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 retrospectively analyze the platelet count and related factors in bleeding patients with hematonosis,and to calculate the risk of bleeding when the platelet count is at each exposure level.Methods Retrospective analysis of patients from Department of Hematology Inpatients in Nanjing Drum Tower Hospital,Nanjing First Hospital and Nanjing Jiangning Hospital from July 2013 to June 2017 was collected.And the risk of bleeding for different hematonosis was calculated.Results The tolerance of the 5 categories of hematonosis to low platelet counts is compared:AA and ITP can tolerate lower levels of platelet count;MDS and AML(except M3) are more prone to bleeding;ALL is the most susceptible to bleeding.Conclusion When platelet resources are scarce,priority should be given to ALL,MDS and AML patients,in order to ensure the safety of critically ill patients.For patients with AA and ITP,the platelet infusion threshold may be reduced appropriately,in oder to reduce the incidence of platelet transfusion refractoriness.

Objective:To investigate the expression of microRNA-324-5p (miR-324-5p) and transcription factor forkhead box C1 (FOXC1) in glioma and their relationship with the prognosis of patients.Methods:From March 2012 to March 2015, a total of 72 cases of glioma tissues were collected from glioma patients who were admitted to Chongqing Hygeia Tumor Hospital and the People's Hospital of Nanchuan in Chongqing, and 28 cases of normal human brain tissues resected in craniocerebral surgery were also collected. The expressions of miR-324-5p and FOXC1 mRNA were detected by real-time fluorescent quantitative polymerase chain reaction (qRT-PCR), and the expression of FOXC1 protein was detected by immunohistochemistry. Pearson method was used to analyze the correlation between the expressions of miR-324-5p and FOXC1 in glioma tissues; Kaplan-Meier method was used to analyze the survival of patients with glioma; Cox regression analysis was used to analyze the risk factors affecting the prognosis of patients with glioma.Results:FOXC1 protein was mainly located in the cytoplasm of glioma, and its positive expression rate in glioma tissues was 81.94% (59/72), which was significantly higher than that in normal brain tissues [17.86% (5/28)], and the difference was statistically significant ( χ2 = 35.938, P<0.01). Compared with normal brain tissues, the expression of miR-324-5p was down-regulated in glioma tissues (0.62±0.19 vs. 0.98±0.02, t = 9.974, P < 0.05), and the expression of FOXC1 mRNA was up-regulated (1.41±0.29 vs. 0.99±0.02, t = 7.633, P < 0.05). The expressions of miR-324-5p and FOXC1 protein were correlated with the number of primary lesions, differentiation degree, TNM stage and lymph node metastasis of glioma (all P<0.05). Pearson analysis showed that the expressions of miR-324-5p and FOXC1 mRNA were negatively correlated ( r = -0.550, P<0.01). The 5-year overall survival rate of patients in miR-324-5p high-expression group was significantly higher than that of patients in miR-324-5p low-expression group (45.71% vs. 24.33%, χ2 = 6.531, P = 0.011), and the 5-year overall survival rate of patients in FOXC1 protein high-expression group was significantly lower than that of patients in FOXC1 protein low-expression group (30.41% vs. 42.34%, χ2 = 3.631, P = 0.047). Multivariate Cox regression analysis showed that low differentiation, TNM stage Ⅲ-Ⅳ, lymph node metastasis, low expression of miR-324-5p and high expression of FOXC1 protein were independent risk factors for prognosis of glioma patients (all P < 0.05). Conclusions:The expression of miR-324-5p is low and the expression of FOXC1 is high in glioma. They may be involved in the regulation of tumor differentiation and metastasis, and related to the poor prognosis of patients. They may be potential therapeutic targets for glioma.

Objective To evaluate the clinical effects and safety of percutaneous nephrolithotomy (PCNL) by middle renal calice used as the main target for the treatment of staghorn stones with the combination of pneumatic and ultrasonic lithotrite.Methods Clinical data of 73 patients underwent PCNL by middle renal calices as main access with 57 incomplete staghorn stones and 35 complete staghorn stones.To observe the situation calculus removal rate and complications.Results Seventy cases (88 sides) underwent one session PCNL by single access tract (middle caliees),3 cases (4 sides) underwent one session PCNL by double access tracts (2 cases by middle and low calices,1 case by up and middle caliees).After the first period of lithoclasty,17 patients (25 sides) residual stones and the stone removal rate 72.8％ (67/92),among these patients,1 case (1 side) had fragments of lateral renal calyeeal stones with no further treatment.Other 16 cases (24 sides)underwent second session PCNL,all were treated by single access tract (middle calices) and 2 cases (2 sides)had extracorporeal shock wave lithotripsy before the second PCNL.After the second period of lithoclasty,76 sides composed of 27 complete staghorn stones and 49 incomplete staghorn stones had no residual fragments with the stone removal rate 82.6％ (76/92).The operative time lasted 120-320 min.Hemoglobin dropped 1-4 g/L,11 cases in the operation procedure and 3 cases after operation needed blood transfusion respectively.One case of renal pelvic infection after operation and 1 case had split renal dysfunction with peri-parenchyma infection.The hospitalization time was 9-18 days.Conclusion It is effective and safe to perform PCNL for staghorn stone by middle calices as a main access.Combining pneumatic and ultrasonic lithotrite will be very useful with high stone clearance,short procedure time and less complications.

Objective To observe the effect of bone marrow-derived mesenchymal stem cells (bMSCs) on graft healing within a bone tunnel after anterior cruciate ligament (ACL) reconstruction in rabbits.Methods The study involved 24 New Zealand white rabbits undergone ACL reconstruction with an autologous ipsilateral gastrocnemius tendon graft.Both hindlimbs were included.In one hindlimb,graft coated with fibrin glue compound by bMSCs was employed (bMSCs group).Whereas in the contralateral hindlimb,graft coated with fibrin glue without cells was employed (control group).At postoperative 2,4,6 and 8 weeks,specimens were harvested to have a biomechanical test of tensile strength and stiffness of tendon-bone interface.Results Tensile strength and stiffness of tendon-bone interface in both experiment and control groups presented a rising trend with the prolong of repair time.In contrast,significantly higher tensile strength and stiffness of tendon-bone interface were observed in experiment group since the 6 weeks (P ＜ 0.05).Conclusion bMSCs transplantation significantly enhances the early tensile strength and stiffness at tendon-bone interface after ACL reconstruction in rabbits and improves the graft healing within a bone tunnel.

Objective To discuss the medium-term follow-up of clinically insignificant residual fragments (CIRF) after minimally invasive percutaneous nephrolithotomy lithotripsy (MPCNL).Methods The clinical data of 72 patients with CIRF medium-term follow-up were analyzed retrospectively.Results Seventy-two patients with CIRF.The anatomical distribution of CIRF was 10 at upper pole,15 at middle,35 at lower,10 at renal ureteropelvie junction and 2 at upper and lower pole.Stone analysis showed that 41 cases of calcium oxalate calculi,16 of calcium oxalate calculi mixed with carbonate calculi,3 calcium oxalate calculi mixed with uric acid,4 calcium oxalate calculi mixed with struvite stone,3 struvite stone,2 uric acid stone and 3 carbonate apatite mixed with struvite stone.Fifteen cases had clinical symptoms,including 2 renal colic pain,8 hematuria,5 lower urinary tract symptoms,4 cases CIRF located in upper pole,1 case in middle pole,4 cases in lower pole,6 cases in ureteropelvic junction,the incidence of clinical symptoms in ureteropelvic junction was significantly higher than that in other locations (6/10 vs.4/12,1/15,4/37,P ＜0.05).Eight cases required surgical procedure,5 cases underwent extracorporeal shock wave lithotripsy,3 cases with ureteral CIRF were performed with ureteroscopic lithotripsy.CIRF were clear after surgery,7 patients with ureteral CIRF had renal colic pains.The stones were excluded after spasmolytic analgesic treatments.Conclusions CIRF can be located variously in the kidney and ureter.Most CIRF are calcium oxalate calculi and locate in the lower pole.Patients with the history of previous open surgery or extracorporeal shock wave lithotripsy are more likely to get CIRF.Medium-term follow-up of CIRF reveals that CIRF located in the renal ureteropelvis junction are more likely to have clinical symptoms.

Objective To compare the outcomes of antegrade and retrograde approach ureteroscopy for impacted upper ureteric calculi and assess the safety and efficiency of the two types of minimally invasive technique. Methods A total of 106 patients with impacted upper ureteric calculi were treated with ureteroscopy. The procedure was performed via antegrade percutaneous nephrostomy tract in 50 patients (antegrade group) and via retrograde transurethral access in 56 patients (retrograde group). Results The success rate of retrograde group was 92.9% (52/56). Operating time was (45 ± 5 ) min, hospital stay was (6 ± 1) days. The stone free rate was 80.4%(45/56) at 1 month follow-up,7 patients with residual calculi required ESWL combination. Complication rate was 5.4% (3/56). The success rate of antegrade group was 100.0% (50/50). Operating time was (55 ± 8 ) min, hospital stay was (8 ± 2) days. The stone free rate was 100.0% (50/50) and no complication was noted. The stone free rate and the complication rate indicated significant difference between the two groups (P ＜ 0.05). Conclusions Antegrade and retrograde access ureteroscopy for impacted upper ureteric calculi are safe and effective. Success rate and stone free rate of antegrade approach are higher than those of retrograde approach.

Objective To investigate the therapeutics of solitary kidney complicated with complexcalculi,and improve the effect and safety of treatment.Methods Experiences in the treatment of 32 patients with solitary kidney complicated with complex calculi were summarized.Congenital solitary kidney was 6 cases (18.8%),postnatal reason was 26 cases(81.2%),left was 12 cases(37.5%),right was 20 cases (62.5%).All patients were with mould or multiple calculi,9 cases were complicated with ureter calculi,and 8 cases were hospitalized because of obstructive anuria.The patients with mould calculi received extracorporeal shock-wave lithotripsy (ESWL) prior to percutaneous nephrolithotomy(PCNL).While the patients with multiple calculi received PCNL prior to ESWL. Some cases were treated by lithedialysis.Results Twenty-nine cases (90.6%)were cured by ESWL combined with PCNL 12 cases received lithodialysis during PCNL. Eight cases with obstructive anuria recovered in 12 hours after emergent ESWL or lithodialysis,3 cases(9.4%)underwent open operation because of deformity or obstruction in renal pelvis and ureter,1 case had to keep nephrostomy because of repeated infection.Followed up 4-36 months,29 cases (90.6%)kept good kidney function,3 cases(9.4%)had renal insufficiency,2 cases(6.2%)reoccurred calculi.Conclusions The therapeutics of ESWL combined with PCNL may clear complex calculi of solitary kidney effectively and safely.It is necessary to take emergent ESWL in renal obstructive calculi cases.And the patients with lower ureter obstructive calculi may take lithodialysis first.It is proper to choose open operation on the patients with deformity of renal pelvis or obstruction of ureter.

Objective To examine the frequency and the course of cytomegalovims infection after allogeneic hematopoietic stem cell transplantation, and correlation of transplant factors with Cytomegalovirus (CMV) infection and viral load. Methods Using real-time polymerase chain reaction, we detected the copies of CMV-DNA in blood samples of the 62 patients after allo-HSCT. Furthermore, we studied the relationship between transplant factors and CMV infection. Results Among the total, 23 cases were contracted with CMV infection, 4 cases developed to CMV disease. 22 cases were cured and 1 case died. Course of CMV infection influenced the viral load significantly. Donor type, stem cell source, use of ATG, Ⅱ-Ⅳ grade aGVHD, use of glucocorticoid, complicating with other infection and use of cellular filter significantly influenced CMV infection. However, in multivariate analysis, none of them was the independent risk factors. Conclusion Real-time polymerase chain reaction may be used to early diagnose of the CMV infection and to guide treatment. Many factors influenced CMV infection. Early diagnosis and treatment could decrease the morbidity and mortality of CMV infection.

Objective To explore the expression and significance of CD34, CD117 on bone marrow mononuclear cells of myelodysplastic syndromes (MDS). Methods Direct immunofluorescence staining was used by means of flow cytometry. 37 patients with MDS were divided into RA/RARS/RCMD subgroup, RAEB Ⅰ/RAEB Ⅱ subgroup; favorable chromosomal subgroup, poor chromosomal subgroup; intermediate-risk Ⅰ subgroup, intermediate-risk Ⅱ subgroup, high-risk subgroup respectively according to WHO classification,cytogenetic abnormalities and international prognostic scoring system (IPSS). Results CD34 and CD117 were positive respectively in 11 of 19 patients with RMRARS/RCMD, all cases in RAEB Ⅰ/RAEB Ⅱ expressed CD34 and CD117; increased expression of CD34 and CD117 was MDS grade-related. Favorable chromosomal subgroup, 14 of 22 patients were positive for CD34, CD117, all cases in poor chromosomes expressed CD34 and CD117; there was a direct relationship between phenotytic density and poor cytogenetic risk factor. CD34 and CD117 expression was present respectively in intermediate-risk Ⅰ (9/17), intermediate-risk Ⅱ (11/11) and highrisk subgroup (9/9); the phenotypic intensity also was correlated with IPSS scores. Conclusion Detection of CD34, CD117 may be a useful tool for subtyping and predicting the prognosis of MDS.