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.Genetic analysis of a juvenile with maturity-onset diabetes of the young type 12.
Yue LUO ; Jiahui JIN ; Liyi LI ; Huiping WU ; Xiaoou SHAN
Chinese Journal of Medical Genetics 2021;38(9):891-894
OBJECTIVE:
To explore the genetic basis for a juvenile with maturity-onset diabetes of the young type 12(MODY12).
METHODS:
High-throughput sequencing was carried out to screen for the variants. Candidate variant was verified by Sanger sequencing. Pathogenity of the variant was predicted by searching the genetic databases and analysis by using bioinformatic software.
RESULTS:
Genetic testing indicated that the patient and his mother have both carried a heterozygous c.3976G>A variant (p.Glu1326Lys) in exon 32 of the ABCC8 gene. Prediction of the protein structure suggested the variant to be deleterious. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be uncertain significance.
CONCLUSION
Whether the c.3976G>A variant of the ABCC8 gene is the cause of the disease in this patient or not depends on the functional studies and more case data. Above finding has enriched the spectrum of ABCC8 gene variants.
Diabetes Mellitus, Type 2/genetics*
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Genetic Testing
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Genomics
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High-Throughput Nucleotide Sequencing
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Humans
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Mutation
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.Dual-energy computed tomography assessment of monosodium urate load predicts gout flare risk—a prospective observational cohort study
Rui ZHOU ; Xiaobo AI ; Rongrong SUN ; Zhen LIU ; Xiaoou JIN ; Feng ZHANG ; Maichao LI ; Xiaomei XUE ; Changgui LI ; Lin HAN
Chinese Journal of Endocrinology and Metabolism 2024;40(7):573-579
Objective:To investigate whether dual-energy computed tomography(DECT) measurement of monosodium urate(MSU) crystal loading can predict the risk of gout flares.Methods:A single-center, prospective, observational study included 229 gout patients initially diagnosed at the Gout Clinic of Qingdao University from August 2021 to February 2022. The patients underwent MSU assessment of the bilateral feet using DECT. Following enrolment, all patients commenced uric acid-lowering therapy(ULT) and were followed up at 3 and 6 months. Patients who experienced at least one flare within 6 months were compared with those who did not, and the odds ratio( OR) for the risk of gout flares was calculated. Results:Patients who experienced gout flare had a significantly longer disease duration[(6.69±5.42) vs(4.14±4.86) years, P<0.01], a higher number of flares in the past year(4.80±1.73 vs 2.02±1. 23, P<0.01), a higher proportion of fatty livers(11.0% vs 1.4%, P<0.05), and a greater volume of MSU crystals in the feet[(3.52±9.74) vs(0.29±0.98)cm 3,P<0.05] compared to patients without gout flare. The results of the multifactorial logistic regression analysis indicated that the number of flares in the past year( OR=1.295, 95% CI 1.032-1.613, P<0.05) and feet MSU crystal volume( OR=3.245, 95% CI 1.164-9.064, P<0.05) were independent risk factors for gout flares. The receiver operating characteristic(ROC) curve indicated the integration of the MSU prediction model into the clinical prediction model resulted in a comprehensive prediction model with an area under curve(AUC) value of 0.780(95% CI 0.710-0.840), sensitivity of 0.83, and specificity of 0.62. Internal validation of the comprehensive prediction model using the Bootstrap method yielded a C-index of 0.770(95% CI 0.701-0.833) for predicting flares. The calibration curve of the model demonstrated a good fit between the predicted probability of flares and the actual probability, indicating high calibration accuracy. Conclusion:The volume of MSU crystals in the feet is an independent risk factor for flares following ULT. A larger volume of MSU crystals in the foot increases the likelihood of a flare. This study provides a basis for early prediction of flare and a reference for early preventive treatment.
5.Structure design and testing of drug micro-jetting multifunctional system.
Yuehua LIAO ; Huaiyuan SUN ; Wanchen YAO ; Wentao JIN ; Xiaoou LI
Journal of Biomedical Engineering 2019;36(6):1032-1037
For the researches relating to the biomedical fields such as preparation of drug micro-particulates and biomedical materials coating, according to the modular design concept and combing the piezoelectric micro-jetting technology with electromechanical engineering and automatic control technology, the drug micro-jetting multifunctional system was designed, which included the spraying support subsystem, - motion platform, -axis subsystem and rapid installation subsystem. The drug micro-jetting multifunctional system was run and adjusted. The versatility, rationality and feasibility of this system were validated by the experiments of amoxicillin microcapsule preparation, titanium alloy drug-loaded coating preparation and balloon electrode coating preparation. It was shown that the system can be used as basic platform in multi-disciplinary cross technology research such as biomedical engineering, pharmaceutical engineering and so on.
Alloys
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Drug Delivery Systems
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Electrodes
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Titanium