- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Glycogen Storage Diseases and Myoclonus
- Obsessive-Compulsive Spectrum Disorders
- Dermatologic Treatments and Research
- Conflict of Laws and Jurisdiction
- Corporate Governance and Law
- RNA modifications and cancer
- Cystic Fibrosis Research Advances
- Pediatric Urology and Nephrology Studies
- Carcinogens and Genotoxicity Assessment
- Neurological diseases and metabolism
- Management of metastatic bone disease
- Cancer Diagnosis and Treatment
- Gastric Cancer Management and Outcomes
- Obesity, Physical Activity, Diet
- Venous Thromboembolism Diagnosis and Management
- Bone health and treatments
- Glutathione Transferases and Polymorphisms
- Urinary Tract Infections Management
- Genetic Syndromes and Imprinting
- Nutrition and Health in Aging
- RNA Research and Splicing
- Autism Spectrum Disorder Research
- Radiopharmaceutical Chemistry and Applications
Chinese PLA General Hospital
2023-2024
Chinese People’s Liberation Army 263 hospital
2023-2024
Chinese People's Liberation Army
2024
PLA Academy of Military Science
2024
Chinese Academy of Medical Sciences & Peking Union Medical College
2021
Hebei Medical University
2015
First Affiliated Hospital of Hebei Medical University
2015
Johns Hopkins Medicine
1978
Johns Hopkins University
1978
Several biallelic truncating and missense variants of the gem nuclear organelle-associated protein 5 (GEMIN5) gene have been reported to cause neurodevelopmental disorders characterized by cerebellar atrophy, intellectual disability, motor dysfunction. However, association between GEMIN5 early-infantile developmental epileptic encephalopathies (EIDEEs) has not reported.
The tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) Checklist is a reliable global screening tool for TAND in clinical settings, with six dimensions and 12 sections. For Chinese individuals TSC, the implementation of provides comprehensive approach to evaluating potential manifestations across various domains. Tuberous (TSC) genetic disorder characterized by abnormalities affecting organ systems, including skin, brain, kidneys, heart, lungs, eyes. It presents...
Gut microbiota plays an important role in tic disorders (TDs); however, clinical research on probiotics for chronic TDs treatment is lacking. We aimed to investigate the effectiveness of probiotics, hypothesizing that their efficacy comparable clonidine treating TDs.
Abstract Introduction NR2F1 pathogenetic variants are associated with the Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS). Recent studies indicate that BBSOAS patients not only have visual impairments but may also developmental delays, hypotonia, thin corpus callosum and epileptic seizures. However, reports of occurrence along infantile spasm (IESS) rare. Methods Here, we report three cases involving children IESS caused by de novo summarize genotype, clinical characteristics,...
目的 观察唑来膦酸联合化疗治疗非小细胞肺癌(NSCLC)骨转移的临床疗效。 方法 选取2014年8月至2015年8月收治的NSCLC骨转移患者60例,根据数字表法随机分为观察组与对照组,每组30例,对照组采用注射用盐酸吉西他滨联合顺铂治疗,观察组在此基础上联合唑来膦酸治疗。 结果 观察组患者疼痛缓解有效率为90.00 %(27/30),对照组为63.33 %(19/30),差异有统计学意义(P 0.05)。 结论 唑来膦酸联合化疗治疗NSCLC骨转移可有效降低患者的疼痛程度,改善活动能力,能很大程度地提高患者生命质量,值得临床进一步应用及推广。
Objective To evaluate the long-term effect of interstitial implantation radioactive iadine-125 (125Ⅰ) seeds as an adjunctive technique to radical resection in treatment cancer cardia. Methods From March 2001 Match 2003, one hundred and eighteen patients with cardia underwent our department. Fifty-seven (group A) were treated plus 125Ⅰ during surgery, 61 B) along. The rate 3-year 5-year survival, postoperative complications mortality compared between two groups. Results demographic data...
Objective To analyze the clinical charactaristics of acute symptomatic ureteropelvic junction obstruction (UPJO) in children, who present abdominal pain as primary symptom. Methods Retrospective analysis was performed children UPJO, claimed symptom our hospital from January 2009 to December 2016. Totally 48 cases were included.40 boys, 8 girls .38 dignosed left others right. The mean age 7.2y (range 2.0-15.6y). Most patients are school children. Renal ultrasonography repeated record...