EEG-Guided Anesthesia and Delirium in Elderly Patients After Cardiac Surgery Research Background Delirium is a common postoperative complication in elderly patients, particularly after cardiac surgery. Delirium not only leads to cognitive decline but also increases hospitalization time and medical costs. Current preventive measures are limited in e...
Rheumatic Heart Disease Mortality Risk Factors Mortality and Incidence of Rheumatic Heart Disease in Adults Research Background Rheumatic heart disease (RHD) causes over 300,000 deaths annually, primarily in low- and middle-income countries (LMICs). Due to a lack of high-quality epidemiological data, understanding of the incidence and mortality of ...
Effects of Chronic Hypertension on Mitochondrial Energy Metabolism in the Cerebral Cortex of Normal and Spontaneously Hypertensive Rats Background Introduction Chronic hypertension has destructive structural and functional consequences for cerebral vessels and brain parenchyma. Hypertension impairs cerebrovascular autoregulation (Ferrari & Villa, 2...
Phenotypic Correlation Study of RAF1:c.770C>T p.(Ser257Leu) Variant in Noonan Syndrome Patients Academic Background Noonan syndrome (NS) is one of the most common RASopathies, primarily caused by the upregulation of RAS protein and mitogen-activated protein kinase (MAPK) signaling pathways. These disorders are characterized by facial dysmorphism, c...
Perinatal onset of mitochondrial CoQ10 deficiency due to COQ7 defect with cardiomyopathy and gastrointestinal obstruction Background Coenzyme Q10 (CoQ10) is a lipid-soluble molecule with antioxidant properties and a key component in electron transfer during oxidative phosphorylation in mitochondria. CoQ10 deficiency is a rare mitochondrial metaboli...
Effectiveness of European-derived Cardiometabolic Polygenic Scores in Multi-ancestral Populations In recent years, Polygenic Scores (PGS) have received widespread attention as a tool for assessing individual genetic risk. However, most existing PGS are based on Genome-Wide Association Studies (GWAS) data from white European populations. This has le...
Clinical Impact of Pharmacogenomic Testing on Antiplatelet Therapy Background Pharmacogenomics (PGx) is changing the use of P2Y12 inhibitors (antiplatelet drugs), which are widely used in the treatment of acute coronary syndrome (ACS), neurovascular problems, and vascular diseases. Among them, clopidogrel is a commonly used P2Y12 inhibitor. This pr...
Pathological Study of a New ACTA2 Mutation Causing Aortic Aneurysm: Validation Using a Yeast Model Research Background Thoracic aortic aneurysm and dissection (TAAD) is a potentially fatal vascular disease with mechanisms that are still not fully understood. The ACTA2 gene encodes α-smooth muscle actin, a key component of the vascular smooth muscle...
Feasibility Study of Opportunistic Genomic Screening in Pediatric Cancer Patients and Its Family Acceptance Research Background With the development and application of genomic medicine, the care for patients with severe diseases is gradually being optimized. Especially in the field of childhood cancer, whole-genome series DNA testing has become an ...
Analysis of Lynch Syndrome Diagnostic Pathway Introduction Lynch Syndrome (LS) is a hereditary cancer susceptibility syndrome that primarily leads to the occurrence of colorectal cancer (CRC), endometrial cancer, and several other types of cancer. Although the incidence of Lynch Syndrome among cancer patients and its importance to public health hav...