Pediatric Rheumatology最新文献

{"title":"Correction: Development and validation of a pediatric internationally agreed ultrasound knee synovitis protocol (PIUS-knee) by the PReS imaging working party.","authors":"Daniel Windschall, Ralf Trauzeddel, Faekah Gohar, Hatice Adiguzel-Dundar, Sven Hardt, Manuela Krumrey-Langkammerer, Lampros Fotis, Rainer Berendes, Sebastian Schua, Maria Haller, Ferhat Demir, Betul Sözeri, Silvia Magni-Manzoni","doi":"10.1186/s12969-024-01032-9","DOIUrl":"10.1186/s12969-024-01032-9","url":null,"abstract":"","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"97"},"PeriodicalIF":2.8,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520860/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142548951","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":"Clinical characteristics and prognosis of interstitial lung disease in systemic juvenile idiopathic arthritis: a two-center retrospective observational cohort study.","authors":"Wenting Zhan, Jinxiang Yang, Lingzhi Qiu, Kangkang Yang, Xiaohua Ye, Yaoyao Shangguan, Haiguo Yu, Wenjie Zheng","doi":"10.1186/s12969-024-01028-5","DOIUrl":"10.1186/s12969-024-01028-5","url":null,"abstract":"<p><strong>Background: </strong>Interstitial lung disease (ILD) is a serious complication in systemic juvenile idiopathic arthritis (SJIA). This study aimed to identify the clinical characteristics and prognosis of SJIA-ILD.</p><p><strong>Methods: </strong>A two-center retrospective cohort study was conducted on patients newly diagnosed with SJIA in China from October 2010 to December 2021. Clinical characteristics, laboratory parameters, outcomes, and relapse rates were compared between ILD and non-ILD groups.</p><p><strong>Results: </strong>A total of 176 children with SJIA were included, including 35 in ILD group and 141 in non-ILD group. The median age at onset of SJIA was 5.8 years (range 4.4-9.5) in patients with SJIA-ILD. It exhibited higher incidences of cervical spine (28.6%) and hip involvement (40.0%) in ILD group (P = 0.031 and P = 0.029, respectively). The incidence of macrophage activation syndrome (MAS) in ILD group reached up to 40%, significantly elevated than that in non-ILD group (P = 0.047). Children with ILD demonstrated a stronger inflammatory response and were more prone to developing lymphopenia (P = 0.009), requiring more combination therapy (P = 0.006) to control disease activity. 54.3% of patients received biologic therapies, with only three patient receiving biologics (one with IL-6 blockade, two with TNF inhibitor) prior to ILD onset and none receiving IL-1 blockade. The median follow-up duration was 6.0 years (range 3.9-9.5). The proportions of patients with SJIA-ILD achieving clinical inactive disease without glucocorticoids within 6 to 12 months of the treatment were significantly lower than control group (45.7% vs. 70.2%, P = 0.006). In ILD group, only 54.3% of patients achieved complete remission, and 17.1% were in a non-remission state, among whom two deaths from respiratory failure. There was no significant difference in disease relapse rates between the two groups (P > 0.05).</p><p><strong>Conclusions: </strong>Patients with SJIA-ILD exhibited heightened inflammation, increased hip joint and cervical spine involvement, and were more susceptible to developing lymphopenia and MAS, suggesting a relatively poor prognosis. They required a prolonged time to control inflammation and more aggressive treatment strategies to achieve inactive status. The unsatisfactory rate of complete remission highlighted an urgent need for focused clinical strategies.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"96"},"PeriodicalIF":2.8,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11515563/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513112","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":"Duration of effect in treatment of methotrexate intolerance in juvenile idiopathic arthritis using Eye Movement Desensitization and Reprocessing (EMDR) can be improved by Bi-lateral Alternating Stimulation Tactile (BLAST) wristbands.","authors":"Lea Höfel, Bruno Eppler, Johannes-Peter Haas, Boris Hügle","doi":"10.1186/s12969-024-01024-9","DOIUrl":"10.1186/s12969-024-01024-9","url":null,"abstract":"<p><strong>Background: </strong>Methotrexate (MTX) intolerance in juvenile idiopathic arthritis (JIA) frequently leads to discontinuation due to anticipatory and associative gastrointestinal symptoms. Eye Movement Desensitization and Reprocessing (EMDR) has successfully been used in MTX intolerance, with lasting effects but frequently diminishing efficacy over time. BLAST (bi-lateral alternating stimulation tactile) wristbands utilize a similar process to EMDR. The aim of this study was to determine if utilization of BLAST wristbands could improve and prolong the effect of EMDR on patients with MTX intolerance.</p><p><strong>Methods: </strong>Consecutive patients admitted to the German Center for Pediatric and Adolescent Rheumatology with JIA and signs of MTX intolerance from October 2016 until March 2024 were included in this study. Treatment was performed using an adapted 8 phase EMDR protocol implementing BAST wristbands. Initial patients were treated with EMDR, subsequent patients additionally with BLAST wristbands. Health-related quality of live was determined using the PedsQL. Measurements of MISS (Methotrexate Intolerance Severity Score) and PedsQL were taken at 4 time points: directly before and after (MISS only) treatment, as well as 4 and 12 months after treatment. Changes in MISS and PedsQL were compared using descriptive statistics and repeated measures ANOVA.</p><p><strong>Results: </strong>87 patients with MTX intolerance were included, 53 in group 1 without BLAST wristbands and 34 in group 2 which were concurrently treated with BLAST wristbands. All patients reported marked improvement of MTX intolerance symptoms (mean MISS score group 1: 15.0 ± 5.5 before treatment, 1.3 ± 1.5 after treatment, group 2: 16.8 ± 5.6 and 2.5 ± 2.5, respectively). After 4 and 12 months, MISS in group 1 was 8.1 ± 7.1 and 8.7 ± 8.4, and in group 2: 7.1 ± 6.3 and 6.5 ± 5.7. A repeated measures ANOVA showed a significant difference between the MISS results over time (F(3,114) = 64.6, p < 0.001), and also demonstrated a significant difference of the PedsQL results between the two groups over time (F(2,64) = 8.9, p < 0.001).</p><p><strong>Conclusion: </strong>Treatment with Eye Movement Desensitization and Reprocessing (EMDR) could present an effective treatment of MTX intolerance, and using BLAST wristbands, further potential improvement is possible.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"95"},"PeriodicalIF":2.8,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11515434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142513113","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":"Development and validation of a pediatric internationally agreed ultrasound knee synovitis protocol (PIUS-knee) by the PReS imaging working party.","authors":"Daniel Windschall, Ralf Trauzeddel, Faekah Gohar, Hatice Adiguzel-Dundar, Sven Hardt, Manuela Krumrey-Langkammerer, Lampros Fotis, Rainer Berendes, Sebastian Schua, Maria Haller, Ferhat Demir, Betul Sözeri, Silvia Magni-Manzoni","doi":"10.1186/s12969-024-01029-4","DOIUrl":"10.1186/s12969-024-01029-4","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objectives: &lt;/strong&gt;To identify an optimal pediatric musculoskeletal ultrasound (MSUS) protocol for the detection of knee arthritis in patients with juvenile idiopathic arthritis (JIA) including a comparison with existing protocols. Secondary aims were to correlate MSUS-identified B-Mode (BM) and Power Doppler-Mode (PD) synovitis with clinical findings.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Consecutive JIA patients with confirmed knee arthritis after clinical examination underwent a thorough MSUS study protocol which included views identified and consented by the Pediatric Rheumatology european Society (PReS) Imaging Working Party for the detection of synovitis. In total eight views including measurement of the suprapatellar recess were included. Scoring of synovitis followed the pediatric OMERACT criteria (BM and PD severity grading 0 to 3). Interobserver reliability of BM and PD was tested before study begin. Previously published MSUS protocols for knee synovitis were also identified from the literature and their scan protocols compared to identify differences in sensitivity for synovitis according to the number and specific type of views included. Finally, a clinically applicable MSUS protocol for knee synovitis could be proposed.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;In 114 patients with clinically active knee inflammation, BM positivity (grading ≥ 1) was most frequently detected in the suprapatellar longitudinal and transverse scans performed in any positioning (frequency 97-99% in suprapatellar longitudinal in 30° or neutral respectively). PD positivity was however higher in these views performed in 30° flexion compared to neutral. Intrasynovial PD positivity (grading ≥ 1) was most frequently detected in the lateral parapatellar (69%, sensitivity 0.68, specificity 0.98), medial parapatellar (frequency 67%, sensitivity 0.67, specificity 1.0), the longitudinal lateral (68%, sensitivity 0.67, specificity 0.98) and suprapatellar transverse in 30° (frequency 64%, sensitivity 0.64, specificity 1.0). A combination of five views was the most sensitive for BM and PD synovitis. The suprapatellar recess size was analyzed by age and gender. For each group, the recess was wider in knees with arthritis than without (p &lt; 0.001). Interobserver reliability of BM and PD positivity showed 85% agreement, with kappa 0.74 (very good). Three published studies with knee synovitis MSUS protocols were identified, which included a range of 1-3 views. Evaluation of the sensitivity of positive PD findings of each of these protocols reached a range of 53-83%; the highest sensitivity (91%) was achieved with the 5 views as identified by this study. These five views were therefore combined to form the Pediatric Internationally agreed Ultrasound (PIUS) knee protocol.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;BM and PD positivity reliably correlated with the identification of pathological findings in knees of patients with JIA. From an internationally agreed protocol of eight image","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"94"},"PeriodicalIF":2.8,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11494799/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481084","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":"Physical (in)activity and screen-based media use of adolescents with juvenile idiopathic arthritis over time - data from a German inception cohort.","authors":"Florian Milatz, Malthe Jessen Pedersen, Jens Klotsche, Ina Liedmann, Martina Niewerth, Anton Hospach, Gerd Horneff, Ariane Klein, Frank Weller-Heinemann, Ivan Foeldvari, Tilmann Kallinich, Johannes-Peter Haas, Daniel Windschall, Frank Dressler, Dirk Foell, Jasmin B Kuemmerle-Deschner, Kirsten Minden","doi":"10.1186/s12969-024-01027-6","DOIUrl":"10.1186/s12969-024-01027-6","url":null,"abstract":"<p><strong>Background: </strong>Regular physical activity (PA) has been proven to help prevent non-communicable diseases and is beneficial for disease management in chronically ill populations. Physical inactivity and recreational screen-based media (SBM) use are related to poor health outcomes and common among youth. This study aimed to (1) investigate PA levels and recreational SBM use of adolescents with JIA over time and (2) compare these behaviours with those of their peers.</p><p><strong>Methods: </strong>Data from JIA patients and their peers enrolled in the inception cohort study ICON at 11 German centers were analyzed. Individuals aged 13 and over were followed prospectively with questionnaires concerning PA level, recreational SBM use, and health-related quality of life (HRQoL) at a two-year interval. Group by time interactions were analyzed using linear mixed models.</p><p><strong>Results: </strong>Data of 214 patients (mean age at first documentation 14.4 ± 0.9 years, female 63%) and 141 peers could be considered. At first documentation, patients were less physically active compared to their peers (p < 0.001). In contrast to their peers, patients' PA levels increased over time (OR 3.69; 95% CI: 1.01-13.50, p = 0.048). Mean screen time did not differ significantly between patients and peers (first documentation: 3.5 h vs. 3.0 h, p = 0.556; follow-up: 3.6 h vs. 3.3 h, p = 0. 969). During the observation period, male patients reported higher PA levels than female patients, but also higher screen time levels. While low socioeconomic status (SES) (OR 14.40; 95%-CI: 2.84-73.15) and higher cJADAS-10 score (OR 1.31; 95%-CI: 1.03-1.66) increased the likelihood for high SBM use (≥ 4.5 h/d), higher PedsQL psychosocial health score (OR 0.93; 95%-CI: 0.88-0.99) was associated with a decreased likelihood.</p><p><strong>Conclusions: </strong>Adolescents with JIA become more physically active over the disease course and achieve comparable levels of PA and recreational screen time to their peers. However, the vast majority appear to be insufficiently physically active. Future interventions to promote healthy lifestyles should include gender and SES as important determinants to reach most vulnerable groups.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"93"},"PeriodicalIF":2.8,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11492743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481085","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 randomized controlled educational study to evaluate an e-learning module to teach the physical examination of the temporomandibular joint in juvenile idiopathic arthritis.","authors":"Nancy Pan, Rebecca E Sadun, Melissa A Lerman, Cory M Resnick, James E Bost, Peter Stoustrup, Marinka Twilt, Tova Ronis","doi":"10.1186/s12969-024-01026-7","DOIUrl":"10.1186/s12969-024-01026-7","url":null,"abstract":"<p><strong>Background: </strong>The aim of the study was to evaluate the effectiveness of a novel e-learning module in teaching the physical exam of the temporomandibular joint (TMJ) in Juvenile idiopathic arthritis (JIA.).</p><p><strong>Methods: </strong>An e-learning module was developed to convey the TMJ physical examination maneuvers that are considered to be best practice in JIA. Pediatric rheumatology fellows were randomized to two groups. One group received an article describing the physical examination skills while the second group received both the article and module. All participants completed a written pre-test, an in-person objective structured clinical examination (OSCE), a written post-test, and a follow-up survey.</p><p><strong>Results: </strong>Twenty-two pediatric rheumatology fellows enrolled, with 11 per group. Written test: The two groups improved equally, although there was a trend toward improved defining of maximal incisal opening (MIO) in the module group. OSCE: The mean OSCE score was 11.1 (SD 3.3) in the article group and 13.5 (SD 1.9) in the module group (p = 0.06); significant differences were seen in measuring MIO (p = 0.01), calculating maximal unassisted mouth opening (MUMO; p = 0.01), and assessment of facial symmetry (p = 0.03), all favoring the module. Enjoyment scores in the module group were higher than in the article group (mean 7.7/10 vs. 5.9/10, p = 0.02). The two groups self-reported performing TMJ examinations at comparable rates three months following the intervention.</p><p><strong>Conclusions: </strong>The study demonstrated that a formalized educational program improved knowledge of the physical exam of the TMJ in JIA. Learners viewing the module were more adept at obtaining quantitative TMJ measurements.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"91"},"PeriodicalIF":2.8,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481083","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":"Screening for comorbid autoimmune disease should be considered in children with ANA positive juvenile idiopathic arthritis - results from the south-Swedish juvenile idiopathic arthritis cohort.","authors":"Alma Dahlberg, Helena Tydén, Anna Saxne Jöud, Fredrik Kahn, Elisabet Berthold","doi":"10.1186/s12969-024-01030-x","DOIUrl":"https://doi.org/10.1186/s12969-024-01030-x","url":null,"abstract":"<p><strong>Background: </strong>There is no consensus or clinical guidelines for screening routines of autoimmune disease in individuals with juvenile idiopathic arthritis (JIA), since results are conflicting whether the risk for such conditions is increased or not among individuals with JIA. The aim of this study was to investigate if the frequency of comorbid autoimmune conditions is increased after JIA diagnosis in a validated population-based JIA cohort in southern Sweden.</p><p><strong>Methods: </strong>Autoimmune comorbidities were evaluated in a pre-existing population-based JIA cohort of 302 participants, constituting of individuals diagnosed with a validated JIA diagnosis 2000-2010 in southern Sweden. The comorbidities were determined through analysis of diagnosis codes registered after the JIA diagnosis and until 2019. With the use of a reference population of 1510 age- and sex matched individuals, hazard ratios (HR) were calculated with Cox proportional models.</p><p><strong>Results: </strong>During the study period, 7.7% of the JIA cohort received an autoimmune diagnosis after their JIA diagnosis. Individuals with JIA had an increased risk of autoimmune diseases in general (HR 4.11, 95% CI 2.13-7.91) within the first 7 years of disease, as well as separately for coeliac disease (HR 5.24, 95% CI 1.76-15.65) and hypothyroidism (HR 3.74, 95% CI 1.14-12.30) compared to the reference population. Antinuclear antibody (ANA) positivity was associated with a significantly increased risk of comorbid autoimmune disease in the JIA cohort, with HR 6.21 (95% CI 1.64-23.55) for ANA positive individuals.</p><p><strong>Conclusions: </strong>Individuals with JIA have a significantly increased risk of being diagnosed with an autoimmune condition after receiving their JIA diagnosis compared to matched references. ANA positivity is associated with a further increased risk. Our results emphasize awareness in physicians of additional autoimmune disorders in individuals with JIA and advocate serological screening of autoimmune conditions during follow-up.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"92"},"PeriodicalIF":2.8,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11489994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481086","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":"Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC).","authors":"Kosar Asna Ashari, Nima Parvaneh, Kayvan Mirnia, Mehri Ayati, Maryam Saeedi, Farhad Salehzadeh, Mohammad Shahrooei, Razieh Sangsari, Pejman Rohani, Vahid Ziaee","doi":"10.1186/s12969-024-01020-z","DOIUrl":"10.1186/s12969-024-01020-z","url":null,"abstract":"<p><strong>Background: </strong>Gain of function (GOF) mutations in NOD-like receptor family CARD-containing 4 protein (NLRC4) gene induce a wide spectrum of autoinflammatory phenotypes. Currently, we categorize them into four groups: familial cold autoinflammatory syndrome (FCAS)4, autoinflammatory infantile enterocolitis (AIFEC), NLRC4-macrophage associated syndrome (MAS), and neonatal-onset multisystem inflammatory disease (NOMID). The rarity and complexity of the disease necessitate the description of new cases and a reexamination of our understanding of the condition.</p><p><strong>Case presentations: </strong>We present three patients with NLRC4-GOF mutations and AIFEC phenotypes. The first patient is an infant girl with periodic fever, seizure, high inflammatory markers, and an episode of macrophage associated syndrome (MAS). History of recurrent fever episodes since childhood was reported in mother and maternal grandmother. A heterozygous mutation was found in CARD domain of NLRC4: c.A91C: p.Asn31His. The second patient is an adolescent boy with periodic fever, diarrhea, aphthous stomatitis, seizure, and central nervous system (CNS) vasculitis. A heterozygous mutation was found in NLRC4 gene: c.1202T > C. p. Val401Ala. The third patient is a child with chronic diarrhea and elevated inflammatory markers. We found a heterozygous mutation in NLRC4 gene: c.390delG: p.S132Afs*21. All mutations have been reported for the first time as NLRC4 mutations associated with autoinflammation. We introduced novel mutations in the CARD domain and between CARD and NBD domain in the first and third cases, respectively. All three children are under remission following treatment.</p><p><strong>Conclusions: </strong>NLRC4-GOF mutations can be associated with autoinflammation with diverse symptoms. Given the rarity of the disease and the possibility of new mutations being identified, the existence of a phenotype/genotype correlation has yet to be thoroughly investigated. The variety in manifestations and severity spectrum mandates a variety of treatments. Adalimumab has shown favorable outcomes in our AIFEC cases.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"90"},"PeriodicalIF":2.8,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11487858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481097","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":"Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient.","authors":"Ayşenur Alkaya, Adalet Elçin Yıldız, Esra Bağlan, Semanur Özdel","doi":"10.1186/s12969-024-01016-9","DOIUrl":"10.1186/s12969-024-01016-9","url":null,"abstract":"<p><strong>Background: </strong>Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones' diaphysis. This condition is caused by mutations in the transforming growth factor beta-1 (TGFB-1) gene and is typically inherited in an autosomal dominant pattern. Patients with CED often present with symptoms such as chronic bone pain, muscle weakness, fatigue, and difficulty walking.</p><p><strong>Case presentation: </strong>We report a 30-month-old boy who presented with gait abnormality. Initially, toxic synovitis was considered, and non-steroidal anti-inflammatory (NSAİ) treatment was administered. The patient did not respond to NSAİ treatment. Direct radiographs showed diaphyseal thickening, especially in the long bones. Radiologically, CED was suspected, and clinical exome sequencing identified a TGFB-1: c1121C > G (Pro374Arg) heterozygous mutation, which was interpreted as a possible pathogenic variant for CED. A clinical, radiologic, and genetic diagnosis of CED was made.</p><p><strong>Conclusion: </strong>Due to its rarity and variable clinical presentation, the diagnosis of CED can be challenging and often requires a high index of suspicion. Early and accurate diagnosis is crucial for managing symptoms and improving patients' quality of life.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"89"},"PeriodicalIF":2.8,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11460205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395296","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":"Implementation study of the CARRA Uveitis Consensus Treatment Plans: feasibility for clinical practice and applicability for research.","authors":"Margaret H Chang, Fatima Barbar-Smiley, Shoghik Akoghlanian, Joanne Drew, Sheila T Angeles-Han, Megan Quinlan-Waters, John F Bohnsack, Ashley M Cooper, Barbara Edelheit, Jennifer Twachtman-Bassett, Melissa A Lerman, Kabita Nanda, C Egla Rabinovich, Mindy S Lo","doi":"10.1186/s12969-024-01022-x","DOIUrl":"10.1186/s12969-024-01022-x","url":null,"abstract":"<p><strong>Background: </strong>Chronic anterior uveitis (CAU) carries a significant risk for eye complications and vision loss. The Childhood Arthritis and Rheumatology Research Alliance (CARRA) introduced consensus treatment plans (CTPs) to standardize treatment for CAU and facilitate future comparative effectiveness studies. Two CTPs were developed to address: 1) initiation of methotrexate (MTX) in patients with CAU naïve to steroid-sparing therapy, and 2) initiation of a TNF inhibitor (TNFi) in patients with severe uveitis or uveitis refractory to MTX. We evaluated implementation of the uveitis CTPs using existing CARRA Registry infrastructure and assessed feasibility of the CTPs for comparative effectiveness research.</p><p><strong>Methods: </strong>This prospective observational cohort study was conducted at nine pilot sites between February 2020 and August 2022. Patients with JIA-associated CAU (JIA-U) were treated according to either the MTX or TNFi CTP. Uveitis activity and medication use were recorded at 0, 3, and 6 months. We assessed patient enrollment rates, CTP arm selection, uveitis control, and quality of data collection. We also evaluated CTP arm selection in a retrospective cohort of similar JIA-U patients enrolled in the CARRA Registry during the same study period.</p><p><strong>Results: </strong>Seventeen patients were included in the pilot cohort. Eight were treated with the MTX CTP (4 oral MTX, 4 subcutaneous MTX), and 9 with the TNFi CTP (9 received standard-dose adalimumab, none selected high-dose adalimumab or infliximab). Uveitis was controlled in 13 of 17 patients by 6 months. Query of the CARRA-wide Registry identified 42 patients with JIA-U who were treated according to the MTX or TNFi CTPs. Among these, 26 were treated with MTX (8 oral, 18 subcutaneous) and 16 with TNFi (12 standard dose adalimumab, 2 high dose adalimumab, and 2 infliximab).</p><p><strong>Conclusion: </strong>Both the MTX and TNFi uveitis CTPs can practically be implemented in clinical settings and are currently being utilized across Registry sites. However, in patients starting TNFi therapy, all pilot study participants and most patients across the CARRA Registry were treated with a standard dose of adalimumab. This consensus on the treatment approach underscores its broad acceptance but also limits the applicability of the uveitis TNFi CTP for comparative effectiveness research.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"88"},"PeriodicalIF":2.8,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11457454/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395295","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}