Association among VKORC1 rs9923231, CYP4F2 rs2108622, GGCX rs11676382 polymorphisms and acute ischemic stroke.

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.

Apathy and Anhedonia: Clinical and Neurophysiological Assessment of a Romanian Cohort.

BACKGROUND: Patients with Parkinson's disease (PD) often have, besides the characteristic motor manifestations, a wide variety of non-motor symptoms. These include apathy and anhedonia, common issues in PD, which can be quantified with the help of evaluation scales recommended by the literature. There are sensory non-motor manifestations of PD, some of which are easy to detect through electrophysiological studies. Our aim was to investigate the possible association of apathy and anhedonia with the severity of the motor status in a sample of PD patients in Romania. We also examined the prevalence of latency changes in the P100 wave of visual evoked potentials (VEPs) and how they correlated with motor status, apathy, and anhedonia in PD patients. METHODS: Thirty-four patients with PD participated in this study. All were assessed for motor status using the Unified Parkinson's Disease Rating Scale (UPDRS) and were rated on the Hoehn and Yahr scales. The presence and severity of apathy and anhedonia were assessed using the Apathy Evaluation Scale (AES), the Dimensional Apathy Scale (DAS), the Lille Apathy Rating Scale (LARS), and the Snaith-Hamilton Pleasure Scale (SHAPS). The latency of the P100 wave of the VEP was measured in all the patients. RESULTS: Apathy and anhedonia were common among the patients with PD (35% and 58.8%, respectively). The presence of apathy/anhedonia was correlated with the severity of motor symptoms, as assessed using the UPDRS scale (p < 0.001), and with the stage of the disease according to the Hoehn and Yahr scale (p < 0.001). A prolonged latency of the P100 wave of the VEP was observed among apathetic (p < 0.001)/anhedonic (p < 0.01) patients and those with increased disease severity (p < 0.001). CONCLUSION: Apathy and anhedonia are common in PD and may correlate with the severity of motor symptoms. There may be visual impairment in these patients, evidenced by a prolonged P100 latency, which correlates with the severity of disease. SIGNIFICANCE: Scales for assessing apathy and anhedonia, as well as measuring VEP latency, could be useful in assessing the severity of disease.