joint contracture

关节挛缩
  • 文章类型: Case Reports
    hallux指间关节(IPJ)屈曲挛缩是一种罕见的畸形,具有各种潜在原因。包括外伤,神经系统疾病,和结缔组织病变。我们介绍了一个10岁女性患者的独特病例,该患者患有1型神经纤维瘤病(NF1)和腓骨转位手术史,导致幻觉IPJ屈曲挛缩。我们认为,腓骨收获后,长伸肌(EHL)的腓骨近端连接丧失,导致EHL无力和无相反的长屈肌(FHL)拉力,最终导致挛缩。患者接受了各种诊断评估,排除畸形的其他潜在原因。这种情况强调了在遇到脚趾屈曲挛缩时考虑先前手术干预的重要性。
    Hallux interphalangeal joint (IPJ) flexion contracture is an uncommon deformity with various underlying causes, including trauma, neurological disorders, and connective tissue pathologies. We present a unique case of a 10-year-old female patient with neurofibromatosis type 1 (NF1) and a history of fibula transposition surgery, resulting in a hallux IPJ flexion contracture. We believe that the loss of the proximal fibular attachment of the extensor hallucis longus (EHL) following fibula harvesting resulted in EHL weakness and unopposed flexor hallucis longus (FHL) pull that eventually led to the contracture. The patient underwent various diagnostic assessments, ruling out other potential causes of the deformity. This case emphasizes the importance of considering previous surgical interventions when encountering flexion contractures of the toes.
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  • 文章类型: Journal Article
    本范围审查的目的是综合和澄清有关主动和被动运动治疗技术的有效性的文献,以解决异位骨化(HO)患者的运动范围,并根据现有证据为治疗师的临床决策提供指导。
    要找到包括治疗性干预措施的文章,以维持或改善异位骨化患者的运动范围,作者搜索了以下数据库:Cochrane系统评价数据库,PubMed,CINAHL,心理信息,WebofScience,和OTSeeker。为了确保搜索是全面的,作者还搜索了伯恩斯和创伤,伯恩斯杂志,Burns打开,和《手部治疗杂志》。搜索仅限于以英语发表的同行评审文章。没有设置发布日期限制。使用物理治疗证据数据库PEDro量表来衡量每篇文章的方法学质量的有效性。
    五项研究符合纳入标准。.两项研究强调,被动运动范围对不到50%的受试者有效,而其他三项研究只利用了活动范围,报告50%的患者不需要手术.
    没有足够的证据来确定HO的有效治疗管理,并且确实存在的文献相互矛盾且尚无定论。未来的研究是必要的,以确定是否有任何有效的手动治疗方法存在于患者的HO。
    UNASSIGNED: The objective of this scoping review is to synthesize and clarify literature on the effectiveness of active and passive range of motion therapy techniques to address range of motion in people with heterotopic ossification (HO), and to provide guidance to therapists in clinical decision-making based on current evidence.
    UNASSIGNED: To find articles that included therapeutic interventions to maintain or improve range of motion in people with heterotopic ossification, the authors searched the following databases: Cochrane Database of Systematic Reviews, PubMed, CINAHL, PsychINFO, Web of Science, and OTSeeker. To ensure that the search was comprehensive, the authors also searched Burns and Trauma, Burns Journal, Burns Open, and the Journal of Hand Therapy. Searches were limited to peer-reviewed articles published in the English language. No publication date limits were set. The Physiotherapy Evidence Database PEDro scale was utilized to measure the validity of the methodological quality of each article.
    UNASSIGNED: Five studies met the inclusion criteria.. Two studies emphasized that passive range of motion was effective in less than 50% of their subjects, while the other three studies utilized active range of motion only, reporting 50% of patients did not require surgery.
    UNASSIGNED: There is insufficient evidence to determine effective therapeutic management of HO and the literature that does exist is contradictory and inconclusive. Future research is necessary to determine if any effectiveness of manual therapeutic approaches exists for patients with HO.
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  • 文章类型: Journal Article
    关节挛缩是临床常见病之一,关节囊纤维化被认为是关节挛缩最重要的病理改变之一。然而,关节囊纤维化的潜在机制仍存在争议。本研究旨在建立大鼠膝关节伸展性关节挛缩的动物模型,并利用该动物模型研究缺氧介导的焦亡在关节挛缩进展中的作用。选择36只雄性SD大鼠,其中6个未固定,作为对照组,将30只大鼠分为I-1组(自由运动7周后固定1周),I-2组(自由运动6周后固定2周),I-4组(4周自由运动后固定4周),I-6组(固定6周,2周后自由运动)和I-8组(固定8周)根据不同的固定时间。通过测量膝关节活动范围来评估关节挛缩的进展,用Masson染色检查关节囊中的胶原沉积,HIF-1α的蛋白表达水平,NLRP3,Caspase-1,GSDMD-N,使用蛋白质印迹法评估关节囊中的TGF-β1,α-SMA和p-Smad3,透射电镜观察成纤维细胞的形态变化。总挛缩和关节源性挛缩的程度从第一周开始进展,并持续到固定后的前八周。固定后的前四周,总挛缩和关节源性挛缩的程度迅速发展,然后缓慢发展。Masson染色表明,固定后的前8周内,关节囊中的胶原蛋白沉积逐渐增加。Westernblotting分析显示HIF-1α的蛋白水平在固定的前8周持续增加,固定后的前4周,焦亡相关蛋白NLRP3,Caspase-1,GSDMD-N的蛋白水平持续升高,然后下降。纤维化相关蛋白TGF-β1,p-Smad3和α-SMA的蛋白质水平在固定后的前8周内持续增加。透射电镜显示4周的固定化诱导细胞膜破裂和细胞内容物溢出,这进一步表明焦亡的激活。外固定矫形器可建立大鼠膝关节扩张关节挛缩动物模型,缺氧介导的焦亡的激活可能在关节囊纤维化和关节挛缩的过程中起刺激作用。
    Joint contracture is one of the common diseases clinically, and joint capsule fibrosis is considered to be one of the most important pathological changes of joint contracture. However, the underlying mechanism of joint capsule fibrosis is still controversial. The present study aims to establish an animal model of knee extending joint contracture in rats, and to investigate the role of hypoxia-mediated pyroptosis in the progression of joint contracture using this animal model. 36 male SD rats were selected, 6 of which were not immobilized and were used as control group, while 30 rats were divided into I-1 group (immobilized for 1 week following 7 weeks of free movement), I-2 group (immobilized for 2 weeks following 6 weeks of free movement), I-4 group (immobilized for 4 weeks following 4 weeks of free movement), I-6 group (immobilized for 6 weeks following 2 weeks of free movement) and I-8 group (immobilized for 8 weeks) according to different immobilizing time. The progression of joint contracture was assessed by the measurement of knee joint range of motion, collagen deposition in joint capsule was examined with Masson staining, protein expression levels of HIF-1α, NLRP3, Caspase-1, GSDMD-N, TGF-β1, α-SMA and p-Smad3 in joint capsule were assessed using western blotting, and the morphological changes of fibroblasts were observed by transmission electron microscopy. The degree of total and arthrogenic contracture progressed from the first week and lasted until the first eight weeks after immobilization. The degree of total and arthrogenic contracture progressed rapidly in the first four weeks after immobilization and then progressed slowly. Masson staining indicated that collagen deposition in joint capsule gradually increased in the first 8 weeks following immobilization. Western blotting analysis showed that the protein levels of HIF-1α continued to increase during the first 8 weeks of immobilization, and the protein levels of pyroptosis-related proteins NLRP3, Caspase-1, GSDMD-N continued to increase in the first 4 weeks after immobilization and then decreased. The protein levels of fibrosis-related proteins TGF-β1, p-Smad3 and α-SMA continued to increase in the first 8 weeks after immobilization. Transmission electron microscopy showed that 4 weeks of immobilization induced cell membrane rupture and cell contents overflow, which further indicated the activation of pyroptosis. Knee extending joint contracture animal model can be established by external immobilization orthosis in rats, and the activation of hypoxia-mediated pyroptosis may play a stimulating role in the process of joint capsule fibrosis and joint contracture.
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  • 文章类型: Case Reports
    一个52岁的女人,具有多方面的医学背景,包括脊髓损伤,肺炎,和反复住院,呈现持久的左臀部和腿部不适,最终被诊断为缺血性坏死(AVN)。在去除骨科伪影期间,她曾接受过左髋关节骨内直接前关节成形术(DAA)。尽管持续的高血压,转子严重脱位,假体骨折,她康复了,需要额外的手术来解决脱位和骨折。这个案例强调了诊断和治疗AVN的挑战,强调细致的术后护理和多学科方法的重要性。AVN强调的挑战包括延迟诊断,复杂的外科手术,以及该患者由于硬件并发症和感染而可能需要进一步干预。
    A 52-year-old woman, with a multifaceted medical background encompassing spinal cord injury, pneumonia, and recurrent hospitalizations, presents with enduring left hip and leg discomfort ultimately diagnosed as avascular necrosis (AVN). She previously underwent intraosseous direct anterior arthroplasty (DAA) of the left hip during the removal of orthopedic artifacts. Despite enduring hypertension, severe trochanter dislocation, and prosthesis fracture, she recovered and required additional surgery to address the dislocation and fracture. This case underscores the challenges in diagnosing and treating AVN, emphasizing the importance of meticulous postoperative care and a multidisciplinary approach. Challenges highlighted by AVN include delayed diagnosis, intricate surgical procedures, and the potential need for further interventions due to hardware complications and infection as seen in this patient.
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  • 文章类型: Journal Article
    Dupuytren病(DD)是一种纤维增生性疾病,表现为肌成纤维细胞的异常生长,导致结节形成和挛缩并影响手指功能。如果不及时治疗,这些挛缩可导致丧失活动能力,并可能影响手功能.本系统综述严格地比较和评估了可注射胶原酶溶组织梭状芽胞杆菌(CCH)和有限筋膜切除术(LF)后DD的并发症和患者满意度的现有文献。我们对PubMed进行了全面搜索,医学文献在线分析和检索系统(MEDLINE),科克伦图书馆,和ExcerptaMedica数据库(EMBASE)数据库从2006年到2023年8月。这项研究针对所有涉及在DD管理中接受可注射胶原酶和/或有限筋膜切除术的成年人的临床研究。在437项确定的研究中,只有53人被认为符合我们的分析条件,只有14个符合我们的入选标准。这些选定的研究包括总共967名患者,1,344个接受治疗的关节,平均随访时间为19.22个月(1至84.06个月)。在这个群体中,385名患者的498个关节接受了LF,而491名患者的846个关节接受了CCH注射。值得注意的是,在接受CCH治疗的491名患者中,报告了1,060例并发症,平均每个患者2.15个并发症,最常见的是挫伤/瘀伤/血肿/瘀斑(22.54%),水肿/肿胀(18.96%)。相比之下,在接受LF治疗的385例患者中,仅报告了97例并发症,转化为每名患者0.25个并发症,最常见的是感觉异常或麻木(23.7%),疤痕后遗症如皮肤撕裂,眼泪,裂隙,或肥厚性瘢痕(23.7%),和神经失用症或神经损伤(22.6%)。我们的荟萃分析表明,在LF中比CCH注射更频繁地观察到感觉异常或麻木,虽然没有统计学意义,风险比(RR)为0.39(95%置信区间(CI)0.13-1.18,p值0.1)。然而,疤痕后遗症(肥厚性疤痕,皮肤撕裂,眼泪,或裂缝)显示出对比图案,比LF更常见地与CCH注入相关,RR为1.98(95%CI0.26-14.85,p值0.51),which,在消除异质性的根源后,变得具有统计学意义,RR为4.98(95%CI1.40-17.72,p值0.01)。我们的数据显示,与LF相比,CCH并发症的频率更高,尽管在LF组中观察到更严重的不良反应,如神经失用症或神经损伤。CCH注射更常见疤痕后遗症。尽管两种治疗方法在最后的随访中都显示出患者满意度的提高,CCH注入导致满意度的早期提高。
    Dupuytren\'s disease (DD) is a fibroproliferative disorder that manifests as an abnormal growth of myofibroblasts, causing nodule formation and contractures and affecting digit function. If left untreated, these contractures can lead to a loss of mobility and potentially impact hand function. This systematic review critically compares and evaluates the existing literature on the complications and patient satisfaction following injectable collagenase Clostridium histolyticum (CCH) versus limited fasciectomy (LF) for DD. We performed a comprehensive search of the PubMed, Medical Literature Analysis and Retrieval System Online (MEDLINE), The Cochrane Library, and Excerpta Medica database (EMBASE) databases from 2006 to August 2023. This research targeted all clinical studies involving adults who underwent injectable collagenase and/or limited fasciectomy in the management of DD. Out of the 437 identified studies, only 53 were considered eligible for our analysis, and merely 14 met our inclusion criteria. These selected studies encompassed a total of 967 patients with 1,344 treated joints, with an average follow-up duration of 19.22 (ranging from one to 84.06) months. Within this cohort, 498 joints from 385 patients underwent LF, while 846 joints from 491 patients received CCH injections. Notably, among the 491 patients treated with CCH, 1,060 complications were reported, averaging 2.15 complications per patient, with the most common being contusion/bruising/hematoma/ecchymosis (22.54%), and edema/swelling (18.96%). In contrast, among the 385 patients treated with LF, only 97 complications were reported, translating to 0.25 complications per patient, with the most frequent being paraesthesia or numbness (23.7%), scar sequelae like skin laceration, tear, fissure, or hypertrophic scar (23.7%), and neuropraxia or nerve injury (22.6%). Our meta-analysis indicates that paraesthesia or numbness is more frequently observed in LF than CCH injections, although without statistical significance, with a risk ratio (RR) of 0.39 (95% confidence interval (CI) 0.13-1.18, p-value 0.1). However, scar sequelae (hypertrophic scar, skin laceration, tear, or fissure) show a contrasting pattern, being more commonly associated with CCH injections than LF, with an RR of 1.98 (95% CI 0.26-14.85, p-value 0.51), which, upon eliminating the source of heterogeneity, becomes statistically significant, with an RR of 4.98 (95% CI 1.40-17.72, p-value 0.01). Our data revealed a higher frequency of complications with CCH compared to LF, although more severe adverse effects were observed in the LF group, such as neuropraxia or nerve injury. Scar sequelae were more common with CCH injections. Despite both treatments showing increased patient satisfaction at the final follow-up, CCH injection resulted in earlier improvements in satisfaction.
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  • 文章类型: Journal Article
    近端指间(PIP)关节挛缩是一种常见的,轻微创伤可能引起的临床难题。管理是困难的,因为结果是不可预测的,而且往往是糟糕的,由于术后残余屈曲畸形。目前文献中没有讨论PIP关节屈曲挛缩的背侧入路。在本技术指南中,我们希望描述和解释背部方法的基本原理。根据我们的经验,背侧入路可以轻松进入所有病理结构,通过简单的数字定位来允许进入掌管结构,以及用PIP挛缩寻址多个数字时。最后,类似于中轴方法,背侧入路也消除了任何掌侧软组织的顾虑和补充覆盖的需要.
    Proximal interphalangeal (PIP) joint contracture is a common, difficult clinical problem that can arise from minor trauma. Management is difficult because outcomes are unpredictable and often poor, due to residual flexion deformities postoperatively. The dorsal approach for flexion contracture of the PIP joint is not discussed in present literature. In this technique guide, we wish to describe and explain the rationale for a dorsal approach. In our experience, a dorsal approach allows for ease of access to all pathologic structures, with simple positioning of the digit to allow access to volar structures, as well as when addressing more than one digits with a PIP contracture. Finally, similar to the midaxial approach, the dorsal approach also eliminates any volar soft tissue concerns and need for supplemental coverage.
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  • 文章类型: Journal Article
    背景与目的屈肌腱损伤的发生率估计为每100,000人中7-14人。在印度,这种损伤很常见,其中约5%的损伤需要修复屈肌腱。在本研究中,我们在印度西部的三级护理中心分享我们手屈肌腱修复的经验。材料和方法在三年内,45例患者入院接受肌腱修复。在进行了适当的评估后,患者接受肌腱修复。在三个月结束时评估主要结果和次要结果参数。在有运动限制的患者中,物理治疗持续更长的时间。在每个阶段汇编数据。结果患者的平均年龄为28.84岁(范围:13-68岁),其中大多数病例属于15-60岁年龄组。大部分手部受伤是意外(由工伤事故造成,机器受伤,或动物咬伤)占80%(n=36),其次是袭击案件(11%,n=5)和自我伤害,即,自杀未遂(约9%,n=4)。在所有的伤害中,大多数在V区(60%,n=27),其次是II区的24.4%(n=11)的病例。一些案件在一区,III,和IV(2.2%,11.2%,和2.2%)。原发性损伤的Buck-Gramcko评分非常出色,恢复率为57.78%。结论屈指肌腱损伤的修复应以恢复强度和活动性为目标。为了获得最佳结果,完全主动运动方案应在手术修复后立即开始.然而,可能需要长期物理治疗才能获得预期的益处。
    Background and objective The incidence of flexor tendon injury is estimated to be 7-14 per 100,000 population. In India, such injuries are common and about 5% of these injuries require repair of the flexor tendon. In the present study, we share our experience of hand flexor tendon repair at a tertiary care center in western India. Material and methods Over a period of three years, 45 patients were admitted for tendon repair. After performing a proper evaluation, patients were taken for tendon repair. Primary outcome and secondary outcome parameters were assessed at the end of three months. Physiotherapy was continued for a longer duration in patients with movement restrictions. Data were compiled at each stage. Results The mean age of the patients was 28.84 years (range: 13-68 years) with a majority of the cases belonging to the age group 15-60 years. The majority of hand injuries were accidental (caused by work-related accidents, machine injuries, or animal bites) amounting to 80% (n=36), followed by assault cases (11%, n=5) and self-inflicted injuries, i.e., attempted suicides (around 9%, n=4). Among all injuries, the majority were in zone V (60%, n=27) followed by 24.4% (n=11) of cases in zone II. A few cases were in zone I, III, and IV (2.2%, 11.2%, and 2.2% respectively). The Buck-Gramcko scoring for primary injury was excellent with a recovery rate of 57.78%. Conclusion Flexor tendon injuries should be repaired with the aim of recovering strength as well as mobility. For optimal outcomes, total active motion protocol should be commenced immediately after the surgical repair. However, long-term physiotherapy may be required for attaining desired benefits.
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  • 文章类型: Journal Article
    背景:模拟嗜酸细胞性筋膜炎(EF)的慢性移植物抗宿主病(cGVHD)由于缺乏对其发病机制的了解,是一种未被诊断且具有挑战性的并发症。对传统免疫抑制剂的难治性及其对身体功能和生活质量的负面影响。这项研究的目的是描述一系列病例的临床生物学特征和对治疗的反应,并提供有关cGVHD相关EF参与的综合文献综述。
    方法:前瞻性观察性研究,以描述EF样随访患者的临床和诊断评估特征,作为我们多学科cGVHD咨询的一部分。此外,全面回顾了有关cGVHD引起的关节和/或筋膜肌肉骨骼表现的文献。
    结果:118例患者在多学科cGVHD会诊中进行了评估,其中39人(33%)发生筋膜炎。值得注意的是,11例患者有孤立的关节挛缩,无硬化皮肤。经过三行治疗的中位数,绝大多数患者获得了一定程度的反应。搜索策略确定了94篇潜在符合条件的文章,其中17个,大多数孤立病例报告,做出最终选择。用于评估的经过验证的分期量表是关节和筋膜评分以及摄影运动范围。
    结论:筋膜/关节受累需要早期认识和评估。据我们所知,我们的队列是已报道的第二大系列。关于cGVHD相关筋膜/关节并发症的文献很少。寻找新的生物标志物,使用先进的影像学技术和多学科方法可能有助于改善cGVHD患者的预后。
    BACKGROUND: Chronic graft versus host disease (cGVHD) simulating eosinophilic fasciitis (EF) is an underdiagnosed and challenging complication due to the lack of knowledge about its pathogenesis, refractoriness to traditional immunosuppressive agents and their negative impact on the physical function and quality of life. The aim of this study is to describe the clinical-biological characteristics and response to treatment of a case series and to provide a comprehensive literature review on cGVHD related EF involvement.
    METHODS: Prospective observational study to describe the clinical and diagnostic evaluation characteristics of patients with EF-like follow-up as part of our multidisciplinary cGVHD consultations. In addition, the literature on joint and/or fascial musculoskeletal manifestations due to cGVHD was comprehensively reviewed.
    RESULTS: 118 patients were evaluated in multidisciplinary cGVHD consultations, 39 of whom (33%) developed fasciitis. Notably, 11 patients had isolated joint contractures without sclerotic skin. After a median of three lines of treatment, the vast majority of patients achieved some degree of response. 94 potentially eligible articles were identified by the search strategy, with 17 of them, the majority isolated case reports, making the final selection. The validated staging scales used for the assessment were the Joint and Fascial Score and the Photographic Range of Motion.
    CONCLUSIONS: Fascial/articular involvement needs to be recognized and evaluated early. To our knowledge, our cohort is the second largest series to have been reported. Literature addressing fascial/joints complications related to cGVHD is scarce. The search for new biomarkers, the use of advanced imaging techniques and multidisciplinary approach may help improve the prognosis of patients with cGVHD.
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  • 文章类型: Journal Article
    嗜血性关节病通常与运动范围的丧失有关。全膝关节置换术是终末期血友病性膝关节病患者的有效治疗选择。然而,即使在关节成形术后,运动范围有时仍然不足。
    评估静态渐进式拉伸作为全膝关节置换术后活动范围减小的血友病患者的治疗方法。
    静态渐进式拉伸用于改善术后伸展滞后超过10°且屈曲小于80°的患者的活动范围。总共治疗7个膝盖,平均21.7周。
    当比较治疗前和治疗后的值时,观察到运动范围和膝关节社会评分的统计学显着增加。
    使用矫形装置的静态渐进拉伸可能是治疗全膝关节置换术后血友病患者关节僵硬的成功辅助方法。
    UNASSIGNED: Haemophilic arthropathy is often associated with a loss of range of motion. Total knee arthroplasty is an effective treatment option for patients with end-stage haemophilic arthropathy of the knee. However, even after arthroplasty, the range of motion sometimes remains insufficient.
    UNASSIGNED: To evaluate static progressive stretch as a treatment method for haemophilic patients with decreased range of motion after total knee arthroplasty.
    UNASSIGNED: Static progressive stretch was used to improve range of motion in patients with a postoperative extension lag of more than 10° and flexion of less than 80°. A total of 7 knees were treated for a mean of 21.7 weeks.
    UNASSIGNED: Statistically significant increases in range of motion and in Knee Society Score were observed when comparing pre-treatment and post-treatment values.
    UNASSIGNED: Static progressive stretch using an orthotic device could be a successful adjuvant method for treating joint stiffness in patients with haemophilia after total knee arthroplasty.
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  • 文章类型: Journal Article
    未经证实:Bruck综合征(BS)是一种罕见的常染色体隐性遗传性成骨不全症,其特征是骨脆性和关节挛缩增加。I型BS的致病基因是FKBPl0,而II型BS的致病基因是PLOD2。两种类型的BS之间的临床表型没有发现显着差异。在这项研究中,我们对一个由PLOD2变异体引起的BS谱系进行了遗传分析,并研究了相应的细胞功能.
    未经批准:血清生物化学,甲状旁腺激素(PTH),25-羟基维生素D[25-(OH)D],骨钙蛋白,并评估了患有BS的家庭成员的24小时尿钙水平。通过第二代测序和外显子捕获技术分析了先证者的基因。还对家族成员的可疑负责变体进行Sanger测序。通过基因克隆构建野生型和变异型慢病毒质粒并转染到HEK293T细胞中。通过实时定量聚合酶链反应验证细胞功能,西方印迹,和免疫荧光检测。
    未经证实:在这个谱系中,发现先证者具有纯合变体c.1856G>A(p。Arg619His)在PLOD2(NM_182943.3)的外显子17中。他的近亲父母和姐妹是p.Arg619他的杂合携带者。构建的p.Arg619His变异细胞中PLOD2的mRNA表达显著上调,而细胞裂解物中PLOD2和I型胶原蛋白的表达显著下调。免疫荧光显示野生型PLOD2主要位于细胞质中,c.1856G>A变体后PLOD2蛋白的表达显著下调,几乎没有表情,与蛋白质印迹结果对齐。血清钠,钾,钙,磷,镁,碱性磷酸酶,PTH,25-(OH)D,骨钙蛋白,和24小时先证者的尿钙水平,他的父母,姐妹们都很正常.
    未经授权:通过基因和细胞功能分析,初步证实PLOD2Arg619His错义变体通过减少蛋白质表达而引起BS。
    UNASSIGNED: Bruck syndrome (BS) is a rare autosomal recessive inherited osteogenesis imperfecta disease characterized by increased bone fragility and joint contracture. The pathogenic gene of type I BS is FKBPl0, whereas that of type II BS is PLOD2. No significant difference has been found in the clinical phenotype between the two types of BS. In this study, we performed genetic analysis of a BS pedigree caused by PLOD2 variant and studied the corresponding cellular function.
    UNASSIGNED: Serum biochemistry, parathyroid hormone (PTH), 25-hydroxyvitamin D [25-(OH) D], osteocalcin, and 24-h urinary calcium levels of a family member with BS was assessed. The genes of the proband were analyzed by second-generation sequencing and exon capture techniques. Sanger sequencing was also performed for the suspected responsible variant of the family member. Wild- and variant-type lentivirus plasmids were constructed by gene cloning and transfected into HEK293T cells. Cell function was verified by real-time quantitative polymerase chain reaction, western blotting, and immunofluorescence detection.
    UNASSIGNED: In this pedigree, the proband was found to have a homozygous variant c.1856G > A (p.Arg619His) in exon 17 of PLOD2 (NM_182943.3). His consanguineous parents and sisters were p.Arg619His heterozygous carriers. The mRNA expression of PLOD2 in the constructed p.Arg619His variant cells was significantly upregulated, while the expression of PLOD2 and collagen I protein in the cell lysate was significantly downregulated. Immunofluorescence revealed that the wild-type PLOD2 was mainly located in the cytoplasm, and the expression of the PLOD2 protein after c.1856G > A variant was significantly downregulated, with almost no expression, aligning with the western blot results. The serum sodium, potassium, calcium, phosphorus, magnesium, alkaline phosphatase, PTH, 25-(OH) D, osteocalcin, and 24 h urinary calcium levels of the proband, his parents, and sisters were normal.
    UNASSIGNED: Through gene and cell function analyses, PLOD2 Arg619His missense variant was preliminarily confirmed to cause BS by reducing protein expression.
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