Current status and influencing factors of gene screening in first-degree relatives of patients with hereditary breast-ovarian cancer syndrome

Background and purpose: Carriers of BRCA1/2 gene germline mutations have an increased lifetime risk of ovarian, breast and other cancers. Early identification of these high-risk groups and targeted risk management programs are important for reducing cancer morbidity and mortality. The aim of this study was to analyze the genetic screening status and influencing factors of first-degree relatives of patients with hereditary breast-ovarian cancer syndrome (HBOC) with BRCA1 and BRCA2 gene germline mutations. Methods: A convenient sampling method was used to select 72 HBOC female patients with BRCA1/2 gene germline mutations and 316 first-degree relatives who had been diagnosed in the Obstetrics and Gynecology Hospital affiliated to Fudan University from February 2021 to April 2022, and a questionnaire survey was used to find out whether the first-degree relatives of HBOC patients accepted gene screening. Logistic regression was used to analyze the relevant influencing factors. Results: Among 72 female patients with HBOC, 93.1% (n=67) conveyed the results of gene screening to their first-degree relatives. Among first-degree relatives over age of 18, 32.3% (n=102) decided to carry out gene screening and genetic risk management. Logistic regression analysis showed that the disease type of patients, International Federation of Gynecology and Obstetrics (FIGO) stage of ovarian cancer, education level, first-degree relatives gender, education level and emotional intimacy between patients and relatives were significant factors affecting whether first-degree relatives were willing to accept genetic screening and genetic risk management (P<0.05). Conclusion: The current situation of gene screening for first-degree relatives of HBOC patients is not optimistic. For breast cancer patients, patients with lower education, male relatives, relatives with lower education and relatives with lower emotional closeness to patients, the probability of receiving gene screening is lower. We should apply targeted interventions to improve the self-gene screening behavior of these relatives

Establishing the metabolic network of isoquinoline alkaloids from the Macleaya genus

Qing, Zhixing, Yan, Fangqin, Huang, Peng, Zeng, Jianguo (2021): Establishing the metabolic network of isoquinoline alkaloids from the Macleaya genus. Phytochemistry (112696) 185: 1-8, DOI: 10.1016/j.phytochem.2021.112696, URL: http://dx.doi.org/10.1016/j.phytochem.2021.11269

Alanine–Glyoxylate Aminotransferase Sustains Cancer Stemness Properties through the Upregulation of SOX2 and OCT4 in Hepatocellular Carcinoma Cells

Liver cancer stem cells (LCSCs) are a small subset of oncogenic cells with a self-renewal ability and drug resistance, and they promote the recurrence and metastasis of hepatocellular carcinoma (HCC). However, the mechanisms regulating LCSCs have not been fully explored. By enriching LCSCs from spheroid cultures and performing transcriptomic analysis, we determined that alanine–glyoxylate aminotransferase (AGXT), which participates in the metabolism of serine and glycine, was significantly upregulated in spheroid cultures, and its function in LCSCs remains unknown. Through the exogenous overexpression or short hairpin RNA knockdown of AGXT in HCC cells, we observed that changes in the AGXT level did not affect the spheroid ability and population of LCSCs. The knockdown of AGXT in LCSCs reduced the number of spheroids and the population of LCSCs; this implies that AGXT is required for the maintenance of cancer stemness rather than as a driver of LCSCs. Mechanistically, AGXT may sustain the self-renewal potential of LCSCs by upregulating the expression of SRY-box transcription factor 2 (SOX2) and octamer-binding transcription factor 4 (OCT4), two well-known master regulators of cancer stemness. Taken together, our study demonstrates the role of AGXT in supporting LCSCs; thus, AGXT merits further exploration

Preparation of thin electrolyte film via dry pressing/heating/ quenching/calcining for electrolyte-supported SOFCs

The development of technologies used to prepare thin electrolyte films will stimulate the application of electrolyte supported SOFCs since thin electrolyte films typically have low ohmic resistances and good electrochemical performance. This paper presents a novel method for the preparation of thin electrolyte films for yttria-stabilized zirconia (YSZ)-supported solid oxide fuel cells (SOFCs) via dry pressing/heating/quenching/calcining. The thicknesses of the as-prepared YSZ films were as low as 78 mu m, which is significantly thinner than those prepared using a traditional method (greater than 200 mu m) via dry pressing/calcining/polishing. More importantly, the preparation process was quicker. Using this novel method, a YSZ-supported cell with a configuration of (La0.6Sr0.4)(0.9)Co0.8Fe0.2O3-delta (LSCF)-Ce0.8Sm0.2O2-delta(SDC)/SDC/YSZ/SDC/Ba0.5Sr0.5Co0.8Fe0.2O3-delta(BSCF)-SDC was fabricated and tested. The results showed promising electrochemical performance and a peak power density of 0.64 W cm(-2) at 850 degrees C was obtained, which was much higher than the cell fabricated using the traditional method (0.29 W cm(-2)). The ohmic resistance (R-O) at 850 degrees C is 0.19 Omega cm(2), which is much lower than that of the cell fabricated using the traditional method (0.33 Omega cm(2)) at an identical temperature. The modified method described in this work is shown to be a promising technique to prepare thin electrolyte films for high-performance, electrolyte-supported SOFCs

Severe Burn Injury Significantly Alters the Gene Expression and m6A Methylation Tagging of mRNAs and lncRNAs in Human Skin

N6-methyladenosine (m6A) modulates RNA metabolism and functions in cell differentiation, tissue development, and immune response. After acute burns, skin wounds are highly susceptible to infection and poor healing. However, our understanding of the effect of burn injuries on m6A methylation and their potential mechanism is still limited. Human m6A-mRNA&lncRNA Epitranscriptomic microarray was used to obtain comprehensive mRNA and lncRNA transcriptome m6A profiling and gene expression patterns after burn injuries in human skin tissue. Bioinformatic and functional analyses were conducted to find molecular functions. Microarray profiling showed that 65 mRNAs and 39 lncRNAs were significantly hypermethylated; 5492 mRNAs and 754 lncRNAs were significantly hypomethylated. Notably, 3989 hypomethylated mRNAs were down-expressed and inhibited many wound healing biological processes and pathways including in the protein catabolic process and supramolecular fiber organization pathway; 39 hypermethylated mRNAs were up-expressed and influenced the cell surface receptor signaling pathway and inflammatory response. Moreover, we validated that m6A regulators (METTL14, METTL16, ALKBH5, FMR1, and HNRNPC) were significantly downregulated after burn injury which may be responsible for the alteration of m6A modification and gene expression. In summary, we found that homeostasis in the skin was disrupted and m6A modification may be a potential mechanism affecting trauma infection and wound healing

Kesterite Cu₂ZnSn(S,Se)₄ Solar Cells with beyond 8% Efficiency by a Sol–Gel and Selenization Process

A facile sol–gel and selenization process has been demonstrated to fabricate high-quality single-phase earth abundant kesterite Cu₂ZnSn­(S,Se)₄ (CZTSSe) photovoltaic absorbers. The structure and band gap of the fabricated CZTSSe can be readily tuned by varying the [S]/([S] + [Se]) ratios via selenization condition control. The effects of [S]/([S] + [Se]) ratio on device performance have been presented. The best device shows 8.25% total area efficiency without antireflection coating. Low fill factor is the main limitation for the current device efficiency compared to record efficiency device due to high series resistance and interface recombination. By improving film uniformity, eliminating voids, and reducing the Mo­(S,Se)₂ interfacial layer, a further boost of the device efficiency is expected, enabling the proposed process for fabricating one of the most promising candidates for kesterite solar cells