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Phenotypic Variability in Camurati-Engelmann Disease: A Case Report of a Family with the c.653G>A Pathogenic Variant in the Gene.
Genes (Basel)
October 2024
Replicon Research Nucleus, Graduate Program in Genetics, School of Medical and Life Sciences, Pontifical Catholic University of Goiás, Goiânia 74605-050, GO, Brazil.
Camurati-Engelmann Disease (CED), or Progressive Diaphyseal Dysplasia, is a rare autosomal dominant disorder caused by heterozygous mutations in the Gene, essential for bone regeneration. This study examines the genotype-phenotype relationship in a family diagnosed with CED, specifically focusing on a missense variant (c.653G>A, p.
View Article and Find Full Text PDFUnveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient.
Pediatr Rheumatol Online J
October 2024
Department of Pediatric Rheumatology, Ankara Etlik City Hospital, Ankara, Turkey.
Article Synopsis
- Camurati-Engelmann disease (CED) is a rare genetic illness that makes long bones in the body grow thicker than normal, causing pain and trouble walking.
- A 30-month-old boy was found to have CED after initial treatments for a different condition didn't work, and special tests showed changes in his TGFB-1 gene.
- Since CED is rare and can show different symptoms, doctors need to be careful and think of it when diagnosing patients to help manage their symptoms better.
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.
J Hum Genet
November 2024
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan.
Article Synopsis
- - Camurati-Engelmann disease (CED) is a genetic bone disorder categorized into two types based on TGFB1 mutations, where CED2 lacks these mutations.
- - In this study, researchers discovered two new mutations in the TGFB2 gene in CED2 patients, which affect a specific region of the gene, potentially leading to increased TGF-β2 activity and bone formation.
- - The findings indicate that CED2 may result from heightened TGF-β2 signaling due to a loss of regulatory functions of the latency-associated peptide (LAP), highlighting distinct roles of TGFB1 and TGFB2 in bone development.
Ribbing's disease is a rare form of sclerosing bone dysplasia characterized by exuberant yet benign endosteal bone, and periosteum formation in the diaphysis of long bones. Diagnosis relies on exclusionary criteria, as the primary clinical manifestations entail progressive pain unresponsive to analgesic therapy, accompanied by serological markers within normal ranges. Pain management constitutes the cornerstone of treatment, with surgery appearing to offer the most efficacious approach, despite the absence of a standardized therapeutic algorithm.
View Article and Find Full Text PDFA new case of Melnick-Needles syndrome with skeletal manifestations: A case report.
Int J Surg Case Rep
September 2023
Orthopedic Department, Orthopedic Surgery Research Center (OSRC), Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Introduction And Importance: Melnick-Needles syndrome (MNS) is a rare skeletal dysplasia that affects skeletal and connective tissue. Less than 70 cases of MNS reported in the literature. MNS had various clinical manifestations such as skeletal deformity, cortical bony sclerosis, facial abnormality, and urogenital symptoms.
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