A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.
Ontology highlight
ABSTRACT:
SUBMITTER: Jiang L
PROVIDER: S-EPMC10762954 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
Publications
A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation.
Jiang Lejian L Wang Chenhuan C Ye Zhaoming Z Hu Qingfeng Q
Journal of orthopaedic surgery and research 20240103 1
Trp3 allele in COL9A3 gene has been widely studied in populations with intervertebral disc disease. We identified a novel pathogenic variant in COL9A3 gene in a pedigree with multiple lumbar disc herniation (LDH). The proband was a 14-year-old boy who developed LDH at the L4/5 and L5/S1 spinal segments. His father, paternal aunt and grandfather were diagnosed with LDH at an age of 35, 30 and 23, respectively. By applying whole exome sequencing, a heterozygous missense variant (c.1150C > T, p.Arg ...[more]
Similar Datasets
Project description: Not available
| S-EPMC6583408 | biostudies-literature
Project description:Lumbar disc herniation (LDH) is common and often debilitating. Microdiscectomy of herniated lumbar discs (LDHsurg) is performed on the most severe cases to resolve the resulting sciatica. Here we perform a genome-wide association study on 4,748 LDHsurg cases and 282,590 population controls and discover 37 highly correlated markers associating with LDHsurg at 8q24.21 (between CCDC26 and GSDMC), represented by rs6651255[C] (OR=0.81; P=5.6 × 10-12) with a stronger effect among younger patients than older. As rs6651255[C] also associates with height, we performed a Mendelian randomization analysis using height polygenic risk scores as instruments to estimate the effect of height on LDHsurg risk, and found that the marker's association with LDHsurg is much greater than predicted by its effect on height. In light of presented findings, we speculate that the effect of rs6651255 on LDHsurg is driven by susceptibility to developing severe and persistent sciatica upon LDH.
| S-EPMC5322534 | biostudies-literature
Project description:A retrospective analysis of 30 operated cases of prolapsed lumbar disc with cauda equina syndrome was carried out. 27 were male and 3 were female. Age varied from 27 to 60 years. 10 were acute presentation and 20 had previous history of backache-sciatica syndrome. The most common sphincter dysfunction was urinary retention and other neurological findings, pointing to sphincter involvement were impairment of sensation in the perineum, lax anal sphincter and absent superficial anal reflex. The other motor or sensory deficit depended on level of disc herniation. The majority of our patients reached us between 7-14 days after onset of sphincter dysfunction. Emergency myelogram was the most common investigation done and L 4/5 was most common disc herniation. Emergency surgery was done in 24 cases and semi emergency in 6 cases. Patients were followed up and at 1 year follow-up 12 had recovered fully, 7 partially and in rest 11 patients there was no significant improvement in sphincter functions.
| S-EPMC5531999 | biostudies-other
Project description:BackgroundLumbar disc herniation (LDH) is a common musculoskeletal disorder affliction and associated with several genes polymorphism. Storkhead box 1 (STOX1) gene is a transcriptional factor related with several signaling pathways including inflammatory pathway. However, little is known about single-nucleotide polymorphisms (SNPs) of STOX1 associated with LDH risk.MethodsWe conducted a case-control study among 508 LDH cases and well-matched 508 controls, and six candidate SNPs in STOX1 were genotyped by Agena MassARRAY. Chi-squared test, genetic model, and haploview analysis were used to evaluate associations. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by unconditional logistic regression.ResultsIn the allelic model analysis, we found the minor allele "T" of rs7903209 and "A" of rs4472827 were associated with an increased risk of LDH (p = .029, p = .016). Furthermore, in the genotype model analysis, rs7903209 polymorphism was associated with the increased susceptibility of LDH based on dominant (p = .033) and additive model (p = .024); and rs4472827 variant was found to play a harmful role in the LDH risk based on genotype (p = .014), dominant (p = .012), and additive model (p = .015). In the haplotype analysis, the haplotype "GT" in block (rs10998461 and rs10998468) decreased LDH risk (OR = 0.7, 95% CI = 0.52-0.93, p = .016). Functional assessment indicated that rs7903209 and rs4472827 polymorphisms may influence the expression of STOX1.ConclusionOur results provide evidence for polymorphisms of rs7903209 and rs4472827 in STOX1 associated with LDH risk in Chinese Han population.
| S-EPMC6978251 | biostudies-literature
Project description:Study designSecondary analysis of data from a concurrent randomized trial and cohort study.ObjectiveThe aim of this study was to determine risks and predictors of recurrent pain following standard open discectomy for subacute/chronic symptomatic lumbar disc herniation (SLDH).Summary of background dataMost previous studies of recurrence after discectomy do not explicitly define pain resolution and recurrence, and do not account for variable durations of time at risk for recurrence.MethodsWe used survival analysis methods to examine predictors of leg pain recurrence. For individuals with initial resolution of leg pain, we defined recurrent leg pain as having leg pain, receiving lumbar epidural steroid injections, or undergoing lumbar surgery subsequent to initial leg pain resolution. We calculated cumulative risks of leg pain recurrence using Kaplan-Meier survival curves, and examined predictors of recurrence using Cox proportional hazards models. We used similar methods to examine LBP recurrence.ResultsOne- and three-year cumulative risks of leg pain recurrence were 20% and 45%, respectively. One- and three- year leg pain recurrence risks were substantially lower in participants with complete initial resolution of leg pain (17% and 41%, respectively) than in those without (27% and 54%, respectively). In multivariate analyses, complete leg pain resolution (adjusted hazard ratio [aHR] 0.69; 95% confidence interval [CI] 0.52-0.90), smoking (aHR 1.68 [95% CI 1.22-2.33]), and depression (aHR 1.74 [95% CI 1.18-2.56]) predicted leg pain recurrence. The 1- and 3-year risk of LBP recurrence was 29% and 65%, respectively. LBP recurrence risk at 3 years was substantially lower in participants with complete initial resolution of LBP than in those without, but not at 1 year.ConclusionRecurrence of leg pain and LBP is common after discectomy for SLDH. Cumulative risks of both leg pain and LBP recurrence were generally lower in participants achieving complete initial resolution of pain post-discectomy.Level of evidence2.
| S-EPMC5332353 | biostudies-literature
Project description:BACKGROUND:This study was performed to investigate the association between lumbar disc herniation (LDH) and facet joint osteoarthritis (FJOA) using magnetic resonance imaging (MRI). METHODS:Between March 2012 and September 2018, a total of 441 segments from 394 patients with LDH were included in the study. LDH was classified according to the Michigan State University (MSU) classification, in which the degree of LDH is divided into 3 levels (expressed as 1, 2, and 3) and the location of LDH is divided into 4 zones (described as A, AB, B, and C). Bilateral FJOA was graded from 0 to 3 using the criteria introduced by Weishaupt et al., and bilateral facet orientations were measured on axial MRI slices. A mixed-effects ordinal logistic regression model was utilized to determine the potential factors that may be associated with FJOA, including sex, age, body mass index (BMI), segment, facet orientation and tropism, and the degree and location of LDH. RESULTS:In general, the prevalence of FJOA (grade ≥ 2) was 66.2% in LDH segments. For both the left and right sides, the degree of LDH was associated with the severity of FJOA (p < 0.01). Age and BMI were also associated with the severity of left and right FJOA (p = 0.002 and p < 0.001 for age, p < 0.001 and p = 0.003 for BMI, respectively), while segment, facet orientation, and facet tropism were not (p > 0.05 for all). Notably, MSU-B LDH was associated with greater odds of having more severe FJOA on the herniation side (left: p < 0.001, odds ratio (OR) = 2.714, 95% confidence interval (CI) = 1.583~4.650; right: p = 0.003, OR = 2.615, 95% CI = 1.405~4.870). However, other locations of LDH were not associated with the severity of FJOA (p > 0.05 for all). CONCLUSIONS:Both the degree of LDH and MSU-B LDH are associated with the severity of FJOA. The association between LDH and FJOA highlights the complexity of the etiology of FJOA.
| S-EPMC6990568 | biostudies-literature
Project description:BackgroundPainful lumbar radiculopathy is a neuropathic pain condition, commonly attributed to nerve root inflammation/compression by disc herniation. The present exploratory study searched for associations between pain intensity and inflammatory markers, herniated disc size, infection, psychological factors and pain modulation in patients with confirmed painful lumbar radiculopathy scheduled for spine surgery.MethodsPrior to surgery, 53 patients underwent the following evaluation: pain intensity measured on a 0-10 numeric rating scale (NRS) and the Short-Form McGill Pain Questionnaire; sensory testing (modified DFNS protocol); pain processing including temporal summation and conditioned pain modulation (CPM); neurological examination; psychological assessment including Spielberger's Anxiety Inventory, Pain Sensitivity Questionnaire and the Pain Catastrophizing Scale. Pro-inflammatory cytokine levels (IL-1b, IL-6, IL-8, IL-17, TNFα, IFNg) and microbial infection (ELISA and rt-PCR) in blood and disc samples obtained during surgery. MRI scans assessments for disc herniation size/volume (MSU classification/ three-dimensional volumetric analysis).ResultsComplete data were available from 40 (75%) patients (15 female) aged 44.8 ± 16.3 years. Pain intensity (NRS) positively correlated with pain catastrophizing and CPM (r = 0.437, p = 0.006; r = 0.421, p = 0.007; respectively), but not with disc/blood cytokine levels, bacterial infection or MRI measures. CPM (p = 0.001) and gender (p = 0.029) were associated with average pain intensity (adjusted R2 = 0.443).ConclusionsThis exploratory study suggests that pain catastrophizing, CPM and gender, seem to contribute to pain intensity in patients with painful lumbar radiculopathy. The role of mechanical compression and inflammation in determining the intensity of painful radiculopathy remains obscure.Significance of studyPain catastrophizing, CPM and gender rather than objective measures of inflammation and imaging seem to contribute to pain in patients with painful radiculopathy.
| S-EPMC10083974 | biostudies-literature
Project description:Background and study aimsMultiple surgical approaches have been studied and accepted for the removal of highly downward migrated lumbar disc herniation (LDH). Here, we investigated the efficacy and safety of full-endoscopic foraminoplasty for highly downward migrated LDH.Patients and methodsThirty-seven patients with highly down-migrated LDH treated by the full-endoscopic foraminoplasty between January 2018 and January 2020 were retrospectively investigated. Clinical parameters were evaluated preoperatively and 1, 6, and 12 months postoperatively, using pre- and post-operative Oswestry Disability Index (ODI) scores for functional improvement, visual analog scale (VAS) for leg and back pain, and modified MacNab criteria for patients satisfactory.ResultsThirty-seven patients with highly downward migrated LDH were successfully removed via the transforaminal full-endoscopic discectomy. The average VAS back and leg pain scores were significantly reduced from 7.41 ± 1.17 and 8.68 ± 1.06 before operation to 3.14 ± 0.89 and 2.70 ± 0.46 at postoperative 1 month, and 1.76 ± 0.59 and 0.92 ± 0.28 at postoperative 12 months, respectively (P < 0.05). The average ODI scores were reduced from 92.86 ± 6.41 to 15.30 ± 4.43 at postoperative 1 month, and 9.81 ± 3.24 at postoperative 12 months (P < 0.05). Based on the modifed MacNab criteria, 36 out of 37 patients (97.30%) were rated as excellent or good outcomes.ConclusionThe full-endoscopic foraminoplasty can be used successfully for surgical removal of high grade down-migrated LDH, and it could serve as an efficient alternative technique for patients with highly downward migrated LDH.
| S-EPMC8966215 | biostudies-literature
Project description:This study aimed to evaluate and compare the clinical effectiveness of two surgical techniques-unilateral biportal endoscopic (UBE) discectomy and percutaneous interlaminar endoscopic lumbar discectomy (IELD)-in addressing high-grade down-migrated lumbar disc herniation (HDM-LDH). A retrospective analysis was conducted on 39 patients with HDM-LDH who underwent surgical treatment between January 2020 and February 2023. This cohort included 18 patients in the UBE group and 21 patients in the IELD group. The two endoscopic techniques were compared based on operative time, intraoperative blood loss, hemoglobin decrease, C-reactive protein levels, and length of hospital stay. Efficacy was evaluated using the visual analog scale (VAS), Oswestry disability index (ODI), and modified MacNab criteria. The IELD group exhibited a shorter operative duration and reduced length of hospital stay, as well as diminished intraoperative blood loss compared to the UBE group (P < 0.05). No statistically significant differences were observed in the reduction of hemoglobin levels or the increase in C-reactive protein between the two groups (P > 0.05). Postoperatively, both groups experienced significant decreases in VAS scores and ODI scores relative to preoperative values. One day post-surgery, the VAS score for low back pain was higher in the UBE group than in the IELD group, with the difference being statistically significant (P < 0.05). However, no significant differences were found in the VAS scores for lower limb pain at any time point, nor in the ODI scores one day, one month, and three months post-surgery (P > 0.05). At the final follow-up, patient satisfaction rates were 94.44% in the UBE group and 95.24% in the IELD group, with no statistically significant difference (P > 0.05). One patient in the IELD group developed neurological symptoms following surgery. Both UBE and IELD demonstrate significant clinical efficacy in the treatment of HDM-LDH. The IELD technique is characterized by its minimally invasive nature, whereas UBE offers greater flexibility and a notably enhanced decompression effect. Clinicians are advised to select the appropriate technique based on individual patient conditions and specific clinical scenarios.
| S-EPMC11914065 | biostudies-literature
Project description:BACKGROUND:The aim of this study was to evaluate satisfaction and factors associated with satisfaction in elderly undergoing lumbar disc herniation surgery. METHODS:In the national Swedish register for spinal surgery (SweSpine) we identified 2095 patients aged > 65 years (WHO definition of elderly) whom during 2000-2016 had undergone LDH surgery and had pre- and one-year postoperative data (age, gender, preoperative duration and degree of back- and leg pain, quality of life (SF-36) and one-year satisfaction (dissatisfied, uncertain, satisfied). We utilized a logistic regression model to examine preoperative factors that were independently associated with low and high satisfaction and after LDH surgery. RESULTS:One year after surgery, 71% of the patients were satisfied, 18% uncertain and 11% dissatisfied. Patients who were satisfied were in comparison to others, younger, had shorter preoperative duration of leg pain, higher SF-36 mental component summary and more leg than back pain (all p < 0.01). Patients who were dissatisfied were compared to others older, had longer preoperative duration of leg pain and lower SF-36 scores (all p < 0.01). 81% of patients with leg pain up to 3 months were satisfied in comparison with 57% of patients with leg pain > 2 years (p < 0.001). CONCLUSION:Only one out of ten elderly, is dissatisfied with the outcome of LDH surgery. Age, preoperative duration of leg pain, preoperative SF 36 score, and for satisfaction also dominance of back over leg pain, are in elderly factors associated to good and poor subjective outcome after LDH surgery.
| S-EPMC6902341 | biostudies-literature