Case Reports in Rheumatology最新文献

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Treatment of Down Syndrome-Associated Arthritis with JAK Inhibition. JAK抑制治疗唐氏综合征相关性关节炎。
Case Reports in Rheumatology Pub Date : 2022-07-16 eCollection Date: 2022-01-01 DOI: 10.1155/2022/4889102
Jordan T Jones
{"title":"Treatment of Down Syndrome-Associated Arthritis with JAK Inhibition.","authors":"Jordan T Jones","doi":"10.1155/2022/4889102","DOIUrl":"https://doi.org/10.1155/2022/4889102","url":null,"abstract":"<p><p>Down syndrome (DS) results from a trisomy of chromosome 21, which causes immune dysregulation that leads to hyperactivation of interferon and Janus kinase (JAK) signaling. This results in complex medical abnormalities in the immune system and an increase in autoimmune and autoinflammatory conditions such as down syndrome-associated arthritis (DA). DA is an aggressive, destructive, inflammatory arthritis that is easily misdiagnosed and difficult to treat. Treatment commonly includes immunosuppressive therapy, but these are often associated with adverse effects and ineffectiveness. This case report outlines a 6-year-old male with DA that was successfully treated with the JAK inhibitor tofacitinib. Due to the aggressive nature of DA and poor response to many immunosuppressive therapies, this case report was created to increase awareness of JAK inhibition as an effective, well-tolerated treatment for DA.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":" ","pages":"4889102"},"PeriodicalIF":0.0,"publicationDate":"2022-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9308516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40635008","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}
引用次数: 1
Hydroxychloroquine and Fabry Disease: Three Case Reports Examining an Unexpected Pathologic Link and a Review of the Literature. 羟氯喹和法布里病:三例报告,检查一个意想不到的病理联系和文献复习。
Case Reports in Rheumatology Pub Date : 2022-07-11 eCollection Date: 2022-01-01 DOI: 10.1155/2022/2930103
Rouhin Sen, Kathleen Borghoff, Kirk W Foster, Stanley J Radio, Alan Erickson, Michelene Hearth-Holmes
{"title":"Hydroxychloroquine and Fabry Disease: Three Case Reports Examining an Unexpected Pathologic Link and a Review of the Literature.","authors":"Rouhin Sen,&nbsp;Kathleen Borghoff,&nbsp;Kirk W Foster,&nbsp;Stanley J Radio,&nbsp;Alan Erickson,&nbsp;Michelene Hearth-Holmes","doi":"10.1155/2022/2930103","DOIUrl":"https://doi.org/10.1155/2022/2930103","url":null,"abstract":"<p><strong>Background: </strong>Hydroxychloroquine is an effective and widely used treatment in multiple autoimmune connective tissue diseases that gained a lot of publicity in the coronavirus disease 2019 (COVID-19) pandemic. Our case reports are unique in that they explore the rare and sometimes overlooked effects of this drug on multiple organ systems, specifically the kidney, cardiac muscle, and skeletal muscle. We include key histologic features in images which aid in identifying and distinguishing hydroxychloroquine toxicity from mimickers. Lastly, we report the very interesting similarity in the intracellular action of hydroxychloroquine to the pathology of Fabry disease (and its associated lysosomal enzyme, <i>α</i>-galactosidase A). <i>Case Presentation</i>. We will examine the case presentations of three female Caucasian patients: a 22-year-old with lupus nephritis class V, a 72-year-old with long-standing systemic lupus erythematosus, and a 74-year-old with undifferentiated connective tissue disease. All three patients were on hydroxychloroquine therapy for varying amounts of time with histologic evidence of hydroxychloroquine toxicity that is three is present in histological samples of the kidney, the heart, and the skeletal muscle.</p><p><strong>Conclusions: </strong>Hydroxychloroquine is a very important and beneficial medication used for various autoimmune connective tissue diseases. Clinicians should be aware of the rare but sometimes serious side effects that can result from the medication, which at times can mimic manifestations of the connective tissue disease itself or Fabry disease. A thorough investigation should be performed in these cases to properly elucidate the cause followed by the appropriate targeted therapy.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":" ","pages":"2930103"},"PeriodicalIF":0.0,"publicationDate":"2022-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40622065","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}
引用次数: 1
Massive Intestinal Bleeding in an Adult with IgA Vasculitis Treated with Intravenous Immunoglobulin. 静脉注射免疫球蛋白治疗成人IgA血管炎大出血1例。
Case Reports in Rheumatology Pub Date : 2022-06-14 eCollection Date: 2022-01-01 DOI: 10.1155/2022/9694911
Ibrahim Nassereddin, Ariel Kenig, Yuval Ishay, Hillel Lehmann, Noa Hurvitz, Narmine Elkhateeb, Ram Gelman, Yael Ratz, Inon Sarig, Ido Burstain, Stephanie Benshushan, Fadi Kharouf
{"title":"Massive Intestinal Bleeding in an Adult with IgA Vasculitis Treated with Intravenous Immunoglobulin.","authors":"Ibrahim Nassereddin,&nbsp;Ariel Kenig,&nbsp;Yuval Ishay,&nbsp;Hillel Lehmann,&nbsp;Noa Hurvitz,&nbsp;Narmine Elkhateeb,&nbsp;Ram Gelman,&nbsp;Yael Ratz,&nbsp;Inon Sarig,&nbsp;Ido Burstain,&nbsp;Stephanie Benshushan,&nbsp;Fadi Kharouf","doi":"10.1155/2022/9694911","DOIUrl":"https://doi.org/10.1155/2022/9694911","url":null,"abstract":"<p><p>We report the case of a 29-year-old adult presenting with severe IgA vasculitis, with cutaneous, urologic, and renal manifestations. The late appearance of severe gastrointestinal bleeding dominated the clinical picture, necessitating the administration of tens of units of packed cells and the augmentation of the immunosuppressive protocol. It was not until therapy with intravenous immunoglobulin (IVIG) was introduced that the massive bleeding was controlled. We herein discuss the patient's presentation, the gastrointestinal manifestations of IgA vasculitis, the recommended treatments, and the existent evidence about IVIG therapy.</p>","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":" ","pages":"9694911"},"PeriodicalIF":0.0,"publicationDate":"2022-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9213203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40388869","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}
引用次数: 1
A Case of Anti-Jo-1 Myositis with Unique Biopsy Findings 具有独特活检结果的抗jo -1肌炎1例
Case Reports in Rheumatology Pub Date : 2022-06-06 DOI: 10.1155/2022/9096643
B. Zulfiqar, Pavel Aksionav, M. Bittar, C. Chapman
{"title":"A Case of Anti-Jo-1 Myositis with Unique Biopsy Findings","authors":"B. Zulfiqar, Pavel Aksionav, M. Bittar, C. Chapman","doi":"10.1155/2022/9096643","DOIUrl":"https://doi.org/10.1155/2022/9096643","url":null,"abstract":"Antisynthetase syndrome (ASS) or anti-Jo-1 antibody syndrome has a classic clinical presentation including arthritis, myositis, interstitial lung disease, mechanic hands, and/or Raynaud's phenomenon. The biopsy findings are distinctive from polymyositis or dermatomyositis. We describe an interesting case of ASS where a patient presented with significant muscle weakness, proteinuria, and interstitial lung disease. She also had positive Ro-52 antibodies in addition to anti-Jo-1 antibodies. Her biopsy findings were consistent with inflammatory necrotizing myositis.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88089465","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
Tophaceous Gout in the Pancreas: Case Reports and Review of the Literature 胰腺的痛风:病例报告和文献回顾
Case Reports in Rheumatology Pub Date : 2022-06-03 DOI: 10.1155/2022/3671627
Sooji Choi, N. Voskanian, Jeffrey Ramos, Katherine Nguyen
{"title":"Tophaceous Gout in the Pancreas: Case Reports and Review of the Literature","authors":"Sooji Choi, N. Voskanian, Jeffrey Ramos, Katherine Nguyen","doi":"10.1155/2022/3671627","DOIUrl":"https://doi.org/10.1155/2022/3671627","url":null,"abstract":"We report 3 patients who presented with abnormal pancreatic contents that were initially nondiagnostic but were eventually found to have urate crystal deposition consistent with pancreatic tophaceous gout. Our first case involved an ICU patient who had fever of unknown origin and refractory pancreatic pseudocyst. The other 2 patients presented with abdominal pain associated with a pancreatic mass which mimicked malignancy. After further investigation, we were able to identify pancreatic tophaceous gout as the diagnosis. Initiation of therapy led to resolution of pancreatitis in the first patient and resolution of abdominal pain and decrease in size of a pancreatic mass in the other 2 patients. The recognition of clinical gout involving the pancreas has important implications in the evaluation and care of these patients who are at high risk for tophaceous gout. In addition, the importance of specimen preparation that preserves crystals for viewing is discussed.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"80 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83848329","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: 3
A Case Report of Statin-Induced Immune-Mediated Necrotizing Myopathy Treatment Challenges 他汀类药物诱导的免疫介导的坏死性肌病治疗挑战1例报告
Case Reports in Rheumatology Pub Date : 2022-05-31 DOI: 10.1155/2022/4647227
Anwar I. Joudeh, M. K. Albuni, S. Hassen, Phool Iqbal, Elsaid M Aziz Bedair, Salah Mahdi
{"title":"A Case Report of Statin-Induced Immune-Mediated Necrotizing Myopathy Treatment Challenges","authors":"Anwar I. Joudeh, M. K. Albuni, S. Hassen, Phool Iqbal, Elsaid M Aziz Bedair, Salah Mahdi","doi":"10.1155/2022/4647227","DOIUrl":"https://doi.org/10.1155/2022/4647227","url":null,"abstract":"Statin-induced necrotizing autoimmune myopathy is an immune-mediated necrotizing myopathy related to the use of statins. It is a very rare disease, which usually presents with proximal muscle weakness and frank elevation in creatine kinase levels. Stopping statin and the use of immunosuppressive therapy are considered the mainstay therapy. Use of steroids in patients with inflammatory myopathy can be complicated by steroid-induced myopathy. Herein, we present a case of a 55-year-old patient with statin-induced necrotizing autoimmune myopathy based on the presence of proximal muscle weakness, magnetic resonance findings, suggestive muscle biopsy features, and positive anti-HMGCR autoantibodies. The patient was treated with triple immunosuppressive therapy with a particularly good response to intravenous immunoglobulin. This report highlights the importance of timely diagnosis and early use of combined immunosuppressive therapy to improve patients' outcome affected by this rare disease.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"39 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72775688","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: 4
Three's Company: Coexistence of Silicosis, Scleroderma, and Sjogren Syndrome in a Single Patient 三人行:矽肺、硬皮病和干燥综合征在同一患者中的共存
Case Reports in Rheumatology Pub Date : 2022-05-27 DOI: 10.1155/2022/4487638
Alexis Ziebelman, Shir Raibman-Spector, O. Gendelman
{"title":"Three's Company: Coexistence of Silicosis, Scleroderma, and Sjogren Syndrome in a Single Patient","authors":"Alexis Ziebelman, Shir Raibman-Spector, O. Gendelman","doi":"10.1155/2022/4487638","DOIUrl":"https://doi.org/10.1155/2022/4487638","url":null,"abstract":"We describe a patient who presented with silicosis, scleroderma, and Sjogren syndrome all at the same time. The diagnoses in this case are all associated with continuous exposure to crystalline silica at the patient's workplace. The following report discusses this unique presentation.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"9 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79221569","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: 1
Myocardial Infarction in a 7-Year-Old Girl with Polyarteritis Nodosa 7岁女童结节性多动脉炎心肌梗死1例
Case Reports in Rheumatology Pub Date : 2022-04-26 DOI: 10.1155/2022/2175676
Lina Bayazeed, Alaa Felimban, Abdulsalam Alsaiad, Fahd Alsufiani, J. Alqanatish
{"title":"Myocardial Infarction in a 7-Year-Old Girl with Polyarteritis Nodosa","authors":"Lina Bayazeed, Alaa Felimban, Abdulsalam Alsaiad, Fahd Alsufiani, J. Alqanatish","doi":"10.1155/2022/2175676","DOIUrl":"https://doi.org/10.1155/2022/2175676","url":null,"abstract":"Polyarteritis nodosa (PAN) is a rare systemic vasculitis that affects small to medium-sized arteries. It could affect any organ including the heart. However coronary artery involvements are very rare. We describe a young girl who presented following a histopathological diagnosis of PAN with acute chest pain, high serum troponin, and progressive ischemic changes in the electrocardiogram (ECG). Induction of remission of her disease was done with six-moths Cyclophosphamide infusions and pulse corticosteroids. In addition to anticoagulation and dual antithrombotic therapy, the disease remission was maintained with mycophenolate mofetil which helps in the recovery of coronary disease. Our case illustrates the serious cardiac involvement of PAN in a child that responded to intensive management.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79034568","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
Enthesitis in Bowel-Associated Dermatosis-Arthritis Syndrome in an Ulcerative Colitis Patient 溃疡性结肠炎患者肠道相关皮肤病-关节炎综合征并发肠炎
Case Reports in Rheumatology Pub Date : 2022-04-12 DOI: 10.1155/2022/4556250
Khalid S Alshahrani, A. Almohaya, Rayan S. Hussein, R. H. Ali
{"title":"Enthesitis in Bowel-Associated Dermatosis-Arthritis Syndrome in an Ulcerative Colitis Patient","authors":"Khalid S Alshahrani, A. Almohaya, Rayan S. Hussein, R. H. Ali","doi":"10.1155/2022/4556250","DOIUrl":"https://doi.org/10.1155/2022/4556250","url":null,"abstract":"Bowel-associated dermatosis-arthritis syndrome (BADAS) is a rare and recurrent neutrophilic dermatosis condition. Due to the rarity of this syndrome and the difficulty of the disease recognition and management, there was no clear reported incidence rate of this syndrome. 20% of patients after ileojejunal bypass surgery for morbid obesity were reported, by Jorizzo et al., to have BADAS. The underlying etiology of BADAS is not fully understood; therefore, the diagnosis of this condition is difficult and the approach for the management as well. Herein, we report a case of BADAS with unusual musculoskeletal presentation.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84319970","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: 2
A Case of Rapidly Progressing Hepatocellular Carcinoma after Administration of JAK Inhibitors to Treat Rheumatoid Arthritis JAK抑制剂治疗类风湿关节炎后快速进展的肝细胞癌一例
Case Reports in Rheumatology Pub Date : 2022-03-29 DOI: 10.1155/2022/6852189
Rioko Migita, Y. Kimoto, Junki Hiura, Yuta Okumura, T. Horiuchi
{"title":"A Case of Rapidly Progressing Hepatocellular Carcinoma after Administration of JAK Inhibitors to Treat Rheumatoid Arthritis","authors":"Rioko Migita, Y. Kimoto, Junki Hiura, Yuta Okumura, T. Horiuchi","doi":"10.1155/2022/6852189","DOIUrl":"https://doi.org/10.1155/2022/6852189","url":null,"abstract":"We report a case of rapidly progressing hepatocellular carcinoma after administration of Janus kinase (JAK) inhibitors to treat rheumatoid arthritis. A 76-year-old man was referred to our Department for pain in multiple joints and was diagnosed with rheumatoid arthritis. Blood tests revealed elevated hepatobiliary enzymes, but various tests revealed no signs suggestive of malignancy. He took baricitinib for 2 months followed by tofacitinib for 4 months. After that, he was diagnosed with hepatocellular carcinoma based on imaging findings and elevated tumor markers. This case showed the possibility of a causal relationship between JAK inhibitors and malignancy.","PeriodicalId":9622,"journal":{"name":"Case Reports in Rheumatology","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75584317","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
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