Pediatric Rheumatology最新文献

{"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":"https://doi.org/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}