Results 31 to 40 of about 2,181,916 (247)

Patient with McCune albright syndrome: Case report and 10 Years of follow-up imaging examination. [PDF]

J Clin Exp Dent, 2023
The McCune Albright syndrome (MAS) is a rare, multi-system disease composed of the triad of polyostotic fibrous dysplasia of bone (PFDB), café-au-lait skin hyperpigmentation, and endocrine disorders.
Gandra TC, Tavares IC, Carlos AL, Rodrigues LG, Lima IA, Manzi FR.   +5 more
europepmc   +3 more sources

Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS). [PDF]

Genes (Basel)
GNAS-activating somatic mutations give rise to Fibrous Dysplasia/McCune–Albright syndrome (FD/MAS). The low specificity of extra-skeletal signs of MAS and the mosaic status of the mutations generate some difficulties for a proper diagnosis.
Vado Y, Manero-Azua A, Pereda A, Perez de Nanclares G.   +3 more
europepmc   +2 more sources

Mc Cune Albright syndrome: gynecological perspective [PDF]

, 2023
The key features of McCune-Albright syndrome include sexual precocious puberty, polyostotic fibrous dysplasia and café au lait spots. It is associated with hyperfunction of multiple endocrine glands.
Dharani E., P., Priyadharshini, Thangamani M.   +2 more
core   +2 more sources

Incidence and Prevalence of Fibrous Dysplasia/McCune-Albright Syndrome: A Nationwide Registry-Based Study in Denmark.

J Clin Endocrinol Metab
Context Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic disorder. Incidence and prevalence are not well-studied. Epidemiological research is complicated by the rarity of FD/MAS, absence of registries, heterogeneous presentation, and
Meier ME, Vágó E, Abrahamsen B, Dekkers OM, Horváth-Puhó E, Rejnmark L, Appelman-Dijkstra NM.   +6 more
europepmc   +2 more sources

Clinical value of RANKL, OPG, IL-6 and sclerostin as biomarkers for fibrous dysplasia/McCune-Albright syndrome.

Bone, 2023
BACKGROUND Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare genetic bone disease caused by a somatic mutation in the GNAS gene. Currently used bone turnover markers (BTMs) do not correlate with the clinical picture and are not useful to ...
M. Meier, M. Hagelstein-Rotman, T. Streefland, Liesbeth Winter, Nathalie Bravenboer, N. Appelman-Dijkstra   +5 more
semanticscholar   +1 more source

Sindrom McCune Albright Dengan Manifestasi Fraktur Berulang [PDF]

, 2021
Abstrak Sindrom McCune-Albright (SMA) merupakan kelainan genetik kompleks yang ditandai dengan trias displasia fibrosa poliostotik, café-au-lait, dan hiperfungsi endokrin. Sindrom ini termasuk penyakit langka dengan prevalens sebesar 1 per 100.000 hingga
Nadya, Ruth, Soesanti, Frida
core   +2 more sources

Safety of therapy with and withdrawal from denosumab in fibrous dysplasia and McCune‐Albright syndrome: an observational study

Journal of Bone and Mineral Research, 2021
Denosumab (Dmab) treatment can benefit patients with fibrous dysplasia/McCune‐Albright syndrome (FD/MAS) by suppressing the receptor activator of nuclear factor κB ligand (RANKL)‐mediated increased bone resorption.
M. Meier, Stance N. Clerkx, E. Winter, A. Pereira, A. C. van de Ven, M. V. D. van de Sande, N. Appelman‐Dijkstra   +6 more
semanticscholar   +1 more source

Decoding of Quantum Data-Syndrome Codes via Belief Propagation [PDF]

in Proc. IEEE International Symposium on Information Theory (ISIT), 2021, pp. 1552--1557, 2021
Quantum error correction is necessary to protect logical quantum states and operations. However, no meaningful data protection can be made when the syndrome extraction is erroneous due to faulty measurement gates. Quantum data-syndrome (DS) codes are designed to protect the data qubits and syndrome bits concurrently.
arxiv   +1 more source

Acromegalia por macroadenoma hipofisiario en paciente con síndrome de McCune-Albright. Reporte de caso y revisión de la literatura [PDF]

, 2022
Background: McCune-Albright syndrome (MAS) is a rare disease characterized by the triad: café-au-lait skin spots, polyostotic fibrous dysplasia, and precocious puberty.
Alcalde-Loyola, Carlos, Concepción-Urteaga, Luis, Concepción-Zavaleta, Marcio, Gallardo-Rojas, Wilson, Ildefonso-Najarro, Sofía, Ramos-Yataco, Anthony, Rios-Rojas, Jeniffer   +6 more
core   +2 more sources

McCune-Albright Syndrome in Infant with Growth Hormone Excess. [PDF]

Genes (Basel), 2022
Background: McCune-Albright is a rare syndrome, caused by mutation of the GNAS1 gene, and is characterized by an appearance of multiple endocrinopathies, most commonly premature puberty, polyostotic fibrous dysplasia and skin changes called cafe au lait ...
Brzica K, Simunovic M, Ivancic M, Tudor D, Skrabic I, Skrabic V.   +5 more
europepmc   +2 more sources