A5101826359- Tuberous Sclerosis Complex Research
- Advanced MRI Techniques and Applications
- Epilepsy research and treatment
- Atomic and Subatomic Physics Research
- Polyomavirus and related diseases
- Tumors and Oncological Cases
- Metabolism and Genetic Disorders
- Functional Brain Connectivity Studies
- EEG and Brain-Computer Interfaces
- Genetics and Neurodevelopmental Disorders
- Renal cell carcinoma treatment
- Histiocytic Disorders and Treatments
- Medical Imaging and Pathology Studies
- Diet and metabolism studies
- Fetal and Pediatric Neurological Disorders
- Medical Imaging Techniques and Applications
- Radiomics and Machine Learning in Medical Imaging
- Genomics and Rare Diseases
- Hedgehog Signaling Pathway Studies
- Glioma Diagnosis and Treatment
- Sepsis Diagnosis and Treatment
- Neonatal and fetal brain pathology
- Nuclear Structure and Function
- Genetic and Kidney Cyst Diseases
- Brain Tumor Detection and Classification
Shenzhen Children's Hospital
2017-2025
China Medical University
2025
Boston Children's Hospital
2023
Hebei Medical University
2022
Fourth Hospital of Hebei Medical University
2022
Shantou University
2019
First Affiliated Hospital of Jinan University
2017
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...
<h3>BACKGROUND AND PURPOSE:</h3> Highly predictive markers of drug treatment outcomes tuberous sclerosis complex–related epilepsy are a key unmet clinical need. The objective this study was to identify meaningful and radiomic predictors in patients with complex. <h3>MATERIALS METHODS:</h3> A total 105 children were enrolled retrospective study. pretreatment baseline that used predict included patient demographic information, gene data, electroencephalogram features extracted from MR imaging...
Tuberous sclerosis complex (TSC) is a multi-system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% do not TSC1/TSC2 detected on routine clinical testing. We investigated the contribution of low-level mosaic unsolved sporadic and families with TSC. Thirty-one TSC negative testing eight suspected parental mosaicism were sequenced using deep panel sequencing followed by droplet digital polymerase chain reaction. Pathogenic variants found 22/31 (71%)...
<h3>BACKGROUND AND PURPOSE:</h3> Tuberous sclerosis complex disease is a rare, multisystem genetic disease, but appropriate drug treatment allows many pediatric patients to have positive outcomes. The purpose of this study was predict the effectiveness antiseizure medication in children with tuberous complex–related epilepsy. <h3>MATERIALS METHODS:</h3> We conducted retrospective involving 300 included analysis clinical data and T2WI FLAIR images. consisted sex, age onset, at imaging,...
Progressive myoclonic epilepsy (PME) is a group of rare diseases characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME has high genetic heterogeneity, more than 40 genes are reportedly associated with this disorder. SEMA6B encodes member the semaphorin family was first reported to cause in 2020. Herein, we present case due novel gene mutation 6-year-old boy born healthy non-consanguineous Chinese parents. His developmental milestones were...
To establish the experts consensus on right heart function management in critically ill patients. The panel of was composed 30 critical care medicine who are all members Critical Hemodynamic Therapy Collaboration Group (CHTC Group). Each statement assessed based GRADE (Grading Recommendations Assessment, Development, and Evaluation) principle. Then Delphi method adopted by 52 to reassess statements. (1) Right is prone be affected illness, which will result a auto-exaggerated vicious cycle....
Compressed Sensing (CS) and parallel imaging are two promising techniques that accelerate the MRI acquisition process. Combining these is of great interest due to complementary information used in each. In this study, we proposed a novel reconstruction framework effectively combined compressed sensing nonlinear technique for dynamic cardiac imaging. Specifically, method decouples process into sequential steps: first step, series aliased images were reconstructed from highly undersampled...
Multi-contrast magnetic resonance imaging (MRI) is wildly applied to identify tuberous sclerosis complex (TSC) children in a clinic. In this work, deep convolutional neural network with multi-contrast MRI proposed diagnose pediatric TSC. Firstly, by combining T2W and FLAIR images, new synthesis modality named
Parallel magnetic resonance imaging (MRI) technique is able to accelerate MRI speed for reducing costs and enhancing patient's comfortability. can be categorized into two types: image-based k-space-based methods. For parallel MRI, missing k-space data reconstructed by interpolating existing acquired with appropriate coefficients, which generally considered as a linear process. However, noise cannot suppressed or removed during the reconstruction process therefore image often suffers serious...
Objective: To delineate the comprehensive clinical features of anti-GQ1b antibody syndrome in childhood. Methods: The data children diagnosed with at two Chinese tertiary pediatric neurology centers were collected and analyzed. We also conducted a systematic literature review on children. Results: This study included 78 syndrome, consisting 12 previously unreported cases from centers. median onset age was 10 years (range, 2–18 years). most common phenotype acute ophthalmoparesis (32%),...
Identifying rare tuberous sclerosis complex (TSC) children is valuable and crucial. Magnetic resonance imaging (MRI) used for TSC diagnoses. In this work, T2w FLAIR were combined as a new modality named FLAIR3 to maximize the contrast between lesions normal-appearing brain tissues. After that, first time, we propose use two different 3D CNN with late fusion strategies diagnose TSC. A total of 520 enrolled in study, including 260 health children. The experiments had shown that could...
In Magnetic Resonance (MR) parallel imaging with virtual channel-expanded Wave encoding, limitations are imposed on the ability to comprehensively and accurately characterize background phase. These primarily attributed calibration process relying solely center low-frequency Auto-Calibration Signals (ACS) data for calibration.
Tuberous sclerosis is a multi-system disorder caused by mutations in either
Tuberous sclerosis complex (TSC) manifests as a multisystem disorder with significant neurological implications. This study addresses the critical need for robust classification models tailored to TSC in pediatric patients, introducing QResNet,a novel deep learning model seamlessly integrating conventional convolutional neural networks quantum networks. The incorporates two-layer layer (QL), comprising ZZFeatureMap and Ansatz layers, strategically designed processing classical data within...
Motivation: This study seeks to address the challenge of limited visibility periventricular lesions in Tuberous Sclerosis Complex (TSC). Goal(s): Develop FLAIR3, a deep neural network, for adaptive fusion T2w and FLAIR images TSC patients improve lesion detection. Approach: The adopts dual-stream U-Net network with pre-fusion module employs spatial channel weight feature fusion. Gradient loss segmentation annotations are utilized generate clear textures improved contrast. Results: fused...
Epilepsy drug treatment outcome prediction is valuable for the process of children with tuberous sclerosis complex. In this paper, three common feature selection methods and six machine learning models are used to predict epilepsy outcomes multi-modality data in The analysis variance F-value selecting 35 features combined multilayer perceptron achieves best area-under-curve score (95% confidence interval) 0.812 (± 0.005), which shows feasibility using treatments. Then, effectiveness lesion...
Neuropsychological evidence revealed language impairment in children with benign epilepsy centrotemporal spikes (BECTS). This study investigates function using task-activated fMRI.We conducted a task fMRI on three groups 3.0T MRI scanner, including new onset drug naïve group (NODN-BECTS, n=11, age=9.6±1.6), an established medication-treated (Med-BECTS, n=17, age=10.7±2.2) and healthy control (HC, n=18, age=10.8±1.7). We use MATLAB14 SPM12 to pre-process analyze the data. A one-sample t-test...