Publications by authors named "Melki I"
Background: Systemic inflammatory diseases (SIDs) have been reported in patients with sickle cell disease (SCD), but clinical data in children are scarce.
Objectives: To identify clinical and laboratory features at diagnosis of SID in children with SCD and to describe their evolution.
Methods: Data from children with SCD and SIDs were retrospectively collected in a French multicenter study from 1991 to 2018.
Human papillomavirus (HPV) infections drive one in 20 new cancer cases, exerting a particularly high burden on women. Most anogenital HPV infections are cleared in less than two years, but the underlying mechanisms that favour persistence in around 10% of women remain largely unknown. Notwithstanding, it is precisely this information that is crucial for improving treatment, screening, and vaccination strategies.
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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.
Objectives: A new form of systemic juvenile idiopathic arthritis (SJIA) with associated lung disease (SJIA-LD) has recently been described. Multiple lines of treatment have failed to yield satisfactory results for this disorder. JAK inhibitors (JAKis) have recently been approved for the treatment of JIA, but clinical evidence of their efficacy in SJIA-LD is still weak.
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- 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.
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- Breaking bad news is a challenging communication task in medicine, prompting a study on the effectiveness of an active learning course for fifth-year students.
- Students were split into two groups: one received hands-on training with multidisciplinary discussions and video workshops, while the other only attended traditional classes.
- Results showed that the actively trained group scored significantly higher in communication skills during practical exams, indicating the training's effectiveness, but further research is needed for long-term validation.
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- 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.
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- Familial Mediterranean fever (FMF) is a hereditary inflammatory disease commonly affecting digestion, but its digestive issues during attack-free periods have been under-researched.
- This study looked at 10 pediatric FMF patients who had endoscopy or colonoscopy and found common features such as the M694V mutation, chronic abdominal pain, iron deficiency, and growth retardation.
- Histological findings showed low-grade mucosal inflammation, indicating a unique intestinal profile that differs from typical inflammatory bowel diseases, suggesting these patients need specialized gastroenterological care.
Multisystem inflammatory syndrome in children (MIS-C) shares several clinical and immunological features with Kawasaki Disease (KD) and pediatric hyperinflammation, but the immuno-phenotypic overlap among these clinical mimics is still incompletely understood. Here we analyzed serum samples from treatment-naïve patients with MIS-C (n = 31) and KD (n = 11), pediatric hyperinflammation (n = 13) and healthy controls (HC, n = 10) by proximity extension assay (PEA) to profile 184 blood biomarkers. Collectively, immunophenotypic overlap between MIS-C and hyperinflammation exceeds overlap with KD.
View Article and Find Full Text PDFImportance: Henoch-Schönlein purpura (HSP) is the most common type of vasculitis in children. The factors that trigger the disease are poorly understood. Although several viruses and seasonal bacterial infections have been associated with HSP, differentiating the specific associations of these pathogens with the onset of HSP remains a challenge due to their overlapping seasonal patterns.
View Article and Find Full Text PDFBackground: In juvenile systemic lupus erythematosus (j-SLE) with neuropsychiatric (NP) symptoms, there is a lack of diagnostic biomarkers. Thus, we study whether PET-FDG may identify any metabolic dysfunction in j-NPSLE.
Methods: A total of 19 FDG-PET exams were consecutively performed using PET-MRI system in 11 non-sedated patients presenting with j-NPSLE (11-18y) for less than 18 months (m) and without any significant lesion at MRI.
Article Synopsis
- NLRP3-associated autoinflammatory disease is a collection of genetic disorders caused by mutations that lead to increased activity of the NLRP3 protein, which complicates diagnosis despite effective treatments available.
- The study explores 34 different NLRP3 mutations, illustrating their functional differences based on how they respond to various signals that activate them, and highlights their link to symptom severity and misdiagnosis.
- Findings reveal critical areas in the NLRP3 protein that affect its activity and response to treatments, offering new perspectives on the disorder's variability and potential directions for improving diagnosis and therapy.
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- Juvenile systemic lupus erythematosus (j-SLE) is a rare autoimmune disease affecting multiple organs, with neuropsychiatric involvement (j-NPSLE) leading to higher morbidity and mortality rates in affected youth.
- *In a retrospective study of j-SLE patients, 44% were diagnosed with j-NPSLE, showcasing common symptoms such as cognitive issues, hallucinations, and mood disorders, with imaging revealing nonspecific brain changes.
- *The study developed a risk score based on clinical features and cerebrospinal fluid analysis to improve the diagnosis and management of j-NPSLE, emphasizing the importance of early recognition and treatment.
Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases with probably differential underlying physiopathology. Despite the revolutionary era of biologics, some patients remain difficult to treat because of disease severity, drug adverse events, drug allergy or association with severe comorbidities, i.e.
View Article and Find Full Text PDFBackground: Kawasaki disease is an acute, febrile, systemic vasculitis of children that primarily affects medium-sized blood vessels with a tropism for the coronary arteries. Although the etiological factors remain unknown, infections have been suggested as the trigger of Kawasaki disease. We sought to calculate the fraction of Kawasaki disease potentially attributable to seasonal infections.
View Article and Find Full Text PDFAn European Alliance of Associations for Rheumatology task force recently recommended specific points to consider for exploring type I interferon pathway in patients, highlighting the lack of analytical assays validated for clinical routine. We report here the French experience on a type I interferon pathway assay that has been set up and used routinely since 2018 in Lyon, France.
View Article and Find Full Text PDFObjectives: Hip involvement remains a predictor of severe juvenile idiopathic arthritis (JIA) course and carries a high risk of disability. This study aims to determine the factors of poor prognosis of hip involvement in patients with JIA and to assess the treatment response.
Methods: This is a multicenter observational cohort study.
Prenatal immune-mediated events are known risk factors for neurodevelopmental disorders in the offspring (NDD). Although the brain continues to develop for years after birth and many postnatal factors alter the regular trajectory of neurodevelopment, little is known about the impact of postnatal immune factors. To fill this gap we set up ARTEMIS, a cohort of juvenile rheumatisms and systemic autoimmune and auto-inflammatory disorders (jRSAID), and assessed their neurodevelopment.
View Article and Find Full Text PDFIntroduction: Juvenile systemic lupus erythematosus (j-SLE) is a rare chronic autoimmune disease affecting multiple organs. Ranging from minor features, such as headache or mild cognitive impairment, to serious and life-threatening presentations, j-neuropsychiatric SLE (j-NPSLE) is a therapeutic challenge. Thus, the diagnosis of NPSLE remains difficult, especially in pediatrics, with no specific biomarker of the disease yet validated.
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- The study explores the effectiveness and safety of off-label targeted therapies in patients with rare autoimmune and inflammatory diseases.
- A total of 100 patients were enrolled, primarily middle-aged women, with a variety of targeted therapies being used and a significant proportion still on corticosteroid treatments.
- Results indicated that 56% of patients found the treatment effective, leading to a significant reduction in corticosteroid dosage, while the overall tolerance of these therapies was deemed acceptable despite some serious health incidents.