1.Obesity at different ages and endometrial cancer risk factors in urban Shanghai, China.
Wanghong XU ; Qi DAI ; Zhixian RUAN ; Jiarong CHENG ; Fan JIN ; Xiaoou SHU
Chinese Journal of Epidemiology 2002;23(5):347-351
OBJECTIVETo study the relationship between obesity at different ages and the risk of endometrial cancer in urban Shanghai, China.
METHODSIn a population-based case-control study conducted in urban Shanghai, in-person interviews and anthropometric measurements were completed for 497 women at age 30 to 69 and an equal number of controls frequency-matched to cases on age distribution. All cases were newly diagnosed with endometrial cancer from January 1, 1997 to June 30, 2000. Unconditional logistic regression model was employed to estimate the adjusted odds ratios (ORs) and 95% confidence intervals (CIs) of the obesity at different ages.
RESULTSAfter adjustment for some potential confounding variables, neither adolescent height nor weight was significantly related to endometrial cancer. Obesity in adulthood, except around 20 years old, was associated with elevated risks, with odds ratios for the highest versus lowest quartile of body mass index (BMI) being 1.5 (95% CI: 1.0 - 2.1), 1.7 (95% CI: 1.2 - 2.4), 1.9 (95% CI: 1.3 - 2.8) and 1.7 (95% CI: 1.0 - 2.7) at ages 30, 40, 50 and 60, respectively. Weight gain of more than 7.5 kg at different 10-year intervals in adulthood were associated with increased risk of endometrial cancer, whereas only weight gain more than 15% of initial weight from 40 to 50 years old significantly related to the risk. Only weight loss from ages 20 to 30 was inversely associated with endometrial cancer risk (OR = 0.4, 95% CI: 0.2 - 0.8). Current body weight, BMI and waist-to-hip ratio (WHR) were independent risk factors to endometrial cancer while standing height and sitting-to-standing height ratio were unrelated to the risk of endometrial cancer.
CONCLUSIONResults indicated that adolescent obesity was unrelated to endometrial cancer. General obesity in adulthood, as well as body fat distribution, were associated with the risk of endometrial cancer independently. Weight changes before and after age 30 had different effects on the risk of endometrial cancer.
Adult ; Age Factors ; Aged ; Body Height ; Body Mass Index ; Body Weight ; Endometrial Neoplasms ; etiology ; Female ; Humans ; Middle Aged ; Obesity ; complications ; Risk Factors
2.Clinical and genetic analysis of 8 Chinese pedigrees with inherited dysfibrinogenemia.
Minghua JIANG ; Xiaoou WANG ; Kuangyi SHU ; Weiyan JIANG ; Ying HUANG ; Ying LIN ; Shanshan LI ; Yunliang HU
Chinese Journal of Medical Genetics 2014;31(2):134-139
OBJECTIVETo analyze clinical manifestation and genetic mutations in 8 Chinese pedigrees featuring hereditary dysfibrinogenemia.
METHODSProthrombin time(PT), activated partial thromboplastin time(APTT), thrombin time(TT), calibration of plasma protamine sulfate against TT, fibrinogen (Fg) activity, coagulation factors II, V, VII, VIII, IX, X, XI and XII of all probands and their family members were detected with an automatic blood coagulation analyzer; D-dimer(D-D) and fibrin(ogen) degradation products(FDPs) were also dtected by automatic blood coagulation analyzer, Fg antigen were detected with an immunoturbidimetry method. Exons of fibrinogen genes FGA, FGB and FGG and flanking sequences were amplified by polymerase chain reaction(PCR) and sequenced.
RESULTSAll of the probands showed normal levels of FDPs, D-dimer(D-D) and activity of coagulation factor II,V,VII, VIII, IX,X,XI, XII. Plasma PT and APTT were normal or slightly prolonged. Prolonged TT was found in all of the probands, whilst TT was not significantly shortened by protamine sulfate. Fg antigen was within the normal range, but Fg activity was significantly decreased. The Fg antigen/activity ratio was greater than 2. One proband has carried a heterozygous variant of the FGA gene g.1233G>A(p.A α Arg35His). Four have carried a heterozygous mutation of the FGB gene g.9692A>G(p.Bβ Asn190Ser). The remaining 3 had heterozygous substitution of FGG gene g.10819G>A(p.γ Arg301His). In addition, 2 polymorphisms (p.A α Thr331Ala) and p.B β Arg478Lys) were identified in FGA and FGB genes.
CONCLUSIONp.A α Arg35His, p.B β Asn190Ser and p. γ Arg301His are responsible for the inherited dysfibrinogenemia in the 8 Chinese pedigrees. p.B β Asn190Ser is firstly reported in China. p.B β Asn190Ser and p. γ Arg301His may be mutation hot spot in the Chinese population.
Afibrinogenemia ; blood ; genetics ; Fibrin Fibrinogen Degradation Products ; analysis ; Fibrinogen ; analysis ; genetics ; Humans ; Pedigree
3.Genotypic and phenotypic analysis of a case with inherited coagulation factor X deficiency.
Tao CHEN ; Fanfan LI ; Kuangyi SHU ; Jie LIU ; Chenfang SHEN ; Zhaohua ZHANG ; Susu JIN ; Xiaoou WANG ; Minghua JIANG
Chinese Journal of Medical Genetics 2018;35(4):544-547
OBJECTIVETo explore the correlation between F10 gene mutation and its phenotype in a Chinese pedigree affected with FX deficiency.
METHODSProthrombin time(PT), activated partial thromboplastin time(APTT), fibrinogen, FII activity(FII:C), FVII activity(FVII:C), FIX activity (FIX:C), FX activity(FX:C) were determined with a one-stage clotting assay. The FX antigen(FX:Ag) was detected with an enzyme linked immunosorbent assay(ELISA). The 8 exons, introns and 5' and 3' untranslated regions(UTR) of the F10 gene of the proband and her family members were subjected to PCR amplification and Sanger sequencing. Suspected mutation was confirmed by reverse sequencing. Polymorphisms were excluded by direct sequencing of 100 healthy individuals.
RESULTSThe PT and APTT of the proband have prolonged to 16.1 s and 49.0 s, respectively. Her FX:C and FX:Ag were reduced by 27% and 56%, and her mother's PT, APTT, FX:C and FX:Ag were 14.8 s, 37.4 s, 44%, 34%, respectively. Her grandmother's PT, APTT, FX:C and FX:Ag were 15.8 s, 42.2 s, 31%, 45%, respectively. The results of her father and other family members were all within the normal range. Genetic analysis has revealed a heterozygous G to A mutation in the proband at position 28076 in exon 8 of the F10 gene, which resulted in a p.Gly363Ser substitution. The same mutation was also found in her mother and grandmother. No mutation of the F10 gene was found in her father. Gly363Ser may result in changes in the secondary structure of the FX protein and reduction of its activity.
CONCLUSIONThe g.28076G to A(p.Gly363Ser) mutation of the F10 gene probably underlies the FX deficiency in this pedigree. The mutation was discovered for the first time in Chinese patients.
4.Phenotypic and genetic analysis of two pedigrees affected with hereditary coagulation FXII deficiency.
Shanshan LI ; Chenfang SHEN ; Kuangyi SHU ; Jie LIU ; Xiaoou WANG ; Fanfan LI ; Xiao YANG ; Zhaohua ZHANG ; Bi CHEN ; Minghua JIANG
Chinese Journal of Medical Genetics 2018;35(6):800-803
OBJECTIVE:
To carry out phenotypic and genotypic analysis for two Chinese pedigrees affected with coagulation factor XII (F XII) deficiency.
METHODS:
Plasma prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), thrombin time (TT), and blood coagulation factor VIII, IX, XI, XII activity (FVIII:C, FIX:C, FXI:C, FXII:C) were determined with one stage clotting assay on a STAGO coagulation analyzer. FXII antigen was determined with an enzyme linked immunosorbent assay (ELISA). The 14 exons and their flanking sequences of the F12 gene were subjected to PCR amplification and Sanger sequencing. The conservation and structure of mutant protein were analyzed with MegAlign software and PYMOL software.
RESULTS:
The APTT of the probands was significantly prolonged, while their FXII:C and FXII:Ag were significantly reduced. Genetic analysis of the proband has revealed three novel mutations in the F12 gene, including g.5972G>A splice site mutation in intron 5, g.8810_8814delGTCTA in exon 14, and g.6259G>A (p.Pro182Leu) in exon 7. In addition, a previously known mutation IVS13-1G>A has been found.
CONCLUSION
Four mutations have been identified in the two Chinese pedigrees, among which three were novel. Above mutations probably played a role in the defect of FXII in the two pedigrees.
Exons
;
Factor XII
;
genetics
;
Factor XII Deficiency
;
genetics
;
Genetic Testing
;
Humans
;
Pedigree
5.Analysis of a pedigree affected with congenital dysfibrinogenemia due to a novel Gly31Glu mutation of FGA gene.
Xiaoou WANG ; Xiao YANG ; Wei YANG ; Kuangyi SHU ; Fanfan LI ; Jie LIU ; Zhaohua ZHANG ; Shanshan LI ; Minghua JIANG
Chinese Journal of Medical Genetics 2019;36(9):901-904
OBJECTIVE:
To analyze the phenotype and genotype of a pedigree affected with congenital dysfibrinogenemia.
METHODS:
Liver and kidney functions of the proband and her relatives were determined. Coagulation tests including prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time(TT), fibrin(ogen) degradation products (FDPs), D-dimer(D-D) and the calibration experiment of protamine sulfate of against plasma TT were detected in the proband and her predigree members. The activity and antigen of fibrinogen (Fg) in plasma were measured by Clauss method and immunonephelometry method, respectively. All of the exons and exons-intron boundaries of the three fibrinogen genes (FGA, FGB and FGG) were subjected to PCR amplification and Sanger sequencing. Potential influence of the suspected mutations were analyzed with bioinformatics software including PolyPhen-2, SIFT and Mutation Taster.
RESULTS:
The proband had normal PT, APTT, FDPs, D-D and prolonged TT (31.8 s). The activity of fibrinogen (Fg) in plasma was significantly decreased but the antigen was normal. Genetic analysis revealed a heterozygous c.92G>A (p.Gly31Glu) mutation in exon 2 of the FGA gene. Family studies revealed that the mother carried the same mutation. Bioinformatic analysis suggested that the mutation may affect the function of Fg Protein.
CONCLUSION
The dysfibrinogenemia was probably caused by the novel Gly31Glu mutation of the FGA gene.
Afibrinogenemia
;
congenital
;
genetics
;
DNA Mutational Analysis
;
Female
;
Fibrinogen
;
genetics
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Humans
;
Mutation
;
Pedigree
;
Phenotype
6.Clinical and genetic analysis of a pedigree affected with type I hereditary antithrombin deficiency due to a g.2736dupT variant of the AT gene.
Xiao YANG ; Kuangyi SHU ; Jie CHEN ; Fanfan LI ; Xiaoou WANG ; Wei YANG ; Yating YAO ; Xinyi AI ; Bi CHEN ; Minghua JIANG
Chinese Journal of Medical Genetics 2020;37(11):1250-1252
OBJECTIVE:
To analyze the phenotype and genotype of a patient affected with inherited antithrombin deficiency.
METHODS:
All exons and exon-intron boundaries of the AT genes were subjected to PCR amplification and Sanger sequencing. The influence of variants on the disease was predicted using bioinformatic software (MutationTaster).
RESULTS:
The results of all coagulation tests were normal, though the antithrombin activity and antigen content of the proband and his father have decreased significantly (34%, 48% and 12.97 mg/dL, 15.60 mg/dL, respectively). His mother was normal. Genetic analysis revealed that the proband and his father both carried a heterozygous g.2736dupT variant of the AT gene. Bioinformatic analysis suggested that the variant may be pathogenic.
CONCLUSION
The proband and his father both had type I hereditary antithrombin deficiency caused by a g.2736dupT variant of the AT gene. The variant was unreported previously.
Antithrombin III/genetics*
;
Antithrombin III Deficiency/genetics*
;
DNA Mutational Analysis
;
Genetic Testing
;
Heterozygote
;
Humans
;
Male
;
Mutation
;
Pedigree
7.A case of inherited afibrinogenemia caused by an IVS7-12A>G splice mutation of FGG gene.
Xiaoou WANG ; Xiao YANG ; Jinle WANG ; Kuangyi SHU ; Fanfan LI ; Wei YANG ; Jichen RUAN ; Shishi WANG ; Minghua JIANG
Chinese Journal of Medical Genetics 2020;37(12):1391-1394
OBJECTIVE:
To explore the genetic basis for a Chinese pedigree affected with inherited afibrinogenemia.
METHODS:
For the proband and his family members, prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), Fibrin(ogen) degradation products (FDPs), D-dimer (D-D), plasminogen activity (PLG:A) and the TT mixed experiment with protamine sulfate were determined with a STAGO-R automatic coagulation analyzer. The activity and antigen of fibrinogen (Fg) in plasma were measured with the Clauss method and immunonephelometry method, respectively. All exons and flanking regions of the fibrinogen genes (FGA, FGB and FGG) were amplified by PCR and directly sequenced. Human Splicing Finder software was used to predict and score the change of splicing site caused by the mutation.
RESULTS:
The proband showed normal FDPs and D-D but significantly prolonged TT, PT and APTT. The activity and antigen of fibrinogen in plasma were significantly decreased (<0.1 g/L). His young sister and parents showed slightly prolonged TT (18.20-18.50 s) and decreased fibrinogen activity (1.27-1.54 g/L) and fibrinogen antigenic content (1.34-1.56 g/L). Genetic testing revealed that the proband has carried homozygous IVS7-12A>G (g.4147A>G) mutations of the FGG gene, for which his parents and young sister were heterozygous. As predicted by Human Splicing Finder and Mutation Taster software, the variant may generate a new splicing site which can extend the sequence of exon 7 by 11 bp, with alteration of the coding sequence. PROVEAN suggested the variant to be deleterious.
CONCLUSION
The afibrinogenemia of the proband may be attributed to the FGG IVS7-12A>G variant, which was unreported previously.
Adult
;
Afibrinogenemia/genetics*
;
Female
;
Fibrinogen/genetics*
;
Heterozygote
;
Humans
;
Male
;
Mutation
;
Pedigree
8. Analysis of a pedigree affected with congenital dysfibrinogenemia due to a novel Gly31Glu mutation of FGA gene
Xiaoou WANG ; Xiao YANG ; Wei YANG ; Kuangyi SHU ; Fanfan LI ; Jie LIU ; Zhaohua ZHANG ; Shanshan LI ; Minghua JIANG
Chinese Journal of Medical Genetics 2019;36(9):901-904
Objective:
To analyze the phenotype and genotype of a pedigree affected with congenital dysfibrinogenemia.
Methods:
Liver and kidney functions of the proband and her relatives were determined. Coagulation tests including prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time(TT), fibrin(ogen) degradation products (FDPs), D-dimer(D-D) and the calibration experiment of protamine sulfate of against plasma TT were detected in the proband and her predigree members. The activity and antigen of fibrinogen (Fg) in plasma were measured by Clauss method and immunonephelometry method, respectively. All of the exons and exons-intron boundaries of the three fibrinogen genes (
9. A nested case-control study of cruciferous vegetables intake, urinary isothiocyanates level and lung cancer risk among men in urban Shanghai
Jing WANG ; Honglan LI ; Xiao MA ; Lihua HAN ; Jie FANG ; Lifeng GAO ; Xiaoou SHU ; Yongbing XIANG
Chinese Journal of Preventive Medicine 2018;52(8):816-821
Objective:
To investigate the association between consumption of cruciferous vegetables (CV), level of urinary isothiocyanates (ITC) and the risk of lung cancer among man in urban Shanghai.
Methods:
A nested case-control study was conducted within the Shanghai Men's Health Study. Using incidence density sampling with a 2∶1 control to case selection ratio, 885 controls were selected to match 443 lung cancer cases diagnosed prior December 31, 2010. A food-frequency questionnaire was administered to estimate CV consumption. The high performance liquid chromatography method was applied to measure urinary ITC level. The CV intake and urinary ITC level were divided into quartiles according to distribution of control group. The lowest quartile was as a reference group. Conditional logistic regression model was used to analyze the relationship between CV intake, urinary ITC level and the risk of lung cancer.
Results:
The cruciferous vegetables intake median (
10.Chinese expert consensus on the diagnosis and treatment of traumatic cerebrospinal fluid leakage in adults (version 2023)
Fan FAN ; Junfeng FENG ; Xin CHEN ; Kaiwei HAN ; Xianjian HUANG ; Chuntao LI ; Ziyuan LIU ; Chunlong ZHONG ; Ligang CHEN ; Wenjin CHEN ; Bin DONG ; Jixin DUAN ; Wenhua FANG ; Guang FENG ; Guoyi GAO ; Liang GAO ; Chunhua HANG ; Lijin HE ; Lijun HOU ; Qibing HUANG ; Jiyao JIANG ; Rongcai JIANG ; Shengyong LAN ; Lihong LI ; Jinfang LIU ; Zhixiong LIU ; Zhengxiang LUO ; Rongjun QIAN ; Binghui QIU ; Hongtao QU ; Guangzhi SHI ; Kai SHU ; Haiying SUN ; Xiaoou SUN ; Ning WANG ; Qinghua WANG ; Yuhai WANG ; Junji WEI ; Xiangpin WEI ; Lixin XU ; Chaohua YANG ; Hua YANG ; Likun YANG ; Xiaofeng YANG ; Renhe YU ; Yongming ZHANG ; Weiping ZHAO
Chinese Journal of Trauma 2023;39(9):769-779
Traumatic cerebrospinal fluid leakage commonly presents in traumatic brain injury patients, and it may lead to complications such as meningitis, ventriculitis, brain abscess, subdural hematoma or tension pneumocephalus. When misdiagnosed or inappropriately treated, traumatic cerebrospinal fluid leakage may result in severe complications and may be life-threatening. Some traumatic cerebrospinal fluid leakage has concealed manifestations and is prone to misdiagnosis. Due to different sites and mechanisms of trauma and degree of cerebrospinal fluid leak, treatments for traumatic cerebrospinal fluid leakage varies greatly. Hence, the Craniocerebral Trauma Professional Group of Neurosurgery Branch of Chinese Medical Association and the Neurological Injury Professional Group of Trauma Branch of Chinese Medical Association organized relevant experts to formulate the " Chinese expert consensus on the diagnosis and treatment of traumatic cerebrospinal fluid leakage in adults ( version 2023)" based on existing clinical evidence and experience. The consensus consisted of 16 recommendations, covering the leakage diagnosis, localization, treatments, and intracranial infection prevention, so as to standardize the diagnosis and treatment of traumatic cerebrospinal fluid leakage and improve the overall prognosis of the patients.