcification was seen in the abdominal aorta, carotid, and coronaries in 50%, 73%, and 50%, respectively. 18F-NaF-avid, but CT-negative calcification was seen in a 17-year-old patient, implicating early onset vascular calcification. This first systematic assessment of calcifications in a cohort of patients with HFTC has identified the early onset, prevalence, and extent of calcification. It supports 18F-NaF PET\/CT as a clinical tool for distinguishing between active and inactive calcification, informing disease progression, and quantification of ectopic and vascular disease burden.<\/jats:p>","DOI":"10.1093\/jbmr\/zjae115","type":"journal-article","created":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T22:04:47Z","timestamp":1721858687000},"page":"1327-1339","source":"Crossref","is-referenced-by-count":4,"title":["Structural and molecular imaging-based characterization of soft tissue and vascular calcification in hyperphosphatemic familial tumoral calcinosis"],"prefix":"10.1093","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-6958-7834","authenticated-orcid":false,"given":"Aaron J","family":"Sheppard","sequence":"first","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, NIH , Bethesda, MD 20892, United States"},{"name":"School of Medicine, Louisiana State University Health Shreveport , Shreveport, LA 71103, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sriram S","family":"Paravastu","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, NIH , Bethesda, MD 20892, United States"},{"name":"University of Missouri \u2013 Kansas City School of Medicine , Kansas City, MO 64108, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faraz","family":"Farhadi","sequence":"additional","affiliation":[{"name":"Department of Radiology and Imaging Sciences, Clinical Center, NIH , Bethesda, MD 20892, United States"},{"name":"Geisel School of Medicine, Dartmouth , Hanover, NH 03755, United States"},{"name":"Institute of Nuclear Medicine , Bethesda, MD 20892, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8165-9568","authenticated-orcid":false,"given":"Eve","family":"Donnelly","sequence":"additional","affiliation":[{"name":"Department of Materials Science and Engineering, Cornell University , Ithaca, NY 14853, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris R","family":"Hartley","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, NIH , Bethesda, MD 20892, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7970-3491","authenticated-orcid":false,"given":"Rachel I","family":"Gafni","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, NIH , Bethesda, MD 20892, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Babak","family":"Saboury","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, NIH , Bethesda, MD 20892, United States"},{"name":"Institute of Nuclear Medicine , Bethesda, MD 20892, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael T","family":"Collins","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, NIH , Bethesda, MD 20892, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0284-5299","authenticated-orcid":false,"given":"Kelly L","family":"Roszko","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, NIH , Bethesda, MD 20892, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,7,24]]},"reference":[{"key":"2024090404575621000_ref1","volume-title":"GeneReviews\u00ae","author":"Ramnitz","year":"1993"},{"issue":"6","key":"2024090404575621000_ref2","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1038\/ng1358","article-title":"Mutations in GALNT3, encoding a protein involved in O-linked 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