Pilot Case Control Study of Postural Sway and Balance Performance in Aging Adults with Degenerative Lumbar Spinal Stenosis

Objectives This study aimed to determine the prevalence of diabetes mellitus in patients with spinal stenosis and lumbar vertebral disk degeneration, and the correlation of diabetes with these diseases. Study Design This is a cross-sectional study. Methods This case–control study was performed during 2012–2014 with 110 patients suffering from lumbar spinal stenosis and 110 patients with lumbar disk herniation, who were diagnosed using clinical and radiological evidences. Additionally, 110 participants who were referred to the clinic and did not show clinical signs of degenerative diseases of the lumbar spine entered the study as a control group. Demographic data and medical histories of the patients were collected using checklists. Results A total of 50 patients (15.2%) were diagnosed with diabetes, which comprised 32 (29.1%) in the stenosis group, 7 (6.4%) in the lumbar disk herniation group, and 11 (10%) in the control group. The prevalence of diabetes in women with spinal stenosis and women with lumbar disk herniation was 35.9% and 10.3%, respectively, whereas prevalence of diabetes in women was 10.9% in the control group. This difference was statistically significant in the spinal stenosis group in comparison with the controls ( P < 0.0001). Conversely, no significant difference was found in men. Conclusions There is an association between diabetes and lumbar spinal stenosis. Diabetes mellitus may be a predisposing factor for the development of lumbar spinal stenosis.

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The identification of novel gene mutations for degenerative lumbar spinal stenosis using whole-exome sequencing in a Chinese cohort

BMC Medical Genomics ◽

10.1186/s12920-021-00981-4 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Xin Jiang ◽

Dong Chen

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Spinal Stenosis ◽

Lumbar Spinal Stenosis ◽

Gene Mutations ◽

Specific Gene ◽

Single Nucleotide ◽

Degenerative Lumbar Spinal Stenosis ◽

Whole Exome ◽

Lumbar Spinal

Abstract Background Degenerative lumbar spinal stenosis (DLSS) is a common lumbar disease that requires surgery. Previous studies have indicated that genetic mutations are implicated in DLSS. However, studies on specific gene mutations are scarce. Whole-exome sequencing (WES) is a valuable research tool that identifies disease-causing genes and could become an effective strategy to investigate DLSS pathogenesis. Methods From January 2016 to December 2017, we recruited 50 unrelated patients with symptoms consistent with DLSS and 25 unrelated healthy controls. We conducted WES and exome data analysis to identify susceptible genes. Allele mutations firstly identified potential DLSS variants in controls to the patients’ group. We conducted a site-based association analysis to identify pathogenic variants using PolyPhen2, SIFT, Mutation Taster, Combined Annotation Dependent Depletion, and Phenolyzer algorithms. Potential variants were further confirmed using manual curation and validated using Sanger sequencing. Results In this cohort, the major classification variant was missense_mutation, the major variant type was single nucleotide polymorphism (SNP), and the major single nucleotide variation was C > T. Multiple SNPs in 34 genes were identified when filtered allele mutations in controls to retain only patient mutations. Pathway enrichment analyses revealed that mutated genes were mainly enriched for immune response-related signaling pathways. Using the Novegene database, site-based associations revealed several novel variants, including HLA-DRB1, PARK2, ACTR8, AOAH, BCORL1, MKRN2, NRG4, NUP205 genes, etc., were DLSS related. Conclusions Our study revealed that deleterious mutations in several genes might contribute to DLSS etiology. By screening and confirming susceptibility genes using WES, we provided more information on disease pathogenesis. Further WES studies incorporating larger DLSS patient cohorts are required to comprehend the genetic landscape of DLSS pathophysiology fully.

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