Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome

Autor: Alison M. Boyce, Rachel K. Casey, Diana Ovejero Crespo, Cynthia M. Murdock, Andrea Estrada, Lori C. Guthrie, Beth A. Brillante, Veronica Gomez-Lobo, Lynette K. Nieman, Michael T. Collins

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

Abstract Background Autonomous ovarian activation with recurrent estrogen-producing cysts is a hallmark feature of the rare bone and endocrine disorder fibrous dysplasia/McCune-Albright syndrome. Precocious puberty in girls with McCune-Albright syndr

Externí odkaz: https://doaj.org/article/af1e78ce18b74956b266bfcb9aa74a7c

PTH 1-34 Replacement Therapy Has Minimal Effect on Quality of Life in Patients With Hypoparathyroidism

Autor: Lori C. Guthrie, Kelly L Roszko, Tiffany Y. Hu, Beth A Brillante, Michaele Smith, Rachel I Gafni, Michael T. Collins

Publikováno v: J Bone Miner Res

In addition to hypocalcemia, patients with hypoparathyroidism report poor quality of life (QOL), complaining of fatigue and "brain fog." Parathyroid hormone (PTH) therapy can effectively manage hypocalcemia; however, the effects of PTH treatment on Q

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dceb72c62c227d0144dba8d4f6f2f3bb
https://pubmed.ncbi.nlm.nih.gov/34585778

Hypocitraturia Is an Untoward Side Effect of Synthetic Human Parathyroid Hormone (hPTH) 1–34 Therapy in Hypoparathyroidism That May Increase Renal Morbidity

Autor: Rachel I Gafni, Craig B Langman, Lori C Guthrie, Beth A Brillante, Robert James, Nancy A Yovetich, Alison M Boyce, Michael T Collins

Publikováno v: Journal of Bone and Mineral Research. 37:818-818

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b8fdffcf9142699257b8a06d3dec3669
https://doi.org/10.1002/jbmr.4522

Octreotide Is Ineffective in Treating Tumor-Induced Osteomalacia: Results of a Short-Term Therapy

Autor: Azar Khosravi, Rachel I Gafni, Michael T. Collins, Diana Ovejero, Diala El-Maouche, Beth A Brillante

Publikováno v: Journal of Bone and Mineral Research. 32:1667-1671

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome in which unregulated hypersecretion of fibroblast growth factor 23 (FGF23) by phosphaturic mesenchymal tumors (PMT) causes renal phosphate wasting, hypophosphatemia, and osteomalacia.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f458e1483eb9a277209ef8e40254a88d
https://doi.org/10.1002/jbmr.3162

Treatment of Autosomal Dominant Hypocalcemia Type 1 with the Calcilytic NPSP795 (SHP635)

Autor: Edward F. Nemeth, Martin Schepelmann, Sarah C. Brennan, Daniela Riccardi, Mohd Ezuan Bin Khayat, Jamie Streit, Jeff Gelb, David Gash, Michael T. Collins, Beth A Brillante, Ralf Rosskamp, Eva Krusinska, Lori C. Guthrie, Donald T. Ward, Rachel I Gafni, Mary Scott Roberts

Publikováno v: Ward, D 2019, ' Treatment of Autosomal Dominant Hypocalcemia Type 1 with the Calcilytic NPSP795 (SHP635). ', Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research . https://doi.org/10.1002/jbmr.3747
J Bone Miner Res

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by heterozygous, gain-of-function mutations of the calcium-sensing receptor gene (CAR). Individuals are hypocalcemic with inappropriately low parathyroid hormon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc1fd563ea9b5eb45560eb4f5adf46fe
https://www.research.manchester.ac.uk/portal/en/publications/treatment-of-autosomal-dominant-hypocalcemia-type-1-with-the-calcilytic-npsp795-shp635(7c119083-254a-4840-ac56-5b5cfe3d19ab).html