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Hypereosinophilic Syndrome with Endomyocarditis: Identification by Next-Generation Sequencing of the JAK2-V617F Mutation. 高嗜酸性粒细胞综合征伴心肌炎:JAK2-V617F突变的下一代测序鉴定。
IF 1.9 Pub Date : 2023-04-01 DOI: 10.5152/eurjrheum.2023.22123
Ruta Tesfamicael, Thanda Aung, Thomas Domin Lee, Ernest Brahn

Hypereosinophilic syndrome requires a peripheral absolute eosinophil count of ≥1.5 × 109 /L with clinical manifestations attributable to peripheral or tissue hypereosinophilia. Clinical manifestations can vary greatly, with the majority of patients relatively asymptomatic and the eosinophilia detected incidentally. However, in a minority of hypereosinophilia cases, they may present with severe lifethreatening organ dysfunction affecting skin, lung, heart, gastrointestinal tract, and nervous system. A case of hypereosinophilia with potentially life-threatening cardiovascular involvement is discussed. Initial laboratory investigations showed an elevated white blood cell count with 60% eosinophils. An endomyocardial biopsy revealed eosinophilic endomyocarditis with granuloma, rare giant cells, and no vasculitis, microorganisms, or malignancy. Her presentation met the criteria for either hypereosinophilic syndrome or eosinophilic granulomatosis with polyangitis. Molecular genetic analysis was negative for myelodysplastic syndrome panel/ Platelet Derived Growth Factor Receptor Beta (PDGFRB) (5q32)/Fibroblast Growth Factor Receptor 1 (FGFR1) Fluorescence In Situ Hybridization (FISH), Feline McDonough Sarcoma-related Tyrosine Kinase 3 (FLT3) Internal Tandem Duplication (ITD) mutation, Calregulin (CALR) exon 9 mutation, and T-cell gene rearrangement/polymerase chain reaction. Bone marrow biopsy revealed a mildly hypocellular marrow with multilineage hematopoiesis,+ megakaryocyte dysplasia, and focal eosinophilia. No excess blasts, no monotypic B-cell population, and no discrete pan T-cell aberrancies were found. Bone marrow cytogenetic studies showed a normal signal pattern for myeloproliferative neoplasms panel/Sec1 Family Domain Containing 2 (SCFD2)-Ligand of Numb Protein-X (LNX)-Platelet-derived Growth Factor Receptor Alpha (PDGFRA) fluorescence in situ hybridization with a normal karyotype of 46 XX. Next-generation sequencing, however, was positive for the JAK2-V617F mutation, a rare molecular abnormality in hypereosinophilic syndrome. The prevalence ranges from approximately 0% to 4%. The JAK2 point mutation leads to aberrant tyrosine phosphorylation and increased cytokine activation. The case demonstrates the complexity and challenging nature of advanced diagnostic opportunities in hypereosinophilia and the potential use, in select subsets, of targeted treatments such as tyrosine kinase inhibitors.

嗜酸性粒细胞增多综合征要求外周嗜酸性粒绝对计数≥1.5×109/L,临床表现可归因于外周或组织嗜酸性粒增多。临床表现可能差异很大,大多数患者相对无症状,嗜酸性粒细胞增多是偶然发现的。然而,在少数嗜酸性粒细胞增多的病例中,他们可能会出现严重的危及生命的器官功能障碍,影响皮肤、肺、心脏、胃肠道和神经系统。讨论了一例嗜酸性粒细胞增多并可能危及生命的心血管疾病。初步实验室调查显示白细胞计数升高,嗜酸性粒细胞占60%。心内膜心肌活检显示嗜酸性心内膜心肌炎伴肉芽肿、罕见巨细胞,无血管炎、微生物或恶性肿瘤。她的表现符合嗜酸性粒细胞增多综合征或嗜酸性肉芽肿伴多发性脑膜炎的标准。骨髓增生异常综合征面板/血小板衍生生长因子受体β(PDGFRB)(5q32)/成纤维细胞生长因子受体1(FGFR1)荧光原位杂交(FISH)、Feline McDonough肉瘤相关酪氨酸激酶3(FLT3)内部串联重复(ITD)突变、钙调节蛋白(CALR)外显子9突变、,以及T细胞基因重排/聚合酶链式反应。骨髓活检显示轻度低细胞骨髓伴多系造血、+巨核细胞发育不良和局灶性嗜酸性粒细胞增多。没有发现过量的成纤维细胞,没有发现单型B细胞群,也没有发现离散的泛T细胞变异。骨髓细胞遗传学研究显示骨髓增生性肿瘤面板/Sec1家族结构域含2(SCFD2)-Numb蛋白-X配体(LNX)-血小板衍生生长因子受体α(PDGFRA)荧光原位杂交的正常信号模式,正常核型为46XX。然而,下一代测序对JAK2-V617F突变呈阳性,这是嗜酸性粒细胞增多综合征中一种罕见的分子异常。患病率约为0%至4%。JAK2点突变导致酪氨酸磷酸化异常和细胞因子活化增加。该病例证明了嗜酸性粒细胞增多症高级诊断机会的复杂性和挑战性,以及酪氨酸激酶抑制剂等靶向治疗在选定亚群中的潜在用途。
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引用次数: 1
When the Mimic Coexists with the Mimicked. 当模仿者与被模仿者共存时。
IF 1.9 Pub Date : 2023-04-01 DOI: 10.5152/eurjrheum.2023.21212
Ufuk İlgen, Zeliha Ademoğlu, Kübra Erol Kalkan, Tülin Deniz Yalta, Hakan Emmungil
A 77-year-old male presented with blurred vision in the left eye for the last few weeks. Optic disc on the left was pale and edematous on eye examination. The best uncorrected visual acuity in the right and left eyes was 6/9 and 6/21, respectively. He was reported to have bitemporal headaches as well. Both superficial temporal arteries were hard and nodular with no tenderness on palpation. Erythrocyte sedimentation rate (ESR) and serum C-reactive protein (CRP) were 80 mm/h and 45 mg/L, respectively. Complete blood count and serum biochemistry were normal. Although the walls of the superficial temporal arteries were thickened and segmentally stenotic on color Doppler ultrasonography, no characteristic halo sign could be detected. Intravenous pulse methylprednisolone 1 g/day for 3 days followed by 48 mg/day p.o. was initiated after temporal artery biopsy. Visual acuity in the left eye increased gradually to 6/15 and 6/12 at the end of the first and second weeks of corticosteroid therapy, respectively. Erythrocyte sedimentation rate and CRP returned to their normal values as well.
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引用次数: 0
Diffuse Idiopathic Skeletal Hyperostosis in a Young Male. 青年男性弥漫性特发性骨骼肥大。
IF 1.9 Pub Date : 2023-04-01 DOI: 10.5152/eurjrheum.2023.22072
Ashish Sharma, Ashok Kumar, Anunay Agarwal
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引用次数: 0
Anti-Triggering Receptor Expressed on Myeloid Cells-Like Transcript-1 Antibodies in Systemic Lupus Erythematosus. 系统性红斑狼疮骨髓细胞样转录-1抗体上表达的抗触发受体。
IF 1.9 Pub Date : 2023-04-01 DOI: 10.5152/eurjrheum.2023.22051
Luis M Vilá, Mariely Nieves-Plaza, Xariana Vales Torres, Benjamín Nieves, A Valance Washington
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引用次数: 0
Systematic Review of Non-surgical Therapies for Osteoarthritis of the Hand: An Update. 手部骨关节炎非手术疗法的系统回顾:最新进展。
IF 1.9 Pub Date : 2023-02-06 DOI: 10.5152/eurjrheum.2023.21197
Haonan Mi, Christopher Oh, Tanveer Towheed

Hand osteoarthritis is a common disease with significant morbidity. This review aimed to update our earlier systematic reviews which included all published randomized controlled trials evaluating pharmacological and non-pharmacological therapies in patients with hand osteoarthritis. A total of 133 randomized controlled trials evaluating pharmacological and nonpharmacological therapies in hand osteoarthritis were reviewed. Overall, the methodological quality of randomized controlled trials has improved since the last update. Almost all new studies described their methods for randomization, blinding, and allocation concealment. However, studies continued to underreport features specific to hand osteoarthritis, such as pattern of joint involvement and number of affected joints. Standardized outcome assessments for pain and function were commonly presented, but measures of other hand osteoarthritis specific outcomes, such as health-related quality of life and patient global assessments, continued to be underreported. Future trials should consistently report on hand osteo arthritis specific features and outcome assessments in order to make clinically relevant conclusions about the efficacy of the diverse treatment options available.

手部骨关节炎是一种常见疾病,发病率很高。本综述旨在更新我们早期的系统性综述,其中包括所有已发表的评估手部骨关节炎患者药物和非药物疗法的随机对照试验。共回顾了133项评估手部骨关节炎药物和非药物疗法的随机对照试验。总体而言,自上次更新以来,随机对照试验的方法学质量有所提高。几乎所有新研究都介绍了随机化、盲法和分配隐藏的方法。但是,仍有研究未充分报告手部骨关节炎的具体特征,如关节受累模式和受影响关节的数量。对疼痛和功能的标准化结果评估是常见的,但对其他手部骨关节炎特定结果的测量,如与健康相关的生活质量和患者总体评估,仍然报告不足。未来的试验应持续报告手部骨关节炎的具体特征和结果评估,以便对现有各种治疗方案的疗效做出临床相关的结论。
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引用次数: 0
Chondrocalcinosis and Osteoarthritis: A Literature Review. 软骨钙化症与骨关节炎:文献综述。
IF 1.9 Pub Date : 2023-01-23 DOI: 10.5152/eurjrheum.2023.21093
Stacey Ying Guo, Cassandra A Lee, Barton L Wise

Objective: The objective of this study was to review the literature on associations between chondrocalcinosis (CC) and osteoarthritis (OA) and to examine the role of colchicine, previously established as effective for calcium pyrophosphate deposition disease, in the treatment of OA.

Methods: A literature search for mechanistic and clinical studies published between 1990 and 2021 listed in PubMed was performed and studies were included if they examined the associations between OA and CC or colchicine using relevant search terms.

Results: Published evidence suggests significant radiographic and mechanistic associations between knee OA and knee CC, but there are only a limited number of studies demonstrating associations between OA and CC in the hips, hands, and ankles. We examined three studies testing the efficacy of colchicine on treatment of pain in OA and found insufficient evidence to definitively establish that colchicine is effective to ameliorate symptoms of OA, although differences in study methodologies and inclusion criteria may explain inconsistent study findings.

Conclusion: An association between CC and OA is supported at the knee joint in both radiographic and in-vitro studies, but is less definite when the relationship is evaluated at other joints, including at the hips, hands, and ankles. Further research is required to ascertain whether CC modifies symptoms in patients with osteoarthritis or is associated with OA progression. It may be worthwhile to further evaluate colchicine or other agents for potential symptom modifying roles in OA or in OA with CC.

研究目的本研究旨在回顾有关软骨钙化症(CC)与骨关节炎(OA)之间关系的文献,并探讨秋水仙碱(以前曾被证实对焦磷酸钙沉积症有效)在治疗OA中的作用:对PubMed上1990年至2021年间发表的机理和临床研究进行文献检索,使用相关检索词研究OA与CC或秋水仙碱之间关系的研究均被纳入:已发表的证据表明,膝关节 OA 和膝关节 CC 之间存在明显的放射学和机理关联,但只有少数研究表明,髋关节、手部和脚踝的 OA 和 CC 之间存在关联。我们研究了三项测试秋水仙碱治疗 OA 疼痛疗效的研究,发现没有足够的证据可以明确秋水仙碱对改善 OA 症状有效,尽管研究方法和纳入标准的差异可能是研究结果不一致的原因:结论:CC与OA之间的关系在膝关节的影像学和体外研究中都得到了支持,但在评估其他关节(包括髋关节、手部和脚踝)的关系时则不那么明确。要确定CC是否会改变骨关节炎患者的症状或与OA进展相关,还需要进一步研究。也许值得进一步评估秋水仙碱或其他药物对OA或伴有CC的OA的潜在症状调节作用。
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引用次数: 0
Sex Difference in OA: Should We Blame Estrogen? OA 中的性别差异:我们应该归咎于雌激素吗?
IF 1.9 Pub Date : 2023-01-23 DOI: 10.5152/eurjrheum.2023.20193
Uyen-Sa D T Nguyen, Fiona R Saunders, Kathryn R Martin

Osteoarthritis (OA) is a leading cause of chronic pain and disability, not only in the United States but also worldwide. The burden of OA is higher in women than in men. Estrogen as a possible explanation for observed sex differences in OA has not been definitively established. The purpose of this review was to summarize the results from studies of estrogen, estrogen depletion and treatment, and their impact on knee, hip, hand, and spine OA. We conducted a targeted review of the literature using PubMed. Although several studies show that hormone replacement therapy has the potential to be protective of OA for some joints, there are studies that showed no protective effect or even adverse effect. Taken together, the evidence for the protective effect of estrogen therapy depends on OA joint, OA outcome, and study design. Although this area has been studied for decades, more exclusively since the 1990s, there is a lack of high-quality experimental research in this topic. The lack of definitive conclusion on whether estrogen can play a role in the development in OA of either the knee, hip, spine, or hand is often in part due to the noncomparability of studies existing within the literature. Differences in diagnostic criteria, imaging modalities, populations studied, study designs, and outcome measures, as well as random error, have all contributed to inconclusive evidence. Future research on the role of estrogen in OA is needed, particularly as global demographic shifts in increasing overweight/obesity prevalence and ageing populations may contribute to widening OA-related health inequalities.

骨关节炎(OA)是导致慢性疼痛和残疾的主要原因,不仅在美国如此,在全世界也是如此。女性的 OA 负担高于男性。雌激素作为观察到的 OA 性别差异的一种可能解释尚未得到明确证实。本综述旨在总结有关雌激素、雌激素耗竭和治疗及其对膝、髋、手和脊柱 OA 影响的研究结果。我们使用 PubMed 对文献进行了有针对性的综述。尽管一些研究表明激素替代疗法有可能对某些关节的 OA 起保护作用,但也有一些研究表明激素替代疗法没有保护作用,甚至有不良影响。总之,雌激素疗法的保护作用的证据取决于 OA 关节、OA 结果和研究设计。尽管对这一领域的研究已有数十年之久,更确切地说,是自 20 世纪 90 年代以来,但在这一主题方面仍缺乏高质量的实验研究。关于雌激素是否对膝关节、髋关节、脊柱或手部 OA 的发展起作用,目前还没有明确的结论,部分原因是现有文献中的研究缺乏可比性。诊断标准、成像方式、研究人群、研究设计和结果测量的差异,以及随机误差,都是造成证据不确定的原因。未来需要对雌激素在 OA 中的作用进行研究,尤其是随着全球人口结构的变化,超重/肥胖率的增加和人口老龄化可能会导致与 OA 相关的健康不平等现象扩大。
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引用次数: 0
Musculoskeletal Point-of-Care Ultrasonography Training Among Canadian Postgraduate Rheumatology Programs. 加拿大风湿病学研究生项目中的肌肉骨骼护理点超声检查培训。
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2022.21081
Tenneille Tana, Noura Al Osaimi, Ummugulsum Gazel, Johannes Roth, Sibel Zehra Zehra Aydin, Susan Humphrey-Murto

Objective: This study aimed to assess the current state of musculoskeletal point-of-care ultrasonography training among the rheumatology postgraduate programs in Canada and explored the interest in developing a national curriculum.

Method: A Canadian survey was developed by academic rheumatologists including point-of-care ultrasonography experts and point-of-care ultrasonography non-users. Across Canada, all 15 adult and 3 pediatric rheumatology English and French postgraduate programs were surveyed via Survey Monkey with a standardized questionnaire.

Results: The completed response rates were 27% (24/89) for postgraduate year-4 and -5 rheumatology trainees and 61% (11/18) for program directors. Forty-two percent (10/24) of trainees had access to formal point-of-care ultrasonography training, and 67% (16/24) had some form of informal nonstructured exposure. Of all respondents, 87.5% (21/24) trainees and 82% (9/11) program directors agreed or strongly agreed that point-of-care ultrasonography is an important clinical tool in rheumatology. Eighty-nine percent (8/9) of program directors felt that point-of-care ultrasonography should be a formal part of rheumatology training.

Conclusion: This national survey demonstrates that while musculoskeletal point-of-care ultrasonography is considered an important component of clinical practice, significant training barriers exist. The majority of both trainees and program directors felt that point-of-care ultrasonography should be a formal part of training and would be interested in a national standardized point-of-care ultrasonography curriculum in Canada.

目的:本研究旨在评估加拿大风湿病研究生课程中肌肉骨骼护理点超声训练的现状,并探讨开发国家课程的兴趣。方法:一项加拿大调查是由学术风湿病学家开发,包括点护理超声专家和点护理超声非用户。通过Survey Monkey对加拿大所有15名成人和3名儿童风湿病学英语和法语研究生课程进行了标准化问卷调查。结果:四年级和五年级风湿病学研究生的完成缓解率为27%(24/89),项目主任的完成缓解率为61%(11/18)。42%(10/24)的受训者接受了正式的现场超声检查培训,67%(16/24)的受训者接受了某种形式的非正式非结构化暴露。在所有受访者中,87.5%(21/24)的受训者和82%(9/11)的项目主任同意或强烈同意,即现场超声检查是风湿病学的重要临床工具。89%(8/9)的项目主管认为现场超声检查应该成为风湿病学培训的正式组成部分。结论:这项全国调查表明,虽然肌肉骨骼点超声检查被认为是临床实践的重要组成部分,但存在显著的培训障碍。大多数受训者和项目主管都认为,现场超声检查应该是培训的正式组成部分,并对加拿大国家标准化的现场超声检查课程感兴趣。
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引用次数: 5
Comment on the Article "Adalimumab-Induced Lupus Nephritis: Case Report and Review of the Literature". 《阿达木单抗致狼疮性肾炎病例报告及文献复习》一文评论。
IF 1.9 Pub Date : 2023-01-01 DOI: 10.5152/eurjrheum.2022.22055
Alexandros A Drosos, Eleftherios Pelechas, Aliki I Venetsanopoulou, Paraskevi V Voulgari
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引用次数: 0
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
期刊
European journal of rheumatology
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