Actionability and Familial Uptake Following Opportunistic Genomic Screening in a Pediatric Cancer Cohort

Medicine, Pediatrics, Psychiatry, Oncology, Cardiovascular System, Life Sciences, Genetics,
Opportunistic Genomic Screening   Familial Uptake   Pediatric Cancer   Medical Actionability   Cascade Testing   Genetic Counseling  

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 ...

Identification of People with Lynch Syndrome from Those Presenting with Colorectal Cancer in England: Baseline Analysis of the Diagnostic Pathway

Medicine, Oncology, Cardiovascular System,
Lynch Syndrome   Colorectal Cancer   Molecular Diagnostics   National Health Service   England   DNA Mismatch Repair  

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...

Mutations of Gemin5 Associated with Coenzyme Q10 Deficiency: Long-Term Follow-Up After Treatment

Medicine, Cardiovascular System, Life Sciences, Genetics,
Gemin5 mutations   Coenzyme Q10 deficiency   Neurological improvement   MRI abnormalities   Whole exome sequencing   Biosynthesis decrease   Oral CoQ10 treatment  

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...

Causative Study of Ehlers-Danlos Syndrome with Prominent Vascular Features

Medicine, Cardiovascular System, Life Sciences, Genetics,
Genetics   Connective Tissue Disorder   Vascular Fragility   THBS2 Gene Mutation   CRISPR/Cas9 Mouse Model  

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 Plasma Kallikrein Inhibition Fosters Post-Stroke Recovery by Reducing Thrombo-Inflammation

Medicine, Neurology, Cardiovascular System,
thrombo-inflammation   thrombosis   ischemic stroke   recovery   subacute   plasma kallikrein   kallikrein-kinin system  

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...

Efficient Deep Learning-Based Automated Diagnosis from Echocardiography with Contrastive Self-Supervised Learning

Information Science, Computer Science, Artificial Intelligence, Medicine, Medical Imaging, Cardiovascular System,
deep learning   self-supervised learning   contrastive learning   echocardiography   automated diagnosis   left ventricular hypertrophy   aortic stenosis  

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...