Acute ischemic stroke is a major cause of morbidity and mortality worldwide, and genetic factors play a role in the risk of stroke. Single nucleotide polymorphisms (SNPs) in the VKORC1, CYP4F2, and GGCX genes have been linked to clinical outcomes, such as bleeding and cardiovascular diseases. This study aimed to investigate the association between specific polymorphisms in these genes and the risk of developing the first episode of acute ischemic stroke in patients without a known embolic source. This retrospective, cross-sectional, observational, analytical, case-control study included adult patients diagnosed with acute ischemic stroke. The SNPs in VKORC1 rs9923231, CYP4F2 rs2108622, GGCX rs11676382 genes were genotyped and analyzed together with the demographic and clinical factors of the 2 groups of patients. The presence of SNPs in VKORC1 or CYP4F2 genes significantly increased the risk of ischemic stroke in the context of smoking, arterial hypertension, and carotid plaque burden. The multivariate logistic model revealed that smoking (odds ratio [OR] = 3.920; P < .001), the presence of carotid plaques (OR = 2.661; P < .001) and low-density lipoprotein cholesterol values >77 mg/dL (OR = 2.574; P < .001) were independently associated with stroke. Polymorphisms in the VKORC1 and CYP4F2 genes may increase the risk of ischemic stroke in patients without a determined embolic source. Smoking, the presence of carotid plaques, and high low-density lipoprotein cholesterol levels were reconfirmed as important factors associated with ischemic stroke.
Background and Objectives: The aim of this study was to evaluate the potential predictive value of VKORC1, CYP4F2, and GGCX polymorphisms, as well as other clinical and demographic factors, for 5-year mortality in patients with acute ischemic stroke (AIS). Materials and Methods: The study enrolled 252 patients who were consecutively hospitalized for AIS. Demographic data, comorbidities, and laboratory tests were collected. Genotyping of the VKORC1 rs9923231 (-1639G > A; VKORC1*2), CYP4F2 rs2108622 (1347C > T), and GGCX rs11676382 (12970C > G) polymorphisms was performed. Mortality was noted if it occurred within five years following the 30 days after discharge, using the National Health Insurance House registry. Results: Death was recorded in 71 (28.1%) patients. In multivariate analysis the following variables were independent variables associated with 5-year mortality: age > 72 years (OR 2.83 (95%CI 1.32; 6.08), p = 0.007), a lesion volume > 12.6 mL (OR 4.05 (95%CI 2.05; 7.99), p < 0.001), and an NIHSS score > 7 (OR—2.64 (95%CI 1.31; 5.31), p = 0.006). VKORC1 (-1639G > A) SNP m/m variant was only marginally associated with mortality. Conclusions: In this study which included AIS patients, VKORC1, CYP4F2, and GGCX polymorphisms did not independently predict mortality. The VKORC1 variant was only marginally associated with mortality, but this was attenuated after correction for multiple testing. Advanced age, NIHSS score, and the lesion volume were independent predictors of long-term mortality in AIS patients.
Background/Objectives: Carpal tunnel syndrome (CTS) is the most common peripheral neuropathy, often impairing daily function and quality of life. This study aimed to translate, cross-culturally adapt, and assess the validity of the Boston Carpal Tunnel Questionnaire (BCTQ) in a Romanian cohort. Methods: We conducted a cross-sectional study to translate, culturally adapt, and validate the Romanian version of the BCTQ. A total of 190 participants were recruited, representing 380 wrists, including 130 patients with suspected or confirmed CTS and 60 healthy controls. The adaptation process followed international standards, with forward and backward translation, expert committee review, and pilot testing. Participants completed the Romanian BCTQ and performed standardized nerve conduction studies. The internal consistency and validity, including convergent and discriminant validity, exploratory factor analysis, and test–retest assessments, were performed. Results: The Romanian BCTQ exhibited exceptional internal consistency (Cronbach’s α = 0.96), significant inter-item correlations, and robust factor loadings confirming a one-factor structure. Convergent validity was evidenced by strong correlations with electrodiagnostic measurements. The test–retest reliability was high, with intraclass correlation coefficients above 0,99. Conclusions: The Romanian adaptation of the BCTQ is a valid, reliable, and culturally appropriate patient-reported instrument to assess symptom severity and functional status in CTS, improving clinical decision-making and cross-cultural research.