Objective To study possible clinical relationships of myeloperoxidase (MPO) and carotid atherosclerosis in diabetic patients on maintenance hemodialysis(MHD).Methods Levels of plasma MPO and serum elastase (ELT) of diabetic patients on MHD were determined by enzyme-linked immunosorbent assay.Carotid intima media thickness(CIMT),quantity and area of carotid plaque were measured by B-mode ultrasonography.Results Plasma MPO was significantly higher after hemodialysis(HD) than before HD(414.6 (198.9,671.5) μg/L vs 176.4 (69.9,243.3) μg/L,Z =-4.51,P ＜ 0.01).There was no significant difference of serum ELT before and after HD(198.0(146.9,270.5) μg/L vs 230.9(40.2,308.0) μg/L,Z =-1.87,P ＞ 0.05).There was positive correlation between the age and CIMT,quantity or area of carotid plaqueor(correlation coefficient:0.764,0.416 and 0.446 respectively,P ＜ 0.01 or P ＜ 0.05),There was positive correlation between MPO level before HD and age,Levels of serum ELT before HD,or CIMT(correlation coefficient:0.592,0.476 and 0.810 respectively,P ＜ 0.01).There was positive correlation between MPO level after HD and levels of serum ELT after HD (correlation coefficient:0.364,P ＜ 0.05).There was no correlation between the levels of plasma MPO after HD and CIMT,quantity or area of carotid plaqueor (P ＞ 0.05).Conclusion (1) Age and MPO level before HD contribute to carotid atherosclerosis in patients on MHD.(2)There was no relation between higher MPO level after HD and carotid atherosclerosis.

Objective To explore the relationship among single nucleotide polymorphism (SNP) of excision repair cross-complementing 1 (ERCC1) gene,chemotherapy sensitivity and clinical outcomes of epithelial ovarian cancer (EOC) patients treated with platinum.Methods Six tag single nucleotide polymorphisms (tagSNP;rs11615,rs3212986,rs735482,rs3212955,rs12610134 and rs3212958) were chose from ERCC1 gene.The genotypes of 6 tagSNP were determined by Snapshot method in 220 EOC patients.Primary clinical outcomes parameter contained EOC patients'responses to platinum-based chemotherapy,progression-free survival (PFS) and overall survival (OS) were analysed.Results The rs11615 C/T SNP of ERCC1,CC,CT and TT genotype frequencies were 53.1％,45.6％,1.4％ in responders to platinum-based chemotherapy,while 52.0％,35.6％,12.3％ in non-responders,respectively,in which there was significant difference between the two groups(P =0.002).Compared with the patients with CC genotype,the patients carrying TT genotype had a significantly poor response to platinum-based chemotherapy (OR =6.22,95％ CI:1.12-34.42).Similarly,the genotypes frequencies distribution of rs11615 C/T SNP of ERCC1 was different between the recurrence and non-recurrence group,death and survival group (all P ＜ 0.05).Kaplan-Meier survival analysis showed that the genotypes frequencies distribution of rs11615 C/T SNP of ERCC1 was associated with PFS and OS(P ＜ 0.01) of EOC patients.Cox's multivariate analysis suggested that patients with TT genotype had a shorter PFS (HR =2.19,95 ％ CI:1.14-4.22,P =0.009) and OS (HR =2.22,95 ％ CI:1.06-4.64,P =0.021) compared with those carrying CC genotype [adjusting for age,International Federation of Gynecology and Obstetrics (FIGO) stage,pathological type,grade and tumor residual size].The genotypes frequencies distribution of rs3212986,rs735482,rs3212955,rs12610134 and rs3212958 SNP of ERCC1 did not show the significant difference between the responders to platinum-based chemotherapy and non-responders.The other 5 tagSNP may not be associated with the PFS and OS of EOC patients (all P ＞ 0.05).Conclusion The rs 11615 SNP of ERCC1 may become a valuable prognostic biomarker for EOC patients treated with platinum-based chemotherapy.

To investigate the clinical features, genetic diagnosis, and treatment of a patient with Prader-Willi syndrome(PWS). For a case with clinically suspected PWS, methylation specific PCR(MSPCR)amplification was applied to CpG islands of SNRPN(exon α)gene locus in the 15q11-q13. Furthermore, the diagnosis was comfirmed by the method of bisulfite sequencing PCR(BSPCR). Metabolic status before and after the operation of sleeve gastrectomy were compared. Absence of amplification of paternal allele on chromosome 15q11-q13 was detected in the case by MSPCR, different from the normal control. Results of BSPCR further proved a full methylation of CpG islands in the SNRPN gene locus. Four months after sleeve gastrectomy, systemic metabolic status and ventricular function were improved. MSPCR and BSPCR were both consistent with genetic diagnosis of PWS. Weight loss surgery is expected to be a major therapy of this disease.

Objective To investigate the adrenal steroidogenic function in genotype-proven heterozygotes carrying mutations in CYP17A1 gene in vivo. Methods Eight patients and 14 family members from 5 families with 17-hydroxylase/17,20-lyase deficiency (17OHD) were recruited. The mutations of the CYP17A1 gene in these individuals were screened by direct sequencing of PCR products. The hormonal response to ACTH was evaluated in the 14 genotype-proven carriers and 45 age- and sex-matched normal subjects. Results Three mutations were found in 5 unrelated families. 14 carriers with CYP17A1 mutation were identified, including 7 heterozygotes with D487_F489del, 6 with Y329fs, and 1 for H373L. Compared to the normal subjects, the carriers exhibited lower basal and ACTH-stimulated cortisol levels, but higher ACTH-stimulated corticosterone level. The ratios of corticosterone to cortisol in the genotype-proven heterozygotes were higher than those of normal individuals at baseline and following ACTH-stimulation. Similarly, progesterone level and ratios of progesterone to 17-hydroxyprogesterone in the male heterozygotes were also higher than that of normal individuals before and after stimulation. No significant differences were observed in the hormone levels between two genotypes (D487_F489del vs Y329fs). Conclusions Genotype-proven carriers of 17OHD without apparent clinical symptoms exhibit decreased enzyme activity,analogous to mildly impaired adrenal 21-hydroxylase activity in the carriers of CYP21 A2 gene mutation.

Objective To investigate the effect of flash glucose monitoring (FGM) on ambulatory glucose profile of only oral antidiabetic drugs treated patients with type 2 diabetes mellitus. Methods Twenty-eight type 2 diabetic mellitus patients with only oral antidiabetic drugs treatment from August 2017 to January 2018 were enrolled. All the patients were exposed to FGM for 14 d without changing the original treatment and encouraged to manage self-behavior by adjusting diet and activity based on the blood glucose data obtained from the real-time scanning. The changes in glucose profile during the FGM period were observed, including estimated glycated hemoglobin (HbA1c), standard deviation of blood glucose, variable coefficient of blood glucose, mean amplitude of glycemic excursions, time in range (blood glucose 3.9 to 10.0 mmol/L), area under the curve hyperglycemia (blood glucose> 10.0 mmol/L) and area under the curve hypoglycemia (blood glucose<3.9 mmol/L). The blood glucose levels on second day and thirteenth day were used as baseline and end point respectively. Results All of the 28 patients did not change their anti-diabetic drug therapy and there were no adverse events occurred. The estimated HbA1c was significantly lower than the baseline HbA1c: (6.90 ± 1.48)% vs. (7.57 ± 1.35)%, and there was statistical difference (P = 0.004). The standard deviation of blood glucose, variable coefficient of blood glucose, mean amplitude of glycemic excursions, area under the curve hyperglycemia and area under the curve hypoglycemia at end were significantly lower than those at baseline: (2.07 ± 0.86) mmol/L vs. (2.44 ± 0.86) mmol/L, 0.26 ± 0.11 vs. 0.30 ± 0.11, (5.32 ± 2.75) mmol/L vs. (6.76 ± 3.06) mmol/L, 265 (0, 1 310) vs. 351 (107, 2 177) and 0 (0, 0) vs. 0 (0, 19), the time in range at end was significantly higher than that at baseline: (1 069 ± 386) min vs. (921 ± 449) min, and there were statistical differences (P＜0.05 or＜0.01). The rate of scanning was (12.92 ± 4.87) times/d. Conclusions FGM could be applied by type 2 diabetic mellitus patients to make self-glycemic management without changing therapy, reduce the estimated HbA1c,and hypoglycemia, and improve the glucose fluctuations, which may result from real-time scanning to find abnormal glycemia and adjust daily behavior.

Objective To analyze the clinical features and genotypes of adult patients with simple virilizing form of 21-hydroxylase deficiency (SV 21-OHD).Methods This is a retrospective study including 33 patients with SV 21-OHD from January 2015 to March 2018 in the Ninth People's Hospital of Shanghai Jiao Tong University School of Medicine.Results The diagnostic age of the patients was (26.3± 6.5) years old.All patients presented with signs of masculinization,such as short stature (100％),clitoromegaly/microphallus (89.65％,26/29),undeveloped breasts (82.76％,24/29),deep voice (55.17％,16/29) and primary amenorrhea (89.65％,26/29).The serum levels of 17-hydroxyprogesterone (17-OHP),androstenedione (AD) and testosterone were significantly elevated in 90.9％,93.9％ and 91.2％ of the patients,respectively.Thirteen types of mutations were identified in CYP21A2 from these patients.Among them,I173N accounted for 40％ and I2 G accounted for 18.33％.Four patients were found with multiple mutations in CYP21A2.Conclusions Short stature,clitoromegaly/microphallus and primary amenorrhea are the most common clinical features in adult patients with SV 21-OHD.Serum levels of 17-OHP and AD are important indices for the diagnosis and monitoring of the patients.I173N and I2 G are the two most prevalent mutations in patients of the present study.Limitation of clinical recognition and delay in treatment contribute to the short stature of the SV 21-OHD patients.