A5101837439- RNA regulation and disease
- Gastroesophageal reflux and treatments
- Congenital Diaphragmatic Hernia Studies
- RNA modifications and cancer
- Esophageal and GI Pathology
- Pituitary Gland Disorders and Treatments
- Biochemical and Molecular Research
- RNA Interference and Gene Delivery
- Mitochondrial Function and Pathology
- Vascular Malformations and Hemangiomas
- Connexins and lens biology
- CRISPR and Genetic Engineering
- Amoebic Infections and Treatments
- Pediatric health and respiratory diseases
- Parasitic infections in humans and animals
- Growth Hormone and Insulin-like Growth Factors
- Intestinal and Peritoneal Adhesions
- Genetics and Neurodevelopmental Disorders
- Adrenal and Paraganglionic Tumors
- Medical Coding and Health Information
- Burn Injury Management and Outcomes
- Neuroinflammation and Neurodegeneration Mechanisms
- Congenital Anomalies and Fetal Surgery
- Disaster Response and Management
- Zoonotic diseases and public health
Peking University
2006-2023
Capital Medical University
2020-2023
Peking University First Hospital
2006-2023
People's Hospital of Xinjiang Uygur Autonomous Region
2011-2023
Weatherford College
2023
Beijing Anzhen Hospital
2023
Army Medical University
2021-2022
Xinqiao Hospital
2021-2022
Beijing Children’s Hospital
2020-2022
Southwest Hospital
2022
Purpose: Bladder cancer (BCa) is generally considered one of the most prevalent deadly diseases worldwide. Patients suffering from muscle-invasive bladder (MIBC) possess dismal prognoses, while those with non-muscle-invasive (NMIBC) have a favorable outcome after local treatment. However, some NMIBCs relapse and progress to MIBC, an unclarified mechanism. Hence, insight into genetic drivers BCa progression has tremendous potential benefits for precision therapeutics, risk stratification,...
Summary Aims Vanishing white matter disease (VWM) is an inherited leukoencephalopathy in children attributed to mutations EIF2B1–5, encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B). Although the defects are housekeeping genes, glial cells selectively involved VWM. Several studies have suggested that astrocytes central pathogenesis However, exact pathomechanism remains unknown, and no model for VWM induced pluripotent stem (iPSCs) has been established. Methods...
Abstract Introduction Leukoencephalopathy with vanishing white matter (VWM) is a rare autosomal recessive leukoencephalopathy resulting from mutations in EIF2B1‐5 , which encode subunits of eukaryotic translation initiation factor 2B (eIF2B). Studies have found that eIF2B mutation has certain influence on embryonic brain development. So far, the effect dynamic process development not fully understood yet. Aims Three‐dimensional organoid technology promoted study human nervous system...
CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis, and can be alternatively recycled from uridine. Trio whole-exome sequencing identified compound heterozygous mutations new male patient with global developmental delay (DD), refractory epilepsy, anemia anisopoikilocytosis. We further reviewed all published cases deficiency. Five patients were collected two publications, including three males females, presented DD, drug-resistant Four out of six (including the...
IBA57 is involved in the biogenesis of mitochondrial [ 4Fe‐4S ] proteins. Eighteen cases with mutations have been reported to date. We described a novel phenotype 11 children cavitating leukoencephalopathy and summarized phenotypic spectrum mutations. The median age onset was 9 months, an initial presentation motor regression. Deterioration neurological function reached its peak within 4 months. interval between last follow‐up 2.9 years (0.4‐10.0). All survived remained stable. Severe...
Acacetin (5,7-dihydroxy-4'-methoxyflavone), one of the main extractions from Saussurea involucrata, has anti-inflammatory effects. Our previous study found that acacetin inhibited Nod-like receptor pyrin domain containing 3 (NLRP3) signaling pathway after cerebral ischemia-reperfusion injury. NLRP3 inflammasome plays a role in Alzheimer's disease (AD) process. However, few studies have examined effects AD.We randomly divided APP swe/PS1dE9 double transgenic mice into group (intraperitoneal...
We present two unrelated Chinese patients with CAD deficiency manifesting a triad of infantile-onset psychomotor developmental delay regression, drug-refractory epilepsy, and anaemia anisopoikilocytosis. Timely translation into uridine supplementation, within 2-months disease onset, allowed us to stop conventional anti-epileptic drugs led dramatic improvement in the clinical symptoms, prompt cessation seizures, resolution anaemia, progress, prevention development severe non-reversible...
This study aims to evaluate the expression of interleukin 6 (IL-6) in patients with infantile hemangioma (IH) and investigate role IL-6/signal transducers activators transduction-3 (STAT3)/hypoxia-inducible factor-1α (HIF-1α) pathways progression IH. Serum samples were obtained from IH normal infants measure IL-6 expression. Hemangioma-derived stem cells (HemSCs) transfected small interfering RNA (siRNA) targeting IL-6, HIF-1α, or STAT3. Then, cell viability wound healing assays conducted....
To investigate the clinical characteristics and associated factors of colonic polyps in patients with acromegaly.Clinical colonoscopy findings 86 acromegaly who received treatment were retrospectively reviewed, correlation growth hormone (GH)-secreting pituitary adenoma (GHPA) volume hormonal/metabolic levels analyzed.The prevalence was 40.7% increased significantly advanced age, especially those ≥50 years. Multiple (62.8%) left colon (54.2%) detected more frequently. Compared to without...
Abstract The aim is to examine the prognostic value of N-terminal pro-brain natriuretic peptide (NT-proBNP) in patients with major burns and sepsis. We collected data burn who were admitted our department. compared age, sex, area, depth, length hospitalization, mortality rate between sepsis group non-sepsis NT-proBNP, procalcitonin (PCT), platelet count, Sequential Organ Failure Assessment (SOFA) score, quick SOFA (qSOFA) score survivors nonsurvivors group. Receiver operating characteristic...
To explore the treatment experience of neonatal hepatic hemangioma (HH) with intestinal obstruction. Case 1 was 2.5 kg at birth and 7 days old time visit. underwent surgery 2 weeks after birth, it confirmed that HH located in left inner lobe liver, adhered to ileocecal area form an acute angle, leading The obstruction significantly relieved. Postoperative pathology showed case had a congenital hemangioma. started breastfeeding 3 operation; bowel function well recovered, abdominal distension...
Purpose: Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive leukoencephalopathy caused by mutations in any of the five genes encoding subunits eukaryotic translation initiation factor 2B (eIF2B). The severity disease varies considerably, and its genotypic-phenotypic correlation still unclear. Age onset only independent clinical predictor for VWM severity. In this study, between genotype age at patients was investigated. Methods: Data were collected from available...
Objective: To summarize the clinical features of leukoencephalopathy with vanishing white matter disease (VWM) in children. Methods: A retrospective cohort study was performed on 54 genetically diagnosed VWM patients Peking University First Hospital from January 2007 to March 2019. Paper registration form and electronic medical record system were used collect data,and children divided into five groups according age onset:<1 year, 1-<2 years, 2-<4 4-<8 years 8-<18 respectively. The...
Objective To evaluate the safety and application value of laparoscopic surgery for hepatic cystic echinococcosis in children. Methods Clinical data 15 children with undergoing People's Hospital Xinjiang Uigur Autonomous Region from January 2013 to September 2017 were retrospectively analyzed. The informed consents all patients obtained local ethical committee approval was received. Among them, 10 male 5 female, aged 3-12 years a median age 8 years. Nine single 6 multiple...
Objective To investigate the clinical features of glucose transporter 1 deficiency syndrome(GLUT1-DS) and summarize characteristics GLUT1-DS through reviewing related references. Methods The data including manifestation, cerebrospinal fluid(CSF) glucose, electroencephalogram, MRI gene mutation a patient with was collected literatures were reviewed. Results The 6 years old boy.The patient, whose seizures occurred at age 9 month-old prolonged to year-old, attacked before...
Woodhouse-Sakati syndrome (WSS, MIM 241080) is a rare neuroendocrine disease characterized by hair loss, hypogonadism, diabetes, hearing and extrapyramidal syndrome, usually caused mutations in the DCAF17 gene as an inherited disease. plays important role mammalian gonadal development infertility. So far, there have been no WSS reports China. The patient introduced this case from consanguineous family. main symptoms of were alopecia agenesis. Other such intellectual disability, hyperglycemia...