ベーチェット病

OBJECTIVES: Medication adherence is a key determinant of treatment effectiveness in chronic inflammatory diseases but data in Behçet's syndrome (BS) remain limited. This study evaluated medication adherence in a real-world cohort of patients with BS and explored demographic and clinical factors associated with reduced adherence. METHODS: We conducted a monocentric cross-sectional study including 125 patients with BS followed at a tertiary referral centre. Adherence was assessed using the validated 8-item Morisky Medication Adherence Scale (MMAS-8). Patients were classified as having high (score=8), intermediate (score 6-<8) or low adherence (score<6). Disease activity was evaluated using the Behçet's Disease Current Activity Form and the Behçet's Disease Activity Index. Associations between adherence and clinical variables were analysed using Spearman correlation and non-parametric tests. RESULTS: The mean MMAS-8 Score was 6.82±1.32. High adherence was observed in 29.6% of patients, intermediate adherence in 48.8% and low adherence in 21.6%. Lower adherence was more frequent among patients in the lower age quartiles. No significant associations were observed between adherence and sex, disease duration, disease activity indices or treatment class. CONCLUSION: Medication adherence in BS appeared generally satisfactory, although a relevant proportion of patients reported suboptimal adherence. These findings confirm, in a BS-specific real-world setting, previously reported associations between age and medication adherence observed in chronic diseases. Routine adherence assessment may help identify patients at higher risk of poor treatment compliance and support personalised management strategies.

OBJECTIVE: Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain-enriched β-synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum. METHODS: In a tertiary-center cohort (n = 306), CSF β-synuclein was measured. Cognitively unimpaired (CU), AD-MCI, AD dementia (ADD), and non-AD (FTD, PD, DLB, others) groups were included. ANCOVA compared groups (age/sex adjusted); ROC assessed diagnostic performance. Multivariable regression examined 2-year MMSE decline associations. Voxel-wise interaction models evaluated β-synuclein-gray matter volume (GMV) relationships. RESULTS: CSF β-synuclein differed across groups (p < 0.001), with highest levels observed in AD-MCI and lower levels in ADD. AD-MCI levels exceeded CU/ADD. AD-MCI versus CU AUC was 0.874. Baseline β-synuclein predicted greater MMSE decline in AD-MCI (β = 0.72, p < 0.001) and ADD (β = 0.47, p = 0.017). Voxel-wise analyses revealed stage-dependent β-synuclein-GMV reversals in precentral and temporoparietal regions. CONCLUSION: CSF β-synuclein shows a stage-dependent pattern across the AD continuum, predicts cognitive decline, and dynamic structural coupling. It supports β-synuclein as a relevant synaptic biomarker in AD.

BACKGROUND: Recurrent aphthous stomatitis (RAS) is a chronic autoinflammatory condition marked by recurring, painful sores in the mouth. It is often confused with Behcet's disease (BD), a rare systemic vasculitis that also presents with oral ulcers. Despite overlapping symptoms, BD has broader systemic implications, making an accurate diagnosis critical. This study aims to identify unique serum proteins that could reliably distinguish idiopathic RAS from BD. METHODS: We reanalyzed our previous mass spectrometry dataset comprising blood samples from 12 BD patients, 12 individuals with idiopathic RAS, and 21 healthy controls. Differentially expressed proteins (DEPs) related to RAS were identified and examined through Kyoto Encyclopedia of Genes and Genomes and Gene Ontology pathway enrichment. A protein-protein interaction (PPI) network was created to explore functional connections among the DEPs. Validation of three RAS-related proteins was carried out using enzyme-linked immunosorbent assay (ELISA) in a separate cohort of 26 RAS patients, 26 BD patients, and 30 healthy individuals. Their diagnostic utility was then evaluated via receiver operating characteristic (ROC) curve analysis. RESULTS: A total of 99 proteins showed differential expression in RAS samples but not in BD cases when compared to healthy controls-85 were upregulated, and 14 were downregulated. Enrichment analyses indicated these proteins are primarily involved in metabolic and infection-related pathways, particularly influencing keratinocyte differentiation and oxidative stress responses. PPI network analysis highlighted key metabolic and keratinocyte-related proteins as central hubs, suggesting a role in RAS pathology. ELISA validation confirmed significantly elevated levels of ANXA2, ENO1, and S100A7 in RAS patients compared to both BD patients and healthy subjects. CONCLUSION: Our findings identify a set of RAS-related serum proteins with potential diagnostic value. These serum proteins may enhance the clinical differentiation of RAS from BD, aiding in more accurate and timely patient care.

BACKGROUND Aorto-aortic extra-anatomical bypass is a specialized surgical intervention primarily used to manage complex vascular complications, including stent graft infections after endovascular aortic repair. Stent graft infection is a rare but severe complication associated with high morbidity and mortality, which requires prompt treatment to prevent life-threatening sequelae such as pseudoaneurysm formation, aortic rupture, or fistula formation. CASE REPORT We describe 2 young male patients who developed infected thoracic aortic stent grafts after aortic arch debranching and endovascular repair. The first patient, a 37-year-old man with a history of traumatic aortic isthmus transection managed via tube interposition grafting 10 years earlier, presented with a proximal anastomotic pseudoaneurysm; he subsequently underwent arch debranching and endovascular stent grafting. He was later readmitted with systemic infection and mediastinal hematomas indicative of graft infection. The second patient, a 34-year-old man with Behçet disease and an aortic arch aneurysm, presented with an infected mediastinal hematoma involving the aortic stent graft after arch debranching and stent grafting. Both patients underwent stent graft explantation and extra-anatomical ascending-to-descending aorto-aortic bypass under peripheral cardiopulmonary bypass with deep hypothermic circulatory arrest. Both patients survived the complex aortic procedure and remained clinically stable at 38 and 17 months of follow-up (after the most recent procedure), respectively. One patient required additional wound management for a surgical site infection; the other underwent delayed repair of an ascending aortic pseudoaneurysm. CONCLUSIONS This case series demonstrates the feasibility of aorto-aortic extra-anatomical bypass as a potentially life-saving intervention for aortic endograft infection when perioperative management is optimized.

OBJECTIVES: Behçet's disease (BD) is a multisystem inflammatory disorder with diverse phenotypes and incompletely defined immune mechanisms. This study aimed to map immune dysregulation in BD at high resolution, comparing active vs remission states and identifying pathways linked to clinical phenotypes. METHODS: We performed single-cell RNA sequencing on 247,028 peripheral blood mononuclear cells from 34 patients with BD and 12 healthy controls. Transcriptomic profiling, differential gene expression, pathway enrichment analyses, and phenotype-stratified comparisons were used to delineate immune cell alterations associated with disease activity and clinical subtypes. RESULTS: All 3 monocyte subsets were markedly expanded in BD and demonstrated dominant interferon (IFN)-γ-associated activation, robust heat-shock responses, and enhanced antigen-presentation programmes. In active disease, monocytes exhibited pronounced type II IFN signatures, which reversed in remission alongside restoration of regulatory and metabolic pathways. Remission was instead characterised by increased expression of type I IFN-regulated genes and activation of serine protease inhibitor (SERPIN)-associated programmes linked to tissue stabilisation. Clinical phenotype stratification revealed distinct transcriptional signatures in peripheral blood monocytes, including enrichment of heat-shock and stress-response pathways in monocytes from patients with vascular BD and tumour necrosis factor/NF-κB-associated programmes in monocytes from patients with ocular BD. Patients without organ involvement demonstrated an increased type I IFN gene signature. CONCLUSIONS: This study provides a high-resolution immune atlas of BD, identifying monocyte-driven dysregulation as a central feature. Our findings map the immune heterogeneity of BD, identify activity- and phenotype-linked peripheral blood monocyte states, and suggest immune pathways suitable for targeted intervention.