Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Carolyn M. Macica"'
Autor:
Carolyn M Macica, Steven M Tommasini
Publikováno v:
JBMR Plus, Vol 7, Iss 10, Pp n/a-n/a (2023)
ABSTRACT Degenerative osteoarthritis (OA) is recognized as an early‐onset comorbidity of X‐linked hypophosphatemia (XLH), contributing to pain and stiffness and limiting range of motion and activities of daily living. Here, we extend prior findin
Externí odkaz:
https://doaj.org/article/859058b1be0042598cfbeaa0fd8c40d7
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-4 (2022)
Abstract Background Muscarinic agonists are indicated for the treatment of many conditions including ileus, urinary retention, glaucoma, and Sjögren’s syndrome. Due to their lack of tissue specificity, these drugs can lead to undesirable side effe
Externí odkaz:
https://doaj.org/article/bdc5aad596ce456c8c8b07bad5df3da9
Publikováno v:
Journal of the Endocrine Society. 6
Context X-linked hypophosphatemia (XLH) is a rare and progressive metabolic phosphate-wasting disorder characterized by lifelong musculoskeletal comorbidities. Despite considerable physical disability, there are currently no disease-specific physical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c375476ba409ef2a30bee9f2103f01c
https://doi.org/10.1210/jendso/bvac094
https://doi.org/10.1210/jendso/bvac094
Publikováno v:
Journal of Patient-Centered Research and Reviews, Vol 7, Iss 2, Pp 176-188 (2020)
J Patient Cent Res Rev
J Patient Cent Res Rev
PURPOSE: X-linked hypophosphatemia (XLH) is a rare X-linked dominant metabolic bone disease, often diagnosed in childhood but causing increasing physical debilitation and pain in adulthood. Physical comorbidities of XLH in adulthood include pervasive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f65510ab305d0eb69170877e7659315
https://digitalrepository.aurorahealthcare.org/cgi/viewcontent.cgi?article=1727&context=jpcrr
https://digitalrepository.aurorahealthcare.org/cgi/viewcontent.cgi?article=1727&context=jpcrr
Autor:
Keith Steigbigel, Ramon Gonzalez, Tania Grgurich, Amy Steele, Erika J Parisi, Steven M. Tommasini, Carolyn M. Macica, Juan C. Garbalosa, Richard Feinn
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 105:e1798-e1814
Context X-Linked hypophosphatemia (XLH) is a lifelong metabolic disease with musculoskeletal comorbidities that dominate the adult clinical presentation. Objective The adult XLH disorder has yet to be quantified on the basis of the physical and funct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bea461421c72455aff2dac929177a2bd
https://doi.org/10.1210/clinem/dgaa064
https://doi.org/10.1210/clinem/dgaa064
Publikováno v:
Calcified tissue international. 111(3)
A major comorbidity of X-linked hypophosphatemia (XLH) is fibrocartilaginous tendinous insertion site mineralization resulting in painful enthesophytes that contribute to the adult clinical picture and significantly impact physical function. Enthesop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2bb04863c0f1b20ab54a348aebf30c3a
https://pubmed.ncbi.nlm.nih.gov/35618776
https://pubmed.ncbi.nlm.nih.gov/35618776
Autor:
Ayla Evins, Erik A. Imel, Melita Dvorak-Ewell, Agnès Linglart, Javier San Martin, Carolyn M. Macica, Alison Skrinar, Christina Theodore-Oklota
Publikováno v:
Journal of the Endocrine Society
Context X-linked hypophosphatemia (XLH) is characterized by excess fibroblast growth factor 23 (FGF23), hypophosphatemia, skeletal abnormalities, and growth impairment. We aimed to understand the burden of disease of XLH across the lifespan. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daf6ff4758baf2f07adaba0a788ecaaf
http://europepmc.org/articles/PMC6595532
http://europepmc.org/articles/PMC6595532
Publikováno v:
Journal of Orthopaedics. 16:55-60
X-linked hypophosphatemia (XLH) is associated with a pervasive, severe degenerative osteoarthritis. We conducted a retrospective chart review/patient survey using the Knee or Hip Osteoarthritis Outcome Score Physical Function Short Form. Fourteen tot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0b422e0878c84316e06ff095fc33fcd
https://doi.org/10.1016/j.jor.2018.12.007
https://doi.org/10.1016/j.jor.2018.12.007
Publikováno v:
Journal of the Endocrine Society
X-linked hypophosphatemia (XLH) arises due to inactivating mutations of the PHEX gene resulting in elevated circulating levels of the hormone FGF23, producing phosphaturia and impaired intestinal phosphate absorption. XLH is a lifelong metabolic dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb5a2d261b3b1e095e909abb14188ec
http://europepmc.org/articles/PMC8089516
http://europepmc.org/articles/PMC8089516
Publikováno v:
Endocrinology. 153:5906-5917
We have previously confirmed a paradoxical mineralizing enthesopathy as a hallmark of X-linked hypophosphatemia. X-linked hypophosphatemia is the most common of the phosphate-wasting disorders mediated by elevated fibroblast growth factor 23 (FGF23)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84758b51f0ea0703167369615a064227
https://doi.org/10.1210/en.2012-1551
https://doi.org/10.1210/en.2012-1551