Results 81 to 90 of about 6,163 (220)

Radioiodine treatment in McCune-Albright syndrome with hyperthyroidism

Indian Journal of Endocrinology and Metabolism, 2012
McCune-Albright syndrome (MAS) is a sporadic disease characterized by polyostotic fibrous dysplasia, "café-au-lait" spots and hyperfunctional endocrinopathies.
Dhritiman Chakraborty, Bhagwant Rai Mittal, Raghava Kashyap, Kuruva Manohar, Anish Bhattacharya, Anil Bhansali   +5 more
doaj   +1 more source

Genomic Imprinting and Cancer: From Primordial Germ Cells to Somatic Cells [PDF]

, 2006
Imprinted genes are a subset of genes that are expressed from only one of the parental alleles. The majority of imprinted genes have roles in growth regulation and are, therefore, potential oncogenes or tumour suppressors. Cancer is a disease of aberrant
Adele Murrell
core   +1 more source

Segmental corymbiform congenital melanocytic naevi: Implications for melanocytic embryology

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 10, Page e929-e931, October 2025.
Nicole Knöpfel, Paul Kuentz, Angana Mitra, Olumide Ogunbiyi, Antoine Communie, Pierre Vabres, Andrew Muinonen‐Martin, Neil J. Sebire, Ludovic Martin, Satyamaanasa Polubothu, Veronica A. Kinsler   +10 more
wiley   +1 more source

Navigating an Uninformative Genomic Test Result: A Practical Guide

Journal of Paediatrics and Child Health, Volume 61, Issue 3, Page 344-353, March 2025.
ABSTRACT Background Although genomic testing is increasingly standard of care for diagnosing children and adults with genetic conditions, over 50% of genomic testing will return an uninformative result. Aim To provide a practical guide for paediatricians on how to approach an uninformative genomic test result, and the pathways which may be available to
Laura St Clair, Claire Wong, Christopher Elliot, Kristi J. Jones, Margit Shah, Sarah Josephi‐Taylor, Sarah Sandaradura, Lesley Adès, Janine Smith, Rani Sachdev, Alan Ma   +10 more
wiley   +1 more source

Fibrous dysplasia for radiologists: beyond ground glass bone matrix

Insights into Imaging, 2018
Fibrous dysplasia (FD) is a congenital disorder arising from sporadic mutation of the α-subunit of the Gs stimulatory protein. Osseous changes are characterised by the replacement and distortion of normal bone with poorly organised, structurally unsound,
Yevgeniya S. Kushchayeva, Sergiy V. Kushchayev, Tetiana Y. Glushko, Sri Harsha Tella, Oleg M. Teytelboym, Michael T. Collins, Alison M. Boyce   +6 more
doaj   +1 more source

Dermoscopy aids in differentiating café‐au‐lait macules from congenital melanocytic nevi in patients with darker skin phototypes

Pediatric Dermatology, Volume 42, Issue 1, Page 212-215, January/February 2025.
Abstract Dermoscopy aids in the diagnosis and management of pigmented growths and disorders of pigmentation in children. However, there is limited literature on the dermoscopic appearance of café‐au‐lait macules (CALMs) and congenital melanocytic nevi in patients with dark skin.
Asghar Shah, Elena B. Hawryluk, Elizabeth V. Seiverling   +2 more
wiley   +1 more source

Fibro-osseous lesion of maxilla. Report of two cases in a family with review of literature [PDF]

, 2011
Fibrous dysplasia is a disturbance of bone metabolism that is classified as a benign fibro-osseous lesion. Fibrous connective tissue containing abnormal bone, replaces normal bone. The etiology of fibrous dysplasia is unknown.
Kaur, Bhawandeep, Shambulingappa, P., Sheikh, Soheyl   +2 more
core   +1 more source

Rebound Hypercalcemia After Denosumab Cessation in Adult Fibrous Dysplasia: A Case Report and Clinical Alert

Case Reports in Endocrinology, Volume 2025, Issue 1, 2025.
Background: Fibrous dysplasia (FD) is a rare congenital bone disease. Denosumab, a monoclonal antibody targeting nuclear factor kappa‐B ligand (RANKL), suppresses osteoclast activity and exhibits therapeutic potential for FD. Case Presentation: We present the case of an adult female patient diagnosed with FD who had undergone 7 treatment cycles of ...
Danni Liu, Jiayi Chen, Hongmei Chen, Wenxue Hu, Jinxin Lin, Kalyani Sen   +5 more
wiley   +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.
Hsuan Lung, Hsuan Lung, Hsuan Lung, Edward C. Hsiao, Edward C. Hsiao, Kelly L. Wentworth, Kelly L. Wentworth   +6 more
doaj   +1 more source

Late‐Onset Nonhereditary Cherubism: First Reported Case in Ghana With Review of Diagnostic and Management Challenges

Case Reports in Radiology, Volume 2025, Issue 1, 2025.
Background Cherubism is a rare genetic disorder characterised by multilocular cystic lesions in the mandible and/or maxilla, which result in the typical cherub‐like face. Two forms of cherubism exist—hereditary (familial) and nonhereditary (nonfamilial)—and it usually occurs amongst children aged 2–7 years.
Seth Kwadjo Angmorterh, Mariella Mawunyo Amoussou-Gohoungo, Adam Inusah, Bridgette Palm, Kafui Kossi Kekessie, Riaan van de Venter, Sonia Aboagye, Cosmos Yarfi, John Nsor-Atindana, Portia Mamle Angmorterh, Klenam Dzefi-Tettey, Anusha Vaddi   +11 more
wiley   +1 more source