Dysfunctional spectrum associated with clinical phenotype expansion in SCN2A-related disorders This paper was written by scholars including Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J. E. Kaiser, Katherine Paltell, Amanda N. Nili, Jean-Marc L. Dekeyser, Tatiana V. Abramova, Gerry Nesbitt, Shawn ...
Parkinson’s Disease Variant Detection and Disclosure: Comprehensive Report Background Parkinson’s Disease (PD) is a progressive neurodegenerative disorder primarily characterized by motor dysfunction and non-motor symptoms. Research has shown that at least seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7, VPS35) are directly related to the occurr...
Academic Report The incidence of global Invasive Fungal Infections (IFIs) has increased over the past few decades, primarily affecting immunocompromised patients, and these infections are often associated with high mortality and morbidity rates. Aspergillus fumigatus is one of the most common and deadly IFI pathogens. The main obstacles to effectiv...
High sensitivity of high-throughput metagenomic sequencing in colon tissue biopsies: Eliminating the impact of host DNA Background Evaluating bacterial taxonomic structure through next-generation sequencing without culturing has become a common method for studying the relationship between bacterial imbalance and various diseases. Previous studies h...
Time-Dependent Multi-Omics Integration in Sepsis-Associated Liver Dysfunction Introduction Sepsis, especially severe cases, causes multiple organ dysfunction due to systemic infection, resulting in up to 5 million deaths globally each year. Traditionally, Sepsis-Associated Liver Dysfunction (SALD) was considered a condition accompanied by jaundice ...
Background Pancreatic Ductal Adenocarcinoma (PDAC) is a malignancy with a highly immunosuppressive tumor microenvironment (TME), showing strong resistance to immune checkpoint blockade (ICB) therapies, such as anti-PD-1 and anti-CTLA-4 treatments. Myeloid-Derived Suppressor Cells (MDSCs) derived from tumors play a critical role in tumor immune supp...
Research Report Background Overview Traumatic Brain Injury (TBI) is one of the leading causes of permanent disability and death worldwide. These disorders are dynamic and evolving, involving progressive brain injury and pathophysiological changes accompanied by multi-system damage. The severity of TBI is typically assessed using the Glasgow Coma Sc...
Time-to-Event Design in Clinical Trials and Efficacy of Anti-Epileptic Drugs at Group and Individual Levels Background The significance of anti-epileptic drugs (ASM) in treating refractory epilepsy cannot be ignored. However, the current parallel assignment, randomized, placebo-controlled trial (RCT) designs have been in use for many years, requiri...
Association Between Milestone Ratings and Certification Exam Scores of Medical Residents and Patient Outcomes Background In the United States, the education and competency assessment of internal medicine residents are primarily conducted through two methods: the Milestone assessment system and the American Board of Internal Medicine (ABIM) certific...
Comprehensive Overview of Mutations in Neurofibromatosis Type 1 Among Iranian Patients Neurofibromatosis type 1 (NF1) is a hereditary disease caused by mutations in the NF1 gene, characterized by almost complete penetrance and high phenotypic variability. This study aims to identify NF1 mutations in Iranian patients using whole-genome exome sequenc...