Medicine
-
The aim of the study was to investigate the frequency and types of mutations on the retinoblastoma gene (RB1 gene) in Turkish population. RB1 gene mutation analysis was performed in a total of 219 individuals (122 probands with retinoblastoma, 14 family members with retinoblastoma and 83 clinically healthy family members). All 27 exons and close intronic regions of the RB1 gene were sequenced for small deletions and insertions using both the Sanger sequencing or NGS methods, and the large deletions and duplications were investigated using the MLPA analysis and CNV algorithm. ⋯ Approximately 51.5% of the patients were diagnosed earlier than 12 months old, and de novo mutation was found in 32.4% of the patients. Germline small genetic rearrangement mutations were detected in 78.9% of patients and LGRs were detected in 21.1% of patients. An association was detected between the eye color of the RB patients and RB1 mutations. 8 of the mutations detected in the RB1 gene were novel in the study.
-
In recent years, the interactions between host and host-associated gut flora have received increasingly widespread attention. Tai chi is a traditional Chinese exercise, which can significantly benefit adults with health condition. But the studies on the function of intestinal flora and its correlation with tai chi exercise, are limited. In addition, the influence of tai chi on intestinal flora has largely been understudied. In this study, we investigated the changes in intestinal microflora by 16S rRNA sequencing to clarify the specific mechanism of tai chi on the regulation of intestinal flora and seek to formulate a reasonable "exercise prescription." ⋯ 24-style simplified tai chi enhances human intestinal flora diversity. Improvements observed in blood lipid profiles and blood pressure levels.
-
With the increased risk of complications associated with traditional spinal fusion for the treatment of degenerative disc disease, total disc replacement (TDR) has received increasing attention in recent years. Despite the rapid development of its related research fields, its research status and the hotspot analysis are still unclear. Our goal was to identify and analyze the global research trends on TDR using bibliometric tools. ⋯ Meanwhile, the latest research hotspots and directions were "cervical disc arthroplasty," "7 year follow up," "heterotopic ossification." The scientific research on TDR has increased considerably in recent years. This study clarifies the current research status and future development trends in order to guide clinicians and researchers in the field of TDR. It can be inferred that cervical disc arthroplasty and bone loss will be the research focus in the future.
-
This study aimed to investigate the relationship between white matter hyperintensity (WMH) and cerebral microbleeds (CMBs) using susceptibility-weighted imaging (SWI) with high resolution. Additionally, it sought to analyze the clinical significance of SWI with high resolution and its potential to guide intravenous thrombolysis in stroke patients. In this retrospective analysis, we examined 96 patients with hypertension after acute stroke in our hospital using SWI. ⋯ There is a positive correlation between CMBs and the grading of leukoaraiosis in patients with acute stroke and hypertension. The higher the degree of WMH, the more severe the microvascular lesions, increasing the likelihood of intracranial hemorrhage. SWI can provide valuable guidance for administering intravenous thrombolysis in patients with acute stroke.
-
In this study, the potential mechanism of the Hu-Zhang Qing-Mai Formulation (HZQMF) on diabetic retinopathy (DR) in inhibiting oxidative stress was explored through network pharmacology analysis and in vitro experiments. ⋯ Que might significantly reduce H2O2-induced ARPE-19 cell injury by inhibiting apoptosis-related genes of the AGE-RAGE pathway (JUN, MAPK1, STAT3). This study lays the foundation for further research on HZQMF in treating DR.