{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T16:21:10Z","timestamp":1778775670026,"version":"3.51.4"},"reference-count":50,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T00:00:00Z","timestamp":1493251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T00:00:00Z","timestamp":1493251200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"name":"k23","award":["NIH K23DK102659"],"award-info":[{"award-number":["NIH K23DK102659"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Primary mitochondrial disease is caused by either mitochondrial or nuclear DNA mutations that impact the function of the mitochondrial respiratory chain. Individuals with mitochondrial disorders have comorbid conditions that may increase their risk for poor bone health. The objective of this retrospective electronic medical record (EMR) review was to examine risk factors for poor bone health in children and adults with primary mitochondrial disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Eighty individuals with confirmed clinical and genetic diagnoses of primary mitochondrial disease at the Children's Hospital of Philadelphia (CHOP) were included in this study. Risk factors and bone health outcomes were collected systematically, including: anthropometrics (low BMI), risk\u2010conferring co\u2010morbidities and medications, vitamin D status, nutrition, immobility, fracture history, and, where available, dual energy x\u2010ray absorptiometry (DXA) bone mineral density (BMD) results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of patients 73% (<jats:italic>n<\/jats:italic> = 58) had at least one risk factor and 30% (<jats:italic>n<\/jats:italic> = 24) had four or more risk factors for poor bone health. The median number of risk factors per participant was 2, with an interquartile interval (IQI 0\u20134). In the subset of the cohort who were known to have sustained any lifetime fracture (<jats:italic>n<\/jats:italic> = 11), a total of 16 fractures were reported, six of which were fragility fractures, indicative of a clinically significant decrease in bone strength.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The prevalence of risk factors for poor bone health in primary mitochondrial disease is high. As part of supportive care, practitioners should address modifiable risk factors to optimize bone health, and have a low threshold to evaluate clinical symptoms that could suggest occult fragility fracture.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-017-0046-2","type":"journal-article","created":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T06:57:53Z","timestamp":1493276273000},"page":"673-683","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Risk factors for poor bone health in primary mitochondrial disease"],"prefix":"10.1002","volume":"40","author":[{"given":"Shifa S.","family":"Gandhi","sequence":"first","affiliation":[{"name":"Robert Wood Johnson Medical School Piscataway Township NJ USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colleen","family":"Muraresku","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth M.","family":"McCormick","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marni J.","family":"Falk","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia Philadelphia PA USA"},{"name":"Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shana E.","family":"McCormack","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia PA USA"},{"name":"Division of Endocrinology and Diabetes Children's Hospital of Philadelphia 3401 Civic Center Boulevard, Suite 11NW Philadelphia PA 19104 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.7812\/TPP\/12-037"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.HCR.0000320065.50976.7c"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocd.2014.01.004"},{"key":"e_1_2_9_5_1","volume-title":"GeneReviews(R)","author":"Chinnery PF","year":"1993"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-13878"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2004-815754"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep31907"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/10790268.2007.11753961"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2003.11.028"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-014-0568-1"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2015.01.021"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocd.2014.01.007"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2011.09.008"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1992.tb02289.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-0385"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2553"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.5650090802"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1155\/2015\/174186"},{"key":"e_1_2_9_20_1","first-page":"1","article-title":"CDC growth charts: United States","volume":"314","author":"Kuczmarski RJ","year":"2000","journal-title":"Adv Data"},{"key":"e_1_2_9_21_1","unstructured":"KuczmarskiRJ OgdenCL GuoSS Grummer\u2010StrawnLM FlegalKM MeiZ WeiR CurtinLR RocheAF JohnsonCL(2002)2000 CDC Growth Charts for the United States: methods and development. 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