Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Kathryn M Dahir"'
Autor:
Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Andrew Messali, Shona Fang, Cheryl Rockman-Greenberg, Keiichi Ozono, Wolfgang Högler, Lothar Seefried, Kathryn M. Dahir
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Hypophosphatasia (HPP) is a rare inherited disease caused by deficient activity of tissue-nonspecific alkaline phosphatase. Many adults with HPP have a high burden of disease, experiencing chronic pain, fatigue, limited mobility,
Externí odkaz:
https://doaj.org/article/37968c05241044a7ae66037fae804ebb
Publikováno v:
Case Reports in Rheumatology, Vol 2024 (2024)
Objectives. Rare metabolic bone diseases can present with symptoms mimicking more common rheumatological conditions including spondyloarthritis, osteoarthritis, and fibromyalgia. Increasing awareness of these rare diseases within the rheumatology com
Externí odkaz:
https://doaj.org/article/3d65abb7cf024d38b6e4394fe4ff15e2
Autor:
Juan M. Colazo, Julia Quirion, Anthony D. Judice, Jennifer Halpern, Herbert S. Schwartz, S. Bobo Tanner, Joshua M. Lawrenz, Kathryn M. Dahir, Ginger E. Holt
Publikováno v:
Bone Reports, Vol 19, Iss , Pp 101715- (2023)
Background: Metabolic bone diseases (MBD) are typically diagnosed by non-invasive imaging and clinical biomarkers. However, imaging does not provide structural information, and biomarkers can be transiently affected by many systemic factors. Bone bio
Externí odkaz:
https://doaj.org/article/728dce1dcd3644dc9deb28f78acda3ab
Autor:
Kathryn M. Dahir, Lothar Seefried, Priya S. Kishnani, Anna Petryk, Wolfgang Högler, Agnès Linglart, Gabriel Ángel Martos-Moreno, Keiichi Ozono, Shona Fang, Cheryl Rockman-Greenberg
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background The clinical signs and symptoms of hypophosphatasia (HPP) can manifest during any stage of life. The age at which a patient’s symptoms are reported can impact access to targeted treatment with enzyme replacement therapy (asfotas
Externí odkaz:
https://doaj.org/article/3b71631dff824edd8fcf1b9f203f0927
Autor:
Kathryn M. Dahir, Priya S. Kishnani, Gabriel Ángel Martos-Moreno, Agnès Linglart, Anna Petryk, Cheryl Rockman-Greenberg, Samantha E. Martel, Keiichi Ozono, Wolfgang Högler, Lothar Seefried
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionHypophosphatasia (HPP) manifests in adults as fractures/pseudofractures, pain, muscle weakness, and other functional impairments. Better phenotypic disease characterization is needed to help recognize disability and treat patients with HP
Externí odkaz:
https://doaj.org/article/5e063fc646ab473a8ee30714e836a6df
Publikováno v:
Radiology Case Reports, Vol 15, Iss 5, Pp 492-497 (2020)
Tumor-induced osteomalacia (TIO) is a rare disease in which patients suffer from fractures and progressive disabling bone pain and muscle weakness. TIO is caused by the hypersecretion of Fibroblast Growth Factor 23 (FGF23) from rare neoplasms of mese
Externí odkaz:
https://doaj.org/article/c3a48455c08d4868aa730790ad7fdeec
Autor:
Seth A. Reasoner, BA, Juan M. Colazo, BSc, Jonathan Tucci, MD, PhD, Justin Cates, MD, PhD, Kathryn M. Dahir, MD
Publikováno v:
Radiology Case Reports, Vol 15, Iss 4, Pp 344-348 (2020)
Chronic osteomyelitis can be difficult to diagnose given its similar radiographic appearance to other lesions. This case report describes a 48-year-old woman, who presented with left thigh pain and on radiography a large disorganized sclerotic lesion
Externí odkaz:
https://doaj.org/article/4256d8c2512b4043bd7ccb46d749e428
Autor:
Juan M. Colazo, BSc, Joseph A. DeCorte, BS, Erin A. Gillaspie, MD, MPH, Andrew L. Folpe, MD, Kathryn M. Dahir, MD
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 100744- (2021)
Tumor-induced osteomalacia (TIO), caused by phosphaturic mesenchymal tumors (PMTs), is a rare paraneoplastic syndrome characterized by frequent bone fractures, bone pain, muscle weakness, and affected gait. These tumors typically secrete high levels
Externí odkaz:
https://doaj.org/article/ce3ae98c10d64f2395f285204805e65c
Autor:
Erin Huggins, Ricardo Ong, Cheryl Rockman-Greenberg, Lauren Bailey Flueckinger, Kathryn M. Dahir, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100661- (2020)
Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the ALPL gene. This leads to deficiency of tissue non-specific alkaline phosphatase (TNSALP), resulting in decreased mineralization of the bones and/or teeth
Externí odkaz:
https://doaj.org/article/843550e0946b43caa1256de132eeb1ee
Publikováno v:
Case Reports in Endocrinology, Vol 2020 (2020)
We describe a case of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) in a 32-year-old female with short stature, chronic pathologic genu valgum deformity, and knee pain who was referred to endocrinology clinic after previous inconclus
Externí odkaz:
https://doaj.org/article/8c1c369647b64207a56b2619d86d5fc0