Polskie Archiwum Medycyny Wewnetrznej-Polish Archives of Internal Medicine最新文献

Introduction: Erectile dysfunction (ED) is common in men after myocardial infarction (MI) and is associated with poorer quality of life and systemic vascular disease. Previous studies have primarily relied on questionnaires, rarely including objective assessment of penile hemodynamics.

Objectives: To assess the quality of life in men with ED after MI treated with percutaneous coronary intervention (PCI) including routine assessment of penile hemodynamics using point-of-care resting Doppler ultrasonography.

Patients and methods: This observational, cross-sectional, single-center study included 600 men: 400 after MI treated with PCI and 200 without MI/PCI (controls). ED was assessed using the IIEF-5 questionnaire, and quality of life was assessed using the SF-36. Echocardiography, carotid Doppler ultrasound, and resting penile Doppler ultrasound were performed. Associations were analyzed using Spearman correlation and multivariate linear regression.

Results: All patients after MI had ED. Quality of life was significantly lower than in controls globally (SF-36: 121.3 (8.9) vs. 134.6 (7.5); P <0.001) and in the physical and mental components. Penile Doppler parameters differed between groups and correlated with IIEF-5. In multivariate analysis, the strongest predictor of quality of life was erectile function (IIEF-5), followed by LVEF, BMI, heart rate, and vascular parameters (IMT, carotid and penile flow).

Conclusions: ED severity is a major independent determinant of quality of life in men after MI/PCI. Penile hemodynamic parameters reflect systemic vascular burden and functional status. Integrated ED assessment, including IIEF-5 and routine resting penile Doppler ultrasound, can support risk stratification and post-MI care.

Venous thromboembolism (VTE) is a disorder due to the interaction between genetic, individually acquired and environmental factors. The aim of this narrative review is to summarize advances in genetic susceptibility to first and recurrent VTE, focusing on GWAS-derived polygenic risk scores and sequencing-based approaches, and to discuss current barriers to clinical implementation. Testing for the classical inherited thrombophilias, such as the deficiencies of natural anticoagulants antithrombin, protein C and S and the Factor V Leiden variant and the G20210A of Factor II could improve risk stratification and therapeutic decisions in VTE, although their role in VTE management remains controversial. The knowledge regarding genetic susceptibility for VTE progressed in the last two decades, beyond the classical thrombophilias, thanks to the evolution from single-gene Sanger sequencing to genome wide sequencing (GWAS) and next generation sequencing. GWAS has allowed to construct polygenic risk scores (PRS) combining the effects of multiple single-nucleotide polymorphisms. PRS could significantly improve VTE risk prediction beyond clinical factors. The integration of genetic and clinical data could improve predictive accuracy. In addition, combining GWAS with transcriptome-wide association studies and Mendelian randomization has shown that genetic risk may change across different clinical presentations of VTE and that recurrent VTE differs genetically and biologically from the initial VTE event, being associated with variants such as those of kininogen 1 and fibrinogen. PRS can stratify VTE risk beyond traditional factors in European-ancestry cohorts; recurrence may have a partially distinct genetic / proteomic architecture, but prospective clinical utility remains to be established and integrating this advanced knowledge into clinical practice remains a future challenge in VTE management.

Introduction:  SAPHO syndrome is a rare autoimmune/autoinflammatory disorder with no approved therapies or standardized management guidelines. Biologic and targeted synthetic DMARDs (b/tsDMARDs) are increasingly used off-label.

Objectives:  This review systematically evaluates the evidence for their efficacy in SAPHO.

Patients and methods:  A PRISMA-guided search of PubMed was conducted through March 31, 2025. Studies of any design reporting outcomes of b/tsDMARDs in patients with SAPHO fulfilling the modified Kahn criteria were included. Exclusion criteria were non-English language, inaccessible full text, and insufficient treatment details. Data on patient characteristics, drug class, follow-up duration, and treatment response were extracted. Because all included studies were case reports or case series, the risk of bias was not assessed. Treatment responses were summarized using descriptive statistics.

Results:  Of 1,610 screened records, 106 studies comprising 385 instances of b/tsDMARD use met the inclusion criteria; no randomized controlled trials were identified. TNF inhibitors were used in 203 patients, with complete skeletal and skin responses in 81% and 72%, respectively. JAK inhibitors (77 patients) were associated with reported complete response rates of 89% (skeletal) and 94% (skin). Other b/tsDMARD classes-including IL-17, IL-23, IL-1, and IL-6 inhibitors, as well as PDE4 inhibitors-demonstrated variable and generally lower efficacy.

Conclusions:  Evidence for b/tsDMARDs in SAPHO remains limited to low-quality, uncontrolled studies with substantial heterogeneity and probable publication bias. TNF and JAK inhibitors are among the most consistently effective therapies reported in the available literature, but high-quality research, including randomized trials or prospective registries, is urgently needed to inform evidence-based management.