Results 21 to 30 of about 6,213,342 (156)

Camurati-Engelmann Disease Complicated by Hypopituitarism: Management Challenges and Literature Review of Outcomes With Bisphosphonates. [PDF]

AACE Clin Case Rep, 2022
Das L, Dhiman V, Dutta P, Sood A, Prakash M, Kaur S, Steenackers E, Hendrickx G, Dayal D, Van Hul W, Bhadada SK.   +10 more
europepmc   +2 more sources

Regarding Camurati-Engelmann Disease: In Reply. [PDF]

Clin Orthop Surg, 2018
Yuldashev AJ, Shin CH, Kim YS, Jang WY, Park MS, Chae JH, Yoo WJ, Choi IH, Kim OH, Cho TJ.   +9 more
europepmc   +3 more sources

Regarding Camurati-Engelmann Disease: To the Editor. [PDF]

Clin Orthop Surg, 2018
Viana MM, Nunes SV, Fernandes Gomes DCF, de Andrade MAP, de Aguiar MJB.   +4 more
europepmc   +3 more sources

Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate. [PDF]

Rheumatology (Oxford)
Hassan N, Gregson CL, Oldridge M, Lester T, Duncan EL, Tobias JH.   +5 more
europepmc   +2 more sources

Unilateral hemicraniectomy with titanium cranioplasty for the treatment of high intracranial pressure in a pediatric patient with Camurati-Engelmann disease: illustrative case. [PDF]

J Neurosurg Case Lessons
BACKGROUND Camurati-Engelmann disease (CED) is an extremely rare autosomal dominant genetic disorder that can cause increased intracranial pressure (ICP) secondary to cranial hyperostosis, which decreases intracranial volume.
Guillen Arguello R, Sader N, McComb JG.
europepmc   +2 more sources

Increased Bone Formation and Accelerated Bone Mass Accrual in a Man Presenting with Diffuse Osteosclerosis/High Bone Mass Phenotype and Adenocarcinoma of Unknown Primary

JBMR Plus, Volume 7, Issue 8, August 2023., 2023
Lumbar spine and femoral neck BMD showed marked increases in the 18 months prior to presentation with incidental osteosclerosis. Iliac crest biopsy reveals dense trabecular bone reflecting sclerosis at the time of presentation. ABSTRACT A 71‐year‐old man was referred for evaluation of incidental generalized osteosclerosis.
Terrence H. Diamond, Carl Bryant, Richard Quinn, Sindhu T. Mohanty, Fiona Bonar, Paul A. Baldock, Michelle M. McDonald   +6 more
wiley   +1 more source

A new LRP6 variant and Camurati-Engelmann-like disease

, 2021
International audienceIntroduction: Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses.
Chapurlat, Roland, Feurer, Elodie, Ltaief-Boudrigua, Aicha, Pickering, Marie-Eva, Collet, Corinne   +4 more
core   +2 more sources

Nosology of genetic skeletal disorders: 2023 revision

American Journal of Medical Genetics Part A, Volume 191, Issue 5, Page 1164-1209, May 2023., 2023
Abstract The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to advances in DNA sequencing technology.
Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga   +20 more
wiley   +1 more source

LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6

JBMR Plus, Volume 7, Issue 4, April 2023., 2023
ABSTRACT Osteoblast Wnt/β‐catenin signaling conditions skeletal development and health. Bone formation is stimulated when on the osteoblast surface a Wnt binds to low‐density lipoprotein receptor‐related protein 5 (LRP5) or 6 (LRP6), in turn coupled to a frizzled receptor. Sclerostin and dickkopf1 inhibit osteogenesis if either links selectively to the
Michael P Whyte, Steven Mumm, Jonathan C Baker, Fan Zhang, Homer Sedighi, Shenghui Duan, Tim Cundy   +6 more
wiley   +1 more source

Macrophages and Bone Remodeling

Journal of Bone and Mineral Research, Volume 38, Issue 3, Page 359-369, March 2023., 2023
ABSTRACT Bone remodeling in the adult skeleton facilitates the removal and replacement of damaged and old bone to maintain bone quality. Tight coordination of bone resorption and bone formation during remodeling crucially maintains skeletal mass.
Megan M Weivoda, Elizabeth W Bradley
wiley   +1 more source