Hypoparathyroidism in the adult: Epidemiology, diagnosis, pathophysiology, target‐organ involvement, treatment, and challenges for future research
- J. Bilezikian, Aliya A. Khan, J. Sanders
- Medicine, BiologyJournal of Bone and Mineral Research
- 1 October 2011
This review, which focuses primarily on hypoparathyroidism in the adult, provides a comprehensive summary of the latest information on this disease.
McCune-Albright syndrome
- C. Dumitrescu, M. Collins
- MedicineOrphanet Journal of Rare Diseases
- 19 May 2008
In addition to PP (vaginal bleeding or spotting and development of breast tissue in girls, testicular and penile enlargement and precocious sexual behavior in boys), other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth hormone excess, Cushing syndrome, and renal phosphate wasting.
FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting.
- M. Riminucci, M. Collins, P. Gehron Robey
- Medicine, BiologyJournal of Clinical Investigation
- 1 September 2003
It is found that FGF-23 is produced by normal and FD osteoprogenitors and bone-forming cells in vivo and in vitro and may play an important role in the renal phosphate-wasting syndrome associated with FD/MAS.
McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia
- M. Collins, F. Singer, E. Eugster
- MedicineOrphanet Journal of Rare Diseases
- 24 May 2012
Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as…
Skeletal site-specific characterization of orofacial and iliac crest human bone marrow stromal cells in same individuals.
- S. Akintoye, T. Lam, S. Shi, J. Brahim, M. Collins, P. Robey
- Medicine, BiologyBone
- 1 June 2006
Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome.
- S. Akintoye, Caroline M. Chebli, M. Collins
- Medicine, BiologyJournal of Clinical Endocrinology and Metabolism
- 1 November 2002
It was found that vision and hearing deficits were more common in patients with GH excess than in those without, and patients with a history of precocious puberty and GH excess who had reached skeletal maturity achieved normal adult height despite aHistory of early epiphyseal fusion.
Characterization of FN1–FGFR1 and novel FN1–FGF1 fusion genes in a large series of phosphaturic mesenchymal tumors
- Jen-Chieh Lee, Sheng-Yao Su, A. Folpe
- Medicine, BiologyModern Pathology
- 1 November 2016
Insight is provided into possible mechanisms underlying the pathogenesis of phosphaturic mesenchymal tumor and imply a central role of the FGF1-FGFR1 signaling pathway.
Normal vision despite narrowing of the optic canal in fibrous dysplasia.
- Janice S. Lee, E. FitzGibbon, M. Collins
- MedicineNew England Journal of Medicine
- 21 November 2002
Prophylactic decompression of the optic nerve does not appear to be indicated on the basis of the presence of fibrous dysplasia on diagnostic images alone, since it does not correlate with visual loss.
A prospective feasibility trial investigating the use of the Impella 2.5 system in patients undergoing high-risk percutaneous coronary intervention (The PROTECT I Trial): initial U.S. experience.
- S. Dixon, J. Henriques, W. O’Neill
- MedicineJACC: Cardiovascular Interventions
- 1 February 2009
Epidemiology and Diagnosis of Hypoparathyroidism.
- B. Clarke, E. Brown, R. Thakker
- Medicine, BiologyJournal of Clinical Endocrinology and Metabolism
- 4 March 2016
It is important for endocrinologists and other physicians who care for patients with hypoparathyroidism to be aware of recent advances in the epidemiology, diagnosis, and genetics of this disorder.
...
...