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Hajdu-Cheney Syndrome, a Rare Cause of Acro-Osteolysis and Osteoporosis With Zoledronic Acid Experience.
Am J Med Genet A
January 2025
Department of Pediatric Genetics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey.
Hajdu-Cheney syndrome (HCS), caused by a heterozygous gain of function variant of the NOTCH2 gene, is a rare skeletal dysplasia. Although the main presentation is acro-osteolysis, osteoporosis, and facial dysmorphism, having a wide range of clinical manifestations creates diagnostic difficulties. Here, a 15-year-old male patient with HCS who had no complaints until this age except for two short bone fractures and one vertebral collapse fracture due to a fall was reported.
View Article and Find Full Text PDFA NOTCH2 pathogenic variant and HES1 regulate osteoclastogenesis in induced pluripotent stem cells.
Bone
February 2025
Department of Orthopaedic Surgery, UConn Health, Farmington, CT, USA; UConn Musculoskeletal Institute, UConn Health, Farmington, CT, USA.
Hajdu Cheney Syndrome (HCS), a monogenic disorder associated with NOTCH2 pathogenic variants, presents with neurological, craniofacial and skeletal abnormalities. Mouse models of the disease exhibit osteopenia. To determine the consequences of a HCS pathogenic variant in human cells, induced pluripotent NCRM1 and NCRM5 stem (iPS) cells harboring a NOTCH2 mutation or null for HES1 alleles were created.
View Article and Find Full Text PDFDisorganized chromatin hierarchy and stem cell aging in a male patient of atypical laminopathy-based progeria mandibuloacral dysplasia type A.
Nat Commun
November 2024
Guangdong Cardiovascular Institute, Medical Research Institute, Guangdong Key Laboratory for Immune and Genetic Research of Chronic Nephropathy, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou, China.
Studies of laminopathy-based progeria offer insights into aging-associated diseases and highlight the role of LMNA in chromatin organization. Mandibuloacral dysplasia type A (MAD) is a largely unexplored form of atypical progeria that lacks lamin A post-translational processing defects. Using iPSCs derived from a male MAD patient carrying homozygous LMNA p.
View Article and Find Full Text PDFCombined radiographic and ultrasound evaluations to decipher joint involvement in the hands of patients with systemic sclerosis.
Rheumatology (Oxford)
October 2024
Department of Radiology, CHU Rennes, Univ Rennes, France.
Objective: The objective of this study was to explore the etiologies and contributing factors of synovial and tenosynovial involvement in SSc, as well as to assess the phenotype of patients with these synovial and tenosynovial features.
Methods: 171 SSc patients with hand manifestations (either vascular, skin or joint manifestations) who underwent standard X-rays of both hands and hand ultrasound (US), were included. Two independent evaluators recorded the presence or absence of acro-osteolysis, calcinosis, microcrystalline and degenerative rheumatisms, including osteophytosis on X-Rays.
Unraveling the Pathogenesis of Calcinosis in Systemic Sclerosis: A Molecular and Clinical Insight.
Int J Mol Sci
October 2024
Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, 20132 Milan, Italy.
Article Synopsis
- Dystrophic calcinosis is a condition where calcified materials accumulate in tissues despite normal calcium and phosphorus levels, commonly seen in systemic sclerosis (SSc) and significantly impacting patient quality of life.
- The management of calcinosis in SSc is challenging due to risks like infection, pain, and the absence of standardized treatment options, with its precise causes still unclear.
- Factors contributing to calcinosis development include cell differentiation, mineralization imbalances, and local disturbances in mineral levels, alongside pathophysiological changes in SSc that may promote its formation, highlighting the need for further research into underlying mechanisms for potential treatment strategies.
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