1.Expression of macrophage migration inhibitory factor, p53 and CD34 in ovarian carcinoma.
Cheng-zhang HE ; Xiao-ai XIA ; Yu-yu WU ; Hong PU ; Bei LÜ ; Yu-rong MAO ; Zhen-yu ZHANG ; Wei-hong GAO
Chinese Journal of Pathology 2007;36(4):261-262
Adolescent
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Adult
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Aged
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Aged, 80 and over
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Antigens, CD34
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metabolism
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Child
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Colonic Neoplasms
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pathology
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Cystadenocarcinoma, Mucinous
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metabolism
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secondary
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Cystadenocarcinoma, Serous
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metabolism
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secondary
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Female
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Humans
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Macrophage Migration-Inhibitory Factors
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metabolism
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Microvessels
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pathology
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Middle Aged
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Neoplasm Recurrence, Local
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Ovarian Neoplasms
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metabolism
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pathology
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secondary
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Stomach Neoplasms
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pathology
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Tumor Suppressor Protein p53
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metabolism
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Young Adult
2.Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease.
Ru-xu ZHANG ; Bei-sha TANG ; Xiao-hong ZI ; Wei LUO ; Kun XIA ; Qian PAN ; Zhi-gao LONG ; Zheng-mao HU ; Xiao-bo LI
Chinese Journal of Medical Genetics 2004;21(3):207-210
OBJECTIVETo study the mutation feature of ganglioside-induced differentiation associated protein-1 (GDAP1) gene in Chinese Charcot-Marie-Tooth disease(CMT) patients.
METHODSMutation analysis was carried out by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing of the six exons and their flanking regions of GDAP1 gene in twenty-three CMT patients, including 8 probands of autosomal recessive CMT families and 15 sporadic patients.
RESULTSA compound heterozygous mutation A533G and A767G were unveiled in one autosomal recessive CMT kindred. The homozygous and heterozygous T507G were common SNPs in Chinese population.
CONCLUSIONA533G and A767G of GDAP1 gene were new mutations firstly reported.
Adolescent ; Adult ; Charcot-Marie-Tooth Disease ; genetics ; Child ; Child, Preschool ; Female ; Humans ; Male ; Mutation ; Nerve Tissue Proteins ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Sequence Analysis, DNA
3.Spastin gene mutation in Chinese patients with hereditary spastic paraplegia.
Guo-hua ZHAO ; Bei-sha TANG ; Wei LUO ; Kun XIA ; Mao-you ZHUANG ; Fan-bin KONG ; Xin-xiang YAN ; Han-xiang DENG ; Jian-feng XIAO ; Jia-hui XIA
Chinese Journal of Medical Genetics 2003;20(3):177-180
OBJECTIVETo investigate the mutation characteristics of spastin gene in Chinese patients with hereditary spastic paraplegia (HSP) and thus provide a basis for the gene diagnosis of HSP.
METHODSMutation of spastin gene was screened by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 31 unrelated affected HSP individuals in China, of whom 22 were from autosomal dominant families and 9 were sporadic HSP patients. Co-segregation analysis was carried out after the finding of abnormal SSCP bands.
RESULTSSix cases were found to have abnormal SCP bands, and among them, two missense mutations (T1258A, A1293G in exon 8) and one deletion mutation (1667delACT or 1668delCTA or 1669delTAC in exon 14) were found and all of them were not reported previously. They were all co-segregated with the disease and were localized within the functional domain of spastin gene. Besides, T1258A was seen in two unrelated families.
CONCLUSIONThe mutation rate (18.2%) in autosomal dominant HSP in Chinese patients is comparatively low. Point mutation is the major mutation type and exon 8 may be the mutation hot spot.
Adenosine Triphosphatases ; genetics ; Asian Continental Ancestry Group ; genetics ; China ; Exons ; Female ; Humans ; Introns ; Male ; Mutation ; Mutation, Missense ; Pedigree ; Spastic Paraplegia, Hereditary ; genetics ; Spastin
4.Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L.
Ru-xu ZHANG ; Bei-sha TANG ; Xiao-hong ZI ; Wei LUO ; Kun XIA ; Qian PAN ; Zheng-mao HU ; Guo-hua ZHAO ; Ke GUO
Chinese Journal of Medical Genetics 2006;23(2):189-191
OBJECTIVETo clone the disease-causing genes possibly existing in 6.8 cM distance between microsatellite markers D12S1720 and D12S1611 in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L (CMT2L).
METHODSTen positional and functional candidate genes were chosen among all known genes in this locus region by bioinformatics inqury. Mutation detection was performed by sequencing the exons and intron-exon junctions of the candidate genes.
RESULTSEleven sequence variations, that included 5 heterozygous and 6 homozygous variations, were detected in the exons and flanking areas of the 10 candidate genes. All the variations showed no co-segregation with disease phenotype.
CONCLUSIONTen candidate genes(TAOK3, RAB35, RPLP0, PXN, RNF10, RHOF, VPS33A, RSN, DENR, RNP24) were ruled out as the disease-causing gene for CMT2L. Ten single nucleotide polymorphisms (SNP) were reported for the first time.
Base Sequence ; Charcot-Marie-Tooth Disease ; genetics ; Chromosomes, Human, Pair 12 ; genetics ; Cloning, Organism ; DNA ; analysis ; DNA Mutational Analysis ; Humans ; Molecular Sequence Data ; Nucleic Acid Amplification Techniques
5.Measurement of serum free light chains and its clinical significance in 20 newly diagnosed patients of multiple myeloma.
Xiao-Bei MAO ; Xie-Qun CHEN ; Yong-Ping ZHAI ; Rong LIANG ; Guang-Xun GAO ; Guo-Guang MA ; Ya-Ping YU ; Feng LI
Journal of Experimental Hematology 2008;16(4):829-832
The objective of this study was to explore the clinical significance of measuring serum free light chains (sFLC) and to compare with serum total light chains (free and binded) in multiple myeloma (MM). sFLC in 20 newly diagnosed MM patients and 20 cases of healthy people as control were measured by immuno-nephelometric assays; the serum light chains and kappa/lambda ratio were measured in all patients, while immunofixation electrophoresis (IFE) tests were carried out at the same time in 18 out of 20 patients. The results showed that the abnormality of serum free light chains and kappa/lambda ratio were found in all of the 20 newly diagnosed MM patients (p < 0.01). The measurement of sFLC showed higher sensitivity than the total serum chains (p < 0.01). It is concluded that the method testing sFLC by immuno-nephelometric assay combined with kappa/lambda ratio is valuable for MM diagnosis, and the measurement of sFLC can be used as one of indicators for MM diagnosis.
Adult
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Aged
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Biomarkers, Tumor
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blood
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Female
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Humans
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Immunoglobulin kappa-Chains
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blood
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Immunoglobulin lambda-Chains
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blood
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Male
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Middle Aged
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Multiple Myeloma
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blood
6.A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
Guo-hua ZHAO ; Zheng-mao HU ; Lu SHEN ; Hong JIANG ; Zhi-jun REN ; Xiao-min LIU ; Kun XIA ; Peng GUO ; Qian PAN ; Bei-sha TANG
Chinese Medical Journal 2008;121(5):430-434
BACKGROUNDHereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared characteristics of slowly progressive spasticity and weakness of the lower limbs. Thirteen loci for autosomal dominant HSP have been mapped.
METHODSA Chinese family with HSP was found in the Shandong province and Inner Mongolia Autonomous Region of China and genomic DNA of all 19 family members was isolated. After exclusion of known autosomal dominant loci, a genome wide scan and linkage analysis were performed.
RESULTSThe known autosomal dominant loci of SPG3A, SPG4, SPG6, SPG8, SPG9, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31 and SPG33 were excluded by linkage analysis. The results of a genome wide scan demonstrated candidate linkage to a locus on chromosome 11p14.1-p11.2, over an 18.88 cM interval between markers D11S1324 and D11S1933. A maximal, two point LOD score of 2.36 for marker D11S935 at a recombination fraction (theta) of 0 and a multipoint LOD score of 2.36 for markers D11S1776, D11S1751, D11S1392, D11S4203, D11S935, D11S4083, and D11S4148 at theta=0, suggest linkage to this locus.
CONCLUSIONThe HSP neuropathy in this family may represent a novel genetic entity, which will facilitate discovery of this causative gene.
Adult ; Chromosome Mapping ; Chromosomes, Human, Pair 11 ; Female ; Humans ; Lod Score ; Male ; Spastic Paraplegia, Hereditary ; genetics
7.Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease.
Xiao-min LIU ; Bei-sha TANG ; Guo-hua ZHAO ; Kun XIA ; Fu-feng ZHANG ; Qian PAN ; Fang CAI ; Zheng-mao HU ; Cheng ZHANG ; Biao CHEN ; Lu SHEN ; Ru-xu ZHANG ; Hong JIANG
Chinese Journal of Medical Genetics 2005;22(5):510-513
OBJECTIVETo investigate the features of small heat shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT).
METHODSDNA samples from 114 CMT probands were screened for mutations in HSP27 gene by polymerase chain reaction and direct sequencing, and haplotype analysis was further carried out on the mutation detected families.
RESULTSOne missense mutation C379T was detected in 4 autosomal dominant CMT2 families. Haplotype analysis indicated that the 4 families probably had a common ancestor.
CONCLUSIONTo the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes.
Asian Continental Ancestry Group ; genetics ; Base Sequence ; Charcot-Marie-Tooth Disease ; ethnology ; genetics ; DNA Mutational Analysis ; methods ; Female ; HSP27 Heat-Shock Proteins ; genetics ; Haplotypes ; Humans ; Male ; Mutation ; Mutation, Missense ; Pedigree
8.Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.
Fu-feng ZHANG ; Bei-sha TANG ; Guo-hua ZHAO ; Biao CHEN ; Cheng ZHANG ; Wei LUO ; Xiao-min LIU ; Kun XIA ; Fang CAI ; Zheng-mao HU ; Xin-xiang YAN ; Ru-xu ZHANG ; Peng GUO
Chinese Journal of Medical Genetics 2005;22(4):361-363
OBJECTIVETo study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease.
METHODSA CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT probands.
RESULTSIn the 114 CMT probands, a 582(C--> T)(T194T)samesense mutation was found in two unrelated families.
CONCLUSIONThe rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115).
Asian Continental Ancestry Group ; genetics ; Charcot-Marie-Tooth Disease ; ethnology ; genetics ; China ; DNA Mutational Analysis ; Heat-Shock Proteins, Small ; genetics ; Humans ; Mutation ; Polymerase Chain Reaction
9.Determination of polyaminopropyl biguanide in cosmetics by high performance liquid chromatography
Jing CHEN ; Long-hai JIAN ; Bei-ping MAO ; Xiao-qian YUAN ; Rong ZHENG
Shanghai Journal of Preventive Medicine 2021;33(4):349-354
Objective:To establish a high performance liquid chromatographic(HPLC) quantitative method for the determination of polyaminopropyl biguanide(PAPB) in cosmetics. Methods:Different forms of cosmetic samples were prepared by ultrasonic extraction and followed by high speed centrifugation of the extraction solution. The supernatant was degreased by hexane, and then was filtered by 0.22 μm millipore filter. The continued filtrate was taken for analysis. An Agilent reversed phase column, Zorbax SB-C18(5 μm,4.6 mm×250 mm)was used with 0.02 mol/L ammonium acetate buffer (pH=4.8) : methanol (60∶40) as the mobile phase under the condition of isocratic elution. Diode array detection method was used for PAPB determination. Qualitative and quantitative determination of PAPB was conducted in 51 batches of commercially available cosmetics. Results:The relative standard deviations (RSD) were in the range of 1.2 %-4.4 %(
10.The effectiveness and safety of ultrasound-guided hydrostatic reduction for pediatric acute intussusception
Liezhen HU ; Bei XIA ; Tingting LIU ; Tingting DING ; Wei YU ; Jinlong DENG ; Jia LI ; Zhou LIN ; Hongwei TAO ; Shumin FAN ; Xia FENG ; Lei LIU ; Na XU ; Jianxiong MAO ; Chi ZHANG ; Dong XIAO ; Bin WANG ; Xiaopeng MA
Chinese Journal of Ultrasonography 2021;30(9):800-805
Objective:To evaluate the effectiveness and safety of ultrasound-guided hydrostatic reduction for pediatric acute intussusception.Methods:One thousand eight hundred and thirty patients with acute intussusception diagnosed by ultrasound in Shenzhen Children′s Hospital from September 2017 to July 2020 were treated with ultrasound-guided hydrostatic reduction method. The therapeutic effects, complications and ultrasonic features were observed.Results:Among 1 830 cases, 1 791 cases were diagnosed as primary intussusception, and 39 cases were secondary intussusception. The overall rate of successful ultrasound enema reduction were 1 780/1 830(93.7%) patients. All 50/1 830(2.7%) patients underwent surgery after unsuccessful enema reduction, including 42 cases of primary intussusception, and 8 cases of secondary intussusception. The complication of intestinal perforation occurred in 3 cases (0.16%), and there were no deaths.Conclusions:Ultrasound-guided enema reduction for pediatric acute intussusception is an effective and safe method without radiation exposure, and can be used as the preferred method for non-operative treatment of intussusception.