Pediatric Rheumatology最新文献

{"title":"Screening for juvenile idiopathic arthritis associated uveitis with laser flare photometry in the pediatric rheumatology office: a prospective observational study.","authors":"Kaleo Ede, Michael Shishov, Elisa Wershba, Nikita Goswami, Sabrina Gorry, Malin Joseph, Lucia Mirea, James O'Neil","doi":"10.1186/s12969-024-00961-9","DOIUrl":"10.1186/s12969-024-00961-9","url":null,"abstract":"<p><strong>Background: </strong>Juvenile Idiopathic Arthritis (JIA) Associated Uveitis (JIA-U) remains one of the most serious complications of JIA in children. Historically, pediatric JIA is diagnosed by an Optometrist or Ophthalmologist; however, barriers to scheduling increase wait times that may delay diagnosis and treatment. The purpose of this study was to evaluate laser flare photometry (LFP) use to diagnose JIA-U in the Pediatric Rheumatology clinic for patients with JIA.</p><p><strong>Methods: </strong>This prospective, observational study assessed pediatric patients diagnosed with JIA without a previous history of uveitis between January 2020 and September 2022. All patients underwent at least one evaluation of both eyes using a Kowa FM-600 laser flare photometer during a routine Rheumatology appointment, as well as a standard slit lamp examination (SLE) by optometry or ophthalmology during routine clinical care. Data collected at patient visits included demographics, JIA characteristics, treatment, LFP readings, and anterior chamber (AC) cell grade score utilizing the SUN grading system. Data were summarized using descriptive analyses and the uveitis false positive rate was calculated.</p><p><strong>Results: </strong>The study cohort included 58 pediatric patients diagnosed with JIA. The mean age was 8.4 years (1.2-16.3 years) at diagnosis and 11.9 (4.8-16.5 years) at enrollment. The mean duration of disease at time of enrollment was 42 months (range; 0-157 months). Participants were predominantly female (n = 43, 74.1%) and white/Caucasian race (n = 37, 63.8%). The most common JIA subtypes included persistent oligoarticular JIA (n = 19, 32.8%), and RF negative polyarticular JIA (n = 12, 20.7%). There were 12 ANA positive patients (20.7%). At enrollment, 16 patients (27.6%) were not on medications, with 20 (34.5%) on methotrexate, 20 (34.5%) on adalimumab, 6 (10.3%) on tocilizumab, and 5 (8.6%) on etanercept. During the study period, no eye exams detected active uveitis based on SLE with a SUN grade over 0. However, of the 135 LFP readings, 131 (97.0%) were normal, yielding a false positive rate of 3% (95% CI: 0.8%, 7.4%).</p><p><strong>Conclusions: </strong>LFP is a non-invasive tool that can be utilized in the pediatric rheumatology clinic to evaluate for JIA-U. There is a low false positive rate of LFP when compared with standard slit lamp exam.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"22"},"PeriodicalIF":2.8,"publicationDate":"2024-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10811873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139566386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study.","authors":"Alessandra Tesser, Erica Valencic, Valentina Boz, Gianluca Tornese, Serena Pastore, Manuela Zanatta, Alberto Tommasini","doi":"10.1186/s12969-023-00950-4","DOIUrl":"10.1186/s12969-023-00950-4","url":null,"abstract":"<p><strong>Background: </strong>H Syndrome is a rare genetic condition caused by biallelic pathogenic variants in the SLC29A3 gene. It is characterized by a wide range of clinical manifestations, many of which are related to the immune-rheumatological field. These include scleroderma-like skin changes, deforming arthritis, and enlarged lymph nodes. The condition also features cardiac and endocrine defects, as well as hearing loss, for which the immune pathogenesis appears less clear. Immunomodulatory medications have been shown to improve many symptoms in recent experiences.</p><p><strong>Case presentation: </strong>A 21-year-old girl was referred to our institute after being diagnosed with H syndrome. Her medical history was characterized by the development of finger and toe deformities, which developed since the first years of life and progressively worsened with clinodactyly. At 6 years of age, she was diagnosed with diabetes mellitus without typical autoantibodies and with bilateral sensorineural hearing loss. She also complained of frequent episodes of lymphadenopathy, sometimes with colliquation and growth retardation due to pancreatic insufficiency. It wasn't until the genetic diagnosis of H syndrome that the continual increase in acute phase reactants was noticed, suggesting that an immunological pathogenesis may be the source of her problems. During her visit to our institute, she reported serious pain in both feet and hands and difficulty walking due to knee arthritis and muscle contractures. Conventional therapy with steroid injection in affected joints and methotrexate only led to partial improvement. After a thorough assessment of her inflammatory profile showing a high interferon score, the girl received treatment with baricitinib. Furthermore, based on recent data showing that SLC29A3 deficiency results in interferon production because of Toll-like Receptor 7 activation in lysosomes, hydroxychloroquine was also added. The combination of the two drugs resulted for the first time in a rapid and persistent normalization of inflammatory markers, paralleled by a dramatic improvement in symptoms.</p><p><strong>Conclusions: </strong>We describe the results of inhibiting IFN inflammation in H syndrome and discuss how JAK inhibitors and antimalarials might represent a mechanistically based treatment for this orphan drug disorder.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"21"},"PeriodicalIF":2.8,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10807099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139543343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypertension as a prominent manifestation secondary to renal artery lesions in pediatric Behcet’s disease","authors":"Xinning Wang, Zhixuan Zhou, Jianguo Li, Gaixiu Su, Xiaohui Li","doi":"10.1186/s12969-023-00932-6","DOIUrl":"https://doi.org/10.1186/s12969-023-00932-6","url":null,"abstract":"Hypertension caused by vascular Behcet’s disease (BD) is an important prognostic factor of paediatric BD. However, much less is known about its clinical features. The objective of this study was to investigate the clinical characteristics of paediatric vascular BD complicated by hypertension. A retrospective study was carried out in paediatric BD patients complicated by hypertension treated in the Children’s Hospital Capital Institute of Paediatrics from Jan 2009 to Dec 2022. Of 65 BD patients, 6 (9.2%) were complicated by hypertension, 5 patients were female, and the median ages of onset and diagnosis were 9.8 years and 11.3 years, respectively. Three patients were found to have cardiac involvement and hypertensive retinopathy secondary to hypertension. Five of the 6 patients with hypertension had right renal artery involvement, and all of them were treated with glucocorticoids and immunosuppressants. Four patients were treated with biological agents. One patient with severe renal artery stenosis underwent unsuccessful vascular interventional therapy. After 3–6 years of follow-up, five patients were found to have renal atrophy, and one patient was at stable condition. Hypertension in paediatric BD is mainly caused by renal artery involvement. Early recognition and treatment of vascular involvement in BD is important to prevent poor prognosis.","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"32 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139496110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lymphocyte apoptosis and its association with the inflammatory markers and disease severity in juvenile-onset systemic lupus erythematosus patients","authors":"Eman Eissa, Rania Kandil, Dalia Dorgham, Raghda Ghorab, Naglaa Kholoussi","doi":"10.1186/s12969-024-00953-9","DOIUrl":"https://doi.org/10.1186/s12969-024-00953-9","url":null,"abstract":"The defective clearance of apoptotic bodies in juvenile-onset systemic lupus erythematosus (jSLE) potentially leads to the persistence of autoreactive lymphocytes and the perpetuation of the autoimmune response. These factors contribute to the disturbance in lymphocyte apoptosis and show potential as key determinants in the clinical course and severity of jSLE. This study evaluates the role of peripheral blood (PB) lymphocyte apoptosis in prognosis of jSLE and as a predictor for disease activity. The study involved 100 jSLE patients and 50 healthy controls. Flow cytometry was used to analyze percentages of lymphocyte apoptosis in PB of all study participants. Plasma levels of pro-inflammatory cytokines were determined using ELISA. Our results showed that percentages of lymphocyte apoptosis in PB of jSLE patients are significantly higher than those of healthy controls. These percentages are significantly positively associated with disease activity of patients (SLEDAI-2 K). Furthermore, plasma cytokine levels (IL-17, IFN-γ and TNF-α) are significantly elevated in jSLE patients compared to their levels in healthy controls. Also, there are weak significant positive correlations between percentages of PB lymphocyte apoptosis and each of IL-17 and IFN-γ plasma levels in jSLE patients. Moreover, PB lymphocyte apoptosis percentages among jSLE patients are higher in the presence of some clinical and laboratory features than those in their absence. Peripheral apoptotic lymphocytes could contribute to the prognosis of jSLE and could be used as a predictor for disease activity in jSLE patients.","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"575 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139496052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Establishment and analysis of a novel diagnostic model for systemic juvenile idiopathic arthritis based on machine learning","authors":"Pan Ding, Yi Du, Xinyue Jiang, Huajian Chen, Li Huang","doi":"10.1186/s12969-023-00949-x","DOIUrl":"https://doi.org/10.1186/s12969-023-00949-x","url":null,"abstract":"Systemic juvenile idiopathic arthritis (SJIA) is a form of childhood arthritis with clinical features such as fever, lymphadenopathy, arthritis, rash, and serositis. It seriously affects the growth and development of children and has a high rate of disability and mortality. SJIA may result from genetic, infectious, or autoimmune factors since the precise source of the disease is unknown. Our study aims to develop a genetic-based diagnostic model to explore the identification of SJIA at the genetic level. The gene expression dataset of peripheral blood mononuclear cell (PBMC) samples from SJIA was collected from the Gene Expression Omnibus (GEO) database. Then, three GEO datasets (GSE11907-GPL96, GSE8650-GPL96 and GSE13501) were merged and used as a training dataset, which included 125 SJIA samples and 92 health samples. GSE7753 was used as a validation dataset. The limma method was used to screen differentially expressed genes (DEGs). Feature selection was performed using Lasso, random forest (RF)-recursive feature elimination (RFE) and RF classifier. We finally identified 4 key genes (ALDH1A1, CEACAM1, YBX3 and SLC6A8) that were essential to distinguish SJIA from healthy samples. And we combined the 4 key genes and performed a grid search as well as 10-fold cross-validation with 5 repetitions to finally identify the RF model with optimal mtry. The mean area under the curve (AUC) value for 5-fold cross-validation was greater than 0.95. The model’s performance was then assessed once more using the validation dataset, and an AUC value of 0.990 was obtained. All of the above AUC values demonstrated the strong robustness of the SJIA diagnostic model. We successfully developed a new SJIA diagnostic model that can be used for a novel aid in the identification of SJIA. In addition, the identification of 4 key genes that may serve as potential biomarkers for SJIA provides new insights to further understand the mechanisms of SJIA.","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"31 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139496077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psoriatic arthritis and COVID-19: a new challenge for rheumatologists and dermatologists.","authors":"Zohreh Jadali","doi":"10.1186/s12969-023-00929-1","DOIUrl":"10.1186/s12969-023-00929-1","url":null,"abstract":"<p><p>COVID-19 has changed the global health system and has great impact on different types of medical specialties including, dermatology and rheumatology. This point is important because although these two specialties are distinct subfields of medicine, there is some overlap between them. The overlap can be described by a number of rheumatic diseases that have cutaneous manifestations and vice versa. A good example of this is psoriatic arthritis because, in up to 42% of people, cutaneous lesions and arthritis coexist. Interestingly, emerging reports have described the possible occurrence of psoriasis and psoriatic arthritis in COVID-19 patients. Although the exact mechanism is unclear, some common pathophysiological mechanisms may contribute to disease pathogenesis. Therefore, elucidation of shared pathological pathways that connect these diseases will be valuable for better diagnosis and the complete treatment of COVID-19 patients with cutaneous and rheumatologic diseases.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"16"},"PeriodicalIF":2.5,"publicationDate":"2024-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10797950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139492800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review.","authors":"Patricia Morán-Álvarez, Alessandra Gianviti, Francesca Diomedi-Camassei, Monia Ginevrino, Fabrizio de Benedetti, Claudia Bracaglia","doi":"10.1186/s12969-023-00939-z","DOIUrl":"10.1186/s12969-023-00939-z","url":null,"abstract":"<p><strong>Background: </strong>Childhood systemic lupus erythematosus (cSLE) has been considered as a polygenic autoimmune disease; however, a monogenic lupus-like phenotype is emerging with the recent recognition of several related novel high-penetrance genetic variants. RASopathies, a group of disorders caused by mutations in the RAS/MAPK pathway, have been recently described as a cause of monogenic lupus.</p><p><strong>Case presentation: </strong>We present a 13-year-old boy with Noonan-like syndrome with loose anagen hair who developed a monogenic lupus. The renal biopsy confirmed a class III lupus nephritis and identified the presence of zebra bodies.</p><p><strong>Conclusions: </strong>RASopathies represent a cause of monogenic lupus. We report a new case of monogenic lupus in a child with Noonan-like syndrome with loose anagen hair. Lupus nephritis which has never been described in this context, may be part of the presentation. The presence of zebra bodies in SLE or RASopathies in unclear, but no other known conditions (Fabry disease or drugs) were identified as the cause of zebra bodies in our patient.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"17"},"PeriodicalIF":2.5,"publicationDate":"2024-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10797908/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139492793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shaping the future of pediatric rheumatology","authors":"Tadej Avčin, Angelo Ravelli","doi":"10.1186/s12969-024-00957-5","DOIUrl":"https://doi.org/10.1186/s12969-024-00957-5","url":null,"abstract":"&lt;p&gt;Dear colleagues,&lt;/p&gt;&lt;p&gt; It is with great pleasure and honor that we address you as the newly appointed Editors-in-Chief of &lt;i&gt;Pediatric Rheumatology&lt;/i&gt;, an open access journal published by BioMed Central, a member of the Springer Nature publishing group. The journal has been serving the worldwide pediatric rheumatology community for more than two decades and was originally launched as the &lt;i&gt;Pediatric Rheumatology Online Journal&lt;/i&gt; in 2003 as the first solely pediatric rheumatology journal. In 2007, the journal was renamed &lt;i&gt;Pediatric Rheumatology&lt;/i&gt; [1] and received its first impact factor in 2012 [2]. Throughout all these years the journal remained freely accessible and served the pediatric rheumatology community to share and exchange advances in clinical care, research and education.&lt;/p&gt;&lt;p&gt;The great progress of the journal since its foundation is a legacy of the remarkable past Editors-in-Chief, Prof. Charles H. Spencer and Prof. Alberto Martini, who established and developed the journal, which is now read by pediatricians, pediatric rheumatologists, adult rheumatologists, healthcare professionals, and the general public. We would like to express our heartfelt thanks to the past Editors-in-Chief for their vision, dedication, and excellence in the continuous improvement of the journal. We would also like to thank all the authors, readers, reviewers, former members of the editorial board and other supporters who have contributed to the significant success and growth of the journal in the past years.&lt;/p&gt;&lt;p&gt;&lt;i&gt;Pediatric Rheumatology&lt;/i&gt; has been an official journal of the Paediatric Rheumatology European Association (PReS) since 2013 [3]. With the support of PReS, the journal had a direct link with practicing pediatric rheumatologists and researchers, which proved to be a fruitful partnership for both parties. PReS provided also financial support to the journal to maintain a competitive price for authors with limited funds to publish their work. In the last decade, PReS has evolved into a truly global society, which was also reflected by the journal. PReS has established close links with other societies and networks, such as PRINTO, CARRA, ERN-RITA, EULAR, and others, to form a worldwide network of professionals working in the field of pediatric rheumatology. We believe that ongoing close partnership between &lt;i&gt;Pediatric Rheumatology&lt;/i&gt; and PReS is instrumental to cover cutting–edge advances in research and clinical care of children with rheumatic diseases, and providing a platform for international cooperation.&lt;/p&gt;&lt;p&gt;We accepted the roles of the new Editors-in-chief with a vision to foster further growth of the journal and to provide a tool for the exchange of information within a broad, vibrant, and inclusive pediatric rheumatology community. Our goal is to provide global solutions for the management of pediatric rheumatic diseases, promote innovative research, advance education, and raise awareness of pediatric rheumatic diseases. To en","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"234 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139476260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Transition readiness among finnish adolescents with juvenile idiopathic arthritis","authors":"Katriina Mikola, Katariina Rebane, Hannu Kautiainen, Kristiina Aalto","doi":"10.1186/s12969-024-00956-6","DOIUrl":"https://doi.org/10.1186/s12969-024-00956-6","url":null,"abstract":"&lt;p&gt;Following publication of the original article [1], we have been notified that the first and last author names have been swapped.&lt;/p&gt;&lt;p&gt;Originally published names: Mikola Katriina, Rebane Katariina, Kautiainen Hannu and Aalto. Kristiina.&lt;/p&gt;&lt;p&gt;Correct name order: Katriina Mikola, Katariina Rebane, Hannu Kautiainen and Kristiina Aalto.&lt;/p&gt;&lt;p&gt;The original article has been corrected.&lt;/p&gt;&lt;ol data-track-component=\"outbound reference\"&gt;&lt;li data-counter=\"1.\"&gt;&lt;p&gt;Kohli, et al. Pediatr Rheumatol. 2023;21:149. https://doi.org/10.1186/s12969-023-00938-0.&lt;/p&gt;&lt;p&gt;Article Google Scholar &lt;/p&gt;&lt;/li&gt;&lt;/ol&gt;&lt;p&gt;Download references&lt;svg aria-hidden=\"true\" focusable=\"false\" height=\"16\" role=\"img\" width=\"16\"&gt;&lt;use xlink:href=\"#icon-eds-i-download-medium\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"&gt;&lt;/use&gt;&lt;/svg&gt;&lt;/p&gt;&lt;h3&gt;Authors and Affiliations&lt;/h3&gt;&lt;ol&gt;&lt;li&gt;&lt;p&gt;New Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Stenbackinkatu 9, 00290, Helsinki, Finland&lt;/p&gt;&lt;p&gt;Katriina Mikola, Katariina Rebane &amp; Kristiina Aalto&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;p&gt;Primary Health Care Unit Kuopio, Kuopio University Hospital, PohjoisSavo, Finland&lt;/p&gt;&lt;p&gt;Hannu Kautiainen&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;p&gt;Folkhälsan Research Center, Helsinki, Finland&lt;/p&gt;&lt;p&gt;Hannu Kautiainen&lt;/p&gt;&lt;/li&gt;&lt;/ol&gt;&lt;span&gt;Authors&lt;/span&gt;&lt;ol&gt;&lt;li&gt;&lt;span&gt;Katriina Mikola&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Katariina Rebane&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Hannu Kautiainen&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Kristiina Aalto&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;/ol&gt;&lt;h3&gt;Corresponding author&lt;/h3&gt;&lt;p&gt;Correspondence to Katriina Mikola.&lt;/p&gt;&lt;h3&gt;Publisher’s Note&lt;/h3&gt;&lt;p&gt;Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.&lt;/p&gt;&lt;p&gt;The online version of the original article can be found at https://doi.org/10.1186/s12969-023-00938-0.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Open Access&lt;/b&gt; This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly fr","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"26 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139469674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Longitudinal follow-up of mixed connective tissue disease and overlapping autoimmune diseases of childhood onset in the Afro-descendant population of the French West Indies.","authors":"Arthur Felix, Lindsay Osei, Frederique Delion, Benoit Suzon, Aurore Abel, Moustapha Drame, Yves Hatchuel, Christophe Deligny, Fabienne Louis-Sidney","doi":"10.1186/s12969-023-00951-3","DOIUrl":"10.1186/s12969-023-00951-3","url":null,"abstract":"<p><strong>Introduction: </strong>Overlap autoimmune syndromes (OAS) and mixed connective tissue disease (MCTD) are rare in children. We performed a retrospective, longitudinal and descriptive study of Afro-Caribbean patients from the French West Indies followed for MCTD and OAS to describe their characteristics and outcomes during childhood.</p><p><strong>Methods: </strong>Retrospective study from January 2000 to 2023. Listings of patients were obtained from multiple sources: computerized hospital archives and national hospital-based surveillance system, registry of pediatricians and adult specialists in internal medicine and the national registry for rare diseases. MCTD was defined according to Kasukawa's criteria. OAS was defined as overlapping features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and dermatomyositis/autoimmune myositis (DM/AM).</p><p><strong>Results: </strong>Sixteen patients were included over a 23-year period (10 MCTD and 6 OAS). The incidence was 0.23 per 100,000 children-years. The mean age at diagnosis was 11.9 years old (2.4-17) with median follow up of 7.9 years (2.1-19.6). SLE phenotype was present in the highest, followed by SSc and DM/AM. Patients had an average of three flares during childhood (1-7). A quarter (25%) had symptomatic pulmonary arterial hypertension (PAH). Ninety-four percent received steroids during follow-up and 88% required a corticosteroid-sparing therapy. Three patients (19%) developed SLE after more than 10y of follow-up. There were no death and no chronic organ failure.</p><p><strong>Conclusion: </strong>This is the largest pediatric cohort of MCTD and OAS in Afro-descendant patients treated in a country with a high standard of care. The clinical evolution did not differ between MCTD and OAS. The main complication was PAH, more frequent in our cohort.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"13"},"PeriodicalIF":2.5,"publicationDate":"2024-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10785358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139426049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}