European journal of rheumatology最新文献

{"title":"Hypereosinophilic Syndrome with Endomyocarditis: Identification by Next-Generation Sequencing of the JAK2-V617F Mutation.","authors":"Ruta Tesfamicael,&nbsp;Thanda Aung,&nbsp;Thomas Domin Lee,&nbsp;Ernest Brahn","doi":"10.5152/eurjrheum.2023.22123","DOIUrl":"10.5152/eurjrheum.2023.22123","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12066,"journal":{"name":"European journal of rheumatology","volume":"10 2","pages":"67-70"},"PeriodicalIF":1.9,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/18/bc/ejr-10-2-67.PMC10544436.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9837440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"When the Mimic Coexists with the Mimicked.","authors":"Ufuk İlgen,&nbsp;Zeliha Ademoğlu,&nbsp;Kübra Erol Kalkan,&nbsp;Tülin Deniz Yalta,&nbsp;Hakan Emmungil","doi":"10.5152/eurjrheum.2023.21212","DOIUrl":"10.5152/eurjrheum.2023.21212","url":null,"abstract":"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.","PeriodicalId":12066,"journal":{"name":"European journal of rheumatology","volume":"10 2","pages":"86-87"},"PeriodicalIF":1.9,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/24/f1/ejr-10-2-86.PMC10544443.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9837078","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diffuse Idiopathic Skeletal Hyperostosis in a Young Male.","authors":"Ashish Sharma,&nbsp;Ashok Kumar,&nbsp;Anunay Agarwal","doi":"10.5152/eurjrheum.2023.22072","DOIUrl":"10.5152/eurjrheum.2023.22072","url":null,"abstract":"","PeriodicalId":12066,"journal":{"name":"European journal of rheumatology","volume":"10 2","pages":"84-85"},"PeriodicalIF":1.9,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e7/6b/ejr-10-2-84.PMC10544329.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10214605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anti-Triggering Receptor Expressed on Myeloid Cells-Like Transcript-1 Antibodies in Systemic Lupus Erythematosus.","authors":"Luis M Vilá, Mariely Nieves-Plaza, Xariana Vales Torres, Benjamín Nieves, A Valance Washington","doi":"10.5152/eurjrheum.2023.22051","DOIUrl":"10.5152/eurjrheum.2023.22051","url":null,"abstract":"","PeriodicalId":12066,"journal":{"name":"European journal of rheumatology","volume":"10 2","pages":"88-89"},"PeriodicalIF":1.9,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/63/5e/ejr-10-2-88.PMC10544204.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9825200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic Review of Non-surgical Therapies for Osteoarthritis of the Hand: An Update.","authors":"Haonan Mi, Christopher Oh, Tanveer Towheed","doi":"10.5152/eurjrheum.2023.21197","DOIUrl":"10.5152/eurjrheum.2023.21197","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12066,"journal":{"name":"European journal of rheumatology","volume":" ","pages":""},"PeriodicalIF":1.9,"publicationDate":"2023-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11184966/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10658914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chondrocalcinosis and Osteoarthritis: A Literature Review.","authors":"Stacey Ying Guo, Cassandra A Lee, Barton L Wise","doi":"10.5152/eurjrheum.2023.21093","DOIUrl":"10.5152/eurjrheum.2023.21093","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":12066,"journal":{"name":"European journal of rheumatology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2023-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11664833/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9113047","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sex Difference in OA: Should We Blame Estrogen?","authors":"Uyen-Sa D T Nguyen, Fiona R Saunders, Kathryn R Martin","doi":"10.5152/eurjrheum.2023.20193","DOIUrl":"10.5152/eurjrheum.2023.20193","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12066,"journal":{"name":"European journal of rheumatology","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2023-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11664844/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9113048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comment on the Article \"Adalimumab-Induced Lupus Nephritis: Case Report and Review of the Literature\".","authors":"Alexandros A Drosos,&nbsp;Eleftherios Pelechas,&nbsp;Aliki I Venetsanopoulou,&nbsp;Paraskevi V Voulgari","doi":"10.5152/eurjrheum.2022.22055","DOIUrl":"https://doi.org/10.5152/eurjrheum.2022.22055","url":null,"abstract":"","PeriodicalId":12066,"journal":{"name":"European journal of rheumatology","volume":"10 1","pages":"49"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f7/ba/ejr-10-1-49.PMC10152112.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9771086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Musculoskeletal Point-of-Care Ultrasonography Training Among Canadian Postgraduate Rheumatology Programs.","authors":"Tenneille Tana,&nbsp;Noura Al Osaimi,&nbsp;Ummugulsum Gazel,&nbsp;Johannes Roth,&nbsp;Sibel Zehra Zehra Aydin,&nbsp;Susan Humphrey-Murto","doi":"10.5152/eurjrheum.2022.21081","DOIUrl":"https://doi.org/10.5152/eurjrheum.2022.21081","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Method: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":12066,"journal":{"name":"European journal of rheumatology","volume":"10 1","pages":"8-11"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/05/92/ejr-10-1-8.PMC10152115.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9400591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Camurati-Engelmann Disease: A Case-Based Review About an Ultrarare Bone Dysplasia.","authors":"Philipp Klemm,&nbsp;Iris Aykara,&nbsp;Uwe Lange","doi":"10.5152/eurjrheum.2023.21115","DOIUrl":"https://doi.org/10.5152/eurjrheum.2023.21115","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":12066,"journal":{"name":"European journal of rheumatology","volume":"10 1","pages":"34-38"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/93/e7/ejr-10-1-34.PMC10152113.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9395600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}