Neuromolecular Medical Research on Hereditary Leukodystrophy - A Research Report on the Discovery of a Novel ARSA Gene Mutation Research Background Hereditary leukodystrophies are a group of genetic disorders primarily affecting the white matter of the central nervous system. They encompass a wide range of conditions, mainly caused by enzyme defici...

Application of Quality Assurance in Future Advanced Sequencing Diagnostics Background Over the past decade, Next-Generation Sequencing (NGS) has made revolutionary progress in the diagnosis of Rare Neurological Diseases (RNDs). However, the lack of technical, interpretative, and reporting standards has posed challenges in ensuring consistent and hi...

Limitations of Next-Generation Sequencing-Based Genotyping for Breast Cancer Polygenic Risk Score Loci Background Introduction In the prediction of hereditary Breast Cancer (BC), Polygenic Risk Scores (PRSs) are increasingly being used as an important tool for individual risk prediction. The calculation of PRS relies on accurately reproducing varia...

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...

Discovery of the Recessive Effect of Human Polymerase δ Proofreading Deficiency: Through Mutation Analysis of Normal Cells and Cancer Cells with POLD1 Mutations Background Introduction The disruption of DNA repair is one of the main mechanisms leading to hereditary cancer. Heterozygous pathogenic variants in the exonic regions of POLD1 and POLE aff...

Framework for Evaluation and Reporting of Incidental Findings in Clinical Genome Sequencing Research Background In current clinical practice, clinical genome sequencing (CGS) is gradually becoming an important means for diagnosing rare genetic diseases. However, incidental findings (IFs) are often encountered in genome sequencing, which are unexpec...

DNA Methylation Characteristics for Recognizing Mowat-Wilson Syndrome Background Mowat-Wilson syndrome (MOWS) is a rare neurodevelopmental disorder caused by heterozygous deletions or loss-of-function mutations in the ZEB2 gene. This gene encodes a transcription factor involved in neural development. Individuals with MOWS often present with moderat...

Brain-Derived Exosomal Circular RNAs in Plasma as Diagnostic Biomarkers for Acute Ischemic Stroke Acute ischemic stroke (AIS), commonly known as stroke, is a serious condition characterized by interrupted blood flow to the brain, resulting in tissue damage and neurological deficits. Early diagnosis is crucial for effective intervention and manageme...

Association Study of Perioperative IL8 and IL18 Levels with Brain Basal Ganglia Atrophy Three Months After Surgery Background In recent years, an increasing number of studies have shown that surgical procedures may accelerate brain atrophy. Meanwhile, the relationship between systemic inflammation and neurodegenerative diseases has also received co...

Research Report: Neutrophils Disrupt B-1a Cell Homeostasis by Targeting Siglec-G, Exacerbating Sepsis Background Sepsis is a life-threatening organ dysfunction caused by a dysregulated immune response to infection. The immune system dysfunction accompanying sepsis is primarily triggered by pathogen-associated molecular patterns (PAMPs) and damage-a...