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How do lesions affect limb lengthening in children with Ollier's disease?
BMC Musculoskelet Disord
January 2025
Department of Pediatric Orthopaedics, Children's Hospital of Fudan University, National Children's Medical Center, 399 Wanyuan Rd, Minhang District, Shanghai, 201102, China.
Purpose: Ollier's disease (multiple enchondromatosis) can cause severe lower limb length discrepancy and deformity in children. Osteotomy and limb lengthening with external fixation can correct the lower extremity deformity. There may be lesions in the osteotomy part (OP), and the internal fixation part of the external fixation(FP).
View Article and Find Full Text PDFMeta-analyses uncover the genetic architecture of Idiopathic Inflammatory Myopathies.
Arthritis Rheumatol
December 2024
Institute for Clinical and Translational Research, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
Objective: Idiopathic inflammatory myopathies (myositis, IIMs) are rare, systemic autoimmune disorders that lead to muscle inflammation, weakness, and extra-muscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis dataset to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.
View Article and Find Full Text PDFEnchondroma Protuberans of the Hand: A Rare Cartilaginous Tumor.
J Orthop Case Rep
December 2024
Department of Orthopaedics, ACS Medical College and Hospital, Dr MGR Educational and Research Institute, Chennai, Tamil Nadu, India.
Introduction: Enchondroma protuberans (EP), a rare form of enchondroma with exophytic growth, differs radiographically from classical enchondromas and can mimic osteochondroma, periosteal chondroma, or chondrosarcoma. Proper differentiation is crucial to avoid unnecessary radical resection, as EP requires intralesional curettage rather than the surgical removal typical for osteochondromas.
Case Report: A 14-year-old male presented with a progressively enlarging, painless mass on the lateral aspect of his left hand, initially noticed 4 years ago.
Update on cancer screening in children with syndromes of bone lesions, hereditary leiomyoma and renal cell carcinoma syndrome, and other rare syndromes.
Clin Cancer Res
November 2024
National Cancer Institute, Bethesda, MD, United States.
The management of children with syndromes associated with an increased risk of benign and malignant neoplasms is a complex challenge for healthcare professionals. The 2023 AACR Childhood Cancer Predisposition Workshop provided updated consensus guidelines on cancer surveillance in these syndromes, aiming to improve early detection, intervention, and reduce morbidity associated with such neoplasms. In this paper, we review several of the rare conditions discussed in this workshop.
View Article and Find Full Text PDFSpectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory.
Orphanet J Rare Dis
November 2024
Sorbonne Université, Inserm, CNRS, UMR S 1127, Institut du Cerveau, ICM, AP-HP, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, Service de Neuro-oncologie, Paris, France.
Article Synopsis
- The study aims to enhance understanding of tumor development in patients with Ollier disease (OD) and Maffucci syndrome (MS), focusing on IDH-mutated tumors and their origins.
- It proposes that a single IDH-mutant cell could lead to various tumors due to early embryonic mutations and that not all mutated cells will display the IDH mutant characteristics.
- Additionally, it suggests that specific genetic predispositions (SNPs) may increase the likelihood of developing particular tumors in these patients, linking developmental defects to tumor occurrence.
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