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Anti-N-methyl-d-aspartate receptor encephalitis: mimicker of lupus and multiple sclerosis. 抗 N-甲基-d-天冬氨酸受体脑炎:狼疮和多发性硬化症的模仿者。
IF 1.4 Q4 RHEUMATOLOGY Pub Date : 2023-12-19 DOI: 10.4081/reumatismo.2023.1598
N Sanghavi, B Ayesha

Anti-N-methyl-d-aspartate receptor encephalitis (NMDARE) is a B-cell-mediated autoimmune encephalitis with wide non-specific symptoms like acute-onset psychiatric or neurological ones mimicking various other conditions. A careful history and appropriate workup, including cerebrospinal fluid analysis for anti-NMDAR antibodies, imaging, and electroencephalogram, should be conducted, considering all differential diagnoses that can mimic its presentation. Combination therapy with high-dose steroids, plasma exchange, or immunoglobulin therapy has been shown to be more efficacious. In patients who fail first-line therapy, rituximab or cyclophosphamide should be considered. It is essential to rule out ovarian teratoma or other occult malignancies that can cause NMDARE, as removal of the tumor itself resolves this condition. Timely diagnosis and early intervention are necessary to avoid an untoward outcome.

抗 N-甲基-d-天冬氨酸受体脑炎(NMDARE)是一种由 B 细胞介导的自身免疫性脑炎,具有广泛的非特异性症状,如急性发作的精神或神经症状,可模拟各种其他疾病。应仔细询问病史并进行适当的检查,包括脑脊液抗 NMDAR 抗体分析、影像学检查和脑电图检查,同时考虑所有可能与该病表现相似的鉴别诊断。大剂量类固醇、血浆置换或免疫球蛋白疗法的联合治疗已被证明更为有效。对于一线治疗失败的患者,应考虑使用利妥昔单抗或环磷酰胺。必须排除卵巢畸胎瘤或其他可能导致 NMDARE 的隐匿性恶性肿瘤,因为切除肿瘤本身就能解决这种病症。及时诊断和早期干预是避免不良后果的必要条件。
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引用次数: 0
Ultrasound imaging in crystal arthropathies: a pictorial review. 晶体关节病的超声成像:图解综述。
IF 1.4 Q4 RHEUMATOLOGY Pub Date : 2023-12-19 DOI: 10.4081/reumatismo.2023.1583
G Tamborrini, T Hügle, V Ricci, G Filippou

Objective: The prevalence of crystal arthropathies in the general population is rising. The purpose of this pictorial study is to describe the sonographic elements of the most prevalent crystal arthropathies by emphasizing particular sonographic findings using illustrative images and cases while considering technical details and common pitfalls.

Methods: Using established recommendations, specialists in the fields of sonography and crystal arthropathies agreed by consensus on the unique ultrasound signs associated with each of the conditions.

Results: Gout, calcium pyrophosphate deposition arthropathy, and hydroxyapatite arthropathy are the three most prevalent crystal arthropathies. Today's high-resolution sonography enables reliable evaluation of the underlying crystal deposits, post-inflammatory changes, and a precise description of joint inflammation.

Conclusions: High-prevalence crystal arthropathies are reliably detectable by ultrasound with current ultrasound equipment. It is necessary to have extensive ultrasound training, know specific sonographic findings, and understand all possible differential diagnoses for disorders affecting the musculoskeletal system.

目的:晶体关节病在普通人群中的发病率正在上升。本图解研究的目的是通过使用说明性图像和病例来强调特定的声像图发现,同时考虑技术细节和常见误区,从而描述最常见晶体关节病的声像图要素:方法:超声造影和晶体性关节病领域的专家采用既定建议,就与每种疾病相关的独特超声征象达成共识:结果:痛风、焦磷酸钙沉积性关节病和羟基磷灰石关节病是三种最常见的晶体性关节病。当今的高分辨率超声造影术能够可靠地评估晶体沉积的基础、炎症后的变化以及关节炎症的精确描述:结论:目前的超声设备可以可靠地通过超声检查出高发病率的晶体性关节病。有必要进行广泛的超声波培训,了解具体的超声波检查结果,并了解影响肌肉骨骼系统疾病的所有可能的鉴别诊断。
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引用次数: 0
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis recurrence temporally associated with allergen-specific immunotherapy in a female adolescent: a case report. 与过敏原特异性免疫疗法相关的女性青少年周期性发热、口腔炎、咽炎和宫颈腺炎复发:病例报告。
IF 1.4 Q4 RHEUMATOLOGY Pub Date : 2023-12-19 DOI: 10.4081/reumatismo.2023.1594
C Granjo Morais, A Martins, S Ganhão, F Aguiar, M Rodrigues, I Brito

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in pediatric patients. It is clinically characterized by fever flares lasting 3-7 days, reappearing every 2-8 weeks with a distinctive clockwork regularity. PFAPA generally begins before 5 years of age and usually ceases 3-5 years after onset. Recurrences may be observed in adolescence and adulthood in up to 20% of cases. The authors aim to describe a case of PFAPA recurrence in adolescence temporally associated with allergen-specific immunotherapy (ASIT). A 16-year-old female patient was referred to the rheumatology unit due to recurrent episodes of fever one month after initiating ASIT for allergic rhinitis. These episodes occurred every 4 weeks and lasted 3 days. During these episodes, she also presented with a sore throat, tonsillar exudates, and cervical lymphadenopathy. Abortive treatment with oral prednisolone was attempted in these episodes, with complete resolution of fever after a single dose. After reviewing her medical background, she had previously experienced febrile episodes accompanied by aphthous ulcers and tonsillar exudates occurring every 7-8 weeks from age 2-7. The etiopathogenesis of PFAPA remains uncertain. Environmental triggers, particularly those with immunomodulator effects, may interfere with the immune responses responsible for PFAPA occurrence, but the mechanisms are still unclear. The authors describe the first report of the reappearance of PFAPA flares, possibly due to ASIT. Further studies are needed to fully clarify if ASIT constitutes a true environmental trigger of PFAPA.

周期性发热、口腔炎、咽炎和颈腺炎(PFAPA)综合征是儿科最常见的周期性发热综合征。其临床特点是发热持续 3-7 天,每隔 2-8 周复发一次,有明显的发条规律。PFAPA 一般在 5 岁前发病,通常在发病 3-5 年后停止。多达 20% 的病例会在青春期和成年期复发。作者旨在描述一例与过敏原特异性免疫疗法(ASIT)相关的青春期 PFAPA 复发病例。一名 16 岁的女性患者因过敏性鼻炎开始接受 ASIT 治疗一个月后反复发烧而被转诊至风湿病科。这些症状每 4 周发作一次,持续 3 天。发作期间,她还伴有咽喉痛、扁桃体渗出物和颈淋巴结病。在这些症状发作时,她曾尝试口服泼尼松龙进行缓解治疗,单次用药后发热完全退去。在回顾了她的医疗背景后,她曾在 2-7 岁期间每隔 7-8 周发热一次,并伴有阿弗他溃疡和扁桃体渗出。PFAPA 的发病机制仍不确定。环境诱因,尤其是具有免疫调节作用的环境诱因,可能会干扰导致 PFAPA 发生的免疫反应,但其机制仍不清楚。作者首次报道了 PFAPA 复发可能是 ASIT 引起的。要完全弄清 ASIT 是否是 PFAPA 的真正环境诱因,还需要进一步的研究。
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引用次数: 0
Anti-tumor necrosis factor α: originators versus biosimilars, comparison in clinical response assessment in a multicenter cohort of patients with inflammatory arthropathies. 抗肿瘤坏死因子α:原研药与生物仿制药,炎症性关节病多中心队列临床反应评估比较。
IF 1.4 Q4 RHEUMATOLOGY Pub Date : 2023-12-19 DOI: 10.4081/reumatismo.2023.1602
C Gioia, A Picchianti Diamanti, R Perricone, M S Chimenti, A Afeltra, L Navarini, A Migliore, U Massafra, V Bruzzese, P Scolieri, C Meschini, M Paroli, R Caccavale, P Scapato, R Scrivo, F Conti, B Laganà, M Di Franco

Objective: To compare etanercept and adalimumab biosimilars (SB4 and ABP501) and respective bioriginators in terms of safety and efficacy in a real-life contest.

Methods: We consequently enrolled patients affected by rheumatoid arthritis, psoriatic arthritis, and ankylosing spondylitis, treated with SB4, and ABP501, or with corresponding originators, belonging to the main biological prescribing centers in the Lazio region (Italy), from 2017 to 2020. Data were collected at recruitment and after 4, 8, 12, and 24 months of therapy.

Results: The multicenter cohort was composed by 455 patients treated with biosimilars [SB4/ABP501 276/179; female/male 307/146; biologic disease-modifying anti-rheumatic drug (b-DMARD) naïve 56%, median age/ interquartile range 55/46-65 years] and 436 treated with originators (etanercept/adalimumab 186/259, female/ male 279/157, b-DMARD naïve 67,2%, median age/interquartile range 53/43-62 years). No differences were found about safety, but the biosimilar group presented more discontinuations due to inefficacy (p<0.001). Female gender, being a smoker, and being b-DMARD naïve were predictive factors of reduced drug survival (p=0.05, p=0.046, p=0.001 respectively). The retention rate at 24 months was 81.1% for bioriginators and 76.5% for biosimilars (median retention time of 20.7 and 18.9 months, respectively) (p=0.002). Patients with remission/low disease activity achievement at 4 months showed a cumulative survival of 90% to biosimilar therapy until 24 months (p=0.001); early adverse reactions instead represented a cause of subsequent drug discontinuation (p=0.001).

Conclusions: Real-life data demonstrated a similar safety profile between biosimilars and originators, but a reduced biosimilar retention rate at 24 months. Biosimilars could be considered a valid, safe, and less expensive alternative to originators, allowing access to treatments for a wider patient population.

目的比较依那西普(etanercept)和阿达木单抗(adalimumab)生物仿制药(SB4和ABP501)与各自生物原研药在现实生活中的安全性和有效性:因此,我们在 2017 年至 2020 年期间招募了类风湿性关节炎、银屑病关节炎和强直性脊柱炎患者,他们接受了 SB4 和 ABP501 或相应原研药的治疗,这些患者均属于拉齐奥大区(意大利)的主要生物处方中心。在招募时以及治疗4、8、12和24个月后收集数据:多中心队列由455名接受生物仿制药治疗的患者组成[SB4/ABP501 276/179;女性/男性 307/146;年龄中位数/四分位数范围55/46-65岁]和436名接受原研药治疗的患者(etanercept/adalimumab 186/259,女性/男性279/157,年龄中位数/四分位数范围53/43-62岁,67.2%接受过生物修饰抗风湿药(b-DMARD)治疗)。在安全性方面没有发现差异,但生物仿制药组因疗效不佳而停药的情况较多(p 结论:真实数据表明,生物仿制药与原研药的安全性相似,但生物仿制药在 24 个月内的保留率较低。生物仿制药可被视为原研药的一种有效、安全且成本较低的替代品,使更多患者能够获得治疗。
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引用次数: 0
Infliximab as successful treatment option in a case of adenosine deaminase 2 deficiency. 英夫利西单抗成功治疗一例腺苷脱氨酶 2 缺乏症。
IF 1.4 Q4 RHEUMATOLOGY Pub Date : 2023-12-19 DOI: 10.4081/reumatismo.2023.1543
M B Ates, S Karup, S Ugurlu

Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited autoinflammatory disease characterized by systemic inflammation and immunodeficiency. Infliximab proved to be favorable in the treatment of this condition. This case report is concerned with a DADA2 deficient patient treated with infliximab. This is a rare case of DADA2 in a 32-year-old female patient. The patient was admitted with a clinical presentation of erythema, ulcers, and pruritus on both legs and ankles, accompanied by red ulcerative oral lesions, fatigue, malaise, and dizziness. The patient's genetic analysis was positive for DADA2. Treatment based on TNF-α inhibition was highly effective for this patient. We used laboratory testing and punch biopsy as differential diagnostic tools, where antinuclear antibody positivity, high prolactin levels, and high serum C-reactive protein were observed. The punch biopsy revealed both orthohyperkeratosis and parahyperkeratosis of the dermis, diffuse core fragments, plasma in the stratum corneum, and hypergranulous acanthosis. DADA2 treatment is centered on tumor necrosis factor α suppression. Although high-dose systemic glucocorticoids can reduce inflammation in the initial stages of the disease, most patients have a resistant or relapsing response to tapering attempts. The prevalence of undiagnosed cases of autoinflammatory diseases is anticipated to diminish with the growing awareness of them.

腺苷脱氨酶 2 缺乏症(DADA2)是一种隐性遗传的自身炎症性疾病,以全身炎症和免疫缺陷为特征。事实证明,英夫利西单抗(Infliximab)对治疗这种疾病很有帮助。本病例报告涉及一名接受英夫利昔单抗治疗的 DADA2 缺乏症患者。这是一例罕见的 32 岁女性 DADA2 缺乏症患者。患者入院时临床表现为双腿和脚踝红斑、溃疡和瘙痒,伴有口腔红色溃疡性病变、乏力、倦怠和头晕。患者的基因分析结果显示,DADA2呈阳性。基于 TNF-α 抑制剂的治疗对该患者非常有效。我们使用实验室检测和穿刺活检作为鉴别诊断工具,观察到抗核抗体阳性、催乳素水平高和血清C反应蛋白高。打孔活检显示真皮层有正角化和副角化、弥漫性核心碎片、角质层有血浆和棘层增生。DADA2 的治疗以抑制肿瘤坏死因子 α 为中心。虽然大剂量全身糖皮质激素可在疾病初期减轻炎症反应,但大多数患者对减量尝试有抵抗或复发反应。随着人们对自身炎症性疾病认识的不断提高,未确诊的自身炎症性疾病的发病率预计将有所下降。
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引用次数: 0
Eosinophilic granulomatosis with polyangiitis: sequential use of mepolizumab following rituximab for inadequate asthma control despite vasculitis remission. 嗜酸性粒细胞肉芽肿伴多血管炎:在利妥昔单抗治疗血管炎缓解但哮喘控制不佳的情况下,连续使用美妥珠单抗。
IF 1.4 Q4 RHEUMATOLOGY Pub Date : 2023-12-19 DOI: 10.4081/reumatismo.2023.1588
B Cremonezi Lammoglia, L De Aguiar Trevise, T Paslar Leal, M Pereira Lopes Vieira Pinto, G Hasselmann, N Salles Rosa Neto

We report the case of a 54-year-old woman with antineutrophilic cytoplasmic antibody-negative eosinophilic granulomatosis with polyangiitis presenting with mononeuritis multiplex, intestinal hemorrhage, cardiomyopathy, fever, and worsening asthma symptoms. She was initially treated with steroids and cyclophosphamide but eventually required rituximab to control a vasculitis flare. However, her asthmatic symptoms did not improve, despite attaining vasculitis remission. Symptoms abated only after the treatment transition to mepolizumab. After a 1-year interval, there were no further episodes of asthma exacerbation and no requirement for systemic steroid therapy. This report reinforces the use of rituximab for induction and maintenance of remission in patients with eosinophilic granulomatosis with polyangiitis and predominant vasculitic manifestations, whereas mepolizumab demonstrated better control of the persistent eosinophilic manifestations, ensuing sustained remission and improved quality of life.

我们报告了一例 54 岁女性患者的病例,她患有抗中性粒细胞胞浆抗体阴性的嗜酸性粒细胞肉芽肿伴多血管炎,并伴有单神经炎、肠出血、心肌病、发热和哮喘症状恶化。她最初接受了类固醇和环磷酰胺治疗,但最终需要利妥昔单抗来控制血管炎复发。然而,尽管血管炎得到了缓解,她的哮喘症状却没有得到改善。在转用甲泼尼单抗治疗后,症状才有所缓解。时隔一年后,她的哮喘没有再加重,也不再需要全身性类固醇治疗。这份报告强化了利妥昔单抗在嗜酸性粒细胞肉芽肿伴多血管炎和主要血管炎表现患者中的诱导和维持缓解作用,而麦博利珠单抗则能更好地控制持续性嗜酸性粒细胞表现,从而实现持续缓解并改善生活质量。
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引用次数: 0
Lumbosacral pain in a patient with psoriatic arthritis: when the rheumatic disease is innocent. 银屑病关节炎患者的腰骶部疼痛:当风湿病是无辜的。
IF 1.4 Q4 RHEUMATOLOGY Pub Date : 2023-12-19 DOI: 10.4081/reumatismo.2023.1565
H Parente, M Pontes Ferreira, C Soares, F Guimarães, S Azevedo, D Santos-Faria, J Tavares-Costa, D Peixoto, C Afonso, D Roriz, F Teixeira

Lumbar pain is a very common symptom that derives from benign musculoskeletal conditions, rheumatic inflammatory diseases, neoplasms, and referred and/or nociplastic pain. A 70-year-old man with psoriatic arthritis presented with early-onset lumbosacral pain without evident red flags. Symptomatic treatment was unhelpful. Radiographic imaging showed subtle signs of a disease that could easily be missed. Magnetic resonance imaging revealed a massive prostatic malignancy with bone (sacral and iliopubic) metastasis. Awareness must be given not to disregard every lumbar pain as part of the preexisting rheumatic inflammatory disease (spondyloarthropathy in this case) or a common muscle/ligament/articular disarrangement. Persistence of pain, albeit not inflam-matory nor sharp in nature, despite adequate treatment might be just as important as an acute red flag and requires proper follow-up.

腰痛是一种非常常见的症状,可由良性肌肉骨骼疾病、风湿性炎症疾病、肿瘤以及转归痛和/或神经痛引起。一名患有银屑病关节炎的 70 岁男子早期出现腰骶部疼痛,但无明显征兆。对症治疗无效。放射影像学检查显示出很容易被漏诊的细微病症。磁共振成像显示该患者患有巨大的前列腺恶性肿瘤,并伴有骨(骶骨和髂骨)转移。必须注意,不要把每次腰痛都看作是原有风湿性炎症(本例中为脊柱关节病)或常见肌肉/韧带/关节紊乱的一部分。尽管经过充分治疗,但疼痛仍持续存在,尽管不是炎症性的,也不是尖锐的,这可能与急性红旗一样重要,需要进行适当的随访。
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引用次数: 0
Janus kinase inhibitors: between prescription authorization and reimbursability. Janus 激酶抑制剂:处方授权与报销之间的关系。
IF 1.4 Q4 RHEUMATOLOGY Pub Date : 2023-12-19 DOI: 10.4081/reumatismo.2023.1627
F R Spinelli, F Conti, R Caporali, F Iannone, F Cacciapaglia, On Behalf Of The Steering Committee Of The Italian Society Of Rheumatology

Following the restrictions on the reimbursability of Janus kinase inhibitors introduced by the Italian Medicines Agency, the Italian Society of Rheumatology has drafted this document to shed light on the clinical conditions and reimbursability criteria set out in the prescription forms.

在意大利药品管理局对 Janus 激酶抑制剂的可报销性进行限制之后,意大利风湿病学会起草了本文件,以阐明处方中规定的临床条件和可报销性标准。
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引用次数: 0
Acquired hemophilia A treated with rituximab in a 62-year-old female with rheumatoid arthritis: a case-based review. 一名患有类风湿性关节炎的 62 岁女性用利妥昔单抗治疗获得性血友病 A:病例回顾。
IF 1.4 Q4 RHEUMATOLOGY Pub Date : 2023-12-19 DOI: 10.4081/reumatismo.2023.1585
D Mohamadzadeh, S Assar, F Farsad

Acquired hemophilia A (AHA) is a rare autoimmune disorder with unpredictable hemostasis that is caused by autoantibody formation against coagulation factor VIII. AHA can occur in the context of autoimmune inflammatory rheumatic disorders. Here we report the case of a 62-year-old female with an 11-year history of rheumatoid arthritis (RA) who presented with cutaneous and mucosal bleeding. Activated partial thromboplastin time was prolonged and not corrected by the mixing test. Factor VIII activity was decreased, and the anti-factor VIII antibody was positive. AHA associated with RA was diagnosed. The patient was treated with rituximab 500 mg weekly for 4 doses and prednisolone 10 mg/daily. The patient did not experience bleeding events after treatment, and factor VIII activity and inhibitor normalized. At the end of the article, we discuss similar cases of RA-associated AHA.

获得性血友病 A(AHA)是一种罕见的自身免疫性疾病,它是由针对凝血因子 VIII 的自身抗体形成引起的,具有不可预测的止血功能。AHA 可在自身免疫性炎症性风湿病的背景下发生。在此,我们报告了一例 62 岁女性患者的病例,她有 11 年的类风湿性关节炎(RA)病史,并出现皮肤和粘膜出血。活化部分凝血活酶时间延长,且无法通过混合试验得到纠正。因子 VIII 活性降低,抗因子 VIII 抗体呈阳性。确诊为与 RA 相关的 AHA。患者接受了利妥昔单抗治疗,每周 500 毫克,共 4 次,泼尼松龙 10 毫克/天。治疗后,患者未发生出血事件,因子 VIII 活性和抑制因子恢复正常。在文章的最后,我们将讨论类似的 RA 相关 AHA 病例。
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引用次数: 0
Can restless legs be a sign of something else? A case report of spondyloarthritis presenting with restless legs syndrome and a review of the literature. 不安腿会是其他疾病的征兆吗?脊柱关节炎伴有不安腿综合征的病例报告及文献综述。
IF 1.4 Q4 RHEUMATOLOGY Pub Date : 2023-12-19 DOI: 10.4081/reumatismo.2023.1557
E Yılmaz

Restless legs syndrome (RLS) is a chronic movement disorder characterized by an urge or need to move the limbs, usually associated with uncomfortable sensations in the legs and sleep disorders. In general, two clinical forms of RLS are described: primary and secondary. Although primary RLS has a familial component, the underlying mechanism is still not fully understood but seems to be related to abnormalities in the dopaminergic and glutamatergic pathways of the central nervous system. The secondary forms of the syndrome are associated with iron deficiency, renal failure, pregnancy, diabetes mellitus, peripheral neuropathy, and several rheumatologic disorders such as rheumatoid arthritis and Sjögren's syndrome. In a few clinical trials, an increased frequency of RLS has been reported in patients with spondyloarthritis. In this report, a case of coexistence of spondyloarthritis and RLS is presented, showing satisfactory improvement with conservative treatment and additionally adding naproxen. Anemia of chronic disease occurring in rheumatic diseases, and associated iron deficiency may contribute to the development of RLS.

不宁腿综合症(RLS)是一种慢性运动障碍,其特征是有移动四肢的冲动或需要,通常伴有腿部不舒服的感觉和睡眠障碍。一般来说,RLS 有两种临床形式:原发性和继发性。虽然原发性 RLS 有家族遗传因素,但其潜在机制仍不完全清楚,但似乎与中枢神经系统的多巴胺能和谷氨酸能通路异常有关。该综合征的继发性形式与缺铁、肾功能衰竭、妊娠、糖尿病、周围神经病变以及一些风湿性疾病(如类风湿性关节炎和斯约格伦综合征)有关。在一些临床试验中,脊柱关节炎患者发生 RLS 的频率有所增加。本报告介绍了一例同时患有脊柱关节炎和 RLS 的病例,该病例在接受保守治疗和加用萘普生后病情得到了满意的改善。风湿性疾病中出现的慢性贫血和相关的缺铁可能会导致 RLS 的发生。
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引用次数: 0
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