scholarly journals Two GWAS-identified variants are associated with lumbar spinal stenosis and Gasdermin-C expression in Chinese population

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Hua Jiang ◽  
Abu Moro ◽  
Yang Liu ◽  
Jiaqi Wang ◽  
Dihua Meng ◽  
...  

AbstractThe aim of this study is to investigate the expression levels of genome-wide association studies (GWAS)-identified variants near Gasdermin-C (GSDMC) and its association with lumbar disc degeneration (LDD) in a Chinese population. In accordance with previously reported findings, our study involved the top 4 variants; rs6651255, rs7833174, rs4130415, and rs7816342. A total of 800 participants, 400 LDD patients and 400 controls were involved in the study. The LDD patients were divided into two mutually exclusive subgroups: subgroup 1: lumbar disc herniation; subgroup 2: lumbar spinal stenosis. Genotyping were performed using TaqMan assay, and Enzyme-Linked Immunosorbent Assay (ELISA) used to measure the plasma GSDMC levels, while quantitative reverse-transcription (qRT)-PCR and immunohistochemistry (IHC) were used to evaluate the GSDMC expression levels. Among the studied variants, there were no statistically significant differences in allelic and genotypic frequencies between LDD patients and their controls (all P > 0.05). However, the subgroup analysis revealed a significant association between rs6651255 and rs7833174 in patients with lumbar spinal stenosis (subgroup 2). Furthermore, the max-statistic test revealed that the inheritance models of two variants of lumbar spinal stenosis were represented by the recessive model. The plasma and mRNA expression levels of GSDMC were significantly higher in patients with lumbar spinal stenosis compared with the control group (P < 0.05). Furthermore, the CC genotypes of rs6651255 and rs7833174 were significantly associated with increased plasma expression levels of GSDMC in patients with lumbar spinal stenosis (P < 0.01). Two GWAS-identified variants (rs6651255 and rs7833174) near GSDMC were associated with a predisposition to lumbar spinal stenosis. GSDMC protein and mRNA expression levels may have prognostic qualities as biomarkers for the existence, occurrence or development of lumbar spinal stenosis.

2016 ◽  
Vol 24 (4) ◽  
pp. 592-601 ◽  
Author(s):  
Shota Takenaka ◽  
Kosuke Tateishi ◽  
Noboru Hosono ◽  
Yoshihiro Mukai ◽  
Takeshi Fuji

OBJECT In this study, the authors aimed to identify specific risk factors for postdecompression lumbar disc herniation (PDLDH) in patients who have not undergone discectomy and/or fusion. METHODS Between 2007 and 2012, 493 patients with lumbar spinal stenosis underwent bilateral partial laminectomy without discectomy and/or fusion in a single hospital. Eighteen patients (herniation group [H group]: 15 men, 3 women; mean age 65.1 years) developed acute sciatica as a result of PDLDH within 2 years after surgery. Ninety patients who did not develop postoperative acute sciatica were selected as a control group (C group: 75 men, 15 women; mean age 65.4 years). Patients in the C group were age and sex matched with those in the H group. The patients in the groups were also matched for decompression level, number of decompression levels, and surgery date. The radiographic variables measured included percentage of slippage, intervertebral angle, range of motion, lumbar lordosis, disc height, facet angle, extent of facet removal, facet degeneration, disc degeneration, and vertebral endplate degeneration. The threshold for PDLDH risk factors was evaluated using a continuous numerical variable and receiver operating characteristic curve analysis. The area under the curve was used to determine the diagnostic performance, and values greater than 0.75 were considered to represent good performance. RESULTS Multivariate analysis revealed that preoperative retrolisthesis during extension was the sole significant independent risk factor for PDLDH. The area under the curve for preoperative retrolisthesis during extension was 0.849; the cutoff value was estimated to be a retrolisthesis of 7.2% during extension. CONCLUSIONS The authors observed that bilateral partial laminectomy, performed along with the removal of the posterior support ligament, may not be suitable for lumbar spinal stenosis patients with preoperative retrolisthesis greater than 7.2% during extension.


2022 ◽  
Vol 50 (1) ◽  
pp. 030006052110694
Author(s):  
In-Hwa Baek ◽  
Hyung-Youl Park ◽  
Ho-Young Jung ◽  
Jun-Seok Lee

Polymyositis is a subgroup of idiopathic inflammatory myopathies characterized by symmetric proximal limb weakness and chronic skeletal muscle inflammation. We herein report the first case of bilateral leg pain and unilateral calf atrophy caused by polymyositis accompanying lumbar spinal stenosis and disc herniation. A 52-year-old man presented with intermittent claudication and calf pain that had become gradually aggravated during the last 3 months. Magnetic resonance imaging showed spinal stenosis at the L3/4 and L4/5 levels and lumbar disc herniation at the L4/5 level. Preoperative laboratory investigations revealed elevated muscle enzyme concentrations. Magnetic resonance imaging also showed atrophy, fatty degeneration, and edema in both calf muscles. Histological examination showed inflammatory myositis and fibrosis in the perifascicular connective tissues. The patient was diagnosed with polymyositis. We performed decompressive laminectomy at the L3/4 and L4/5 levels and discectomy at the L4/5 level. After administration of prednisolone for 6 months and methotrexate for 3 months, the patient’s bilateral calf pain and abnormal laboratory findings improved. The combination of surgical decompression and adequate medical treatment resulted in a successful recovery. Polymyositis should be suspected in patients with lumbar spinal stenosis or lumbar disc herniation who exhibit increased muscle enzyme concentrations or lower extremity muscle atrophy.


2013 ◽  
Vol 20 (3) ◽  
pp. 261-266
Author(s):  
Danil Adam ◽  
Ioana Hornea

Abstract Cauda equina syndrome produced by the herniated lumbar intervertebral disc is a rare disorder that, if is undiagnosed and untreated in time, can have serious consequences for the patient and medicolegal implications for the surgeon. We report the clinical evolution of 3 patients with lumbar spinal stenosis who still present sphincterian and sexual dysfunctions many years after surgery, even if they were operated on immediately after admission. Reviewing the literature on this subject has allowed us to emphasize symptomes, pathophysiological mechanism and management regarding patients with lumbar spinal stenosis. The surgical decompression is indicated as soon as possible. The surgical decompression within 48 hours from onset allows maximum improvement of symptoms and absolves the surgeon of any medico-legal liability


2021 ◽  
Author(s):  
Qihui Cheng ◽  
Ganghui Yin ◽  
Minjun Huang ◽  
Haojie Mi ◽  
Junwei Guan ◽  
...  

Abstract Background Purpose This retrospective study was applied to investigate the morphology characteristics of the spine and pelvis in patients with congenital spinal stenosis, to explore the effect of morphological parameters in the pathogenesis and development of the disease.Methods The analysis is based on data of a case-control study, including 40 patients (19 females/21 males) with congenital lumbar spinal stenosis, 40 patients (17females/23males) with age-、Sex- and the waist and leg pain score-matched acquired lumbar spinal stenosis and 40 age-、Sex-matched normal volunteers(controls). Lumbar MRI, lumbar computerized tomography(CT)and full-length radiographs were used to obtain sagittal and cross-sectional parameters. Parameters including pelvic incidence(PI), sacral slope (SS), pelvic tilt (PT), lumbar lordosis (LL), sagittal vertical axis(SVA), and thoracic kyphosis(TK)on the sagittal plane were measured on full-length radiographs and analyzed. The anteroposterior (AP) bone canal diameter and spinal canal area of L4 were collected and analyzed on Lumbar CT. Lumbar MRI was taken to evaluate the angle of the ligamentum flavum at the level of L4/5 intervertebral space,and the Lumbar disc degeneration degree was calculated.Results Total scores for lumbar disc degeneration and the angle of the ligamentum flavum were significantly lower in the congenital group than in the acquired group(P= 0.02 and P= 0.012,respectively ; P<0.05). The differences of LL, PT, SVA and TK values were statistically significant , while the differences of SS and PI were not significant among the acquired, congenital, and control groups. TK values were significantly lower in the congenital group than in the acquired and control groups(P=0.024 and P=0.006,respectively; P<0.05). Patients in the congenital and acquired groups had significantly lower LL values than patients in the control group (p = 0.000 and 0.041, respectively; P<0.05). The mean value of LL was 30.31°±13.42° in the congenital group, while 41.10°±12.51° in the acquired group. And the difference of LL between these two groups was statistically significant(p=0.000<0.05). The SVA values of the congenital group, acquired group, and control group increased respectively(all P<0.05). The PT in the congenital group showed significantly lower values than the acquired group (p = 0.041<0.05). There is no statistically significant difference in other parameters.The correlations between LL and PI are well in the congenital group(r=0.336;P=0.034), acquired group(r=0.464;P=0.003) and control group(r=0.584;P=0.000). However, the trend line of LL/PI in the acquired group was drawn below the control population. Also, the trend line of LL/PI in the congenital group was below the waist and leg pain score-matched acquired group with lower lumbar degeneration.Conclusion In addition to bony structural stenosis, the smaller angle of the ligamentum flavum may be an anatomical factor that causes the smaller effective area of the spinal canal in patients with congenital lumbar spinal stenosis. Patients with congenital lumbar spinal stenosis show a significant reduction in the physiological curvature of the thoracic and lumbar spine, and the trunk leans forward. In addition to intervertebral disc degeneration and pain factors, bony spinal stenosis is also a possible factor leading to smaller LL in patients with congenital lumbar spinal stenosis. LL less than 41° can be used as the initial screening standard for congenital lumbar spinal stenosis among patients with lumbar spinal stenosis.


1990 ◽  
Vol 39 (2) ◽  
pp. 454-458
Author(s):  
Tatsuhiko Hemmi ◽  
Hisao Endo ◽  
Masami Takahashi ◽  
Tadanori Ogata ◽  
Tadanori Sakamaki

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