{"title":"Contentious Issues in Gout Management: The Story so Far.","authors":"Mohamed Talaat, Kyle Park, Naomi Schlesinger","doi":"10.2147/OARRR.S282631","DOIUrl":"https://doi.org/10.2147/OARRR.S282631","url":null,"abstract":"<p><p>Gout is the most common inflammatory arthritis worldwide. Although gout has been known for antiquity, many challenges still exist in gout management. It is vital to view gout as a chronic disease and not just treat the acute flare. There is a perception of gout as an acute disease requiring treatment only for acute flares. However, to combat the disease, chronic urate-lowering therapy, reducing the serum urate levels to below the saturation threshold of 6.8 mg/dL, and chronic anti-inflammatory prophylaxis, especially during urate-lowering therapy initiation, are needed. In this manuscript, we discuss some of the contentious issues in gout management. These include the timing of urate-lowering therapy initiation, which urate-lowering therapy to chose, should comorbidities influence our treatment, using genetic determinants, and patient perspectives to drive treatment and differences between gout treatment the American College of Physicians and Rheumatology guidelines for gout management: driving care.</p>","PeriodicalId":45545,"journal":{"name":"Open Access Rheumatology-Research and Reviews","volume":"13 ","pages":"111-122"},"PeriodicalIF":2.1,"publicationDate":"2021-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/07/68/oarrr-13-111.PMC8126966.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38999702","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":"Rheumatoid Arthritis Onset from Shoulder Monoarthritis.","authors":"Koji Ishida, Keita Nagira, Hiroshi Hagino, Makoto Enokida, Ikuta Hayashi, Masako Hayashibara, Chikako Takeda, Hideki Nagashima","doi":"10.2147/OARRR.S297106","DOIUrl":"https://doi.org/10.2147/OARRR.S297106","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the incidence and clinical characteristics of rheumatoid arthritis (RA) presenting with shoulder monoarthritis.</p><p><strong>Patients and methods: </strong>Our study included 113 patients (77 females; mean age, 63.0 ± 13.1 years) whom we newly diagnosed with RA in 2012-2016. We investigated cases with onset from shoulder monoarthritis. Specifically, we examined physical findings, blood test results, radiographic findings, magnetic resonance imaging (MRI) findings, and duration from initial visit to diagnosis. RA was diagnosed based on the 2010 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) classification criteria.</p><p><strong>Results: </strong>Overall, mean 2010 ACR/EULAR criteria score was 6.8 ± 1.8, and median duration to diagnosis was 3 days (interquartile range: 0-14). Two patients (1.8%) were identified as having RA with onset from shoulder monoarthritis. Both were late middle-aged women with MRI findings of rotator cuff tear and remarkable synovial proliferation. However, neither patient fulfilled the 2010 ACR/EULAR criteria. It took 85 and 98 days to make a definitive diagnosis, respectively.</p><p><strong>Conclusion: </strong>Early diagnosis is difficult when RA synovitis develops from shoulder monoarthritis, especially, in elderly patients who have a rotator cuff tear. In addition to MRI, culture-based and pathological examinations may be helpful for early diagnosis of RA.</p>","PeriodicalId":45545,"journal":{"name":"Open Access Rheumatology-Research and Reviews","volume":"13 ","pages":"103-109"},"PeriodicalIF":2.1,"publicationDate":"2021-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/12/43/oarrr-13-103.PMC8113011.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38987559","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}
Felix Bongomin, Barbra Natukunda, Maria Sekimpi, Ronald Olum, Joseph Baruch Baluku, Anthony Makhoba, Mark Kaddumukasa
{"title":"High Prevalence of Depressive Symptoms Among Ugandan Patients with Rheumatoid Arthritis.","authors":"Felix Bongomin, Barbra Natukunda, Maria Sekimpi, Ronald Olum, Joseph Baruch Baluku, Anthony Makhoba, Mark Kaddumukasa","doi":"10.2147/OARRR.S306503","DOIUrl":"https://doi.org/10.2147/OARRR.S306503","url":null,"abstract":"<p><strong>Background: </strong>There is a scarcity of data on the burden of depression among Ugandans with rheumatoid arthritis (RA) patients. We aimed to screen for symptoms of depression, their severity and associated factors among patients with RA in Uganda.</p><p><strong>Patients and methods: </strong>A descriptive, cross-sectional study was conducted between September and December 2020 at Mulago National Referral Hospital (MNRH) and Nsambya Hospital. Patients with RA were enrolled consecutively. Data on demographics, disease course and comorbidities and depression symptomatology were collected through an interviewer administered questionnaire. Symptoms of depression were screened for using the depression/anxiety dimension of the EuroQoL questionnaire.</p><p><strong>Results: </strong>Forty-eight patients with a median age of 52 (IQR: 43.5-60.5) years were recruited in the study. The majority of the patients were female (91.7%, n=44). Twenty-nine patients (60.4%) had comorbidities with a median Charlson comorbidity score of 3 (IQR: 2-4). Overall, 70.8% (n=34) had depressive symptoms. Patients attending MNRH were more likely to have depressive symptoms (p=0.025). Significantly, patients with depressive symptoms were younger (p=0.027), had lower health index value (p<0.001), and lower overall self-reported health status (p=0.013). At binary logistic regression, patients at MNRH (crude odds ratio (COR): 4.32, 95% confidence interval (CI): 1.16-16.15, P=0.030), patients aged <52 years (COR: 5.24, 95% CI: 1.23-22.28, P=0.025) and those with mild RA (COR: 5.71, 95% CI: 1.15-28.35, P=0.033) were significantly more likely to have depressive symptoms. Increase in age (COR: 0.94, 95% CI: 0.89-0.99, P=0.025), and high visual analogue score (COR: 0.94, 95% CI: 0.89-0.99, P=0.013) were protective.</p><p><strong>Conclusion: </strong>Depressive symptoms were common among RA patients in Uganda. Routine screening, diagnosis and management of depression is recommended among young patients to improve quality of life and patient outcomes.</p>","PeriodicalId":45545,"journal":{"name":"Open Access Rheumatology-Research and Reviews","volume":"13 ","pages":"93-102"},"PeriodicalIF":2.1,"publicationDate":"2021-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5f/bc/oarrr-13-93.PMC8106476.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38902308","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}
Barbara Ruaro, Tania Santiago, Michael Hughes, Gemma Lepri, Gabriele Poillucci, Elisa Baratella, Francesco Salton, Marco Confalonieri
{"title":"The Updated Role of Ultrasound in Assessing Dermatological Manifestations in Systemic Sclerosis.","authors":"Barbara Ruaro, Tania Santiago, Michael Hughes, Gemma Lepri, Gabriele Poillucci, Elisa Baratella, Francesco Salton, Marco Confalonieri","doi":"10.2147/OARRR.S282612","DOIUrl":"10.2147/OARRR.S282612","url":null,"abstract":"<p><p>Systemic sclerosis (SSc), an autoimmune connective tissue disease, characterized by skin fibrosis, increased dermal thickness and microvascular involvement. Fibroblasts and myofibroblasts deposit excessive amounts of collagenous and non-collagenous extracellular matrix components in the skin. This leads to microvascular abnormalities and Raynaud's phenomenon, with painful digital ulcers (DU) at the fingertips adding to patient discomfort. The skin involvement and severity in SSc was evaluated by the Modified Rodnan skin score (mRSS). Although high-frequency ultrasound (HUS) has been widely researched in the study of skin thickness and DU in SSc, its adoption into clinical practice is not yet common. However, novel insights into the still relatively unknown disease pathogenesis in SSc and its evaluation may be provided by HUS, including early (pre-clinical) skin involvement. It may also be useful in both the evaluation and follow-up of DU. Indeed, it is a non-invasive, safe, inexpensive and reproducible method able to assess not only SSc patients' cutaneous structural changes, but also their vascular system changes. Moreover, several recent studies have reported that elastosonography (ES) is of use when investigating skin involvement in systemic sclerosis. This review aims at providing information as to role HUS and ES play in research advancements and the clinical perspectives in the evaluation of skin thickness and DU in SSc patients.</p>","PeriodicalId":45545,"journal":{"name":"Open Access Rheumatology-Research and Reviews","volume":"13 ","pages":"79-91"},"PeriodicalIF":1.7,"publicationDate":"2021-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/d5/oarrr-13-79.PMC8092351.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38963512","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}
Alfredomaria Lurati, Antonella Laria, Daniela Mazzocchi, Katia Angela Re, Maria Grazia Marrazza, Paola Maria Faggioli, Antonino Mazzone
{"title":"Improvement of HbA1c in Patients with Type 2 Diabetes Mellitus and Rheumatoid Arthritis Treated with bDMARDs.","authors":"Alfredomaria Lurati, Antonella Laria, Daniela Mazzocchi, Katia Angela Re, Maria Grazia Marrazza, Paola Maria Faggioli, Antonino Mazzone","doi":"10.2147/OARRR.S302679","DOIUrl":"https://doi.org/10.2147/OARRR.S302679","url":null,"abstract":"<p><strong>Objective: </strong>The aim of our study was to evaluate the possible role of biological treatments for rheumatoid arthritis (RA) in improving the glycemic profile in patients affected not only by RA but also by type 2 diabetes mellitus (2TDM).</p><p><strong>Methods: </strong>An observational retrospective study was conducted using data from patients referred to our Rheumatology Unit. Patients with active RA despite standard DMARDs therapy and concomitant 2TDM were selected into one of five exposure groups to first-line bDMARDs (adalimumab, golimumab, etanercept, tocilizumab, sarilumab) and observed for the outcome of CRP, ESR, DAS28CRP and glycated hemoglobin (HbA1c) variations.</p><p><strong>Results: </strong>After the start of treatment, there was a significant reduction in the values of acute phase reactants ESR and CRP (p<0.01), DAS28-CRP (p<0.01) and HbA1C (p<0.05), in the absence of any confounding factors such as a reduction in BMI or a change in steroid doses. There was no statistically significant difference between the various treatments. Anti-IL6 drugs appear to be associated with a slightly greater reduction in HbA1c values, bordering on statistical significance (p=0.047).</p><p><strong>Conclusion: </strong>Initiation of a bDMARD appears to be associated with an improvement in concomitant 2TDM in patients with active RA, which, in the first hypothesis, is linked with a reduction of the inflammatory milieu.</p>","PeriodicalId":45545,"journal":{"name":"Open Access Rheumatology-Research and Reviews","volume":"13 ","pages":"73-78"},"PeriodicalIF":2.1,"publicationDate":"2021-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4a/9c/oarrr-13-73.PMC8092350.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38954040","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":"Patient Perspectives on a Digital Mobile Health Application for RA.","authors":"Simran Chahal, Norma Biln, Bruce Clarke","doi":"10.2147/OARRR.S296541","DOIUrl":"https://doi.org/10.2147/OARRR.S296541","url":null,"abstract":"<p><strong>Background: </strong>Emerging evidence suggests that patients are increasingly willing to use digital mobile health applications for rheumatoid arthritis (RA apps). The development and diffusion of RA apps open the possibility of improved management of the disease and better physician-patient interactions. However, adoption rates among apps have been lower than hoped, and research shows that many available RA apps lack key features. There is little research exploring patient preferences for RA apps or patients' habits and preferences for app payment, which are likely key factors affecting adoption of this technology. This study seeks to understand characteristics of RA patients who have adopted RA apps, their preferences for app features, and their willingness to pay for, and experiences with app payment.</p><p><strong>Methods: </strong>Data for this study come from a 33-question online survey of patients with RA in Canada and the United States (N=30). Information on demographics, diagnosis and management of RA, current use and desired features of RA apps, and prior experience with and willingness to pay for an app was collected. Descriptive statistics are reported, and bivariate analyses (chi-square, point-biserial correlation, and ANOVA) were performed to understand relationships between variables.</p><p><strong>Results: </strong>Respondents showed a clear preference for certain app features, namely symptom tracking, scheduling appointments, and reminders. Physician recommendation for an app and patient tracking of symptoms with an app were significantly related to patient adoption of an RA app. Years since diagnosis with RA, physician recommendation for an RA app, and current use of a non-RA health tracking app were significantly related to patients' willingness to pay a subscription for an RA app.</p><p><strong>Conclusion: </strong>RA patients appear to prefer task support features in an RA app, notably symptom tracking, appointment scheduling, and reminders, over other features such as those related to dialogue support and social support. The choice of whether an RA app will be free or based on a subscription, pay-per-service, or one-time purchase model may also play a role in eventual adoption. Similarly, physician recommendation appears to influence patients' decision to use an RA app as well as their willingness to pay a subscription for an app.</p>","PeriodicalId":45545,"journal":{"name":"Open Access Rheumatology-Research and Reviews","volume":"13 ","pages":"63-71"},"PeriodicalIF":2.1,"publicationDate":"2021-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a0/0f/oarrr-13-63.PMC8080430.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38939596","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}
Nizar Al-Ani, Faiq Gorial, Dina Yasiry, Fadya Al Derwibee, Yasameen Abbas Humadi, Nancy Sunna, Ali AlJabban
{"title":"Clinical Outcomes in Iraqi Patients with Rheumatoid Arthritis Following Earlier or Later Treatment with Etanercept.","authors":"Nizar Al-Ani, Faiq Gorial, Dina Yasiry, Fadya Al Derwibee, Yasameen Abbas Humadi, Nancy Sunna, Ali AlJabban","doi":"10.2147/OARRR.S300838","DOIUrl":"https://doi.org/10.2147/OARRR.S300838","url":null,"abstract":"<p><strong>Purpose: </strong>The development of evidence-based guidelines on early pharmacotherapeutic treatment of rheumatoid arthritis (RA) could be useful in Middle Eastern nations striving to improve outcomes in patients with this chronic, debilitating disease. Evidence obtained from local populations should inform such guidelines and therefore our aim was to use real-world data to evaluate the clinical responses of Iraqi patients with RA who received earlier or later treatment with the TNF inhibitor etanercept.</p><p><strong>Patients and methods: </strong>Data from patients registered in the Iraq National Center of Rheumatology database from May 2012 to December 2018, inclusive, were analyzed retrospectively. Inclusion criteria were age ≥18 years, meeting the ACR/EULAR 2010 criteria for RA, referral for etanercept treatment, and ≥1 year of follow-up after etanercept initiation. Patients were excluded if they had received another biologic for RA. Included patients were categorized according to two separate stratifications: whether duration of RA symptoms prior to etanercept initiation was ≤10 or >10 years (10 years represented the mean duration for the entire analysis population); and according to whether duration of RA symptoms prior to etanercept initiation was ≤1, >1 to ≤4, >4 to ≤10, >10 to ≤20, or >20 years. The evaluated outcomes were mean change from baseline in Clinical Disease Activity Index (CDAI) and 28-joint Disease Activity Score (DAS28) after 1 year of etanercept treatment.</p><p><strong>Results: </strong>A total of 979 patients were included. CDAI and DAS28 were significantly reduced (p<0.001 for both) after 1 year of etanercept treatment irrespective of whether duration of RA symptoms prior to treatment was ≤10 or >10 years. Patients with RA symptoms for ≤1 year prior to etanercept initiation showed a significant reduction in CDAI after 1 year of treatment (p=0.01).</p><p><strong>Conclusion: </strong>Iraqi patients with RA who received earlier treatment with etanercept had superior outcomes compared with those who received later treatment.</p>","PeriodicalId":45545,"journal":{"name":"Open Access Rheumatology-Research and Reviews","volume":"13 ","pages":"57-62"},"PeriodicalIF":2.1,"publicationDate":"2021-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2c/ef/oarrr-13-57.PMC8064720.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38915292","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":"Beyond Rheumatoid Arthritis Evaluation: What are We Missing?","authors":"Gianna Espinoza, Genessis Maldonado, Jemina Narvaez, Roberto Guerrero, Gustavo Citera, Carlos Rios","doi":"10.2147/OARRR.S298393","DOIUrl":"10.2147/OARRR.S298393","url":null,"abstract":"<p><p>Rheumatoid Arthritis (RA) is a chronic inflammatory autoimmune systemic disease that preferentially affects small and large joints with a progressive course and can become deforming and disabling. In recent years, much progress has been made in the evaluation of inflammation and disease activity, however, there are other factors that have a high impact on the quality of life of these patients, such as depression, anxiety, fatigue, sleep disorders, suicidal behavior, fibromyalgia, sexual activity, sarcopenia, frailty, cachexia and obesity that are not always evaluated by rheumatologists. This review shows that the evaluation and timely detection of these aspects in patients with RA could interfere with the prognosis and improve their quality of life.</p>","PeriodicalId":45545,"journal":{"name":"Open Access Rheumatology-Research and Reviews","volume":"13 ","pages":"45-55"},"PeriodicalIF":2.1,"publicationDate":"2021-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e5/52/oarrr-13-45.PMC8007602.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25538069","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":"Pain: A Review of Interleukin-6 and Its Roles in the Pain of Rheumatoid Arthritis.","authors":"Anthony Sebba","doi":"10.2147/OARRR.S291388","DOIUrl":"https://doi.org/10.2147/OARRR.S291388","url":null,"abstract":"<p><p>Pain is a major and common symptom reported as a top priority in patients with rheumatoid arthritis (RA). Intuitively, RA-related pain is often considered to be a natural consequence of peripheral inflammation, so treatment of RA is expected to manage pain concurrently as part of inflammation control. However, pain in patients with RA can be poorly correlated with objective measures of inflammation, for example, in patients who are otherwise in remission. Joint damage appears to account for only a fraction of this residual pain. Emerging evidence suggests that alteration of peripheral and central pain processing contributes to RA-related pain; this is parallel to, but somewhat independent of, joint inflammation. Interleukin (IL)-6 is a proinflammatory cytokine that contributes to the pathogenesis of RA. It exerts systemic effects via signaling through soluble forms of the IL-6 receptor (\"trans-signaling\"). Evidence from preclinical studies demonstrates that intra-articular IL-6 can produce long-lasting peripheral sensitization to mechanical stimulation and suggests an important role for IL-6 in central pain sensitization. This may be partly explained by its ability to activate neurons through trans-signaling, affecting nociceptive plasticity and nerve fiber regrowth. Local activity at neuron endings may culminate in altered pain processing in the central nervous system because of persistent signaling from sensitized peripheral neurons. Peripheral and central sensitization can promote the development of chronic pain, which can have a significant impact on patients' health and quality of life. A proportion of pain in RA may be more appropriately managed as an entity separate from inflammation. Both the peripheral and central nervous systems should be recognized as important potential systems targeted by RA. The substantial burden of RA-related chronic pain suggests that pain should be a key focus in RA management and should be assessed and addressed early and separately from the inflammatory component.</p>","PeriodicalId":45545,"journal":{"name":"Open Access Rheumatology-Research and Reviews","volume":"13 ","pages":"31-43"},"PeriodicalIF":2.1,"publicationDate":"2021-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/88/32/oarrr-13-31.PMC7943546.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25466575","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}
Maria Maddalena Angioni, Alberto Floris, Ignazio Cangemi, Mattia Congia, Elisabetta Chessa, Sandro Orrù, Matteo Piga, Alberto Cauli
{"title":"Gene Expression Profiling of Monozygotic Twins Affected by Psoriatic Arthritis.","authors":"Maria Maddalena Angioni, Alberto Floris, Ignazio Cangemi, Mattia Congia, Elisabetta Chessa, Sandro Orrù, Matteo Piga, Alberto Cauli","doi":"10.2147/OARRR.S291391","DOIUrl":"https://doi.org/10.2147/OARRR.S291391","url":null,"abstract":"<p><strong>Introduction: </strong>Psoriatic Arthritis (PsA) is a multifactorial disease, where the relative burden of genetic, epigenetic and environmental factors in clinical course and damage accrual is not yet definitively clarified. In clinical practice, there is a real need for useful candidate biomarkers in PsA diagnosis and disease progression, by exploring its underlying transcriptomic and epigenomic mechanisms. This work aims to profile the transcriptome in monozygotic (MZ) twins with psoriatic arthritis (PsA) highly concordant for clinical presentation, but discordant for the radiographic outcomes' severity.</p><p><strong>Methods: </strong>We describe i) the clinical case of two MZ twins; ii) their comparative gene expression profiling (HTA 2.0 Affymetrix) and iii) signal pathways and pathophysiological processes in which differentially expressed genes are involved (in silico analysis by the IPA software, QIAGEN).</p><p><strong>Results: </strong>One hundred sixty-three transcripts and 36 coding genes (28 up and 8 down) were differentially expressed between twins, and in the brother with the most erosive form, the transcriptomic profiling highlights the overexpression of genes known to be involved in immunomodulatory processes and on a broad spectrum of PsA manifestations.</p><p><strong>Discussion: </strong>Twins' clinical cases are still a gold mine in medical research: twin brothers are ideal experimental models in estimating the relative importance of genetic versus nongenetic components as determinants of complex phenotypes, non-Mendelian and multifactorial diseases as PsA.</p>","PeriodicalId":45545,"journal":{"name":"Open Access Rheumatology-Research and Reviews","volume":"13 ","pages":"23-29"},"PeriodicalIF":2.1,"publicationDate":"2021-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/77/e6/oarrr-13-23.PMC7939499.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25454907","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}