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Diagnostic role of minor salivary glands biopsy in Sjögren's syndrome: correlations between histology and autoimmunity in a large, monocentric cohort. 小唾液腺活检在Sjögren综合征中的诊断作用:在一个大型单中心队列中组织学和自身免疫之间的相关性
Q3 RHEUMATOLOGY Pub Date : 2023-01-01 DOI: 10.5114/reum/163213
Edoardo Conticini, Marco Bardelli, Antonio Vitale, Renato De Stefano, Paolo Falsetti, Enrico Selvi, Maria Romana Bacarelli, Roberto D'Alessandro, Luca Cantarini, Bruno Frediani, Stefano Gentileschi

Introduction: Based on ACR/EULAR classification criteria, minor salivary glands biopsy (MSGB) is a useful diagnostic tool for the diagnosis of primary Sjögren's syndrome (SS). The main objective of our study was to evaluate the diagnostic role of MSGB, as well as to highlight correlations between histological findings and autoimmune profiles.

Material and methods: We retrospectively evaluated histological and autoimmunity data from patients who underwent MSGB in our department in cases of suspected SS, from March 2011 to December 2018. Salivary gland samples were evaluated using Chisholm and Mason (CM) grading and the focus score (FS).

Results: A total of 1,264 patients (108 males, 1,156 females) were included. The median age was 55.22 ±13.51 years (range: 15-87). In univariate binary logistic regression, CM ≥ 3 and FS ≥ 1 were significantly predicted by antinuclear antibodies (ANA), anti-extractable nuclear antigens (ENA) and anti-Ro/SSA titer as well as anti-La/SSB, anti-Ro/SSA, rheumatoid factor (RF) and anti-citrullinated protein antibodies (ACPA) positivity. In multivariate analysis, CM ≥ 3 and MSGB positivity were significantly associated with ANA titer; FS ≥ 1 was not associated with laboratory findings. A positive biopsy was associated with laboratory findings, as ANA and ENA titers, anti-Ro/SSA, anti-La/SSB, RF and ACPA positivity may discriminate patients with SS-related histological findings.

Conclusions: Minor salivary glands biopsy is a useful tool to diagnose SS in cases of highly suggestive clinical symptoms but in the absence of a specific autoimmunity.

基于ACR/EULAR分类标准,小涎腺活检(MSGB)是诊断原发性Sjögren综合征(SS)的有用诊断工具。本研究的主要目的是评估MSGB的诊断作用,以及强调组织学结果与自身免疫特征之间的相关性。材料和方法:我们回顾性评估2011年3月至2018年12月在我科接受MSGB的疑似SS患者的组织学和自身免疫数据。采用Chisholm and Mason (CM)分级和focus评分(FS)对唾液腺样本进行评价。结果:共纳入1264例患者,其中男性108例,女性1156例。中位年龄55.22±13.51岁(范围15 ~ 87岁)。单因素二元logistic回归分析显示,抗核抗体(ANA)、抗可提取核抗原(ENA)、抗ro /SSA滴度以及抗la /SSB、抗ro /SSA、类风湿因子(RF)和抗瓜氨酸蛋白抗体(ACPA)阳性对CM≥3和FS≥1有显著预测作用。多因素分析显示,CM≥3、MSGB阳性与ANA滴度显著相关;FS≥1与实验室结果无关。活检阳性与实验室结果相关,因为ANA和ENA滴度、抗ro /SSA、抗la /SSB、RF和ACPA阳性可以区分ss相关组织学结果的患者。结论:在没有特异性自身免疫的情况下,小唾液腺活检是诊断SS的有效工具。
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引用次数: 0
Update on neuromonitoring procedures applied during surgery of the spine - observational study. 脊柱手术中应用的神经监测程序的最新进展-观察性研究。
Q3 RHEUMATOLOGY Pub Date : 2023-01-01 DOI: 10.5114/reum/160209
Przemysław Daroszewski, Anna Garasz, Juliusz Huber, Katarzyna Kaczmarek, Piotr Janusz, Paweł Główka, Marek Tomaszewski, Tomasz Kotwicki

Introduction: Motor evoked potentials (MEPs) are currently considered as a more useful method for neurophysiological intraoperative monitoring than somatosensory evoked potentials in cases of surgery applied to patients with adolescent idiopathic scoliosis. The non-invasive approach is preferred to modify MEP recordings, criticizing, in many cases, the fundamentalism for neurophysiological monitoring based only on needle recordings. The aim of the review is to provide our own experience and practical guidelines with reference to neuromonitoring innovations.

Material and methods: Recordings of MEPs with surface electrodes instead of needle electrodes including nerve instead of muscle combinations during neurophysiological monitoring associated with surgical interventions to the spine have become more relevant for pediatric purposes, avoiding the anesthesiology-related influences. Observations on 280 patients with Lenke A-C types of spine curvature are presented before and after the surgical correction.

Results: The MEPs recorded from nerves do not undergo fluctuations at different stages of scoliosis corrections and the anesthesia effect more than MEPs recorded from muscles. The use of non-invasive surface electrodes during neuromonitoring for MEP recordings shortens the total time of the surgical procedure without diminishing the precision of the neural transmission evaluation. The quality of MEP recordings during intraoperative neuromonitoring from muscles can be significantly influenced by the depth of anesthesia or administration of muscle relaxants but not those recorded from nerves.

Conclusions: The proposed definition of "real-time" neuromonitoring comprises the immediate warning from a neurophysiologist about the changes in a patient's neurological status during scoliosis surgery (especially during pedicle screws' implantation, corrective rods' implantation, correction, distraction and derotation of the spine curvature) exactly during the successive steps of corrective procedures. This is possible due to the simultaneous observation of MEP recordings and a camera image of the surgical field. This procedure clearly increases safety and limits financial claims resulting from possible complications.

在青少年特发性脊柱侧凸的手术中,运动诱发电位(MEPs)被认为是一种比体感诱发电位更有用的术中神经生理监测方法。在许多情况下,非侵入性方法更倾向于修改MEP记录,批评仅基于针记录的神经生理监测的原教旨主义。回顾的目的是提供我们自己的经验和实用指南,参考神经监测的创新。材料和方法:在与脊柱手术干预相关的神经生理监测期间,用表面电极而不是针电极记录mep,包括神经而不是肌肉组合,已变得与儿科目的更相关,避免了麻醉相关的影响。本文报道了280例Lenke A-C型脊柱弯曲患者手术矫正前后的观察结果。结果:神经记录的mep在脊柱侧凸矫正的不同阶段没有波动,麻醉效果优于肌肉记录的mep。在MEP记录的神经监测过程中,使用非侵入性表面电极缩短了手术过程的总时间,而不会降低神经传递评估的精度。术中肌肉神经监测中MEP记录的质量会受到麻醉深度或肌肉松弛剂施用的显著影响,但对神经记录的质量没有影响。结论:拟议的“实时”神经监测的定义包括神经生理学家在脊柱侧凸手术期间(特别是在椎弓根螺钉植入、矫正棒植入、矫正、牵张和脊柱弯曲旋转期间)对患者神经状态变化的即时警告。这是可能的,因为同时观察MEP记录和手术野的相机图像。这一程序显然提高了安全性,并限制了因可能的并发症而引起的经济索赔。
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引用次数: 2
Patient satisfaction with medication in rheumatoid arthritis: an unmet need. 类风湿关节炎患者对药物治疗的满意度:一个未满足的需求。
Q3 RHEUMATOLOGY Pub Date : 2023-01-01 DOI: 10.5114/reum/161575
Saoussen Miladi, Wiem Belhadj, Hiba Boussaa, Makhlouf Yasmine, Zakraoui Leith, Kawther Ben Abdelghani, Alia Fazaa, Ahmed Laatar

Introduction: Shared decision-making between rheumatologists and patients has become an overarching principle in current treatment recommendations in rheumatoid arthritis (RA). Therefore, in the present study, we aimed to assess the satisfaction of patients with RA with their treatment and to investigate the associated factors.

Material and methods: A cross-sectional study was carried out in the Rheumatology Department of Mongi Slim Hospital. We included adults with RA receiving their current disease-modifying anti-rheumatic drugs for at least 12 months.Satisfaction among patients was assessed by the Treatment Satisfaction Questionnaire for Medication (TSQM) and it was defined by a score ≥ 80%. The factors indirectly influencing patient satisfaction that were assessed were: satisfaction with medical care management, disease activity, functional impact, professional impact, and the impact of RA. Multivariable regression analysis was applied to determine the predictors of satisfaction.

Results: We included 70 patients (63 female/7 male) with a mean age of 57.8 ±10.6 years. The mean disease duration was 13.71 ±7.2 years.Mean TSQM scores were 65.42 ±14.77 for convenience, 68.71 ±18 for effectiveness, 70.60 ±24.5 for side effects, and 67.95 ±17.10 for global satisfaction. Satisfaction rates were: 20% for convenience, 39% for effectiveness, 46% for side effects and 30% for global satisfaction.In multivariable analysis, the predictors of global dissatisfaction were Rheumatoid Arthritis Impact of Disease (RAID) overall score (p = 0.003) and the degree of physical difficulties (p = 0.001). Satisfaction with the physician was correlated with better global satisfaction (p = 0.029). Difficulties in adapting to RA (p = 0.043) and current treatment with biologics (p = 0.027) were predictors of dissatisfaction with convenience. Predictors of dissatisfaction with efficiency were the RAID overall score (p = 0.032) and the difficulties of adapting to RA (p = 0.013). The predictors of satisfaction with side effects were a lower degree of interference with domestic work (p = 0.02) and better involvement of the patient in the treatment decision (p = 0.014).

Conclusions: The satisfaction with the attending physician, the participation in the treatment decision, and the impact of RA seem to influence treatment satisfaction the most. These data suggest that a better understanding of patients' medical needs and preferences would improve satisfaction outcomes.

风湿病学家和患者之间的共同决策已成为目前类风湿关节炎(RA)治疗建议的首要原则。因此,在本研究中,我们旨在评估RA患者对其治疗的满意度,并探讨相关因素。材料与方法:横断面研究在蒙古斯林医院风湿病科进行。我们纳入了接受当前改善疾病的抗风湿药物治疗至少12个月的成人RA患者。采用药物治疗满意度问卷(TSQM)评估患者满意度,评分≥80%。间接影响患者满意度的因素被评估为:对医疗护理管理的满意度、疾病活动性、功能影响、专业影响和RA的影响。采用多变量回归分析确定满意度的预测因子。结果:纳入70例患者(女性63例/男性7例),平均年龄57.8±10.6岁。平均病程13.71±7.2年。TSQM评分中,便利性评分为65.42±14.77,有效性评分为68.71±18,副作用评分为70.60±24.5,整体满意度评分为67.95±17.10。满意度为:方便性20%,有效性39%,副作用46%,整体满意度30%。在多变量分析中,总体不满意度的预测因子是类风湿关节炎疾病影响(Rheumatoid Arthritis Impact of Disease, RAID)总分(p = 0.003)和身体困难程度(p = 0.001)。对医生的满意度与更好的整体满意度相关(p = 0.029)。适应RA的困难(p = 0.043)和目前使用生物制剂的治疗(p = 0.027)是对便利性不满意的预测因素。对效率不满意的预测因子是RAID总分(p = 0.032)和适应RA的困难(p = 0.013)。不良反应满意度的预测因子为对家务的干扰程度较低(p = 0.02)和患者更好地参与治疗决策(p = 0.014)。结论:对主治医师的满意度、对治疗决策的参与程度、对RA的影响程度对治疗满意度影响最大。这些数据表明,更好地了解患者的医疗需求和偏好将提高满意度结果。
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引用次数: 0
Systemic sclerosis and rheumatoid arthritis overlap syndrome - management of severe cardiac, pulmonary and articular involvement. 系统性硬化症和类风湿关节炎重叠综合征-严重心脏、肺和关节受累的管理。
Q3 RHEUMATOLOGY Pub Date : 2023-01-01 DOI: 10.5114/reum/161299
Ana Sofia Pinto, Filipe Cunha Santos, Sara Paiva Dinis, Nathalie Madeira, Joana Fonseca Ferreira, Claúdia Vaz
Introduction The presence of another rheumatological condition in patients with systemic sclerosis (SSc) is not uncommon. To report a case of a patient with SSc-RA overlap and perform a review of the cases reported in the literature. Material and methods A chart review of the present case report was performed. After, we performed a literature search in MEDLINE, EMBASE and Cochrane databases. Results We included 26 articles. Sixty-three patients were reviewed, 51 were female with a mean age of 45.03 years at the time of the first diagnosis. Sixty-three patients were diagnosed with limited cutaneous SSc. Regarding organ involvement, the most frequently reported were cutaneous, vascular, pulmonary and gastrointestinal involvement. Erosions were presenting 65.08% of patients. A panoply of treatments was used. Conclusions The authors concluded that screening for an associated disease should be encouraged since the overlap with SSc may affect prognosis and treatment.
在系统性硬化症(SSc)患者中存在另一种风湿病并不罕见。报告一例伴有SSc-RA重叠的患者,并对文献报道的病例进行回顾。材料和方法:对本病例报告进行图表回顾。之后,我们在MEDLINE、EMBASE和Cochrane数据库中进行文献检索。结果:我们纳入了26篇文章。本文回顾了63例患者,其中女性51例,首次诊断时平均年龄45.03岁。63例患者被诊断为局限性皮肤SSc。至于器官受累,最常报道的是皮肤、血管、肺和胃肠道受累。65.08%的患者出现糜烂。采用了一整套的治疗方法。结论:作者得出结论,应鼓励筛查相关疾病,因为与SSc重叠可能影响预后和治疗。
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引用次数: 0
The dichotomy of glucocorticosteroid treatment in immune-inflammatory rheumatic diseases: an evidence-based perspective and insights from clinical practice. 免疫性炎性风湿性疾病糖皮质激素治疗的二分法:循证观点和临床实践的见解。
IF 1.4 Q3 RHEUMATOLOGY Pub Date : 2023-01-01 Epub Date: 2023-08-31 DOI: 10.5114/reum/170845
Elvis Hysa, Tamara Vojinovic, Emanuele Gotelli, Elisa Alessandri, Carmen Pizzorni, Sabrina Paolino, Alberto Sulli, Vanessa Smith, Maurizio Cutolo

Objectives: Glucocorticosteroids (GCs) are the most used anti-inflammatory and immunosuppressive drugs due to their effectiveness in managing pain and disease modification in many immune-inflammatory rheumatic diseases (IRDs). However, their use is limited because of adverse effects (AEs).

Material and methods: The authors analyzed recent studies, including randomized controlled trials (RCTs), observational, translational studies and systematic reviews, providing an in-depth viewpoint on the benefits and drawbacks of GC use in rheumatology.

Results: Glucocorticosteroids are essential in managing life-threatening autoimmune diseases and a cornerstone in many IRDs given their swift onset of action, necessary in flares. Several RCTs and meta-analyses have demonstrated that when administered over a long time and on a low-dose basis, GC can slow the radiographic progression in early rheumatoid arthritis (RA) patients by at least 50%, satisfying the conventional definition of a disease-modifying anti-rheumatic drug (DMARD). In the context of RA treatment, the use of modified-release prednisone formulations at night may offer the option of respecting circadian rhythms of both inflammatory response and HPA activation, thereby enabling low-dose GC administration to mitigate nocturnal inflammation and prolonged morning fatigue and joint stiffness. Long-term GC use should be individualized based on patient characteristics and minimized due to their potential AEs. Their chronic use, especially at medium/high dosages, might cause irreversible organ damage due to the burden of metabolic systemic effects and increased risk of infections. Many international guidelines recommend tapering/withdrawal of GCs in sustained remission. Treat-to-target (T2T) strategies are critical in setting targets for disease activity and reducing/discontinuing GCs once control is achieved.

Conclusions: Glucocorticosteroids' use in treating IRDs should be judicious, focused on minimizing use, tapering and discontinuing treatment, when possible, to improve long-term safety. Glucocorticosteroids remain part of many therapeutic regimens, particularly at low doses, and elderly RA patients, especially with associated chronic comorbidities, may benefit from long-term low-dose GC treatment. A personalized GC therapy is essential for optimal long-term outcomes.

目的:糖皮质激素(GC)是最常用的抗炎和免疫抑制药物,因为它们在许多免疫炎症性风湿性疾病(IRD)中有效地控制疼痛和疾病改变。然而,由于不良反应(AE),它们的使用受到限制。材料和方法:作者分析了最近的研究,包括随机对照试验(RCT)、观察性研究、转化研究和系统综述,对GC在风湿病中的应用的优缺点提供了深入的观点。结果:糖皮质激素在治疗危及生命的自身免疫性疾病方面至关重要,也是许多IRD的基石,因为它们的作用迅速,在发作时是必要的。几项随机对照试验和荟萃分析表明,当长期低剂量给药时,GC可以将早期类风湿性关节炎(RA)患者的放射学进展减缓至少50%,满足疾病改良抗风湿药物(DMARD)的传统定义。在RA治疗的背景下,夜间使用改性释放的泼尼松制剂可以提供尊重炎症反应和HPA激活的昼夜节律的选择,从而使低剂量GC给药能够减轻夜间炎症、延长的早晨疲劳和关节僵硬。长期GC的使用应根据患者的特点进行个体化,并因其潜在的AE而尽量减少。它们的长期使用,特别是中/高剂量,可能会由于代谢系统效应的负担和感染风险的增加而导致不可逆的器官损伤。许多国际指南建议在持续缓解的情况下逐渐减少/退出GC。靶向治疗(T2T)策略在设定疾病活动目标和一旦达到控制就减少/停止GC方面至关重要。结论:糖皮质激素在治疗IRD中的使用应该是明智的,重点是尽量减少使用,尽可能减少和停止治疗,以提高长期安全性。糖皮质激素仍然是许多治疗方案的一部分,特别是在低剂量下,老年RA患者,特别是患有相关慢性合并症的患者,可能受益于长期低剂量GC治疗。个性化的GC治疗对于获得最佳的长期结果至关重要。
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引用次数: 0
Musculoskeletal complications of Cushing syndrome. 库欣综合征的肌肉骨骼并发症。
Q3 RHEUMATOLOGY Pub Date : 2023-01-01 Epub Date: 2023-08-31 DOI: 10.5114/reum/169889
Dorota Leszczyńska, Alicja Szatko, Lucyna Papierska, Wojciech Zgliczyński, Piotr Glinicki

Prolonged exposure to an excess of glucocorticosteroids (GCs), both endogenous and exogenous, leads to a wide range of comorbidities, including cardiovascular, metabolic, psychiatric, and musculoskeletal disorders. The latter comprise osteopenia and osteoporosis leading to skeletal fractures and myopathy. Although endogenous hypercortisolemia is a rare disorder, GCs are among the most frequently prescribed drugs, often administered chronically and despite multiple side effects, impossible to taper off due to therapeutic reasons. The pathophysiology of the effect of GC excess on bone often leads to fractures despite normal or low-normal bone mineral density and it includes direct (mainly disturbance in bone formation processes, through inactivation of the Wnt/β-catenin signalling pathway) and indirect mechanisms (through suppressing the gonadal and somatotrophic axis, and also through antagonizing vitamin D actions). Glucocorticosteroid-induced fast-twitch, glycolytic muscles atrophy occurs due to increased protein catabolism and impaired synthesis. Protein degradation is a result of activation of the ubiquitin proteasome and the lysosomes stimulated through overexpression of several atrogenes (such as FOXO-1 and atrogin-1). This review will discuss pathophysiology, clinical presentation, prevention, and management of GC-induced osteoporosis (including calcium and vitamin D supplementation, and bisphosphonates) and myopathy associated with GC excess.

长期暴露于过量的内源性和外源性糖皮质激素(GC)会导致广泛的合并症,包括心血管、代谢、精神和肌肉骨骼疾病。后者包括骨质减少和骨质疏松症,导致骨骼骨折和肌病。尽管内源性高皮质醇血症是一种罕见的疾病,但GC是最常见的处方药之一,通常是慢性给药,尽管有多种副作用,但由于治疗原因,不可能逐渐减少。GC过量对骨骼影响的病理生理学通常会导致骨折,尽管正常或低正常骨密度,它包括直接(主要是通过Wnt/β-catenin信号通路的失活干扰骨骼形成过程)和间接机制(通过抑制性腺和体营养轴,以及通过拮抗维生素D作用)。糖皮质激素诱导的快速抽搐、糖酵解肌萎缩是由于蛋白质分解代谢增加和合成受损。蛋白质降解是泛素蛋白酶体和溶酶体激活的结果,通过过表达几种萎缩基因(如FOXO-1和萎缩蛋白-1)刺激。这篇综述将讨论GC诱导的骨质疏松症(包括补充钙和维生素D,以及二磷酸盐)和与GC过量相关的肌病的病理生理学、临床表现、预防和管理。
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引用次数: 1
Epidemiology of low back pain: frequency, risk factors, and patterns in South-South Nigeria. 尼日利亚南南腰痛的流行病学:频率、危险因素和模式
Q3 RHEUMATOLOGY Pub Date : 2023-01-01 Epub Date: 2023-10-31 DOI: 10.5114/reum/173377
Airenakho Emorinken, Cyril Oshomah Erameh, Blessyn Omoye Akpasubi, Mercy Ofunami Dic-Ijiewere, Asuwemhe Johnson Ugheoke

Introduction: Low back pain (LBP) is a prevalent musculoskeletal condition that poses significant public health challenges. However, its epidemiology in Sub-Saharan Africa, especially in rural settings, remains largely unexplored. This study aimed to determine the epidemiology of LBP in a Nigerian Teaching Hospital.

Material and methods: This was a retrospective review of the records of all LBP cases seen at the rheumatology clinic from 2018 to 2022 in a Teaching Hospital in South-South Nigeria. The sociodemographic and clinical data, including disability scores, was extracted from the patients' medical records. The data was analyzed using IBM SPSS version 25, and the level of significance was set at p < 0.05.

Results: Among 1,580 patients, 319 (20.2%) reported LBP. The mean age was 59.51 ±10.21, and the peak age incidence was 51-60 years. Low back pain was more prevalent in females (61.4%). Work-related factors (47.3%) such as heavy lifting (26.3%), prolonged sitting (19.4%), and poor posture (27.9%) were the prominent risk factors. Sedentary behavior (11.5%) and obesity (16.9%) contributed. Common clinical manifestations included difficulty standing or bending (73%), walking difficulties (67.7%), sleep disturbances (51.4%), and radicular pain (45.8%). Common etiologies were spondylosis (66.5%), spondylolisthesis (22.3%), disc prolapse (19.4%), spinal canal stenosis (15.4%), muscle spasm (12.2%), and tuberculous spondylitis (9.7%). Acute and chronic LBP constituted 12.2% and 79.9% of cases, respectively. In terms of disability, 33.5% had minimal, 44.5% had moderate, 15.4% had severe, and 6.6% had crippling disabilities.

Conclusions: Mechanical causes were the most implicated in LBP. Work-related factors and lifestyle choices contribute to the occurrence of LBP. Adjusting posture and lifestyle modification reduces LBP risk. Understanding its epidemiology is crucial for optimizing care and implementing preventive strategies.

简介:腰痛(LBP)是一种常见的肌肉骨骼疾病,对公共卫生构成重大挑战。然而,其在撒哈拉以南非洲的流行病学,特别是农村地区的流行病学在很大程度上仍未得到探索。本研究旨在了解尼日利亚某教学医院腰痛的流行病学。材料和方法:本研究回顾性分析了尼日利亚南南一家教学医院2018年至2022年风湿病门诊所有LBP病例的记录。从患者的医疗记录中提取社会人口学和临床数据,包括残疾评分。数据采用IBM SPSS version 25进行分析,显著性水平设为p < 0.05。结果:1580例患者中,319例(20.2%)报告腰痛。平均年龄59.51±10.21岁,51 ~ 60岁为发病高峰。腰痛在女性中更为普遍(61.4%)。与工作有关的因素(47.3%),例如举重(26.3%)、久坐(19.4%)和不良姿势(27.9%)是主要的危险因素。久坐行为(11.5%)和肥胖(16.9%)是原因之一。常见的临床表现包括站立或弯曲困难(73%)、行走困难(67.7%)、睡眠障碍(51.4%)和神经根痛(45.8%)。常见病因为颈椎病(66.5%)、脊柱滑脱(22.3%)、椎间盘突出(19.4%)、椎管狭窄(15.4%)、肌肉痉挛(12.2%)和结核性脊柱炎(9.7%)。急性和慢性腰痛分别占12.2%和79.9%。在残疾方面,33.5%为轻度残疾,44.5%为中度残疾,15.4%为重度残疾,6.6%为严重残疾。结论:机械原因与腰痛最相关。与工作有关的因素和生活方式的选择有助于腰痛的发生。调整姿势和改变生活方式可降低腰痛风险。了解其流行病学对优化护理和实施预防战略至关重要。
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引用次数: 0
Deficiency of adenosine deaminase 2: a challenging differential diagnosis of polyarteritis nodosa. 腺苷脱氨酶2缺乏:结节性多动脉炎的鉴别诊断具有挑战性。
Q3 RHEUMATOLOGY Pub Date : 2023-01-01 DOI: 10.5114/reum.2023.124878
Shakiba Hassanzadeh, Mohammad Bahadoram, Karim Mowla

Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder that was first described in 2014. It is a monogenic disease that is caused by loss-of-function variants in the ADA2 gene. Deficiency of adenosine deaminase 2 involves small- and medium-sized vessels and its clinical presentations include polyarteritis nodosa (PAN)-like features such as livedoid rash, early-onset stroke, hypogammaglobulinemia, hematological abnormalities, and systemic inflammation. Early diagnosis and treatment of DADA2 are crucial as the clinical features could be potentially life-threatening but might be treatable. The first-line treatment of choice in DADA2 is tumor necrosis factor α inhibitors. We aimed to provide an overview of the known pathophysiology, clinical presentations, diagnosis, and treatment of DADA2. A clearer knowledge of DADA2 may help to better diagnose, manage, and improve the clinical outcome of DADA2 patients. However, further studies are required to investigate the genotype-phenotype associations and exact pathophysiology of DADA2.

腺苷脱氨酶2缺乏症(DADA2)是一种常染色体隐性遗传病,于2014年首次发现。这是一种单基因疾病,由ADA2基因的功能丧失变异引起。腺苷脱氨酶2缺乏累及中小型血管,其临床表现包括结节性多动脉炎(PAN)样特征,如样皮疹、早发性卒中、低γ球蛋白血症、血液学异常和全身性炎症。早期诊断和治疗DADA2至关重要,因为其临床特征可能危及生命,但可能是可治疗的。DADA2的一线治疗选择是肿瘤坏死因子α抑制剂。我们旨在概述DADA2的已知病理生理、临床表现、诊断和治疗。了解DADA2可能有助于更好地诊断、管理和改善DADA2患者的临床结果。然而,需要进一步研究DADA2的基因型-表型关联和确切的病理生理。
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引用次数: 1
Swollen hands and feet syndrome: a rare occurrence. 手脚肿胀综合征:罕见。
Q3 RHEUMATOLOGY Pub Date : 2023-01-01 DOI: 10.5114/reum/157590
Kushagra Gupta, Ajay Mahajan
Dear Editor, A 48-year-old-man, daily wage laborer by profession, came to the out-patient department with complaints of swelling in hands along with decreased sensation in arms and feet distal to elbow and knees, respectively, for the past 3 months. There was no associated pain. There was no history of fever, weight loss or any recent episode of infection or trauma. The patient was a regular smoker and consumed alcohol occasionally; dietary habits were normal. Family history was unremarkable. The patient was examined and found to have non-pitting edema over the dorsum of the hands which extended beyond the joint line (Fig. 1A, 1B). There was no obvious tenderness. Deep tendon reflexes were preserved, and the rest of the motor examination was within normal limits. The patient had multiple hypopigmented macular patches over the back with overlying sensory loss (Fig. 1C). The routine investigations including complete blood count, liver and renal function tests were normal. The inflammatory parameters (erythrocyte sedimentation rate and C-reactive protein) were also within normal limits; thyroid profile and vitamin levels (to rule out nutritional deficiencies) also came back normal. Autoimmune workup was also negative for rheumatoid factor (RF), anti-citrullinated protein antibody (ACPA) and anti-nuclear antibody (ANA). Ultrasound examination showed presence of tenosynovitis. A clinical suspicion for leprosy was maintained and on thorough review of the patient, the peripheral nerves (including the ulnar nerve and common peroneal nerve) were found to be thickened and palpable. Slit skin smear was obtained to confirm the diagnosis, which showed presence of Mycobacterium leprae. A diagnosis of multibacillary leprosy with tenosynovitis of the hands was made and the patient was started on dapsone and clofazimine daily along with rifampicin once a month (multidrug therapy). The patient gradually showed improvement with resolution of swelling and no further progression of lesions. Leprosy is an infectious disease caused by Mycobacterium leprae that mainly affects skin and peripheral nerves. The majority of the cases are reported from India, Brazil, Bangladesh, Nepal and Indonesia [1]. Outside the endemic regions, leprosy has been reported to be associated with exposure to armadillos [2]. The disease is classified on the basis of the immune response mounted against the organism. At one end of spectrum lies tuberculoid leprosy (paucibacillary), which is characterized by a robust immune response against the bacillus and formation of granulomas and limited spread of the disease. At the other end lies lepromatous leprosy (multibacillary), which is characterized by a weak response against the bacillus resulting in disseminated disease. Clinical manifestations include hypopigmented patches on the skin with sensory loss, collapsed nose and peripheral nerve involvement resulting in tender palpable nerves, paraesthesia and foot drop. Musculoskeletal involvement in le
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引用次数: 0
VEXAS syndrome: an adult-onset monogenic autoinflammatory disease with many unanswered questions. VEXAS综合征:一种成人发病的单基因自身炎症性疾病,有许多未解之谜。
Q3 RHEUMATOLOGY Pub Date : 2023-01-01 DOI: 10.5114/reum/165994
José Hernández-Rodríguez, Jakub Nieścieruk, Maria Maślińska
José Hernández-Rodríguez1,2,3,4 ID , Jakub Nieścieruk5 ID , Maria Maślińska4,5 ID 1Clinical Unit of Autoinflammatory Diseases and Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic of Barcelona, Spain 2Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain 3Center of the European Reference Network (ERN) for Rare Immunodeficiency, Autoinflammatory and Autoimmune Diseases (RITA) 4Center of the European Reference Network (ERN) on Connective Tissue and Musculoskeletal Diseases (ReCONNET) 5Early Arthritis Clinic, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland
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引用次数: 0
期刊
Reumatologia
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