Objective To detect ED1 gene mutations in the families with X-linked hypohidrotic ec-todermal dysplasia (XLHED). Methods Blood samples were obtained from 2 pedigrees. All 8 exons and flanking intronic boundaries of ED1 gene were amplified with polymerase chain reaction technique and then directly sequenced. Results Two mutations were found in ED1 gene. One was splicing mutation (IVS8+5 del G), the other was missense mutation (A959G). None of the mutations was found in normal individuals of two XLHED families and in 188 unrelated, population-matched control individuals. Conclusion Out of the ED1 gene mutations identified in 2 Chinese XLHED families, IVS8+5del G is a novel mutation.

Objective To investigate the factors associated with the occurrence of pulmonary complication in patients with cervical spine fiactures and concurrent cervical cord injury in Wenchuan earthquake. Methods A retrospective analysis was conducted among the 9 patients with cervical spine fractures and cervical cord injuries treated in our department between May 12 to August 6, 2008. Results All the patients received surgical treatment for cervical spine fractures and cervical cord injuries. Six of the patients developed pulmonary complications 5 days after the injury, including 3 patients with pneumonia, 2 with ventilation disorder, and 1 with lung edema and hemopnenmothorax. Aggressive respiratory management was administered in these patients, and the pulmonary complications were effectively controlled. Conclusion Patients with cervical spine fractures and concurrent cervical cord injury often experience severe pulmonary complications during the acute phase (<5 days), which can be more likely in patients with high level injury, chest trauma, old age, preexisting pulmonary illnesses or smoking history. Early detection of the complications results in better therapeutic effect with conservative therapy.

Multiple myeloma is a malignant disease with high incidence in middle-aged and old-aged population. Bortezomib is a proteasome inhibitor which target mainly is NF-kappaB. This observation is to study the clinical treatment effect of bortezomib in one relapsed multiple myeloma (MM) patient and one primary refractory MM patient. The first patient diagnosed as IgA IIIA stage, whose state of disease became worse after 8 months of autologous peripheral blood stem cell transplantation. And the disease became further aggressive with 4 courses of chemical therapy regimen including methylprednisolone, Arsenic trioxide, dexamethasone, cyclophosphamide, mitoxantrone, VM-26. Myeloma cells in bone marrow and abnormal monoclonal immunoglobulin in blood plasma both increased. Bone destruction became severe, and there was a plasmacytoma about 5 x 6 cm on the patient's right upper chest wall. Therefore, the patient received therapy of bortezomib combined with doxrubicin, dexamethasone and thalidomide (VADT). After one course of therapy with this VADT regimen, IgA in blood plasma decreased from 54 g/L to 6.6 g/L, and abnormal plasma cells in bone marrow decreased from 40% to 0.6%, and plasmacytoma on the patient's right upper chest wall almost absorbed. But there was no obvious clinical effect after the second course of therapy of VADT, and the disease status became progressive again. The second patient was MM patient with a light chain kappa type, III B stage. There was no any effect after two courses of VAD therapy and one course of MOFP therapy. The patient acquired near complete remission after one course of treatment with VADT. Quantity of kappa protein in urine reduced from 24 - 30 g/24 hours to 1.12 g/24 hours. Blood creatinine reduced from 475.3 micromol/L to 124.2 micromol/L. Beta2-MG reduced from 161g/L to 64 g/L. And this patient got complete remission after three consecutive VADT therapy. The mainly side effects of the bortezomib regimen in the first patient include markedly lassitude, diarrhea, numbness of the end of extremities, marked increase of LDH. All the side effects could be tolerated and became disappeared after contraposing treatment and stopping the bortezomib regimen therapy. The second patient complicated with severe subacute left hemiplegia after the bortezomib dose had been increased to 1.45 mg/m2 at the third time of the first VADT course and the complication became worst at the following day. The upper limb muscle strength was only 1 grade and the lower limb muscle strength was 2 grade. Then the condition improved with the support therapy and gradually recovered after two weeks. Therefore, bortezomib is an effective target drug for therapy in refractory multiple myeloma, and more attentions to the side effects should be paid in order to deal with those side effects in time.
Adult ; Antineoplastic Agents ; therapeutic use ; Boronic Acids ; therapeutic use ; Bortezomib ; Humans ; Male ; Middle Aged ; Multiple Myeloma ; drug therapy ; Neoplasm Recurrence, Local ; drug therapy ; Protease Inhibitors ; therapeutic use ; Pyrazines ; therapeutic use ; Salvage Therapy

INTRODUCTIONThe role of soluble OX40 ligand (sOX40L) in adult bronchial asthma is unclear. This study aims to determine the serum concentrations of sOX40L in adult patients with bronchial asthma, and discussed its relationship with pulmonary function.

MATERIALS AND METHODSWe measured the pulmonary function using the spirometer and detected the serum concentrations of sOX40L by enzyme linked immunosorbent assay (ELISA) in 19 healthy persons in the control group, 58 acute asthmatic adult patients who were grouped according to their disease severity: 18 mild grade, 24 moderate grade, 16 severe grade, and 24 persons in a stable asthmatic group.

RESULTSThe serum concentrations of sOX40L in asthmatic adult patients (6.80 ± 4.95 ng/L) were distinctly higher than those in the control group (3.98 ± 2.83 ng/L, P <0.05), and they were negatively correlated with pulmonary function indexes (FEV1%, FVC%, FEV1/FVC) (r = -0.754, P <0.01, r = -0.557, P <0.01, r = -0.457, P <0.01, respectively). Moreover, the serum concentrations of sOX40L showed obvious differences among control, mild, moderate, and severe groups (3.98 ± 2.83, 4.87 ± 1.89, 6.97 ± 5.91, 8.71 ± 5.18 ng/L, respectively; P <0.01). The concentrations of sOX40L decreased to the same extent as the control group after therapeutic treatments were provided to the asthmatic adult patients.

CONCLUSIONThe concentrations of sOX40L were found to be high in adult asthmatic patients and were associated with the severity of the disease. Therefore, sOX40L could be a potential inflammatory mediator in the pathogenesis of asthma.

Adult ; Analysis of Variance ; Asthma ; blood ; etiology ; physiopathology ; Case-Control Studies ; Enzyme-Linked Immunosorbent Assay ; Female ; Forced Expiratory Volume ; Humans ; Inflammation Mediators ; blood ; Lung ; physiopathology ; Male ; Middle Aged ; OX40 Ligand ; blood ; Severity of Illness Index ; Spirometry

The present study aimed to examine the effect of interleukin (IL)-4 on neutrophil chemotaxis in airway inflammation in asthmatic rats and the possible mechanism. Male Wistar rats were intranasally instilled with recombinant rat (rr) IL-4 (rrIL-4) at different doses [2, 4 or 8 μg/animal, dissolved in 200 μL normal saline (NS)] or rrIL-4 at 4 μg/animal (dissolved in 200 μL NS). NS (200 μL) and LPS (6 mg/kg/animal, dissolved in 200 μL NS) were intranasally given respectively in the negative and positive control groups. Moreover, the asthmatic lung inflammation was induced in rats which were then intranasally treated with rrIL-4 (4 μg/animal) or LPS (6 mg/kg/animal). The normal rats treated with different doses of rrIL-4 and those asthmatic rats were sacrificed 6 h later. And animals instilled with rrIL-4 at 4 μg were sacrificed 6, 12 or 24 h later. The bronchoalveolar lavage fluid (BALF) and lungs were harvested for detection of leukocyte counts by Wright-Giemsa staining and lung histopathology by haematoxylin-eosin (HE) staining. The levels of cytokine-induced neutrophil chemoattractant (CINC)-1 and intercellular adhesion molecule (ICAM)-1 in BALF were determined by ELISA. Real-time PCR was used to measure the mRNA expression of CINCs (CINC-1, CINC-2α, CINC-2β, CINC-3) and ICAM-1 in lung tissues. The results showed that the intranasal instillation of IL-4 did not induce a recruitment of neutrophils in BALF in rats. However, IL-4 could increase the CINC-1 level in BALF in a dose-dependent manner at 6 h. But the mRNA expression levels of CINC-1, CINC-2α, CINC-2β, CINC-3 were not significantly increased in lungs of IL-4-treated rats relative to NS negative control group. Moreover, IL-4 was found to augment the mRNA expression of ICAM-1 in lungs and the ICAM-1 level in BALF at 6 h. However, the increase in CINC-1 and ICAM-1 levels in BALF of IL-4-treated asthmatic rats was not significantly different from that in untreated asthmatic rats. These findings indicate that IL-4 does not directly recruit neutrophils in the rat lungs, but it may contribute to airway neutrophilia through up-regulation of CINC-1 and ICAM-1.
Animals ; Asthma ; immunology ; Chemotactic Factors ; immunology ; Intercellular Adhesion Molecule-1 ; immunology ; Interleukin-4 ; immunology ; Lung ; immunology ; Male ; Neutrophils ; immunology ; Rats ; Rats, Wistar

To explore the dynamic change of CD34(+) cell expressing adhesion molecules in bone marrow and peripheral blood during mobilization with combination of chemotherapy and G-CSF and its clinical significance, mononuclear cells of bone marrow and peripheral blood from malignant hematopathy cases before and after mobilization with G-CSF were labeled by CD45-CY-Chrome, PE conjugated anti-CD34, and FITC conjugated anti-CD44, anti-CD49d, anti-CD62L and anti-CXCR4. For three-color fluorescence analysis by flow cytometry was performed on a FACScalibur. Also the relationship between the number of subpopulations in different expressions of adhesion molecules infused and the time of recovery in different blood cells after transplantation was evaluated. Results showed that a significantly lower expression of CD44(+) and CD49d(+) on CD34(+) cells in bone marrow after mobilization compared to that before mobilization, whereas great higher expression of CD44(+), CD49d(+), anti-CD62L(+) and lower of anti-CXCR4(+) in peripheral blood were observed after mobilization. No significant relations were found between expression of different adhesion molecules on CD34(+) cells infused and the time of reconstitution in blood cells after transplantation. It was concluded that this mobilizing regimen could downregulate the expressions of CD44, CD49d, CD62L, and anti-CXCR4 on CD34(+) cells in bone marrow, it may related to mobilization of CD34(+) cells from marrow to blood, and homing of blood CD34(+) cells into marrow.
Adolescent ; Adult ; Antigens, CD34 ; immunology ; Bone Marrow Cells ; immunology ; metabolism ; Cell Adhesion Molecules ; biosynthesis ; blood ; Female ; Flow Cytometry ; methods ; Granulocyte Colony-Stimulating Factor ; therapeutic use ; Hematologic Neoplasms ; immunology ; metabolism ; therapy ; Hematopoietic Stem Cell Mobilization ; Hematopoietic Stem Cell Transplantation ; Hodgkin Disease ; immunology ; metabolism ; therapy ; Humans ; Hyaluronan Receptors ; biosynthesis ; Integrin alpha4 ; biosynthesis ; L-Selectin ; biosynthesis ; Leukocytes, Mononuclear ; immunology ; metabolism ; Lymphoma, Non-Hodgkin ; immunology ; metabolism ; therapy ; Male ; Middle Aged ; Multiple Myeloma ; immunology ; metabolism ; therapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; immunology ; metabolism ; therapy

OBJECTIVETo observe the effect of S100A4 gene silencing mediated by small interfering RNA (siRNA) on the proliferation of bladder cancer stem cells (CSCs) and their capacity of xenograft tumor formation.

METHODSMB49 bladder cancer stem cells (MCSCs) were isolated and identified. The differentially expressed protein S100A4 was identified in MCSCs using isobaric tags for relative and absolute quantitation technology (iTRAQ). A siRNA targeting S100A4 was constructed and transfected into MCSCs, and its inhibitory effects on S100A4 expression in MCSCs were assessed with Western blotting and qPCR. The effects of siRNA-mediated S100A4 silencing on the proliferation and xenograft tumor formation ability of MCSCs were observed.

RESULTSAmong the 65 differentially expressed proteins identified by iTRAQ combined with LC/MS/MS, S100A4 protein showed the most distinct differential expression in MCSCs. Transfection of MCSCs with S100A siRNA significantly inhibited the expressions of S100A4 at both mRNA and protein levels, caused obvious suppression of the cell proliferation, and attenuated the xenograft tumor formation ability of the cells in nude mice.

CONCLUSIONS100A4 in MCSCs is associated with the recurrence and metastasis of bladder cancer. S100A4 may serve as a potential therapeutic target for eliminating bladder CSCs.

Objective To evaluate and study percutaneous nephrolithotomy (PCNL) related factors in the treatment of renal calculi caused postoperative fever and its prevention measures. Methods Making a retrospective analysis of the clinical records of 150 patients who underwent PCNL, including age, gender, diabetes history and previous ipsilateral renal surgery, stone type, stone size, whether the complication of upper ureteral stones, preoperative urinary tract infection, hydronephrosis and pyonephrosis, preoperative renal fistula, postoperative centering vein pressure, intraoperative perfusion and the operation time from January 2015 to June 2017. After the operation, the patients were divided into two groups: fever group and non-fever group, and analyzed the related factors of the fever. Results Among the 150 cases, fever occurred in 27 cases after PCNL, taking up 18%. Gender, history of diabetes, staghorn calculi or staghorn stone, stone size, with ureteral calculi, preoperative urine leukocyte count, renal abscess, preoperative renal fistula, postoperative central venous pressure, intraoperative perfusion and operation time between the two groups, the differences that were statistically significant (P < 0.05). Logistic that multivariate analysis showed that female patients with upper ureteral calculi, perfusion, intraoperative volume,preoperative pyonephrosis, long operation time are independent risk factors of fever after operation (OR^>1, P<0.05). Conclusion Routine bacterial culture of urine should be performed before percutaneous nephrolithotomy, urinary tract infection and kidney empyema should be treated thoroughly. The reasonable shorter operative duration and perfusion fluid volume could significantly reduce the incidence of fever after PCNL.

OBJECTIVETo evaluate the anginal attack-relieving efficacy and safety of Kuanxiong Aerosol (KA) in patients with coronary heart disease (CHD).

METHODSA total of 780 patients confirmatively diagnosed as CHD angina from November 2011 to December 2012 in 13 medical centers in the mainland area were assigned to 2 groups by blocked randomization, the treatment group (376 cases) and the control group (374 cases). When the angina attacked, patients in the treatment group received sublingual spray three times, 0.6 mL each time, while those in the control group sublingually dissolved Nitroglycerin Tablet (NT), 0.5 mg each tablet. The effective rate of angina relief, efficacy of electrocardiogram (ECG), and the incidence of adverse reactions were observed.

RESULTSThe 3 min and 5 min remission rates of angina attack were 53.72% (202/376) and 94.41% (355/376) in the treatment group, and 47.86% (179/374) and 90.64% (339/374) in the control group. The 95% confidence interval (CI) of the difference between the 2 groups of 3 min and 5 min remission rates of angina attacks were [(-1.84%, 12.32%) and (-1.33%, 6.85%) respectively, P > 0.05]. The total improvement rates of ST-T changes in the treatment group and the control group after treatment were 74.07% and 73.13% respectively (P > 0.05). The adverse reaction rate was 9.31 (35/376 cases) in the treatment group and 22.46% (84/374 cases) in the control group (P < 0.01).

CONCLUSIONKA was not inferior to NT in relieving anginal attacks and improving ischemic ECG changes, and had obviously less adverse reaction.

Aged ; Angina Pectoris ; drug therapy ; Coronary Disease ; drug therapy ; Drug Combinations ; Drugs, Chinese Herbal ; therapeutic use ; Female ; Humans ; Male ; Middle Aged ; Oils, Volatile ; therapeutic use ; Phytotherapy

This study was aimed to explore feasibility and efficacy of unrelated donor peripheral blood stem cell transplantation (UD-PBSCT) in treatment of hematologic malignancies. Ten patients with hematologic malignancies underwent high resolution DNA based typing HLA-matched or 1 locus mismatched UD-PBSCT. Busulfan, cyclophosphamide, Ara-C, MeCCNU and antithymocyte globulin (ATG) were used for preconditioning regimen in all cases. All patients received mycophenolate mofetile, cyclosporin A and short-term methotrexate with CD25 antibody as the graft-versus-host disease (GVHD) prophylaxis. The results showed that rapid engraftment was observed in all cases who presented full donor chimerism at 28 days post transplantation by STR-PCR. The median time of neutrophil recovery > 0.5 x 10(9)/L, platelet recovery > 20 x 10(9)/L was 13, 17.5 days respectively after transplantation. The incidence of acute GVHD was 3 cases (one case with grade I was recovered from GVHD by himself, one case with grade III was cured, one case with grade VI was died). It is concluded that above-mentioned preconditioning regimen and GVHD prophylaxis are effective approaches for unrelated donor peripheral blood stem cell transplantation in hematopoietic malignancies.
Adolescent ; Adult ; Blood Donors ; Female ; Graft vs Host Disease ; prevention & control ; Humans ; Male ; Peripheral Blood Stem Cell Transplantation ; methods ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; therapy