A5078884567- Genetics and Neurodevelopmental Disorders
- interferon and immune responses
- Genomics and Rare Diseases
- RNA modifications and cancer
- Peptidase Inhibition and Analysis
- Inflammasome and immune disorders
- Protein Tyrosine Phosphatases
- Viral Infections and Immunology Research
- Cancer-related gene regulation
- Cytokine Signaling Pathways and Interactions
- Ion channel regulation and function
- Immunodeficiency and Autoimmune Disorders
- Cardiac electrophysiology and arrhythmias
- Genetic Neurodegenerative Diseases
- Congenital heart defects research
- Autoimmune Neurological Disorders and Treatments
- Cytomegalovirus and herpesvirus research
- Genomic variations and chromosomal abnormalities
Children's Hospital of Zhejiang University
2010-2025
National Clinical Research
2023
The clinical phenotypes of myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) have been found to overlap with several other diseases. new criteria proposed in 2023 were designed better identify the but require validation across various populations ascertain its utility. We aimed investigate diagnostic performance phenotypically diverse patients. This multicenter study retrospectively included adult and pediatric patients who hospitalized for a first suspected...
Early and accurate identification of pathogens is essential for improved outcomes in patients with viral encephalitis (VE) and/or meningitis (VM).In our research, Metagenomic next-generation sequencing (mNGS) which can identify unbiasedly was performed on RNA DNA to potential cerebrospinal fluid (CSF) samples from 50 pediatric suspected VEs VMs. Then we proteomics analysis the 14 HEV-positive CSF another 12 health controls (HCs). A supervised partial least squaresdiscriminant (PLS-DA)...
Myotonia congenita (MC) is a genetic disease characterized by mutations in the muscle chloride channel gene (CLCN1). To date, approximately 130 different on CLCN1 have been identified. However, most of studies focused Caucasians, and reports Chinese population are rare. This study investigated mutation two families with MC. Direct sequencing revealed heterozygous (892G>A, resulting A298T) one family compound (782A>G, Y261C; 1679T>C, M560T) other family, None 100 normal controls had these...
Myelin oligodendrocyte glycoprotein (MOG) antibody-associated disease (MOGAD) is an autoimmune demyelinating disorder of the central nervous system. Extracted proteins from 34 cerebrospinal fluid (CSF) samples [patients with MOGAD (MOG group, n = 12); healthy controls (HC patients MOG seronegative and metagenomics next-generation sequencing-negative inflammatory neurological diseases (IND 10)] were processed subjected to label-free quantitative proteomics. Supervised partial least...
Abstract Background Heterozygous duplication within the ATAD3 gene cluster can cause autosomal dominant chromosome 1p36.33 syndrome, a rare and fatal multisystemic disorder, characterized by lethal perinatal cardiomyopathy, persistent hyperlactacidemia, corneal clouding or cataracts, resulting in death first weeks of life. Methods Herein, we report case 4-month, 27-day-old Chinese boy with only epilepsy hyperlactacidemia who died at 6 months 17 days epilepsia partialis continua. The...