Purpose: Intervertebral disc degeneration (IDD) is a common degenerative disease associated with ageing. Additionally, IDD is recognized as one of the leading causes of low back pain and disability in the working-age population and is the first step in the process leading to degenerative spinal changes. However, the genetic factors and regulatory mechanisms of IDD remain unknown. Therefore, we selected eight single nucleotide polymorphisms of genes to reveal the progression of IDD in a 7-year longitudinal study of the general population in Japan.
Methods: IDD was evaluated in the Wakayama Spine Study (WSS), which is a population-based cohort study. Overall, 574 participants from the general population cohort who underwent whole spine magnetic resonance imaging and provided clinical information were included in this longitudinal survey.
Results: The progression of IDD was affected only by THBS2 at the lumbar region, T12-L1 (p = 0.0044) and L3-4 (p = 0.0045). The significant interaction between THBS2 and age with IDD negatively affected the thoracic spines and passively influenced both the thoracolumbar junction and thoracic spines. The higher progression per year of Pfirrmann's score was rapid in young people with age; however, this decelerated the IDD progression per year in different ages.
Conclusion: Our longitudinal study found the genes associated with IDD progression and that genetic factors' impact on IDD differs depending on disc level and age.
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http://dx.doi.org/10.1007/s00586-024-08152-6 | DOI Listing |
Res Dev Disabil
January 2025
Institute for Community Inclusion (INICO), Spain; University of Salamanca, Spain.
Background: The number of people with intellectual and developmental disabilities (IDD) living in residential settings has not changed substantially in recent years in Spain. To change this situation the project "My House: A Life in the Community" aims to promote the transition of individuals with IDD and high support needs into community settings.
Aims: This paper deepens the understanding of the underlying mechanisms responsible for the changes observed in the process of deinstitutionalization.
Am J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFFoods
December 2024
Instituto de Ciencias de la Vid y del Vino (ICVV) (Universidad de La Rioja, Consejo Superior de Investigaciones Científicas (CSIC), Gobierno de La Rioja), 26007 Logroño, Spain.
The objectives of this study were to obtain and characterise polyphenolic extracts from red grape pomace of L. cv Graciano via conventional solvent extraction (SE) and green supercritical fluid extraction (SFE) and to evaluate their antibacterial activity against susceptible and multidrug-resistant strains of intestinal origin. The SE and SFE methods were optimised, and ultra-performance liquid chromatography/mass spectrometry (UPLC/QqQ-MS/MS) analysis revealed 38 phenolic compounds in the SE sample, with anthocyanins being the predominant polyphenols, and 21 phenolic compounds in the SFE samples, among which hydroxybenzoic acids and flavonols were the predominant compounds.
View Article and Find Full Text PDFJOR Spine
March 2025
The Fifth Affiliated Hospital Shanxi Medical University Taiyuan People's Republic of China.
Background: Several matrix metalloproteinases (MMPs) have been reported to be associated with intervertebral disc degeneration (IDD) in several previous studies. However, the causal relationship between MMPs and IDD remains unclear. In this study, Mendelian randomization (MR) was used to analyze the causal relationship between the plasma levels of multiple MMPs and the risk of IDD.
View Article and Find Full Text PDFCancer Med
January 2025
Department of Public Health Sciences, Queen's University, Kingston, Ontario, Canada.
Background: Adults with intellectual or developmental disability (IDD) are at higher risk for incomplete cancer staging.
Aim: To compare unknown stage data between those with and without IDD.
Materials And Methods: We used the Ontario Cancer Registry linked to administrative health data between 2007 and 2019.
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