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Ход работы сессии 28th Европейский конгресс педиатрической ремуматологии (ПСР) 2022) Прага, Чешская Республика. 20-23 сентябрь 2022.

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… yrs | 5.0 (2.8-9.3) | 177 | 7.8 (3.9-12.5) | 85 | <0.01* Duration of follow-up, median (IQR) yrs | 5.2 (2.1-9.5) | 177 | 2.4 (1.0-5.1) | 85 | <0.0001* Number of visits, median (IQR) | 16 (8-29) | 177 | 9 (5-17) | 85 | 0.0001* Rash at baseline, n (%) | 119 (77%)§ | 155 | 75 (100%)§ | 75 | <0.0001†§ Serositis … The patient who carried the SHOC2 variant presented polyarthritis and serositis, while the patient with the TNFRSF13B variant onset with a glomerulonephritis. Those manifestations have already been described related to these gene variants. …

Precision genomic profiling in Gaucher disease: insights from atypical presentations.

BackgroundGaucher disease (GD) is characterized by significant phenotypic heterogeneity, even among patients with identical GBA1 genotypes, suggesting the role of genetic and/or epigenetic modifiers. The enzymatic defect and pathological accumulation of glucosylceramide (GlcCer) lead to chronic metabolic inflammation, providing ample opportunities for interaction with other biological pathways to influence disease expression. Herein, we developed a model of precision medicine in this prototype single-gene disorder.MethodsThis study leveraged a well-characterized, longitudinally followed cohort

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… By mapping clinical “red flags” across musculoskeletal, hematologic/visceral, neurologic, oncologic, and cardiovascular domains, the figure highlights how seemingly incongruent findings such as recurrent febrile serositis, florid proximal myopathy, iron overload with high ferritin and saturation, early …

Ход работы сессии 25th Европейский конгресс педиатрической ремуматологии (ПСР) 2018) Лиссабон, Португалия. 5-8 сентябрь 2018

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Targeting CD38 Across Autoimmune and Plasma Cell-Driven Immune-Mediated Diseases: Rationale, Clinical Evidence, and Emerging Therapeutic Landscape.

Autoimmune diseases remain a major cause of chronic morbidity despite substantial advances in targeted immunomodulatory therapies. In many autoantibody-mediated conditions, disease refractoriness and relapse are driven by long-lived plasma cells, which are largely resistant to conventional immunosuppression and upstream B cell-directed strategies. CD38, a surface molecule highly expressed on plasmablasts and plasma cells and functionally involved in immunometabolic regulation, has emerged as a promising therapeutic target to overcome this limitation. Clinical interest in anti-CD38 therapy has

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… BAFF inhibition, and type I interferon blockade, have improved disease control in many patients, a substantial proportion develop refractory disease, particularly in the presence of persistent autoantibody production and severe organ involvement such as lupus nephritis, hematological cytopenias, or serositis …

Progress in Biological Therapies for Adult-Onset Still's Disease.

Adult-onset Still's disease (AOSD) is a rare multifactorial autoinflammatory disorder of unknown etiology, characterized by an excessive release of cytokines triggered by dysregulated inflammation and articular and systemic manifestations. The clinical spectrum of AOSD ranges from self-limiting forms with mild symptoms to life-threatening cases and presents clinical and biological similarities with the juvenile form (sJIA). Nowadays, the advances in biologic agents no longer limit the treatment to NSAIDs, glucocorticoids, or conventional synthetic DMARDs. The blockade of IL-1 and IL-6 is effec

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… The main clinical features (spiking fever, arthritis, skin rash, and hyperferritinemia), as well as other minor features (sore throat, lymphadenopathy, hepatosplenomegaly, thrombocytosis, serositis, myalgia, neutrophilic leukocytosis, inflammatory anemia), characterized the disease. 3 During the diagnostic …

Multisystemic sarcoidosis-important lessons learnt from one of the great imitators.

We report a case of a woman who was admitted with a suspicion of metastatic malignancy of unknown primary origin. A few months prior to her admission, she presented to a rheumatologist with acute anterior uveitis, psoriasiform rashes and polyarthritis. A diagnosis of psoriatic arthropathy was made and she was treated accordingly. Soon after she presented with persistent back and right upper quadrant abdominal pain for which she had a CT scan done with evidence of hilar lymphadenopathy, liver hypodensities and lytic-sclerotic bone lesions. She was referred to our hospital for further investigat

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… thrombocytosis, fever, jaw claudication, scalp tenderness, amaurosis fugax, arthritis, aortitis, stroke Systemic lupus erythematosus | Usually affects ladies of reproductive age May affect any organ system Photosensitivity, alopecia, recurrent oral ulcers, arthralgia/arthritis, tenosynovitis, cytopenia, sicca, serositis …

Interventional radiology in the elderly.

Interventional radiological percutaneous procedures are becoming all the more important in the curative or palliative management of elderly frail patients with multiple underlying comorbidities. They may serve either as alternative primary minimally invasive therapies or adjuncts to traditional surgical treatments. The present report provides a concise review of the most important interventional radiological procedures with a special focus on the treatment of the primary debilitating pathologies of the elderly population. The authors elaborate on the scientific evidence and latest developments

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

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Immunotherapeutic approaches for systemic lupus erythematosus: early overview and future potential.

Systemic lupus erythematosus (SLE) is a complex autoimmune disease. Current SLE therapies include immunosuppressants, antimalarial drugs, non-steroidal anti-inflammatory drugs (NSAIDs), and corticosteroids, but these treatments can cause substantial toxicities to organs and may not be effective for all patients. In recent years, significant progress has been made in the treatment of SLE using immunotherapy, including Benlysta and Saphnelo. These advances in immunotherapy hold promise for SLE patients, providing new therapeutic options that may offer better clinical benefit and effectiveness. S

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… Steps | Contents | Reference Clinical phenotype | Malar rash, photosensitivity, discoid rash, oral ulcers, arthritis, serositis, renal disorder, neurologic disorder, hematologic disorder, antinuclear antibodies, immunologic disorders. | [ 97 ] Personalized diagnosis | (1) Multi-omic analysis detects …

Stem Cell Transplantation

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Ход работы сессии 29th Европейский конгресс педиатрии.

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… Conclusion: FMF Patients with a pathogenic exon 10 mutation either in a homozygous or compound heterozygous state not only have higher rates of serositis, erysipelas like erythema and amyloidosis, but also tend to have more frequent joint involvement with a longer remission period. …

Renal Involvement in Mixed Cryoglobulinemic Vasculitis: Current Perspectives.

Cryoglobulinemia is a rare disorder characterized by the presence of abnormal proteins (cryoglobulins) in the blood that precipitate at low temperatures. It presents with a wide clinical spectrum, from mild symptoms to severe, life-threatening disease. In mixed cryoglobulinemia (MC), vascular damage results from immune complexes-typically monoclonal IgM with rheumatoid factor activity and polyclonal IgG (Type II), or polyclonal/oligoclonal IgM and IgG (Type III). These complexes can obstruct small blood vessels, leading to ischemia and leukocytoclastic vasculitis. Renal involvement occurs in a

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… The clinical presentation of SLE varies from one patient to another, including constitutional symptoms (fatigue, fever), mucocutaneous involvement (malar rash, photosensitivity), arthralgia and non-erosive arthritis, serositis (pericarditis and pleuritis), hematological abnormalities, and cardiac, neurological …

Acute Kidney Injury in Monoclonal Gammopathies.

Monoclonal gammopathies (MG) encompass a variety of disorders related to clonal expansion and/or malignant transformation of B lymphocytes. Deposition of free immunoglobulin (Ig) components (light or heavy chains, LC/HC) within the kidney during MG may result over time in multiple types and degrees of injury, including acute kidney injury (AKI). AKI is generally a consequence of tubular obstruction by luminal aggregates of LC, a pattern known as "cast nephropathy". Monoclonal Ig LC can also be found as intracellular crystals in glomerular podocytes or proximal tubular cells. Proliferative glom

Emerging evidence of the molecular landscape specific for hematogenous metastasis from gastric cancer.

Gastric cancer (GC) is one of the most frequently diagnosed cancers in the world. Most GC patients are diagnosed when the cancer is in an advanced stage, and consequently, some develop metastatic lesions that generally cause cancer-related death. Metastasis establishment is affected by various conditions, such as tumor location, hemodynamics and organotropism. While digestive cancers may share a primary site, certain cases develop hematogenous metastasis with the absence of peritoneal metastasis, and vice versa. Numerous studies have revealed the clinicopathological risk factors for hematogeno

CAR-T cell therapies in autoimmune rheumatic diseases: a brief report on the clinical trial landscape, current status, and future perspectives.

Autoimmune rheumatic diseases (ARDs) are chronic inflammatory disorders where B cells play a key role. Traditional B-cell-targeted therapies have limitations, whereas CAR-T-cell therapy, which aims for a broader reset of the B-cell compartment by targeting B-cell surface markers such as CD19 or B-cell maturation antigen (BCMA), has unique advantages. Currently, most CAR-T cell trials for ARDs are in the early stages, with 64.29% (36/56 trials) of studies being phase I trials and only 7.14% (4/56 trials) progressing to phase II trials, primarily focusing on conditions, such as systemic lupus er

Advances in the treatment of systemic lupus erythematosus: Biologicals, small-molecular agents, and cell-depleting therapies coming to the clinic.

Systemic lupus erythematosus (SLE; lupus) remains a particular challenge for the practicing clinician on account of its chronic undulating and unpredictable course, its diverse manifestations, and-until recently-limited treatment options all associated with considerable downsides. However, a major change in this situation is currently taking place. Over the past few years, several new biological therapeutics have been approved for the treatment of SLE (belimumab and anifrolumab) or specifically for its renal organ manifestation (obinutuzumab), along with one new small molecular treatment for t

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… Moderate disease: moderate–severe arthritis (“rheumatoid arthritis‐like”; rash 9%–18% body surface area; platelet count 20–50 × 109/L; serositis; SLEDAI 7–12; ≥2 BILAG B manifestations). …

Effects of Dietary Oleacein Treatment on Endothelial Dysfunction and Lupus Nephritis in Balb/C Pristane-Induced Mice.

Systemic lupus erythematosus (SLE) is a chronic immune-inflammatory disease characterized by multiorgan affectation and lowered self-tolerance. Additionally, epigenetic changes have been described as playing a pivotal role in SLE. This work aims to assess the effects of oleacein (OLA), one of the main extra virgin olive oil secoiridoids, when used to supplement the diet of a murine pristane-induced SLE model. In the study, 12-week-old female BALB/c mice were injected with pristane and fed with an OLA-enriched diet (0.01 % (w/w)) for 24 weeks. The presence of immune complexes was evaluated by i

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… The pristane-induced lupus model is characterized by the presence of proteinuria, serositis, and glomerulonephritis. We observed splenomegaly and an increase in the thymus weight in SD-pristane-induced mice compared to the naïve group. …

Translating IL-6 biology into effective treatments.

In 1973, IL-6 was identified as a soluble factor that is secreted by T cells and is important for antibody production by B cells. Since its discovery more than 40 years ago, the IL-6 pathway has emerged as a pivotal pathway involved in immune regulation in health and dysregulation in many diseases. Targeting of the IL-6 pathway has led to innovative therapeutic approaches for various rheumatic diseases, such as rheumatoid arthritis, juvenile idiopathic arthritis, adult-onset Still's disease, giant cell arteritis and Takayasu arteritis, as well as other conditions such as Castleman disease and

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… In sJIA, arthritis is associated with prominent systemic features, including high spiking fever, rash, serositis and inflammatory signs. This disease is further characterized by high morbidity and mortality rates, joint destruction, functional disability and growth retardation 80 . …

Клеточная терапия ревматических и мышечных заболеваний.

Значительная часть пациентов, у которых диагностированы ревматологические и мускулоскелетные заболевания (РМ), демонстрируют устойчивость к традиционной терапии или испытывают повторяющиеся симптомы. Эти заболевания, к которым относятся аутоиммунные расстройства, такие, как множественный склероз, ревматоидный артрит и системный волшебный эритематос, характеризуются наличием автоматически реактивных клеток B, играющих решающую роль в их патогенезе. Стойкость этих самореактивных клеток В в лимфатических органах и воспаленных тканях снижает эффективность таких моноклонных антител, как ритуксимаб,

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… These autoantibodies contribute to various symptoms, including cutaneous lupus [ 164 ], lupus nephritis [ 165 ], neuropsychiatric lupus [ 166 ], and lupus-associated serositis [ 167 ]. …

Biological therapy in systemic lupus erythematosus, antiphospholipid syndrome, and Sjögren's syndrome: evidence- and practice-based guidance.

Systemic lupus erythematosus (SLE), antiphospholipid syndrome (APS), and Sjögren's syndrome (SS) are heterogeneous autoimmune diseases. Severe manifestations and refractory/intolerance to conventional immunosuppressants demand other options, namely biological drugs, and small molecules. We aimed to define evidence and practice-based guidance for the off-label use of biologics in SLE, APS, and SS. Recommendations were made by an independent expert panel, following a comprehensive literature review and two consensus rounds. The panel included 17 internal medicine experts with recognized practice

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… Its use as add-on therapy in SLE has been described in case reports, with successful outcomes in patients with arthritis flares ( 88 , 89 ) or with refractory serositis ( 90 , 91 ). Tocilizumab was also used successfully in one SLE patient with AIHA refractory to RTX treatment ( 92 ). …