Objective To find out the detection level of the blood routine test in clinical laboratories of basic medical institutions in Hefei ,and to analyze the results of inter‐laboratory comparison among township health centers and community health service cen‐ters in Hefei and explore the main factors .Methods Forty‐three township health centers and community health service centers were randomly selected to conduct field investigations and take blood routine test inter‐laboratory comparison .Results Both 41 .9% of the passing rate and the average score 72 .37 points in Inter‐laboratory comparisons were significantly lower than the An‐hui province clinical inspection center(94 .1% and 95 .97 points) ,the differences were statistically significant(P<0 .05);Comparing to the results of the Anhui province clinical inspection center ,there was statistically significant difference on parameter(WBC ,RBC , Hb ,HCT ,PLT) average pass rate of blood routine test(P<0 .05);the personnel primary education was low ,18 .80% of the staff in clinical laboratories were not professionals ;most of blood analyzers were domestic and 53 .49% of all instruments had been used for more than 5 years;the overall laboratory quality management level was low .Conclusion The blood routine test detection level in clinical laboratories of basic medical institutions in Hefei was far below than that of secondary and tertiary medical institutions .The daily laboratory internal quality control should be strengthened and the quality management system should be improved gradually .

Objective To investigate the association between the six single nucleotide polymorphisms ( SNP),named as rs179247,rsl2101261,rs2284722,rs4903964,rs2300525,rsl7111394 in the intron 1 of thyroid stimulating hormone receptor gene (TSHR) and Graves' disease (GD).MethodsThe genotypes of the six SNPs were genotyped by Taqman probe technique on Fluidigm EP1 platform in 618 GD patients and 646 control subjects.Meanwhile,TSH receptor antibodies (TRAb) of the patients were determined.ResultsAmong the six SNPs,five S NPs were strongly associated with GD,with the most signals at rs179247_G,rs12101261_C,rs4903964 _G (P=2.85×10-10,OR=1.73,95％CI1.46-2.05;P=1.74×10-10,OR=1.73,95％CI 1.46-2.05;P=2.24×10-10,OR=1.69,95％ CI 1.44-1.99 ).The results of logistic regression analysis indicated that rs12101261 and rs4903964 were main susceptibility loci of GD in the intron 1 of TSHR.rs179247_G,rs1210126 1_C,and rs4903964_G were associated with subset of the GD patients with positive TRAb (P=4.24× 10-13,p=5.48× 10-13,P =3.89×10-12 ).Conclusionrs179247,rs12101261,and rs4903964 in TSHR intron 1 were significantly associated with GD in the Chinese Han population from Bengbu city.rs12101261 and rs4903964 were the major susceptibility SNPs associated with GD.TSHR gene may play a main role of susceptibility gene in the subset of GD patients with persistent positive TRAb.

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: Differences in the activated coagulation time (ACT) during ablation and adequate heparin dosing were observed among atrial fibrillation (AF) patients undergoing AF catheter ablation receiving different anticoagulation therapies and the suitable heparin dosing during ablation among patients treated with different anticoagulation therapies was explored. Methods: Patients who received warfarin (n=100), low-molecular-weight heparin (n=100), dabigatran etexilate (n=98, 110 mg, Bid) and rivaroxaban (n=48, 20 mg, Qd) were included. All of them underwent the first AF ablation during January 2016 to December 2017 and patients with hepatic and renal dysfunction were excluded. Initial bolus heparin (100 U/kg, intravenous) was applied to all patients. Additional heparin dosage was added according to the ACT, which was measured in 15-minute interval to maintain the ACT within 250-350 seconds until the end of ablation. Patient characteristics, ACT and complications were compared among various groups. Results: The baseline general characteristics among patients were similar. The baseline ACTs in the dabigatran groups were significantly longer than those in the rivaroxaban group ((133±36) seconds vs. (113±22) seconds, P<0.05). The 15 min ACT in the warfarin group was longer than in the dabigatran group ((259±56) seconds vs. (243±43) seconds, P<0.05). The 15-minute ACTs were significantly longer in the warfarin ((259±56) seconds) and dabigatran ((243±43) seconds) groups compare with low-molecular-weight heparin group ((224±40) seconds) and rivaroxaban group ((226±32) seconds) (all P<0.05). The same trend was also observed in the rate of reaching ACT goal after initial-standard-dosage of heparin (warfarin (53%, 53/100), dabigatran (45%,44/98), low-molecular-weight heparin (28%,28/100), rivaroxaban (23%,11/48), P<0.05). The 1 hour ACT in the warfarin group ((254±49) seconds) was significantly longer than the other three groups (dabigatran (233±33) seconds, low-molecular-weight heparin (226±34) seconds, rivaroxaban (231±30) seconds, all P<0.01). The rate of reaching ACT goal at 1 hour were significantly higher in the warfarin group (66%,35/53) than in the dabigatran group (41%,18/44), and rivaroxaban group (27%,3/11) (all P<0.05). The total heparin required was significantly higher in rivaroxaban group than in the dabigatran and warfarin groups (all P<0.05). During the perioperative period, no patient exhibited any thromboembolic complications, and only a few minor bleeding complications was observed among patients, which was similar between the four groups (P>0.05). Conclusion Higher dosage of heparin is required during AF ablation to achieve the satisfactory anticoagulant intensity for AF patients under dabigatran etexilate (110 mg, Bid), low-molecular-weight heparin and rivaroxaban (20 mg, Qd) anticoagulation therapy before AF ablation.

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.