Chondromatosis, Synovial

软骨瘤病,滑膜
  • 文章类型: Journal Article
    髋关节滑膜软骨瘤病推荐关节镜治疗。然而,有关长期临床结局的证据有限.
    为了评估患者报告的长期结局(PRO)和生存率,并确定残余松散体的潜在影响,通过术后即刻计算机断层扫描(CT)评估,关于临床结果。
    案例系列;证据级别,4.
    在2010年3月至2015年5月期间接受关节镜治疗并被诊断为滑膜软骨瘤病的连续队列患者被纳入研究。术前射线照相,CT,并进行磁共振成像。术前,中期(至少4年),并收集长期(至少8年)的PRO用于疼痛的视觉模拟量表,改良哈里斯髋关节评分(mHHS),非关节炎髋关节评分(NAHS),和12项国际髋关节结果工具(iHOT-12)。计算实现最小临床重要差异(MCID)的百分比。在术后立即进行CT扫描时,比较了有和没有残留松散身体的患者的PROs和生存率。
    共有28名患者(20%的患者失去了随访)被纳入研究,平均随访期为104.9个月(范围,96-139个月)。PROs包括疼痛的视觉模拟量表(术前,3.8±1.2;中期,0.9±1.7;长期,0.8±1.4),mHHS(术前,66.4±14.4;中期,92.8±12.3;长期,93.5±10.5),NAHS(术前,45.2±16.2;中期,81.8±15.3;长期,83.1±12.9),和iHOT-12(术前,48.4±15.6;中期,69.3±11.7;长期,72.7±11.4)在中期和长期随访中均有所改善(均P<.001)。总的来说,27(96.4%),28(100%),26例(92.9%)患者获得mHHS的MCID,NAHS和iHOT-12,分别在长期随访中。在中期和长期随访之间,任何PRO和实现MCID的比率均无显著差异(均P>0.05)。1例患者(3.6%)接受了翻修手术。在23例在术前CT或X线片上有松散身体的患者中,14例患者(60.9%)在术后即刻CT上显示出明显的残余松散体,其NAHS(P=.045)和iHOT-12(P=.037)评分较低,但长期生存率(P>.05)与没有松散体的患者相比。
    关节镜治疗髋关节滑膜软骨瘤病取得了满意的长期临床疗效和较强的生存率。大多数患者在中期和长期随访之间维持或改善了他们的整体功能状态。此外,残留有松散身体的患者临床结局较差,尽管生存率相当。
    UNASSIGNED: Arthroscopic treatment is recommended for hip synovial chondromatosis. However, evidence regarding long-term clinical outcomes is limited.
    UNASSIGNED: To evaluate long-term patient-reported outcomes (PROs) and survival, and to determine the potential effect of residual loose bodies, as evaluated by immediate postoperative computed tomography (CT), on clinical outcomes.
    UNASSIGNED: Case series; Level of evidence, 4.
    UNASSIGNED: A consecutive cohort of patients undergoing arthroscopic treatment and diagnosed with synovial chondromatosis between March 2010 and May 2015 were included in the study. Preoperative radiography, CT, and magnetic resonance imaging were performed. Preoperative, midterm (minimum of 4 years), and long-term (minimum of 8 years) PROs were collected for visual analog scale for pain, modified Harris Hip Score (mHHS), Non-Arthritic Hip Score (NAHS), and 12-item international Hip Outcome Tool (iHOT-12). The percentages achieving minimal clinically important difference (MCID) were calculated. PROs and survival were compared between patients with and without residual loose bodies evident on immediate postoperative CT scan.
    UNASSIGNED: A total of 28 patients (20% of patients were lost to follow-up) were included in the study with a mean follow-up period of 104.9 months (range, 96-139 months). PROs including visual analog scale for pain (preoperative, 3.8 ± 1.2; midterm, 0.9 ± 1.7; long-term, 0.8 ± 1.4), mHHS (preoperative, 66.4 ± 14.4; midterm, 92.8 ± 12.3; long-term, 93.5 ± 10.5), NAHS (preoperative, 45.2 ± 16.2; midterm, 81.8 ± 15.3; long-term, 83.1 ± 12.9), and iHOT-12 (preoperative, 48.4 ± 15.6; midterm, 69.3 ± 11.7; long-term, 72.7 ± 11.4) were improved at both midterm and long-term follow-up (all with P < .001). In total, 27 (96.4%), 28 (100%), and 26 (92.9%) patients achieved MCID for mHHS, NAHS and iHOT-12, respectively, at the long-term follow-up. No significant difference was found in any of the PROs and the rate of achieving MCID between midterm and long-term follow-up (all with P > .05). One patient (3.6%) underwent revision surgery. Among the 23 patients who had loose bodies on preoperative CT or radiographs, 14 patients (60.9%) with residual loose bodies evident on immediate postoperative CT demonstrated lower NAHS (P = .045) and iHOT-12 (P = .037) scores but a comparable survival (P > .05) at long-term follow-up compared with those who did not have loose bodies.
    UNASSIGNED: Arthroscopic treatment for hip synovial chondromatosis achieved satisfactory long-term clinical outcomes with strong survival. Most patients maintained or improved their overall functional status between midterm and long-term follow-up. Furthermore, patients with residual loose bodies had less favorable clinical outcomes, although the survival rate was comparable.
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  • 文章类型: Journal Article
    骨外软骨瘤是不附着于骨骼或骨膜的小结节性软骨病变。它们是罕见的肿瘤,通常发生在手和脚。本研究的目的是描述左膝骨外肌内软骨瘤(EIC)的病例以及我们面临的诊断挑战。一名25岁的女性患者表现为左膝肿胀缓慢增长2年。临床上,肿胀是由股四头肌引起的。我们考虑了横纹肌瘤等可能性,神经纤维瘤,和肌内脂肪瘤.影像学检查提示良性脂肪瘤。她接受了切除治疗。显微镜检查与EIC一致,无复发。一个罕见的实体,临床上,EIC可以模拟其他良性软组织肿瘤。组织病理学检查可以提供明确的诊断。切除肿瘤是治愈性的。
    Extraskeletal chondromas are small nodular cartilaginous lesions not attached to bone or the periosteum. They are rare tumors commonly occurring in the hands and feet. The objective of the present study is to describe a case of extraskeletal intramuscular chondroma (EIC) in the left knee and the diagnostic challenges faced by us. A 25-year-old female patient presented with slow-growing swelling in the left knee for 2 years. Clinically, the swelling was arising from the quadriceps muscle. We considered possibilities such as rhabdomyoma, neurofibroma, and intramuscular lipoma. Imaging studies suggested a benign fatty tumor. She was treated by excision. Microscopy was consistent with EIC without recurrence. A rare entity, clinically, EIC can mimic other benign soft-tissue tumors. Histopathology exams can provide a definitive diagnosis. The excision of the tumor is curative.
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  • 文章类型: Journal Article
    髋关节原发性滑膜软骨瘤病是一种罕见的关节疾病,其特征是滑膜内软骨组织的异常增殖,这导致软骨细胞簇的形成漂浮在关节空间。这篇评论提供了病理学的全面概述,包括症状,诊断,治疗方案和长期管理。原发性滑膜软骨瘤病患者主诉疼痛和功能障碍,伴随着运动过程中一种特殊的关节爆裂感,所以确定早期残疾。早期治疗可以导致更好的临床结果,随着关节功能的增强和长期残疾风险的降低,但严格取决于症状的确认和正确的影像学解释。作为一种慢性病理学,手术方法必须是更大的医疗和康复护理计划的一部分,长期随访。多学科团队管理,患者的积极参与对改善临床结局和生活质量至关重要。
    UNASSIGNED: Primary synovial chondromatosis of the hip is a rare joint condition characterized by the abnormal proliferation of cartilaginous tissue within the synovial membrane, which leads to the formation of clusters of chondrocytes floating in the joint space. This commentary provides a comprehensive overview of the pathology, including symptoms, diagnosis, treatment options and long-term management. Patients with primary synovial chondromatosis complaint pain and functional impairment, together with a peculiar joint popping sensation during movement, so determining early disability. The early treatment can lead to better clinical outcomes, with increased preservation of joint function and reduced risk of long-term disability, but strictly depend on symptoms acknowledgement and proper imaging interpretation. As a chronic pathology, surgical approach must necessarily be part of a larger medical and rehabilitative care planning, with long period follow-up. Multidisciplinary team management, with the active involvement of the patient is pivotal in improving the clinical outcomes and quality of life.
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  • 文章类型: Journal Article
    目的:报告滑膜骨软骨瘤病的手术结果,一种罕见的颈椎肿瘤,一个6岁的男孩。
    方法:一名6岁男孩在手动肌肉测试中出现右三角肌(2)和二头肌(4)肌肉无力。磁共振成像显示,C4-6水平的椎管内有3×2×1.5cm的肿块,从右侧压缩颈脊髓。计算机断层扫描显示肿瘤内的高强度区域以及右C4-5和C5-6小关节的膨胀。
    结果:活检证实没有恶性肿瘤,进行了大体全切除.建立滑膜骨软骨瘤病的病理诊断。术后,肌肉无力在手动肌肉测试中得到充分改善,3个月后没有神经系统检查结果。然而,由于术后2年在右侧C4-5和C5-6椎间孔内检测到再生部位,患者正在接受仔细的随访.
    结论:儿童颈椎滑膜骨软骨瘤病很少见,这是它手术后再生的第一份报告。小儿颈椎肿瘤的鉴别诊断应包括滑膜骨软骨瘤病。
    OBJECTIVE: To report the surgical outcome of synovial osteochondromatosis, a rare tumor of the cervical spine, in a 6-year-old boy.
    METHODS: A 6-year-old boy presented with muscle weakness in the right deltoid (2) and biceps (4) during a manual muscle test. Magnetic resonance imaging showed a 3 × 2 × 1.5 cm mass within the spinal canal at the C4-6 level, compressing the cervical spinal cord from the right side. Computed tomography revealed hyperintense areas within the tumor and ballooning of the right C4-5 and C5-6 facet joints.
    RESULTS: After a biopsy confirmed the absence of malignancy, a gross total resection was performed. The pathological diagnosis of synovial osteochondromatosis was established. Postoperatively, muscle weakness improved fully in the manual muscle test, and there were no neurological findings after 3 months. However, the patient is under careful follow-up owing to the detection of a regrowth site within the right C4-5 and C5-6 intervertebral foramen 2 years postoperatively.
    CONCLUSIONS: Synovial osteochondromatosis of the cervical spine in children is rare, and this is the first report of its regrowth after surgery. Synovial osteochondromatosis should be included in the differential diagnosis of pediatric cervical spine tumors.
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  • 文章类型: Review
    背景:滑膜软骨瘤病是一种非恶性滑膜疾病,其特征是滑膜内存在软骨形成,导致出现可能附着或未附着的多个软骨结节。这种解剖特征的存在经常在关节中观察到,例如膝盖,臀部,弯头,和脚踝。
    方法:在本研究中,我们介绍了一个60岁出头的健康男性膝关节滑膜软骨瘤病。值得注意的是,患者同时出现87个大的松散尸体。在关节内出现大量尺寸明显的未连接实体是非常罕见的。
    结论:患者有多个滑膜软骨瘤,一种罕见的疾病.滑膜软骨瘤病是一种良性疾病;然而,滑膜生长可引起化脓性软骨结节。关节中的大多数松散体可以磨损和退化关节软骨,造成长期不适。因此,早期手术切除松散的身体和仔细切除滑膜组织是必要的治疗这种情况。
    BACKGROUND: Synovial chondromatosis is a non-malignant synovial disorder characterized by the presence of cartilage formation within the synovial membrane, leading to the emergence of multiple cartilaginous nodules that may be either attached or unattached. The presence of this anatomical feature is frequently observed in articulations such as the knee, hip, elbow, and ankle.
    METHODS: In this study, we present a case of synovial chondromatosis in the knee joint of a healthy male in his early 60s. Notably, the patient exhibited the simultaneous presence of 87 large loose bodies. The occurrence of a substantial quantity of unattached entities of notable dimensions within the joint is highly uncommon.
    CONCLUSIONS: The patient had several synovial chondromas, a rare disease. Synovial chondromatosis is a benign disorder; however, growing synovium can cause pyogenic cartilage nodules. Most loose bodies in joints can abrade and degenerate articular cartilage, causing long-term discomfort. Thus, an early-stage procedure to remove loose bodies and carefully excise synovial tissue is necessary to treat this condition.
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  • 文章类型: Journal Article
    滑膜软骨瘤病(SC)是一种滑膜疾病,其特征是滑膜内形成骨软骨结节。本研究旨在鉴定异常分化的祖细胞和可能的致病信号通路。膝关节置换术期间,从SC患者获得了松散的身体和滑膜。单细胞RNA测序用于鉴定SC滑膜中的细胞亚群及其基因特征。来自骨关节炎(OA)滑膜的细胞用作对照。使用多分化和集落形成测定来鉴定祖细胞。通过计算分析和实验验证,研究了转录因子和信号通路的作用。我们鉴定了SC滑膜中CD34+亚衬成纤维细胞的比例增加。从SC滑膜中分选CD34+CD31-细胞和CD34-CD31-细胞。与CD34-细胞相比,成骨诱导后,CD34细胞的碱性磷酸酶(ALP)染色面积和钙化面积较大。此外,CD34+细胞比CD34-细胞具有更强的成管能力。我们的生物信息学分析表明TWIST1的表达,TWIST1是成骨的负调节因子,在CD34-成纤维细胞中,并受TGF-β信号通路的调节。实验表明,CD34+细胞在培养过程中获得了TWIST1的表达以及TGF-β1和harmine的结合,Twist1的抑制剂,可以进一步刺激CD34+细胞的成骨。总的来说,SC滑膜中的CD34+滑膜成纤维细胞具有多向分化潜能,尤其是成骨分化潜能,并可能与SC的发病机制有关。
    Synovial chondromatosis (SC) is a disorder of the synovium characterized by the formation of osteochondral nodules within the synovium. This study aimed to identify the abnormally differentiated progenitor cells and possible pathogenic signaling pathways. Loose bodies and synovium were obtained from patients with SC during knee arthroplasty. Single-cell RNA sequencing was used to identify cell subsets and their gene signatures in SC synovium. Cells derived from osteoarthritis (OA) synovium were used as controls. Multi-differentiation and colony-forming assays were used to identify progenitor cells. The roles of transcription factors and signaling pathways were investigated through computational analysis and experimental verification. We identified an increased proportion of CD34+ sublining fibroblasts in SC synovium. CD34+CD31- cells and CD34-CD31- cells were sorted from SC synovium. Compared with CD34- cells, CD34+ cells had larger alkaline phosphatase (ALP)-stained area and calcified area after osteogenic induction. In addition, CD34+ cells exhibited a stronger tube formation ability than CD34- cells. Our bioinformatic analysis suggested the expression of TWIST1, a negative regulator of osteogenesis, in CD34- sublining fibroblasts and was regulated by the TGF-β signaling pathway. The experiment showed that CD34+ cells acquired the TWIST1 expression during culture and the combination of TGF-β1 and harmine, an inhibitor of Twist1, could further stimulate the osteogenesis of CD34+ cells. Overall, CD34+ synovial fibroblasts in SC synovium have multiple differentiation potentials, especially osteogenic differentiation potential, and might be responsible for the pathogenesis of SC.
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  • 文章类型: Journal Article
    简介:磷灰石风湿病(AR),软骨钙质沉着症(Ch-C),和原发性滑膜软骨瘤病(prSynCh)被认为是不同的临床实体。Bély和Apanthy(2013)引入的非染色技术开启了晶体诱发疾病的显微诊断的新纪元,允许分析MSU(尿酸单钠一水合物)HA(羟基磷灰石钙),CPPD(焦磷酸钙二水合物)晶体,胆固醇,结晶液体脂滴,和其他晶体在未染色的切片中进行常规处理(甲醛水溶液固定,石蜡包埋的)组织样本。这项研究的目的是描述AR中晶体沉积物的特征性组织学,Ch-C,和prSynCh与传统染色和组织化学反应,与未染色的组织切片进行比较,根据Bély和Apáthy(2013)。患者和方法:4例磷灰石风湿病(密尔沃基综合征)的组织样本,16患有软骨钙质沉着症,并对20例临床诊断为原发性滑膜软骨瘤病进行了分析。结果与结论:磷灰石风湿病,软骨钙质沉着症,和原发性滑膜软骨瘤病是与HA和CPPD沉积相关的代谢紊乱。作者认为AR和Ch-C是同一代谢紊乱的不同阶段,在无定形矿物生产方面与prSynCh不同,此外,在软骨样的生产中,类骨质和/或骨。prSynCh是HA和CPPD诱导的代谢紊乱的缺陷变体,具有降低的矿化能力,其中缺乏的矿化被软骨样和/或骨形成所取代。与传统的染色和组织化学反应相比,Bély和Apanthy的非染色技术被证明是在代谢性疾病中演示晶体的有效方法。
    Introduction: Apatite rheumatism (AR), chondrocalcinosis (Ch-C), and primary synovial chondromatosis (prSynCh) are regarded as distinct clinical entities. The introduction of the non-staining technique by Bély and Apáthy (2013) opened a new era in the microscopic diagnosis of crystal induced diseases, allowing the analysis of MSU (monosodium urate monohydrate) HA (calcium hydroxyapatite), CPPD (calcium pyrophosphate dihydrate) crystals, cholesterol, crystalline liquid lipid droplets, and other crystals in unstained sections of conventionally proceeded (aqueous formaldehyde fixed, paraffin-embedded) tissue samples. The aim of this study was to describe the characteristic histology of crystal deposits in AR, Ch-C, and prSynCh with traditional stains and histochemical reactions comparing with unstained tissue sections according to Bély and Apáthy (2013). Patients and methods: Tissue samples of 4 with apatite rheumatism (Milwaukee syndrome), 16 with chondrocalcinosis, and 20 with clinically diagnosed primary synovial chondromatosis were analyzed. Results and conclusion: Apatite rheumatism, chondrocalcinosis, and primary synovial chondromatosis are related metabolic disorders with HA and CPPD depositions. The authors assume that AR and Ch-C are different stages of the same metabolic disorder, which differ from prSynCh in amorphous mineral production, furthermore in the production of chondroid, osteoid and/or bone. prSynCh is a defective variant of HA and CPPD induced metabolic disorders with reduced mineralization capabilities, where the deficient mineralization is replaced by chondroid and/or bone formation. The non-staining technique of Bély and Apáthy proved to be a much more effective method for the demonstration of crystals in metabolic diseases than conventional stains and histochemical reactions.
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    文章类型: Case Reports
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  • 文章类型: Journal Article
    目的:这里,我们的目的是研究临床,radiographical,颞下颌关节滑膜软骨瘤病(颞下颌关节滑膜软骨瘤病)的组织病理学特征,为早期诊断和治疗预后提供参考。
    方法:TMJ中SC患者的病历和影像学检查,使用术后组织病理学检查诊断,进行了回顾和分析。其中,选择螺旋计算机断层扫描或锥形束计算机断层扫描(SCT/CBCT)上缺乏钙化疏松体的18例进行进一步研究。采用描述性统计方法分析患者的临床特征。
    结果:该研究包括100例TMJSC患者,主要是女性(男性对女性:1:3),年龄从21岁到77岁(中位数,47).18例SCT/CBCT上不透射线钙化病灶缺失,但手术中观察到软骨结节。缺乏钙化的病例病程相对较短,表明他们处于SC的早期阶段。
    结论:在SC的早期阶段,尽管在SCT/CBCT上无法检测到钙化的松散体,应注意后上关节间隙的扩大和关节窝的硬化或轻微侵蚀。磁共振成像将有助于检测TMJ的早期SC。
    Herein, we aimed to study the clinical, radiographical, and histopathologic features of synovial chondromatosis in the temporomandibular joint (SC in TMJ) and provide references for early diagnosis and treatment prognosis.
    The medical records and imaging examinations of patients with SC in TMJ, diagnosed using postoperative histopathologic examination, were reviewed and analyzed. Among them, 18 cases who lacked calcified loose bodies on spiral computed tomography or cone beam computed tomography (SCT/CBCT) were selected for further study. Descriptive statistical methods were used to analyze the clinical characteristics of patients.
    The study included 100 patients with SC in TMJ, who were predominantly female (male to female: 1:3), and were aged from 21 to 77 years (median, 47). Radiopaque calcified lesions on SCT/CBCT were missing in 18 cases, but cartilaginous nodules were observed during surgery. The cases lacking calcification had a relatively shorter disease course, suggesting they were in the early stages of SC.
    In the early stage of SC, although calcified loose bodies cannot be detected on SCT/CBCT, attention should be paid to the widening of the posterior superior joint space and sclerosis or slight erosion of the joint fossa. Magnetic resonance imaging would be helpful to detect the early-stage SC in TMJ.
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  • 文章类型: Journal Article
    背景:滑膜软骨瘤病(SC)主要影响主要关节,其特征是良性软骨结节的形成。在本研究中,我们评估了SC和正常软骨的组织学和基因表达的差异,并进一步阐明了SC中hub基因的功能。
    方法:进行组织学染色和生化分析,以测量SC和正常软骨样品中的胶原蛋白和糖胺聚糖(GAG)含量。然后,使用膝关节样品(三个正常和三个SC样品)进行微阵列分析以鉴定差异表达的基因(DEGs)。随后,进行生物信息学分析以鉴定hub基因并探索SC的潜在机制。前10个上调DEG的交点,前10个下调的DEG,并在SC组织中验证了hub基因。最后,体外实验和我们的临床队列用于确定潜在的生物学功能和诊断价值,分别,最重要的基因。
    结果:SC组织中的GAG和胶原蛋白含量与正常组织相当或更高。微阵列分析显示SC中143个上调和107个下调的DEG。此外,功能富集分析显示免疫和代谢相关途径与SC发育之间存在关联。在20个枢纽基因中,两个交叉基因,即,胶原III型α1链(COL3A1)和HSPA8在SC组织中显著表达,与COL3A1表现出更显著的mRNA表达差异。此外,COL3A1可促进软骨细胞迁移和细胞周期进程。此外,临床数据显示,COL3A1可以作为原发性SC的诊断标志物(AUC=0.82),并且与中性粒细胞/淋巴细胞比值呈正相关.
    结论:这些结果表明SC组织含有丰富的GAG和胶原。COL3A1可以影响软骨细胞的功能,是原发性SC患者的诊断标志物。这些发现为SC的诊断和治疗提供了一种新颖的方法和基本的贡献。
    BACKGROUND: Synovial chondromatosis (SC) primarily affects the major joints and is characterized by the formation of benign cartilaginous nodules. In the present study, we evaluated the differences in the histology and gene expression of SC and normal cartilages and further elucidated the function of hub genes in SC.
    METHODS: Histological staining and biochemical analysis were performed to measure collagen and glycosaminoglycan (GAG) contents in SC and normal cartilage samples. Then, microarray analysis was performed using knee joint samples (three normal and three SC samples) to identify the differentially expressed genes (DEGs). Subsequently, bioinformatics analysis was performed to identify the hub genes and explore the mechanisms underlying SC. The intersection of the top 10 upregulated DEGs, top 10 downregulated DEGs, and hub genes was validated in SC tissues. Lastly, in vitro experiments and our clinical cohort were used to determine the potential biological functions and diagnostic value, respectively, of the most significant gene.
    RESULTS: The GAG and collagen contents were comparable to or higher in SC tissues than in normal tissues. Microarray analysis revealed 143 upregulated and 107 downregulated DEGs in SC. Furthermore, functional enrichment analysis revealed an association between immunity and metabolism-related pathways and SC development. Among 20 hub genes, two intersection genes, namely, collagen type III alpha 1 chain (COL3A1) and HSPA8, were notably expressed in SC tissues, with COL3A1 exhibiting a more significant difference in mRNA expression. Furthermore, COL3A1 can promote chondrocyte migration and cell cycle progression. Additionally, clinical data revealed COL3A1 can be a diagnostic marker for primary SC (AUC = 0.82) and be a positive correlation with neutrophil-to-lymphocyte ratio.
    CONCLUSIONS: These results suggest that SC tissues contained the abundant GAG and collagen. COL3A1 can affect the function of chondrocytes and be a diagnostic marker of primary SC patients. These findings provide a novel approach and a fundamental contribution for diagnosis and treatment in SC.
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