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...

Gemin5 Gene Mutation-Related Coenzyme Q10 Deficiency: Long-term Follow-up After Treatment Background Gemin5 is a highly conserved multifunctional protein that mainly functions in assembling small RNA-protein complexes in the cytoplasm and participates in the splicing process of pre-mRNA to generate mature mRNA. Previous studies have reported a seri...

Heterozygous THBS2 Pathogenic Variants Cause Ehlers-Danlos Syndrome with Prominent Vascular Features in Humans and Mice Paper Background Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders caused by mutations in collagen and collagen-related genes. These disorders present in various forms and can be classified into 14 different t...

Delayed Inhibition of Plasma Kallikrein Promotes Stroke Recovery: By Reducing Thromboinflammation Academic Background Stroke is a common neurovascular event affecting over 60 million patients worldwide annually. Current treatments for cerebral ischemia are limited to thrombolysis and mechanical thrombectomy, which are constrained by the feasibility...

Breakthrough in Automated Echocardiogram Diagnosis via Deep Learning: A Comparative Study of Self-Supervised Learning Methods Research Background With the rapid development of artificial intelligence and machine learning technologies, their role in medical imaging diagnosis is becoming increasingly significant. In particular, Self-Supervised Learni...

In the global context, the prevalence of obesity is on the rise, bringing significant impacts to public health. Obesity is independently associated with the incidence and mortality of cardiovascular diseases, with an estimated economic burden exceeding $200 billion annually for healthcare systems. In recent years, glucagon-like peptide-1 (GLP-1) re...

Precision Imaging of Cardiac Function and Infarct Scar Size: A Study with Ultrahigh-Field MRI in Acute and Chronic Porcine Models of Myocardial Infarction Research Background Cardiac magnetic resonance imaging (MRI) is an accurate and highly reproducible technique for assessing cardiac function and volume. In recent years, ultrahigh-field (UHF) MRI...

Age-dependent loss of HAPLN1 erodes vascular integrity via indirect upregulation of endothelial ICAM1 in melanoma In a research article titled “Age-dependent loss of HAPLN1 erodes vascular integrity via indirect upregulation of endothelial ICAM1 in melanoma” published in Nature Aging in March 2024, significant findings have been revealed. The study...