2.Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria.
Bi-zhen ZHU ; Peng LI ; Jian-ping HUANG
Chinese Journal of Pediatrics 2010;48(5):329-333
OBJECTIVETo analyze the clinical features and gene mutations of 6 Chinese children with Dent's disease.
METHODThe clinical and laboratory data of 6 children with Dent's disease were summarized. CLCN5 gene was analyzed using PCR amplification and DNA sequencing.
RESULTAll the six patients presented with low molecular weight proteinuria and hypercalciuria, including 3/6 hematuria, 4/6 nephrocalcinosis, 3/6 hypophosphatemia, 1/6 rickets. Six mutations of the CLCN5 gene were revealed, including L594fsX595, R637X, R467X, IVS4-2A > G, S244L and V505G. The mutation L594fsX595, IVS4-2A > G and V505G was never reported before.
CONCLUSIONLow molecular weight proteinuria and hypercalciuria were the main clinical features of the six Chinese boys with Dent's disease. Dent's disease could be associated with a Bartter-like syndrome, which make the gene diagnosis more important.
Adolescent ; Child ; Child, Preschool ; Chloride Channels ; genetics ; Dent Disease ; complications ; diagnosis ; genetics ; Humans ; Hypercalciuria ; diagnosis ; genetics ; Male ; Mutation ; Pedigree ; Proteinuria ; diagnosis ; etiology ; genetics
3.The therapeutic effects of low frequency ultrasound enhanced thrombolysis on acute cerebral infarction in rats
Jian-Zhong BI ; Hong-Xia YANG ; Zhao-Hong XIE ; Zheng-Yu ZHU ; Xiao-Yun WANG ; Zhen LIU ;
Chinese Journal of Physical Medicine and Rehabilitation 2003;0(12):-
Objective To observe the therapeutic effects of low frequency ultrasound enhanced thrombolysis (LFUET) on acute cerebral infarction (ACI) in rats.Methods The ACI animal models were established by injec- ting auto-thrombus into the rats' left middle cerebral arteries.They were then treated with urokinase,and received transcranial LFUET treatment at the same time.Nervous system functioning was assessed using NSS,and infarct vol- umes (IVs) were measured through tetrazolium chloride (TTC) staining.Results The NSS scores in the large- dose urokinase group (LDU group),the ultrasound plus small-dose urokinase group (USMU group) and in the in- farct group (Ⅰgroup) at 24 h after treatment were significantly lower than those before treatment.IVs in the two treat- ment groups are lower than those in theⅠgroup,but there was no significant difference between the LDU group and USMU group volumes.Conclusion LFUET can accelerate the recovery of nervous system function in rats after ACI,minimize IVs,and reduce the required dosage of urokinase.
4.Loss of p53 gene and amplification of HER-2 oncogene in primary hepatocellular carcinoma and their clinical significance.
Bi-jun HUANG ; Zhen-yu ZHU ; Qi-wan LIANG ; Yan FANG
Chinese Journal of Pathology 2003;32(1):20-24
OBJECTIVETo investigate the deletion of p53 gene and amplification of HER-2 oncogene at chromosome 17 in primary hepatocellular carcinoma (HCC) and the clinical significance.
METHODSInterphase dual fluorescence in situ hybridization (FISH) was applied to detect the ratio of the number of p53 gene copy or HER-2 oncogene copy to that of chromosome 17 copy, to determine the p53 gene deletion and HER-2 oncogene amplification in nuclei prepared from 42 surgical specimens of HCC. Statistical analysis for their clinical significance was performed.
RESULTSLoss of p53 gene and amplification of HER-2 oncogene were detected in 27 (64.3%) and 9 (21.4%) of the 42 HCC respectively including 4 cases with low and 5 with high copy amplification. Six (14.3%) of 42 HCC showed simultaneously p53 gene deletion and HER-2 oncogene amplification. 61.9% (26/42) of HCC were polysomy 17, which correlated positively with p53 gene deletion (chi(2) = 12.286, P < 0.001). No close correlation between p53 gene loss and HER-2 oncogene amplification was found (chi(2) = 0.00, P = 1.00). Loss of p53 gene was related to the serum alpha-fetoprotein (AFP) level and the tumor size (P < 0.05). The postoperative 2-year survival rate (18.5%) of HCC patients with p53 gene deletion was significantly lower than postoperative 2-year survival rate (60.0%) of those without p53 gene loss (chi(2) = 7.467, P = 0.006). Meanwhile, HER-2 oncogene amplification showed a tendency of correlation with the tumor size (chi(2) = 2.973, P = 0.085), and the postoperative 2-year survival rate (0/9) of HCC patients with HER-2 oncogene amplification was significantly lower than those (42.4%) without HER-2 oncogene amplification (chi(2) = 3.977, P = 0.046).
CONCLUSIONThere were a high frequency of p53 gene deletion and a low frequency of HER-2 oncogene amplification in primary HCC, which might be involved in initiation and development of a subset of primary HCC.
Adult ; Carcinoma, Hepatocellular ; genetics ; pathology ; Chromosomes, Human, Pair 17 ; Female ; Gene Amplification ; Gene Deletion ; Genes, erbB-2 ; Genes, p53 ; Humans ; In Situ Hybridization, Fluorescence ; Liver Neoplasms ; genetics ; pathology ; Male ; Middle Aged ; Polyploidy ; Survival Rate ; alpha-Fetoproteins ; metabolism
5.Ecology suitability study of Lomatogonium rotatum in Inner Mongolia.
Zhen-hua LI ; Ai-hua ZHANG ; Xiao-hua YUN ; Chun-hong ZHANG ; Shou-dong ZHU ; De-zhi ZOU ; Ya-qiong BI ; Min-hui LI
China Journal of Chinese Materia Medica 2015;40(5):778-784
The distribution information of Lomatogonium rotatum. was collected by interview investigation and field survey, and 55 related environmental factors were collected, the habitat suitability study was conducted based on geographic information system (GIS) and maximum entropy model. The AUCs of ROC curve were both above 0.99, indicating that the predictive results with the maximum model were highly precise. The results showed that 13 major environmental factors have obvious influence on ecology suitability distributions of L. rotatum, including month average temperature of February et al., the suitable distribution areas are mainly concentrated in the east-central of Inner Mongolia, including Hexigten banner, Duolun county, Zhenglan banner et al., The zoning results basically coincide with the genuine producing areas, and further afford new suitable distribution areas, which can provide reference for L. rotatum's wild nursery and the siting of introduction and cultivation.
China
;
Ecosystem
;
Environment
;
Gentianaceae
;
growth & development
;
Geographic Information Systems
;
Rain
;
Temperature
6.Clinicopathological feature and treatment of idiopathic membranous nephropathy in children.
Xia WANG ; Jian-Ping HUANG ; Bi-Zhen ZHU ; Yong YAO ; Hui-Jie XIAO
Chinese Journal of Pediatrics 2011;49(4):311-315
OBJECTIVETo investigate the clinicopathological feature and treatment of idiopathic membranous nephropathy (IMN) in children.
METHODA retrospective analysis of 25 cases of biopsy-proven IMN seen between January 2004 and December 2009.
RESULTThe incidence of IMN was 3.81% in all the children patients who underwent renal biopsy. Of 25 patients with IMN, nine were boys and sixteen were girls. The mean age at onset was (9.4 ± 3.4) years with a range of 2 - 14 years. Renal biopsies were performed at a median 2.5 months (range 0.4 - 11 months) after onset. The clinical manifestations included nephrotic syndrome (NS) nephritic type in 21 cases (84%) and glomerulonephritis in 4 cases. All patients presented with hematuria, and 7 had macroscopic hematuria. Hypertension was noted in 4 patients. Two patients were complicated with thrombosis. One patient was in a chronic renal insufficiency(CRI)state. According to the MN staging criteria, 21 cases were in stage II IMN (84%). Six patients showed moderate or severe tubulointerstitial lesion. Focal segmental glomerulosclerosis (FSGS) was found in two patients. Of the 22 patients with NS and nephrotic proteinuria, 21 cases were treated with prednisone initially and in 20 of them the efficacy of corticosteroid therapy was evaluated:one of them was steroid sensitive (became steroid-resistant after relapse) and all the others were steroid-resistant (95%). The subsequent treatment: eight of them were treated with prednisone followed by a taper to alternate-day therapy. Five of them had complete remission and three partial remission. Twelve cases were treated with combined therapy of prednisone and immunosuppressive agents. Of these 12 cases together with one case who received initially combined treatment with prednisone and immunosuppressive agent and one case treated with prednisone initially for five weeks then with combined therapy contained another immunosuppressive agent, totally 14 cases, 5 had complete remission, 2 partial remission, 3 did not achieve remission, and 3 had unknown response.
CONCLUSIONOf the patient cohort, the predominant presenting feature was nephrotic syndrome, and with different degree hematuria. Almost all of them were steroid resistant, but followed by a taper to alternate-day therapy, some could achieve remission. The effect of a combination of prednisone and immunosuppressive agent is needed to be further proven in children.
Adolescent ; Child ; Child, Preschool ; Female ; Glomerulonephritis, Membranous ; pathology ; therapy ; Humans ; Male ; Nephrotic Syndrome ; pathology ; therapy ; Retrospective Studies
7.Analysis of the incidence and mortality trend of breast cancer in Chinese women from 2005 to 2013
Ming-yan HE ; Bi-qi ZHU ; Yuan ZHONG ; Lei WANG ; Liu YANG ; Xian-zhen LIAO ; Wei-qing RANG
Chinese Journal of Disease Control & Prevention 2019;23(1):10-14
Objective To Analyze the change trend of the incidence and mortality of breast cancer in Chinese women from 2005 to 2013 in the Chinese Cancer Registry Annual Report in order to provide references for the implement of the prophylaxis and treatment of breast cancer. Methods Extracted all the records of the incidence and mortality of breast cancer in Chinese women from 2005 to 2013, applied the Joinpoint regression model to analyze the change trend of the incidence and mortality of breast cancer in Chinese women. Results The incidence levels of breast cancer among urban women in China was higher than that in rural from 2005 to 2013, the change trend of urban incidence was stable(t=-0.2, P=0.828), the rural incidence showed an increasing trend(t=7.8, P<0.001). The peaks of urban and rural incidence were in the age group of 50- and the age group of 45- respectively.The mortality of breast cancer among urban women in China was higher than that in rural from 2005 to 2013, the change trend of urban mortality was stable(t=0.8, P=0.458), and the rising trend of rural mortality was obvious(t=3.3, P=0.014). The mortality of urban women began to rise after the age of 30, accelerating to rise after the age of 75, the mortality of rural women began to rise after the age of 30, the change tended to be stable at the age of 55-69, and began to rise after the age of 70 again. Conclusions The incidence and mortality of breast cancer among urban women in China were all higher than that in rural from 2005 to 2013, the rising trend of the incidence and mortality of breast cancer among rural women was obvious, so the prophylaxis and treatment measures of breast cancer should be actively formulated and perfected.
8.Effects of 1-bromopropane exposure on cognitive function in rats.
Zhi-Xia ZHONG ; Jing-Jing CHEN ; Ye BI ; Tao ZENG ; Zhen-Ping ZHU ; Xiu-Qin ZHANG ; Xiao-Ying HAN ; Ke-Qin XIE ; Xiu-Lan ZHAO
Chinese Journal of Industrial Hygiene and Occupational Diseases 2011;29(8):593-596
OBJECTIVETo study the effects of 1-bromopropane (1-BP) on the functions of learning-memory and the central cholinergic system in rats.
METHODSForty male Wistar rats were randomly divided into four groups: low 1-BP group (200 mg/kg), middle 1-BP group (400 mg/kg), high 1-BP group (800 mg/kg) and control group, and the exposure time was 7 days. The Morris water maze (MWM) test was applied to evaluate the learning-memory function in rats. After the MWM test, the rats were sacrificed, the cerebral cortex and hippocampus were quickly dissected and homogenized in ice bath. The activity of acetylcholine esterase (AChE) and choline acetyltransferase (ChAT) in supernatant of homogenate were detected.
RESULTSThe latency and swim path-length of rats in middle and high 1-BP groups prolonged significantly in place navigation test and the efficiency of searching strategy obviously decreased, as compared with control group (P < 0.05 or P < 0.01). In spatial probe test, the number of crossing platform in three 1-BP groups decreased significantly, as compared with control group (P < 0.05 or P < 0.01). The cortical AChE activity of rats in middle and high 1-BP groups was significantly higher than that of control and low 1-BP group (P < 0.05 or P < 0.01). The AChE activity in rat hippocampus of high 1-BP group obviously increased, as compared with control group as compared with control group (P < 0.05). There was no significant difference of cortical ChAT activity between three 1-BP groups and control group (P > 0.05). In the hippocampus, there was no difference of ChAT activity among the groups (P > 0.05).
CONCLUSION1-BP exposure could significantly influence the learning-memory function in rats due to the increase of AChE activity.
Acetylcholinesterase ; metabolism ; Animals ; Cerebral Cortex ; drug effects ; enzymology ; Choline O-Acetyltransferase ; metabolism ; Hippocampus ; drug effects ; enzymology ; Hydrocarbons, Brominated ; toxicity ; Male ; Maze Learning ; drug effects ; Rats ; Rats, Wistar
9.Results of 779 cases of neonatal fundus screening and risk factors for neonatal fundus diseases.
Rui LUO ; Jie LIU ; Ping HU ; Shu-Shu CHENG ; Bi-Zhen SHI ; Jian-Hua ZHU ; Ling LIU
Chinese Journal of Contemporary Pediatrics 2014;16(12):1197-1201
OBJECTIVETo determine the prevalence and risk factors of retinal diseases of preterm infants and full term for newborns small gestational age born (SGA) by using wide-angle digital retinal imaging system (RetCam3).
METHODSClinical data of 779 preterm and SGA infants whose eyes were detected by RetCam3 between January and December 2013 before discharge were studied retrospectively.
RESULTSAmong the 779 infants, there were 69 cases of retinal hemorrhage (8.9%), 10 cases (1.3%) of retinopathy of prematurity (ROP), 9 cases of retinal exudative changes, 4 cases of retinal myelinated nerve fibers, 2 cases of congenita cataract, 3 cases of retinal chromatosis, 2 cases of retinal crystalline changes and 1 case of retinoblastoma. Logistic regression analysis indicated that low birth weight and gestational age and the history of oxygen inhalation were risk factors for the development of ROP and that vaginal delivery and mechanical ventilation increased the risk of retinal hemorrhage.
CONCLUSIONSNeonatal fundus diseases may be so various and harmful that early fundus screening should be carried out on high-risk infants, such as preterm and SAG infants. Preventive measures should be taken against the risk factors for fundus diseases.
Birth Weight ; Female ; Fundus Oculi ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Premature ; Male ; Neonatal Screening ; Retinal Hemorrhage ; diagnosis ; etiology ; Retinopathy of Prematurity ; diagnosis ; etiology ; Risk Factors
10.Allele frequencies and species specificity of five short tandem repeat loci of Chinese Han population in Chengdu.
Lin ZHANG ; Ying-bi LI ; Jing YAN ; Ji ZHANG ; Miao LIAO ; Zhen-dong ZHU ; Yi-ping HOU ; Jin WU
Chinese Journal of Medical Genetics 2006;23(6):685-688
OBJECTIVETo obtain the data in polymorphism distribution of the five short tandem repeat (STR) loci: D18S979, D11S2014, D18S548, D1S1667 and GATA164F07 of Chinese Han population in Chengdu, and to evaluate their usefulness in the field of species specificity in forensic science.
METHODSPCR, polyacrylamide gel electrophoresis (PAGE) and silver staining techniques were used to analyze the DNA samples from 100 unrelated individuals of Chinese Han ethnic group in Chengdu. Twelve different animals: monkey, pig, dog, bull, goat, chicken, duck, eel, mudfish, rabbit, guinea pig and mouse were selected as controls in this study for evaluating the species specificity of the five STR loci.
RESULTSSix alleles and twelve genotypes were observed in D18S979. Five alleles and eleven genotypes were observed in D11S2014. Five alleles and thirteen genotypes were observed in D18S548. Seven alleles and nineteen genotypes were observed in D1S1667. Six alleles and fourteen genotypes were observed in GATA164F07. The genotype distributions of the five loci were analyzed by some related software and no deviation from the Hardy-Weinberg equilibrium was observed. Evaluated by way of using different animals as controls, monkey had amplification products at the extra-typing field of D18S979, D11S2014 and D1S1667. Bull, dog and eel had amplification product at typing field of D18S979, and pig, duck, mouse and rabbit had weak product. Bull had weak product at the typing field of D18S548. Dog, goat and eel had product at the typing field of D1S1667. Dog had weak product at the typing field of GATA164F07. Mudfish, chicken and guinea pig had no amplification product at the five loci.
CONCLUSIONThese data indicate that D18S979, D18S548, D1S1667 and GATA164F07 are highly polymorphic and D11S2014, D18S548 and GATA164F07 can play a key role in species identification.
Animals ; Asian Continental Ancestry Group ; genetics ; China ; Forensic Genetics ; methods ; Gene Frequency ; Genetics, Population ; Heterozygote ; Humans ; Polymorphism, Genetic ; Species Specificity ; Tandem Repeat Sequences ; genetics