Journal of Rheumatic Diseases最新文献

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Carpal Tunnel Syndrome in Patients with Psoriatic Arthritis: Ultrasonography and Magnetic Resonance Imaging Findings. 银屑病关节炎患者的腕管综合征:超声和磁共振成像结果。
IF 2
Journal of Rheumatic Diseases Pub Date : 2023-01-01 DOI: 10.4078/jrd.22.0028
Ezgi Akyildiz Tezcan, Funda Levendoglu, Mehmet Sedat Durmaz, Hasan Kara, Elif Balevi Batur, Ilknur Albayrak Gezer, Muslu Kazım Korez
{"title":"Carpal Tunnel Syndrome in Patients with Psoriatic Arthritis: Ultrasonography and Magnetic Resonance Imaging Findings.","authors":"Ezgi Akyildiz Tezcan,&nbsp;Funda Levendoglu,&nbsp;Mehmet Sedat Durmaz,&nbsp;Hasan Kara,&nbsp;Elif Balevi Batur,&nbsp;Ilknur Albayrak Gezer,&nbsp;Muslu Kazım Korez","doi":"10.4078/jrd.22.0028","DOIUrl":"https://doi.org/10.4078/jrd.22.0028","url":null,"abstract":"<p><strong>Objective: </strong>The aim of the present study is to assess carpal tunnel syndrome's (CTS's) ultrasonography (US) and magnetic resonance imaging (MRI) findings in patients with psoriatic arthritis (PsA) and compare them with healthy controls.</p><p><strong>Methods: </strong>Thirty-nine PsA and twenty-eight healthy volunteers were examined in this study. Demographic and clinical features were recorded. CTS-6, a diagnostic algorithm, was used to estimate the probability of CTS. Electrodiagnostic study (EDS) was applied to all wrists included in the report, where the diagnosis of CTS was made by EDS. The cross-sectional area (CSA) of the median nerve was measured at pisiform bone level by US and MRI.</p><p><strong>Results: </strong>Regarding to the demographic characteristics, no statistically significant difference was found between the groups. Twelve of 39 (30.76%) PsA patients had CTS, whereas CTS was not detected in the control group (p=0.001). US and MRI showed increased median nerve CSA in PsA patients compared to healthy controls (p=0.005, p<0.001; respectively). Also, US and MRI showed increased median nerve CSA in CTS patients compared to others (p=0.002, p<0.001; respectively). The Pearson correlation coefficient between MRI and US measurements of the CSA was 0.85 (p<0.001).</p><p><strong>Conclusion: </strong>CTS frequency in PsA patients is found higher than healthy controls. The relationship between CTS diagnosed by EDS and CSA measured by both US and MRI was observed in PsA patients.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/02/60/jrd-30-1-36.PMC10351357.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9848123","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: 3
Implication of Serious Infections in Patients With Antineutrophil Cytoplasmic Antibody-Associated Vasculitis for the First Cycle of Rituximab: A Pilot Study in a Single Korean Center. 利妥昔单抗第一周期抗中性粒细胞细胞质抗体相关血管炎患者严重感染的意义:一项在韩国单一中心进行的试点研究。
IF 2
Journal of Rheumatic Diseases Pub Date : 2023-01-01 Epub Date: 2022-12-06 DOI: 10.4078/jrd.22.0033
Hyunsue Do, Jung Yoon Pyo, Sup, Sup, Jason Jungsik Song, Sup, Sup, Yong-Beom Park, Sup, Sup, Sang-Won Lee, Sup, Sup
{"title":"Implication of Serious Infections in Patients With Antineutrophil Cytoplasmic Antibody-Associated Vasculitis for the First Cycle of Rituximab: A Pilot Study in a Single Korean Center.","authors":"Hyunsue Do,&nbsp;Jung Yoon Pyo,&nbsp;Sup,&nbsp;Sup,&nbsp;Jason Jungsik Song,&nbsp;Sup,&nbsp;Sup,&nbsp;Yong-Beom Park,&nbsp;Sup,&nbsp;Sup,&nbsp;Sang-Won Lee,&nbsp;Sup,&nbsp;Sup","doi":"10.4078/jrd.22.0033","DOIUrl":"10.4078/jrd.22.0033","url":null,"abstract":"<p><strong>Objective: </strong>This study investigated the clinical implications of serious infections in patients with antineutrophil cytoplasmic antibody-associated vasculitis (AAV) who received the first cycle of rituximab (RTX) during the first 6 months of follow-up.</p><p><strong>Methods: </strong>The medical records of 36 AAV patients treated with RTX were reviewed. A weekly dose of 375 mg/m2 RTX was administered for 4 weeks to all patients along with glucocorticoids. Serious infections were defined as those requiring hospitalization. All-cause mortality during the first 6 months of follow-up was counted. The follow-up duration was defined as the period from the first RTX infusion to 6 months after the first RTX infusion.</p><p><strong>Results: </strong>The median age was 60.5 years, and 16 patients were male. Seven of 36 patients (19.4%) died and three AAV patients had five cases of serious infection such as enterocolitis, pulmonary aspergillosis, atypical pneumonia, cytomegalovirus pneumonia, and cellulitis. AAV patients with serious infections during the first 6 months of follow-up exhibited a significantly lower cumulative survival rate than those without serious infections (p<0.001). However, we found no independent predictor of serious infections using the Cox hazard model analysis.</p><p><strong>Conclusion: </strong>Serious infection is an important predictor of all-cause mortality in Korean patients with AAV who received their first cycle of RTX but there were no significant variables to predict the occurrence of serious infections at the first RTX. Thus, in cases refractory to other induction therapies, RTX should be strongly considered, despite an increase in mortality rate.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/53/72/jrd-30-1-45.PMC10351358.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9848130","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
Treatment Sequence After Initiating Biologic Therapy for Patients With Rheumatoid Arthritis in Korea: A Nationwide Retrospective Cohort Study. 韩国类风湿关节炎患者开始生物治疗后的治疗顺序:全国性回顾性队列研究》。
IF 2.2
Journal of Rheumatic Diseases Pub Date : 2023-01-01 Epub Date: 2022-08-30 DOI: 10.4078/jrd.22.0024
Min Jung Kim, Jun Won Park, Sun-Kyung Lee, Yumi Jang, Soyoung Kim, Matthias Stoelzel, Jonathan Lumen Chua, Kichul Shin
{"title":"Treatment Sequence After Initiating Biologic Therapy for Patients With Rheumatoid Arthritis in Korea: A Nationwide Retrospective Cohort Study.","authors":"Min Jung Kim, Jun Won Park, Sun-Kyung Lee, Yumi Jang, Soyoung Kim, Matthias Stoelzel, Jonathan Lumen Chua, Kichul Shin","doi":"10.4078/jrd.22.0024","DOIUrl":"10.4078/jrd.22.0024","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate treatment patterns and healthcare resource utilization (HCRU) after initiating biologic disease-modifying antirheumatic drugs (bDMARDs) in Korean patients with rheumatoid arthritis (RA).</p><p><strong>Methods: </strong>Patients newly diagnosed with RA in 2014 were identified and followed up on using the Korean National Health Insurance Database until 2018. The initial line of therapy (LOT) or LOT1 included patients treated with conventional DMARDs (cDMARD). Patients who started a bDMARD were assigned to LOT2 bDMARD. Those who moved from a bDMARD to a Janus kinase inhibitor were assigned to LOT3. Analyzed outcomes were treatment patterns and HCRU in LOT2 bDMARD.</p><p><strong>Results: </strong>The most prescribed initial bDMARD was a tumor necrosis factor inhibitor. Seventy-five percent of patients had changes in treatment after starting a bDMARD, such as addition/removal or switch of a DMARD, and transition to LOT3. For the first and second changes in LOT2 bDMARD, adding a cDMARD to a bDMARD was more common than switching to another bDMARD (7.98% vs. 2.93% for the first change, and 17.10% vs. 6.51% for the second change). Tocilizumab was the most common bDMARD that was switched to. Forty-eight percent of patients had at least one hospitalization after initiating bDMARDs. Of these patients, 64.3% were admitted due to RA-related reasons.</p><p><strong>Conclusion: </strong>This real-world study provides information on treatment characteristics of RA patients in Korea after starting a bDMARD. In contrary to guidelines, cDMARD addition was more often than bDMARD switches in daily clinical practice.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/10/jrd-30-1-26.PMC10351354.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9851195","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: 0
Tumor-like Presentation of Cerebral Vasculitis in a Patient With Systemic Lupus Erythematosus: A Biopsy-confirmed Case. 系统性红斑狼疮患者的肿瘤样脑血管炎表现:活检证实一例。
IF 2
Journal of Rheumatic Diseases Pub Date : 2023-01-01 DOI: 10.4078/jrd.22.0022
Na Ri Kim, Jong Wan Kang, Eon Jeong Nam
{"title":"Tumor-like Presentation of Cerebral Vasculitis in a Patient With Systemic Lupus Erythematosus: A Biopsy-confirmed Case.","authors":"Na Ri Kim,&nbsp;Jong Wan Kang,&nbsp;Eon Jeong Nam","doi":"10.4078/jrd.22.0022","DOIUrl":"https://doi.org/10.4078/jrd.22.0022","url":null,"abstract":"<p><p>Central nervous system (CNS) manifestations of systemic lupus erythematosus (SLE) are diverse and often difficult to distinguish from SLE-unrelated events. CNS vasculitis is a rare manifestation, which is seen in less than 10% of post-mortem studies, and lesions with multifocal cerebral cortical microinfarcts associated with small-vessel vasculitis are the predominant feature. However, CNS vasculitis presenting as a tumor-like mass lesion in SLE has rarely been reported. Herein, we report a case of cerebral vasculitis mimicking a brain tumor in a 39-year-old female with SLE. A biopsy of the brain mass revealed fibrinoid necrosis and leukocytoclastic vasculitis. The neurological deficits and systemic symptoms improved after treatment with corticosteroids and immunosuppressive agents. To the best of our knowledge, there are no reports of biopsy-proven cerebral vasculitis presenting as a brain mass in patients with SLE in Korea.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/35/d6/jrd-30-1-53.PMC10351352.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9850325","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: 0
Development of Spondyloarthritis After COVID-19 in HLA-B27-Positive Monozygotic Twins: Case Reports With Single Cell Transcriptome Profiling. hla - b27阳性的同卵双胞胎在COVID-19后发生脊椎关节炎:单细胞转录组分析的病例报告
IF 2
Journal of Rheumatic Diseases Pub Date : 2023-01-01 DOI: 10.4078/jrd.22.0027
Minae Oh, Jung Gon Kim, In-Pyo Baek, Ji Hyeon Ju, Sup, Sup
{"title":"Development of Spondyloarthritis After COVID-19 in HLA-B27-Positive Monozygotic Twins: Case Reports With Single Cell Transcriptome Profiling.","authors":"Minae Oh,&nbsp;Jung Gon Kim,&nbsp;In-Pyo Baek,&nbsp;Ji Hyeon Ju,&nbsp;Sup,&nbsp;Sup","doi":"10.4078/jrd.22.0027","DOIUrl":"https://doi.org/10.4078/jrd.22.0027","url":null,"abstract":"<p><p>A subset of spondyloarthritis (SpA) called 'reactive arthritis' is triggered by causal pathogens, usually bacteria related to venereal disease or gastrointestinal infection. During the outbreak of coronavirus disease 2019 (COVID-19), there have been case reports about SpA after COVID-19, but the causality is still elusive. We described cases of 23-year-old monozygotic twins both diagnosed with SpA after COVID-19. The probable linkage between SpA and COVID-19 was elaborated with our cases as well as literature reviews. Of note, shared genetic traits by monozygotic twins, particularly HLA-B27 positivity, might have contributed to their susceptibility to COVID-19-induced SpA. Moreover, single-cell transcriptome analysis revealed that the transcriptomic profile of peripheral compartment of SpA after COVID-19 was distinctive from that of typical radiographic axial SpA as shown by differential expression of ribosomal protein S26 (RPS26) and small nucleolar RNA host gene 5 (SNHG5) in nearly all subsets of peripheral blood mononuclear cells.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8e/87/jrd-30-1-58.PMC10351351.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9851196","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: 0
Positive Effects of Biologics on Osteoporosis in Rheumatoid Arthritis. 生物制剂对类风湿关节炎骨质疏松的积极作用。
IF 2
Journal of Rheumatic Diseases Pub Date : 2023-01-01 DOI: 10.4078/jrd.22.0046
Yunkyung Kim, Geun-Tae Kim
{"title":"Positive Effects of Biologics on Osteoporosis in Rheumatoid Arthritis.","authors":"Yunkyung Kim,&nbsp;Geun-Tae Kim","doi":"10.4078/jrd.22.0046","DOIUrl":"https://doi.org/10.4078/jrd.22.0046","url":null,"abstract":"<p><p>Osteoporosis is a systemic skeletal disorder that causes vulnerability of bones to fracture owing to reduction in bone density and deterioration of the bone tissue microstructure. The prevalence of osteoporosis is higher in patients with autoimmune inflammatory rheumatic diseases, including rheumatoid arthritis (RA), than in those of the general population. In this autoimmune inflammatory rheumatic disease, in addition to known risk factors for osteoporosis, various factors such as chronic inflammation, autoantibodies, metabolic disorders, drugs, and decreased physical activity contribute to additional risk. In RA, disease-related inflammation plays an important role in local or systemic bone loss, and active treatment for inflammation can help prevent osteoporosis. In addition to conventional synthetic disease-modifying anti-rheumatic drugs that have been traditionally used for treatment of RA, biologic DMARDs and targeted synthetic DMARDs have been widely used. These agents can be employed more selectively and precisely based on disease pathogenesis. It has been reported that these drugs can inhibit bone loss by not only reducing inflammation in RA, but also by inhibiting bone resorption and promoting bone formation. In this review, the pathogenesis and research results of the increase in osteoporosis in RA are reviewed, and the effects of biological agents on osteoporosis are discussed.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/43/81/jrd-30-1-3.PMC10351356.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9848127","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: 0
Erratum: Addendum of Conflict of Interest. 勘误表:利益冲突附录。
IF 2
Journal of Rheumatic Diseases Pub Date : 2023-01-01 DOI: 10.4078/jrd.2023e1
Journal Of Rheumatic Diseases Editorial Office
{"title":"Erratum: Addendum of Conflict of Interest.","authors":"Journal Of Rheumatic Diseases Editorial Office","doi":"10.4078/jrd.2023e1","DOIUrl":"10.4078/jrd.2023e1","url":null,"abstract":"<p><p>[This corrects the article on p. 0 in vol. 0.].</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bd/b2/jrd-30-1-65.PMC10351350.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9849476","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: 0
A Challenging Target: Persistent Pain During the Remission State in Rheumatoid Arthritis Patients. 一个具有挑战性的目标:类风湿关节炎患者缓解期持续疼痛。
IF 2
Journal of Rheumatic Diseases Pub Date : 2023-01-01 DOI: 10.4078/jrd.22.0047
Doo-Ho Lim
{"title":"A Challenging Target: Persistent Pain During the Remission State in Rheumatoid Arthritis Patients.","authors":"Doo-Ho Lim","doi":"10.4078/jrd.22.0047","DOIUrl":"https://doi.org/10.4078/jrd.22.0047","url":null,"abstract":"www.jrd.or.kr Pain is an important symptom in patients with rheumatoid arthritis (RA) and can cause various physical and psychological impairments [1]. Despite recent advances in disease-modifying anti-rheumatic drugs (DMARDs) and the treat-to-target approaches for improved management of inflammation, rheumatologists often encounter patients in the clinic with complaints of moderate to severe pain [2]. In this point, a study by Kim et al. [3] reported in the previous issue of the Journal of Rheumatic Diseases provides important implications of using a multidimensional approach to pain management in RA patients. Pain in RA patients is caused due to several underlying mechanisms. In addition to the inflammatory pain caused by local and systemic cytokine effects, arthritis pain results from simple mechanical stimulations such as weight-bearing and joint movement (nociceptive pain). Changes in the articular environment due to structural joint damage and chronic inflammation can increase neuronal innervation or sensitize peripheral nociceptors at the joint site (peripheral pain sensitization) [4]. Recent studies using functional magnetic resonance imaging have shown increased and modulated cortical responses to pain stimuli in the central nervous system, suggesting a role of central processing in RA-associated pain (central pain sensitization) [5,6]. Moreover, RA patients have a higher prevalence of mood disorders including depression and anxiety compared to healthy individuals, and the psychological distress has been associated with increased levels of pain [7]. The pain characteristics described in RA patients may include symptoms such as aches, shooting or sharp pain, among others, which may be temporary, constant, or weight bearingrelated [8]. An appropriate description of pain obtained from the clinical history and physical examination may aid in elucidation of each pain mechanism underlying RA, or indicate the mechanisms triggered by separate comorbid conditions, including osteoarthritis, fibromyalgia, carpal tunnel syndrome, and depression. Imaging plays a supportive role in measuring disease activity of RA and detecting comorbidities [9]. Plain radiography can detect osteopenia, joint space narrowing, erosion, and osteophytes; however, it is not sensitive so to be better at diagnosing late-stage disease. In recent years, musculoskeletal ultrasonography has emerged as an imaging modality for measuring disease states in RA and osteoarthritis with greater sensitivity and specificity compared to plain radiography. A negative result obtained by musculoskeletal ultrasonography may also be suggestive of other etiologies of pain including fibromyalgia. Persistent or residual pain accompanying an inflammatory remission state is one of the most significant unmet needs in RA patients. In a previous study, Lee et al. [10] mentioned that approximately 47 percent of RA patients with low levels of inflammation reported moderate to high levels of pain, and th","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/12/f1/jrd-30-1-1.PMC10351353.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9928883","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: 0
Epidemiology and Treatment of Systemic Sclerosis in Korea. 韩国系统性硬化症的流行病学和治疗。
IF 2.2
Journal of Rheumatic Diseases Pub Date : 2022-10-01 DOI: 10.4078/jrd.22.0029
Seung-Geun Lee, Ki Won Moon
{"title":"Epidemiology and Treatment of Systemic Sclerosis in Korea.","authors":"Seung-Geun Lee, Ki Won Moon","doi":"10.4078/jrd.22.0029","DOIUrl":"10.4078/jrd.22.0029","url":null,"abstract":"<p><p>Systemic sclerosis (SSc), a rare, chronic progressive systemic autoimmune disease of unknown etiology, is characterized by autoimmunity, tissue fibrosis, and obliterative vasculopathy. SSc can affect all major organs including the skin, blood vessels, lung, heart, kidneys, and gastrointestinal tract. Our understanding of its pathogenesis has increased over the past few decades, leading to improved diagnosis and treatment. However, the mortality rate of SSc remains considerable, mainly due to cardiopulmonary causes. A growing body of evidence suggests that geographical, regional, and ethnic differences could affect the epidemiology, clinical characteristics and prognosis of SSc. Although Korean data of this issue are lacking, a considerable amount of research has been published by many Korean researchers. To establish treatment strategies for Korean patients, extensive Korean research data are needed. This review summarizes the prevalence, incidence, mortality, and clinical and laboratory manifestations of Korean patients with SSc and discusses the current trends in evidence-based treatment and recommendations.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8e/43/jrd-29-4-200.PMC10351407.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9850315","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: 0
Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea. 包括剪接变异在内的双等位基因变异引起的腺苷脱氨酶2缺陷:韩国首例。
IF 2
Journal of Rheumatic Diseases Pub Date : 2022-10-01 DOI: 10.4078/jrd.21.0046
Sun Cho, Seongyeol Park, Jeong Seok Lee, Young Seok Ju, Yun Jung Choi, Soyoung Lee
{"title":"Adenosine Deaminase 2 Deficiency Caused by Biallele Variants Including Splicing Variant: The First Case in Korea.","authors":"Sun Cho,&nbsp;Seongyeol Park,&nbsp;Jeong Seok Lee,&nbsp;Young Seok Ju,&nbsp;Yun Jung Choi,&nbsp;Soyoung Lee","doi":"10.4078/jrd.21.0046","DOIUrl":"https://doi.org/10.4078/jrd.21.0046","url":null,"abstract":"<p><p>Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by pathogenic variants of the <i>ADA2</i> gene and has similar clinical features to polyarteritis nodosa (PAN). We, herein, report a case of DADA2 in Korea that was diagnosed in a patient with childhood-onset PAN. The patient had a truncal ataxia and facial palsy caused by thalamic infarction at 34 months of age. Livedo reticularis with Raynaud phenomenon and abdominal pain with fever were followed. Radiologic examination showed multiple infarctions in brain and kidney. She was diagnosed with PAN using skin biopsy and angiography. She had severe hemorrhagic strokes despite medical treatments. Her disease activity was controlled after adding a tumor necrosis factor-α inhibitor. Molecular analysis revealed compound heterozygous pathogenic variants of <i>ADA2</i> gene. This is the first case of DADA2 in Korea. Genetic analysis for <i>ADA2</i> gene should be considered in patients with childhood-onset PAN.</p>","PeriodicalId":56161,"journal":{"name":"Journal of Rheumatic Diseases","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f8/80/jrd-29-4-254.PMC10351412.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9848122","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: 0
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