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| http://dx.doi.org/10.1503/cmaj.240818 | DOI Listing |
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Disorganized 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 PDFAcro-osteolysis in primary hyperparathyroidism.
CMAJ
October 2024
Departments of Endocrinology (Pal, Bhadada) and Radiodiagnosis and Imaging (Dua), Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Severe Acro-osteolysis Mimicking Arthritis Mutilans in a Patient with Primary Hyperparathyroidism: A Case Report.
Curr Rheumatol Rev
July 2024
Department of Propedeutics of Internal Diseases, Medical University of Plovdiv, Medical Faculty, Plovdiv, Bulgaria.
Background: Primary hyperparathyroidism (PHPT) should be considered in the differential diagnosis of a patient with suspected secondary osteoporosis, and severe osteoporosis with multiple fractures is frequently the first clinical manifestation of the disease.
Case Presentation: Mutilating arthritis (arthritis mutilans) can be part of the clinical presentation of a number of rheumatic diseases, most commonly seen in psoriatic arthritis, rheumatoid arthritis, and juvenile idiopathic arthritis, but also in systemic lupus, systemic sclerosis, and multicentric reticulohistiocytosis. Evidence exists that subperiosteal and subchondral bone resorption, seen in PHPT, could induce the so-called 'osteogenic synovitis', which could eventually lead to the development of a secondary osteoarthritis with bone deformities.
Orofacial characteristics in a child with Hajdu-Cheney syndrome.
Spec Care Dentist
March 2024
Department of Pediatric and Preventive Dentistry, Centre for Dental Education and Research, All India Institute of Medical Sciences, New Delhi, India.
Hajdu-Cheney syndrome (HCS) also known as Cranio-skeletal dysplasia is a rare genetic disorder of bone metabolism. It is mainly characterized by acro-osteolysis and generalized osteoporosis. The other distinctive features include a dysmorphic face, short stature, aplasia of facial sinuses, and persistent cranial sutures.
View Article and Find Full Text PDFCase report: Novel homozygous HPGD variant leads to primary hypertrophic osteoarthropathy with intussusception and acro-osteolysis in a Chinese family.
Front Pediatr
March 2023
Department of Rheumatology and Immunology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Huazhong, China.
Article Synopsis
- The study analyzes a 7-year-old boy with primary hypertrophic osteoarthropathy (PHO) presenting symptoms like delayed cranial suture closure, eczema, and joint swelling, alongside malnourishment and intestinal issues.
- Using trio whole-exome sequencing and Sanger sequencing, researchers found novel genetic variants associated with the condition, specifically in the HPGD gene.
- The findings suggest that HPGD deficiency in humans can lead to unique digestive problems and vitamin D deficiencies, which expands the understanding of PHO in pediatric patients.
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