Objective To explore the clinical characteristics of adrenoleukodystrophy (ALD). Methods The clinical date of 14 ALD patients were analyzed retrospectively. Results The 14 ALD patients were boys,the symptoms occurred slowly from 1 to 13 years old. The clinical manifestations of all the ALD patients were mainly mental retardation and disturbances of movement of extremities,9 cases had visual disorders,6 cases had auditory disorders and 13 cases had dysarthria,5 cases had seizure and 6 cases had increased skin pigmentation. The level of plasma very long chain fatty acids (VLCFA) in 5 csaes were increased at some degree.The brain CT from 2 cases and MRI from 12 cases showed butterfly-like focus in periventricle areas in the white matter bilaterally. Lace-like high intensity lesions were observed in 3 cases. Conclusion The clinical features of ALD are progressive dysnoesia,limbs dyskinesia,hypropsia,hearing loss etc,dysfunction of adrenal cortex,the level of plasma VLCFA increased,and with characteristic changes of skull imageological.

Objective To investigate the predictive value of combined analysis on single nucleotide polymorphisms (SNPs) of X-ray cross-complementing1 ( XRCC1 ) gene 194 and 399 codon,xeroderma pigmentosum group D (XPD) gene 312 codon and glutathione S-transferase P1 (GSTP1) gene 105 codon in platinum based chemotherapy.Methods Direct sequencing was performed to detect XRCC1,XPD and GSTP1 genotypes in peripheral blood from 50 cancer patients receiving platinum-based chemotherapy.Genetic polymorphisms of these genes related to sensitivity of platinum were reviewed.Results Favorable genotypes were Arg/Trp and Trp/Trp in XRCC1 194 codon,Arg/Arg in XRCC1 399 codon,Asn/Asn in XPD 312 codon and Val/Val in GSTP1 105 codon.The response rate to chemotherapy was 57.1％,75.0％,60.9％,85.7％ and 87.5％,respectively.The response rate for patients possessing ≥2 favorable genotypes and those possessing 1 or 0 favorable genotype was 78.9％,36.4％ and 0,respectively.Patients possessing ≥2 favorable genotypes demonstrated higher sensitivity to platinum based chemotherapy,compared with those possessing 1 or 0 favorable genotype ( x2 =25.79,P ＜ 0.01 ).Conclusions Combination analysis of genomic polymorphisms of XRCC1,XPD and GSTP1 may be useful in predicting sensitivity of platinum based chemotherapy.

AIM: To study the effect of bone marrow stem cell transplantation on mdx mice at different ages. METHODS: The bone marrow stem cells of C57BL/6 mice (4 - to-weeks age) were cultured in vitro for 3 days, then injected intravenously into the 6 -week and 8-week aged mdx, which were preconditioned with 7 Gy ? ray. 12 weeks after being transplanted, the mdx mice were studied for the dystrophin protein expression on the skeletal muscle membrane. RESULTS: Three months after transplanted with bone marrow stem cells, about 16% and 7% muscles cells in 6-week and 8-week mdx mice expressed dystrophin protein, respectively. CONCLUSION: 12 weeks after transplantation with bone marrow stem cells of homologous series mice, different amounts of dystrophin protein expressed on the membrane of skeletal muscle cells were observed in different aged mdx mice. Bone marrow stem cell transplantation show more benefic effect for younger mdx mice.

AIM: To investigate the correlation between the expression of neuron-specific protein and apoptosis in the process of differentiation from rat bone marrow stromal cells into neuron with brain-derived neurotrophic factor (BDNF). METHODS: The 5th passage MSCs were induced by BDNF and 2-mercaptoethanol (?-ME), respectively. At 1 h, 6 h, 12 h and 24 h, nestin, neuron specific enolase (NSE), microtubulease associated protein (MAP)-2 and glail fibrillary acidic protein (GFAP) were detected by Western blotting. Cell cycle and apoptosis were examined by flow cytometry. RESULTS: Nestin and NSE of neuron-like cells induced by BDNF and ?-ME were all positive by Western blotting. At 12 h, nestin and NSE turned to negative and apoptosis was detected in ?-ME group, nestin and NSE still positive and apoptosis wasn't detected in BDNF group. Till 24 h, nestin and NSE in BDNF group were negative but apoptosis still not detected. Notably, GFAP (glial astrocyte marker) was detected and MAP-2 wasn't detected in the two induced groups. CONCLUSION: The down-expression of neuron-specific protein correspondingly with apoptosis in the process of differentiation from MSCs into neuron with ?-ME shows that apoptosis may be one of the causes of induced cell death. BDNF induction was not the cause of apoptosis. Other factors may include for the cell death in the presence of neuron-specific protein expression induced by BDNF.

Objeetive To construct the cell DNA damage models for the human CML K562 cell line before or after imarlnib mesylate treatment and observe the repairing process dynamically for investigating the iniluence of imatinib mesylate on the repair function of K562 cells after cell DNA danlage.Methods The MTT assay was used to estimate the optimal pretreatment concentration of imatinib mesylate in K562 cells and Western blot was employed to evaluate the phosphorylation status in K562 cells after imatinib mesylate treatment to estimate BCR/ABL tyrosine kinase inhibition by imatinib mesylate.The comet assay was used to detect the DNA damage induced by hydrogen peroxide at various concentrations in K562 cells with or without the pretreatment of imatinib mesylate.A dynamic observation on the repairing process after cell DNA damage was made by the comet assay.Results The pretreatment by imatinib mesylate for K562 cells was optimized to be at a final concentration of 1 μmol/L for 24 h as revealed by the MTT assay additionly imatinib mesylate treatment at this concentration could effectively inhibit the phosphorylation of the BCR-ABL fusion protein at Tyr177(Deusityrate 0.100±0.018).When compared with the control group(Deusityrate 0.425±0.039),the BCR/ABL phosphorylation at Tyr177 was significantly decreased by (77. 11±5.59) % (t=4. 57,P＜0. 05). The cell DNA damage models for both imatinib mesylate-nontreated and imatinib mesylate-pretreated K562 cell groups were constructed with hydrogen peroxide treatment at a final concentration of 10 μmol/L for 10 min at 4℃ as confirmed by the comet assay. When compared with the control imatinib mesylatenontreatod K562 cell group,the time duration required for the DNA repair in imatinib mesylate-pretreated K562 cell group was significantly prolonged (F= 97.79,P＜0. 05 ). Conclusions The cell DNA damage models for the leukemic K562 cell groups before or after imatinib mesylate treatment were successfully constructed and the tyrosine kinase inhibitor imatinib mesylate for BCR/ABL fusion protein was revealed to attenuate the DNA repair capacity of the K562 cells after DNA damage.

Objective To construct the transformed mouse BaF3-P210 cell line stably expressing BCR/ABL and to initially investigate the influence of BCR/ABL on the cell biological characteristics of BaF3 cell line. Methods The retroviral vector with bcr/abl gene was transfected into the packaging cell line. The BaF3 cells were infected with the collected viral supernatant. The transgenic BaF3-P210 cell line stably expressing BCR/ABL were screened and subcloned. The integration of the bcr/abl gene in the genome of the target cell was determined by PCR and DNA sequencing,trypan blue staining assay,flow cytometry and MTT assay. Results The bcr/abl gene was integrated into the BaF3 cell genome; RT-PCR and Western blot verified the stable expression of the bcr/abl gene and protein in the screened subclone cell line BaF3-P210. Compared with the control group,the cell proliferation rate was promoted (P

Objective To investigate the precipitating factors,clinical manifestations,magnetic resonance imaging (MRI) features and prognoses of children with posterior reversible encephalopathy syndrome (PRES) during the treatment of hematological diseases,and to improve the understanding of the diseases.Methods A total of 9 children with PRES,admitted to our hospital from January 2012 to December 2016,were chosen.The clinical data,including precipitating factors,clinical manifestations,MRI features and prognoses,were retrospectively analyzed.Results (1) Precipitating factors:6 patients with acute lymphoblastic leukemia occurred PRES during remission induction therapy (6/9,66.7％) and 3 occurred PRES during oral cyclosporine A after hematopoietic stem cell transplantation or autoimmune diseases (3/9,33.3％).(2) Clinical manifestations:all of them were acute onset,and the main symptoms were seizures (8/9,88.9％) and hypertension (7/9,77.8％);some patients suffered from headache,vomiting,visual disturbances,disturbance of consciousness and poor mental symptoms.(3) Features of head MR imaging:the lesions were mainly located in the parietal-occipital lobe,showing patchy long T1 and long T2 signals,and bilateral imperfect symmetry;FLAIR imaging showed high signal distinctly,and other parts of brain could also been involved in.(4) Prognoses:7 children (77.8％) recovered well,one (11.1％) left frequent seizures during 2 years of follow up,one (11.1％) left mental retardation.Conclusion Methotrexate,cyclosporine A and other agents are important incentives in children with PRES during the treatment of hematological diseases;seizures and hypertension are the main clinical manifestations;MR imaging is important in diagnosing the disease;and PRES is not completely reversible.

Objective: To investigate the effect of hypertensive disorder complicating pregnancy (HDCP) on the mortality and early complications of premature infants. Methods: The general clinical data of preterm infants with gestational age 24-36^{+ 6} weeks were collected from the cooperative units in the task group from January 1, 2013 to December 31, 2014.According to the severity of HDCP, the infants were divided into 4 groups: HDCP group, preeclampsia group, eclampsia group and non HDCP group, the mortality and major complications of preterm infants were compared, and the influencing factors were analyzed. Results: The mortality rate of preterm in the HDCP group was significantly higher than that of non HDCP group, and there was statistical significance (χ²=9.970, P=0.019). Eclampsia had a highest fatality rate (4.8%) in the early stage, compared with non HDCP group (2.2%), and the difference was statistically significant.Comparison of HDCP group (1.8%) and eclampsia group (3.2%) suggested that there was no statistically significant difference.The incidence of respiratory distress syndrome (RDS) in preterm in HDCP group was significantly higher than that of non HDCP group, and there was statistical significance (χ²=13.241, P=0.004). Eclampsia group showed the highest incidence (35.4%), compared with non HDCP group (16.2%), the difference was statistically significant, but compared with HDCP group (19.9%), preeclampsia group (17.1%), there was no significant diffe-rence.The incidence of bronchopulmonary dysplasia (BPD) in preterm in HDCP group was significantly higher than that of non HDCP group (χ²=9.592, P=0.022), the highest incidence showed up in eclampsia group (9.7%), compared with non HDCP group (2.0%) and HDCP group (1.7%), the difference was statistically significant.But there was no statistically significant difference, compared with preeclampsia group.As the degree of HDCP aggravated, the incidence of BPD gradually rose.There was no significant impact on necrotizing enterocolitis (NEC), retinopathy of prematurity (ROP), intraventricular hemorrhage (IVH) and sepsis of HDCP (χ²=7.054, 7.214, 0.358, 3.852; P=0.070, 0.065, 0.949, 0.278). Considering the overall outcome of the child, that was, whether the child died or survived, he had at least one complication, and HDCP had an effect on it (χ²=15.697, P=0.001), so the incidence increased while the degree of HDCP rose gradually.After adjusting gestational age, birth weight, sex, way of delivery, placental abruption and front placenta, prenatal hormonal, gestational diabetes, neonatal asphyxia and other factors, the results displayed that HDCP was the factor leading to the death of premature baby (OR=2.159, 95%CI: 1.093-4.266), and comparison between preeclampsia and eclampsia showed no statistical difference (P=0.714, 0.389); HDCP had no significant influence on RDS, BDP, ICH, NEC, ROP and sepsis. Conclusions HDCP leads to increased risk of premature death, but also leads to the increased incidence of RDS and BPD, but it had no obvious effect on NEC, ROP, IVH, sepsis and other complications.