Results 21 to 30 of about 281,511 (272)

Malignant transformation of monostotic fibrous dysplasia into angiosarcoma in the proximal tibia

Indian Journal of Pathology and Microbiology, 2021
The majority of bone angiosarcomas are primary tumors while secondary angiosarcomas arise after radiation therapy or bone infarctus. This article presents a case of malignant transformation of monostotic fibrous dysplasia into angiosarcoma.
Selin Narter, Ulviye Yalcinkaya, Muhammet S Bilgen, Zeynep Yazici   +3 more
doaj   +1 more source

Advances in Models of Fibrous Dysplasia/McCune-Albright Syndrome

Frontiers in Endocrinology, 2020
The Gs G-protein coupled receptor pathway is a critical regulator of normal bone formation and function. The Gs pathway increases intracellular cAMP levels by ultimately acting on adenylate cyclase.
H. Lung, E. Hsiao, K. Wentworth
semanticscholar   +1 more source

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia

Clinical Genetics, Volume 103, Issue 1, Page 45-52, January 2023., 2023
We describe the first patient with biallelic loss‐of‐function variants in the SLC13A1 gene, encoding a renal and intestinal sulfate transporter. The consequential loss of renal sulfate reabsorption leads to hypersulfaturia and hyposulfatemia which is associated with a mild Spondylo‐Epi‐Metaphyseal skeletal Dysplasia. Abstract Sulfate is the fourth most
Jiddeke M. van de Kamp, Arend Bökenkamp, Desiree E. C. Smith, Mirjam M. C. Wamelink, Erwin E. W. Jansen, Eduard A. Struys, Quinten Waisfisz, Marieke Verkleij, Michaela F. Hartmann, Rong Wang, Stefan A. Wudy, Chiara Paganini, Antonio Rossi, Martijn J. J. Finken   +13 more
wiley   +1 more source

Drug resistance in idiopathic generalized epilepsies: Evidence and concepts

Epilepsia, Volume 63, Issue 12, Page 3007-3019, December 2022., 2022
Abstract Although approximately 10%–15% of patients with idiopathic generalized epilepsy (IGE)/genetic generalized epilepsy remain drug‐resistant, there is no consensus or established concept regarding the underlying mechanisms and prevalence. This review summarizes the recent data and the current hypotheses on mechanisms that may contribute to drug ...
Joanna Gesche, Christoph P. Beier
wiley   +1 more source

Fibrous dysplasia and cherubism [PDF]

Indian Journal of Plastic Surgery, 2015
ABSTRACTFibrous dysplasia (FD) is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone ...
R. K. Mishra, Surajit Bhattacharya
openaire   +3 more sources

UniToPatho, a labeled histopathological dataset for colorectal polyps classification and adenoma dysplasia grading [PDF]

, 2021
Histopathological characterization of colorectal polyps allows to tailor patients' management and follow up with the ultimate aim of avoiding or promptly detecting an invasive carcinoma. Colorectal polyps characterization relies on the histological analysis of tissue samples to determine the polyps malignancy and dysplasia grade.
arxiv   +1 more source

Monostotic fibrous dysplasia in a 10-year-old patient

BLDE University Journal of Health Sciences, 2021
Fibrous dysplasia is a rare congenital bone disorder which manifests as a localized defect in osteoblastic differentiation and maturation with the replacement of normal bone with an abnormal scar-like fibrous connective tissue.
Gayatri Nayanar, Mamatha G S. Reddy
doaj   +1 more source

Correction to: Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Orphanet Journal of Rare Diseases, 2019
The original version of this article [1] unfortunately included an error to an author’s name. Paul Arundel was inadvertently presented as Paul Arunde.
Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton, Pieter Durk Sander Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Neveen Agnes Therese Hamdy, Michael Terrence Collins   +20 more
doaj   +1 more source

Polyostotic fibrous dysplasia (McCune-Albright) with rare multiple epiphyseal lesions in association with aneurysmal bone cyst and pathologic fracture

Radiology Case Reports, 2021
Fibrous dysplasia, including McCune-Albright syndrome, is a genetic, non-inheritable benign bone disorder that may involve a single or multiple bone, typically occurring in the diaphysis or the metaphysis of long bones. In very rare instances polyostotic
Alvaro Burdiles, MD, Rodrigo Marín, MD, Ianiv Klaber, MD, Antonieta Solar, MD, Miguel Calderón, MD, Felipe Jara, MD, Fernanda Kara, MD, Diego Bazáes, MD   +7 more
doaj  

Osteosarcomatous Transformation in Mazabraud Syndrome: A Case Report

대한영상의학회지, 2021
Mazabraud syndrome is a rare benign disease that is accompanied by polyostotic fibrous dysplasia and intramuscular myxoma. Malignant transformation of fibrous dysplasia occurs in approximately 1% of cases.
Yang Il Park, Ji Young Yoo, Joon Seog Kong   +2 more
doaj   +1 more source