1.Analysis on GJB2 gene mutations with nonsyndromic hearing impairment in Kazak patients of Xinjiang.
Changwei WANG ; Xiaoniu CAI ; Guanghua ZOU ; Ling TIE ; Yanhua LI
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2014;28(10):676-679
OBJECTIVE:
To study mutations in the GJB2 gene in Kazak patients with nonsyndromic hearing impairment from Xinjiang.
METHOD:
One hundred and ninety-three cases of Kazak from the Xinjiang region, including 97 cases of hearing loss and 96 cases of normal people, were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing.
RESULT:
Eight kinds of mutation were found in the encoding region of hearing impairment group:12 cases of 35 delG homozygous, 5 cases of 79G>A homozygous, 8 cases of 79G>A heterozygous, 1 case of 79G>A heterozygous and 608T>C heterozygous, 5 cases of 79G>A heterozygous and 341A>G heterozygous, 4 cases of 235 delC heterozygous, 2 cases of 341A>G heterozygous, 1 case of 439T>G heterozygous, 1 cases of 457G> A heterozygous, 2 cases of 521G>A homozygous. Four kinds of mutations found in the normal group were confirmed as common polymorphic mutation.
CONCLUSION
The study suggests that the GJB2 gene mutation of the Kazak deaf population in Xinjiang has ethnic and regional characteristics. There is a rather high carrier frequency of GJB2 mutation of Kazak patients in Xinjiang. In this study the 35 delG mutation is a common mutation of Kazak patients.
Adolescent
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Adult
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Child
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Child, Preschool
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China
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Connexin 26
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Connexins
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genetics
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Deafness
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genetics
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Ethnic Groups
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genetics
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Humans
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Infant
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Mutation
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Young Adult
3.Effects of selenium,iodine deficiency and their combination on bone and cartilage growth in parental and first filial generation rats
Feng-ling, REN ; Xiong, GUO ; Yin-gang, ZHANG ; Shi-jie, WANG ; Hong, ZUO ; Zeng-tie, ZHANG ; Dong, GENG
Chinese Journal of Endemiology 2010;29(3):253-257
Objective To study the effects of selenium deficiency,iodine deficiency and combined selenium and iodine deficiency on bone and cartilage growth in the parental and the first filial generation rats. Methods Forty-eight weanling healthy SD rats were randomly divided into selenium deficieney, iodine deficiency, combined selenium and iodine deficiency and control groups according to their body mass. These rats were fed with selenium deficiency, iodine deficiency, combined selenium and iodine deficiency, and normal fodder, respectively. The parental rats (about 3 months old) were mated in each group 8 weeks after the beginning of the experiment. Right tibias and left knee joints were collected when the parental generation rats were about 6 months and the first filial generation rats were about 3 months old. Tibial length, mid-shaft tibial diameter, and articular cartilage diameters of the right tibias were measured by vernier caliper. Left knee joints were embedded and cut into sections and the thickness of the growth plate cartilage, layers of proliferative and hypertrophic chondrocytes in growth plate cartilage were observed under the light microscope. Results The selenium deficiency had significant effect on serum selenium level of the parental and the first filial generation rats(F value were 239.56,232.68, P< 0.01), and also on serum T4 level of the first filial generation rats(F value were 6.95, P < 0.05). The iodine deficiency had significant effect on serum T3 and T4 level in the two generations rats(F value were 14.11,14.05,30.29,34.53, P < 0.01 ). There were interactions between selenium deficiency and iodine deficiency on serum T4 level in the first filial generation rats (F= 5.99, P< 0.05). The serum selenium of selenium deficiency group[ (30.28 ± 6.34), (43.95 ± 9.75)μg/L],combined selenium and iodine deficiency group[ (30.33 ± 5.18), (35.40 ± 3.16)μg/L] were significantly lower than iodine deficiency group[(345.83 ± 29.55), (245.24 ± 9.95)μg/L] and the controls[ (358.64 ± 30.50), (236.50 ±9.75) μg/L] in the two generations. The serum T3 of combined selenium and iodine deficiency group [(0.55 ± 0.05 ),(0.88 ± 0.14)nmol/L] were significantly lower than the controls[(0.75 ± 0.08), (1.26 ± 0.26)nmol/L] in the two generations. The serum T4 of iodine deficiency [ (24.11 ± 2.29), (42.10 ± 8.92) nmol/L ] and combined selenium and iodine deficiency group[ (20.66 ± 1.93), (26.55 ± 5.98)nmol/L] were significantly lower than the controls[ (36.15 ±2.74), (52.79 ± 8.84)nmol/L] and selenium deficiency group[ (28.12 ± 3.33), (52.02 ± ll.99)nmol/L] in the two generations. The selenium deficiency and iodine deficiency had significant effect on tibial length, thickness of the growth plate cartilage, layers of proliferative and hypertrophic chondrocytes in first filial generation rats(F values were 24.31,6.98,40.76,56.15,25.24,82.82, 10.07,5.57, P <0.05 or <0.01). There were interactions between selenium deficiency and iodine deficiency on tibial length, thickness of the growth plate cartilage, layers of proliferative and hypertrophic chondrocytes (F values were 5.68,24.86,41.82,9.12, P <0.05 or <0.01 ). The tibial length of the selenium deficiency group[ (33.17 ± 0.34)mm] and combined selenium and iodine deficiency group[ (31.30 ± 0.87)mm] were significantly lower than the controls[ (34.12 ± 0.32)mm, P< 0.05]. Thickness of the growth plate cartilage [ (1.60 ± 0.18)mm ], layers of proliferative chondrocyte (8.54 ± 0.81), and hypertrophic chondrocyte (4.95 ± 0.37)of the combined selenium and iodine deficiency group were significantly decreased when compared to the selenium deficiency group[ (3.03 ± 0.10)mm, 14.68 ± 0.84,6.60 ± 0.31], iodine deficiency group[ (2.90 ± 0.09)mm, 13.75 ±0.33,6.61 ± 0.84 ] and the controls [ (3.19 ± 0.09) mm, 14.94 ± 0.36, 6.64 ± 0.26, P <0.05]. Thickness of the growth plate cartilage, layers of proliferative chondrocyte of the iodine deficiency group were lower than the controls(P<0.05). Conclusions Selenium deficiency impair tibial growth in first filial generation rats, iodine deficiency retarded the chondroncyte proliferation and decreases the thickness of growth plate cartilage in first filial generation rats, and combined selenium and iodine deficiency significantly impair the growth of bone and cartilage in first filial generation rats.
4.Study about seroconversion of HBV NAT screening-positive crowd from blood donors.
De-wen WANG ; Tie-bing WANG ; Fu-ping LIU ; Ling-ling SHI
Chinese Journal of Experimental and Clinical Virology 2008;22(2):127-129
OBJECTIVETo investigate the characteristics of seroconversion of HBV NAT screening-positive crowd from blood donors in Dongguan city and provide reference for the safety of blood transfusion and disease prevention.
METHODSWith retrospective survey, Nucleic acid testing (NAT) was used to analyze 28800 HBsAg-negative samples by ELISA from blood donors in Dongguan city from August, 2006 to August, 2007 with Roche Cobas AmpliScreen systems; and follow-up research including NAT for HBV-DNA, ELISA for HBsAg and multiple factors analysis for HBV infection was carried out on HBV NAT screening-positive crowd.
RESULTS10 positive pooling were screened from 28800 samples; after further detection, 2 of these positive pooling were HBV-DNA negative and 8 HBV-DNA positive samples were found.The 10-week follow-up research on these 8 blood donors showed that 6 were HBV-DNA positive and HBsAg-negative at 2 weeks, 4 weeks, 6 weeks, 8 weeks, 10 weeks respectively, 1 was not HBsAg positive until 2 weeks and was positive on follow-up, and considered in "window period", 1 was HBV-DNA negative, HBsAg-negative on follow-up. Of these 8,7 were not only migrant laborers with poor condition of work, life and health but also in high risk of secondary infection for HBV, in addition they had little idea of therapy or prevention measures of HBV infection and the other 1 was HBV-DNA negative, HBsAg-negative on follow-up, who was in better condition than the above 7 donors.
CONCLUSIONNAT is more sensitive than ELISA in screening HBV, but the probability of being false positive of NAT can not be ignored at the same time. On the hand, only screening HBsAg for HBV is relative limitation in high infection region of China. Some factors would have effect on the serum conversion of blood donors including the quality of work and life, therapy or prevention measures.
Adult ; Blood Donors ; DNA, Viral ; blood ; genetics ; Enzyme-Linked Immunosorbent Assay ; Female ; Follow-Up Studies ; Hepatitis B ; blood ; diagnosis ; prevention & control ; Hepatitis B e Antigens ; blood ; Hepatitis B virus ; genetics ; immunology ; Humans ; Male ; Mass Screening ; methods ; Nucleic Acid Amplification Techniques ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Young Adult
5.Toxic effect of butenolide on chondrocyte differentiation and the protective effect of selenium.
Hong ZUO ; Xiong GUO ; Shi-Jie WANG ; Zhong-Li SHI ; Shuang-Qing PENG ; Jun-Ling CAO ; Zeng-Tie ZHANG
Acta Academiae Medicinae Sinicae 2006;28(3):382-385
OBJECTIVETo study the effect of butenolide (BUT) on cultured chondrocytes differentiation and the possible protective effects of selenium (Se).
METHODSEx-vivo cultured chondrocytes were divided into six groups: (1) Control group (without BUT and Se); (2) Se 0.1 microg/ml control group; (3) BUT 0.1 microg/ml group; (4) BUT 1.0 microg/ml group; (5) BUT 5.0 microg/ml group; and (6) BUT 1.0 microg/ml + Se 0.1 microg/ml group. The expression of collagen II (Col II), collagen X (ColX), basic fibroblast growth factor (bFGF), and parathyroid hormone-related peptide (PTHrP) in (or around) chondrocytes in all groups were analyzed by immunohistochemistry.
RESULTSThe expressions of Col II in 1.0 microg/ml BUT group and 5.0 microg/ml BUT group were significantly lower than those in the control group (P < 0.05). The expression of Col II in 1.0 microg/ml BUT + Se group were significantly higher than those in the 1.0 microg/ml BUT group and 5.0 microg/ml BUT group (P < 0.05). The expressions of bFGF and PTHrP of BUT groups were significantly higher than those in the Se and control groups (P < 0.05). No expression of ColX was observed in all groups.
CONCLUSIONBUT can affect the collagen II synthesis of the chondrocytes. Selenium supplementation may play a protective role.
4-Butyrolactone ; analogs & derivatives ; pharmacology ; Cell Differentiation ; Cells, Cultured ; Chondrocytes ; cytology ; Humans ; Protective Agents ; pharmacology ; Selenium ; pharmacology ; T-2 Toxin ; toxicity
6.Prevention of multidrug-resistant organism infection through chlorhexidine gluconate rubbing bathing in patients in intensive care unit
Jin-Hua HUANG ; Xu-Hui KONG ; Ying DING ; Tie-Lin ZHU ; Ling WANG
Chinese Journal of Infection Control 2018;17(3):252-255
Objective To study the effect of chlorhexidine gluconate rubbing bathing on preventing multidrug-resistant organism(MDRO)infection in patients in intensive care unit(ICU).Methods 108 critically ill patients in a tertiary first-class hospital between January and December 2016 were randomly divided into trial group and control group.Trial group adopted wet towel containing 2% chlorhexidine gluconate for bathing, control group adopted water for bathing.Bacteriostasis rate, incidence of healthcare-associated infection(HAI), occurrence of MDRO infection, and adverse reaction between two groups of patients after rubbing bathing were compared.Results There was no significant difference in the bacteriostasis rate within 2 hours between two groups(P>0.05), bacteriostasis rates of trial group after 4, 8, and 24 hours of bathing were significantly higher than control group(P<0.001).Incidences of HAI in trial group and control group were 44.44%(24/54)and 66.67%(36/54)respectively(P<0.05); incidences of MDRO infection in trial group and control group were 20.37%(11/54)and 40.74%(22/54)respectively(P<0.05).The main infection sites in trial group and control group were both lower respiratory tract, accounting for 87.50%and72.22%respectively;8 cases(33.33%)in trial group and11(30.55%)in control group had ventilator-associated pneumonia(VAP).11 strains of MDROs in trial group and 22in control group were isolated, both were mainly carbapenem-resistant Acinetobacter baumannii (CRAB).There was no adverse reaction after the bathing in both groups.Conclusion Application of chlorhexidine gluconate bathing can effectively reduce the incidence of HAI and MDRO infection in ICU patients.
7.Butenolide induces apoptosis of cultured chondrocytes: study of its mechanism.
Shi-jie WANG ; Xiong GUO ; Yin-gang ZHANG ; Feng-ling REN ; Shuang-qing PENG ; Jun-ling CAO ; Zhong-li SHI ; Zeng-tie ZHANG
Journal of Southern Medical University 2007;27(4):414-417
OBJECTIVETo observe cell apoptosis and Bcl-2 and Bax expression changes of chondrocytes induced by butenolide (BUT) and the inhibitory effect of selenium against BUT-induced chondrcyte apoptosis, to gain insights into the mechanism by which BUT induces chondrcyte apoptosis.
METHODSCartilage tissue reestablished from human fetal articular chondrocytes in vitro were treated with BUT at the concentrations of 0.1, 1.0 and 5.0 microg/ml and with the protective factor selenium. TUNEL method was used to detect chondrocyte apoptosis, which was quantified by flow cytometry. Immunohitochemistry was performed to analyze the expression of Bcl-2 and Bax in the reestablished cartilage tissue.
RESULTSBUT exposure induced chondrocyte apoptosis, and the apoptosis rate increased with the concentration increment of BUT from 0 to 1.0 mg/ml, resulting also increased positive expression rate of Bcl-2 and Bax(P<0.05). The apoptosis rate of chondrocytes in BUT+ selenium group was significantly lower than that of BUT groups (P<0.05), as was the positivity rate of Bcl-2 and Bax expression (P<0.05).
CONCLUSIONBUT induces chondrocyte apoptosis in positive relation with BUT concentration (from 0 to 1.0 mg/ml) and causes increased expressions of Bcl-2 and Bax. Selenium can inhibit the chondrocyte apoptosis induced by BUT.
4-Butyrolactone ; analogs & derivatives ; pharmacology ; Apoptosis ; drug effects ; Cells, Cultured ; Chondrocytes ; drug effects ; Humans ; In Situ Nick-End Labeling ; Proto-Oncogene Proteins c-bcl-2 ; metabolism ; Selenium ; pharmacology ; bcl-2-Associated X Protein ; metabolism
8.Effects of prepubertal exposure to diethylstilbestrol on testicular development and function of SD rats.
He-Cheng LI ; Qi CHEN ; Zi-Ming WANG ; Wei-Min GAN ; Wei CHENG ; Tie CHONG ; Tao SHI ; Shu-Dong QIU ; Ling GE ; Xin-Yang WANG
National Journal of Andrology 2008;14(2):142-148
OBJECTIVETo investigate the effects of prepubertal exposure to diethylstilbestrol (DES) on the testicular development and function of Sprague-Dawley (SD) rats.
METHODSNinety 21-day-old male SD rats were randomly and equally divided into 4 experimental groups (Da, Db, Dc and Dd), which were injected with DES dissolved in corn oil at the dose of 0.01, 0.1, 1.0 and 10.0 microg/(kg x d) from postnatal day (PND) 22 to 35, and a control group (C), which received vehicle only. The testicular development of all the rats was observed, and their testes were harvested in the stages of late puberty (PND 50), sexual maturity (PND 64) and adulthood (PND 130) respectively to determine the weight and histological features of the testis and examine the quality of the sperm in the epididymal cauda of the PND 130 rats.
RESULTSThe testis descent in the C, Da, Db, Dc and Dd groups occurred on PND 26.17 +/- 1.94, 26.83 +/- 1.47, 28.68 +/- 1.03, 33.50 +/- 1.87 and 41.50 +/- 2.74 respectively, significantly delayed in the Db, Dc and Dd groups compared with the C group (P < 0.05 or P < 0.01). On PND 50, the unilateral testis weights in the C, Da, Db, Dc and Dd groups were (1.38 +/- 0.01) g, (1.38 +/- 0.12) g, (1.30 +/- 0.14) g, (0.86 +/- 0.18) g and (0.73 +/- 0.27) g respectively, significantly less in the Dc and Dd groups than in the C group (P < 0.01). Compared with the C group, there was a slight decrease in the number of the cells in the epithelia of a few seminiferous tubules in the Db group on PND 50, maldevelopment of seminiferous tubules, reduced cell number in seminiferous epithelia, blocked spermatogenesis and aplasia of Leydig cells in the Dc and Dd groups in a dose-dependent manner. On PND 64, the unilateral testis weights in the C, Da, Db, Dc and Dd groups were (1.60 +/- 0. 06) g, (1.62 +/- 0.11) g, (1.58 +/- 0.08) g, (1.47 +/- 0.10) g and (0.99 +/- 0.37) g respectively, significantly less in the Dc and Dd groups than in the C group (P < 0.05 or P < 0.01), and the histological alteration of the testis in the Dc and Dd groups was similar to or less than that on PND 50. On PND 130, no statistic difference was observed either in unilateral testis weight or in the histological features of the testis between any experimental group and the control (P > 0.05). The sperm concentration in the epididymal cauda in the C, Da, Db, Dc and Dd groups were (73.00 +/- 16.90) x 10(6)/ml, (68.00 +/- 19.67) x 10(6)/ml, (68.67 +/- 12.15) x 10(6)/ml, (35.17 +/- 15.64) x 10(6)/ml and (19.13 +/- 5.17) x 10(6)/ml, significantly lower in the Dc and Dd groups than in the C group (P < 0.01). There was a significant decrease in sperm motility in the Dd group (P < 0.01), the percentage of grade a sperm in the Db, Dc and Dd groups (P < 0.05) and the percentage of grade b sperm in the Dd group (P < 0.01).
CONCLUSIONPrepubertal exposure to low dose of DES (0.01 microg/[kg x d] x 14 d) does not significantly affect the testicular development and function of SD rats, while high dose (1.0-10.0 microg/[kg x d] x 14 d) has significant short- (PND 50 and 64) or long-term (PND 130) toxic effect, which increases with dose and decreases with age. The mechanism of the toxic effect involves the insults to the development and function of Leydig and Sertoli cells.
Animals ; Carcinogens ; toxicity ; Diethylstilbestrol ; toxicity ; Dose-Response Relationship, Drug ; Male ; Organ Size ; drug effects ; Rats ; Rats, Sprague-Dawley ; Sexual Maturation ; drug effects ; Testis ; drug effects ; growth & development ; physiology ; Time Factors
9.Relationship between epidermal growth factor receptor gene mutation and copy number in Chinese patients with non-small cell lung cancer.
Lan-Jun ZHANG ; Ling CAI ; Zhe LI ; Wu-Ping WANG ; Kang GUO ; Jian-Yong SHAO ; Jun-Ye WANG ; Hui YU ; Tie-Hua RONG
Chinese Journal of Cancer 2012;31(10):491-499
Epidermal growth factor receptor (EGFR) gene mutation and copy number are useful predictive markers that guide the selection of non-small cell lung cancer (NSCLC) patients for EGFR-targeting therapy. This study aimed to investigate the correlation between EGFR gene mutation and copy number and clinicopathologic characteristics of Chinese patients with NSCLC. NSCLC specimens collected from 205 patients between November 2009 and January 2011 were selected to detect EGFR gene mutations with real-time polymerase chain reaction (RT-PCR) and to detect EGFR gene copy number with fluorescence in situ hybridization (FISH). EGFR mutations primarily occurred in females, non-smokers, and patients with adenocarinomas (all P < 0.001). Tissues from 128 (62%) patients were FISH-positive for EGFR, including 37 (18%) with gene amplification and 91 (44%) with high polysomy. EGFR gene mutation was correlated with FISH-positive status (R = 0.340, P < 0.001). Multivariate analysis showed that not smoking (OR = 5.910, 95% CI = 2.363-14.779, P < 0.001) and having adenocarcinoma (OR = 0.122, 95% CI = 0.026-0.581, P = 0.008) were favorable factors for EGFR gene mutation. These results show a high frequency of EGFR FISH positivity in NSCLC tissues from Chinese patients and a significant relevance between EGFR gene mutations and FISH-positive status. Among the FISH-positive samples, EGFR gene mutation occurred more frequently in samples with gene amplification compared to those with high polysomy, suggesting that EGFR mutation and gene amplification should be used as clinical decision parameters to predict response to EGFR-targeting therapy.
Adenocarcinoma
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genetics
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metabolism
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Adult
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Aged
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Aged, 80 and over
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Asian Continental Ancestry Group
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genetics
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Carcinoma, Non-Small-Cell Lung
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genetics
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metabolism
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Female
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Gene Amplification
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Gene Dosage
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Humans
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In Situ Hybridization, Fluorescence
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Lung Neoplasms
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genetics
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metabolism
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Male
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Middle Aged
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Mutation
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Real-Time Polymerase Chain Reaction
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Receptor, Epidermal Growth Factor
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genetics
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metabolism
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Smoking
10.18F-FDG imaging by coincidence circuit SPECT with low-dose CT in preoperative assessment of pulmonary lesions.
Qian WANG ; Li-Li HUANG ; Ming-Gang YUE ; Shu-Ling QIN ; Yu WANG ; Yu-Xin NIE ; Cai-Qun ZHANG ; Tie-Jun LIANG ; Ya-Mei ZHAO
Chinese Journal of Oncology 2006;28(12):924-927
OBJECTIVETo assess the clinical diagnostic value of 18F-FDG imaging by coincidence circuit SPECT with low-dose CT in differential diagnosis of pulmonary lesions and mediastinal lymph node involvement, which can not be definitely diagnosed based on regular CT image in patients with non-small-cell lung cancer (NSCLC).
METHODSBy using GE-Millennium VG with Hawkeye, 18F-FDG imaging was carried out in 48 patients with suspected lung cancer. Clinical value of 18F-FDG imaging for diagnosing malignancy was evaluated through comparison with the final pathological results. Mediastinal lymph node involvement was also assessed through lesion-by-lesion comparison with pathologic results in 74 lymph node regions from 24 patients.
RESULTSFinal pathologic diagnoses of these patients were 36 malignancies consisting of 20 adenocarcinomas, 12 squamous cell carcinomas, 3 small cell carcinomas and I large cell carcinoma; 12 benign tumors including 6 pneumonias, 2 tuberculosis, 2 hamatomas, 1 cyst and 1 neurofibroma. Of 48 patients, uptake of 18F-FDG in the chest was found to be abnormal in 40. Correct diagnosis were made in 34 malignancies and 6 false positive lesions were excluded based on morphology and 18F-FDG uptake status of the lesion. There were 6 false positive and 2 false negative cases. Furthermore, extrathoracic metastases which were not showed on previous CT image in 4 patients including one in the adrenal gland and 3 in the bone were detected by 18F-FDG imaging. The sensitivity, specificity and accuracy of the 18F-FDG imaging for differentiating malignant tumor from benign was 94.4%, 50.0% and 83.3%, respectively. Squamous cell carcinoma was found to uptake more FDG than adenocarcinoma. For determination of mediastinal lymph node involvement, the sensitivity, specificity and accuracy of 18F-FDG imaging was 57.9% , 90.9% and 82.4%, respectively through lesion-by-lesion comparison; whereas, which was 61.5%, 81.8% and 70.8%, respectively, based on case-by-case comparison.
CONCLUSION18F-FDG imaging by coincidence circuit SPECT with low-dose CT is quite helpful in differential diagnosis for patient with undetermined lesion on regular CT image, but it is limited for staging of lung cancer in the patients with non-small cell lung cancer.
Adult ; Aged ; Carcinoma, Non-Small-Cell Lung ; diagnosis ; diagnostic imaging ; Diagnosis, Differential ; Female ; Fluorodeoxyglucose F18 ; Humans ; Lung ; diagnostic imaging ; pathology ; Lung Neoplasms ; diagnosis ; diagnostic imaging ; Lymphatic Metastasis ; Male ; Middle Aged ; Neoplasm Staging ; Pneumonia ; diagnosis ; diagnostic imaging ; Preoperative Care ; Radiation Dosage ; Radiopharmaceuticals ; Retrospective Studies ; Sensitivity and Specificity ; Tomography, Emission-Computed, Single-Photon ; methods ; Tomography, X-Ray Computed ; Tuberculosis, Pulmonary ; diagnosis ; diagnostic imaging