A5024405110- Osteomyelitis and Bone Disorders Research
- Inflammasome and immune disorders
- Blood disorders and treatments
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Vasculitis and related conditions
- Medical Imaging and Pathology Studies
- Lymphoma Diagnosis and Treatment
- Pulmonary Hypertension Research and Treatments
- Viral-associated cancers and disorders
- Pneumocystis jirovecii pneumonia detection and treatment
- Diagnosis and treatment of tuberculosis
- Autoimmune and Inflammatory Disorders
- Peptidase Inhibition and Analysis
- RNA regulation and disease
- Autoimmune and Inflammatory Disorders Research
- Cystic Fibrosis Research Advances
- Mycobacterium research and diagnosis
- Glycosylation and Glycoproteins Research
- Oral Health Pathology and Treatment
- Tuberculosis Research and Epidemiology
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Eosinophilic Disorders and Syndromes
- Genetic and rare skin diseases.
- Infectious Diseases and Tuberculosis
Beijing Children’s Hospital
2016-2023
Capital Medical University
2019-2023
Capital University
2023
China Aerospace Science and Industry Corporation (China)
2023
A multicenter study was performed to evaluate the value of testing gastric aspirate (GA) with Xpert MTB/RIF Ultra assay (Ultra) for childhood tuberculosis (TB) detection in China. In total, 129 children active TB and 173 without were enrolled. The sensitivity bacteriologically confirmed probable cases 87.5% (42/48) 44.4% (36/81), respectively. specificity high (99.4%, 172/173). When Ultra, culture, acid-fast bacilli outcomes integrated as a composite reference standard, percentage definite...
Abstract Background Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The starts during infancy with recurrent relapses of osteomyelitis typically associated fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations the LPIN2 gene located on short arm chromosome 18 have been identified as being responsible for syndrome. Case presentation We report an 8-month-old boy, who presented mild to moderate anemia,...
Abstract Background Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the size, breakpoints and genes deleted. Critical like FOXG1 , NKX2 –1, PAX9 were identified. Case presentation We performed whole exome sequencing (WES) copy number variation (CNV-seq) for patient with mild speech motor developmental delay, short stature, recurrent pulmonary infections, tooth agenesis triad of brain-lung-thyroid syndrome. By using...
The high clinical and genetic heterogeneity makes it difficult to reach a confirmative diagnosis of suspected pediatric respiratory inherited diseases. Many patients with monogenic disorders could be missed without testing. We performed single-center study in Beijing Children's Hospital demonstrate the utility exome sequencing (ES) as first-tier test by evaluating diagnostic yields ES for diseases symptoms. A total 107 were recruited this study. identified 51 pathogenic or likely variants 37...
Abstract Background: Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The starts during infancy with recurrent relapses of osteomyelitis typically associated fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations the LPIN2 gene located on short arm chromosome 18 have been identified as being responsible for syndrome. Case presentation: We report an 8-month-old boy, who presented mild to moderate anemia,...
目的 总结EB病毒(EBV)感染相关肺部淋巴组织增生性疾病的特点，提高对该疾病的认识。 方法 总结分析2009年3月至2015年10月于首都医科大学附属北京儿童医院诊断EBV感染相关肺部淋巴组织增生性疾病2例的临床特点。 结果 2名男童，就诊年龄分别为7岁4个月和5岁，病程分别为1.5年和2个月余。2例患儿均有间断发热、肝大，1例伴腹痛。2例患儿EBV衣壳抗原免疫球蛋白G抗体(EBV－CA－IgG)、EBV核抗原免疫球蛋白G抗体(EBV－NA－IgG)均阳性。2例血液中EBV－DNA均为阳性。1例临床诊断为慢性活动性EBV感染，其肺高分辨率计算机体层X线摄影术显示为弥散性小结节影和磨玻璃影，肺组织病理为EBV阳性T细胞淋巴组织增生疾病，病情迁延，经更昔洛韦及免疫球蛋白治疗肺内结节影吸收，随访5年反复出现肝脾大，血EBV－DNA阳性。另1例发热持续病史超过2个月，肝肋下2 cm，肺内多发性大结节影，经抗感染和免疫球蛋白治疗，病情仍持续进展，肺组织病理为淋巴瘤样肉芽肿。 结论 儿童EBV感染可以引起肺部淋巴组织增生性疾病。抗病毒治疗效果不满意，预后均不佳。
Abstract Objective To explore the prognosis of children with idiopathic pulmonary hemosiderosis (IPH) after long-term maintenance glucocorticoid therapy. Methods This ambidirectional observational study included IPH admitted to Department Respiratory, Beijing Children’s Hospital, Capital Medical University, between January 2010 and July 2021. Their clinical characteristics were collected from medical records during follow-up. Results A total 211 (88 males,123 females, age onset: 3.42...
The etiology of diffuse alveolar hemorrhage (DAH) in childhood is often unknown, and it may be an early manifestation rheumatic disease. Juvenile idiopathic arthritis (JIA) one the most common diseases children, but DAH as onset JIA rare. This study summarizes clinical characteristics patients with presenting DAH.We retrospectively analyzed age onset, manifestations, imaging features, treatments, prognosis five cases DAH.Themedian at was 6 months (range, 2 months-3 years). Pallor (5/5)....
Abstract Background Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The starts during infancy with recurrent relapses of osteomyelitis typically associated fever, congenital dyserythropoietic anemia (CDA) and often neutrophilic dermatosis. Mutations the LPIN2 gene located on short arm chromosome 18 have been identified as being responsible for syndrome. Case presentation We report 8-month old boy, who presented mild to moderate severe...
Abstract Background: Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The starts during infancy with recurrent relapses of osteomyelitis typically associated fever, congenital dyserythropoietic anemia (CDA), and often neutrophilic dermatosis. Mutations the LPIN2 gene located on short arm chromosome 18 have been identified as being responsible for syndrome. Case presentation: We report an 8-month-old boy, who presented mild to moderate anemia,...