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Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) with postural orthostatic tachycardia syndrome after silicone breast implantation: Case report. 助剂诱导的自身免疫/炎症综合征(ASIA)伴硅胶乳房植入后体位性心动过速综合征:1例报告
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2022.21108
Jozélio Freire de Carvalho, Carolina Bonato Armond de Oliveira, Rogério Vilas Boas, Matheus Franklin Vicente Matias, Larissa Matos Carvalho Bastos

This study illustrates two patients who developed autoimmune/inflammatory syndrome induced by adjuvants (ASIA) with postural orthostatic tachycardia syndrome (POTS) after silicone breast implant (SBI) and improved after SBI extraction.

本研究描述了两例在硅胶乳房植入(SBI)后出现由佐剂诱导的自身免疫/炎症综合征(ASIA)并伴有体位性站立性心动过速综合征(POTS)的患者,并在SBI取出后得到改善。
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引用次数: 1
Camurati-Engelmann Disease: A Case-Based Review About an Ultrarare Bone Dysplasia. Camurati-Engelmann病:一例罕见骨发育不良的病例回顾。
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2023.21115
Philipp Klemm, Iris Aykara, Uwe Lange

Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare hereditary disease that results in a symmetrical hyperostosis of the long bones (cortical thickening) and/or the base of the skull. Camurati-Engelmann disease is also associated with myopathy and neurological manifestations. Clinically, Camurati-Engelmann disease typically presents with bone pain in the lower extremities, muscle weakness, and a wobbly, stilted gait. The disease is caused by mutations in the transforming growth factor-beta 1 gene. Up to date, about 300 cases have been described in the literature. In this case-based review, we present the clinical picture and genetic and radiological findings in a 20-yearold male patient we diagnosed with Camurati-Engelmann disease and our considerations in his treatment and compare the case to the literature. The diagnosis of Camurati-Engelmann disease was confirmed on patients' history, clinical and radiological findings, and genetic testing for transforming growth factor beta-1 mutation. The patient responded well to single therapy with zoledronic acid. Early diagnosis leads to improved clinical outcomes and increased quality of life in affected patients.

Camurati-Engelmann病或进行性骨干发育不良是一种罕见的遗传性疾病,可导致长骨(皮质增厚)和/或颅底对称性骨质增生。Camurati-Engelmann病也与肌病和神经系统症状有关。临床上,Camurati-Engelmann病典型表现为下肢骨痛、肌肉无力和步履蹒跚。这种疾病是由转化生长因子- β 1基因突变引起的。到目前为止,文献中已经描述了大约300例。在这个基于病例的回顾中,我们介绍了一位20岁男性患者的临床表现、遗传和放射学发现,我们诊断为Camurati-Engelmann病,我们在治疗他时的考虑,并将病例与文献进行比较。Camurati-Engelmann病的诊断是通过患者的病史、临床和放射学表现以及转化生长因子β -1突变基因检测来确定的。患者对唑来膦酸单次治疗反应良好。早期诊断可改善临床结果,提高患者的生活质量。
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引用次数: 0
Frosted Branch Angiitis in a Patient with Familial Mediterranean Fever Diagnosis. 家族性地中海热患者的霜状支血管炎诊断。
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2022.22018
Reşit Yıldırım, Mustafa Dinler, Ahmet Özer, Nazife Şule Yaşar Bilge, Timuçin Kaşifoğlu
Corresponding author: Reşit Yıldırım E-mail: celeng18@gmail.com Received: March 18, 2022 Accepted: June 8, 2022 Publication Date: July 29, 2022 A 41-year-old female with a previous diagnosis of familial Mediterranean fever (FMF) was admitted due to a sudden-onset vision loss in the right eye during the third day of FMF attack. Past medical records revealed that she was non-compliant with her colchicine medication and therefore experienced 4 serositis attacks in the last 6 months. The systemic rheumatologic questionnaire was otherwise non-contributory. Ophthalmologic examination of the left eye demonstrated no pathology, whereas fundus evaluation of the right eye showed severe, white vascular sheaths extending from the optic disc to the periphery and preand intra-retinal hemorrhages in all retinal quadrants (Figure 1). Dilated and tortuous veins were detected in fluorescent angiography imaging (Figure 2). Based on these findings, a diagnosis of frosted branch angiitis (FBA) was made. Laboratory investigations were unremarkable except for mild elevations of acute phase parameters. Serologic studies for antinuclear antibody, anticardiolipin antibodies, and antineutrophil cytoplasmic antibodies (ANCA) were negative. Possible infectious agents were also excluded, and extensive radiographic evaluation of the central nervous system was non-revealing. After excluding all other possibilities, a diagnosis of FBA possibly related to FMF was considered and a combination of methylprednisolone (1 mg/kg/day) with tapering doses, azathioprine (2.5 mg/kg/day) and colchicine (0.5 mg, 3 times daily), was initiated. The visual complaints in the right eye completely resolved at the end of the third month. In the fourth month of follow-up, she manifested with sudden-onset vision loss in the same eye during a serositis attack. Colchicine dosage was escalated to 4 times a day with concomitant moderate steroid administration. She is currently on colchicine and azathioprine without any FMF attack and relapses of FBA in the last 6 months
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引用次数: 0
Imaging the Enthesopathy and Manipulating the Fascia: Ultrasound is the "Sous Chef". 超声是“副厨师长”。
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2022.21208
Carmelo Pirri, Carla Stecco, Nina Pirri, Raffaele De Caro, Levent Özçakar
pain
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引用次数: 1
Psoriatic Arthritis: Differential Features at the Time of Clinical Presentation in a Large Cohort of Patients with Polyarthralgia. 银屑病关节炎:多关节痛患者临床表现的差异特征。
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2022.22035
Santiago Ruta, Rosario Jaldin Cespedes, Laura Cuellar, Jonatan Mareco, Darío Aguerre, Rodrigo García Salinas

Objective: Most patients with psoriatic arthritis begin with cutaneous psoriasis, which is why all early detection strategies are based on screening in the dermatological consultation and referral to a rheu matologist. However, there are cases of patients who consult initially for musculoskeletal symptoms, mostly joint pain, regardless of family and/or personal history of psoriasis. This study aimed to esti mate the frequency of psoriatic arthritis in a cohort of patients who consulted for polyarthralgia and to determine the differential features, at the time of clinical presentation, in relation to both patients with final diagnosis other than psoriatic arthritis and patients with diagnosis of rheumatoid arthritis.

Methods: Consecutive patients with polyarthralgia (including arthralgia of the hands) were included. Clinical examination, laboratory tests, ultrasound with power Doppler of both hands, and radiography of both hands and feet were performed at baseline. All patients were followed up and the definitive diagnosis of psoriatic arthritis was established.

Results: A total of 1055 were included, 88 (8.3%) ended with diagnosis of psoriatic arthritis. Diagnosis of psoriatic arthritis was positively associated with a family history of psoriasis (odds ratio=4.14), pso riasis (odds ratio=78.94), radiographic erosions (odds ratio=5.74), and ultrasound with at least 1 joint with positive power Doppler (odds ratio=7.11). In comparison with rheumatoid arthritis patients, diagnosis of psoriatic arthritis was positively associated with psoriasis (odds ratio=433.42) and family history of psoriasis (odds ratio=41.63). On the other hand, it was negatively associated with positivity, for both rheumatoid factor (odds ratio=0.03) and anti-cyclic citrullinated peptide antibodies (odds ratio=0.06).

Conclusion: The frequency of psoriatic arthritis was 8.3% and was associated with a personal and/or family history of psoriasis, radiographic erosions, and inflammatory involvement by Power Doppler Ultrasound (PDUS). In comparison with rheumatoid arthritis patients, psoriatic arthritis was associated with a personal and/or family history of psoriasis, while the presence of both rheumatoid factor and/ or anti-cyclic citrullinated peptide antibodies was shown to be a protective factor for the diagnosis of psoriatic arthritis.

目的:大多数银屑病关节炎患者开始于皮肤银屑病,这就是为什么所有的早期检测策略都是基于皮肤科会诊和风湿病专家转诊的筛查。然而,也有患者最初咨询肌肉骨骼症状,主要是关节疼痛,而不管家族和/或个人牛皮癣病史。本研究旨在评估银屑病关节炎在一组多关节痛患者中的发病率,并确定临床表现时,最终诊断为银屑病关节炎的患者和诊断为类风湿性关节炎的患者之间的差异特征。方法:纳入连续的多关节痛(包括手关节痛)患者。在基线时进行临床检查、实验室检查、双手功率多普勒超声和手脚x线摄影。所有患者均接受随访,明确诊断为银屑病关节炎。结果:共纳入1055例,其中88例(8.3%)诊断为银屑病关节炎。银屑病关节炎的诊断与银屑病家族史(优势比=4.14)、pso皮炎(优势比=78.94)、x线片糜烂(优势比=5.74)以及至少1个关节的超声功率多普勒阳性(优势比=7.11)呈正相关。与类风湿性关节炎患者相比,银屑病关节炎的诊断与银屑病(优势比=433.42)和银屑病家族史(优势比=41.63)呈正相关。另一方面,类风湿因子(比值比=0.03)和抗环瓜氨酸肽抗体(比值比=0.06)均与阳性呈负相关。结论:银屑病关节炎的发生率为8.3%,与个人和/或家族银屑病病史、影像学糜烂和功率多普勒超声(PDUS)的炎症累及有关。与类风湿性关节炎患者相比,银屑病关节炎与个人和/或家族银屑病病史相关,而类风湿因子和/或抗环瓜氨酸肽抗体的存在被证明是银屑病关节炎诊断的保护因素。
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引用次数: 1
Severe Infections in Patients Treated with Tocilizumab for Systemic Diseases Other Than Rheumatoid Arthritis: A Retrospective Multicenter Observational Study. 托珠单抗治疗类风湿性关节炎以外全身性疾病患者的严重感染:一项回顾性多中心观察性研究
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2022.22028
Florent Broca, Odile Souchaud-Debouverie, Evelyne Liuu, Pascal Roblot, Mickaël Martin

Objective: This study aimed to describe severe infections in patients treated with tocilizumab for systemic diseases other than rheumatoid arthritis.

Methods: Data from patients receiving at least 2 doses of tocilizumab for systemic diseases other than rheumatoid arthritis between January 1, 2012, and July 1, 2020, in the region Poitou-Charentes (France) were retrospectively collected from medical records. Psoriatic arthritis and systemic juvenile idiopathic arthritis were also excluded as usually treated with similar modalities to rheumatoid arthritis.

Results: Of 37 patients, mainly suffering from giant cell arteritis, 25 patients (68%) had at least 1 infectious event and 15 severe infections occurred in 6 patients (3.2/100 patient-years), mainly bacterial. Lower respiratory tract and skin were the main sites. Severe bacterial infections were associated with a marked biological inflammatory syndrome, even under a cycle of administration of tocilizumab. Two severe zonas and 1 severe diverticulitis occurred. No tuberculosis or viral hepatitis reactivation was observed.

Conclusion: The incidence rate of severe infections was 3.2/100 patient-years and seems lower than that reported in rheumatoid arthritis. C-reactive protein dosage could be helpful for the diagnosis of bacterial infectious adverse events in patients on tocilizumab. Further larger studies are needed to confirm these results to assess potential risk factors for severe infections.

目的:本研究旨在描述tocilizumab治疗除类风湿关节炎以外的全身性疾病患者的严重感染。方法:回顾性收集2012年1月1日至2020年7月1日在法国普瓦图-夏朗德地区接受至少2剂tocilizumab治疗类风湿性关节炎以外全身性疾病的患者的医疗记录。银屑病关节炎和系统性青少年特发性关节炎也被排除在外,因为它们通常采用与类风湿关节炎相似的治疗方式。结果:37例以巨细胞动脉炎为主的患者中,25例(68%)至少发生1次感染事件,6例(3.2/100患者-年)发生15次严重感染,以细菌性感染为主。下呼吸道和皮肤是主要部位。严重的细菌感染与明显的生物炎症综合征相关,即使在托珠单抗给药周期下也是如此。严重带状疱疹2例,严重憩室炎1例。没有观察到结核病或病毒性肝炎的再激活。结论:严重感染发生率为3.2/100患者-年,似乎低于类风湿关节炎的报道。c -反应蛋白剂量可能有助于托珠单抗患者细菌感染性不良事件的诊断。需要进一步进行更大规模的研究来证实这些结果,以评估严重感染的潜在危险因素。
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引用次数: 1
Factors Associated with Trajectories of Physical Activity Over 8 Years in Knee Osteoarthritis. 膝关节骨性关节炎患者8年以上体力活动轨迹的相关因素
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2022.21155
Jesse C Christensen, Jason T Jakiela, Daniel K White

Objective: The aim of the study was to investigate (1) trajectories of physical activity (PA) over 96 months and (2) study to what extent knee pain, muscle strength, physical function, and radiographic disease were associated with PA trajectories in adults with or at risk of knee osteoarthritis (KOA).

Methods: Using the Osteoarthritis Initiative (OAI) database, we described PA trajectories with the Physical Activity Scale for the Elderly (PASE) over 96 months. Knee pain was categorized into three groups: "no pain" [visual numeric pain rating scale (VAS=0)], "little to some pain" (VAS=1-3), or "moderate to severe pain" (VAS ≥ 4). Knee extensor strength was classified into high [>16.21 (men) and >10.82 (women) N/kg/m2 ] and low [12 seconds) and fast (<12 seconds) groups. Radiographic disease was classified as present [Kellgren-Lawrence (KL) ≥2] or absent (KL grade <2) of KOA.

Results: Among 3755 participants (age 61.0 ± 9.0 years, body mass index 28.5±4.8 kg/m2 , 58% female), we identified three trajectories: sedentary PA with slow decline (44.3%), low PA with slow decline (41.3%), and high PA with slow decline (14.4%). Poorer gait speed (OR: 2.32; 95% CI: 1.71-3.16), chair stand time (OR: 1.45; 95% CI: 1.07-1.96), and knee extensor strength (OR: 1.35; 95% CI: 1.03-1.76), but not pain or radiographic disease, were associated with PA trajectory of sedentary PA with slow decline.

Conclusion: Physical function and strength, but not pain and radiographic disease, were associated with a trajectory of decline in PA among adults with or at risk of KOA.

目的:该研究的目的是调查(1)超过96个月的身体活动(PA)轨迹,(2)研究膝关节疼痛、肌肉力量、身体功能和影像学疾病在多大程度上与膝骨关节炎(KOA)或有风险的成人的PA轨迹相关。方法:使用骨关节炎倡议(OAI)数据库,我们用老年人身体活动量表(PASE)描述了96个月以上的PA轨迹。膝关节疼痛分为三组:“无痛”[视觉数字疼痛评定量表(VAS=0)]、“轻微疼痛”(VAS=1-3)或“中度至重度疼痛”(VAS≥4)。膝关节伸肌强度分为高[>16.21(男性)和>10.82(女性)N/kg/m2]和低[12秒]和快(结果:在3755名参与者中(年龄61.0±9.0岁,体重指数28.5±4.8 kg/m2, 58%女性),我们确定了三种轨迹:久坐PA缓慢下降(44.3%),低PA缓慢下降(41.3%)和高PA缓慢下降(14.4%)。较差的步态速度(OR: 2.32;95% CI: 1.71-3.16),椅子站立时间(OR: 1.45;95% CI: 1.07-1.96)和膝关节伸肌强度(OR: 1.35;95% CI: 1.03-1.76),但与疼痛或影像学疾病无关,与久坐性PA的发展轨迹相关。结论:在患有或有KOA风险的成年人中,身体功能和力量,而不是疼痛和影像学疾病,与PA下降的轨迹相关。
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引用次数: 1
A challenging etiology of myopathy: The late-onset Pompe disease. 一种具有挑战性的肌病病因学:迟发性庞贝病。
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2022.21156
Tuba Yüce İnel, Aydan Köken Avşar, Pelin Teke Kısa, Erdener Özer, İsmail Sarı

Pompe disease is a rare metabolic disorder that is characterized by the deficiency of the acid aglucosidase. As a result, glycogen accumulates in several tissues including motor neurons, skeletal, cardiac, and smooth muscles. The course of the disease varies according to the type of mutations, and the clinical phenotype can be affected by the enzyme levels. Late-onset Pompe disease (LOPD) is a challenging issue for clinicians as it has a milder phenotype with later onset of symptoms and slower disease progression. One of the most important differentials in the diagnosis of LOPD is inflammatory myositis as both diseases have some common clinical and laboratory features. Herein, we presented a 30-year-old female patient initially diagnosed as polymyositis and treated with immunosuppressive therapy without a benefit on her symptoms and later diagnosed as LOPD.

庞贝病是一种罕见的代谢性疾病,其特征是缺乏酸性葡萄糖苷酶。结果,糖原在包括运动神经元、骨骼、心脏和平滑肌在内的几个组织中积累。疾病的病程根据突变的类型而变化,临床表型可受酶水平的影响。迟发性庞贝病(LOPD)对临床医生来说是一个具有挑战性的问题,因为它的表型较轻,症状发作较晚,疾病进展较慢。诊断LOPD最重要的区别之一是炎性肌炎,因为这两种疾病有一些共同的临床和实验室特征。在此,我们报告了一位30岁的女性患者,最初诊断为多发性肌炎,并接受免疫抑制治疗,但症状没有改善,后来被诊断为LOPD。
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引用次数: 0
Incidence of Antiphospholipid Syndrome: Is Estimation Currently Possible? 抗磷脂综合征的发病率:目前是否可能估计?
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2023.22012
Yiannis Ioannou, Timothy Beukelman, Miranda Murray, Doruk Erkan

Antiphospholipid syndrome is a systemic autoimmune disorder characterized by vascular thrombosis and/or obstetric events in association with persistently elevated antiphospholipid antibodies. Antiphospholipid syndrome is typically considered a rare disease, but the true incidence is uncertain owing to the diverse antiphospholipid antibody-related clinical manifestations, inconsistent definitions of antiphospholipid antibody positivity, under-recognition of the disease, and limited population-based studies. Published estimates of the incidence of antiphospholipid syndrome range from approximately 2 to 80 per 100 000 person-years. A targeted literature review and applied methodology were performed to derive a best available estimate. Significant limitations of the published literature were observed, some of which have been previously reported. The incidence of antiphospholipid syndrome in the United States was estimated to be approximately 7.1 to 13.7 per 100 000 person-years in the general population. Although this estimate is likely more accurate than previously reported estimates, large, contemporary, population-based studies that reasonably adhere to the antiphospholipid syndrome classification criteria are needed to further refine estimates of the incidence of antiphospholipid syndrome.

抗磷脂综合征是一种系统性自身免疫性疾病,以血管血栓形成和/或产科事件为特征,与抗磷脂抗体持续升高有关。抗磷脂综合征通常被认为是一种罕见的疾病,但由于抗磷脂抗体相关的临床表现多样,抗磷脂抗体阳性的定义不一致,对该疾病的认识不足,以及基于人群的研究有限,因此真实的发病率尚不确定。已公布的抗磷脂综合征发病率估计范围约为每10万人年2至80例。有针对性的文献回顾和应用的方法进行,以得出最佳的可用估计。观察到已发表文献的显著局限性,其中一些已被先前报道。据估计,美国普通人群中抗磷脂综合征的发病率约为每10万人年7.1至13.7例。尽管这一估计可能比先前报道的估计更准确,但仍需要大规模的、基于人群的、合理坚持抗磷脂综合征分类标准的研究来进一步完善对抗磷脂综合征发病率的估计。
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引用次数: 1
Dual Biologic Therapy in Patients with Familial Mediterranean Fever and Spondyloarthritis: Case-Based Review. 家族性地中海热和脊椎关节炎患者的双重生物治疗:基于病例的回顾。
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/EuJRheum.2022.21180
Derya Yıldırım, Rıza Can Kardaş, Burcugul Özkızıltaş, İbrahim Vasi, Hamit Küçük, Mehmet Akif Öztürk, Abdurrahman Tufan
Patients with familial Mediterranean fever and spondylitis often fail to respond to conventional and biologic therapies. Achieving remission in these patients usually requires conventional and biologic treatment combinations. Combination of biologic agents may be a promising option for patients with familial Mediterranean fever and spondylitis who have refractory disease. Until recently, limited evidence existed regarding the efficacy and safety of this treatment strategy. To address this, our report presented a case series of 4 patients with familial Mediterranean fever and spondylitis who were resistant to standard treatments and in whom remission is achieved only with dual biologic therapy. The authors also conducted a literature search for studies that reported dual biological therapy in inflammatory diseases.
家族性地中海热和脊柱炎患者通常对常规和生物治疗无效。这些患者的缓解通常需要常规治疗和生物治疗相结合。对于难治性疾病的家族性地中海热和脊柱炎患者,联合使用生物制剂可能是一个有希望的选择。直到最近,关于这种治疗策略的有效性和安全性的证据有限。为了解决这个问题,我们的报告提出了4例家族性地中海热和脊柱炎患者的病例系列,这些患者对标准治疗有耐药性,只有通过双重生物治疗才能缓解。作者还对报道炎症性疾病双重生物治疗的研究进行了文献检索。
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引用次数: 2
期刊
European journal of rheumatology
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