A5036652716- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Diet and metabolism studies
- Infectious Encephalopathies and Encephalitis
- Genomics and Rare Diseases
- Amino Acid Enzymes and Metabolism
- Bacterial Infections and Vaccines
- Genetics and Neurodevelopmental Disorders
- Vagus Nerve Stimulation Research
- IgG4-Related and Inflammatory Diseases
- Vestibular and auditory disorders
- Heart Rate Variability and Autonomic Control
- Cardiac tumors and thrombi
- RNA and protein synthesis mechanisms
- Immunodeficiency and Autoimmune Disorders
- Histiocytic Disorders and Treatments
- Metabolomics and Mass Spectrometry Studies
- RNA regulation and disease
- Neuroscience and Neural Engineering
- Congenital heart defects research
- Long-Term Effects of COVID-19
- Genetic and Kidney Cyst Diseases
- Neurological and metabolic disorders
- Pneumonia and Respiratory Infections
- Immune Cell Function and Interaction
Shenzhen Children's Hospital
2009-2025
China Medical University
2016-2020
Objective Epilepsy, a prevalent neurological disorder, has multifaceted etiologies. Next-generation sequencing (NGS) emerged as robust diagnostic tool for this condition. This study aims to evaluate the detection efficiencies of different exome-based techniques. Methods Exome-based epilepsy panel tests, clinical exome (CES), and whole (WES) were conducted on 259 pediatric patients diagnosed with epilepsy. Single-nucleotide variants (SNVs) copy number (CNVs) interpreted based each patient’s...
Abstract Background The ketogenic diet (KD) therapy is a primary treatment for drug-resistant epilepsy, and beta-hydroxybutyrate (BHB) the main ketone produced during KD. However, pattern of increase in BHB levels not well understood, reference range need to be defined. aim this study was evaluate first three months, especially one week, after KD initiation, explore physiological BHB. Methods In our study, fasting initiation strategy used majority patients (252/300, 84%) who underwent 24–48...
Streptococcus pneumoniae, a Gram-positive, human-specific commensal infectious pathogen, poses significant global health threat, especially in children under five, often resulting fatalities. The intricacies of the immune response pneumococcal meningitis (PM) remain elusive, necessitating meticulous examination cell subsets at single-cell resolution. In this study, we performed RNA sequencing peripheral blood mononuclear cells from PM patients and healthy individuals. We found relative...
Vagus nerve stimulation (VNS) is a safe and effective therapy for pediatric patients with drug-resistant epilepsy (DRE). However, in children DRE, the effects of VNS on autistic behaviors remain controversial. We retrospectively collected data from 10 DRE who underwent implantation regular parameter regulation three centers, completed behavioral assessments, including behavior checklist child checklist, at follow-ups 1 (mean 2.16 years) 2 2.98 years). The maintained stable seizure control...
To evaluate the retention rate, efficacy, and safety of ketogenic diet therapy for drug-resistant epilepsy in children compare results with those a previous cohort at our institution.A total 634 were included this retrospective study. Patients categorized into two groups. The was as control group 317 assessed between 2004 2011, whereas current 2015 2019. provided care usual, additionally adopted goal long-term management strategy. Outcomes measured respect to seizure reduction, adverse...
NUS1 is responsible for encoding of the Nogo-B receptor (NgBR), which a subunit cis-prenyltransferase. Over 25 variants in have been reported, and these found to be associated with various phenotypes, such as congenital disorders glycosylation (CDG) developmental epileptic encephalopathy (DEE). We report on case patient who presented language motor retardation, epilepsy, electroencephalogram abnormalities. Upon conducting whole-exome sequencing, we discovered novel pathogenic variant...
Objective: The etiology and outcome of status epilepticus with continuous epileptic spasms has not been clearly specified, only rare cases have reported in the literature. Here, we described 11 children various different who manifested spasms. Methods: This is a cohort study designed to review charts, video electroencephalography, magnetic resonance images, follow-up outcomes patients present lasting more than 30 minutes. Results: Median age at onset was two years, range 2 months 5.6 years....
Vagus nerve stimulation (VNS) is a neuromodulation therapy increasingly used for treating drug-resistant epilepsy. However, it remains to be determined which patients are best suited the treatment, and difficult predict therapeutic effect before implantation. Mutations in some genes could lead Here we report two cases of pediatric with epilepsy treated by VNS therapy: Patient 1 <italic>ARX</italic> mutation achieved good outcomes; 2 <italic>CDKL5</italic> did not show improvement....
To identify the characteristics of influenza-associated neurologic complications (INCs) in children from a recent H3N2 outbreak Shenzhen, China during COVID-19 lockdown.A retrospective cohort study INCs hospitalized with infection was conducted.From June 01, 2022 to July 2022, 513 were and 97 developed INCs. Of 18 patients encephalopathy/encephalitis, 13 previously healthy. Three acute necrotizing encephalopathy two died. 63 febrile seizures, 55 (87%) had simple seizures. 14 an exacerbation...
Objective:To identify the validity of five symptoms scoring sheet that based on patients who are suffering from benign paroxysmal positional vertigo(BPPV), and explore its effects significance in clinical diagnosis BPPV.Method:A total 484 with vertigo were included. All firstly assessed sheet(repeated transient or aggravating during looking up, bending, getting out bed, rolling over bed quick head movements) before being confirmed by Dix-Hallpike test test. Evaluating predictive ability this...
Objective To assess the efficacy and safety of two different protocols ketogenic diet （KD） -eating on demand or eating at regular intervals for refractory epilepsy in children. Methods Sixty children with were randomly divided into group （ n = 30） （n by random number table method. After taking whole amount KD, capillary blood ketone glucose level urine monitored every 6 hours 72 continuous hours. Seizure frequency onset time recorded. Antiepileptic tolerability groups evaluated 4 weeks, 12...
Ornithine transcarbamylase deficiency (OTCD) is an X-linked inherited disorder and characterized by marked elevation of blood ammonia. The goal treatment to minimize the neurological damage caused hyperammonemia. OTCD can be cured liver transplantation (LT). Post-transplant patients discontinue anti- hyperammonemia agents consume a regular diet without risk developing almost irreversible.An 11.7-year-old boy presented with headache, vomiting, altered consciousness. patient was diagnosed...
Abstract Streptococcus pneumoniae is a Gram-positive, human-specific commensal infectious pathogen that can lead to death worldwide, especially in children under five. A deeper understanding of the immune response pneumococcal meningitis (PM) has high scientific importance. In this study, we performed single-cell RNA sequencing peripheral blood mononuclear cells from PM patients and healthy individuals. Both platelets neutrophils were found with higher proportions group compared control...
Objective To explore the efficacy of ketogenic diet(KD) in treatment status epilepticus(SE) and whether KD could protect brain, propose a new thought on SE patients' reasonably individualized treatment, brain protection prognosis improvement. Methods From Sep 2013 to Jan 2015, all patients diagnosed as were advised apply treatment; who refused included control group, while accepted group.Based principles, group applied traditional anti-convulsive therapy, therapy combined with...
Objective To analyze the clinical manifestations of familial acute necrotizing encephalopathy (ANE) and to improve recognition this disease. Methods The data a 25-month-old girl with recurrent ANE evidence mutation in RANBP2 gene were collected analyzed, examination their family members was performed. Results A previously healthy experienced episodes at ages 8 months, 18 months 25 respectively.At each beginning patient presented lethargy tremor limbs following febrile illness...
Objective Despite numerous guidelines, the overall outcome of infantile spasms is poor, with only a small number patients being able to attend school. The purpose this study was investigate long-term outcomes. Patients had poor access recommended first-line anti-seizure medications (ASMs), such as hormones (corticotropin or prednisolone/prednisone) and vigabatrin, their alternative treatment other ASMs ketogenic diet. Methods suffering from who at least 2 years medical records in electronic...