[Analysis of FBN1 genemutations in a pedigree with Marfan syndrome].

Mutations in fibrillin-1 (FBN1) were detected in an autosomal dominant Marfan syndrome (MFS) pedigree. The related phenotypes and the significance of mutation screening were discussed. Complete medical and cardiovascular examinations for all pedigree members were performed. Whole exons sequencing (WES) was used to sequence the DNA of the patients and their relatives. The potential pathogenic mutation sites were screened by bioinformatics method. Sanger sequencing was used to verify the mutation sites in the pedigree. The results showed that FBN1 missense mutation was c.6806 T>C in exon 56, resulting in isoleucine being replaced by threonine (p. Ile2269Thr). This mutation has not been reported in Chinese Han population. The occurrence of the mutations strongly correlated with the phenotypes of the patients. The results expand the mutation spectrum of FBN1, and it is helpful to further explore the molecular pathogenesis of MFS and MFS related diseases.

[Factors influencing poor prognosis of mechanical thrombectomy in time window of acute ischemic stroke].

Objective: Investigate the causes of poor prognosis of mechanical thrombectomy in the time window of acute ischemic stroke (AIS) with anterior circulation. Methods: A retrospective analysis was made on the data of 78 patients with anterior circulation AIS who underwent mechanical thrombectomy in the time window from January 2017 to December 2017 in the Department of Vascular Neurosurgery of Liaocheng Brain Hospital. The modified Rankin scale (mRS) was used to evaluate the prognosis of the patients 3 months after operation. According to the prognosis,the patients were divided into the group with good prognosis (42 cases, mRS<2 points) and the group with poor prognosis (36 cases, mRS<3 points). Univariate and multivariate Logistic regression analysis was used to analyze the related factors of poor prognosis. Results: (1) Univariate analysis showed that the prognosis of patients with good combination and primary stenosis of diabetes mellitus and atherosclerosis was lower than that of patients with poor prognosis (P<0.05). The collateral circulation compensation rate and vascular recanalization rate of patients with good prognosis were higher than those of patients with poor prognosis (P<0.05). Learning significance (P<0.05). (2) Multivariate analysis showed that diabetes mellitus (P=0.035), collateral circulation compensation (P=0.011) and primary atherosclerotic stenosis (P=0.042) were independent risk factors for poor prognosis. Conclusion: Perfect preoperative evaluation and strict screening of patients, good collateral circulation compensation,individualized treatment for patients with primary atherosclerotic stenosis,and strict control of postoperative hyperglycemia can improve the clinical prognosis of endovascular therapy.

Sensitive and selective LC-MS/MS assay for quantitation of flutrimazole in human plasma.

OBJECTIVE: A highly sensitive liquid chromatography-tandem mass spectrometry method was developed and validated for the determination of flutrimazole in human plasma. This study was to investigate the application of sensitive and selective LC-MS/MS method for quantitation of flutrimazole in human plasma. MATERIALS AND METHODS: The analysis and internal standard were extracted with ether and hexane (v:v, 1:1) followed by a rapid isocratic elution with a 0.1% formic acid/methanol (v:v, 20:80) on a C18 column (50 mm × 2.1 mm I.D.) and subsequent analysis by mass spectrometry in the multi-reaction-monitoring mode. The precursor to production transitions of m/z 279.0 → 183.1 and m/z 441.0 → 295.1 were used to measure the analyte and the internal standard. RESULTS: The assay was linear over the concentration range of 0.996-99.6 ng•mL-1 for flutrimazole in human plasma. The lower limit of quantification was 0.996 ng•mL-1 and the extraction recovery was larger than 78.83% for flutrimazole. The inter- and intra-day precision of the method at three concentrations was less than 9.26%. CONCLUSIONS: The LC-MS/MS method was firstly applied to quantitation of flutrimazole in human plasma.

Preliminary fluorimetric screening of fourteen palladium complexes as potential antitumor agents.

Making use of the fact that the combination of a drug substance with DNA may inhibit the duplication, synthesis and proliferation of DNA and the consistency of the in vivo and in vitro interactions, the authors worked out a preliminary screening method for testing complex agents as potential antitumor drugs using ethidium bromide as a fluorescence probe. In this report, the method was applied for in vitro testing fourteen synthesized palladium(II)/phenanthroline/amino acid/chloride complexes as potential non-platinum antitumor agents. The fluorimetric screening method was compared with methylene blue tube test and trypan blue dye exclusion assay. All three methods gave agreeable results. Among the complexes tested, [Pd(phen)(lys)]Cl, [Pd(phen)(arg)]Cl and [Pd(phen)(pro)]Cl showed antineoplastic ratios for animal tumor S-180 56%, 50% and 48%, respectively, in accordance with the order of their binding constants with DNA, 7.96 x 10(6), 4.52 x 10(6) and 1.0 x 10(6), respectively. The test results show that fluorimetric method is simple, cheap and rapid, suitable for preliminary screening of antitumor complexes.