Tianjin Childrens Hospital
Tianjin Childrens Hospital
Yang J.,Tianjin Childrens Hospital
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics | Year: 2016
C1q nephropathy is a rare type of glomerulonephritis manifested as the deposition of C1q in the glomerular mesangium during immunofluorescent staining. Systemic lupus erythematosus and type I membranoproliferative glomerulonephropathy need to be excluded in the diagnosis of C1q nephropathy. C1q nephropathy has various manifestations under a light microscope, mainly including minimal change disease, focal segmental glomerulosclerosis, and proliferative glomerulonephritis. This disease is mainly manifested as persistent proteinuria or nephrotic syndrome and occurs more frequently in boys. Currently, glucocorticoids are mainly used for the treatment of this disease. Patients with C1q nephropathy show a good response to immunosuppressant treatment, but have a high rate of glucocorticoid resistance. Therefore, in this case, methylprednisolone pulse therapy or a combination with immunosuppressant treatment helps to achieve a good prognosis.
Shu J.,Tianjin Childrens Hospital
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | Year: 2017
OBJECTIVE: To detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency.METHODS: Genomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing.RESULTS: The proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls.CONCLUSION: The novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.
Hu X.-L.,Tsinghua University |
Wang Y.,Tianjin Childrens Hospital |
Shen Q.,Tsinghua University
Protein and Cell | Year: 2012
Derived from neural stem cells (NSCs) and progenitor cells originated from the neuroectoderm, the nervous system presents an unprecedented degree of cellular diversity, interwoven to ensure correct connections for propagating information and responding to environmental cues. NSCs and progenitor cells must integrate cell-intrinsic programs and environmental cues to achieve production of appropriate types of neurons and glia at appropriate times and places during development. These developmental dynamics are reflected in changes in gene expression, which is regulated by transcription factors and at the epigenetic level. From early commitment of neural lineage to functional plasticity in terminal differentiated neurons, epigenetic regulation is involved in every step of neural development. Here we focus on the recent advance in our understanding of epigenetic regulation on orderly generation of diverse neural cell types in the mammalian nervous system, an important aspect of neural development and regenerative medicine. © 2012 Higher Education Press and Springer-Verlag Berlin Heidelberg.
Cai C.,Tianjin Childrens Hospital |
Shi O.,Tianjin Medical University
Frontiers of Medicine in China | Year: 2014
Neural tube defects (NTDs) are a group of birth anomalies having a profound physical, emotional, and financial effects on families and communities. Their etiology is complex, involving environmental and genetic factors that interact to modulate the incidence and severity of the developing phenotype. The planar cell polarity (PCP) pathway controls the process of convergent extension (CE) during gastrulation and neural tube closure and has been implicated in the pathogenesis of NTDs in animal models and human cohorts. This review summarizes the cumulative results of recent studies on PCP signaling pathway and human NTDs. These results demonstrate that PCP gene alterations contribute to the etiology of human NTDs. © 2014 Higher Education Press and Springer-Verlag Berlin Heidelberg.
Li C.W.,Tianjin Childrens Hospital
Zhonghua er ke za zhi. Chinese journal of pediatrics | Year: 2010
To study the clinical features of Reiter's syndrome (RS) in children. Twenty-two patients with RS were referred to our department between August 2002 and September 2008. Their clinical features were analyzed retrospectively. Of the 22 patients, 19 were male, only 3 were female. Age ranged from 4 to 14 years, and the average was 10.7 years, most patients (20/22) were older than eight. Among their relatives, 2 had ankylosing spondylitis, 4 had undifferentiated spondyloarthropathy or presented with a history of inflammatory low back pain, and 2 had psoriasis. The season of onset of all patients was summer months from June to September every year. Ten had a history of diarrhea within 1 month preceding the symptoms of arthritis. Twenty-one had fever at the onset. Conjunctivitis occurred in 20 patients, only one was complicated with uveitis. Urethral symptoms occurred in 12 patients, and another 3 patients had abnormal results of urine analysis only. Synovitis occurred in all cases, most of whom had oligoarthritis, predominantly affecting large joints of the lower limbs in an asymmetric pattern with enthesitis occurred in 9. Balanitis circinata was common in male patients (10/19). Elevated inflammatory indicators such as white blood cell, neutrophil, platelet, erythrocyte sedimentation rate, C-reactive protein, immunoglobulins and serum complement C3 were common during the acute illness. All of the 22 cases were negative for rheumatoid factor and 16 (72.7%) were HLA-B27 positive. Nonsteroidal anti-inflammatory drugs and sulfasalazine were the mainstay of treatment. Cyclophosphamide was used in 14 patients (total doses 0.6 - 2.0 g), in 4 cases methotrexate was added. Corticosteroids were added in 4 patients and cyclosporine was given to the patient complicated with uveitis. Most patients achieved full remission within 6 months. RS is common in children with clinical features different from those in adults and a relatively good prognosis.
Cai C.,Tianjin Childrens Hospital |
Cai C.,Tianjin Medical University |
Shi O.,Tianjin Medical University |
Li W.-D.,Tianjin Medical University
Parkinsonism and Related Disorders | Year: 2013
Paroxysmal kinesigenic dyskinesia is an autosomal dominant dystonia induced by sudden voluntary movements. Recently, proline-rich transmembrane protein 2 (PRRT2) gene mutations, especially frameshift mutations, were described for PKD. In our study, we have collected a three-generation paroxysmal kinesigenic dyskinesia-infantile convulsions pedigree in Tianjin, North China. The symptoms of six patients varied; age of onset decreased in each generation. Mutations in the PRRT2 gene in nine PKD family members were screened by PCR sequencing of genomic DNA samples. Missense mutations of the PRRT2 gene were found in all four PKD patients and two children with infantile convulsions. All six individuals carried heterozygous codon 138 (Pro/Ala) and codon 306 (Ala/Asp) mutations. Missense mutations of the PRRT2 gene other than truncate and frameshift mutations were account for PKD and/or infantile convulsions. Age of onset and symptoms were not necessarily associated with PRRT2 mutations. © 2012 Elsevier Ltd.
Ji Y.-X.,Tianjin Childrens Hospital |
Zhang H.-Y.,Tianjin Childrens Hospital |
Lin S.-X.,Tianjin Childrens Hospital
Chinese Journal of Contemporary Pediatrics | Year: 2013
Objective To study the association of FCGR2A gene single nucleotide polymorphism (SNP) rsl801274 with Kawasaki disease (KD) susceptibility and the efficacy of intravenous immunoglobulin (IVIG) therapy in Han Chinese children. Methods Thirty-five KD children and 25 age-and gender-matched healthy children ( control group) were enrolled in the study. Polymerase chain reaction ( PCR) and gene sequence analysis were applied to detect SNP of FCGR2A gene rsl801274. These KD patients were classified into two subgroups based on the presence of coronary artery lesion (CAL) following IVIG therapy: CAL (n = 13) and non-CAL (n = 22). Results FCGR2A gene SNP rsl801274 was detected in all subjects, including three genotypes (AA, AG and GG). For FCGR2A gene SNP rsl801274, there were significant differences in the genotype and allele frequencies between the KD and control groups (P <0.05) , and significant differences in the genotype and allele frequencies were also found between the CAL and non-CAL subgroups (P <0.05). A allele and AA genotype were linked to an increased risk of KD susceptibility ( A allele: OR = 3. 39, 95% CI; 1. 53-7. 50; AA genotype: Ofi=4.93 , 95%C/:1.61-15.1). Both AG (Ofi=5.43, 95% CI; 1. 06-27. 8) and G allele (Ofi=4.88, 95%C/:1.44-16.5) were linked to an increased risk of CAL in KD children. Conclusions Polymorphism of the FCGR2A gene SNP rsl 801274 is one of the important factors probably influencing susceptibility to KD and efficacy of IVIG therapy on KD in Han Chinese children.
Ning J.,Tianjin Childrens Hospital
Tropical Doctor | Year: 2014
The clinical characteristics and treatments of severe influenza A (H1N1) in infected children were discussed and analysed. We found that such severe cases predominantly manifested respiratory symptoms; symptoms affecting the nervous system are also rare but dangerous. The clinical data of eight children with severe influenza A (H1N1) were analysed retrospectively. These children generally manifested fever and flu-like symptoms, short-term aggravation with dyspnoea. One case exhibited neurological symptoms. After continuous positive airway pressure and immunological regulation were administered, the clinical symptoms gradually improved. Patients with severe influenza A (H1N1) manifested respiratory tract symptoms. Those exhibiting neurological symptoms were seriously affected. Physical signs were regularly monitored and laboratory examination was conducted in order to determine the causes of severe illness. The treatments were adjusted accordingly. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.
Gong R.,Tianjin Medical University |
Li S.,Tianjin Childrens Hospital
International Journal of Nanomedicine | Year: 2014
With the rapid development of molecular biology and the life sciences, magnetic extraction is a simple, automatic, and highly efficient method for separating biological mole cules, performing immunoassays, and other applications. Human blood is an ideal source of human genomic DNA. Extracting genomic DNA by traditional methods is time-consuming, and phenol and chloroform are toxic reagents that endanger health. Therefore, it is necessary to find a more convenient and efficient method for obtaining human genomic DNA. In this study, we developed urea-formaldehyde resin magnetic microspheres and magnetic silica microspheres for extraction of human genomic DNA. First, a magnetic microsphere suspension was prepared and used to extract genomic DNA from fresh whole blood, frozen blood, dried blood, and trace blood. Second, DNA content and purity were measured by agarose electrophoresis and ultraviolet spectrophotometry. The human genomic DNA extracted from whole blood was then subjected to polymerase chain reaction analysis to further confirm its quality. The results of this study lay a good foundation for future research and development of a high-throughput and rapid extraction method for extracting genomic DNA from various types of blood samples. © 2014 Gong and Li.
Shu J.B.,Tianjin Childrens Hospital
Zhonghua er ke za zhi. Chinese journal of pediatrics | Year: 2013
The aim of this study was to explore the genetic features of a family with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) which may provide the basis for the diagnosis and genetic counseling. Clinical data of the proband was collected, total RNA and genomic DNA were extracted from the peripheral blood. The whole coding region of the ACAT1 gene was amplified by RT-PCR. 5' noncoding region of the ACAT1 gene and all 6 exons and flanking intron regions of the HADH2 gene were amplified by PCR. All amplification products were directly sequenced and compared with the reference sequence. (1) The patient was a one-year-old boy who presented with psychomotor retardation and astasia when he was admitted to the hospital. Biochemical test revealed slight hyperlactatemia (3.19 mmol/L) and magnetic resonance imaging showed delayed myelination. 2-Methylacetoacetyl-CoA thiolase deficiency was suggested by gas chromatography-mass spectrometry. (2) There was no mutation in the ACAT1 gene and a hemizygous missense mutation c.388C > T was found in the 4 exon of the HADH2 gene which resulted in p. R130C. Proband's mother was the heterozygote and the father was normal. This is the first report on MHBDD patient and HADH2 mutation in China. p.R130C is responsible for the pathogenesis of the disease in the infant.