Results 31 to 40 of about 3,066 (177)

Spinal Melorheostosis Associated with Intradural Fibrous Band and Extensive Lipomatosis Causing Thoracic Cord Tethering and Myelomalacia: A Unique Case Highlighting Importance of MRI in Management

Indian Journal of Radiology and Imaging, 2022
Axial melorheostosis is rare with only few cases reported and even fewer with symptoms. While symptoms secondary to neural foramen or spinal canal stenosis caused by hyperostotic bone are common, only three symptomatic cases of spinal melorheostosis with
Kanchan Vivek Dhanokar, B.T. Pushpa, Ajoy Prasad Shetty, S. Rajasekaran   +3 more
doaj   +1 more source

Atypical presentation of melorheostosis with soft tissues involvement: a case report

The Egyptian Journal of Radiology and Nuclear Medicine, 2021
Background Melorheostosis is a skeletal disorder giving rise to a dripping wax appearance. The exact cause is still unclear, and the diagnosis is always challenging due to its wide differential diagnoses.
Kok King Chia, Juhara Haron, Nik Fatimah Salwati Nik Malek   +2 more
doaj   +1 more source

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

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

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

Journal of Bone and Mineral Research, Volume 38, Issue 2, Page 229-247, February 2023., 2023
ABSTRACT Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease‐causing genes from the literature, and we provide an overview of the signaling pathways and mechanisms involved in the pathogenesis of these ...
Dylan J.M. Bergen, Antonio Maurizi, Melissa M. Formosa, Georgina L.K. McDonald, Ahmed El‐Gazzar, Neelam Hassan, Maria‐Luisa Brandi, José A. Riancho, Fernando Rivadeneira, Evangelia Ntzani, Emma L. Duncan, Celia L. Gregson, Douglas P. Kiel, M. Carola Zillikens, Luca Sangiorgi, Wolfgang Högler, Ivan Duran, Outi Mäkitie, Wim Van Hul, Gretl Hendrickx   +19 more
wiley   +1 more source

The molecular genetics of RASopathies: An update on novel disease genes and new disorders

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022
Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies

Genes, Chromosomes and Cancer, Volume 61, Issue 11, Page 689-695, November 2022., 2022
Abstract Lateralized/segmental overgrowth disorders (LOs) encompass a heterogeneous group of congenital conditions with excessive body tissue growth. Documented molecular alterations in LOs mostly consist of somatic variants in genes of the PI3KCA/AKT/mTOR pathway or of chromosome band 11p15.5 imprinted region anomalies.
Alessandro Mussa, Antonella Turchiano, Simona Cardaropoli, Paola Coppo, Antonino Pantaleo, Rosanna Bagnulo, Carlotta Ranieri, Matteo Iacoviello, Antonella Garganese, Alessandro Stella, Stefano Gabriele Vallero, Daniele Bertin, Federica Santoro, Diana Carli, Giovanni Battista Ferrero, Nicoletta Resta   +15 more
wiley   +1 more source

Axial melorheostosis: A rare presentation

Radiology Case Reports, 2020
Melorheostosis is a rare sclerosing bone dysplasia that most commonly affects the lower extremity long bones in a sclerotomal distribution. Melorheostosis of the spine is a particularly rare manifestation of this disease.
Nikhil Bayya, BS, Anna Fairfax, BS, Courtney Dey, MD, Shawn Butela, MD, Frank Mihlon, MD   +4 more
doaj   +1 more source

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

JBMR Plus, Volume 6, Issue 8, August 2022., 2022
In this study two mosaic deletions were identified in two patients with skeletal dysplasia. After isolating genomic DNA from peripheral blood (steps 1‐2), whole‐genome sequencing was performed (step 3) and led to the identification of two somatic deletions in two genes already linked to skeletal conditions.
Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala‐Mello, Outi Mäkitie, Alice Costantini   +8 more
wiley   +1 more source

Characterization of novel lncRNA muscle expression profiles associated with meat quality in beef cattle

Evolutionary Applications, Volume 15, Issue 4, Page 706-718, April 2022., 2022
Abstract The aim of this study was to identify novel lncRNA differentially expressed (DE) between divergent animals for beef tenderness and marbling traits in Nellore cattle. Longissimus thoracis muscle samples from the 20 most extreme bulls (of 80 bulls set) for tenderness, tender (n = 10) and tough (n = 10) groups, and marbling trait, high (n = 10 ...
Maria Malane Magalhães Muniz, Larissa Fernanda Simielli Fonseca, Daiane Cristina Becker Scalez, Aroa Suarez Vega, Danielly Beraldo dos Santos Silva, Jesus Aparecido Ferro, Artur Loyola Chardulo, Fernando Baldi, Angela Cánovas, Lucia Galvão de Albuquerque   +9 more
wiley   +1 more source