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Ход работы сессии 31st Европейский педиатрический конгресс по педиатрии: часть 2.

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VEXAS Syndrome: A Comprehensive Review of Current Therapeutic Strategies and Emerging Treatments.

VEXAS syndrome is a recently identified autoinflammatory disorder resulting from somatic mutations in the UBA1 gene, leading to a complex spectrum of severe inflammatory and hematologic manifestations. The absence of established treatment guidelines and the variability in clinical presentation make its management particularly challenging. Current therapeutic approaches are often based on limited evidence, and their effectiveness remains inconsistent. This review seeks to consolidate the existing knowledge on therapeutic strategies for VEXAS syndrome, offering a critical evaluation of their eff

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… Case report: VEXAS syndrome: An atypical indolent presentation as sacroiliitis with molecular response to azacitidine. Front. Immunol. 2024;15:1403808. doi: 10.3389/fimmu.2024.1403808. 52. …

Diagnosis, treatment, and follow-up of patients with hypophosphatasia.

INTRODUCTION: Hypophosphatasia is a rare inherited systemic metabolic disorder, with an estimated prevalence in the severe forms of the disease of 1/100.000-1/300.000, that affects the typical architecture of bone, leading to defective mineralization during growth and remodeling. It is characterized by loss-of-function variants in the ALPL gene, resulting in low activity of tissue-nonspecific alkaline phosphatase. In severe cases, it can be fatal. OBJECTIVE: To generate recommendations on the diagnosis, treatment, and follow-up of patients with hypophosphatasia based on available evidence. M

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… In adults with HPP and osteomalacia-associated complications, pseudofractures, intractable musculoskeletal pain requiring or unresponsive to opioids (spondyloarthropathies, sacroiliitis, enthesopathy, chondrocalcinosis, among others), fragility fractures, delayed consolidation, nonunion of fractures, …

Ход работы сессии 29th Европейский конгресс педиатрии.

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Е-постеры.

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ECC-4 Abstracts

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How does academia respond to the burden of infectious and parasitic disease?

BackgroundAcademic research is one of the main avenues through which humans can fight the threat of infectious diseases. However, there have been concerns regarding whether the academic system has provided sufficient efforts to fight infectious diseases we potentially face. Answering these questions could contribute to evidence-based recommendations for setting research priorities and third-mission policies.MethodsWith a focus on one of the most common categories of communicable diseases, infectious and parasitic diseases (IPDs), we searched Web of Science for articles and reviews relevant to

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… Plantar fasciitis" OR "Prepatellar bursitis" OR "Tendinitis" OR "Tenosynovitis" OR "Ankylosing spondylitis" OR "Cervical spondylosis" OR "Coccygodynia" OR "Costochondritis" OR "Degenerative disc disease" OR "Diastasis recti" OR "Kyphosis" OR "Lumbosacral spondylosis" OR "Postlaminectomy syndrome" OR "Sacroiliitis …

Proceedings of the 27th European Paediatric Rheumatology Congress (PReS 2021) : Virtual. 19-21 September 2021

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Oral Presentations

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Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide.

Monogenic autoinflammatory diseases are rare conditions caused by genetic abnormalities affecting the innate immunity. Previous therapeutic strategies had been mainly based on results from retrospective studies and physicians' experience. However, during the last years, the significant improvement in their genetic and pathogenic knowledge has been accompanied by a remarkable progress in their management. The relatively recent identification of the inflammasome as the crucial pathogenic mechanism causing an aberrant production of interleukin 1β (IL-1β) in the most frequent monogenic autoinflamm

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… Bilgen SA Kilic L Akdogan A Kiraz S Kalyoncu U Karadag O Effects of anti-tumor necrosis factor agents for familial mediterranean fever patients with chronic arthritis and/or sacroiliitis who were resistant to colchicine treatment . …

Precision medicine: The use of tailored therapy in primary immunodeficiencies.

Primary immunodeficiencies (PID) are rare, complex diseases that can be characterised by a spectrum of phenotypes, from increased susceptibility to infections to autoimmunity, allergy, auto-inflammatory diseases and predisposition to malignancy. With the introduction of genetic testing in these patients and wider use of next-Generation sequencing techniques, a higher number of pathogenic genetic variants and conditions have been identified, allowing the development of new, targeted treatments in PID. The concept of precision medicine, that aims to tailor the medical interventions to each patie

Infectious Diseases

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… Other than fever, may involve any organ system, particularly joints (sacroiliitis), GU (epididymo-orchitis), CNS (meningitis), eyes (uveitis), cardiac (endocarditis), pulmonary (pneumonitis, pleural effusion, empyema), and can cause abscesses (hepatic, splenic, thyroid, epidural). …

Infectious Diseases

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… Other than fever, may involve any organ system, particularly joints (sacroiliitis), GU (epididymo-orchitis), CNS (meningitis), eyes (uveitis), cardiac (endocarditis), pulmonary (pneumonitis, pleural effusion, empyema), and can cause abscesses (hepatic, splenic, thyroid, epidural). …

Seropositive Neuromyelitis Optica in a Case of Undiagnosed Ankylosing Spondylitis: A Neuro-Rheumatological Conundrum.

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune astrocytopathy against foot processes of aquaporin-4 (AQP4) water channels. … LETM from C5 to D4 level (Figure 1). Meanwhile, an MRI of the sacroiliac joints revealed bilateral sacroiliitis. Brain and orbital MRIs were devoid of any lesions. Anti-aquaporin 4 (AQP-4) antibodies were tested by cell-based assay in serum and cerebrospinal fluid (CSF), and both were positive. CSF further revealed lymphocytic pleocytosis and increased intrat …

Электронные постеры

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Mucosal-Associated Invariant T Cells in Health and Disease.

Mucosal-associated invariant T (MAIT) cells are a population of evolutionarily conserved, unconventional innate-like T lymphocytes that are restricted by major histocompatibility complex Class I-related (MR1) molecules. They can be activated either in a T-cell receptor-MR1- or cytokine-dependent manner. Activated MAIT cells play crucial roles in maintaining homeostasis and the fine regulation of the immune system. This review presents a systematic exploration of the development, biological characteristics, and multiple effects of MAIT cells in health and various diseases. In healthy individual

Rare Diseases of the Orbit.

This article provides an overview of rare orbital diseases. Congenital malformations, inflammatory diseases, benign and malignant neoplasias are described. Although it represents a relatively small area of the body the orbit contains multiple different tissues. Therefore, a great variety of diseases can be found within the orbital space. That is the reason, why both the completeness and the level of detail in the description of particular diseases must be somewhat limited. Nevertheless, clinical manifestations, important aspects of diagnosis, treatment strategies, and, when specific data are a

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… pediatric equivalent of SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis) prevalence: 1–2:1,000,000 age peak around 10 years 69 Etiology multifocal bony lesions frequent association with other chronic inflammatory diseases, e. g., rheumatoid arthritis (RA), Crohn’s disease, sacroiliitis …

Е-постеры.

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Всемирный конгресс по болезням остеопороза, остеоартрита и мускулоскелета 2025).

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Резюме докладов 38th - ежегодное собрание общества общей внутренней медицины.

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