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.

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.

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.

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.

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.

Circular RNAs (CircRNAs) are now under discussion as novel promising biomarkers for patients with various tumors. Our study aimed to identify circRNAs related to the progression of colon cancer and to further investigate their roles in the development of colon cancer base on The Cancer Genome Atlas database. The competing endogenous RNA (ceRNA) network was constructed based on 4 circRNAs, 14 miRNAs, and 229 mRNAs. Meanwhile, three hub genes were identified via the protein protein interaction networks (PPI) network. It should be noted that only RUNX1 targeted by circ-0084615 and mir-330-3p was confirmed as a survival-related gene. Further analyses indicated the possible function of RUNX1 in colon progression, such as angiogenesis, epithelial–mesenchymal transition, hedgehog signaling and so on. Further investigations were conducted into the correlation between RUNX1 expression profiles and immune cells. Finally, we validated the expression of the circ-0084615/mir-330-3p/RUNX1 axis in clinical specimens. In conclusion, we constructed ceRNA network and revealed that the circ-0084615/mir-330-3p/RUNX1 axis serves as a critical role in colon cancer.

Colorectal cancer (CRC) is a heterogeneous disease and one of the most prevalent malignancies worldwide. Previous research has indicated that phosphatase and tensin homolog (PTEN)-related genes found in CRC may serve as potential biomarkers for individualized treatment options. The present study aimed to examine the association between PTEN-related genes and the prognosis of CRC patients by evaluating the significance of PTEN-related hub genes and determining potential mechanisms and genes associated with them. Gene expression profiles and clinical information were obtained from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases. At present, PTEN mutations have been identified in 7% of CRC patients, according to the most recent TCGA data. Differential expression analysis revealed 54 genes as differentially expressed genes (DEGs) between PTEN-related genes and GEO databases (GSE39582 and GSE6263). Further gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were conducted on PTEN-related DEGs. The prognostic efficacy of the PTEN-related DEG signature was assessed using Kaplan–Meier survival and receiver operating characteristic curve analyses. Bioinformatics methods were utilized to analyze the correlation between PTEN-related DEGs and CRC prognosis, survival, and drug efficacy. Through these analyses, eight prognostic-related PTEN-related hub genes (PPARGC1A, NTRK2, ANK2, PLCB4, STC2, PLAU, CDKN1A, and HPGDS) were identified and a risk prognosis model was constructed. Notably, NTRK2 and HPGDS were found to affect drug treatment response in CRC. Targeting these prognostic-related PTEN-related hub genes can regulate cell death signaling, which may benefit the prognosis of CRC patients and improve drug sensitivity.

To investigate the imaging manifestations and pathological features of ocular adnexal lymphoma (OALs) in order to provide relevant information for ophthalmologists. A total of 94 patients with OALs were pathologically confirmed between August 2018 and July 2023, and their demographics, location, subtype, treatment, and prognosis were retrospectively studied. 94 patients with OALs were included in this study, of whom 28 were female (29.79%) and 66 were male (70.21%). The age of the patients ranged from 21 to 80 years, with a predominance of 50–60 years (60/94); monocular onset was common (90/94), and the most site of onset was orbital (74/94), followed by conjunctiva (12/94), eyelids (4/94), vitreous (3/94), and lacrimal gland (1/94). CT and MRI can show the involvement and extent of the lesions, and the pathology of the disease is characterized by mucosa-associated lymphoid tissue marginal zone B-cell lymphoma (72/94), diffuse large B-cell lymphoma (10/94), T-cell lymphoma (4/94), mantle cell lymphoma (2/94), Burkitt's lymphoma (2/94), small lymphocytic lymphoma (2/94), and follicular lymphoma (1/94). All patients received surgical treatment, 42 patients received local radiation therapy, 35 patients received chemotherapy, 13 patients received radiation therapy and chemotherapy successively, and 3 patients received comprehensive treatment. During the follow-up, three patients relapsed, four died, one was lost to follow-up, and the remaining patients had stable conditions. The majority of OALs are mucosa-associated lymphoid tissue marginal zone B-cell lymphomas (MALT) with an excellent prognosis. It mostly occurs in people over 50 years of age and most site of the onset is orbital.

This study aimed to assess the clinical efficacy and safety of aprepitant injection in preventing and treating nausea and vomiting induced by platinum-based chemotherapy in lung cancer patients. Forty-eight patients with advanced first-line lung cancer undergoing cisplatin- or carboplatin-based chemotherapy were randomly assigned to either the experimental group or the control group, with 24 patients in each group. The control group received dexamethasone and palonosetron for vomiting prevention, whereas the experimental group received dexamethasone, palonosetron, and aprepitant injection. The study compared the incidence of acute and delayed vomiting, functional life index (FLIE) scores for nausea and vomiting at 24 and 120 h postchemotherapy and the occurrence of adverse drug reactions between the two groups. The effective control rate of acute-phase vomiting in the treatment group was 83.33%, significantly higher than 45.83% in the control group, with a statistically significant difference (p < .05). The treatment group also demonstrated a higher effective control rate of delayed vomiting, with 75% compared with 41.67% in the control group, which was statistically significant (p < .05). Furthermore, FLIE scores in the treatment group at 24 and 120 h after chemotherapy were higher compared with the control group, with a statistically significant difference (p < .05). The incidence of complications such as fatigue, headache, dyspepsia, anorexia, hiccup, and constipation showed no significant difference between the two groups (p > .05). Aprepitant injection effectively prevents platinum-based chemotherapy-induced nausea and vomiting, enhances patients' quality of life, and demonstrates good safety, justifying its clinical adoption.

Background: Temperature control plays a pivotal role in patients with heat stroke (HS), but little work has been done sufficiently on the use of temperature control to reflect disease progression. Here, we defined and analyzed the concrete role of controlling time for core temperature to physiological level (CTTP), in order to explore a potential index to guide the treatment of HS.

Method: This is a retrospective cohort study. From three hospitals located in Sichuan province, China, we collected a total of 179 HS cases with clinical diagnosis and treatment records. We defined CTTP as the time interval of HS onset to stabilization of core temperature (rectal temperature) below 37.7°C and analyzed the correlation between CTTP and inpatient death of HS patients.

Results: Of all the cases, 64.80% were male and 53.07% were exertional heat stroke (EHS). The median (IQR) age was 59 (23.5–73) years old, and the median (IQR) onset temperature was 42 (40.4–42)°C. Multivariable analysis demonstrated significantly high inpatient death in the highest CTTP tertile (>18 h) (hazard ratio: 18.75; 99% confidence interval: 4.06–86.59; p = .0002). In addition, compared with patients in lowest CTTP tertile, patients in highest CTTP tertile were at significantly higher risk of organ damage: 3.48-fold for respiratory failure (95% CI: 1.41–8.59, p = .0069); 3.18-fold for shock (95% CI: 1.37–7.39, p = .0071); 4.09-fold for rhabdomyolysis (95% CI: 1.73–9.64, p = .0013); 4.64-fold for renal damage (95% CI: 2.12–10.14, p = .0001).

Conclusion: Long of CTTP predicts inpatient death of HS patients with a CTTP tertile >18 h associated with the highest rate of inpatient death.

This study aimed to investigate the risk factors for the onset of subsequent primary breast cancer (SPBC) in women with a previous diagnosis of early-stage breast cancer (BC) and to construct a prognostic prediction model for patients with SPBC. Using the Surveillance, Epidemiology, and End Results-17 (SEER-17) database, we conducted a retrospective cohort analysis on women with initial primary early-stage BC from 2004 to 2015. Standardized incidence ratio (SIR) was calculated to determine the risk of subsequent primary cancer (SPC). A competing risk model was built to identify the risk factors for the onset of SPBC. And risk factors associated with breast cancer-specific mortality in SPBC patients were evaluated and presented in the form of nomogram. Compared with the general population, the overall risk of SPC for all sites was significantly elevated in women with early-stage BC (SIR = 1.21, 95% CI: 1.20–1.23), and breast is the most frequent site. Age, race and ethnicity, year of diagnosis, history of other tumors, histological type, surgery, radiation, chemotherapy, tumor size, positive lymph nodes numbers and ER status were independent risk factors (p < .05) for the onset of SPBC. A new prognosis nomogram demonstrated good discrimination after internal validation with a C-index of 0.869 (95% CI: 0.859–0.880), and showed favorable consistency and clinical usefulness. The incidence of SPBC and prognosis of patients with SPBC were well estimated based on a large cohort. Our nomogram model had excellent prediction performance and could be a useful tool to predict prognosis.