Objective To investigate the effect of allgeneic hematopoietic stem cell transplantation (allo-HSCT) for β-thalassemia major. Methods Twenty-four β-thalassemia major patients with median age of 4 years (range: 2～15 years), 18 boys and 6 girls, received allo-HSCT.They were classified into class Ⅱ-Ⅲ according to Pesaro thalassemia classification. Twenty-three transplantations were from sibling donor and 1 was from mother, either HLA-identical (n = 23) or HLA-mismatched (5/6) (n = 1). Fifteen patients received bone marrow transplantation (BMT) plus peripheral blood stem cell transplantation (PBSCT), and 9 were subjected to umbilical cord blood transplantation (UCBT). The conditioning regimen consisted of busalphan, cyclophosphamide,fludarabine, plus hydroxyurea before transplantation. Graft-versus-host disease (GVHD) prophylaxis included CsA, methotrexate, antilymphpcute globulin, and mycophenolate mofetil. The median follow-up period was 13 months (range: 3～69). Results Of 24 patients, there were 21 cases (87. 5 %) of disease-free survival, 1 (4. 2 %) transplantation-related death, and 2 cases (8. 3 %) of rejection. Three-year overall survival and disease-free survival rate was 91.7 % and 87. 5 %respectively. The cumulative incidence of grade Ⅱ -Ⅳ acute GVHD and chronic GVHD was 16. 7 %and 20. 3 %, particularly cumulative extensive chronic GVHD was 5. 0 %. Conclusion The sibling donor BMT plus PBSCT is an effective and safe way to treat β-thalassemia major. Cord blood is an important source of hematopoietic stem cells for HSCT. The protocol GVHD prophylaxis of CsA,MTX, ATG with a low-dose and short course of MMF can effectively reduce the incidence of severe acute GVHD, improve the outcome of thalassemia transplantation.

China ; Electric Power Supplies ; Occupational Health

Objective To explore the safety of mobilization and collection as well as the feasibility of selection of autologous peripheral blood stem cells (auto-PBSC) from patients with juvenile severe autoimmune diseases (AID) for autologous hematopoietic stem cell transplantation (auto-HSCT). The clinical significance of these procedure is evaluated. Methods Eight patients with AID, including four patients with systemic lupus erythematosus(SLE),two patients with dermatomysoitis, one patient with juvenile rheumatoid arthritis (JRA), one patient with multiple sclerosis(MS),underwent auto-HSCT. Auto-PBSCs were mobilized in 8 patients using cyclophosphamide(CTX) and granulocyte colony-stimulating factor (G-CSF), and their PBSCs were collected by CS-3000 Blood Cell Separator, then the CD34+cells were selected and purified by CliniMACS CD34+cell selection device. The CD34+ cells were frozenand preserved under -80 ℃ ALL patients received non-myeloablative or lymphoablative conditioning regimens which consisted of CTX/Mel/ATG or CTX/ATG or BEAM/ATG. All patient received CD34+ cells transplantation. The safety of mobilization and collection process of auto-PBSC as well asthe feasibility of selection and purification of CD34+cells were recorded and hematopoietic reconstruction were evaluated. Results All patients tolerated the collection process well, and there was no mobilization-related mortality. The number of collected MNCs and CD34+ cells were 8.35×108/kg and 7.92×106/kg respectively. The number of CD34+ and CD3+ cells after purification was 6.28×106/kg and0.71 ×105/kg respectively. The mean granulocytes and platelet engraftment occurred on days 11 and 15 after G-CSF regimen, and they can be collected using CS-3000 instrument. PBSC mobilization and collection from patients with juvenile severe AID is safe. The CD34+ cell can be highly purified. The auto-PBSC CD34+cell transplantation is an alternative therapy for severe AIDs that do not respond to conventional treatments.

Objective To compare the efficacies between interventional embolization and surgical clipping in treatment of ruptured intracranial aneurysms to provide an evidence‐based basis for selecting the clinical treatment scheme .Methods The related randomized controlled trail(RCT) literatures on the effects of interventional embolization and surgical clipping were retrieved from the databases of Pubmed ,Cochrane ,Medline and Embase .The screening was independently performed by two researchers according to the including and excluding criterion .The occurrence rate of adverse reactions ,postoperative 1‐year mortality rate ,re‐bleeding rate ,occurrence rate of vasospasm and ischemic cerebral infarction served as the measurement indicators .The data were extracted and performed the meta analysis by the RevMan5 .3 software .Results Sixteen RCT literatures were included for conducting analy‐sis ,involving 7 373 patients ,in which 3 092 cases adopted interventional embolization and 4 281 cases adopted surgical clipping .The occurrence rate of adverse events(OR=1 .25 ,95% CI ,1 .12-1 .40 ;P<0 .000 1) and re‐bleeding rate(OR=0 .43 ,95% CI ,0 .28 -0 .66 ;P=0 .000 1) in the interventional embolization group were lower than those in the surgical clipping group ;however ,there were no statistical differences between the interventional embolization group and surgical clipping group in the postoperative 1‐year mortality rate(OR=1 .13 ,95% CI ,0 .92-1 .39 ;P=0 .23) ,incidence rate of vasospasm (OR=1 .41 ,95% CI ,0 .99-2 .02 ;P=0 .06) and incidence rate of ischemic cerebral infarction(OR=0 .66 ,95% CI ,0 .42 -1 .05 ;P=0 .08) .Conclusion The current clinical re‐search evidences indicate that using the interventional embolization in treating ruptured intracranial aneurysms can obviously reduce the occurrence rate of adverse events than the surgical clipping ,but increases the re‐bleeding rate .The postoperative 1‐year mortali‐ty rate ,incidence rate of vasospasm and incidence rate of ischemic cerebral infarction have no obvious difference between these two kinds of operation .

ObjectiveTo observe the growth of BT-325 human glioma cells after interfering volume-regulated chloride channel ClC-2 gene.MethodsTwo expression recombinant vectors of ClC-2 gene were designed and constructed. The primary plasmid, pSUPER.puro-shRNA, and the two recombinant plasmids, pSUPER.puro-shRNA-ClC-21 and pSUPER.puro-shRNA-ClC-22, were transfected into BT-325 cells by LipofectamineTM2000 (Groups: control, PP1 and PP2, respectively). The mRNA expression of ClC-2 gene was detected with reverse transcription polymerasse chain reaction (RT-PCR), the cellular survival was determined with MTT assay, and the cell cycle was measured with flow cytometry (FCM). ResultsClC-2 mRNA expression and the growth of the cells in PP1 and PP2 groups were significantly lower than that of control group. The cell cycle progression was blocked in G1 phase (PP1 and PP2 vs control,P<0.01). ConclusionThe growth of BT-325 human glioma cells is prevented by knockdown of ClC-2 gene expression, which may be one of the novel targets to inhibit growth of human malignant glioma cells.

Objective: To analyze the clinical characteristics and infection of children with Takayasu′s arteritis(TA) for improving the awareness of the disease. Methods: A retrospective study was performed on the 24 children with TA in our hospital. Results: The average onset age was 9.3±3.2 years old, the ratio of male to female was 1∶3. The most common TA type was thoracic abdominal aortic type (54.2%) in clinical classification. The initial symptoms included high blood pressure, dizziness/headache, fever and fatigue, etc.Six cases (25%) had tuberculosis infection, including 1 case of tuberculosis. There are 3 patients (8.3%) with elevated O levels, 2 patients (8.3%) with EB virus infection and 1 patient (4.2%) with small viral B19 infection. Conclusions The onset of TA in children is complicated. It is important to take examinations carefully for early diagnosis, avoiding delay treatment and bad prognosis.

Objective: To analyze the clinical characteristics of eperythrozoonosis complicated with hemophagocytic syndrome (HPS) in 4 children. Methods: Four patients diagnosed with eperythrozoonosis complicated with HPS in the Children's Hospital Affiliated Capital Institute of Pediatrics during the period from June 2014 to July 2016 were enrolled. The clinical manifestations, laboratory examination data and therapeutic strategies were analyzed. A literature search (search terms included 'eperythrozoonosis’ and 'hemophagocytic syndrome’) was conducted using CNKI, Wanfang database, Chinese biomedical literature database and PubMed to include recently published studies (searched from the database establishment to January 2017). Results: Four patients were included in the study. One was boy and the other three were girls. The age range of the 4 patients was between 9 months and 17 years (9 months, 2 years and 17 years, 11 months respectively). All the patients presented with recurrent high fever. During the course of fever, 3 patients presented with rash, and 2 patients presented with joint pain and swelling, which mimicked systemic juvenile idiopathic arthritis. Only 1 patient had the contact history of infectious disease. All patients had normal or decreased white blood cell count ((0.80-13.12)×10⁹/L), suffered from varied degrees of anemia and showed the increased C reactive protein (13.0-84.7 mg/L) anderythrocyte sedimentation rate (13-72 mm/1 h). Examination of peripheral blood smears confirmed eperythrozoonosis. After fever continued about 1 month, all the 4 patients rapidly progressed. Among the 4 patients, 1 patient died for giving up further therapy, and the other 3 patients completely recovered after treatment, including azithromycin for the treatment of eperythrozoonosis, and high-dose intravenous methylprednisolone pulse therapy and human immunoglobulin for the treatment of HPS. For the disease not satisfactory, the hemophagocytic lymphohistiocytosis-2004 (HLH-2004) protocol is given. After the hospitalization of 1 to 2 months, the conditions improved and the children were discharged from hospital. Three patients were followed up for 8 months to 2 years, and their conditions were stable. In the PubMed database, no report was found. Nine cases of children with eperythrozoonosis were found in CNKI, Wanfang database and Chinese biomedical literature database, and 1 case was complicated with HPS. These findings, taken together our report, provided the data of 5 children with eperythrozoonosis complicated with HPS (4 cases were younger than 2 years old). A patient had contact history of infectious disease. Five patientss showed fever of unknown origin. All the patients had severe eperythrozoonosis, and 2 cases at younger age died. Conclusions Children with eperythrozoonosis often present with the protracted fever of unknown origin, and clinical manifestations mimic those of juvenile idiopathic arthritis (systemic type). The patients with eperythrozoonosis of mild-to-moderate disease severity may have a good prognosis. Children with severe eperythrozoonosis, especially those HPS cases with early onset before 2 years old, may have high risk of mortality. Once the patient's condition aggravates in the course of fever, HPS should be highly suspected. For the patients with eperythrozoonosis complicated with HPS, early diagnosis and the combination of anti-infection with the treatment of HPS are crucial for a good prognosis. For the treatment of HPS, HLH-2004 protocol is recommended.

Purpose: The purpose of this study was to investigate the influences of sex comb on midleg like-2 (SCML2) on hepatocellular carcinoma (HCC) and potentially related mechanisms. Materials and Methods: SCML2 expression in tumor tissues and cells was analyzed using the TCGA database and/or qRT-PCR. The proliferation of HCC cells was detected by CCK-8, colony formation, and EdU assays. The migration and invasion of HCC cells were detected by transwell and wound healing assays. Apoptosis of HCC cells was determined by flow cytometry. Additionally, qRT-PCR and Western blot were used to detect the expression of SCML2 and Wnt/β-catenin/epithelial–mesenchymal transition (EMT) signaling. A xenograft model in mice was established to verify the in vitro findings. Results: We found that SCML2 was highly expressed in HCC tissues and cells and that high expression of SCML2 was correlated with poor prognosis in HCC patients. SCML2 overexpression promoted proliferation, invasion, and migration and repressed apoptosis of HCC cells. The reverse results were obtained in SCML2-silenced cells. Further, we found that SCML2 activated the Wnt/β-catenin/EMT pathway. SCML2 silencing reduced the protein levels of Wnt3a, β-catenin, N-cadherin, Vimentin, and Snail and enhanced E-cadherin protein expression both in vivo and in vitro. Conclusion SCML2 silencing inhibits the proliferation, migration, and invasion of HCC cells by regulating the Wnt/β-catenin/ EMT pathway.

Objective:To investigate the clinical features and prognosis of neuro-Beh?et′s syndrome (NBS) in children.Method:The clinical, brain magnetic resonance imaging and laboratory data of 5 children with NBS diagnosed in the Department of Pediatrics, General Hospital of Ningxia Medical University and Department of Rheumatology and Immunology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from April 2014 to April 2024 were analyzed retrospectively. The follow-up method was retrospective outpatient or inpatient visit to evaluate the treatment effect of NBS.Result:Among the 5 NBS cases, 2 were male and 3 were female. The age of admission ranged from 8 to 17 years, the time from onset to diagnosis was 2 days to 4 years. Two patients had dizziness, headache and convulsions during the treatment of NBS, 1 patient had disturbance of consciousness, 1 patient gradually developed aphasia, limb movement disorder, dysphagia and muscle weakness after 4 years of Behcet's syndrome, and 1 patient had no clinical symptoms. C-reactive protein and erythrocyte sedimentation rate were increased in 4 cases, and cerebrospinal fluid white blood cells and immunoglobulin G were increased in 1 case. Brain magnetic resonance imaging of 4 children showed multiple lesions, including bilateral frontal lobe, occipital lobe, parietal lobe, periventricular and corpus callosum lesions. Brain magnetic resonance imaging showed multiple demyelinating diseases in 1 case, and cervical and thoracic magnetic resonance imaging showed slender cervical and thoracic spinal cord. All patients were treated with corticosteroids combined with immunosuppressants or biological agents. The children were followed up for 6 months to 4 years, and 4 cases had good treatment results, and 1 case finally gave up treatment.Conclusions:The clinical manifestations of NBS are not specific, and brain magnetic resonance imaging shows that the lesion location and morphology are not specific. NBS children treated with corticosteroids combined with immunosuppressive agents or biological agents have a good prognosis.

Objective To summarize the clinical characteristics of Beh?et's disease (BD) in children with gastrointestinal involvement. Methods We retrospectively analyze the children BD with gastrointestinal involvement who were diagnosed in our hospital in recent 10 years. Results Twenty-two children were identified. The average age of onset was(6.1±4.0) years. The time from disease onset to clinical diagnosis was (1.2±2.1) years on average. Fifteen children had abdominal pain, diarrhea and hematochezia. Seven cases had positive endoscopic findings without any gastrointestinal symptoms. Twenty cases received corticosteroids therapy, 13 cases of them were treated with Cyclophosphamide/Methotrexate (CTX/MTX), 3 refractory cases were treated with biologics. Patients were followed up for (28±32) month on average. Eight patients' condition was stable, 7 patients were refractory, 3 patients died, 4 patients were lost to follow-up. At the same term, 5 patients without gastrointestinal involvement who received corticosteroids and CTX/MTX therapy were stable. Conclusion It is difficult to diagnose children BD at early stage. Gastrointestinal involvement may not be found, while the gastrointestinal endoscopy is of great importance in the diagnosis of the disease. Gluco-corticoid combined with immunosuppressive agents are effective. As to refractory patients, biological agent might be used although the recurrence is common. Compared with BD without gastrointestinal involvement, children BD with gastrointestinal involvement have serious condition and poor prognosis.