Objectives. To investigate the association of the polymorphisms in SPARC and NLRP2 with rheumatoid arthritis (RA) in a Chinese Han population. Methods. Four single nucleotide polymorphisms (SNPs) covering SPARC and three SNPs covering NLRP2 were investigated in 624 Chinese Han RA patients and 1920 healthy controls. Results. The A allele at SPARC rs3210714, SPARC rs11950384, NLRP2 rs2217659, and NLRP2 rs703468 were linked to reduced risk of RA (p = 0.0016, p = 0.0051, p < 0.0001, and p = 0.0033, respectively). Under the recessive model, the A/A genotype of rs3210714, rs11950384, rs2217659, and rs703468 were relevant with RA (p = 0.0071, p = 0.017, p < 0.0001 and p = 0.0066, respectively). Haplotype analysis identified the SPARC GGCG haplotype, AAAA haplotype were associated with the risk for RA (p < 0.0001 and p = 0.0015, respectively), while the risk of RA was lower for carriers of the GAAA haplotype (p < 0.0001), AACG haplotype (p < 0.0001), and the AGCG haplotype (p < 0.0001). The NLRP2 GG haplotype was a risk factor (p < 0.0001), while the GA haplotype and the AG haplotype were associated with lower risk of RA (p < 0.0001 and p = 0.0017, respectively). There was no significant difference between the RA patients and the controls in polymorphisms of rs7719521, rs1978707, and rs269913. Conclusion. This study indicates that polymorphisms in SPARC and NLRP2 are related to RA susceptibility in a Chinese Han population.

Acquired von Willebrand syndrome (AVWS) is caused by an acquired deficiency of von Willebrand factor (VWF), a multimeric protein required for primary hemostasis. For patients with heart valve diseases, high gradient across the malfunctioning valves could cause elevated shear stress and damage the most effective large VWF, eventually resulting in AVWS. However, AVWS has not been reported in association with normally functioning mechanical valves. Herein, we reported a 74-year-old female who suffered from recurrent gastrointestinal bleeding with a history of mechanical aortic and mitral valve replacement. This patient’s function/antigen ratio of VWF was decreased and gel electrophoresis revealed the loss of large VWF, which confirmed the diagnosis of AVWS. Echocardiogram showed that the function of the prostheses was normal. However, the gradient across aortic valve was increased due to a high cardiac state which is secondary to chronic anemia, resulting in the disruption of large VWF multimers and exacerbation of gastrointestinal (GI) bleeding. After managing the patient’s anemia with transfusion, the gradient across the aortic valve had improved, with the resolution of GI bleeding. This is the first case report of AVWS that is associated with a normally functioning mechanical valve. AVWS should be considered one of the differential diagnoses if patients present with unexplained GI bleeding on the background of having prosthetic heart valves. The management of the underlying condition is essential.

Recurrent pericarditis (RP) remains challenging, especially in tuberculosis (TB)-endemic regions where empirical anti-TB therapy is often unnecessarily prolonged. We report a 35-year-old woman with three RP episodes over six months, presenting with pleuritic chest pain, elevated inflammatory markers, and moderate-to-large pericardial effusion. Extensive infectious (including TB), autoimmune, and malignancy workups were negative. Cardiac magnetic resonance revealed persistent pericardial late gadolinium enhancement despite clinical remission. Whole-exome sequencing identified a heterozygous MEFV c.442G>C (p.Glu148Gln) variant, suggesting an autoinflammatory predisposition. Although the patient finally achieved sustained symptom-free status for six months on a standardized low-dose colchicine regimen, still over 10% of patients have recurrent symptoms receiving colchicine in addition to conventional anti-inflammatory therapy with aspirin or ibuprofen. This case highlights the shifting paradigm from an infection-centered to an autoinflammatory framework for RP in TB-endemic countries, underscores the role of MEFV variants in idiopathic recurrent pericarditis, and illustrates the real-world gap between genetic insights and therapeutic accessibility to IL-1 inhibitors in resource-limited settings.

Background: It was presumed that enoxaparin 0.5 mg/kg, the guideline-recommended anticoagulant regimen for percutaneous coronary intervention (PCI), could achieve target anticoagulation for 90 min, which, however, was based on the results of pharmacokinetic simulation. This study aimed to directly assess the trough anticoagulant levels (anti-Xa activities at 90 min after administration) of enoxaparin 0.75 mg/kg versus 0.5 mg/kg in patients undergoing trans-radial coronary angiography (CAG) alone. Methods: Before CAG, eligible patients were randomly assigned to receive enoxaparin 0.75 mg/kg (High-dose group) or 0.5 mg/kg (Standard-dose group). After CAG, patients undergoing both CAG and PCI were excluded from each group according to the study protocol. Anti-Xa activities were assessed at 0 min, 10 min, and 90 min after enoxaparin was administered. The primary endpoint was anti-Xa activity at 90 min. Target anticoagulation was defined as anti-Xa activities of 0.5-1.8 IU/ml. Results: A total of 177 patients underwent randomization, 96 of which underwent CAG alone (48 in each group). The baseline characteristics were well balanced between the two groups. In the High-dose compared to the Standard-dose group, (1) the anti-Xa activities were higher at both 90 min (0.80 [0.68, 0.90] IU/ml vs. 0.57 [0.49, 0.69] IU/ml, p < 0.001) and 10 min (1.37 [1.16, 1.50] IU/ml vs. 0.94 [0.83, 1.13] IU/ml, p < 0.001); (2) the rates of target anticoagulation were higher at 90 min (100.0% [38/38] vs. 72.7% [32/44], p < 0.001), although similar at 10 min (100.0% [41/41] vs. 97.9% [46/47], p = 1.000). Conclusions: Enoxaparin 0.75 mg/kg achieved higher anticoagulant levels and higher rates of target anticoagulation at 90 min after administration in patients undergoing trans-radial CAG alone compared to enoxaparin 0.5 mg/kg. Trial registration: This trial was registered on ClinicalTrials.gov (NCT03145675) on May 21, 2017.

Background: Amyloid light-chain (AL) amyloidosis is a multisystem disorder, with cardiac amyloid infiltration being a prevalent manifestation. This study aimed to explore the prognostic value of galectin-3 (Gal-3), a soluble marker associated with fibrosis, inflammation, heart failure, and kidney injury, in patients with cardiac AL amyloidosis. Methods: A total of 60 patients who were diagnosed with cardiac AL amyloidosis from January 2015 to May 2018 were enrolled. The prognostic value of Gal-3 was assessed. Receiver operating characteristic (ROC) curves were used to evaluate the predictive accuracy of Gal-3. A Gal-3 cut-off value was identified to predict survival rates. Results: The ROC curves demonstrated a moderate predictive accuracy of Gal-3 for 0.5- and 5-year survival, with area under the curve (AUC) values of 0.722 and 0.788, respectively. A Gal-3 cut-off value of 15.154 ng/mL was found to predict survival. Kaplan–Meier survival analysis revealed a significant difference in mean overall survival between patients with Gal-3 levels below and above the established cut-off (69.2 months versus 42.1 months, respectively; p = 0.036). Multivariate analysis confirmed that Gal-3 > 15.154 ng/mL remained an independent predictor of survival (HR 2.451, 95% CI 1.017–5.910, p = 0.046). Conclusions: This study suggests that Gal-3 holds independent prognostic value for survival in patients with cardiac AL amyloidosis. Gal-3 could potentially enhance the prognostic capabilities of the current soluble markers, thereby improving the management of cardiac AL amyloidosis. However, further validation in larger prospective studies is warranted.