Genetic testing decision-making experiences within families of colorectal cancer patients: A qualitative study.

PURPOSE: Genetic testing is the gold standard for the diagnosis of hereditary colorectal cancer syndromes but is currently inadequate and nonideal. The decision-making processes regarding genetic testing are even less well known. The present study aims to explore the decision-making experience of genetic testing for colorectal cancer patients and their family members. METHOD: A descriptive qualitative study was employed. Data were collected using individual semi-structured interviews with 5 colorectal cancer patients and 20 family members from November 2020 to April 2021. Interviews were transcribed and analysed using inductive content analysis. RESULTS: Four categories were identified: 1) the source of information for genetic testing, 2) the differentiated attitudes towards genetic testing, 3) genetic testing decisional needs, and 4) the factors influencing genetic testing decision-making. Colorectal cancer patients and their families engaged in two distinct pathways to genetic testing decisions: direct decision-making and indirect decision-making. Throughout these processes, due to the limited source of information, they had information needs that were met and facilitated genetic testing decision-making. CONCLUSIONS: Colorectal cancer patients and family members need knowledge related to genetic testing, but they have limited access to information, which prevents them from making informed decisions. Providing decision aid interventions and informational support are significant steps towards addressing the support needs of this population.

Research progress of leptin resistance mechanism / 中华内分泌代谢杂志

With the progress of society and the improvement of living standard, the incidence of obesity is increasing. Serum leptin level increased significantly in the obese patients with hyperinsulinemia. However, the response to leptin is weakened, and then " leptin resistance" is widely concerned. Previous studies have focused on serum leptin levels and leptin receptor expression. In recent years, the mechanism of leptin resistance has been elucidated from different perspectives. This article tries to review the recent progress in the mechanism for leptin resistance, and briefly discusses the relationship between leptin resistance and insulin resistance, as well as the latest treatment measures for leptin resistance. With the development of leptin resistance research, it is believed that the increasing leptin sensitivity will be an important measure in obesity treatment.

Characterization and Identification of PpEIN3 during the Modulation of Fruit Ripening Process by Ectopic Expressions in Tomato.

CORE IDEAS: First study of PpEIN3 by transgenic experiments to verify its function in the maturity process PpEIN3 is a positive regulator of ethylene signal transduction pathway to promote fruits ripening Ethylene is one of the most important phytohormone in plants and plays a critical role during growth, development, maturity, and aging. The framework of the ethylene signaling pathway is well reported. Nevertheless, studies on Ethylene Insensitive 3 (EIN3), the downstream regulator of the ethylene signaling pathway, need to be investigated, especially in peach [Prunus persica (L.) Batsch]. In this study, we cloned PpEIN3 from peach and characterized it in tomato (Solanum lycopersicum L.). Our results depicted that the open-reading frame of PpEIN3 was 1875 bp, encoding a protein with 624 amino acid residues that contained a conserved EIN3 domain, a highly conserved N-terminal region, and seven DNA-binding sites. PpEIN3 showed very close association with homologous EIN genes from apple (Malus domestica Borkh.) and grapevine (Vitis vinifera L.). All investigated EIN proteins shared similar domains and structures. The PpEIN3 promoter possessed several motifs related to hormones that affect fruit development and ripening. Spatial-temporal expression analysis revealed that PpEIN3 was expressed at high levels in the late stage of fruit development vs. the early stage. In transgenic tomato, PpEIIN3 showed overexpression and the key ethylene biosynthesis genes SlACO1, SlACS1, and SlSAMS1 were upregulated and promoted early maturation in fruit. By contrast, PpEIIN3 silencing delayed ripening and reduced SlEIN3 expression in tomato. The results confirmed that PpEIN3 is a positive regulator of the ethylene signal transduction pathway, which promoted fruit ripening. Our findings provide valuable insight to the roles in ethylene signal components in the modulation of peach fruit ripening.

Berberine Induces Cell Apoptosis through Cytochrome C/Apoptotic Protease-Activating Factor 1/Caspase-3 and Apoptosis Inducing Factor Pathway in Mouse Insulinoma Cells / 中国结合医学杂志

OBJECTIVE@#To investigate apoptotic effects of berberine, a significant alkaloids component existing in Rhizoma coptidis, and its possible acting mechanism in insulinoma cells.@*METHODS@#Different concentrations of berberine were used to treat mouse insulinoma (MIN6) cells for various period of time. The viability and apoptosis of the cells were analyzed using methylthiazolyldiphenvl-tetrazolium bromide assay, flow cytometry and enzyme-linked immuno sorbent assay. Changes in the relating pro- and anti-apoptosis proteins were detected by western-blotting.@*RESULTS@#The half-maximal inhibitory concentration (IC) of berberine was 5.7 μmol/L on MIN6 cells viability for 16 h. Berberine caused a 20% reduction (P<0.05) in cell number after only 4-h incubation; which reached 50% after 24 h (P<0.01). Berberine treatment for 16 h significantly increased the level of DNA fragmentation. The flow cytometry showed the apoptotic rate increased 2.9- and 4.6-fold after treating with berberine (5 μmol/L) for 8 and 16 h, while 3- and 8.7-fold after 10 μmol/L treatment for 8 and 16 h (P<0.01). Berberine treatment dramatically elevated the expression ratio of Bax to Bcl-2. Meanwhile, berberine notably increased the apoptosis-inducing factors and cytochrome C transforming from the mitochondria to the cytoplasm. Apoptotic protease-activating factor 1 (Apaf-1) was subsequently activated after cytochrome C release. Furthermore, caspase-3 and poly adenosine diphosphate-ribose polymerase were also activated to trigger apoptosis cascade.@*CONCLUSION@#High concentration (5 and 10 μmol/L) of berberine could induce the apoptosis of MIN6 cells through cytochrome C/Apaf-1/caspase-3 and apoptosis inducing factor (AIF) pathway.

Current studies on and prospects of domestic smart library / 中华医学图书情报杂志

As a new model of future library, the intelligent technology-supported smart library can be located at anywhere and at anytime. The current studies on domestic smart library were analyzed from its emerging background in order to provide reference for the relevant studies on smart library in our country.

Constructing query-driven dynamic machine learning model with application to protein-ligand binding sites prediction.

We are facing an era with annotated biological data rapidly and continuously generated. How to effectively incorporate new annotated data into the learning step is crucial for enhancing the performance of a bioinformatics prediction model. Although machine-learning-based methods have been extensively used for dealing with various biological problems, existing approaches usually train static prediction models based on fixed training datasets. The static approaches are found having several disadvantages such as low scalability and impractical when training dataset is huge. In view of this, we propose a dynamic learning framework for constructing query-driven prediction models. The key difference between the proposed framework and the existing approaches is that the training set for the machine learning algorithm of the proposed framework is dynamically generated according to the query input, as opposed to training a general model regardless of queries in traditional static methods. Accordingly, a query-driven predictor based on the smaller set of data specifically selected from the entire annotated base dataset will be applied on the query. The new way for constructing the dynamic model enables us capable of updating the annotated base dataset flexibly and using the most relevant core subset as the training set makes the constructed model having better generalization ability on the query, showing "part could be better than all" phenomenon. According to the new framework, we have implemented a dynamic protein-ligand binding sites predictor called OSML (On-site model for ligand binding sites prediction). Computer experiments on 10 different ligand types of three hierarchically organized levels show that OSML outperforms most existing predictors. The results indicate that the current dynamic framework is a promising future direction for bridging the gap between the rapidly accumulated annotated biological data and the effective machine-learning-based predictors. OSML web server and datasets are freely available at: http://www.csbio.sjtu.edu.cn/bioinf/OSML/ for academic use.

Association of genetic polymorphism in plasminogen activator inhibitor-1 gene with endometrial hypoplasia in infertile women / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between the plasminogen activator inhibitor (PAI-1) polymorphisms and endometrial hypoplasia in infertile women.</p><p><b>METHODS</b>The study was conducted in 105 primary infertile patients with endometrial hypoplasia diagnosed by pathology and the thickness of endometrium by B-mode ultrasound and 85 controls who were not pregnant and had normal fertility. The -675 4G/5G polymorphism in the PAI-1 gene was detected by polymerase chain reaction-restriction fragment length polymerphim analysis.</p><p><b>RESULTS</b>The frequencies of 4G/4G genotype and 4G allele of the PAI-1 gene were higher in the patient group (48.6% and 66.2%) than in the normal controls (22.4% and 47.1%) (P < 0.01). ThePAI-1 4G/4G genotype was significantly associated with endometrial hypoplasia in the infertile patients (OR=4.9, 95% CI: 2.10-10.12).</p><p><b>CONCLUSION</b>The present findings suggest that the 4G/5G polymorphism of the PAI-1 gene was associated with endometrial hypoplasia in infertile patients.</p>

Ultrastructural observation of the effect of oyster antibiosis protein on Candida albicans / 中国海洋药物

Objective To observe the ultrastructural changes of Candida albicans by the effect of oyster antibiosis protein which was extracted from muscle of oyster.Methods The colonies of candida albicans exposed to oyster antibiosis protein for 24 hours,with a blank control group and the differences of their ultrastructure were studied under electron microscope.Results After affected by oyster antibiosis protein for 4h,the cell walls were lacked and had reductus with pyknotic cytoplasm.16 hours later,most cells became global shape and their cytomatrix components were lost and some vacuoles appeared in the cytoplasm.24 hours later,the cell walls depleted and the cells spitted.Conclusion oyster antibiosis protein affected commendably the function of candida albicans.