Development and Implementation of the AIDA International Registry for Patients With Undifferentiated Systemic AutoInflammatory Diseases

Objective: This paper points out the design, development and deployment of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to pediatric and adult patients affected by Undifferentiated Systemic AutoInflammatory Diseases (USAIDs). Methods: This is an electronic registry employed for real-world data collection about demographics, clinical, laboratory, instrumental and socioeconomic data of USAIDs patients. Data recruitment, based on the Research Electronic Data Capture (REDCap) tool, is designed to obtain standardized information for real-life research. The instrument is endowed with flexibility, and it could change over time according to the scientific acquisitions and potentially communicate with other similar tools; this platform ensures security, data quality and data governance. Results: The focus of the AIDA project is connecting physicians and researchers from all over the world to shed a new light on heterogeneous rare diseases. Since its birth, 110 centers from 23 countries and 4 continents have joined the AIDA project. Fifty-four centers have already obtained the approval from their local Ethics Committees. Currently, the platform counts 290 users (111 Principal Investigators, 179 Site Investigators, 2 Lead Investigators, and 2 data managers). The Registry is collecting baseline and follow-up data using 3,769 fields organized into 23 instruments, which include demographics, history, symptoms, trigger/risk factors, therapies, and healthcare information access for USAIDs patients. Conclusions: The development of the AIDA International Registry for USAIDs patients will facilitate the online collection of real standardized data, connecting a worldwide group of researchers: the Registry constitutes an international multicentre observational groundwork aimed at increasing the patient cohort of USAIDs in order to improve our knowledge of this peculiar cluster of autoinflammatory diseases

A novel plasminogen mutation in a child with hereditary periodic syndrome: A case report

Abstract Introduction Plasminogen (PLG) deficiency is an ultrarare disease. The reported manifestations in literature were linked to pseudomembrane formation and mucosal surfaces inflammation. Recently, PLG, its activators and its receptors have gained more attention in inflammation regulatory processes, including the release of proinflammatory signaling molecules, and thus its role is believed to have clinical implications beyond what has been known. Case Report We present a child with recurrent fever who, although managed initially as familial Mediterranean fever, later on, developed a constellation of findings that were not explained by a classified autoinflammatory disease. Genetic testing revealed a novel homozygous PLG mutation (PLG: c.466G>A: p.D156N) and a likely benign heterozygous MEFV gene variant. We propose that the PLG mutation is responsible for the clinical manifestations, which may or may not be exacerbated by the coexistence of the MEFV variant. A relationship between the PLG pathway, inflammation, and FMF severity has been addressed recently in several studies. Conclusion This report highlights the recently recognized role of the PLG pathway in inflammatory diseases and describes a potentially new presentation of PLG pathogenesis. Further studies are needed to confirm this finding and allow for a more definitive conclusion

Effect of light curing on the efficacy of silver diamine fluoride: A systematic review

الملخص: أهداف البحث: مقارنة أداء فلوريد ثنائي أمين الفضة المعالج بالضوء مع فلوريد ثنائي أمين الفضة غير المعالج بالضوء من حيث الخصائص المختلفة. طريقة البحث: بعد استرجاع الأوراق البحثية (حتى أبريل 2023) من قواعد البيانات الإلكترونية (''بابميد'' و ''سكوبس'' و ''ساينس دايركت'') باستخدام العوامل المنطقية، تم البحث يدويا في قوائم الاقتباسات الخاصة بالأوراق المضمنة. كانت جميع المقالات المضمنة عبارة عن دراسات أصلية نصية كاملة أجريت باللغة الإنجليزية والتي قيمت تأثير فلوريد ثنائي أمين الفضة المعالج بالضوء وقارنته بفلوريد ثنائي أمين الفضة وحده. تم تقييم خطر التحيز في الدراسات المختبرية على مواد طب الأسنان باستخدام القائمة المرجعية المعدلة للمعايير الموحدة لتجارب إعداد التقارير. النتائج: تم تضمين ست دراسات في المجموع للتحليل النوعي بعد البحث اليدوي الشامل والبحث في قاعدة البيانات الإلكترونية. وكانت خمس دراسات عبارة عن دراسات في المختبر وواحدة كانت دراسة خارج الجسم الحي. قارنت كل دراسة فلوريد ثنائي أمين الفضة المعالج بالضوء مقابل فلوريد ثنائي أمين الفضة غير المعالج بالضوء من حيث الخصائص المختلفة مثل عمق الاختراق، وترسيب أيونات الفضة، وصلابة العاج، وتشكل السطح، والخصائص المضادة للبكتيريا. تم تصنيف غالبية الدراسات (4/6) على أنها ذات جودة منخفضة وتحيز عالي المخاطر، في حين تم الحكم على الدراستين المتبقيتين بأنها ذات جودة عالية وتحيز منخفض المخاطر. الاستنتاجات: في حدود هذا البحث، أظهر فلوريد ثنائي أمين الفضة المعالج بالضوء أنه طريقة فعالة لتعزيز خصائص فلوريد ثنائي أمين الفضة بالمقارنة مع فلوريد ثنائي أمين الفضة غير المعالج بالضوء. لا تزال الدراسات المستقبلية عالية الجودة ضرورية للتحقق من هذه النتائج، وخاصة التجارب السريرية العشوائية. يمكن أن يكون استخدام المعالجة الضوئية بفلوريد ثنائي أمين الفضة بمثابة استراتيجية مفيدة تعزز الاستخدام السريري لفلوريد ثنائي أمين الفضة. إن مراجعة المقارنة بين الخصائص المختلفة لفلوريد ثنائي أمين الفضة المعالج بالضوء وفلوريد ثنائي أمين الفضة غير المعالج بالضوء ستساعد الأطباء على تعزيز استخدامه السريري وقبول المريض. Abstract: Objective: This study was aimed at comparing the performance of light-cured (LC) silver diamine fluoride (SDF) to non-LC SDF in dental applications, in terms of various properties. Methods: Articles published until April 2023 were retrieved from electronic databases (PubMed, Scopus and Science Direct) according to Boolean operators, and the reference lists of the included articles were manually searched. The included articles were all full-text, original studies in English that assessed the effects of LC SDF compared with SDF alone. The risk of bias in the in vitro studies on dental materials was evaluated with the modified Consolidated Standards of Reporting Trials (CONSORT) checklist. Results: Six studies (five in vitro and one ex vivo) were included in qualitative analysis after a comprehensive manual search and electronic database search. Every study compared LC SDF versus non-LC SDF in terms of properties such as penetration depth, silver ion precipitation, dentine hardness, surface morphology and anti-bacterial characteristics. Four studies were categorised as low quality with a high risk of bias, whereas the remaining two studies were considered high quality with a low risk of bias. Conclusion: In this investigation, LC SDF, compared with non-LC SDF, was found to be an efficacious approach for enhancing SDF properties. Future high-quality studies, particularly randomised clinical trials, remain necessary to verify these findings. Clinical significance: The use of light curing with SDF can be a beneficial strategy that enhances SDF's clinical use. This review comparing various properties of LC SDF and non-LC SDF may help clinicians enhance clinical use and patient acceptance of LC SDF

Hallmark trials in ANCA-associated vasculitis (AAV) for the pediatric rheumatologist

Abstract Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) refers to a complex group of systemic vasculitides that are characterized by primary small-to-medium sized blood vessel inflammation with the presence of autoantibodies known as ANCA. AAV diseases include Granulomatosis with Polyangiitis (GPA), Eosinophilic Granulomatosis with Polyangiitis (EGPA), and Microscopic Polyangiitis (MPA). AAVs are challenging conditions associated with high cumulative disease and treatment related morbidity and mortality. Given its rarity and the resulting paucity of pediatric-specific clinical trial evidence, pediatric rheumatologists have had to often extrapolate from adult literature for management and therapeutic decisions. The aim of this review is to provide a comprehensive overview of the important findings and overall conclusions of critical landmark clinical trials in the induction and maintenance treatments in adult AAV for the pediatric rheumatologist. This review also highlights the outcomes of recent pediatric AAV observational studies and discusses the future research priorities in pediatric AAV management

Validation Of The Cutaneous Lupus Erythematosus Disease Area And Severity Index And Pskindex27 For Use In Childhood-Onset Systemic Lupus Erythematosus

Objective To determine the measurement properties of the Cutaneous Lupus Erythematosus Disease Area and Severity Index (CLASI) and the paediatric adaptation of the Skindex29 (pSkindex27) when used in childhood-onset SLE (cSLE). Methods Patients with mucocutaneous involvement of cSLE were evaluated at the study entry and 6 months later. Besides the CLASI and pSkindex27, the Pediatric Quality of Life Inventory Generic Core scale (PedsQL-GC), its Rheumatology Module (PedsQL-RM), the SLE Disease Activity Index (SLEDAI) and the SLE Damage Index (SDI) were completed. Results The CLASI and pSkindex27 had high internal consistency (both Cronbach α >0.82). Children were able to complete the pSkindex27, with self-report and caregiver proxy-reports showing excellent agreement (intraclass correlation coefficient=0.97). The CLASI Activity Score (CLASI-A) was strongly correlated with the mucocutaneous domain score of the SLEDAI as was the CLASI Damage Score (CLASI-D) with that of the SDI (both: Spearman correlation coefficients (rs) >0.68). pSkindex27 summary scores were moderately correlated with those of the PedsQL-GC and PedsQL-RM (all: rs >|0.51|), the CLASI-A and CLASI-D (both: rs > 0.64), respectively. Patients who experienced a >50% improvement of the CLASI-A between study visits had significantly higher PedsQL-GC and pSkindex27 scores than those without improvement of mucocutaneous features. Conclusion Both CLASI and pSkindex27 are useful assessment tools in cSLE, active and chronic mucocutaneous lesions and their changes over time can be measured using the CLASI and the pSkindex27 can capture the impact of mucocutaneous involvement on patient health-related quality of life.PubMedScopu

Establishing core domain sets for Chronic Nonbacterial Osteomyelitis (CNO) and Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO): A report from the OMERACT 2020 special interest group.

OBJECTIVE: A working group was established to develop a core domain set (CDS) for Chronic Nonbacterial Osteomyelitis (CNO) and Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) following the OMERACT filter 2.1. METHODS: A scoping review to identify disease-related manifestations was performed, followed by a special interest group (SIG) session at OMERACT2020 to begin the CNO/SAPHO CDS framework. RESULTS: Candidate items were identified from the scoping review and most fell under Life Impact and Pathophysiology Manifestation core areas. A SIG agreed on the need to develop a CDS for CNO and SAPHO (100%) and for children and adults (91%). CONCLUSION: Based on candidate items identified, qualitative research and Delphi surveys will be performed as next steps