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Hypoparathyroidism: Genetics and Diagnosis.
Mannstadt M, Cianferotti L, Gafni RI, Giusti F, Kemp EH, Koch CA, Roszko KL, Yao L, Guyatt GH, Thakker RV, Xia W, Brandi ML. Mannstadt M, et al. Among authors: gafni ri. J Bone Miner Res. 2022 Dec;37(12):2615-2629. doi: 10.1002/jbmr.4667. Epub 2022 Nov 14. J Bone Miner Res. 2022. PMID: 36375809 Free article.
We also undertook a systematic review addressing the utility of measuring calcium and PTH within 24 hours after total thyroidectomy to predict long-term hypoparathyroidism. A summary of the findings is presented here; results of the detailed systematic review are published …
We also undertook a systematic review addressing the utility of measuring calcium and PTH within 24 hours after total thyroidectomy to predi …
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley IR, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal MZ, Levine MA, Gafni RI, Gahl WA. Ferreira CR, et al. Among authors: gafni ri. Genet Med. 2021 Feb;23(2):396-407. doi: 10.1038/s41436-020-00983-0. Epub 2020 Oct 2. Genet Med. 2021. PMID: 33005041 Free PMC article.
PURPOSE: Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after birth, is usually caused by deficiency of ENPP1. A small fraction of GACI cases result from deficiency of ABCC6, a membrane transporte …
PURPOSE: Generalized arterial calcification of infancy (GACI), characterized by vascular calcifications that are often fatal shortly after …
Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome.
Estrada A, Boyce AM, Brillante BA, Guthrie LC, Gafni RI, Collins MT. Estrada A, et al. Among authors: gafni ri. Eur J Endocrinol. 2016 Nov;175(5):477-483. doi: 10.1530/EJE-16-0526. Epub 2016 Aug 25. Eur J Endocrinol. 2016. PMID: 27562402 Free PMC article.
OBJECTIVE: McCune-Albright syndrome (MAS) is a rare disorder with a broad spectrum including precocious puberty (PP) due to recurrent estrogen-secreting ovarian cysts. This study evaluates the long-term safety and efficacy of letrozole treatment in large cohort of girls wi …
OBJECTIVE: McCune-Albright syndrome (MAS) is a rare disorder with a broad spectrum including precocious puberty (PP) due to recurrent estrog …
Stability and degradation of fibroblast growth factor 23 (FGF23): the effect of time and temperature and assay type.
El-Maouche D, Dumitrescu CE, Andreopoulou P, Gafni RI, Brillante BA, Bhattacharyya N, Fedarko NS, Collins MT. El-Maouche D, et al. Among authors: gafni ri. Osteoporos Int. 2016 Jul;27(7):2345-2353. doi: 10.1007/s00198-016-3543-5. Epub 2016 Feb 29. Osteoporos Int. 2016. PMID: 26928188
Both plasma and serum FGF23 levels demonstrated relative stability after five freeze-thaw cycles. Long-term storage at -80 C for 40 months induced some variability in FGF23 levels. ...
Both plasma and serum FGF23 levels demonstrated relative stability after five freeze-thaw cycles. Long-term storage at -80 C for 40 m …
Transient Increased Calcium and Calcitriol Requirements After Discontinuation of Human Synthetic Parathyroid Hormone 1-34 (hPTH 1-34) Replacement Therapy in Hypoparathyroidism.
Gafni RI, Guthrie LC, Kelly MH, Brillante BA, Christie CM, Reynolds JC, Yovetich NA, James R, Collins MT. Gafni RI, et al. J Bone Miner Res. 2015 Nov;30(11):2112-8. doi: 10.1002/jbmr.2555. Epub 2015 Aug 3. J Bone Miner Res. 2015. PMID: 25990370 Free article. Clinical Trial.
The transient increased requirements accompanied by increased BMD after long-term hPTH 1-34 therapy suggest a reversal of the expanded remodeling space favoring bone formation as the skeleton returns to a low-turnover state, reminiscent of the hungry bone syndrome. ...
The transient increased requirements accompanied by increased BMD after long-term hPTH 1-34 therapy suggest a reversal of the expande …
Approach to the child with fractures.
Boyce AM, Gafni RI. Boyce AM, et al. Among authors: gafni ri. J Clin Endocrinol Metab. 2011 Jul;96(7):1943-52. doi: 10.1210/jc.2010-2546. J Clin Endocrinol Metab. 2011. PMID: 21734001 Free PMC article.
The use of bisphosphonates in children and adolescents is controversial due to lack of long-term efficacy and safety data and should be limited to clinical trials and compassionate therapy in children with significantly compromised quality of life. Close monitoring is requ …
The use of bisphosphonates in children and adolescents is controversial due to lack of long-term efficacy and safety data and should …