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Evaluating genes involved in the pharmacodynamics and pharmacokinetics of epilepsy drugs is critical to better understand pharmacoresistant epilepsy. We reviewed the pharmacogenetics literature on six antiseizure medicines (carbamazepine, perampanel, lamotrigine, levetiracetam, sodium valproate and zonisamide) and compared the genes found with those present on epilepsy gene panels using a functional annotation pathway analysis. Little overlap was found between the two gene lists; pharmacogenetic genes are mainly involved in detoxification processes, while epilepsy panel genes are involved in cell signaling and gene expression. Our work provides support for a specific pharmacoresistant epilepsy gene panel to assist antiseizure medicine selection, enabling personalized approaches to treatment. Future efforts will seek to include this panel in genomic analyses of pharmacoresistant patients, to determine clinical utility and patient treatment responses.Background Recent studies have shown that cleavage and polyadenylation-specific factor 3 (CPSF3) is a promising antitumor therapeutic target, but its potential role in hepatocellular carcinoma (HCC) has not been reported. Materials & methods We explored the expression pattern of CPSF3 in HCC through bioinformatics analysis, quantitative polymerase chain reaction (qPCR) and western blot. The potential role of CPSF3 as a biomarker for HCC was evaluated by Kaplan-Meier analysis. Next, changes in HCC cell lines in the CPSF3 knockdown model group and the control group were assessed by Cell Counting Kit-8, clonal formation, flow cytometry and EdU staining. Western blot detected changes in protein levels of the PI3K/Akt/GSK-3β axis of two HCC cell lines in the knockdown group and the control group. Results The results showed that the transcription and protein levels of CPSF3 were significantly higher in HCC tissues than in adjacent normal tissues (p less then 0.05). The HCC cohort with increased expression of CPSF3 is associated with advanced stage and differentiation and predicts poorer prognosis (p less then 0.05). CPSF3 knockdown significantly inhibited proliferation and clone formation of HepG2 and SMMC-7721 cell lines. Flow cytometry analysis showed G1-S cell cycle arrest in the CPSF3 knockdown group, and the results of EdU staining were consistent with this. Compared with the control group, p-Akt and cyclin D1 were decreased, and GSK-3β was increased in the knockdown group. Conclusion CPSF3 may be a potential diagnostic biomarker and candidate therapeutic target for HCC.Background As part of a Domestic Violence and Health care Partnership (DVHCP) project in California, 19 leadership teams consisting of representatives from domestic violence agencies and health care delivery systems in California came together to improve care related to intimate partner violence (IPV). We evaluated the impact of a Quality Assessment/Quality Improvement (QA/QI) tool on health care delivery systems' ability to collaborate with victim service agencies to address IPV. Methods Each leadership team completed the QA/QI tool every 6 months between 2014 and 2017. Fifteen clinics that completed the tool at least twice are included in this analysis. Results The largest changes noted in the QA/QI tool were having written protocols for assessing for IPV, providers distributing educational safety cards about IPV to patients, scripts for providers on how to assess and support survivors of IPV, trainings led by IPV agency advocates, and support for staff to discuss difficult cases. Conclusions Implementation of a QA/QI tool can guide health care delivery systems to make changes in provider practices and clinic protocols to improve care and support for survivors of IPV. Such clinic-level changes may support providers to more readily or consistently integrate addressing IPV in clinical encounters while facilitating and promoting cross-sector collaborations with victim service advocacy and related social service agencies.Aim The present study observed the relationship between the methylenetetrahydrofolate reductase genotypes and clinical outcome in children with sickle cell disorder. Methodology A total of 249 children were recruited for the study and evaluated clinically for calculating severity score, homocysteine levels and C677T and A1298C genotyping. Results The frequencies of variant genotypes were 28.1% CT/TT677 and 69.1% AC/CC1298. Plasma homocysteine was significantly elevated in variant groups (p less then 0.001). Both the genotypes accorded significant association with homocysteinemia (p less then 0.001). Vascular crisis (p = 0.04), frequency of hospitalization (p less then 0.001) and severity score (p = 0.02) revealed association with C677T and not with A1298C. The CT/TT677 genotypes showed 3.39-times (p = 0.032) increase in a higher score for severity. Conclusion C677T depicted significant association with clinical severity in study population.Aim Obstructive sleep apnea (OSA) activates the complement system; however, the levels of membrane attack complex (MAC) are unaltered suggesting regulatory mechanisms. https://www.selleckchem.com/products/vt103.html Our aim was to investigate complement factor H (CFH) and clusterin, two important complement regulators in OSA. Materials & methods We analyzed clusterin and CFH levels in plasma of 86 patients with OSA and 33 control subjects. Results There was no difference in CFH levels between patients (1099.4/784.6-1570.5/μg/ml) and controls (1051.4/652.0-1615.1/μg/ml, p = 0.72). Clusterin levels were higher in patients with OSA (309.7/217.2-763.2/μg/ml vs 276.1/131.0-424.3/μg/ml, p = 0.048) with a trend for a positive correlation with disease severity (p = 0.073). Conclusion Increase in clusterin levels may be protective in OSA by blocking the MAC formation.Aim We aimed to identify novel exosomal circular RNAs for hepatocellular carcinoma (HCC) diagnosis. Materials & methods Exosomes were extracted and characterized. The expression level of exosomal circRNAs were verified via quantitative real-time PCR. The diagnostic value of candidate circRNAs was evaluated according to the receiver operating characteristic curve analysis. Results The exosomal circ_0070396 significantly elevated in HCC patients than other control groups and it performed better in distinguishing HCC patients from healthy donors than that of α-fetoprotein. Combination of two above markers exerted greater diagnostic performance. Exosomal circ_0070396 could discriminate HCC individuals from patients with chronic hepatitis B and liver cirrhosis. Intriguingly, exosomal circ_0070396 was positively correlated with HCC progression. Conclusion Exosomal circ_0070396 may be a potential biomarker for HCC detection and management.
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