Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia

Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3, and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic changes involved in the etiology of the remaining cases are still unknown, suggesting that other genes contribute to MED development. Our goal was to identify a mutation causing an autosomal dominant form of MED in a large multigenerational family. Initially, we excluded all genes known to be associated with autosomal dominant MED by using microsatellite and SNP markers. Follow‐up with whole‐exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co‐segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. One of the affected family members had a double‐layered patella, which is frequently seen in patients with autosomal recessive MED caused by DTDST mutations and sporadically in the dominant form of MED caused by COL9A2 defect.     

胸腔镜辅助下侧前路减压融合术治疗腰椎间盘突出症伴椎体后缘骨软骨病

目的探讨胸腔镜辅助下侧前路减压融合术治疗胸腰段或高位腰椎间盘突出症(lumbar disc herniation,LDH)伴椎体后缘骨软骨病(vertebral osteochondrosis,VO)的可行性及其临床效果。方法回顾性分析2017年12月至2019年12月采用胸腔镜辅助下侧前路减压融合术治疗胸腰段或高位LDH伴VO 10例患者的病历资料,男6例,女4例;年龄37~65岁,平均49.2岁。手术节段均为单节段,累及T₁₂L₁节段5例、L_1,2节段2例、L_2,3节段3例。4例患者为单纯胸腰段或高位LDH伴VO;6例患者合并黄韧带增生、骨化致椎管狭窄或后凸畸形,联合后路减压内固定术或矫形手术。主要观察指标为疼痛视觉模拟评分(visual analogue scale,VAS)、Oswestry功能障碍指数(Oswestry disability index,ODI)及椎间隙前、后缘高度,根据改良MacNab标准评估临床疗效。结果10例患者均顺利完成手术,术中在胸腔镜辅助下能清晰显露并彻底去除突出的椎间盘和骨化物,脊髓、神经根和硬膜囊得到充分减压。手术时间(115.4±23.8)min(范围70~180 min);术中失血量(122.6±21.3)ml(范围40~310 ml)。术后随访时间为12~36个月,平均21.6个月。末次随访时10例患者VAS评分由术前(7.2±1.9)分降至(1.8±1.1)分,ODI由术前64.3%±13.9%降至16.3%±5.1%,椎间隙前缘高度由术前(7.8±1.5)mm改善至(11.9±2.3)mm,椎间隙后缘高度由术前(4.5±1.1)mm改善至(7.4±1.6)mm,差异均有统计学意义(P<0.05)。末次随访时改良MacNab疗效评定为优9例、良1例。结论胸腔镜辅助下侧前路减压融合术治疗胸腰段或高位LDH伴VO,可提供清晰的手术视野,能够充分显露、彻底去除突出的椎间盘及骨化物,术后近期疗效满意。     

D-dimer for diagnosis of periprosthetic joint infection: A meta-analysis

BackgroundThe D-dimer test is easily available to detect periprosthetic joint infection (PJI). This study aimed to estimate the diagnostic accuracy of the D-dimer test in PJI diagnosis and identify possible independent factors affecting the diagnostic value of this test.MethodsMEDLINE and EMBASE databases identified literature until February 2020 that utilized the D-dimer test for PJI diagnosis. The pooled sensitivity, specificity, area under the curve (AUC), diagnostic odds ratio (DOR), positive likelihood ratio (PLR), and negative likelihood ratio (NLR) were calculated to evaluate the diagnostic accuracy of the D-dimer test. Meta-regression and subgroup analyses were performed to assess potential heterogeneity.ResultsThe databases identified 243 records, and eight studies were included in the final analysis. The pooled sensitivity and specificity of the D-dimer test for PJI diagnosis were 0.78 (95% confidence interval [CI], 0.69–0.84) and 0.74 (95% CI, 0.85–0.99), respectively. The AUCs and DORs of the D-dimer test were 0.83 (95% CI, 0.79–0.86) and 10 (95% CI, 4–24), respectively. The PLR and NLR of the D-dimer test for PJI detection were 3.0 (95% CI, 1.9–4.8) and 0.30 (95% CI, 0.20–0.47), respectively. The results of the meta-regression and subgroup analyses indicated that studies that excluded patients with hypercoagulation disorder had higher sensitivity (0.85 vs 0.86) and specificity (0.83 vs 0.62). The sensitivity of the D-dimer test also improved in studies that excluded patients with inflammatory arthritis (0.81 vs 0.75).ConclusionThe D-dimer test is a practical method for PJI diagnosis, especially in patients without history of hypercoagulation disorder and inflammatory arthritis.     

Validation and reliability of a Japanese version of the Shoulder Pain and Disability Index: A cross-sectional study

BackgroundThe Shoulder Pain and Disability Index (SPADI) is a simple disease specific questionnaire that is used to evaluate the impact of shoulder disorders. The purpose of this study was to translate the SPADI into Japanese (SPADI-Jp) and evaluate its reliability and validity in Japanese patients with shoulder disorders.MethodsCross-cultural adaptation of the SPADI was performed according to international guidelines. A total of 100 patients with shoulder disorders participated in this study. Each participant was asked to finish the SPADI-Jp, Disability of Arm, Shoulder and Hand (DASH), and the Short-Form 36 (SF-36) at the initial visit. Thirty-four patients repeated the SPADI-Jp to assess the test–retest reliability. The test–retest reliability was quantified using the interclass correlation coefficient (ICC), while Cronbach's alpha was calculated to assess the internal consistency. The construct validity was assessed using Spearman's rank correlation coefficients.ResultsInternal consistency in the SPADI-Jp was very high (0.969), as measured by the Cronbach's alpha. The ICC of the SPADI-Jp was 0.930. There was a strong, positive correlation between the DASH and the SPADI-Jp (r = 0.837, p < 0.001). The SPADI-Jp was significantly correlated with most of the SF-36 subscales. The correlations of the SPADI-Jp with physical subscales of the SF-36 were stronger than those with the other subscales.ConclusionsWe demonstrated that the SPADI-Jp is a reliable and valid self-assessment tool. Because cross-cultural adaptation, validation, and reliability of the disease-specific questionnaire for shoulder pain and disability have not been evaluated in Japan, the SPADI-Jp can be useful for evaluating such patients in the Japanese population.     

Characteristics affecting cervical sagittal alignment in patients with chronic low back pain

BackgroundSagittal spino-pelvic malalignment in patients with chronic low back pain (CLBP) have been reported in the past, which may also affect cervical spine lesions. The purpose of this study is to investigate the cervical alignment in patients with CLBP.MethodOf the patients who visited an orthopedic specialist due to low back pain lasting more than three months, 121 cases (average 71.5-years-old, 46 male and 75 female) with whole standing spinal screening radiographs were reviewed (CLBP group). Cervical parameters included cervical lordosis (CL), C2–C7 sagittal vertical axis (C2-7 SVA), and the T1 slope minus CL (T1S-CL). Cervical spine deformity was defined as C2-7 SVA >4 cm, CL <0°, or T1S-CL ≧20°. We compared the cervical alignment of these patients with 121 age and gender matched volunteers (control group).ResultsThe prevalence of cervical spine deformity was significantly higher in the CLBP group than in the control group (20.7% vs. 10.7%, P = 0.034). The mean CL was smaller in the CLBP group than in the control group (16.1° vs. 21.4°, P = 0.002). The mean C2-7 SVA was 17.6 mm vs. 18.7 mm in the CLBP group and in the control group, respectively (P = 0.817). The mean T1S-CL was larger in the CLBP group than in the control group (9.1° vs. 3.5°, P < 0.001). Multivariate analysis showed that people with CLBP were more likely to have cervical deformities than people without CLBP (odds ratio 2.16, 95% confidence interval 1.006 to 4.637).ConclusionsThis study results suggest that people with CLBP present with worse cervical sagittal alignment and higher prevalence of cervical spine deformities than age and gender matched volunteers with no CLBP. This means CLBP impacts cervical spine lesions negatively.Level of evidenceⅣ     

Histopathological explanation of the MRI target sign in extra-axial schwannomas

BackgroundTo better understand the nature of magnetic resonance imaging (MRI) findings in schwannomas, especially in the “target sign” of these findings, the histopathological investigation was performed.MethodsThe MRI findings were correlated with histopathological features in 22 samples of schwannomas, which were mostly resected from the extremities. The histopathological analyses included alcian blue staining and immunohistochemical staining for S-100 protein, proliferating cell nuclear antigen (PCNA) and epithelial membrane antigen (EMA).ResultsSeven of the 22 samples of schwannomas of the extremities exhibited target signs including a peripheral zone of homogeneously high signal intensity and a central zone of heterogeneous signal intensity in T2-weighted images. Gadolinium-enhanced T1–weighted images demonstrated a central heterogeneous enhancement and a peripheral ring of homogeneously low signal intensity. Histopathologically, S-100 and PCNA were positive only in the central heterogeneous signal area. In contrast, EMA was only stained on the degenerative epi/perineurium in the peripheral zone.ConclusionIn schwannomas of the extremities showing target sign in T2-weighted images, histopathologically, the peripheral areas were suggested to be mucinous degeneration of the epineurium or perineurium, while the central areas were composed of truly neoplastic cells.     

Conventional computed tomography software can be used for accurate pre-operative templating in bipolar hip arthroplasty: A preliminary report

BackgroundThe aim of this study was to investigate the use of pre-operative templating for bipolar hip arthroplasty (BHA) for displaced femoral neck fracture using multiplanar reconstruction (MPR) of computed tomography (CT) images.MethodsNineteen patients who underwent BHA were enrolled in this study. For pre- and post-operative evaluation, a CT scan was performed from the pelvis to the knee joints. MPR of the CT image was done using software to measure the femoral head cup diameter, offset, stem size, length of the modular neck, distance from the neck osteotomy, and femoral anteversion. We compared these parameters pre- and post-operatively.ResultsBoth the femoral head cup diameter and length of the modular neck were found to be significantly different between pre- and post-operative measurements, although the differences were minor. Other parameters, including the femoral offset, were not significantly different between the pre- and post-operative measurements. The size of the femoral stem, cup diameter, and length of the modular neck were consistent with the planned size and accurate (within ±1 size) in more than 84% cases.ConclusionOur pre-operative templating approach for BHA using MPR of CT has potential clinical utility as a complementary tool for pre-operative planning using three-dimensional templating software. Moreover, this technique could be feasible in most hospitals without additional expenditure.