Demonstration of Group-Level and Individual-Level Efficacy Using Time-to-Event Designs for Clinical Trials of Antiseizure Medications

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...

Associations of Internal Medicine Residency Milestone Ratings and Certification Examination Scores with Patient Outcomes

Associations of Internal Medicine Residency Milestone Ratings and Certification Examination Scores with Patient Outcomes

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...

A Comprehensive Overview of NF1 Mutations in Iranian Patients

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...

MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders

A New Differential Diagnosis Method Based on miRNA Background Introduction Neuromuscular Disorders (NMDs) are a class of chronic diseases that consistently progress to muscle atrophy. Although certain diseases such as Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Congenital Muscular Dystrophy (CMD), Limb-Girdle Muscular Dystro...

Effect of 2-week Naringin Supplementation on Neurogenesis and BDNF Levels in Ischemia–Reperfusion Model of Rats

Research Report on the Effects of Naringin Intervention on Newborn Neurons and BDNF Levels in Rat Brain Ischemia-Reperfusion Model Background With the global increase in cardiovascular diseases, ischemic stroke has gradually become a major cause of death and disability, affecting the quality of life of millions of people. Despite continuous advance...

miR206 and 423-3p are Differently Modulated in Fast and Slow-Progressing Amyotrophic Lateral Sclerosis Patients

Differential Regulation of miR206 and miR423-3p in Rapidly and Slowly Progressing Amyotrophic Lateral Sclerosis Patients This article was published in the 2024 issue of “Neuromolecular Medicine,” titled “Differential Regulation of miR206 and 423-3p in Rapidly and Slowly Progressing Amyotrophic Lateral Sclerosis (ALS) Patients.” The authors include ...

Probable Novel APP Met671Leu Mutation in a Chinese Han Family with Early-Onset Alzheimer’s Disease

A Study Exploring a New Mutation in Early-Onset Alzheimer’s Disease Alzheimer’s Disease (AD) is a common neurodegenerative disorder, accounting for 60-70% of all dementia cases. In recent years, with global population aging and environmental changes, the incidence of AD has been increasing annually. It is predicted that by 2050, the number of patie...

Lycium Barbarum Polysaccharides Improves Cognitive Functions in ICV-STZ-Induced Alzheimer’s Disease Mice Model by Improving the Synaptic Structural Plasticity and Regulating IRS1/PI3K/AKT Signaling Pathway

Study on the Improvement of Cognitive Function in ICV-STZ-Induced Alzheimer’s Disease Mouse Model by Lycium Barbarum Polysaccharides Research Background Alzheimer’s disease (AD) is the most common neurodegenerative disease of the central nervous system, characterized by progressive cognitive impairment, memory loss, personality changes, and emotion...

Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy

Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy

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...

Quality Assurance for Next-Generation Sequencing Diagnostics of Rare Neurological Diseases in the European Reference Network

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...