杜鹏强

阜外华中心血管病医院 药剂科

Gene detection in a family with monilethrix and treatment with 5% topical minoxidil.

OBJECTIVE:To determine the causative gene mutation in a family with monilethrix and observe the therapeutic effect of 5% topical minoxidil.METHOD:Clinical data from a family with monilethrix were collected. Peripheral blood samples were taken from the proband, the parents, and 100 unrelated healthy controls. Genomic DNA was extracted. The genetic variation sites were screened with exome sequencing and verified by Sanger sequencing. The proband was treated with 5% topical minoxidil (1 mL twice daily). Hair quality was examined by dermoscopy before and after treatment.RESULTS:The proband and her father have the heterozygous missense variant c.1204G > A (p.E402K) in exon 7 of the KRT86 gene. However, the mutation was not found in the mother and healthy controls. The proband was treated with 5% topical minoxidil. Hair density and hair shaft quality improved significantly after 6 months of treatment. No adverse events occurred during treatment.CONCLUSION:This study shows that p.E402K is a mutation "hot spot" in patients with autosomal dominant monilethrix in China. Treatment with 5% topical minoxidil, is safe and effective.

2.2
4区

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) 2023

Association of Alcohol Drinking and Helicobacter pylori Infection : A Meta-analysis.

BACKGROUND:The association between drinking and Helicobacter pylori infection was not clear in the literature. Owing to mixed and inconclusive results, a meta-analysis was conducted to summarize and clarify this association systematically.METHODS:Based on a comprehensive search of PubMed, Embase, and Web of Science databases, studies investigating the association between drinking and H. pylori infection were retrieved. We evaluated the strength of this relationship using odds ratios (ORs) with 95% confidence intervals. Sensitivity analysis was also conducted.RESULTS:A total of 24 individual studies were included in this meta-analysis. The risk of H. pylori infection was significantly lower in alcohol drinkers than nondrinkers (OR=0.83). People who drink wine (OR=0.90) or mixed types of alcoholic beverages (OR=0.78) had a lower risk of infection compared with those who drink beer. Among people aged 40 years or older, alcohol drinkers had a lower risk of H. pylori infection than nondrinkers (OR=0.68). Among people less than 40 years of age, alcohol drinking was not associated with H. pylori infection risk. Data showed that women were at a lower risk of H. pylori infection than men (OR=0.86).CONCLUSIONS:This meta-analysis suggests that the risk of H. pylori infection among alcohol drinkers is lower than that of nondrinkers. Drinking wine and mixed types of alcohol are better at reducing H. pylori infection than drinking beer. Nonetheless, we discourage reducing H. pylori infection through drinking, which increases the risk of other diseases.

2.9
4区
第一作者

Journal of clinical gastroenterology 2023

LncRNA TTTY15 knockdown alleviates H2O2-stimulated myocardial cell injury by regulating the miR-98-5p/CRP pathway.

Acute myocardial infarction (AMI) can lead to myocardial injury, and long non-coding RNA (lncRNA) has been found to play an important regulatory role in the process of myocardial injury. However, the role and potential mechanisms of lncRNA testis-specific transcript Y-linked 15 (TTTY15) in AMI-induced myocardial injury has not been fully elucidated. Hydrogen peroxide (H2O2)-induced AMI cell model was built and AMI mice model were constructed. Relative expression levels of TTTY15, miR-98-5p and C-reactive protein (CRP) were determined by quantitative real-time PCR (qRT-PCR). Cell counting kit 8 (CCK8) assay, flow cytometry and enzyme-linked immunosorbent assay (ELISA) were employed to assess cell viability, apoptosis, inflammatory response and oxidative stress. Western blot (WB) analysis was used to assess the protein expression levels. The mechanism of TTTY15 was confirmed by dual-luciferase reporter assay and RNA immunoprecipitation (RIP) assay. Our results revealed that TTTY15 was upregulated and miR-98-5p was downregulated in AMI patients and H2O2-stimulated myocardial cells. Knockdown of TTTY15 could alleviate H2O2-stimulated myocardial cell injury in vitro and AMI progression in vivo. Bioinformatics analysis and the rescue experiments confirmed that TTTY15 positively regulated H2O2-induced myocardial cell injury via regulating CRP by sponging miR-98-5p. Our research proposed that lncRNA TTTY15 promoted myocardial cell injury by regulating the miR-98-5p/CRP axis, suggesting that TTTY15 might be a potential target for alleviating AMI-caused myocardial cell injury.

4.3
2区

Molecular and cellular biochemistry 2021

A Systematic Review and Meta-Analysis of Risk Factors Associated with Severity and Death in COVID-19 Patients.

This meta-analysis aims to screen the risk factors for severe illness and death and provide help for early clinical treatment of the new coronavirus (COVID-19). Based on a comprehensive search of PubMed, Embase, and Web of Science databases, we included studies that explored the cause and risk factors for severe illness and death in COVID-19 patients. We evaluated the strength of this relationship using odds ratios (ORs) with 95% confidence intervals (CIs). A total of 17 articles were included; 16 of the 17 articles were from China, and the risk factors associated with severe illness and death were age, sex, and multiple comorbidities. Advanced age (≥65 years, severe illness, OR = 2.62; death, OR = 6.00), male (severe illness, OR = 1.49; death, OR = 1.54), chronic respiratory diseases (severe illness, OR = 5.67; death, OR = 3.72), diabetes (severe illness, OR = 3.27; death, OR = 2.60), hypertension (severe illness, OR = 3.08; death, OR = 3.53), chronic kidney disease (severe illness, OR = 3.59; death, OR = 5.38), and cardiovascular diseases (severe illness, OR = 3.87; death, OR = 4.91) were all risk factors. For COVID-19 patients, advanced age, male, and patients with chronic disease are at higher risk of developing severe illness or even death.

2.8
4区
第一作者

The Canadian journal of infectious diseases & medical microbiology = Journal canadien des maladies infectieuses et de la microbiologie medicale 2021

Impact of SLCO4C1 Genotypes, Creatinine, and Spironolactone on Digoxin Population Pharmacokinetic Variables in Patients With Cardiac Insufficiency.

3.2
4区
第一作者

Clinical therapeutics 2021

Corrigendum to "Impact of SLCO4C1 Genotypes, Creatinine, and Spironolactone on Digoxin Population Pharmacokinetic Variables in Patients With Cardiac Insufficiency" [Clin Therapeut 42(9) 1799-1810].

3.2
4区
第一作者

Clinical therapeutics 2021

Impact of SLCO4C1 Genotypes, Creatinine, and Spironolactone on Digoxin Population Pharmacokinetic Variables in Patients With Cardiac Insufficiency.

PURPOSE:This study aimed to utilize a population pharmacokinetic method to obtain information about the influence of covariates on the in vivo behavior of digoxin in patients with cardiac insufficiency.METHODS:A total of 228 therapeutic drug monitoring concentrations were retrospectively collected from 176 inpatients. The patients were randomly divided into a modeling group (n = 126) and a validation group (n = 50). The first-order absorption one-compartment model was used to develop a population pharmacokinetic model from a nonlinear mixed effects modeling approach. Sixteen single nucleotide polymorphisms involved in the pharmacokinetic variables of digoxin were identified by using the MassARRAY system. Various demographic parameters, biochemical test values, concomitant medications, and genetic variants were investigated.FINDINGS:The typical population value of digoxin CL/F was 5.06 L/h, and the volume of distribution was 211.82 L. The drug CL/F was significantly related to serum creatinine, in a combination of spironolactone and SLCO4C1 genotypes of 2 variants (rs3114660 and rs3114661). Results of model evaluation and internal/external validation indicated a stable and precise performance of the final model.IMPLICATIONS:For the first time, 2 single nucleotide polymorphisms (rs3114660 and rs3114661) in SLCO4C1 were found to significantly affect the elimination of digoxin in vivo. The final population model may be useful for the individualized dosing of digoxin for patients with cardiac insufficiency.

3.2
4区
第一作者

Clinical therapeutics 2020

Association between inosine triphosphatase rs1127354 polymorphisms and ribavirin-induced anaemia and outcome in hepatitis C virus-infected patients: A meta-analysis.

WHAT IS KNOWN AND OBJECTIVES:The association between inosine triphosphatase (ITPA) rs1127354 polymorphisms in HCV-infected patients receiving ribavirin (RBV)-based therapy, and the risk of adverse drug reaction and outcomes is still unclear. A meta-analysis was conducted to summarize and clarify this association systematically.METHODS:A comprehensive search was performed in PubMed, Embase and Web of Sciences, and twenty-two studies were selected from the literature search. Pooled odds ratio (OR) and 95% confidence interval (95% CI) were estimated by either fixed- or random-effects models.RESULTS:Four outcomes were evaluated: (a) haemoglobin decline: significant associations with haemoglobin decline were found for rs1127354 CC VS CA + AA (OR = 10.59, 95% CI = 6.39-17.54); (b) severe anaemia: significant association with severe anaemia was observed for rs1127354 CC VS CA + AA (OR = 16.24, 95% CI = 6.21-42.43); (c) sustained virological response (SVR): CC genotype carriers had a decrease SVR during treatment (OR = 0.65, 95% CI = 0.52-0.81); (d) RBV dose reduction or stopping treatment: although statistical evidence of an association was found between the polymorphism and RBV dose reduction during treatment (OR = 1.80, 95% CI = 1.03-3.13), the sensitivity analysis suggested this result was not robust.WHAT IS NEW AND CONCLUSION:Patients with ITPA rs1127354 CC polymorphism are more likely to develop haemolytic anaemia, severe anaemia and decreased SVR. Testing for this genetic polymorphism may benefit patients.

2.0
4区

Journal of clinical pharmacy and therapeutics 2020

Mesoporous Silica Nanoparticle-Based Combination of NQO1 Inhibitor and 5-Fluorouracil for Potent Antitumor Effect Against Head and Neck Squamous Cell Carcinoma (HNSCC).

Head and neck squamous cell carcinomas (HNSCC) are one of the deadliest forms of cancer, and 90% of its origin is from squamous cells. NAD(P)H:quinone oxidoreductase 1 (NQO1), an enzyme overexpressed in squamous cell carcinoma, plays an important role in proliferation and chemoresistance. The main aims were to study the inhibitory effect of ß-lapachone (ARQ761 in clinical form) in HNSCC and to study the combinational effect of 5-FU and ß-lap in improving the therapeutic efficacy in HNSCC. Lipid bilayer-assembled mesoporous silica nanoparticles loaded with 5-FU/ß-lap were prepared and studied for its physicochemical and biological properties. ß-lap showed a concentration-dependent inhibition of NQO1 enzyme activity in Cal33 cells. Notably, significant inhibitory effect was observed at a dose of 20-50 μg/ml of ß-lap. Combination of 5-FU+ß-lap resulted in lower cell viability; most notably, 5-FU/ß-lap-loaded mesoporous silica nanoparticles (FNQ-MSN) exhibited significantly lower cell viability compared with that of any of the individual drug or physical combinations. ß-lap resulted in a decrease in the protein band of NQO1 compared with control; however, most notable decrease in the NQO1 level was observed in the FNQ-MSN-treated cell group. FNQ-MSN resulted in more than 60% of cell apoptosis (early and late apoptosis) and predominant nuclear fragmentation of cancer cells indicating the superior anticancer effect of a carrier-based combination regimen. Notable decrease in tumor volume was observed with the physical mixture of 5-FU+ß-lap; however, combined treatment of carrier-based 5-FU and ß-lap (FNQ-MSN) significantly delayed the tumor growth and prolonged the survival of tumor-bearing xenograft mice. These findings suggest the potential of NQO1 inhibitor in enhancing the chemotherapeutic potential of 5-FU in the treatment of HNSCC.

3区

Nanoscale research letters 2019

Association between the UGT1A1*28 allele and hyperbilirubinemia in HIV-positive patients receiving atazanavir: a meta-analysis.

Objectives The uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1)*28 allele in HIV-positive patients receiving atazanavir (ATV) might be associated with the risk of hyperbilirubinemia. Owing to mixed and inconclusive results, a meta-analysis was conducted to systematically summarize and clarify this association.Methods Based on a comprehensive search of PubMed, Embase and Web of Science databases, studies investigating the association between UGT1A1 alleles and hyperbilirubinemia was retrieved. We evaluated the strength of this relationship using odds ratios (ORs) with 95% confidence intervals (CIs). Sensitivity analysis was performed by removing each study one at a time and calculating the pooled ORs of the remaining studies to test the robustness of the meta-analysis results. The Q statistic and the I2 index statistic were used to assess heterogeneity. Publication bias was evaluated using Orwin's fail-safe N test.Results A total of six individual studies were included in this meta-analysis. A significantly increased risk of hyperbilirubinemia was observed in HIV-positive patients receiving ATV with the UGT1A1*1/*28 or UGT1A1*28/*28 genotype, and the risk was higher with the UGT1A1*28/*28 genotype than with the UGT1A1*1/*28 genotype. (UGT1A1*28/*28 versus UGT1A1*1/*28: OR = 3.69, 95%CI = 1.82-7.49; UGT1A1*1/*28 versus UGT1A1*1/*1: OR = 3.50, 95%CI = 1.35-9.08; UGT1A1*28/*28 versus UGT1A1*1/*1: OR = 10.07, 95%CI = 4.39-23.10). All of the pooled ORs were not significantly affected by the remaining studies and different modeling methods, indicating robust results.Conclusions This meta-analysis suggests that the UGT1A1*28 allele represents a biomarker for an increased risk of hyperbilirubinemia in HIV-positive patients receiving ATV.

4.0
3区
第一作者

Bioscience reports 2019