Pediatric Rheumatology最新文献

{"title":"Prevalence of spine pain among Tunisian children and adolescents and related factors","authors":"Alia Fazaa, Ines Cherif, Saoussen Miladi, Hiba boussaa, Yasmine makhlouf, Kaouther ben abdelghani, Ahmed laatar","doi":"10.1186/s12969-024-01007-w","DOIUrl":"https://doi.org/10.1186/s12969-024-01007-w","url":null,"abstract":"The prevalence of back and neck pain is common in children and adolescents, and in some series the numbers are alarming. Various risk factors have been identified, although some are controversial. To determine the prevalence of neck and back pain in children and adolescents and to investigate the potential association with various risk factors identified in the literature. We established a questionnaire targeting parents of children and adolescents aged between 6 and 18 years old in Tunisia. The recruitment of participants was done online using the Google Forms application. The questionnaire was divided into 2 parts: Part one collected the sociodemographics characteristics of the participants : age, gender, body mass index (BMI), exposure to passive smoking, the practice of a physical activity, puberty status and age at puberty if applicable, type and weight of the schoolbag, mean daily time spent on electronic devices, type of school the child attends (private/public), mode of transport from home to school, parental history of neck and/or back pain (mid or low back pain (LBP)), posture of the sitting position of the child, and finally whether the child reports neck/ back pain. The second part was aimed at parents whose child reported neck and/or back pain. We asked about the weekly frequency of neck/back pain, school absenteeism due to neck/back pain, whether it prevented the child from practicing physical activity and, finally, whether the child had ever seen a doctor/chiropractor/physiotherapist for their neck/back pain. Eighty-eight children (45 females, 43 males) were enrolled. Mean age was 11.9 ± 3.8 years [6–18]. Mean BMI was 18.8 ± 4.2 [15.8–35.5]. Thirty-four (38.6%) were pubescent. Twenty-five (28.4%) children were exposed to passive smoking. Parental history of spine pain was found in 58% of cases. A poor sitting position was noted in n = 49 (55.7%). Mean daily screen time was 88.3 ± 75.56 min [0-360]. Prevalence of spine pain was 44% (n = 39) distributed as follows: neck pain (n = 21, 23.8%), mid back pain (n = 15, 17%), LBP (n = 26, 29.5%), neck, mid back and low back pain (n = 4, 4.5%) Professional help seeking for spine pain in children was reported by 15 participants (25.3%). Among them, 20.3% visited a physician and 5% consulted a chiropractor or physiotherapist. A significant correlation was found between spine pain and age (p = 0.006) and BMI (p = 0.006). A significant association was found between LBP and exposure to passive smoking, puberty status, type of school bag and poor posture. A positive parental history of spine pain was significantly associated with the presence of spine pain in their children with p = 0.053 (neck pain), p = 0.013 (back pain) and p < 0.00 (LBP) respectively. A significant association was found between the presence of spine pain and school absenteeism, participation in sports, consultation with a doctor or physiotherapist/chiropractor (p < 0.0001 respectively). The prevalence of spinal pain was frequ","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"23 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142194671","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":"Proceedings of the 31st European Paediatric Rheumatology Congress: part 1","authors":"","doi":"10.1186/s12969-024-01004-z","DOIUrl":"https://doi.org/10.1186/s12969-024-01004-z","url":null,"abstract":"<h3>Autoinflammatory diseases</h3><h4>OR01 Assessment of ADA2 activity levels: report from the Italian study group on DADA2</h4><h5>Alessia Cafaro<sup>1</sup>, Roberta Caorsi<sup>2</sup>, Enrico Drago<sup>3</sup>, Alice Grossi<sup>4</sup>, Sebastiano Barco<sup>1</sup>, Chiara Conti<sup>3</sup>, Flippo Maestrini<sup>5</sup>, Maurizio Miano<sup>6</sup>, Francesca Fioredda<sup>6</sup>, Maria Carla Giarrattana<sup>6</sup>, Federica Brazaghi<sup>7</sup>, Michela Lupia<sup>6</sup>, Stefano Volpi<sup>2, 3</sup>, Riccardo Papa<sup>2</sup>, Francesca Schena<sup>2</sup>, Alessandra Mortellaro<sup>7</sup>, Isabella Ceccherini<sup>4</sup>, Alessandro Aiuti<sup>7</sup>, Carlo Dufour<sup>6</sup>, Giuliana Cangemi<sup>1</sup>, Marco Gattorno<sup>2</sup> and Italian study group on DADA2</h5><h6>\u0000<sup>1</sup>Central Laboratory of Analysis; <sup>2</sup>Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini; <sup>3</sup>DINOGMI, University of Genova; <sup>4</sup>Genetics of Rare Diseases, IRCCS Istituto Giannina Gaslini; <sup>5</sup>University of Genova; <sup>6</sup>Hematology, IRCCS Istituto Giannina Gaslini, Genova; <sup>7</sup>IRCCS Ospedale San Raffaele, Milano, Italy</h6><h5>\u0000<b>Correspondence:</b> Roberta Caorsi</h5><p><i>Pediatric Rheumatology 2024</i>, <b>22(2):</b>PReS24-ABS-1499</p><br/><p><b>Introduction:</b> Adenosine Deaminase 2 deficiency (DADA2) is a rare monogenic autoinflammatory disease resulting from loss-of-function mutations in ADA2. Functional assays are crucial for early diagnosis. In 2021, we introduced a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method to assess ADA2 activity from dried plasma spot (DPS) [1].</p><p><b>Objectives:</b> To define cut-offs of ADA2 activity in the normal population and to assess the test’s utility in a large multicentre real-life cohort of patients with suspected DADA2.</p><p><b>Methods:</b> At first, ADA2 activity was tested in 17 patients with genetically confirmed DADA2, 23 clinically healthy and genetically confirmed carriers, and 132 healthy donors. The test was then performed in 19 new diagnoses of DADA2 later confirmed genetically, 4 carriers subsequently confirmed genetically, 195 patients with other related conditions. Receiver Operating Curves (ROC) analysis evaluated the diagnostic performance of ADA2 activity in DPS. Spearman correlation coefficients were employed to investigate the relations between ADA2 activity in DPS and age. Significance was determined at a threshold of P<0.05 for all analyses, with two-tailed tests utilized.</p><p><b>Results:</b> ADA2 activity in DPS effectively discriminated patients with DADA2 from carriers (AUC=0.946, P<0.001) and carriers from patients with suspected but non-DADA2 conditions (AUC=0.890, P<0.001) with high sensitivity and specificity. A significant inverse correlation existed between DADA2 activity in DPS and age (P<0.0001). The ADA2 activity cut-off values in DPS were identified as follows: ≤ 0.09 mU/mL for p","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"29 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142194690","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":"The assessment of bone health in children with juvenile idiopathic arthritis; comparison of different imaging-based methods.","authors":"Thomas Augdal, Oskar Angenete, Pia Zadig, Anette Lundestad, Ellen Nordal, Xieqi Shi, Karen Rosendahl","doi":"10.1186/s12969-024-01018-7","DOIUrl":"10.1186/s12969-024-01018-7","url":null,"abstract":"<p><strong>Background: </strong>Osteoporosis is increasingly being recognized in children, mostly secondary to systemic underlying conditions or medication. However, no imaging modality currently provides a full evaluation of bone health in children. We compared DXA, a radiographic bone health index (BHI (BoneXpert) and cone-beam CT for the assessment of low bone mass in children with juvenile idiopathic arthritis (JIA).</p><p><strong>Methods: </strong>Data used in the present study was drawn from a large multicentre study including 228 children aged 4-16 years, examined between 2015 and 2020. All had a radiograph of the left hand, a DXA scan and a cone-beam CT of the temporomandibular joints within four weeks of each other. For the present study, we included 120 subjects, selected based on DXA BMD and BoneXpert BHI to secure values across the whole range to be tested.</p><p><strong>Results: </strong>One hundred and twenty children (60.0% females) were included, mean age 11.6 years (SD 3.1 years). There was a strong correlation between the absolute values of BHI and BMD for both total body less head (TBLH) (r = 0.75, p < 0.001) and lumbar spine (L1-L4) (r = 0.77, p < 0.001). The correlation between BHI standard deviation score (SDS) and BMD TBLH Z-scores was weak (r = 0.34) but significant (0 = 0.001), varying from weak (r = 0.31) to moderate (r = 0.42) between the three study sites. Categorizing BHI SDS and DXA BMD Z-scores on a 0-5 scale yielded a weak agreement between the two for both TBLH and LS, with w-kappa of 0.2, increasing to 0.3 when using quadratic weights. The agreement was notably higher for one of the three study sites as compared to the two others, particularly for spine assessment, yielding a moderate kappa value of 0.4 - 0.5. For cone-beam CT, based on a 1-3 scale, 59 out of 94 left TMJ's were scored as 1 and 31 as score 2 by the first observer vs. 87 and 7 by the second observer yielding a poor agreement (kappa 0.1).</p><p><strong>Conclusions: </strong>Categorizing DXA LS and automated radiographic Z-scores on a 0-5 scale gave a weak to moderate agreement between the two methods, indicating that a hand radiograph might provide an adjuvant tool to DXA when assessing bone health children with JIA, given thorough calibration is performed.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"80"},"PeriodicalIF":2.8,"publicationDate":"2024-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11363637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114835","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":"Genetic association of antinuclear antibodies with HLA in JIA patients: a Swedish cohort study.","authors":"Raya Saleh, Erik Sundberg, Mia Olsson, Katarina Tengvall, Lars Alfredsson, Ingrid Kockum, Leonid Padyukov, Helena Erlandsson Harris","doi":"10.1186/s12969-024-01017-8","DOIUrl":"10.1186/s12969-024-01017-8","url":null,"abstract":"<p><strong>Background: </strong>Juvenile Idiopathic Arthritis (JIA) is a complex autoimmune disease and the most common chronic rheumatological disease affecting children under the age of 16. The etiology of JIA remains poorly understood, but evidence suggests a significant genetic predisposition.</p><p><strong>Methods: </strong>We analyzed a Swedish cohort of 329 JIA patients and 728 healthy adult controls using the Illumina OmniExpress array for genotyping. HLA alleles were imputed from GWAS data using the SNP2HLA algorithm.</p><p><strong>Results: </strong>Case-control analysis yielded 12 SNPs with genome-wide significant association to JIA, all located on chromosome 6 within the MHC class II gene region. Notably, the top SNP (rs28421666) was located adjacent to HLA-DQA1 and HLA-DRB1. HLA-DRB1*08:01, HLA-DQA1*04:01, and HLA-DQB1*04:02 were the haplotypes most strongly associated with an increased risk of JIA in the overall cohort. When analyzing disease specific subtypes, these alleles were associated with oligoarthritis and RF-negative polyarthritis. Within the complex linkage disequilibrium of the HLA-DRB1-DQA1-DQB1 haplotype, our analysis suggests that HLA-DRB1*08 might be the primary allele linked to JIA susceptibility. The HLA-DRB1*11 allele group was also independently associated with JIA and specifically enriched in the oligoarthritis patient group. Additionally, our study revealed a significant correlation between antinuclear antibody (ANA) positivity and specific HLA alleles. The ANA-positive JIA group showed stronger associations with the HLA-DRB1-DQA1-DQB1 haplotype, HLA-DRB1*11, and HLA-DPB1*02, suggesting a potential connection between genetic factors and ANA production in JIA. Furthermore, logistic regression analysis reaffirmed the effects of HLA alleles, female sex, and lower age at onset on ANA positivity.</p><p><strong>Conclusions: </strong>This study identified distinct genetic associations between HLA alleles and JIA subtypes, particularly in ANA-positive patients. These findings contribute to a better understanding of the genetic basis of JIA and provide insights into the genetic control of autoantibody production in ANA-positive JIA patients. This may inform future classification and personalized treatment approaches for JIA, ultimately improving patient outcomes and management of this disease.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"79"},"PeriodicalIF":2.8,"publicationDate":"2024-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11348572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074595","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":"Reliability of a generative artificial intelligence tool for pediatric familial Mediterranean fever: insights from a multicentre expert survey.","authors":"Saverio La Bella, Marina Attanasi, Annamaria Porreca, Armando Di Ludovico, Maria Cristina Maggio, Romina Gallizzi, Francesco La Torre, Donato Rigante, Francesca Soscia, Francesca Ardenti Morini, Antonella Insalaco, Marco Francesco Natale, Francesco Chiarelli, Gabriele Simonini, Fabrizio De Benedetti, Marco Gattorno, Luciana Breda","doi":"10.1186/s12969-024-01011-0","DOIUrl":"10.1186/s12969-024-01011-0","url":null,"abstract":"<p><strong>Background: </strong>Artificial intelligence (AI) has become a popular tool for clinical and research use in the medical field. The aim of this study was to evaluate the accuracy and reliability of a generative AI tool on pediatric familial Mediterranean fever (FMF).</p><p><strong>Methods: </strong>Fifteen questions repeated thrice on pediatric FMF were prompted to the popular generative AI tool Microsoft Copilot with Chat-GPT 4.0. Nine pediatric rheumatology experts rated response accuracy with a blinded mechanism using a Likert-like scale with values from 1 to 5.</p><p><strong>Results: </strong>Median values for overall responses at the initial assessment ranged from 2.00 to 5.00. During the second assessment, median values spanned from 2.00 to 4.00, while for the third assessment, they ranged from 3.00 to 4.00. Intra-rater variability showed poor to moderate agreement (intraclass correlation coefficient range: -0.151 to 0.534). A diminishing level of agreement among experts over time was documented, as highlighted by Krippendorff's alpha coefficient values, ranging from 0.136 (at the first response) to 0.132 (at the second response) to 0.089 (at the third response). Lastly, experts displayed varying levels of trust in AI pre- and post-survey.</p><p><strong>Conclusions: </strong>AI has promising implications in pediatric rheumatology, including early diagnosis and management optimization, but challenges persist due to uncertain information reliability and the lack of expert validation. Our survey revealed considerable inaccuracies and incompleteness in AI-generated responses regarding FMF, with poor intra- and extra-rater reliability. Human validation remains crucial in managing AI-generated medical information.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"78"},"PeriodicalIF":2.8,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11342667/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142047495","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":"Endpoints and outcomes for localized scleroderma/morphea: a scoping literature review.","authors":"Alexy Hernandez, Leslie Zapata Leiva, Maria Mutka, Kathryn S Torok, Leila Ledbetter, Christina K Zigler","doi":"10.1186/s12969-024-01014-x","DOIUrl":"10.1186/s12969-024-01014-x","url":null,"abstract":"<p><strong>Background: </strong>Current treatment for localized scleroderma (LS) has been shown to halt disease activity, but little is still known about patient experiences with these treatments, nor is there consensus about optimal measurement strategies for future clinical trials.</p><p><strong>Objective: </strong>Conduct a scoping review of the literature for the types of outcomes and measures (i.e. clinician-, patient-, and caregiver-reported) utilized in published treatment studies of LS.</p><p><strong>Methods: </strong>Online databases were searched for articles related to the evaluation of treatment efficacy in LS with a special focus on pediatrics.</p><p><strong>Results: </strong>Of the 168 studies, the most common outcomes used were cutaneous disease activity and damage measured via clinician-reported assessments. The most frequently cited measure was the Localized Scleroderma Cutaneous Assessment Tool (LoSCAT). Few patient-reported outcome measures (PROMs) were used.</p><p><strong>Limitations: </strong>Some studies only vaguely reported the measures utilized, and the review yielded a low number of clinical trials.</p><p><strong>Conclusion: </strong>In addition to evaluating disease activity with clinician-reported measures, the field could obtain critical knowledge on the patient experience by including high-quality PROMs of symptoms and functioning. More clinical trials using a variety of outcomes and measures are necessary to determine the most suitable course of treatment for LS patients.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"77"},"PeriodicalIF":2.8,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11337887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142019515","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 novel scoring system based on sIL-2R for predicting IVIG resistance in Chinese children with KD.","authors":"Yuan-Yuan Zeng, Su-Yue Zhu, Kang-Kang Xu, Lian-Fu Ji, Yu-Qi Wang, Yi Chen, Feng Chen, Shi-Wei Yang","doi":"10.1186/s12969-024-01015-w","DOIUrl":"10.1186/s12969-024-01015-w","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to develop a novel scoring system utilizing circulating interleukin (IL) levels to predict resistance to intravenous immunoglobulin (IVIG) in Chinese patients with Kawasaki disease (KD). We further compared this scoring system against six previously established scoring methods to evaluate its predictive performance.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on KD patients who were treated at the cardiovascular medical ward of our institution from January 2020 to December 2022. Six scoring systems (Egami, Formosa, Harada, Kobayashi, Lan and Yang) were analyzed, and a new scoring system was developed based on our data.</p><p><strong>Results: </strong>In our study, 521 KD patients were recruited, 42 of whom (8.06%) were identified as resistant to IVIG. Our study indicated that IVIG-resistant KD patients were at an increased risk for the development of coronary arterial lesions (CALs) (P = 0.001). The evaluation of IVIG resistance using various scoring systems revealed differing levels of sensitivity and specificity, as follows: Egami (38.10% and 88.52%), Formosa (95.24% and 41.13%), Harada (78.57% and 43.22%), Kobayashi (66.67% and 74.95%), Lan (66.67% and 73.49%), and Yang (69.05% and 77.24%). Our novel scoring system utilizing sIL-2R demonstrated the highest sensitivity and specificity of 69.29% and 83.91%, respectively, and calibration curves indicated a favorable predictive accuracy of the model.</p><p><strong>Conclusion: </strong>Our newly developed scoring system utilizing sIL-2R demonstrated superior predictive performance in identifying IVIG resistance among Chinese patients with KD.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"76"},"PeriodicalIF":2.8,"publicationDate":"2024-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142001330","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":"Handwriting speed in juvenile idiopathic arthritis using the detailed assessment of speed of handwriting.","authors":"C A Marchak, S James, I Davidson, J Brown, K Houghton","doi":"10.1186/s12969-024-01013-y","DOIUrl":"10.1186/s12969-024-01013-y","url":null,"abstract":"<p><strong>Background: </strong>Handwriting is a commonly reported functional limitation for children with juvenile idiopathic arthritis (JIA). The aim of this study was to evaluate handwriting in children with JIA.</p><p><strong>Findings: </strong>Twelve children (mean age 13.0 years, SD = 1.9; range 9.1 to 15.6 years) with JIA completed the Detailed Assessment of Speed of Handwriting (DASH). The presence of hand and wrist arthritis, grip strength, disability, pain, and quality of life (QOL) was also assessed. The mean DASH score was 34.5th percentile (SD = 22.5). Eight (75%) scored below the 50th centile. DASH scores were negatively associated with grip strength (r = -0.31).</p><p><strong>Conclusions: </strong>Handwriting difficulties are common in children with JIA. Handwriting assessment may be helpful to direct treatments, and advocate for support and accommodations in school.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"75"},"PeriodicalIF":2.8,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11325831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989576","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":"Uncovering the hidden socioeconomic impact of juvenile idiopathic arthritis and paving the way for other rare childhood diseases: an international, cross-disciplinary, patient-centered approach (PAVE Consortium).","authors":"Deborah A Marshall, Brittany Gerber, Gillian R Currie, Jordi Antón, Lien De Somer, Michelle Dey, Tsipi Egert, Yona Egert, Lia Henan, Jens Klotsche, Laura Martinez Mifsut, Kirsten Minden, Christophe Normand, David Porte, Rotraud K Saurenmann, Joost F Swart, Yosef Uziel, Jennifer Wilson, Carine Wouters, Amit Ziv, Susanne M Benseler","doi":"10.1186/s12969-024-01012-z","DOIUrl":"10.1186/s12969-024-01012-z","url":null,"abstract":"<p><strong>Background: </strong>Juvenile idiopathic arthritis (JIA) refers to a heterogeneous group of rheumatic conditions in children. Novel drugs have greatly improved disease outcomes; however, outcomes are impacted by limited awareness of the importance of early diagnosis and adequate treatment, and by differences in access across health systems. As a result, patients with JIA continue to be at risk for short- and long-term morbidity, as well as impacts on virtually all aspects of life of the child and family.</p><p><strong>Main body: </strong>Literature on the socioeconomic burden of JIA is largely focused on healthcare costs, and the impact of JIA on patients, families, and communities is not well understood. High quality evidence on the impact of JIA is needed to ensure that patients are receiving necessary support, timely diagnostics, and adequate treatment, and to inform decision making and resource allocation. This commentary introduces the European Joint Programme on Rare Diseases: Producing an Arthritis Value Framework with Economic Evidence: Paving the Way for Rare Childhood Diseases (PAVE) project, which will co-develop a patient-informed value framework to measure the impact of JIA on individuals and on society. With a patient-centered approach, fundamental to PAVE is the involvement of three patient advocacy organizations from Canada, Israel, and Europe, as active research partners co-designing all project phases and ensuring robust patient and family engagement. The framework will build on the findings of projects from six countries: Canada, Germany, Switzerland, Spain, Israel, and Belgium, exploring costs, outcomes (health, well-being), and unmet needs (uveitis, mental health, equity).</p><p><strong>Conclusion: </strong>This unique international collaboration will combine evidence on costs (from family to societal), outcomes (clinical, patient and family outcomes), and unmet needs, to co-design and build a framework with patients and families to capture the full impact of JIA. The framework will support the development of high-quality evidence, encompassing economic and clinical considerations, unmet needs, and patient perspectives, to inform equitable resource allocation, health system planning, and quality of care better aligned with the needs of children with JIA, their families, and communities. Knowledge gained from this novel approach may pave the way forward to be applied more broadly to other rare childhood diseases.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"74"},"PeriodicalIF":2.8,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11312924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141908375","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":"CAR T cell therapy for refractory pediatric systemic lupus erythematosus: a new era of hope?","authors":"Ivana Stojkic, Lauren Harper, Samantha Coss, Mahmoud Kallash, Kyla Driest, Margaret Lamb, Stacy P Ardoin, Shoghik Akoghlanian","doi":"10.1186/s12969-024-00990-4","DOIUrl":"10.1186/s12969-024-00990-4","url":null,"abstract":"<p><p>Systemic lupus erythematosus (SLE) is a chronic autoimmune condition that can affect multiple organ systems and is heterogenous in its presentation and response to therapy. When diagnosed in childhood, SLE is associated with increased morbidity and mortality compared to adult SLE, often requiring substantial immunosuppression with the risk of significant side effects. There remains a significant unmet need for new therapies that can improve disease control and reduce glucocorticoid and other toxic medication exposure for patients with severe or refractory disease. The pathogenesis of SLE involves B cell dysregulation and autoantibody production, which are a hallmark of the disease. Currently approved B cell directed therapies often result in incomplete B cell depletion and may not target long-lived plasma cells responsible for SLE autoantibodies. It is hypothesized that by persistently eliminating both B cells and plasmablasts, CAR T therapy can halt autoimmunity and prevent organ damage in patient's refractory to current B cell-depleting treatments. Herein we summarize the current preclinical and clinical data utilizing CAR T cells for SLE and discuss the future of this treatment modality for lupus.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"72"},"PeriodicalIF":2.8,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11308704/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141908373","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}