Pediatric Rheumatology最新文献

{"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}

{"title":"Effectiveness and safety of canakinumab in cryopyrin-associated periodic syndrome: a retrospective study in China.","authors":"Xiaona Zhu, Jiaqi Fan, Yanyan Huang, Yongbin Xu, Zhi Yang, Ruohang Weng, Ying Luo, Jun Yang, Tingyan He","doi":"10.1186/s12969-024-01023-w","DOIUrl":"https://doi.org/10.1186/s12969-024-01023-w","url":null,"abstract":"<p><strong>Objective: </strong>Cryopyrin-associated periodic syndrome (CAPS) is characterized by excessive IL-1β release resulting in systemic and organ inflammation. As an anti-IL-1 agent, canakinumab has been approved with all CAPS phenotypes in USA and European countries. However, the use of canakinumab in CAPS in Chinese patients was rarely reported. In this study, we aimed to assess the effectiveness and safety of canakinumab in Chinese patients with CAPS.</p><p><strong>Methods: </strong>Patients with CAPS treated with canakinumab were included. Clinical data were collected retrospectively from medical records. Treatment response was evaluated by CAPS disease activity score, C-reactive protein (CRP), and/or serum amyloid A (SAA) levels. Data was analyzed at canakinumab initiation, at months 1, 3, 6, 9, and 12, or the last follow-up.</p><p><strong>Results: </strong>A total of 10 CAPS patients were included. 40% of patients were males, the median age at disease onset was 2.5 (2.5, 6) days and the median duration of follow-up while on canakinumab was 22.5 (8.5, 27.5) months. 80% (8/10) of CAPS patients presented with moderate-severe disease activity before the canakinumab treatment. 30% (3/10) of patients required canakinumab dose increase to control disease activity. After treatments, 60% (6/10) of CAPS patients achieved complete remission without relapse and the rest showed minimal disease activity. Clinical symptoms such as fever and rash were improved significantly in most patients (80%). Although abnormal imaging in brain MRI remained in over half of those patients, neurological manifestations were all relieved. 60% (6/10) of patients received prednisone before starting canakinumab therapy and five of them discontinued prednisone later. The most common adverse event was infection (40%). No serious adverse events occurred during the treatment of canakinumab.</p><p><strong>Conclusions: </strong>Canakinumab may be effective and tolerable for Chinese CAPS patients, helping to reduce the dosage of corticosteroids. However, additional trials on large samples are required to further evaluate its efficacy and safety in China.</p>","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"22 1","pages":"87"},"PeriodicalIF":2.8,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11428461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142332526","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":"14-month-old female with anti-MDA5 juvenile dermatomyositis complicated by liver disease: a case report","authors":"Mitchell Kinkor, Sameena Hameed, Alexander Kats, Voytek Slowik, Emily Fox, Maria Ibarra","doi":"10.1186/s12969-024-01021-y","DOIUrl":"https://doi.org/10.1186/s12969-024-01021-y","url":null,"abstract":"Juvenile Dermatomyositis (JDM) is a rare disorder with subtypes associated with different myositis-specific antibodies (MSAs) including anti-MDA5. Hepatic involvement in JDM is rare and has not previously been documented in anti-MDA5 JDM. There is a lack of formal research on treatment protocols for anti-MDA5 JDM, though tofacitinib is a highly regarded emerging therapy. A previously healthy 14-month-old Hispanic female presented to a pediatric rheumatology clinic with eight months of worsening rash, weakness, periorbital edema, intermittent fevers, and weight loss. Her physical exam was notable for fever, thinning of hair, heliotrope rash, periorbital edema, violaceous macules on her bilateral elbows, forearms, arms, and knees, arthritis, Gottron’s sign, and hepatomegaly. The patient was admitted, and symptoms progressed to include hypoxemia. Subsequent workup was notable for ground glass opacities of bilateral lung fields on chest CT, myositis visualized on MRI and confirmed with muscle biopsy, and liver biopsy showing nonspecific signs of liver injury. After a thorough infectious disease workup to rule out concomitant infection, the patient was started on high-dose steroids and induction with cyclophosphamide. She responded well with disease remission maintained with tofacitinib in the outpatient setting. Our patient is notable due to her young age at presentation, histopathologically confirmed liver injury, and response to treatment. The case adds to the growing body of literature supporting tofacitinib for anti-MDA5 JDM in the pediatric population. Future research can better standardize effective treatment protocols and define the mechanism of liver involvement. For patients with nonspecific liver injury, muscular, and cutaneous disease, anti-MDA5 JDM should be considered in the differential diagnosis with treatment options including tofacitinib for confirmed cases.","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"1 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142249401","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 2024 Childhood Arthritis and Rheumatology Research Alliance (CARRA) Annual Scientific Meeting","authors":"","doi":"10.1186/s12969-024-00998-w","DOIUrl":"https://doi.org/10.1186/s12969-024-00998-w","url":null,"abstract":"&lt;h3&gt;Katherine Nowicki&lt;sup&gt;1&lt;/sup&gt;, Nathan Rogers&lt;sup&gt;2&lt;/sup&gt;, Carson Keeter&lt;sup&gt;3&lt;/sup&gt;, Nathan Donaldson&lt;sup&gt;1&lt;/sup&gt;, Jennifer Soep&lt;sup&gt;1&lt;/sup&gt;, Yongdong Zhao&lt;sup&gt;4&lt;/sup&gt;\u0000&lt;/h3&gt;&lt;h4&gt;\u0000&lt;sup&gt;1&lt;/sup&gt;University of Colorado, Children’s Hospital Colorado; &lt;sup&gt;2&lt;/sup&gt;Children’s Hospital Colorado; &lt;sup&gt;3&lt;/sup&gt;University of Colorado; &lt;sup&gt;4&lt;/sup&gt;Seattle Children’s Hospital&lt;/h4&gt;&lt;h5&gt;\u0000&lt;b&gt;Correspondence:&lt;/b&gt; Katherine Nowicki&lt;/h5&gt;&lt;p&gt;\u0000&lt;i&gt;Pediatric Rheumatology 2024&lt;/i&gt;, &lt;b&gt;22(S1):&lt;/b&gt;A1&lt;/p&gt;&lt;br/&gt;&lt;p&gt;Background: Chronic Nonbacterial Osteomyelitis (CNO) is characterized by sterile inflammatory bone lesions and most commonly affects skeletally immature children. Non-steroidal anti-inflammatory drugs (NSAIDs) are the first-line treatment, but in some cases second-line treatments including methotrexate, TNF-alpha inhibitors, and bisphosphonates are required. It remains unclear which patients are most likely to respond to NSAIDs or require a second-line treatment based on their initial presentation. In this study, we sought to describe our CNO cohort and to determine which clinical variables are associated with response to NSAID monotherapy versus requiring a second-line medication.&lt;/p&gt;&lt;p&gt;Methods : A retrospective chart review of patients with a diagnosis of CNO made before 18 years of age who attended the CNO clinic at Children’s Hospital Colorado between 1/1/05 and 1/31/22 was performed. The standardized treatment approach involved 6 months of NSAIDs, followed by a trial of discontinuation in responders. Patients who failed the discontinuation trial were given a longer NSAID course. Patients with spinal involvement, patients with comorbidities such as psoriasis or inflammatory bowel disease, and NSAID-non-responders were treated with second-line therapies. Clinical characteristics were recorded, including which of 6 regions (head and face, neck and back, upper torso, upper extremities, lower torso, lower extremities) were affected by CNO. Patients were divided into three groups: NSAID-short (NSAID monotherapy for 3 to &lt; 7 months), NSAID-long (NSAID monotherapy for ≥7 months), or second-line treatment. A multiple linear regression model was constructed to determine the relationship between total NSAID monotherapy days and relevant predictors. Multiple logistic regression was used to determine the odds of needing second-line treatment when considering those same predictors. Both models contained combinations of variables which minimized the Akaike Information Criteria (AIC), resulting in models with low multicollinearity and high predictive power.&lt;/p&gt;&lt;p&gt;Results : 164 patients fulfilled inclusion criteria and 70 patients were excluded. Cohort characteristics overall and for each of the 3 treatment groups are presented in Table 1. Comparison between the NSAID-short and NSAID-long groups showed that patients with unifocal disease at diagnosis required 47% less days of NSAID treatment than those with multifocal disease at diagnosis (Table 2). Comparison of the NSAID mon","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"12 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142194674","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":"Protracted febrile myalgia syndrome in children with familial Mediterranean fever – systematic review and a case report","authors":"Toni Hospach, Friederike Blankenburg, Anita Heinkele, Thekla von Kalle, Yosef Uziel, Tillmann Kallinich, Kristina Rücklová","doi":"10.1186/s12969-024-01019-6","DOIUrl":"https://doi.org/10.1186/s12969-024-01019-6","url":null,"abstract":"Protracted febrile myalgia syndrome (PFMS) is a rare manifestation of familial Mediterranean fever (FMF), characterized by myalgia, fever and elevated inflammatory markers lasting several weeks. As the hallmark of FMF are short episodes of disease symptoms, the long duration of PFMS may lead to a delayed diagnosis and treatment. 1. To perform a review of literature and rheumatology textbooks focused on clinical features and treatment of PFMS in children. 2. To present our own case. All articles in Pub Med generated using the keywords “protracted febrile myalgia” and information on PFMS in seven rheumatology textbooks were collected. The systematic review was supplemented with our own case presentation. In total, 18 articles with 78 pediatric patients (including our own) were retrieved. More than half of the patients presented with PFMS as the first manifestation of FMF. All complained of myalgia, 65% of abdominal pain and 26% had a rash. Corticosteroids (CS) were effective in 77%. In all CS-refractory cases, anakinra was shown efficient. MRI was used in 5 patients and showed myositis in all of them. The scrutiny of seven rheumatology textbooks showed that PFMS presenting with myalgia was mentioned in six. Possible accompanying symptoms were described only once, the long duration of symptoms twice, the efficacy of corticosteroids three times and anakinra only once. The presented 6 year old patient manifested with fever, myalgia, abdominal pain and petechial rash lasting 6 weeks. She had undergone multiple diagnostic procedures before her parents mentioned a positive family history for FMF. The subsequent genetic testing confirmed a homozygosity for M694V pathogenic variant in the MEFV gene. The long duration of PFMS may be misleading to clinicians especially if PFMS occurs at manifestation of FMF. The fact that more than half of the reported patients experienced PFMS as the presenting symptom of FMF is one of the key findings of our study. Our case presentation demonstrates the importance of genetic testing early in suspected autoinflammatory diseases. Furthermore, MRI may be an important diagnostic tool showing myositis in PFMS.","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"25 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142194654","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 2","authors":"","doi":"10.1186/s12969-024-01005-y","DOIUrl":"https://doi.org/10.1186/s12969-024-01005-y","url":null,"abstract":"&lt;h3&gt;JIA (oligo, poly, psoriatic)&lt;/h3&gt;&lt;h4&gt;P177 Investigation of functionality, participation, and biopsychosocial status of individuals with JIA according to disease activity&lt;/h4&gt;&lt;h5&gt;Orkun Tüfekçi&lt;sup&gt;1&lt;/sup&gt;, Sinan Buran&lt;sup&gt;2&lt;/sup&gt;, Nur B. Karaca&lt;sup&gt;1&lt;/sup&gt;, Emil Aliyev&lt;sup&gt;3&lt;/sup&gt;, Yağmur Bayındır&lt;sup&gt;3&lt;/sup&gt;, Yelda Bilginer&lt;sup&gt;3&lt;/sup&gt;, Edibe Ünal&lt;sup&gt;2&lt;/sup&gt;, Seza Özen&lt;sup&gt;3&lt;/sup&gt;\u0000&lt;/h5&gt;&lt;h6&gt;\u0000&lt;sup&gt;1&lt;/sup&gt;Department of Basic Physiotherapy and Rehabilitation, Hacettepe University Institute of Health Sciences; &lt;sup&gt;2&lt;/sup&gt;Department of Heart and Respiratory Physiotherapy and Rehabilitation, Hacettepe University Faculty of Physical Therapy and Rehabilitation; &lt;sup&gt;3&lt;/sup&gt;Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Türkiye&lt;/h6&gt;&lt;h5&gt;\u0000&lt;b&gt;Correspondence:&lt;/b&gt; Orkun Tüfekçi&lt;/h5&gt;&lt;p&gt;&lt;i&gt;Pediatric Rheumatology 2024&lt;/i&gt;, &lt;b&gt;22(2)&lt;/b&gt;: PReS24-ABS-1330&lt;/p&gt;&lt;br/&gt;&lt;p&gt;&lt;b&gt;Introduction:&lt;/b&gt; The relationship between disease activity status in JIA and the functionality, participation, and psychosocial status of these individuals has been emphasized. However, upon reviewing the literature, the need for evaluation of disease activity status in JIA in these aspects is reported (1, 2).&lt;/p&gt;&lt;p&gt;&lt;b&gt;Objectives:&lt;/b&gt; This study aimed to investigate the functionality, participation, and biopsychosocial status of individuals with JIA according to disease activity.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Methods:&lt;/b&gt; Our study included fifty individuals (31 girls, 19 boys) diagnosed with JIA, of whom 35 had oligoarticular and 15 had polyarticular JIA, and who were followed up with routine controls. Demographic information of the participants was documented, and disease activity status was assessed using the Juvenile Arthritis Disease Activity Score in 71 joints (JADAS-71). Functionality was measured using the Childhood Health Assessment Questionnaire (CHAQ), participation was evaluated using the Child and Adolescent Scale of Participation (CASP), and biopsychosocial status was examined using the Juvenile Arthritis Biopsychosocial Questionnaire (JAB-Q). Disease activity was categorized based on the JADAS-71 score: ≤1 indicated inactive disease, while &gt;10.5 indicated high disease activity (3). Group characteristics were compared using the Mann-Whitney U test.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Results:&lt;/b&gt; Demographic characteristics of inactive and high disease activity JIA patients were similar (p&gt;0.05). CHAQ pain, general well-being, and total score, CASP home participation and total score, JAB-Q-child disease activity, joint, functionality, fatigue, and total scores were significantly better in favor of the inactive group; ESR value and number of affected active joints were higher in individuals with high disease activity (p&lt;0.05).&lt;/p&gt;&lt;p&gt;&lt;b&gt;Conclusion:&lt;/b&gt; This study showed that individuals with JIA exhibiting high disease activity were more affected in functionality, participation, and biopsychosocial status compared to those with inactive disease. The findings of this s","PeriodicalId":54630,"journal":{"name":"Pediatric Rheumatology","volume":"162 1","pages":""},"PeriodicalIF":2.5,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142194691","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":"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 &lt; 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 &lt; 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":"&lt;h3&gt;Autoinflammatory diseases&lt;/h3&gt;&lt;h4&gt;OR01 Assessment of ADA2 activity levels: report from the Italian study group on DADA2&lt;/h4&gt;&lt;h5&gt;Alessia Cafaro&lt;sup&gt;1&lt;/sup&gt;, Roberta Caorsi&lt;sup&gt;2&lt;/sup&gt;, Enrico Drago&lt;sup&gt;3&lt;/sup&gt;, Alice Grossi&lt;sup&gt;4&lt;/sup&gt;, Sebastiano Barco&lt;sup&gt;1&lt;/sup&gt;, Chiara Conti&lt;sup&gt;3&lt;/sup&gt;, Flippo Maestrini&lt;sup&gt;5&lt;/sup&gt;, Maurizio Miano&lt;sup&gt;6&lt;/sup&gt;, Francesca Fioredda&lt;sup&gt;6&lt;/sup&gt;, Maria Carla Giarrattana&lt;sup&gt;6&lt;/sup&gt;, Federica Brazaghi&lt;sup&gt;7&lt;/sup&gt;, Michela Lupia&lt;sup&gt;6&lt;/sup&gt;, Stefano Volpi&lt;sup&gt;2, 3&lt;/sup&gt;, Riccardo Papa&lt;sup&gt;2&lt;/sup&gt;, Francesca Schena&lt;sup&gt;2&lt;/sup&gt;, Alessandra Mortellaro&lt;sup&gt;7&lt;/sup&gt;, Isabella Ceccherini&lt;sup&gt;4&lt;/sup&gt;, Alessandro Aiuti&lt;sup&gt;7&lt;/sup&gt;, Carlo Dufour&lt;sup&gt;6&lt;/sup&gt;, Giuliana Cangemi&lt;sup&gt;1&lt;/sup&gt;, Marco Gattorno&lt;sup&gt;2&lt;/sup&gt; and Italian study group on DADA2&lt;/h5&gt;&lt;h6&gt;\u0000&lt;sup&gt;1&lt;/sup&gt;Central Laboratory of Analysis; &lt;sup&gt;2&lt;/sup&gt;Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini; &lt;sup&gt;3&lt;/sup&gt;DINOGMI, University of Genova; &lt;sup&gt;4&lt;/sup&gt;Genetics of Rare Diseases, IRCCS Istituto Giannina Gaslini; &lt;sup&gt;5&lt;/sup&gt;University of Genova; &lt;sup&gt;6&lt;/sup&gt;Hematology, IRCCS Istituto Giannina Gaslini, Genova; &lt;sup&gt;7&lt;/sup&gt;IRCCS Ospedale San Raffaele, Milano, Italy&lt;/h6&gt;&lt;h5&gt;\u0000&lt;b&gt;Correspondence:&lt;/b&gt; Roberta Caorsi&lt;/h5&gt;&lt;p&gt;&lt;i&gt;Pediatric Rheumatology 2024&lt;/i&gt;, &lt;b&gt;22(2):&lt;/b&gt;PReS24-ABS-1499&lt;/p&gt;&lt;br/&gt;&lt;p&gt;&lt;b&gt;Introduction:&lt;/b&gt; 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].&lt;/p&gt;&lt;p&gt;&lt;b&gt;Objectives:&lt;/b&gt; 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.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Methods:&lt;/b&gt; 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&lt;0.05 for all analyses, with two-tailed tests utilized.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Results:&lt;/b&gt; ADA2 activity in DPS effectively discriminated patients with DADA2 from carriers (AUC=0.946, P&lt;0.001) and carriers from patients with suspected but non-DADA2 conditions (AUC=0.890, P&lt;0.001) with high sensitivity and specificity. A significant inverse correlation existed between DADA2 activity in DPS and age (P&lt;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}