Pediatric Rheumatology最新文献

{"title":"An updated overview of Juvenile systemic sclerosis in a French cohort.","authors":"Léa Jacquel, Rouba Bechara, Joëlle Terzic, Anne-Cécile Rameau, Emmanuel Chatelus, Linda Rossi-Semerano, Isabelle Kone-Paut, Ulrich Meinzer, Irène Lemelle, Charlotte Rebelle, Diego Urbina, Pascal Pillet, Pauline Choquet, Jad El Maamari, Ariane Zaloszyc","doi":"10.1186/s12969-024-01043-6","DOIUrl":"10.1186/s12969-024-01043-6","url":null,"abstract":"<p><strong>Background: </strong>Systemic sclerosis encompasses a range of disorders characterized by vascular and connective tissue abnormalities. Although rare in pediatrics, juvenile systemic sclerosis (jSSc) is a severe and life-threatening condition that significantly impacts children's development. This study aimed to provide an overview of JSSc in France over the past decade.</p><p><strong>Methods: </strong>Patients with disease onset before the age of 16 were included following a request for observations sent via email to member practitioners of the SOFREMIP (French pediatric Rheumatology society).</p><p><strong>Results: </strong>Our study included 18 patients from 8 different French centers. While our cohort exhibited a balanced distribution between limited and diffuse subsets of the disease, we observed a higher prevalence of the diffuse subset in children above the age of 10. Skin induration was the most reported symptom, while Raynaud's phenomenon was present in 61% of the children at initial clinical evaluation. All children tested positive for antinuclear antibodies, with anti-Scl70 being the most common specificity, even among children with limited cutaneous subsets. Interestingly, we found a high sensitivity of the ACR / EULAR criteria for diagnosing jSSc in our cohort with 83% of patients meeting these criteria, except for 3 children who presented with overlap syndromes. Despite the frequent use of corticosteroids at the onset, no deaths or renal crises were reported. Three patients received treatment with biological agents, specifically Rituximab and Tocilizumab.</p><p><strong>Conclusion: </strong>JSSc is a rare but severe disease requiring rapid, specialized, and multidisciplinary care. Further studies are needed to validate proper diagnosis criteria including overlap syndromes and evaluate the use of biotherapies in children.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"13"},"PeriodicalIF":2.8,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807294/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374780","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":"Lack of HLH in FMF.","authors":"Ozge Basaran, Erdal Sag, Elif Arslanoglu Aydın, Busra Aydın, Nur Kübra Tasdemir, Elif Celikel, Yagmur Bayındır, Semanur Özdel, Yelda Bilginer, Alexei A Grom, Seza Ozen","doi":"10.1186/s12969-025-01064-9","DOIUrl":"10.1186/s12969-025-01064-9","url":null,"abstract":"<p><strong>Background: </strong>Macrophage activation syndrome (MAS) is a severe complication of systemic juvenile idiopathic arthritis (sJIA), driven by excessive activation of T cells and macrophages, resulting in a cytokine storm. IFN-γ and IL-18 play crucial roles, with monocyte and macrophage hyperresponsiveness to IFN-γ amplifying MAS-related inflammation. Familial Mediterranean Fever (FMF), an autosomal recessive disease, is characterized by recurrent fever episodes due to MEFV gene mutations. Despite intense inflammation in FMF, MAS is rare. This study aimed to compare in vitro responsiveness of peripheral blood mononuclear cells (PBMCs) to IFN-γ between sJIA/MAS and FMF patients.</p><p><strong>Methods: </strong>Five sJIA/MAS and five FMF patients were included. PBMCs were stimulated in vitro with IFN-γ for 45 min. Levels of IFN-γ-induced chemokines CXCL9, CXCL10, and IL-18 in supernatants were measured using cytometric bead arrays before and after stimulation.</p><p><strong>Results: </strong>PBMCs from MAS patients produced higher baseline CXCL9 levels compared to FMF patients in a flare, with differences increasing post-IFN-γ stimulation. IFN-γ stimulation also upregulated IL-18 production in MAS patients but not in FMF patients.</p><p><strong>Conclusion: </strong>Enhanced responsiveness to IFN-γ distinguishes sJIA/MAS from FMF patients, which may explain the lower occurrence of MAS in FMF.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"14"},"PeriodicalIF":2.8,"publicationDate":"2025-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11807302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143374713","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":"Significance of differential diagnosis for the elucidation of rare and complicated diseases.","authors":"Jiro Ichikawa, Tomonori Kawasaki, Kojiro Onohara, Masanori Wako, Satoshi Ochiai, Tetsuo Hagino","doi":"10.1186/s12969-025-01066-7","DOIUrl":"10.1186/s12969-025-01066-7","url":null,"abstract":"","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"12"},"PeriodicalIF":2.8,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11800496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257406","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":"Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS).","authors":"Sorina Boiu, Nikolaos Paschalidis, George Sentis, Theodora Manolakou, Andrianos Nezos, Manolis Gialitakis, Maria Grigoriou, Erato Atsali, Melpomeni Giorgi, Argirios Ntinopoulos, Clio Mavragani, Periklis Makrythanasis, Dimitrios T Boumpas, Aggelos Banos","doi":"10.1186/s12969-024-01050-7","DOIUrl":"10.1186/s12969-024-01050-7","url":null,"abstract":"<p><strong>Background: </strong>Type I interferonopathies including Aicardi-Goutiéres Syndrome (AGS) represent a heterogeneous group of clinical phenotypes. Herein, we present a Case with combined AGS and Cornelia de Lange Syndrome (CdLS)-a cohesinopathy-with comprehensive analysis of the immune and genomic abnormalities.</p><p><strong>Case and methods: </strong>A 20-year old man presented with chilblain lesions and resorption of distal phalanges of fingers and toes, somatic and psychomotor retardation, microcephaly, synophrys, hearing losing and other aberrancies consistent with the phenotype of CdLS. We used whole exome sequencing to genetically map the associated mutations and performed transcriptome profiling and enrichment analysis in CD14⁺ monocytes of the patient and immune phenotyping by mass cytometry (CyToF), comparing to healthy individuals and lupus patients as disease controls. DNA damage response was assayed by confocal microscopy in the peripheral blood of this patient.</p><p><strong>Results: </strong>Next generation exome sequencing confirmed a homozygous SAMHD1 gene mutation and a hemizygous non-synonymous mutation on SMC1A gene, responsible for the AGS and CdLS, respectively. Transcriptome profiling of CD14⁺ monocytes of the patient showed enrichment of type I IFN signaling and enhanced DNA damage response pathway. Broad immune phenotype of the peripheral blood of the patient revealed absence of activated T cell populations, increased frequency of NK cells and plasmablasts and enhanced granulocytic lineage. Further analysis suggested activation of the ATM branch of DNA damage response and increased apoptosis in the periphery of the patient.</p><p><strong>Conclusions: </strong>A rare case of a patient bearing two genetic lesions (responsible for AGS/CdLS syndromes) exhibits distinctive features of genomic damage and interferon responses. Immune phenotype revealed granulocytic skewing and absence of activated T cells compatible with chronic antigenic stimulation and/or homing of these cells at sites of inflammation.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"11"},"PeriodicalIF":2.8,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11770959/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054194","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":"Exploring the clinical profiles and management of juvenile dermatomyositis in Africa: a survey of African rheumatology care providers.","authors":"Jessica Perfetto, Laura B Lewandowski, Dawn M Wahezi, Vanessa Ogega, Joan Ahimbisibwe, Kate Webb, Christiaan Scott, Angela Migowa","doi":"10.1186/s12969-024-01009-8","DOIUrl":"10.1186/s12969-024-01009-8","url":null,"abstract":"<p><strong>Background: </strong>There are limited studies of juvenile dermatomyositis (JDM) in low and middle-income countries (LMIC). Many demonstrate delays to care, high prevalence of severe manifestations, and high mortality. Given the disease-associated damage with JDM, understanding JDM in Africa further is critical. Our objectives are to understand the burden of JDM in Africa and provider access to diagnostic tools and therapy through survey methodology.</p><p><strong>Methods: </strong>A survey (available in English and French) was distributed via WhatsApp to 363 total members of the African League of Associations for Rheumatology (AFLAR; n = 233) and Paediatric Society of the African League Against Rheumatism (PAFLAR; n = 130) from November 2022-January 2023. Topics included respondent specialty, number of JDM patients followed, severe manifestations, and available diagnostic tools and medications (with and without considering cost).</p><p><strong>Results: </strong>Forty-three (12%) of the 363 providers who received the survey started it. Among the 43 who started the survey, 37 (86%) provided consent and manage JDM patients; of these 37 providers, 4 (11%) partially and 16 (43%) fully completed the survey. Most were adult and/or pediatric rheumatologists (n = 19; 95%). Respondents represented all 5 African regions and described 216 children with JDM within the last 10 years. There was high prevalence of calcinosis (as high as 100%) and interstitial lung disease (ILD) (as high as 32%); mortality rates in Kenya (6/42; 14%) and Zambia (2/7; 29%) exceeded the 1-3% mortality reported in studies of high-income countries. Thirteen of 27 diagnostic tools and medications were accessible to ≤ 50% of respondents after considering cost, mostly in Northern or Southern Africa (9/13; 69%). Despite being cost-free, disease assessment tools and physical exam to assess calcinosis were not reported as universally available or accessible.</p><p><strong>Conclusions: </strong>This is the first study to explore experiences of providers caring for children with JDM in Africa. Respondents identified 216 children with JDM seen within the last 10 years, exceeding the 196 children with JDM reported within the last 25 years but likely still underestimating prevalence. Our findings align with reports of severe manifestations and poor outcomes in African children with JDM. Access to many diagnostics and medications is limited, and differences in accessibility parallel regional healthcare disparities. The potential differences in JDM severity warrant systematic study and highlight the need to include patients and providers from LMIC in collaborative research efforts.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"10"},"PeriodicalIF":2.8,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11771122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054189","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":"Joint fluid multi-omics improves diagnostic confidence during evaluation of children with presumed septic arthritis.","authors":"Yolanda Peña-López, Naureen G Tareen, Bo Zhang, Indu Raman, Carlos A Arana, Chengsong Zhu, Yang Liu, Pratibha Selvakumar, Nicolai S C van Oers, Simrat Morris, Lora V Hooper, Lawson A B Copley, Prithvi Raj","doi":"10.1186/s12969-025-01060-z","DOIUrl":"10.1186/s12969-025-01060-z","url":null,"abstract":"<p><strong>Background: </strong>An accurate diagnosis of septic versus reactive or autoimmune arthritis remains clinically challenging. A multi-omics strategy comprising metagenomic and proteomic technologies were undertaken for children diagnosed with presumed septic arthritis to advance clinical diagnoses and care for affected individuals.</p><p><strong>Methods: </strong>Twelve children with suspected septic arthritis were prospectively enrolled to compare standard of care tests with a rapid multi-omics approach. The multi-omics combined bacterial 16S rRNA metagenomics, single cell transcriptomics, and proteomics on knee joint fluid specimens. The diagnostic value of the multi-omics was ascertained relative to standard of care culture and PCR-negative results.</p><p><strong>Results: </strong>Ten children with suspected primary septic arthritis and two with acute hematogenous osteomyelitis (AHO) diagnoses were assessed. Joint fluid bacterial cultures were positive for 6/12 (50%) patients, consistent with elevated inflammatory markers (IL-4, IL-6, IL-17A, TNF-a, etc.). Metagenomic bacterial sequencing results were 100% concordant with the culture results. Six patients were culture- and PCR-negative. Multiomics analyses of the 6 culture negative patients established that 2/6 culture-negative children had inflammatory arthritis with potential Juvenile idiopathic arthritis (JIA) and 1 had post-Streptococcal Reactive Arthritis. The children without any bacteremia had autoantibodies (IgGs) in the joint-fluid targeting several nuclear antigens (i.e., dsDNA, histones, Jo-1, scl-70, Ro/SS-A, SmDs, CENP-A along with non-nuclear antigens i.e. Albumin, Collagens, Myosin, Laminin, etc. Single cell transcriptomics confirmed an abundance of CD4⁺ follicular helper T (Tfh), CD8 + T cells and B cells in the autoantibody positive subjects. The combination of 16S DNA sequencing (p = 0.006), cytokine assays (p = 0.009) and autoantibody profiling (p = 0.02) were significantly distinct between those children with and without infections. This improved the diagnostic confidence for 9 of 12 (75%) children, key for treatment decisions.</p><p><strong>Conclusions: </strong>The multiomics approach rapidly identified children with bacterial or autoimmune inflammatory conditions, improving diagnostic and treatment strategies for those with presumptive septic arthritis.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"9"},"PeriodicalIF":2.8,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759420/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029888","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":"Monocyte STAT1 phosphorylation and treatment response of JAK inhibitors in chronic nonbacterial osteomyelitis.","authors":"Motoshi Sonoda, Keishiro Kinoshita, Nobutaka Harada, Sungyeon Park, Shunichi Adachi, Yutaro Yada, Katsuhide Eguchi, Toshifumi Fujiwara, Makiko Kido-Nakahara, Noriko Kinjo, Masataka Ishimura, Shouichi Ohga","doi":"10.1186/s12969-025-01059-6","DOIUrl":"10.1186/s12969-025-01059-6","url":null,"abstract":"<p><strong>Background: </strong>Chronic nonbacterial osteomyelitis (CNO) is a rare autoinflammatory disease of unknown cause, predominantly affecting teens and young adults. The early diagnosis and management are challenging due to the lack of reliable diagnostic markers and the occasional intractable cases despite conventional anti-inflammatory treatments. Janus kinase (JAK) inhibitors have recently shown potential utility; however, reports on their use for pediatric patients with CNO remain limited, and no established biomarkers exist to monitor disease activity. We aimed to investigate the pathophysiology of CNO and explore the rapid testing methods for accurate diagnosis and also assessing the disease activity.</p><p><strong>Methods: </strong>We assessed intracellular phosphorylation of signal transducer and activator of transcription 1 (pSTAT1) in peripheral blood monocytes or T cells following interferon-gamma (IFNγ) stimulation, using flow cytometry in 9 patients under 15 years old with CNO. The pSTAT1 expression levels were compared with those in patients with STAT1-gain of function (STAT1-GOF) mutations (n = 5), other autoinflammatory diseases (n = 7), and healthy controls. Clinical and immunological data were monitored in 4 patients with intractable CNO treated with adjunctive JAK inhibitors, focusing on scoring scales, imaging data, lymphocyte subsets, cytokine profiles, and pSTAT1 levels.</p><p><strong>Results: </strong>Monocyte pSTAT1 expression after IFNγ stimulation was elevated at diagnosis or during active CNO, similar to levels observed in STAT1-GOF cases. The pSTAT1 levels in CNO patients were significantly higher than those in other autoinflammatory diseases (p = 0.024) or controls (p < 0.001). Notably, pSTAT1 levels in CNO monocytes fluctuated with disease activity, decreasing in 5 patients during clinical remission following conventional therapies (p = 0.016). In four intractable cases, pSTAT1 levels remained high despite conventional treatments but significantly decreased after initiating JAK inhibitors (p = 0.036). This reduction correlated with improved patient pain visual analog scale (p = 0.008), CNO clinical disease activity score (p = 0.029), and better bone and joint imaging, though cytokine levels remained unchanged.</p><p><strong>Conclusions: </strong>The monocyte pSTAT1 levels after IFNγ stimulation reflect the activity of CNO, indicating the diagnostic utility as well as the monitoring effect of disease control. Adjunctive JAK inhibitors successfully controlled inflammation in treatment-resistant cases. Rapid pSTAT1 testing may help reduce osteo-articular complications, although the long-term adverse effects and resistance should be further investigated.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"6"},"PeriodicalIF":2.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029881","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":"A qualitative study exploring experiences of treatment in paediatric rheumatology - children's, young people's, parents' and carers' perspectives.","authors":"Kassie Gracella Putri, Sunil Sampath, Charlotte Lucy Richardson, Alice McCloskey, Adam Pattison Rathbone","doi":"10.1186/s12969-025-01063-w","DOIUrl":"10.1186/s12969-025-01063-w","url":null,"abstract":"<p><strong>Background: </strong>There is limited literature in paediatric rheumatology describing holistic lived experiences of medical treatment from perspectives of children and young people (CYP) and their parents or carers (PC). This is important as it could have implications for adherence. This study aimed to explore treatment experiences of CYP and PC in a paediatric rheumatology service.</p><p><strong>Methods: </strong>Participants were recruited at a day-case unit for intravenous infusions at a tertiary paediatric rheumatology centre. Joint qualitative semi-structured interviews with CYP and PC were used to collect data. Data were transcribed, quality checked and thematically analysed using NVivo 12.4 to identify findings.</p><p><strong>Results: </strong>Thirty-two participants (15 CYP between the ages of 6 and 16 years, 17 PC) took part in interviews lasting 41 min and 43 s, on average. Participants described experiences using infliximab, followed by tocilizumab and abatacept. Participants experienced a wave, oscillating between positive and negative trajectories. Experiences of medical treatments were described as temporary, eventually changing and leading to treatment changes or cessation. Behaviours were influenced through somatic factors (pain, function), social factors (advice from health professionals, encouragement from friends, family and teachers, practicality of using treatment in relation to school, work and finance) and cognitive factors (fear of needles, fear of specific medications, beliefs about necessity).</p><p><strong>Conclusions: </strong>Collectively, findings demonstrate experiences of medical treatment reflect the nature of many paediatric rheumatology conditions, oscillating between periods of positive and negative trajectories. Somatic, social and cognitive experiences can be positive, when treatment is considered 'successful'. Negative somatic, social or cognitive experiences led to behaviours such as treatment non-adherence. A limitation of the study is interviews were conducted jointly with CYP and PC, which may have influenced what participants were willing to say in front of one another however this does mean findings relate to both CYP and PC and so could be suitable targets for interventions to improve adherence.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"7"},"PeriodicalIF":2.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029796","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":"Frequency of remission achievement in the pre-treat-to-target decade in juvenile idiopathic arthritis.","authors":"Ana Isabel Rebollo-Giménez, Angela Pistorio, Silvia Maria Orsi, Francesca Ridella, Elena Aldera, Luca Carlini, Valentina Natoli, Marco Burrone, Silvia Rosina, Roberta Naddei, Alessandro Consolaro, Esperanza Naredo, Angelo Ravelli","doi":"10.1186/s12969-025-01057-8","DOIUrl":"10.1186/s12969-025-01057-8","url":null,"abstract":"<p><strong>Background: </strong>Over the past two decades there has been a remarkable advance in the management of juvenile idiopathic arthritis (JIA), which has led to considerable improvement in prognosis. In 2018, the introduction of the treat-to-target (T2T) strategy in JIA has been advocated to further ameliorate disease outcome. To provide a benchmark for comparing future outcomes in the \"T2T era\", this study investigates the percentage of JIA patients who achieved clinical inactive disease (CID) in the decade that preceded the publication of the T2T recommendations in JIA.</p><p><strong>Methods: </strong>The clinical charts of all JIA patients followed at the study center between 2007 and 2017 who were first seen within 6 months after disease onset and had a minimum of 6-month follow-up information available were reviewed retrospectively. The attainment of CID, defined by 2004 Wallace criteria, was assessed cross-sectionally at 6, 12, 24, and 60 months after first observation.</p><p><strong>Results: </strong>A total of 394 patients were included. Patients were classified into four \"functional phenotypes\": systemic arthritis (7.1%), oligoarthritis (48.2%), polyarthritis (40.4%), and other arthritis (4.3%). The overall frequency of CID was 25.1% at 6 months, 34.5% at 12 months, 44.6% at 24 months, and 49.1% at 60 months. The systemic and oligoarticular subgroups had the highest rates of CID at 6 months (32.1% and 29.5%, respectively) and at 12 months (40% and 41.1%, respectively). At the 60-month evaluation, which was available for 226 out of 394 patients (57.4%), the frequency of CID among patients still followed at study center was 42.9%, 51.7%, 46.7%, and 45.5% for the systemic, oligoarticular, polyarticular, and other arthritis phenotypes, respectively.</p><p><strong>Conclusion: </strong>A sizeable proportion of patients treated in the decade preceding the beginning of the \"T2T era\" and on continued follow-up did not achieve or maintain the state of CID over the long term. Future studies will determine whether the application of the T2T strategy increases the ability to achieve sustained disease quiescence in patients who respond suboptimally to the conventional therapeutic regimens.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"8"},"PeriodicalIF":2.8,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755886/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143029804","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":"Experiences of sexual and reproductive health screening and counseling in the clinical setting among adolescents and young adults with rheumatic disease.","authors":"Brittany Huynh, Mary A Ott, Stacey E Tarvin","doi":"10.1186/s12969-025-01056-9","DOIUrl":"10.1186/s12969-025-01056-9","url":null,"abstract":"<p><strong>Background: </strong>Our objective was to describe differences among adolescents and young adults (AYAs) with rheumatic disease using teratogens compared to non-users in receipt of sexual and reproductive health (SRH) counseling, teratogenicity knowledge, perceived importance of SRH topics, and preferences around counseling.</p><p><strong>Methods: </strong>AYAs ages 14-23 years and assigned female at birth were recruited from pediatric rheumatology clinics at a Midwest tertiary care program. Participants completed a one-time online survey assessing SRH.</p><p><strong>Results: </strong>One-hundred eight participants completed the survey, representing a range of rheumatic diseases. 24% reported ever having sex. 36% used a teratogen. Rates of screening and counseling regarding SRH topics were low. Notably, pregnancy prevention and emergency contraception (EC) counseling by rheumatologists were uncommon and not associated with teratogen use or sexual activity. Among AYAs on teratogens, only half reported screening for sexual activity or counseling on teratogenicity or pregnancy prevention. Gaps in pregnancy prevention and EC counseling remained even when accounting for counseling by other providers. Knowledge of medication teratogenicity was also low. AYAs reported SRH topics of high importance, and many reported recent concerns. They preferred to receive information from their rheumatologist, and most agreed it is important to talk to their rheumatologist regarding these topics.</p><p><strong>Conclusions: </strong>AYAs with rheumatic disease report low levels of SRH screening and counseling by their rheumatologist yet report these topics are important and want to discuss them. Gaps in teratogenicity knowledge were identified. This study identifies a need for improved communication with AYAs regarding their SRH.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":"5"},"PeriodicalIF":2.8,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11749332/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143016469","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}