Juvenile idiopathic arthritis (JIA) is an autoimmune disease that has been proposed to involve the temporomandibular joint (TMJ). The aim of this study was to identify the relationships between JIA, TMJ disorders, and craniofacial deformities. This cohort study included patients diagnosed with clinically active JIA between 1999 and 2013 through a nationwide longitudinal health registry. The primary outcome was the presence of a TMJ disorder. The secondary outcome was the presence of a JIA-associated craniofacial deformity. A total of 2791 patients with JIA were included in the case group; 11,164 propensity score-matched individuals without JIA were selected from the same database as controls. TMJ disorders were present in 142 individuals: 48 (1.72%) in the case group and 94 (0.84%) in the control group (relative risk 2.047, 95% confidence interval 1.446-2.898). Craniofacial deformities were present in 374 individuals: 112 (4.01%) in the case group and 262 (2.35%) in the control group (relative risk 1.722, 95% confidence interval 1.380-2.148). Patients with JIA showed a significantly greater likelihood of developing TMJ disorders and craniofacial deformities compared to matched controls.
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http://dx.doi.org/10.1016/j.ijom.2022.04.007 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology, Shenzhen 518055, China.
Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.
View Article and Find Full Text PDFBMC Oral Health
January 2025
Laboratory for Oral Molecular Biology, Department of Orthodontics and Dentofacial Orthopedics, University of Bern, Freiburgstrasse 3, Bern, 3010, Switzerland.
Background: Epidemiologic data on the number of cleft lip and/or palate (orofacial cleft (OFC)) births in Switzerland are currently sparse. However, this knowledge is essential for better understanding the etiologies underlying the various cleft phenotypes and providing expectant parents with the best possible healthcare planning and counseling.
Methods: This is the first descriptive study to report data on the prevalence of the various cleft types, their sex, and regional distributions in Switzerland.
Nat Commun
January 2025
State Key Laboratory Cultivation Base of Research, Prevention and Treatment for Oral Diseases, Nanjing Medical University, Nanjing, China.
Little is known about the regulation and function of phase separation in craniofacial developmental disorders. MSX1 mutations are associated with human cleft palate, the most common craniofacial birth defect. Here, we show that MSX1 phase separation is a vertebrate-conserved mechanism underlying embryonic palatal fusion.
View Article and Find Full Text PDFRev Paul Pediatr
January 2025
Universidade Estadual do Oeste do Paraná, Cascavel, PR, Brazil.
Objective: The aim of this study was to report the case of a child with Jacobsen syndrome in order to provide phenotypic information about this rare genetic disorder.
Case Description: A 5-year-old female preschooler was diagnosed with Jacobsen syndrome by karyotype testing. She presented with a variety of craniofacial anomalies and malformations, including cardiac impairment, characterized by a cluster of malformations in the left ventricle in line with the diagnosis of Shone's complex.
Matern Child Health J
January 2025
Department of Pediatric Dentistry, University of Texas Health Science Center at Houston, School of Dentistry, 7500 Cambridge St. | Suite 5306, Houston, TX, 77054, USA.
Objective: The study aimed to evaluate the quality of life (QoL) of caregivers of children diagnosed with CZS and to assess the association of findings with socioeconomic and CZS-associated variables.
Methods: This was a cross-sectional, quantitative study, carried out over three days of multidisciplinary care for patients with CZS. Sixty-four participants underwent a quality of life assessment using the World Health Organization Quality of Life questionnaire (WHOQOL-BREF) in Portuguese.
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