Publications by authors named "Isabelle Kone-Paut"
Objectives: Minor salivary gland biopsy (MSGB) is a minimally invasive test used in suspected autoimmune diseases. Our study goal was to evaluate diagnostic performance of MSGB in children suspected of Sjogren's syndrome (SS).
Methods: We did a retrospective monocentric study on patients under 18 years old who had a MSGB between October 2011 and December 2021 at Bicêtre University Hospital.
Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines.
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- - The study reviewed 11 pediatric patients diagnosed with neurosarcoidosis (NS), predominantly affecting girls, with an average diagnosis age of around 10 to 11.5 years, highlighting typical neurological symptoms such as headaches and eye involvement.
- - Most patients experienced meningitis and were treated primarily with corticosteroids and TNF-alpha inhibitors, with eight out of 11 requiring biologic therapies to achieve remission.
- - The findings emphasize the importance of recognizing the clinical features of pediatric NS and suggest that early intervention with TNF-alpha biologics can lead to better management outcomes for these children.
Article Synopsis
- A study compared the effectiveness and safety of infliximab and cyclophosphamide as induction therapies for severe Behçet's syndrome involving major vascular or CNS issues.
- Infliximab showed a higher complete response rate (81%) compared to cyclophosphamide (56%), indicating it may be more effective.
- Additionally, infliximab had fewer adverse events (29.6%) compared to cyclophosphamide (64%), suggesting it may also be safer for patients.
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- A study on European FMF patients found that 20% experienced a diagnostic delay of over 10 years, with affected individuals being significantly older.
- Women were more likely to have this diagnostic delay compared to men, and specific symptoms like erysipelas-like erythema were more prevalent in delayed diagnosis cases.
- Delayed-diagnosis patients also had higher occurrences of AA amyloidosis and were more frequently treated with biotherapy, indicating more severe disease consequences.
Article Synopsis
- Transitioning from pediatric to adult care is crucial for individuals with autoinflammatory diseases, yet the effectiveness of such programs, especially for specific diseases, is not well-researched.
- A study at the French National Reference Center reviewed medical records of 111 young adults with autoinflammatory diseases to analyze the impact of transition types on healthcare follow-up and disease management.
- Results indicated that those who underwent any form of transition had more regular follow-ups than those with no transition, and while the transition type didn't significantly affect disease control, collaborative approaches may enhance patient outcomes overall.
Article Synopsis
- - The study assessed safety events in patients with Autoinflammatory diseases using data from the Eurofever registry, focusing on adverse events (AEs) reported since 2009.
- - A total of 2464 patients were included in the analysis, highlighting that 479 AEs were reported, with serious AEs and drug-related AEs being particularly noted, especially in relation to biologic DMARDs and colchicine.
- - The findings underscore the need for consistent monitoring of AEs in rare conditions to better understand the safety of treatments.
Article Synopsis
- Paediatric granulomatous uveitis (PGU) is a rare eye condition in kids that can cause serious problems with vision if not diagnosed early.
- The study looked at 50 young patients to understand the causes, treatments, and outcomes related to this condition.
- Most cases were either "idiopathic" (no known cause) or caused by sarcoidosis, and many kids experienced complications, so doctors often used treatments like corticosteroids and methotrexate.
Introduction: Vascular events account for a considerable burden of morbidity and mortality in Behçet syndrome (BS). Thrombosis occurs in 1.8-21 % pediatric BS patients, even if the real prevalence is still largely unknown.
View Article and Find Full Text PDFObjectives: We aimed to compare clinical spectrum and outcome between adults and children with Takayasu's arteritis (TAK) in a European population.
Methods: We made a nationwide retrospective observational study between 1988 and 2019. All adult patients met the ACR diagnostic criteria for TAK and all children met the EULAR/PRINTO/PRES criteria for paediatric TAK.
Background: Our study aimed to provide real-world evidence on the treatment patterns, effectiveness and safety of canakinumab in France in Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiency (MKD), and Tumor necrosis factor Receptor Associated Periodic Syndrome (TRAPS).
Methods: This study used the JIR cohort, a multicentre international registry created in 2013 to collect data on patients with juvenile inflammatory rheumatic diseases. French patients diagnosed with FMF, MKD or TRAPS and treated with canakinumab were included in this study.
Objective: To investigate the safety and efficacy of subcutaneous tocilizumab (SC-TCZ) treatment in a long-term extension (LTE) of clinical trials in polyarticular or systemic juvenile idiopathic arthritis (pJIA or sJIA).
Methods: Patients with pJIA or sJIA from two open-label, 52-week phase 1b core trials of SC-TCZ who had adequate response per investigator assessment entered the LTE and continued SC-TCZ treatment according to body weight-based dosing regimens until commercial availability or up to 5 years. Pharmacokinetics, pharmacodynamics, and efficacy were assessed for up to 3 years, and safety for up to 5 years in the LTE.
Introduction: Multisystemic inflammatory syndrome in children (MIS-C) is a therapeutic emergency and can lead to myocardial dysfunction (17%-75%) and heart failure (52%-53%). Intravenous immunoglobulins (IVIG) and corticosteroids (CST) have been validated for the management of this condition. Recent reports suggest that an interleukin-1 (IL-1) receptor antagonist, namely anakinra, may be a valuable add-on to the 2019 novel coronavirus disease (COVID-19) treatment for refractory patients.
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- The study aimed to validate the Pediatric Behçet's Disease criteria using an evidence-based method, involving 210 pediatric patients with various conditions.
- After evaluations by blinded experts, a consensus was reached for 66.2% of patients, identifying 24 as confirmed Behçet's Disease and 10 as probable.
- The PEDBD criteria showed high specificity but lower sensitivity compared to other criteria, highlighting the need for further research with larger international cohorts to assess their effectiveness.
Background: Pediatric Behçet's disease (PBD) is rarer than BD and can be a challenging diagnosis as clinical picture may be incomplete. As in adult patients, sight-threatening ocular manifestations may lead to diagnosis. In this study, we aimed to report a series of cases of PBD with ocular manifestations and provide a review of the literature.
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- Medical child abuse (MCA) is a serious issue where adults intentionally harm children’s health, and there is limited data on its occurrence in adolescents.
- A study of 29 adolescents with suspected or confirmed MCA revealed significant medical wandering, with them visiting multiple hospitals and undergoing numerous tests, and most had underlying health issues.
- MCA severely affects the quality of life, leading to high school dropout rates and a long delay in diagnosis, highlighting the need for better awareness and education among medical professionals.
Diagnosis and Management of Non-Infectious Uveitis in Pediatric Patients.
Paediatr Drugs
January 2024
Uveitis in children accounts for 5-10% of all cases. The causes vary considerably. Classically, uveitis is distinguished according to its infectious or inflammatory origin and whether it is part of a systemic disease or represents an isolated ocular disease.
View Article and Find Full Text PDFObjectives: Extra-osseous (EO) manifestations are poorly characterized in chronic recurrent multifocal osteomyelitis (CRMO). This study aimed to further define the frequency, characteristics and treatment of EO events in CRMO and whether different phenotypes can be distinguished and benefit from special management.
Methods: This multicentre retrospective study included CRMO patients followed in several paediatric rheumatology departments in France between 2015 and 2022.
Article Synopsis
- A study compared two ways of giving a medicine called tocilizumab to patients with a disease called Takayasu arteritis (TAK).
- They looked at 109 patients from different countries and found that both methods worked similarly well after 6 months, with about 69% showing improvement.
- However, patients who got tocilizumab as a shot under the skin had a higher chance of getting worse again compared to those who received it through an IV.
Introduction: Multisystem inflammatory syndrome in children (MIS-C) is a new condition that first appeared in children and adolescents during the COVID-19 pandemic. We aimed to describe the diagnostic course, clinical and biological manifestations, and treatment of MIS-C during the first three COVID-19 waves.
Methods: We extracted patient data from the Juvenile Inflammatory Rheumatism (JIR) cohort.
Background: Despite guidelines, poor access to appropriate care for juvenile idiopathic arthritis (JIA) patients remains a global issue. Prompt referral to a pediatric rheumatology (PR) center and effective care is known to be critical for changing the natural history of the disease and improving long-term prognosis. This project assesses socio-economic factors of delayed referral to a pediatric rheumatologist (PRst) for JIA patients in France and Switzerland within the Juvenile Inflammatory Rheumatism (JIR) Cohort.
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