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.
-
Cardiovascular diseases (CVD) are the leading cause of death globally, followed by cancer. Angiotensin II contributes greatly to CVD pathogenesis, and Angiotensin II receptor blockers (ARBs) constitute a mainstay in hypertension and CVD management. However, the relationship between ARBs and cancer initiation is controversial, with no clear data in Lebanon. ⋯ In summary, a significant overall protective effect of ARBs against lung, bladder and colorectal cancers was found. This beneficial response was time-dependent. These results can guide patients on treatment options and clinicians for informed decision-making.
-
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.
-
Cases of respiratory dysfunction due to phrenic nerve sacrifice during resection of massive mediastinal tumor have rarely been studied in detail. Diaphragmatic dysfunction in such cases can lead to potentially fatal respiratory and circulatory disturbances. Therefore, timely diagnosis and intervention are important. Conservative rehabilitation therapy is the first choice for respiratory dysfunction due to diaphragmatic dysfunction. ⋯ This study provides experiences of diagnosis and treatment of respiratory dysfunction due to phrenic nerve sacrifice during resection of massive mediastinal tumor. Timely diagnosis of diaphragmatic dysfunction primarily relies on clinical manifestations and radiography. Conservative rehabilitation therapy can improve or restore diaphragmatic function in majority of patients, and avert or delay the need for surgical intervention. Preoperative assessment of the risk of phrenic nerve involvement is important in such cases.
-
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.