A5101935014- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Ubiquitin and proteasome pathways
- Infectious Encephalopathies and Encephalitis
- Autoimmune and Inflammatory Disorders Research
- Autoimmune Neurological Disorders and Treatments
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- Connexins and lens biology
- Bacterial Infections and Vaccines
- Viral Infections and Immunology Research
- Parvovirus B19 Infection Studies
- Epilepsy research and treatment
- Peripheral Neuropathies and Disorders
- 14-3-3 protein interactions
- Adolescent and Pediatric Healthcare
- Macrophage Migration Inhibitory Factor
- Neonatal Respiratory Health Research
- Genomics and Rare Diseases
- Complement system in diseases
- Retinal Development and Disorders
- Moyamoya disease diagnosis and treatment
- Congenital Ear and Nasal Anomalies
- Hereditary Neurological Disorders
- RNA and protein synthesis mechanisms
Qingdao University
2017-2024
Affiliated Hospital of Qingdao University
2017-2024
Central South University
2018
Peking University First Hospital
2014-2016
Peking University
2014-2016
Background: This study was to evaluate the use of virtual planning and 3D printing modeling in mandibular reconstruction compare operation time surgical outcome this technique with conventional method.Material Methods: Between 2014 2017, 15 patients underwent vascularized fibula flap using modeling.Titanium plates were pre-bent models cutting guides used for osteotomies.15 who without aid selected as control group.The recorded compared two groups.Accuracy measured by superimposing...
Abstract Background S econdary hemophagocytic lymphohistiocytosis (HLH) is a rare hyperinflammatory syndrome that requires prompt diagnosis and appropriate treatment. A risk-stratification model could be used to identify high-risk pediatric patients with HLH who should considered for second-line therapies, including salvage regimens allogeneic hematopoietic cell transplantation (HCT), was developed. Methods The medical records of 88 (median age 1.4 years, range 0.2–15 years) non-malignancy...
Abstract Background Acute bulbar palsy-plus (ABPp) syndrome is an unusual variant of Guillain-Barré (GBS). Anti-GT1a and anti-GQ1b antibodies have been reported in patients with ABPp, but without reports related to GD3 antibodies. Methods Clinical data a patient diagnosed as ABPp were reviewed clinically. And we summarized the GBS ABP facial paralysis literature. Results We 13-year-old girl presented asymmetric bifacial weakness, palsy transient limb numbness, had positive serum IgG anti-GD3...
Abstract Background Respiratory syncytial virus (RSV) is a major cause of acute lower respiratory infections in children, especially bronchiolitis. Our study aimed to identify the key genes and upstream transcription factors RSV. Methods To screen for RSV pathogenic genes, an integrated analysis was performed using microarray dataset GEO. Functional annotation potential pathways differentially expressed (DEGs) were further explored by GO KEGG enrichment analysis. We constructed RSV-specific...
Ferredoxin reductase (FDXR), located in 17q25.1, encodes for a mitochondrial NADPH: adrenodoxin oxidoreductase or ferredoxin reductase, the sole human involved biosynthesis of iron-sulfur (Fe-S) clusters and heme formation. Iron-sulfur are enzymatic catalysis, gene expression, DNA replication repair. Variants FDXR lead to sensorial neuropathies, damage optic, auditory neurons. Here, we report Chinese boy with hearing loss, visual impairment, motor retardation, two novel compound heterozygous...
Nonsuicidal Self-Injury (NSSI) in China has increasingly interested clinicians, although few studies have investigated its risk and protective factors. This study examined the factors of NSSI among Chinese adolescents.The researchers recruited adolescent participants with from a hospital outpatient clinic to form case group adolescents without who provided informed consent school control group. Participants completed questionnaire, data were analyzed using logistic regression.A total 138...
Defects of WW domain‐containing oxidoreductase (WWOX) has been associated with autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early‐onset epileptic encephalopathy. The mutations in this gene can lead to global developmental delay, acquired microcephaly, epilepsy. We report an infant Whole exome sequencing analysis was applied the patient. Novel compound heterozygous WWOX gene, c.173‐2A > G c.775 T C (p.Ser259Pro), were identified. present study expands our...
With the rapid development of genetic detection technology, especially next-generation sequencing, identification aetiology unexplained intellectual disabilities accompanied by seizures and other dysmorphic features has become possible. The purpose our paper is to make a definitive diagnosis girl with neonatal hypotonia, severe global developmental delay, mild facial dysmorphism.The clinical data patient were retrospectively studied. Whole-exome sequencing was performed on blood sample from...
Abstract Background Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) has been reported worldwidely. However, the data about recurrent cases is limited. We aimed to analyze clinical and radiographic features of MERS, its possible mechanisms. Case presentation Two patients clinically MERS were here, exhibiting neurological symptoms such as limbs weakness numbness, stand/walk unsteadily, slurred speech irritability, typical lesions in corpus callosum white matter. One...
Abstract Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of severe disorders that characterized by early-onset, refractory seizures developmental slowing or regression. Genetic variations significant causes these changes. De novo variants in an increasing number candidate genes have been found to be causal. The YWHAG gene is one such has reported cause encephalopathy 56 (DEE56). Here, we report heterozygous missense variant, c.170G > A (p.R57H),...
Abstract Purpose To investigate the clinical features, imaging and prognosis of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) in children Methods The data cohort 28 diagnosed as MERS from January 2019 to October 2020 were retrospectively analyzed Results Of patients, 17 males 11 females. onset age ranged 8 months 12 years old, an average 4 2 months. All developed normally before onset, three them had history febrile convulsion. More than half patients (62.9%)...
患儿 女，2岁，自1岁3月龄开始反复出现癫痫持续状态发作，合并发作性偏瘫，运动、语言发育落后，小头畸形，颅脑CT示特征性颅内钙化，病初颅脑磁共振成像未见明显异常，多次癫痫持续状态发作后可见脑萎缩。予丙戊酸钠、托吡酯联合抗癫痫发作治疗，随访至2岁6月龄患儿未再有癫痫发作，肢体肌力基本恢复基线水平。家系全外显子测序检出CLDN5基因变异：c.178G>A（p.Gly60Arg）（NM_001363066.2），为新发变异，线粒体环基因检测结果为阴性。.
<title>Abstract</title> <bold>Background:</bold> Anti-IgLON5 encephalitis was a rare neurological and heterogeneous disorder, which mainly found in adults. Epileptic seizures related to anti-IgLON5 disease were rarely reported. <bold>Methods: </bold>The autoimmune encephalitis-related antibodies serum cerebrospinal fluid (CSF) tested using Cell-Based Assays (CBA) with immunofluorescence double staining. The further confirmed by Tissue-Based Assay (TBA) rat brain kidney tissue (1:100)....
Anti-IgLON5 encephalitis was a rare neurological and heterogeneous disorder, which mainly found in adults. Epileptic seizures related to anti-IgLON5 disease were rarely reported.
Nuclear protein of the testis (NUT) carcinoma is a rare and highly aggressive malignancy characterized by rearrangement NUT midline family member 1 (NUTM1) gene. Nevertheless, standardized strategies for its diagnosis treatment remain unavailable, underscoring need expert consensus. To address this gap, we conducted systematic review to gather comprehensive information on from five databases: PubMed, Web Science, Embase, Cochrane Library, Ovid Medline. This consensus was collaboratively...
Cyclin-dependent kinase-like 5 (CDKL5) is a protein kinase that homologous to mitogen-activated kinases (MAPKs) and cyclin-dependent (CDKs). Mutations in the CDKL5 gene cause X-linked infantile spasms phenotypes overlap with of Rett syndrome, which neurodevelopmental disorder caused primarily by mutations methyl CpG binding 2 (MECP2). Previous studies transfected cell lines showed interacts MeCP2 DNA (cytosine-5)-methyltransferase 1 (Dnmt1). However, little known about relationships...