Epilepsy is one of the most common neurological diseases globally. We conducted a systematic review of the genetic markers and personalized treatment strategies used in the precision medicine treatment of epilepsy. An exhaustive electronic search was carried out on PubMed and Google Scholar, spanning from inception up to June 2023 on epilepsy and biomarkers. A total of 45 articles from PubMed and 19 articles from Google Scholar were imported and screened based on studies that focused primarily on genetic markers and precision methods for epilepsy subtyping, treatment strategies, outcomes, and adverse effects. Reviews and studies not in English were excluded. Full-text data extraction, coding, and analysis were carried out with Microsoft Excel. For the risk of bias assessment of the final included studies, the Critical Appraisal Skills Program checklist was used. A total of 19 studies were analyzed in the review. The SLC35A2 gene saw a reduction in seizure frequency with D-galactose treatment while the KCNQ2 gene saw improvement with phenytoin, carbamazepine, and retigabine. GRIN2D gene saw varying improvements with memantine. KCNT1 gene saw improvement with only a combination of quinidine and topiramate, quinidine was not useful when used alone. Other studies involved the identification of different markers using gene and exome sequencing. These studies collectively provide a diverse range of insights into epilepsy, with variations in study design, sample size, age groups, and diagnostic criteria, highlighting the multifaceted nature of epilepsy research. These studies contribute to our understanding of epilepsy diagnosis and management in different clinical settings, however, there were some limitations such as QT prolongation was observed with specific medications and participant heterogeneity. Small sample sizes reduced statistical power and brief durations of studies limited their ability for long-term analysis. Although most studies had a low risk of bias, two studies demonstrated some reporting bias. Fianlly, the absence of biomarkers is a limitation that impedes the study's capacity to explore underlying biological mechanisms.
The study aimed to systematically compare the effects of psychological interventions on relieving fear of cancer recurrence (FCR) by a systematic review and network meta-analysis (NMA). The relevant randomized controlled trials were searched from China National Knowledge Infrastructure, Wanfang Database, VIP Database for Chinese Technical Periodicals, Chinese Biomedical Literature Database, Cochrane Library, Pubmed, Web of Science, CINAHL, PsycINFO, and Embase. The retrieval time was from the establishment of each database to January 23, 2024. Review Manager 5.4 software was used to evaluate the quality of each literature that met the inclusion and exclusion criteria. Stata16.0 was used for NMA. Standardized mean differences (SMDs) of patients' FCR outcomes and 95% confidence intervals (CIs) were used to determine the effects. Inconsistency test, network map, surface under the cumulative rankings curve (SUCRA), comparison-adjusted funnel plot were performed. A total of 41 articles were included, with 4056 patients and 15 psychological interventions. Six psychological interventions (NT, Narrative Therapy; ACT, Accept and Commitment Therapy; GT, Therapy based on Gratitude-Expanded Behavior Theory; Blend Cognitive Behavior Therapy; PERMA, PERMA Therapy; CBT, Cognitive Behavior Therapy) were effective in alleviating FCR in the short term compared with usual care, whereas the effects of ACT, GT, and CBT were sustained up to more than 3 months postintervention. NT ranked as most likely to alleviate FCR, (SUCRA: 89.8%, SMD: −2.89, 95% CI: −4.08 to −1.69), followed by ACT (SUCRA: 88.1%, SMD: −2.83, 95% CI: −4.38 to −1.27) in short-term effects. GT ranked as most likely to alleviate FCR in long-term effects (SUCRA: 100%, SMD: −3.35, 95% CI: −4.21 to −2.50), followed by ACT (SUCRA: 88.9%, SMD: −1.64, 95% CI: −2.36 to −0.91). However, most of the quality of evidence for pairwise comparison was rated as “very low” to “low.” The evidence can help inform evidence-based practice and guide healthcare providers in deciding on the most effective psychological interventions for FCR, which should also be viewed with caution due to the low level of the quality.
p95HER2 isoform is a truncated form of HER2 that retains the C terminal domain but lacks an N terminal trastuzumab binding site. From 2014 to 2016, we assessed the expression of p95HER2 expression in 59 HER2-positive breast cancer patients from FUSCC. The median follow-up was 54 months. In our study, 19 patients (32.2%) were p95HER2 positive. p95HER2-positive expression rate is higher in premenopausal patients than in postmenopausal patients (68.4% vs. 31.6%, P = .026). p95HER2 positive was found more in premenopausal patients and was associated with worse DFS (hazard ratio, 2.21; 95% CI, 1.06–4.61; P = .034), indicating that p95HER2 expression tends to be a more aggressive isoform type of HER2-positive breast cancer.
Esophageal cancer (EC) mainly includes two histological subtypes, esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma, which is of high morbidity and mortality. With the continuous development of medical technology, the treatment of EC has been greatly improved, but its prognosis is still unfavorable. Recent single-cell RNA-sequencing (scRNA-seq) is expected to bring breakthroughs in the treatment of EC. First, we identified T cell marker genes and generated signature by analyzing scRNA-seq data from Expression Omnibus (GEO) database and TCGA database. Then, an immune prognostic model was constructed using the least absolute shrinkage and selection operator. We found that the survival rate of ESCC varied significantly among the low- and high-risk groups. Two genes from T cell signature, DCPS and CYB5R3, were expressed in ESCC cells. Collectively, our study proposed a novel prognostic signature for ESCC patients based on T cell marker genes.
Cancer-associated fibroblasts (CAFs) are the center of cross-communication between various cells in the tumor stroma. However, how CAFs-associated genes play an important role in Head and neck squamous cell carcinoma (HNSCC) prognosis has not been reported. Transcriptome data were downloaded from TCGA and GEO databases. Devtools, DPIC, xCell, MCPcounter, and Estimate packages were used to calculate CAFs scores and immune infiltration. Prognosis and weighted gene coexpression network analysis (WGCNA) analysis were performed between high or low risk populations based on CAF scores. Hub genes were identified, intersected, and enriched between TCGA and GEO databases. CAFs related genes were used to construct a prognostic model and the tumor immune dysfunction and exclusion database was used to evaluate the immune infiltration. Drug sensitivity, difference analysis and the HPA database were used to identify sensitive drugs and verify their expression. TCGA and GEO data suggested that CAFs scores had a role in HNSCC prognosis prediction. Based on CAFs scores, WGCNA and core gene enrichment analysis were performed to construct a CAFs-related prognostic model. The prognostic model composed of a total of 12 CAFs genes could predict the prognosis well and was validated in the validation dataset, demonstrating its applicability to external data. According to the model, although there was no statistical difference in immune escape between the high and low risk groups, the proportion of patients who responded to immunotherapy was different. Drug sensitivity also differed between the two groups. This study suggests that CAFs associated genetic signatures may help to optimize risk stratification and provide new insights into individualized cancer treatment.
To evaluate the effect of different decalcification solutions on the immunohistochemical staining of trichorhinophalangeal syndrome type 1 (TRPS1), and to provide a reliable basis for the accurate diagnosis of bone metastasis of breast cancer. Due to the limited biopsy samples of bone metastatic cancer, 20 cases of invasive breast cancer were selected to simulate bone metastatic biopsy, dividing into four groups: undecalcified group, 30% formic acid group, 10% hydrochloric acid group and 10% nitric acid group. Immunohistochemical staining was performed after treatment for 2, 6, 18 and 24 h. There was no change in the proportion and intensity of TRPS1 cells in the formic acid decalcification group within 18 h, but decreased significantly after 24 h. The staining intensity of TRPS1 and the proportion of stained cells were significantly decreased in the hydrochloric acid decalcification group since 2 h treatment. The percentage and intensity of positive cells in the nitric acid decalcification group changed little or no change within 6 h, and then gradually decreased with the extension of time. Another three invasive breast cancer samples were used to compare the effects of different decalcification solutions on the same case. In brief, we conclude that the effect of 30% formic acid decalcification on TRPS1 staining is small when the time is less than 18 h. 10% nitric acid decalcification should be controlled within 6 h, which has little effect on TRPS1 staining, and 10% hydrochloric acid decalcification will lead to significantly less positive TRPS1 staining, so it is not recommended for breast bone metastasis tissue decalcification.