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1.
Basic & Clinical Medicine ; (12): 26-31, 2018.
Article in Chinese | WPRIM | ID: wpr-664999

ABSTRACT

Objective To detect SRY mutation in 46,XY disorder of sex development (46,XY DSD), analyze SRY mutation frequency , and to define the clinical features of the patients with the mutation .Methods A total of sixty-three 46,XY DSD patients admitted to department of endocrinology of Peking Union Medical College Hospital from 2009 to 2014 were enrolled and detailed clinical data were collected .Genomic DNA was extracted from peripheral blood, and SRY was amplified and sequenced .The mutation was identified by comparing with the online database , and the clinical features were analyzed .Results Three novel mutations of SRY gene were detected in 3 of 63 pa-tients (5%).The 3 patients' social genders were all female and their karyotypes are 46, XY.Vaginal and uterine structures were present .Sex hormone profiles were consistent with hypergonadotropic hypogonadism .The 3 novel mutations were Pro131His, R76C and L35Afs*25.The former two were mutations in the nuclear localization signal regions of HMG box and highly-conservative amino acids were affected .The latter one was a frameshift mutation re-sulting in deletion of the entire HMG box .All these were presumably affecting the functional domain of SRY protein severely.Conclusions This study identified three novel mutations of SRY gene causing 46,XY DSD.The detection rate of SRY mutation was about 5%.It is recommended that SRY testing be performed to identify the etiology of the disease .

2.
Journal of Shanghai Jiaotong University(Medical Science) ; (12): 1212-1218, 2017.
Article in Chinese | WPRIM | ID: wpr-661567

ABSTRACT

Objective·To investigate the relationship between obesity and chronic kidney disease (CKD) in a community-based study among a middle-aged and elderly Chinese population. Methods·A survey of 10375 inhabitants aged 40 years or older in Jiading District of Shanghai was performed using cluster sampling. All the subjects were recruited to undergo questionnaire interview, anthropometric measurements, and biochemical measurements. Blood and urine samples were collected to measure biochemical features, including plasma glucose, lipid profiles, liver and renal function, as well as urinary albumin and creatinine. Obesity status was diagnosed according to the World Health Organization (WHO) criteria. According to body mass index (BMI) levels, the subjects were divided into normal weight group (BMI<25 kg/m2), overweight group (25 kg/m2 ≤ BMI<30 kg/m2) and obesity group (BMI ≥ 30 kg/m2). The estimated glomerular filtration rate (eGFR) was calculated based on American Chronic Kidney Disease-Epidemiology Collaboration (CKD-EPI) equation. Logistic regression analysis was used to analyze the risk of CKD among people with different BMI levels. Results·Increased BMI levels were associated with more unfavorable metabolic profiles. After a variety of factors were adjusted,each 1 kg/m2 increment of BMI was associated with a 9% higher risk of prevalent CKD, and the odds ratio (OR) was 1.09 (95% CI:1.07-1.12). Results from multivariate Logistic regression analysis showed that in the total population, compared with individuals in the normal weight group, those in the overweight and obesity groups had 51% (OR=1.51, 95% CI: 1.27-1.78) and 181% (OR=2.81, 95% CI: 2.20-3.61) higher risk of prevalent CKD. Conclusion·In the middle-aged and elderly community population in China, overweight and obesity are associated with an increased risk of prevalent CKD.

3.
Journal of Shanghai Jiaotong University(Medical Science) ; (12): 1212-1218, 2017.
Article in Chinese | WPRIM | ID: wpr-658648

ABSTRACT

Objective·To investigate the relationship between obesity and chronic kidney disease (CKD) in a community-based study among a middle-aged and elderly Chinese population. Methods·A survey of 10375 inhabitants aged 40 years or older in Jiading District of Shanghai was performed using cluster sampling. All the subjects were recruited to undergo questionnaire interview, anthropometric measurements, and biochemical measurements. Blood and urine samples were collected to measure biochemical features, including plasma glucose, lipid profiles, liver and renal function, as well as urinary albumin and creatinine. Obesity status was diagnosed according to the World Health Organization (WHO) criteria. According to body mass index (BMI) levels, the subjects were divided into normal weight group (BMI<25 kg/m2), overweight group (25 kg/m2 ≤ BMI<30 kg/m2) and obesity group (BMI ≥ 30 kg/m2). The estimated glomerular filtration rate (eGFR) was calculated based on American Chronic Kidney Disease-Epidemiology Collaboration (CKD-EPI) equation. Logistic regression analysis was used to analyze the risk of CKD among people with different BMI levels. Results·Increased BMI levels were associated with more unfavorable metabolic profiles. After a variety of factors were adjusted,each 1 kg/m2 increment of BMI was associated with a 9% higher risk of prevalent CKD, and the odds ratio (OR) was 1.09 (95% CI:1.07-1.12). Results from multivariate Logistic regression analysis showed that in the total population, compared with individuals in the normal weight group, those in the overweight and obesity groups had 51% (OR=1.51, 95% CI: 1.27-1.78) and 181% (OR=2.81, 95% CI: 2.20-3.61) higher risk of prevalent CKD. Conclusion·In the middle-aged and elderly community population in China, overweight and obesity are associated with an increased risk of prevalent CKD.

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