Objective To investigate the manifestations of cardiac involvement in the patients with mucopolysacharidosis Ⅰ (MPS Ⅰ).Methods The clinical data of 10 MPS Ⅰ patients were collected.Electrocardiography (ECG) and echocardiography (Echo) were performed in all patients and then analyzed.Results Among the ten patients,seven were men.The onset age of MPS was (0.5 ～ 8.0) years old and the age of diagnosis was (1.8 ～ 20.0) years old.Two patients had grade 2 precordial systolic murmur.ECG was abnormal in three patients with right ventricular hypertrophy in two and right axis deviation in another one.Echo showed valvular thickening and insufficiency in nine patients,enlarged left atrium and ventricle in one patient,hapulmonary hypertension and right ventricular hypertrophy in two patients and abnormal left ventricular configuration in five patients.Conclusions Cardiac involvement is common in MPS Ⅰ patients and may present as valvular thickening with regurgitation,abnormal left ventricular configuration and pulmonary hypertension.The cardiac involvement progresses with age.ECG and Echo should be done regularly during follow-up of MPS Ⅰ patients.

Objective To explore the significance of the suppressor of cytokine signaling-1 (SOCS-1)gene methylation in the genesis, development and prognosis of diffuse large B-cell lymphoma (DLBCL).Methods The methylation state of CpG island in SOCS-1 gene were detected by methylation-specific polymerase chain reaction (PCR) and the level of SOCS-1 gene was measured by the real-time PCR. The clinical data of 30 patients with DLBCL were collected, and according to the international prognosis index (IPI), they were divided into low risk group and high risk group. Results Aberrant methylation of SOCS-1 in 17 DLBCL patients (56.7 %) were positive, however, in control group aberrant methylation was negative(P ＜0.01).The methylation level of DLBCL patients with positive SOCS-1 methylation was higher than that of patients with negative (P ＜0.05). Combined with the clinical data, the positive rate of methylation in patients with high level of serum LDH or the numbers of extra-nodal lesions＞l were significantly higher than that in patients with normal LDH level or the numbers of extra-nodal lesions ≤ 1, respectively. Hence, the positive rate of methylation in the high risk group of DLBCL was higher than that in the low risk group (P ＜0.05). Conclusion There were aberrant methylations of the SOCS-1 gene in the patients with DLBCL. The methylations of SOCS-1 can silence the gene expression, which indicates that SOCS-1 and its methylations play some role on genesis and development of DLBCL and can evaluate the prognosis of the patients with DLBCL.

Objective To detect the significance of the SHP-1,p15 and SOCS-1 genes methylation status in the genesis and development of diffuse large B-cell lymphoma (DLBCL).Methods The methylation state of SHP-1,p15 and SOCS-1 genes CpG islands were measured by methylation-specific polymerase chain (MSP) reaction.Results The positive rates of aberrant methylation for SHP-1,p15 and SOCS-1 genes in 50 specimens of DLBCL were 96 ％ (48/50),52 ％ (26/50) and 56 ％ (28/50) respectively.In control group,however,15 specimens of benign lymph node proliferation showed no methylation in CpG island of SHP-1,p15 and SOCS-1 genes promoter.Conclusion Aberrant methylations of the SHP-1,p15 and SOCS-1 genes exist in the patients with DLBCL.The methylations of SHP-1,p15 and SOCS-1 genes may be associated with the occurrence and development of DLBCL.This study provides a theoretical basis of treatment methylation for DLBCL.

Objective To evaluate the efficacy of pegaspargase (PEG-ASP) combined with GEMOX regimen for the treatment of extranodal natural killer (NK) / T-cell lymphoma (ENKL),and to observe the changes of coagulation function.Methods 35 patients with histologically confirmed ENKL were enrolled from January 2010 to December 2014.All patients received 180 cycles of PEG-ASP combined with GEMOX chemotherapy and the efficacies were observed.The coagulation items such as prothrombin time (PT),activated partial thromboplastin time (APTT),fibrinogen (Fbg) and international normalized ratio (INR) were tested respectively on day 1st,day 8th and day 14th of every treatment cycle.Results Among 35 patients,11 patients (31.43 ％) were in stage Ⅰ-Ⅱ,and 24 patients (68.57 ％) were in stage Ⅲ-Ⅳ.All patients were subjected to 180 cycles of PEG-ASP combined with GEMOX chemotherapy,and each case was estimated to receive 6 cycles.The overall response (CR+PR) rate (ORR) was 71.43 ％ (25/35),the ORR was 81.82 ％ (9/11) in stage Ⅰ-Ⅱ group,and 66.67 ％ (16/24) in stage Ⅲ-Ⅳ group.The increased PT and APTT and decreased Fbg were observed on day 8th of the chemotherapy.The increased APTT and decreased Fbg were still observed on day 14th of the chemotherapy.Compared the data of patients one day before chemotherapy with healthy persons,the changes had statistical significance (P ＜ 0.05).Conclusions PEG-ASP combined with GEMOX regimen in the treatment of ENKL is safer and more effective compared with traditional chemotherapy,but the abnormal alternations of coagulation might be common during therapy.Dealing with the bleeding risk and supplement with plasma,PPSB or Fbg in time should be necessary.

Antigens, CD34 ; metabolism ; Cytokines ; metabolism ; Diagnosis, Differential ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Mucin-1 ; metabolism ; Perineum ; pathology ; Phosphopyruvate Hydratase ; metabolism ; Sarcoma ; metabolism ; pathology ; surgery ; Vimentin ; metabolism

Background and purpose:Herpes zoster is a common adverse event associated with the use of bortezomib. The objective of this study was to evaluate the efifcacy of different therapeutic regimens of valacyclovir prophylaxis: continuously administration and intermittent administration. Methods: We retrospectively analyzed the efficacy, side effects, expense of valacyclovir and emotional states of 31 patients with multiple myeloma who received bortezomib and valacyclovir prophylaxis. Among them, 14 patients underwent continuously administration of valacyclovir, the other 17 patients underwent intermittent administration. Continuously administration was deifned as daily oral valacyclovir 600 mg without cessation during entire period of bortezomib treatment. Intermittent administration was deifned as patients received valacyclovir at a dose of 600 mg daily during chemotherapy, while discontinue valacyclovir at the intermission time of bortezomib treatment. Results: There were no herpes zoster in patients of 2 arms. Adverse events over grade 3 associated with valacyclovir were not observed. Intermittent administration of valacyclovir showed a superiority of economic beneift. The emotional status were depended on the therapeutic effects of multiple myeloma. For those relapsed or refractory patients, continuously administration of valacyclovir might aggravate depression and anxiety. Conclusion:Intermittent administration of valacyclovir at a dose of 600 mg daily appears to be an effective prophylaxis for herpes zoster in patients receiving bortezomib.

Objective To analyze the distribution of HLA-C alleles in Shandong Han population of China.Methods One hundred and fifty unrelated potential donors,self-claimed as Han population from Shandong province,were selected from China Marrow Donor Program.Genotypes of HLA-C with the donors were identified by PCR-SBT.The frequencies of allele were calculated with direct counting method and the differences with other populations were analyzed with SPSS16.0 x2 software.Results A total of 25 alleles of HLA-C were observed and the most common alleles were C * 06:02 and C * 07:02 with the frequency of more than 10.00％.Moreover,there were 16 kinds of alleles with the frequency of more than 1.00％ accounting for 95.33％ of the total alleles.The distribution of HLA-C alleles in Shandong Han population was similar to that in northern Han population,but had some differences with that in southern Han population.In addition,the distribution of HLA-C alleles in Shandong Han population significantly differed from that of German/African American.Conclusion This study on the distribution of HLA-C alleles in Shandong Han population provides valuable references for further studies on the genetics of HLA,cross-match for organ transplantation and other genetic-associated diseases in this population.

Objective To investigate the killer cell immunoglobulin-like receptor (KIR) genes, KIR2DS4 and its variant KIR1D for an association with syphilis in the comparison between syphilis patients and unrelated healthy subjects. Methods One hundred and ninety syphilis patients and 192 unrelated healthy subjects were performed to determine the KIR genotypes by PCR-SSP method. The gene frequencies of KIR2DS4 and KIR1D were analyzed for an association with syphilis in the patients and healthy people who belonged to KIR gene haplotype A. Results Of 192 healthy individuals, 187 were identified with a KIR2DS4 gene. And 91 individuals were classified as homozygous haplotype A with the percent of 48.7% (91/187) in 187 KIR2DS4 positive individuals. Of 190 syphilis patients, 181 were identified with a KIR2DS4 gene. And 89 individuals were classified as homozygous haplotype A with the percent of 49.2% (89/181) in 181 KIR2DS4 positive individuals. The frequency of KIR1D/KIR1D in syphilis patients classified as haplotype A was 16.9%, and was significantly higher than that in the control group (6.6%, P=0.032). However, there was no significant difference for the frequencies of KIR2DS4/KIR2DS4 and KIR2DS4/KIR1D between the two groups (P>0.05). Conclusion KIR1D/KIR1D might be associated with syphilis in the comparison between syphilis patients and unrelated healthy controls who were classified as homozygous haplotype A.

AIM: To investigate the effects of low-dose paclitaxel on the morphology of bladder after partial bladder outlet obstruction ( BOO) in rats.METHODS:Healthy female Sprague-Dawley rats ( n=30) were randomly di-vided into sham operation group, BOO group and low-dose paclitaxel group.The rats in BOO group and low-dose paclitaxel group received operation to establish an obstruction model, while the rats in sham group underwent sham operation.After operation, the rats in low-dose paclitaxel group received intraperitoneal injection of paclitaxel at a dose of 0.3 mg/kg twice a week for 4 weeks.At the same time, the animals in sham group and BOO group received the same volume of saline by in-traperitoneal injection.Four weeks after operation, each rat was sedated and the bladder was weighted.Histological chan-ges of the bladder were observed by HE staining.Collagen deposition in the bladder tissue was observed by Masson stai-ning, and the fibrosis area was measured.The ultrastructure of the detrusor was studied by transmission electron microsco-py.RESULTS:Compared with sham operation group, a significant increase in bladder weight (0.376 g ±0.052 g vs 0.112 g ±0.014 g, P<0.05), the muscle hypertrophy, and a decrease in the percentage of collagen area [collagen/(col-lagen+muscle), 29.66%±2.69%vs 38.94%±3.67%, P<0.05] was observed in BOO group.Under electron micro-scope, intracellular connection had more gap junction and desmosomes than intermediate junction.The cell gap widened with a large amount of collagen fiber.Compared with BOO group, low-dose paclitaxel group decreased bladder weight (0.215 g ±0.025 g vs 0.376 g ±0.052 g, P<0.05) and improved the muscle hypertrophy.The percentage of the colla-gen area was also decreased (19.94%±1.90% vs 29.66%±2.69%, P<0.05).The detrusor microstructure showed that the intermediate junction was characterized by a predominance among the intracellular connections, and the intercellu-lar space contained less collagen fibers in low-dose paclitaxel group.CONCLUSION:Low-dose paclitaxel may ameliorate the morphological damage of the bladder and recover bladder function in the rats with BOO by slowing down the process of bladder fibrosis.

Objective To explore the diagnostic value of two-dimensional speckle tracking technology in the evaluation of right ventricular systolic function in patients with pulmonary disease .Methods Thirty patients with pulmonary heart disease were divided into two groups:group of compensated pulmonary heart disease(compensated group ) (n =15),group of decompensated pulmonary heart disease (decompensated group)( n =15).30 healthy subjects were enrolled in control group .The displacement of the tricuspid annulus at the midpoint(TADmid),the displacement of the tricuspid annulus at the free wall (TADfre) and the displacement of the tricuspid annulus at the septum (TADsep) were acquired,and simultaneous real-time three-dimensional ultrasound detection of right ventricular ejection fraction (RVEF) were taken.The correlation of TADmid with RVEF and pulmonary artery systolic pressure ( PASP) were analyzed.Results TADmid of the healthy control group,the compensated group and the decompensated group were(17.1 ±3.9)mm, (13.6 ±2.6)mm,and(9.5 ±3.2)mm respectively.TADfre were(21.1 ±3.0)mm,(17.6 ±4.2)mm,and (11.5 ±3.8) mm respectively.TADsep were(12.0 ±2.5) mm,(9.7 ±3.3) mm,and(7.4 ±2.7) mm respectively.RVEF were(56.3 ±8.2)%,(39.6 ±6.4)%,and(28.1 ±5.9)% respectively.PASP were (20.6 ±2.6) mm Hg (1 mm Hg =0.133 kPa), (63.3 ±5.6) mm Hg, and (82.5 ±11.2)mm Hg respectively.There were significant differences of TADmid , RVEF, and PASP among the 3 groups ( F =8.581,7.816,9.300,6.507,10.235, all P <0.05).TADfre, TADmid, TADsep and RVEF were all decreased in the compensated group comparing to the healthy control group ,while PASP was increased.The decrease of TADmid was the most significant ,while that of TADfre was the slightest .There were significant differences of TADfre,TADmid,TADsep,RVEF and PASP between the 2 groups(t=2.703,2.536,2.379, 2.817,3.026,all P<0.05).TADfre,TADmid,TADsep and RVEF of decompensated group reduced more significantly than the compensated group , while PASP was increased significantly .There were significant differences of TADfre,TADmid,TADsep,RVEF and PASP between the 2 groups(t=2.519,2.493,2.236, 2.621,2.985,all P<0.05);TADfre and TADmid were decreased more apparently in decompensated group than that in compensated group ,and so were TADsep and RVEF,while PASP were increased.There were significant differences of TADfre,TADmid,TADsep,RVEF and PASP between the 2 groups (t =1.947, 2.680,2.016,2.653,2.893,all P<0.05).There was significant positive correlation between TADmid and RVEF measured by real-time three-dimensional ultrasound (r =0.904,P <0.01 ).There was significant negative correlation between TADmid and PASP (r=-0.686,P<0.01).The cut-off point value of TADmid measured by speckle tracking technology for evaluation of RVEF <45% and<30% were 13.65 mm and 9.80 mm,respectively.The sensitivity were 94.4%and 90.0%respectively,and the specificity were 78.6%and 90.0%respectively.Conclusions TADmid is hardly affected by the external factors ,and it can better reflect the changes of right ventricular systolic function for patients with pulmonary heart disease .TADmid is positively correlated with RVEF measured by real-time three-dimensional ultrasound and negatively correlated with PASP.Further more,the correlations is significant.The three parameters can authenticate mutually ,and the combination of them can evaluate the right ventricular systolic function in patients with pulmonary heart disease precisely.