A5103030689- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Diet and metabolism studies
- Pharmacological Effects and Toxicity Studies
- Genomic variations and chromosomal abnormalities
- Bacterial Infections and Vaccines
- RNA modifications and cancer
- Digestive system and related health
- Infectious Encephalopathies and Encephalitis
- Neonatal and fetal brain pathology
- Neurogenetic and Muscular Disorders Research
- Pneumonia and Respiratory Infections
- Congenital heart defects research
- Glycogen Storage Diseases and Myoclonus
- Muscle Physiology and Disorders
- Congenital Anomalies and Fetal Surgery
- RNA regulation and disease
- Head and Neck Anomalies
- Neurological Complications and Syndromes
- Pain Management and Treatment
- EEG and Brain-Computer Interfaces
- Bacterial biofilms and quorum sensing
- Connective Tissue Growth Factor Research
Jiangxi Provincial Children's Hospital
2014-2025
Union Hospital
2023-2025
Jilin University
2024-2025
Affiliated Hospital of Jiangxi University of Traditional Chinese Medicine
2025
California State Polytechnic University
2023
California Polytechnic State University
2023
Humboldt State University
2023
Huazhong University of Science and Technology
2023
Nanchang University
2020-2022
New York State Office for People With Developmental Disabilities
1993
Abstract Background Nusinersen was the first approved disease modifying therapy (DMT) for spinal muscular atrophy (SMA). Intrathecal administration of nusinersen enables drug delivery directly to central nervous system, where motor neurons are located. Per package insert, individuals with SMA receive 4 loading doses followed by maintenance every months thereafter. The aim this analysis investigate practices and adherence in Chinese children SMA. Methods Data were analyzed from a...
Abstract Genetic factors play a major role in the etiology of epilepsy disorders. Recent genomics studies using next generation sequencing (NGS) technique have identified large number genetic variants including copy (CNV) and single nucleotide variant (SNV) small set genes from individuals with epilepsy. These discoveries contributed significantly to evaluate clinic lay foundation develop molecular specific treatment. However, basis for majority patients remains elusive, furthermore, most...
To evaluate the effectiveness and safety of nusinersen for treatment 5q-spinal muscular atrophy (SMA) among Chinese pediatric patients.
To explore the clinical characteristics and etiology of bacterial meningitis (BM) in Chinese children.BM cases children 28days to 18 years old were collected from January 2014-December 2016 screened according World Health Organization standards. Clinical features, pathogens, resistance patterns analyzed.Overall, 837 classified into five age groups: 28 days-2 months (17.0%), 3-11 (27.8%), 12-35 (24.0%), 3-6 (13.9%), >6years (17.3%). Major pathogens Streptococcus pneumoniae (S. pneumoniae,...
Abstract Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions. We launched a nationwide study to determine the frequency of CMD in Chinese population assess status diagnosis disease management for China. Cases were chosen from databases 34 tertiary academic hospitals 29 first‐level administrative divisions (provinces, municipalities, autonomous regions, special regions), medical records reviewed confirm diagnoses. The included 409 patients, those...
The ketogenic diet (KD) is increasingly used to treat drug-resistant epilepsy because of its favorable effect on seizure reduction. Patients with mitochondrial diseases tend experience seizures. Therefore, this study aimed test the efficacy KD participants in a controlled trial.Participants from fourteen clinical centers who were diagnosed disease semi-randomized either intervention or control group. group followed 3-month intervention, while received 1-month normal initially and then...
To review a rare case of lateral neck mass pathologically confirmed as an encapsulated papillary thyroid carcinoma in our center for complementing the lack management cases, and to explore differentiation primary ectopic metastatic disease context presence malignant tumors within situ gland. We searched studies on cancer compare analyze it with gland terms clinical features, imaging manifestations, pathological features at molecular level, treatment principles. Based available data, we...
Fibrosis in the extracellular matrix of nucleus pulposus (NP) is associated with intervertebral disc degeneration (IVDD). Both connective tissue growth factor (CTGF) and vascular endothelial (VEGF)-A are responsible for pathological basis NP fibrosis. Our study aims to verify interaction between CTGF VEGF-A a vitro cell model. Collected human tissues different degree isolated cells from non-degenerated tissues. Analysed gene expression naturally degenerated IL-1β-induced cells. Additionally,...
ABSTRACT Background The obscurin protein encoded by the OBSCN gene is an important structural in regulation of myocyte sarcoplasmic nodule stability and reticulum function particularly closely associated with calcium ion (Ca 2+ ) signaling. With increasing genomic studies, pathogenic variants have been shown to be a variety inherited diseases, such as cardiomyopathy. However, case reports its causing rhabdomyolysis are more limited. Methods We performed whole exome sequencing on patient...
Guanine-nucleotide exchange is the reaction that controls activation of H-ras p21. This stimulated by guanine-nucleotide factor. In this study we show p21 harboring guanine ring binding domain (the conserved NKXD motif) mutations, such as N116I or K117E, are potent inhibitors promoted SDC25C (Saccharomyces cerevisiae SDC25 C-domain gene product), a The inhibition due to formation stable but catalytically inactive complex consisting mutant and SDC25C. By examining interaction v-H-ras(N116I)...
Bone metabolism can be influenced by a range of factors. We selected children with self-limited epilepsy centrotemporal spikes (SeLECTS) and lifestyles similar to those healthy control for the confounding factors that may influence bone metabolism. aimed identify specific effects and/or anti-seizure medications (ASMs) on metabolism.Patients SeLECTS were divided into an untreated group monotherapy group, third was group. determined levels various biochemical markers metabolism, including...
Objective Febrile seizure (FS) is the most common form of childhood disorders. FS perhaps one frequent causes admittance to pediatric emergency wards worldwide. We aimed identify a new, safe, and effective therapy for preventing recurrence. Methods A total 115 children with history two or more episodes were randomly assigned levetiracetam (LEV) control (LEV/control ratio = 2:1) groups. At onset fever, LEV group was orally administered dose 15–30 mg/kg per day twice daily 1 week. Thereafter,...
Background Reversible splenial lesion syndrome (RESLES) is a new clinico-radiological syndrome. We retrospectively analyzed the clinical features of 130 children with RESLES in China, which largest case series available literature. Methods The data diagnosed as Jiangxi Provincial Children's Hospital between 2017 and 2023 were analyzed. cases divided into two groups: ≤ 3 years old group (group A) ( n = 83) > B) 47). chi-squared test or Fisher's was used to evaluate data. Results vast...
Abstract Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological dysfunction, due primarily to mutations in ERCC6 ERCC8. Here, we report our diagnostic experience for two patients a Chinese family suspected on clinical grounds have syndrome. Using multiple molecular techniques, including whole exome sequencing, array comparative genomic hybridization quantitative polymerase chain reaction, identified compound...
Chromosomal duplication at the Xq28 region including gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 syndrome. The typical features include infantile hypotonia , mild dysmorphic features, broad range of neurodevelopmental disorders, recurrent infections, progressive spasticity. This Chinese syndrome family includes six patients (five males one female), four asymptomatic female carriers. Two kinds chips 4x180K CNV + SNP chip custom 8x60K were used to...
Abstract Background Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare, inherited disorder that causes epilepsy, intellectual disorders, and early onset macrocephaly. MLC1 has been identified as main pathogenic gene. Methods Clinical data such magnetic resonance imaging (MRI), routine blood tests, physical examinations were collected from proband. Trio whole‐exome sequencing (WES) of the family was performed, all variants minor allele frequency (<0.01) in exon...
The BCL11A gene is involved in disorders including intellectual disability syndrome (IDS), encodes a zinc finger protein highly expressed haematopoietic and brain acts as transcriptional repressor of foetal haemoglobin (HbF). De novo variants have been associated with IDS, which characterized by developmental delays, autism spectrum disorder (ASD) speech language delays. reports are still limited worldwide, additional cases needed to expand the variant phenotype spectrums.