Pericardial Diseases

JACC. Cardiovascular imaging, Год журнала: 2024, Номер 17(8), С. 937 - 988

Опубликована: Авг. 1, 2024

Язык: Английский

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Medical therapy of pericarditis: tips and tricks for clinical practice

Journal of Cardiovascular Medicine, Год журнала: 2024, Номер unknown

Опубликована: Апрель 2, 2024

Medical therapy of pericarditis should be targeted at its aetiology. Unfortunately, many cases remain idiopathic after a complete diagnostic workup. In such cases, empiric anti-inflammatory for is aimed controlling symptoms and preventing recurrences. The aim the present clinical review to summarize published evidence, guidelines, provide tips tricks management acute recurrent pericarditis.

Язык: Английский

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Genetic variants in patients with recurrent pericarditis

Journal of Cardiovascular Medicine, Год журнала: 2024, Номер 25(11), С. 799 - 804

Опубликована: Сен. 17, 2024

Aims Presence of family cases and multiple recurrences pericarditis suggest the existence a possible genetic background in at least 10% cases. The aim present study is to describe landscape cohort patients with (at two recurrences). Methods Retrospective consecutive adult referred for episodes tertiary referral centre. Genetic testing was performed by whole exome sequencing (WES). Results Our included 108 recurrent [median age 32 years, interquartile range (IQR) 18.5; 67.6% females, all Caucasian, idiopathic aetiology 71.1%] median number 5 (IQR 2). Overall, 16 (14.8%) had variants genes related inflammatory response. Eleven were located already associated ( NLRP3 , TNFRSF1A MEFV ) five inflammation/immunodeficiency-related IFIH1, NFKBIA, JAK1, NOD2 ALPK1 ). Furthermore, we identified 10 conduction system-related diseases, 22 21 heart structural-related diseases. Conclusion In this first observational using WES assess pericarditis, about 15% bore one variant that may be disease. These findings highlight importance addressing role predisposition pericarditis. Moreover, 28.7% carry different cardiac genes, worthy deeper investigation.

Язык: Английский

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Treatment options to break the cycle of recurrent pericarditis

Current Opinion in Cardiology, Год журнала: 2025, Номер 40(2), С. 107 - 114

Опубликована: Янв. 10, 2025

This review provides a contemporary, evidence-based update on the pathophysiological mechanisms and rapidly evolving therapeutic options for recurrent pericarditis. Recent studies have elucidated pathogenesis of pericarditis, identifying autoinflammation as key mechanism interleukin-1 (IL-1) central modulator inflammatory cascade. Multiple clinical trials investigated novel approaches, particularly focusing IL-1 inhibition. The recent FDA approval pathway blockade pericarditis has revolutionized treatment, offering patients significantly improved quality life symptom management. enhanced understanding autoinflammatory nature coupled with groundbreaking advances in targeted therapies, transformed treatment landscape affected patients. emergence inhibitors an effective option promises substantial improvements outcomes patient well being. Clinicians must familiarize themselves these new treatments, their efficacy, potential limitations to optimize care guide decision-making this challenging condition.

Язык: Английский

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IL-1 signaling enrichment in inflammatory skin disease loci with higher risk allele frequencies in African ancestry

Research Square (Research Square), Год журнала: 2025, Номер unknown

Опубликована: Янв. 23, 2025

Inflammatory skin diseases (ISDs) exhibit varying prevalence across different ancestry background and geographical regions. Genetic research for complex ISDs has predominantly centered on European Ancestry (EurA) populations genetic effects immune cell responses but generally failed to consider contributions from other types in skin. Here, we utilized 273 signals seven ISDs: acne, alopecia areata (AA), atopic dermatitis (AD), psoriasis, systemic lupus erythematosus (SLE), sclerosis (SSc), vitiligo, demonstrate enriched IL1 signaling keratinocytes, particularly with higher risk allele frequencies the African ancestry. Using a combination of ATAC-seq, Bru-seq, promoter capture Hi-C, revealed potential regulatory mechanisms acne locus chromosome 2q13. We further demonstrated differential keratinocytes upon IL1β stimulation, including pro-inflammatory mediators CCL5, IL36G, CXCL8. Taken together, our findings highlight epidermal as contributor ancestry-related differences ISDs. CAPSULE SUMMARY: ISD-associated loci IL-1 enrichment Multi-omics reveals at 2q13 acne.

Язык: Английский

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Current Drug Treatment for Acute and Recurrent Pericarditis

Drugs, Год журнала: 2025, Номер unknown

Опубликована: Март 22, 2025

Pericarditis is the most frequent pericardial disease and presents with a relatively benign course when treated according to guideline-directed therapies at first presentation. Recurrence complication may occur more frequently after episode, in patients autoimmune etiology, who received glucocorticoids, or rapid (i.e., within 1 month) tapering of anti-inflammatory drugs. The therapeutic armamentarium for pericarditis includes high-dose nonsteroidal drugs (NSAIDs) that are tapered rapidly once symptoms controlled. Colchicine necessary both relieve reduce rate recurrences continued least 3-6 months. Low- moderate-dose glucocorticoids reserved recurrence which NSAIDs colchicine failed and/or have an disorder, slow tapering. Interleukin-1 blockers-anakinra, rilonacept, goflikicept-are used as third-line option cannot come off second-line therapy contraindications those high-risk features multiple episodes, markedly elevated inflammatory markers, extensive abnormalities imaging) whom treatment unlikely succeed.

Язык: Английский

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Missense variants in FRS3 affect body mass index in populations of diverse ancestries

Nature Communications, Год журнала: 2025, Номер 16(1)

Опубликована: Март 25, 2025

Obesity is associated with adverse effects on health and quality of life. Improved understanding its underlying pathophysiology essential for developing counteractive measures. To search sequence variants large BMI, we perform a multi-ancestry meta-analysis 13 genome-wide association studies including data derived from 1,534,555 individuals European ancestry, 339,657 Asian 130,968 African ancestry. We identify an intergenic 262,760 base pair deletion at the MC4R locus that associates 4.11 kg/m2 higher BMI per allele, likely through downregulation MC4R. Moreover, rare FRS3 missense variant, p.Glu115Lys, only found in Finland, 1.09 lower allele. also detect three other low-frequency associate smaller are enriched different ancestries. characterize as BMI-associated gene, encoding adaptor protein known to act downstream BDNF TrkB, which regulate appetite, food intake, energy expenditure unknown signaling pathways. The work presented here contributes biological foundation obesity by providing convincing component BDNF-TrkB pathway, could potentially be targeted treatment. Understanding can help prevent this condition. Here, authors GWAS diverse ancestries, finding four affect BMI.

Язык: Английский

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Integration of QTL and comprehensive analysis in the circulating inflammatory cytokines for pan-cancer

BMC Cancer, Год журнала: 2024, Номер 24(1)

Опубликована: Авг. 13, 2024

Chemokines and cytokines are components of the tumor microenvironment also influence tumorigenesis its composition. However, whether they genetically proxy is unclear. For causal inferences, eQTL pQTL were used to determine role chemokines in pan-cancer. The impact on immune was explored. This study leveraged summary statistics from respective genome-wide association studies (GWAS) 109 18 types solid tumors. Single nucleotide polymorphisms (SNPs) robustly associated with chemokines, located or close their coding gene (cis), as instrumental variables. A two-sample MR design employed, followed by comprehensive sensitivity analyses validate robustness results. infiltration investigated using TIMER TISIDB websites. Survival analysis conducted K-M plotter 2.0 TISCH GEO databases carry out scRNA cell analysis.Analyzing relevant proteins STRING database conducting enrichment pathways for GO identified proteins. results inverse-variance weighted (IVW) method cis-protein QTL (cis-pQTL) instruments showed effects TNF reducing risk squamous lung cancer (LUSC) HGF head neck (HNSC).The consistent eQTL. better overall survival (OS) HNSC, regardless cells enriched. high expression ligand MET leads a decrease LUSC. related poor OS LUSC no significant impact. CD8 + T cell-enriched, eosinophil-enriched, macrophage-enriched, NK cell-deficient LUSC, prognosis, there statistical significance. positive correlation between most infiltration, immunomodulator chemokine positively correlated majority except CD56 cells, well some regulatory factors chemotactic factors. According single-cell sequencing results, mainly secreted fibroblasts myofibroblasts while it primarily macrophages secrete TNF. GO/KEGG suggests that involved regulating peptidyl-tyrosine phosphorylation regulation MAPK cascade. Proteins I-kappaB kinase/NF-kappaB signaling cytokine-mediated pathway. HNSC may have protective effect occurrence prognosis HNSC. These independent influence, this not necessarily be mediated through HGF/MET On other hand, like cell, it's different effect. only but affect composition microenvironment. define statistic genome wide tumor.

Язык: Английский

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Update on the diagnosis and treatment of pericardial diseases: a position paper of the Italian Society of Cardiology in collaboration with the study group on cardiomyopathies and pericardial diseases

Journal of Cardiovascular Medicine, Год журнала: 2024, Номер 26(1), С. 29 - 37

Опубликована: Ноя. 25, 2024

The knowledge of pericardial diseases has now improved, including prospective and retrospective cohort studies focusing on the pathogenesis, diagnosis, treatment, outcomes. complex interplay between genetic predisposition (especially for autoinflammatory conditions), inflammation, autoimmunity is known to trigger recurrences pericarditis. Moreover, diagnostic capabilities have improved with implementation multimodality imaging, particularly cardiac magnetic resonance (CMR), detect monitor allow diagnosis in more complicated cases, tailor duration therapy based objective parameters. A new class drugs, anti-IL-1 agents, been introduced patients an inflammatory phenotype presentation, not responding conventional anti-inflammatory therapies, NSAID, colchicine, corticosteroids. At present, clinical management definitely road evidence-based medicine ongoing European guidelines spectrum myocardial syndromes.

Язык: Английский

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Lessons From Genetics About the Interleukin 1 Gene and Treatment of Recurrent Pericarditis

JAMA Cardiology, Год журнала: 2023, Номер 9(2), С. 172 - 172

Опубликована: Дек. 27, 2023

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Язык: Английский

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