Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Clinical course and factors associated with progressive acro-osteolysis in early systemic sclerosis: a retrospective cohort study.
Sci Rep
March 2024
Division of Rheumatology, Department of Medicine, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.
To examine clinical course of early systemic sclerosis (SSc) and identify factors for progression of acro-osteolysis by a retrospective cohort study. Dual time-point hand radiography was performed at median interval (range 3.0 ± 0.
View Article and Find Full Text PDFMulticentric Carpo-Tarsal Osteolysis Syndrome (MCTO) and "Function Profile": a rehabilitative approach.
Orphanet J Rare Dis
December 2023
Rare Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Multicentric Carpo-Tarsal Osteolysis Syndrome (MCTO) is an autosomal dominant disease with increased bone reabsorption in the carpus and tarsus and the elbows, knees and spine. The disease is extremely heterogeneous and secondary and tertiary injuries vary widely and can lead to progressive disability and severe functional limitations. In addition to the available and upcoming drug therapies, physical medicine and rehabilitation are important treatment options.
View Article and Find Full Text PDFIdiopathic Acroosteolysis: A Novel Cutaneous Sign Can Help Identify the Condition Early.
Case Rep Dermatol
March 2023
Department of Dermatology, Warren Alpert Medical School at Brown University, Providence, RI, USA.
Acroosteolysis (AO) is a rare condition characterized by resorption of the distal phalanges of the fingers and/or toes. It can be familial, idiopathic (IAO), occupational, or secondary. Other authors suggest a classification into primary (genetic disorders, lysosomal storage disorders) or secondary AO.
View Article and Find Full Text PDFPrecision treatment of Singleton Merten syndrome with ruxolitinib: a case report.
Pediatr Rheumatol Online J
April 2022
Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Background: Singleton-Merten syndrome 1 (SGMRT1) is a rare type I interferonopathy caused by heterozygous mutations in the IFIH1 gene. IFIH1 encodes the pattern recognition receptor MDA5 which senses viral dsRNA and activates antiviral type I interferon (IFN) signaling. In SGMRT1, IFIH1 mutations confer a gain-of-function which causes overactivation of type I interferon (IFN) signaling leading to autoinflammation.
View Article and Find Full Text PDFA family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case.
Am J Med Genet A
August 2021
Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, Faculty of Life Sciences and Medicine, King's College London, London, UK.
Multicentric carpotarsal osteolysis (MCTO) is an autosomal dominant condition characterized by carpal-tarsal abnormalities; over half of affected individuals also develop renal disease. MCTO is caused by mutations of MAFB; however, there is no clear phenotype-genotype correlation. We describe the first reported family of variable MCTO phenotype due to mosaicism: the proband had classical skeletal features and renal involvement due to focal segmental glomerulosclerosis (FSGS), and the father had profound renal impairment due to FSGS, necessitating kidney transplantation.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!