Juvenile hemochromatosis is an autosomal recessive disease characterized by progressive tissue iron overload which leads to irreversible organ damage and even death.This disease is mainly caused by mutations in two genes:hemojuvelin gene and hepcidin gene.Different mutations have different phenotype.The two genes may act as modifying genes in HFE hemochromatosis.Hepcidin secreted by liver plays a central role in the regulation of iron homeostasis.HJV can act as a bone morphogenetic protein(BMP)co-receptor which is required for HJV to regulate hepcidin expression and iron homeostasis.Recent researches suggest that the bone morphogenetic protein(BMP)signaling pathway mediated by HJV is a significant mechanism for HJV to regulate hepcidin expression and iron homeostasis.HJV mutant impaires BMP signaling which results in hepcidin expression decrease and abnormal iron metabolism.

Objective To investigate the clinical characteristic of ocular fundus complications in systemic lupus erythematosus (SLE). Methods In 25 cases of SLE with the ocular fundus complications, the ocular fundus, the other ocular tissues, general lesions,and antinuclear antibody (ANA), anti-double-stranded DNA(anti-dsDNA), complement 3 (C 3), complement 4 (C 4)and erythrocyte sedimentation rate(ESR) were analyzed retrospectively. Results In the 25 cases, "classic" SLE retinopathy in 15 (25 eyes), retinal vein occlusion (RVO) in 9 (12 eyes), RVO combined with retinal artery occlusion in 1 (2 eyes), exudative retinal detachment in 1 (2 eyes), vitreous hemorrhage combined with neovascular glaucoma in 1 (1 eye), and optic disc edema except RVO in 3 (6 eyes) were found. Nine cases accompanied with other ocular signs and 21 with general lesions. Positive ANA and anti-dsDNA and elevated ESR in all of the patients, decreasing C 3 in 19, and C 4 in 17 were found. Conclusions SLE can cause serious ocular fundus complications accompanied with other ocular signs. Regular ophthalmic examination should be performed on the patients with SLE to detect and treat the ocular complications promptly.

50 mm/h were detected in all the patients. Decreasing C 3 in 6 patients and C 4 in 5 were found. Conclusions SLE is one of the general conditions causing retinal vein occlusion. Visual acuity and barrier of retinal vein and capillary are damaged seriously in patients with retinal vein occlusion caused by SLE, which may be accompanied with other ocular or general lesions. It is suggested that retinal vein occlusion is relative with SLE activity.

Objective To analyze the false-positive results of Treponema pallidum antibody caused by 3 different assay in comparison with Treponema pallidum hemagglutination assay (TPHA).Methods Research group included 3957 clinically asymptomatic syphilis patients,and control group was 344 outpatients with sex-transmitted diseases (STD).The serum samples from the patients who were TPHA-positive were tested in parallel by enzymeimmunoassay (EIA) and syphilis toluidine red untreated serum test (TRUST).Western blot (WB) was performed as confirmatory test.Results In the clinically asymptomatic patients,60 were TPHA-positive.Among them 57 were confirmed by western blot assay,and 1 was false-positive and 2 were borderline in WB.Of the 60 TPHA-positive patients,53 were positive in EIA and 23 were positive in TRUST.In STD patients 40 were TPHA,WB and EIA-positive but 32 were TRUST-positive.Conclusions The results of TPHA and EIA were consistent for diagnosis of syphilis patients who may suffer from previous or latent infection.

Objective To explore the value of the histogram of ultrasound in diagnosing and grading of fatty liver. Methods Ninety subjects were enrolled in normal group, light or moderate to severe fatty liver group (each n=30), respectively. All the subjects underwent histogram of ultrasound of the liver, kidney, spleen and right hepatic vein (RHV), and the ratio of histogram M value of different area were analyzed. Results Statistical differences of the ratio of histogram M value of anterior hepatic tissue of kidney and kidney (AntK) between normal group and two fatty liver groups were detected (P<0.05). The ratio of histogram M value of anterior hepatic tissue of RHV and RHV (AntV) between the normal group and moderate to severe fatty liver group, as well as the light and moderate to severe fatty liver group had statistical differences (P<0.05). When 0.97, 0.78 were used respectively as the critical value of the ratio of histogram M value in diagnosing and grading of fatty liver at AntK and AntV, the sensitivity was all 80.00% and 80.00%, specificity was 85.00% and 70.00%, respectively. Conclusion The ratio of histogram M value of AntK, AntV can be used as the referent index in diagnosing and grading of fatty liver.

Objective To explore the diagnostic value of three-dimensional ultrasound parameters-vascularity index (VI) and the volume of kidney in chronic kidney disease (CKD). Methods A total of 80 CKD patients at different stages and 30 healthy adults were enrolled in the study. VI and the renal volume were calculated with three-dimensional ultrasound, while resistance index (RI), cortical thickness (CT) and the volume of kidney were calculated with two-dimensional ultrasound, and the correlation of those parameters were analyzed statistically. Results VI of CKD2 patients reduced significantly compared with the control group, and RI of CKD3 patients increased significantly, CT of CKD3 patients reduced significantly. The diagnostic sensitivity, specificity and diagnostic value of VI in patients with early and late CKD were all higher than thpse of RI. Compared with the control group, three-dimensional ultrasound of renal volume and two-dimensional ultrasound volume of CKD 1 patients increased significantly, three-dimensional ultrasound volume of CKD2 patients reduced significantly, and two-dimensional ultrasound volume of CKD4 patients reduced significantly. There was significant negative correlation among VI, three-dimensional ultrasound volume, CT, two-dimensional ultrasound volume and pathological change scoring (r=-0.67, -0.52, -0.43, -0.52). Conclusion VI and three-dimensional ultrasound volume can detect renal function damage more earlier and sensitively than RI and two-dimensional ultrasound volume.

ObjectiveTo study the value of quantitive scoring methodby ultrasound in differential diagnosis of thyroid nodule.MethodsTotally 1 360 patients with thyroid carcinoma or nodular goiter were given preoperative ultrasound examination of thyroid. The features of thyroid nodule and their signiifcances in diagnosing thyroid carcinoma were evaluated by logistic regression analysis. Surgical pathology was taken as golden standard. Signiifcant feature was scored as 1 point, and insigniifcant feature was scored as 0 point. In two groups, the data were analyzed statistically.ResultsLow echo, obscure boundary, incomplete or no capsule, incomplete or no halo, aspect ratio≥1, internal lfow, posterior acoustic attenuation, no cystic echo, microcalciifcation and background Hashimoto′s thyroiditis showed correlation with malignancy. There were statistically significant difference between thyroid cancer and nodular goiter in thyroid nodules scores (χ2=802.08,P<0.05). Of 768 thyroid nodules with<6 points, 742 were benign and 24 were malignant. Of 60 thyroid nodules≥10 points, 2 were benign and 58 were malignant. Of 314 thyroid nodules with 8-9 points, 60 were benign and 254 were malignant. Of 368 thyroid nodules with 6-7 points, 155 benign and 213 were malignant.ConclusionsQuantitive scoring of thyroid nodule had clinic signiifcance in differential diagnosis. Thyroid nodule with>8 points accounted for the majority of malignancy and should be considered for surgery.

Objective To study and analysis the effect of different doses of sodium phosphate solution in bowel preparation for colorectal treatment in children. Methods 100 patients who underwent colonoscopic polypectomy treated in our hospital from February 2015 to September 2016 were randomly divided into group A and group B, each group of 50 patients each. A group was treated with 2 bottles of cleansing liquid heating boiling water, B group were treated with 1 bottles of cleansing liquid heating boiling water. The therapeutic effects of the experimental group and the control group were compared and analyzed. Results The tolerance of group B was 78.0%, significantly better than that of group A(50.0%), and the difference was statistically significant (P<0.05). The incidence of adverse reactions in group B was 24.0%, significantly lower than that in group A (60.0%), and the difference was statistically significant (P<0.05). In group B, cleanliness was common in 1 patients and poor in cleanliness in 3 patients. In the A group, 1 patients had poor cleanliness and 2 patients had general cleanliness. There was no significant difference between the two groups. Conclusion 1 bottles of sodium phosphate in intestinal cleaning colorectal bowel preparation effect is good, low incidence rate of adverse reaction, greatly improve the intestinal cleanliness, with further clinical promotion and application significance.

Objective To compare the effects of smoking and non smoking on postoperative pain of laparoscopic cholecystectomy. Methods Sixty patients having underwent selective laparoscopic cholecystectom were divided into smoking group and non smoking group by random digits table with 30 cases each. In smoking group, 14 cases quitted smoking within 1 week before operation. The Fagerstrom test of nicotine dependence (FTND) was evaluated before operation in smoking group, and FTND ≥ 6 scores was in 11 cases. The visual analog score (VAS), Bruggrmarm comfort score (BCS), sedation-agitation score (SAS), immediately, 15 min, and 30 min after entering postanesthesia care unit (PACU) and leaving PACU was evaluated. The operation time, anesthesia time, wake up time, extubation time, PACU time, using rate of remedial measures and untoward reaction were recorded. Results There were no statistical differences in operation time, anesthesia time, wake up time, extubation time, SAS and incidence of untoward reaction between 2 groups (P>0.05). The PACU time and using rate of remedial measures in smoking group were significantly higher than those in non smoking group:(39.7 ± 5.1) min vs. (31.3 ± 6.1) min and 30.0% (9/30) vs. 0, and there were statistical differences (P<0.05). The VAS immediately, 15 min and 30 min after entering PACU and leaving PACU in smoking group was significantly higher than that in non smoking group: (2.90 ± 0.85) scores vs. (1.00 ± 0.83) scores, (2.70 ± 0.47) scores vs. (0.73 ± 0.69) scores, (2.60 ± 0.56) scores vs. (1.13 ± 0.73) scores, (2.23 ± 0.57) scores vs. (1.13 ± 0.73) scores; and the BCS was significantly lower than that in non smoking group:(1.80 ± 0.61) scores vs. (2.90 ± 0.99) scores, (1.90 ± 0.31) scores vs. (2.87 ± 1.00) scores, (2.10 ± 0.31) scores vs. (2.47 ± 0.82) scores, (2.17 ± 0.38) scores vs. (2.47 ± 0.82) scores, and there were statistical differences (P<0.05). The VAS immediately after entering PACU in patients of FTND ≥ 6 scores was significantly higher than that in patients of FTND<6 scores:(3.6 ± 0.7) scores vs. (2.5 ± 0.7) scores, the BCS was significantly lower than that in patients of FTND <6 scores:(1.5 ± 0.5) scores vs. (2.0 ± 0.6) scores, and there were statistical differences (P<0.05). The VAS immediately after entering PACU in patients of non- quit smoking was significantly higher than that in patients of quit smoking: (3.4 ± 0.7) scores vs. (2.4 ± 0.6) scores, and there were statistical differences (P<0.05). Conclusions Smokers have more severe postoperative pain in laparoscopic cholecystectomy and higher postoperative opioid requirement than nonsmokers. Quit smoking before surgery will reduce postoperative pain and related complications. Appropriate increase of analgesic drugs can prevent postoperative pain in patients with smoking.

Objective To study the clinical effects of the Tanreqing injection combined with Danshen-Chuanxiongqin injection for the patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD) and its effects on plasma NO and endothelin-1 (ET-1) levels. Methods A total of 79 patients with AECOPD in our hospital from May 2014 to January 2017 were enrolled in this study. The subjects were randomly divided into the control group (n=39) and the combined therapy group (n=40). The control group were treated with Tanreqing injection, the combined therapy group were treated with Tanreqing injection combined with Danshen-Chuanxiongqin injection.The two groups were treated for 10 days.The clinical effects of the two groups after treatment were compared. The MPAP, PASP, PADP, PaO2, PaCO2, SaO2, NO and ET-1 of the two groups before and after treatment were compared. Results The total efficacy rate of the combined therapy group was 97.5% (39/40), which was significantly higher than 82.1% (32/39) of the control group (x2=5.178,P=0.023).After treatment,the MPAP(25.19 ± 8.71 mmHg vs.35.28 ± 9.52 mmHg,t=4.917),PASP (44.35 ± 12.26 mmHg vs.57.24 ± 11.17 mmHg,t=4.881),PADP(17.16 ± 4.05 mmHg vs.26.40 ± 3.85 mmHg, t=10.38),PaCO2(42.70 ± 6.31 mmHg vs. 51.44 ± 6.83 mmHg, t=5.910)of the combined therapy group were significantly lower than those of the control group(P<0.05).After treatment,the PaO2(73.95 ± 7.82 mmHg vs. 67.21 ± 7.16 mmHg,t=3.993),SaO2(94.86% ± 5.11% vs.83.63% ± 4.27%,t=10.586)of the combined therapy group were significantly higher than those of the control group (P<0.05). After treatment, the plasma NO (55.82 ± 10.08 μmol/L vs.46.34 ± 8.50 μmol/L,t=4.513)of the combined therapy groupwas significantly higher than the control group(P<0.05)and the plasma ET-1(80.41 ± 8.95 ng/L vs.87.68 ± 9.24 ng/L,t=3.552)of the combined therapy groupwere significantly lower than the control group (P<0.05). Conclusions The Tanreqing injection combined with Danshen-Chuanxiongqin injection showed good efficacy for the patients with AECOPD,and the therapy can reduce the pulmonary arterial hypertension and ET-1, improve the lung tissue oxygen supply and NO release, and improve the cardiopulmonary function.