Modern rheumatology case reports最新文献_第10页

Induced membrane technique and intramedullary beaming for the extensive bone defect of the talonavicular joint: A case report and literature review. 诱导膜技术和髓内束治疗距骨关节广泛骨缺损：病例报告和文献综述。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae048

Yuki Ohue, Kosho Togei, Hiroaki Shima, Yoshihiro Hirai, Ken Tanaka, Masashi Neo

引用次数: 0

Adalimumab-induced CNS demyelination in a patient with multiple pre-existing autoimmune diseases: Treatment contemplation. 阿达木单抗诱导一名患有多种自身免疫性疾病的患者出现中枢神经系统脱髓鞘；治疗思考。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae069

Sepehr Khosravi, Babak Zamani, Mohammad Reza Motamed, Fahimeh H Akhoundi

{"title":"Adalimumab-induced CNS demyelination in a patient with multiple pre-existing autoimmune diseases: Treatment contemplation.","authors":"Sepehr Khosravi, Babak Zamani, Mohammad Reza Motamed, Fahimeh H Akhoundi","doi":"10.1093/mrcr/rxae069","DOIUrl":"10.1093/mrcr/rxae069","url":null,"abstract":"Anti-tumour necrosis factor (TNF) agents like adalimumab are safe and effective for rheumatologic disorders, but they have been reported to cause demyelinating diseases like multiple sclerosis. A 47-year-old woman with weakness in the left hand was evaluated. She had a previous medical history of intermediate uveitis and rheumatoid arthritis. Anti-TNF-α treatment was initiated with adalimumab 2 years before this visit. Magenetic resonance imaging showed numerous T2-hyperintense lesions in bilateral periventricular, juxtacortical, and subcortical areas, which were absent in her scan before anti-TNF therapy. She was diagnosed with multiple sclerosis, and adalimumab was discontinued. IV glucocorticoids were administered with marked improvement. She was then started on anti-CD20 therapy with rituximab. A year later, she was symptom-free, and her follow-up brain magnetic resonance imaging showed no new lesions. The link between multiple sclerosis and TNF-α inhibitors is poorly understood, but several hypotheses have been proposed. Discontinuing anti-TNF therapy alone may not be enough to prevent further demyelinating disease activity, and it is essential to consider the necessity of starting a disease-modifying treatment. Autoimmunity plays a significant role in rheumatologic and neurological diseases, and as personalised medicine advances, understanding genetic risk is crucial for selecting appropriate therapeutic targets. A thorough evaluation of a patient's family background is recommended before a therapeutic decision-making, especially in patients with multiple autoimmune disorders, and the question of whether TNF-α is a suitable therapeutic target in patients with multiple autoimmune disorders is raised.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"75-78"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Monogenic lupus with neuroregression in an infant due to rare compound heterozygous variants in C1QA gene: Case-based review. 婴儿因罕见的 C1QA 基因复合杂合变异而患上伴有神经退化的单基因狼疮：病例回顾。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae039

Harsh Jain, S Kartik, Abhishek Kumar, Aradhana Dwivedi, Sankar Jayaprakash, V Vasdev, Ashish Chandwani

{"title":"Monogenic lupus with neuroregression in an infant due to rare compound heterozygous variants in C1QA gene: Case-based review.","authors":"Harsh Jain, S Kartik, Abhishek Kumar, Aradhana Dwivedi, Sankar Jayaprakash, V Vasdev, Ashish Chandwani","doi":"10.1093/mrcr/rxae039","DOIUrl":"10.1093/mrcr/rxae039","url":null,"abstract":"Monogenic lupus is a rare variant of systemic lupus erythematosus (SLE) that develops in patients with a single gene disorder. Early complement component deficiencies were the first forms of monogenic lupus to be described, and C1Q gene mutations are one of the most common forms. C1QA complement deficiency has been reported to occur usually due to biallelic variants in C1QA gene, and compound heterozygous variants in C1QA gene have rarely been reported. A majority of monogenic lupus patients with C1Q deficiency present with mucocutaneous, renal, and musculoskeletal manifestations. Our patient is an unusual case of monogenic lupus with severe neurological manifestations along with cutaneous, haematological, and hepatic manifestations secondary to rare compound heterozygous variants in C1QA gene and antiribosomal P autoantibody positivity. She was treated with glucocorticoids, rituximab, and fresh frozen plasma with partial neurological recovery. Thus, we present a unique case of monogenic lupus due to a rare compound heterozygous variant in C1QA gene with a brief review of literature.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"57-62"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141891404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A case of immunoglobulin G4-related disease complicated by atopic dermatitis responsive to upadacitinib treatment. 一例对乌达替尼治疗敏感的特应性皮炎并发免疫球蛋白 G4 相关疾病病例

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae047

Katsuhide Kusaka, Shingo Nakayamada, Kentaro Hanami, Aya Nawata, Yoshiya Tanaka

{"title":"A case of immunoglobulin G4-related disease complicated by atopic dermatitis responsive to upadacitinib treatment.","authors":"Katsuhide Kusaka, Shingo Nakayamada, Kentaro Hanami, Aya Nawata, Yoshiya Tanaka","doi":"10.1093/mrcr/rxae047","DOIUrl":"10.1093/mrcr/rxae047","url":null,"abstract":"Immunoglobulin G4-related disease (IgG4-RD) is mainly treated with glucocorticoids. In many cases, this disease is resistant to glucocorticoids, and their toxicity can be a problem. We encountered a patient with IgG4-RD affecting multiple organs (such as the skin, lung, and lacrimal gland), who had comorbidities, including atopic dermatitis and diabetes. In this case, while glucocorticoid tapering was difficult, the introduction of upadacitinib resulted in the remission of both atopic dermatitis and IgG4-RD without glucocorticoid dose escalation. Peripheral blood flow cytometry analysis showed that the proportions of activated non-Th1/Th17 cell subset (Th2 cells), follicular helper T cells, and plasmocytes were increased before upadacitinib therapy, but all normalised after treatment. Interleukin-4 and interleukin-21 signals are important for the differentiation of CD4+ T cells into type 2 helper T or B cells in the peripheral blood. Our case suggested that inhibition of Janus kinase 1, which mediates these signals, might have contributed to improved pathological conditions in IgG4-RD.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"207-213"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142038131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Anti-asparaginyl-tRNA synthetase antibody-positive pneumonitis in a patient with immune checkpoint inhibitor treatment: A case report and literature review. 一名接受免疫检查点抑制剂治疗的患者的抗天冬酰胺酰 tRNA 合成酶（Anti-KS）抗体阳性肺炎：病例报告与文献综述。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae043

Nobuhiro Oda, Okuto Koguchi, Hiroki Kontani, Jun Hayashi, Ryo Hazue, Yu Oyama, Ryo Rokutanda

引用次数: 0

Bilateral atypical femur fracture in a patient with breast cancer taking zoledronic acid and denosumab: A case report. 一名服用唑来膦酸和地诺单抗的乳腺癌患者双侧非典型股骨骨折：病例报告。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae059

Kazuhiko Hashimoto, Tomohiko Ito, Yuto Yamagishi, Koji Goto

引用次数: 0

Deciphering the association between biopsy-confirmed systemic small vessel vasculitis and Epstein-Barr virus-positive polymorphic B-cell lymphoproliferation. 解读活检证实的全身性小血管炎与 Epstein-Barr 病毒阳性多态 B 细胞淋巴细胞增殖之间的关联。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae028

Atsuhiko Sunaga, Takahiro Seno, Satoshi Omura, Takuya Inoue, Aya Miyagawa-Hayashino, Ikoi Omatsu, Makoto Wada, Masataka Kohno, Yutaka Kawahito

{"title":"Deciphering the association between biopsy-confirmed systemic small vessel vasculitis and Epstein-Barr virus-positive polymorphic B-cell lymphoproliferation.","authors":"Atsuhiko Sunaga, Takahiro Seno, Satoshi Omura, Takuya Inoue, Aya Miyagawa-Hayashino, Ikoi Omatsu, Makoto Wada, Masataka Kohno, Yutaka Kawahito","doi":"10.1093/mrcr/rxae028","DOIUrl":"10.1093/mrcr/rxae028","url":null,"abstract":"The Epstein-Barr virus (EBV) is associated with various lymphoproliferative disorders (LPDs). Additionally, EBV infection has correlated with diverse autoimmune diseases. However, the association between EBV and systemic small vessel vasculitis (SVV) remains controversial. Here, we report a case of SVV with pauci-immune glomerulonephritis accompanied by an EBV-positive polymorphic B-cell LPD, not otherwise specified. The intricate distinction between EBV-positive B-cell LPD and SVV was difficult, as both diseases demonstrated similar clinical presentations. Lymph node and kidney biopsies facilitated the accurate diagnosis of these two conditions. The administration of high-dose prednisolone, combined with rituximab, proved efficacious, with no instances of relapse over the subsequent 2-year period. This case indicates an association between EBV-positive B-cell LPD and SVV. The diligent execution of biopsies is a crucial diagnostic and interpretive strategy, generating precise comprehension of this condition and guiding its appropriate therapeutic management.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"117-121"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141161335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Idiopathic multicentric Castleman disease-TAFRO after COVID-19: A case report. COVID-19之后的特发性多中心卡斯特曼病--TAFRO：病例报告

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae045

Tatsuro Shiina, Eriko Kashihara Yamamoto, Hirotaka Yamada, Sho Sendo, Maki Kanzawa, Jun Saegusa

引用次数: 0

Possible usefulness of fluorodeoxyglucose positron emission tomography in diagnosing polyarteritis nodosa: A case report and literature review. 氟脱氧葡萄糖正电子发射断层扫描在诊断结节性多动脉炎中的可能用途：病例报告和文献综述。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae044

Toshitaka Yukishima, Shin-Ichiro Ohmura, Haruka Yonezawa, Motoyuki Katayama, Yoshiro Otsuki, Toshiaki Miyamoto, Noriyoshi Ogawa

{"title":"Possible usefulness of fluorodeoxyglucose positron emission tomography in diagnosing polyarteritis nodosa: A case report and literature review.","authors":"Toshitaka Yukishima, Shin-Ichiro Ohmura, Haruka Yonezawa, Motoyuki Katayama, Yoshiro Otsuki, Toshiaki Miyamoto, Noriyoshi Ogawa","doi":"10.1093/mrcr/rxae044","DOIUrl":"10.1093/mrcr/rxae044","url":null,"abstract":"Polyarteritis nodosa (PAN) is a systemic rheumatic disease that affects medium-sized arteries. PAN is typically not associated with anti-neutrophil cytoplasmic antibodies and has no serological surrogate markers. Therefore, its diagnosis requires pathological findings. However, the positive rate of biopsy in diagnosing PAN is not high, and the biopsy area is often limited. Several investigators have reported the usefulness of imaging findings in diagnosing PAN, independent of pathological findings. 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET)/CT has recently been approved for the diagnosis of large-vessel vasculitis in Japan. Several studies have also demonstrated the usefulness of FDG-PET/CT in diagnosing medium-vessel vasculitis. However, no studies have evaluated the usefulness of FDG-PET/CT for diagnosing PAN compared to other modalities, and it is not clear whether FDG-PET/CT is superior to other modalities for diagnosing PAN. Herein, we report a case of PAN and compare the usefulness of FDG-PET/CT with other modalities in diagnosing PAN.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"137-142"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141914885","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Coexistence of anti-KS and anti-TIF1-γ antibodies in clinically amyopathic dermatomyositis presenting with rapid progression of interstitial lung disease. 抗-KS和抗-TIF1-γ抗体同时存在于间质性肺病快速进展的临床淀粉样变性皮肌炎中。

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Modern rheumatology case reports Pub Date : 2025-01-16 DOI: 10.1093/mrcr/rxae033

Yuichiro Ota, Toshiki Ohisa, Akira Ishii, Mai Sugiyama, Yasushi Kondo, Ayumi Nishikawa, Noriko Sasaki, Chiho Yamada, Shinji Sato

{"title":"Coexistence of anti-KS and anti-TIF1-γ antibodies in clinically amyopathic dermatomyositis presenting with rapid progression of interstitial lung disease.","authors":"Yuichiro Ota, Toshiki Ohisa, Akira Ishii, Mai Sugiyama, Yasushi Kondo, Ayumi Nishikawa, Noriko Sasaki, Chiho Yamada, Shinji Sato","doi":"10.1093/mrcr/rxae033","DOIUrl":"10.1093/mrcr/rxae033","url":null,"abstract":"Polymyositis/dermatomyositis (DM) is an idiopathic inflammatory myopathy manifesting mainly as symmetrical proximal muscle weakness and/or typical cutaneous features due to autoimmune mechanisms. Clinically amyopathic dermatomyositis (CADM) is a subset of DM that exhibits only the typical cutaneous features without any clinical muscle symptoms. Several autoantibodies have been found specifically in patients with polymyositis/DM, including CADM patients. The anti-KS antibody is one of a group of anti-aminoacyl transfer RNA antibodies that are mainly associated with fever, Raynaud's phenomenon, polyarthritis, and interstitial lung disease (ILD), whereas anti-TIF1-γ antibody is frequently found in DM patients with malignancy. Here, we report a CADM patient having both anti-KS antibody and anti-TIF1-γ antibody. This patient developed an acute exacerbation of ILD and was successfully treated with high-dose corticosteroid pulse therapy together with immunosuppressive agents. Although earlier experience had indicated that the seminal characteristic of anti-KS-positive ILD was slowly developing disease onset with little or no progression over the clinical course, the present patient suffered rapidly progressive disease.","PeriodicalId":94146,"journal":{"name":"Modern rheumatology case reports","volume":" ","pages":"79-83"},"PeriodicalIF":0.9,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141861956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0