Pediatric Rheumatology

Pediatric case of immune-mediated necrotizing myopathy with anti-HMGCR antibodies and dermatomyositis skin rash
Cavillon T, Sacaze E, Noury JB, Abasq C, Cornen G, Ropars J and Devauchelle-Pensec V
Evaluation of temporomandibular joint involvement in juvenile idiopathic arthritis patients
Sefer AP and Erguven M
Juvenile idiopathic arthritis (JIA) is a common, chronic and inflammatory rheumatological disease of childhood. The disease can affect all synovial joints in the body. Temporomandibular joints (TMJs) are important areas of involvement in JIA, which are frequently involved but often not noticed because the involvement is usually asymptomatic. The aim of this study is to determine the frequency and risk factors of TMJ joint involvement in juvenile idiopathic arthritis patients admitted to our clinic, and to guide for early diagnosis and treatment.
The patient's voice: a cross-sectional study of physical health and disability in juvenile idiopathic arthritis
Arneng SM, Jenssen IP, Lundestad A, Cetrelli L, Angenete O, Nordal E, Tylleskär KB, Romundstad PR and Rygg M
With increasing focus on patient-reported outcome measures (PROMs) in chronic rheumatic diseases, we aimed to evaluate the self-reported physical and psychosocial health in children with juvenile idiopathic arthritis (JIA) compared to matched population-based controls. Furthermore, we aimed to study the association of patient- and physician-reported outcome measures in JIA with patient-reported physical disability.
Real-world psychosocial impact among patients with juvenile idiopathic arthritis and families in Spain
Calvo Penadés I, Moreno Ruzafa E, Calzada-Hernández J, Mosquera Angarita J, López Montesinos B, Bou R, López Corbeto M, Sánchez-Manubens J, González Fernández MI, Carriquí Arenas S, Bittermann V, Estepa Guillén C, Rodríguez Díez L, Iglesias E, Marti Masanet M, LaCruz Pérez L, Peral C, De Lossada A, Valderrama M, Llevat N, Montoro M and Antón J
To assess the psychosocial impact of moderate-severe juvenile idiopathic arthritis (JIA) on patients and their families, among those who had been treated with at least one anti-tumor necrosis factor (anti-TNF-α), according to routine clinical practice in Spain.
Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient
Alkaya A, Yıldız AE, Bağlan E and Özdel S
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.
A randomized controlled educational study to evaluate an e-learning module to teach the physical examination of the temporomandibular joint in juvenile idiopathic arthritis
Pan N, Sadun RE, Lerman MA, Resnick CM, Bost JE, Stoustrup P, Twilt M, Ronis T and
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.).
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)
Asna Ashari K, Parvaneh N, Mirnia K, Ayati M, Saeedi M, Salehzadeh F, Shahrooei M, Sangsari R, Rohani P and Ziaee V
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.
Physical (in)activity and screen-based media use of adolescents with juvenile idiopathic arthritis over time - data from a German inception cohort
Milatz F, Pedersen MJ, Klotsche J, Liedmann I, Niewerth M, Hospach A, Horneff G, Klein A, Weller-Heinemann F, Foeldvari I, Kallinich T, Haas JP, Windschall D, Dressler F, Foell D, Kuemmerle-Deschner JB and Minden K
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.
Development and validation of a pediatric internationally agreed ultrasound knee synovitis protocol (PIUS-knee) by the PReS imaging working party
Windschall D, Trauzeddel R, Gohar F, Adiguzel-Dundar H, Hardt S, Krumrey-Langkammerer M, Fotis L, Berendes R, Schua S, Haller M, Demir F, Sözeri B, Magni-Manzoni S and
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.
Clinical characteristics and prognosis of interstitial lung disease in systemic juvenile idiopathic arthritis: a two-center retrospective observational cohort study
Zhan W, Yang J, Qiu L, Yang K, Ye X, Shangguan Y, Yu H and Zheng W
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.
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
Höfel L, Eppler B, Haas JP and Hügle B
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.
Correction: Development and validation of a pediatric internationally agreed ultrasound knee synovitis protocol (PIUS-knee) by the PReS imaging working party
Windschall D, Trauzeddel R, Gohar F, Adiguzel-Dundar H, Hardt S, Krumrey-Langkammerer M, Fotis L, Berendes R, Schua S, Haller M, Demir F, Sözeri B, Magni-Manzoni S and
Epstein-Barr Virus encephalitis associated hemophagocytic lymphohistiocytosis in childhood-onset systemic lupus erythematosus: a case-based review
Cheawcharnpraparn K, Kanjanaphan T, Lertkovit O, Puripat N, Chavanisakun C, Sirimongkolchaiyakul O and Tangcheewinsirikul S
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation that results in an uncontrolled hyperinflammatory state. HLH is classified into two main categories: primary (familial) HLH and secondary (acquired) HLH. Secondary HLH can result from various underlying, including infection-associated hemophagocytic syndrome (IAHS) and macrophage activation syndrome (MAS) associated with rheumatologic disorders, among others. Epstein-Barr virus (EBV) often causes IAHS, but central nervous system (CNS) involvement is rare among systemic lupus erythematosus (SLE) patients. We report a case of EBV encephalitis associated with HLH in a patient with childhood-onset SLE.
Implementation study of the CARRA Uveitis Consensus Treatment Plans: feasibility for clinical practice and applicability for research
Chang MH, Barbar-Smiley F, Akoghlanian S, Drew J, Angeles-Han ST, Quinlan-Waters M, Bohnsack JF, Cooper AM, Edelheit B, Twachtman-Bassett J, Lerman MA, Nanda K, Rabinovich CE, Lo MS and
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.
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
Dahlberg A, Tydén H, Jöud AS, Kahn F and Berthold E
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.
Proceedings of the 31st European Paediatric Rheumatology Congress: part 2
Prevalence of spine pain among Tunisian children and adolescents and related factors
Fazaa A, Cherif I, Miladi S, Boussaa H, Makhlouf Y, Abdelghani KB and Laatar A
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.
Protracted febrile myalgia syndrome in children with familial Mediterranean fever - systematic review and a case report
Hospach T, Blankenburg F, Heinkele A, von Kalle T, Uziel Y, Kallinich T and Rücklová K
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.
Proceedings of the 2024 Childhood Arthritis and Rheumatology Research Alliance (CARRA) Annual Scientific Meeting
14-month-old female with anti-MDA5 juvenile dermatomyositis complicated by liver disease: a case report
Kinkor M, Hameed S, Kats A, Slowik V, Fox E and Ibarra M
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.
Effectiveness and safety of canakinumab in cryopyrin-associated periodic syndrome: a retrospective study in China
Zhu X, Fan J, Huang Y, Xu Y, Yang Z, Weng R, Luo Y, Yang J and He T
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.