Objective: To investigate the clinical significance of minimal residual disease (MRD) monitoring by using WT1 gene and flow cytometry (FCM) in patients with myelodysplastic syndrome (MDS) who receiving allogeneic stem cell transplantation (allo-HSCT). Methods: WT1 gene and MDS-related abnormal immunophenotype were examined by real-time quantitative polymerase chain reaction (RQ-PCR) and FCM, respectively. The bone marrow samples were collected from patients with MDS who received allo-HSCT from Feb, 2011 to Oct, 2015 in Peking University People's Hospital before and after transplantation. Results: Among 92 MDS patients, 40 (48.2%) patients were positive for WT1 (WT1(+)) and 9 (10.8%) patients were positive for flow cytometry (FCM(+)). 27 patients (29.3%) met the criteria of our combinative standard, MRDco (MRDco(+)). Only FCM(+) post-transplant (P<0.001) and MRDco(+) (P=0.017) were associated with relapse. The cumulative incidence of relapse (CIR) at 2 years were 66.7% and 1.2% (P<0.001) in FCM(+) and FCM(-) groups. MRDco(+) group had a 2-year CIR of 23.0% while MRDco(-) group had a 2-year CIR of 1.6% (P=0.004). The specificity of post-transplant WT1, FCM and MRDco to predict relapse was 59.0%, 96.4% and 74.7%, respectively. The sensitivity of these three MRD parameters to predict relapse was 66.7%. Conclusion: Post-transplant FCM and MRDco are useful tools to monitor MRD for MDS after transplantation. The preemptive intervention based on MRDco is able to reduce the relapse rate.
Flow Cytometry ; Hematopoietic Stem Cell Transplantation ; Humans ; Myelodysplastic Syndromes/therapy* ; Neoplasm Recurrence, Local ; Neoplasm, Residual ; Stem Cell Transplantation ; Transplantation, Homologous ; WT1 Proteins

AIM:To understand the clinic effect of intravitreal anti-vascular endothelial growth factor(VEGF) drugs injection in the treatment of fundus disease in the real-world study (RWS).METHODS:The clinical cases treated with anti-VEGF drugs in our department from September 2012 to June 2015 were enrolled in this study.Retrospective investigation was reviewed to the kinds of diseases, frequency, usage, efficacy, adverse reaction, and the effects on visual acuity, fundus and macular thickness which were treated with intravitreal anti-VEGF drugs injection.RESULTS:In 305 patients (340 eyes) treated with anti-VEGF drugs, 53 patients (60 eyes, 17.6%) were wet age-related macular degeneration (AMD), polypoidal choroidal vasculopathy (PCV) 16 cases (18 eyes, 5.3%), diabetic macular edema (DME) 120 cases (134 eyes, 39.4%), branch retinal vein occlusion (BRVO) secondary macular edema 61 cases (68 eyes, 20.0%), central retinal vein occlusion (CRVO) secondary macular edema 29 cases (32 eyes, 9.4%), idiopathic choroidal neovascularization (ICNV) 16 cases (18 eyes, 5.3%), high myopia with choroid neovascularization 4 cases (4 eyes, 1.2%), neovascular glaucoma 4 cases (4 eyes, 1.2%), retinal angiomatous proliferation (RAP) 1 cases (1 eyes, 0.2%) and optic papillary neovascularization 1 cases (1 eyes, 0.2%).The minimum age was 16 years old, and the maximum age 90 years old.There were 247 cases (275 eyes, 80.9%) were treated with intravitreal ranibizumab injection, 58 cases (65 eyes, 19.1%) intravitreal conbercept injection.The time number of all patients accepted anti-VEGF drugs treatment was 465, with an average of 1.7 times per eye.Which, the 3 + PRN treatment method in 98 patients (109 eyes, 32.1%), 1 + PRN treatment in 207 patients (231 eyes, 67.9%).69 cases (77 eyes, 22.6%) were used alone to receive anti-VEGF drugs therapy, 10 cases (11 eyes, 3.2%) combined with intravitreal triamcinolone injection(TA), 35 cases (39 eyes, 11.5%) combined with vitrectomy, 26 cases (29 eyes, 8.5%) combined with photodynamic treatment (PDT), 165 cases (184 eyes, 54.1%) combined with simple laser treatment.After anti-VEGF drug treatment, majority of patients' the best corrected visual acuity (BCVA), fundus and central macular thickness(CMT) were significantly improved, compared with the pre-treatment, the difference is significant (P<0.05).So that anti-VEGF drugs can effectively improve visual function and ocular fundus for fundus diseses.There were no serious adverse reactions except 3 patients appearling skin redness, itching, rash, 1 patient low low-grade fever and 1 patient acute cerebral infarction during the treatment.CONCLUSION:Intravitreal anti-VEGF drugs injection can significantly improve the visual function and ocular fundus for patients with fundus diseases, but there are still some adverse events, which should be attached great importance to medical workers.

A 9-day-old male patient was admitted to the hospital because of cough, anhelation, feeding difficulty and lethargy. The diagnostic examinations indicated pulmonary infection, severe metabolic acidosis, hyperglycemia, hyperammonemia and pancytopenia in the patient. Blood and urine screening and isovaleryl-CoA dehydrogenase (IVD) gene detection for inherited metabolic diseases were performed to clarify the etiology. Tandem mass spectrometric screening for blood showed an elevated isovalerylcarnitine (C5) level. The organic acid analysis of urine by gas chromatography-mass spectrometry showed significantly increased levels in isovaleryl glycine and 3-hydroxyisovaleric acid. Homozygous mutations (c.1208A>G, p.Tyr403Cys) in the IVD gene were identified in the patient. His parents were heterozygous carriers. After the treatment with low-leucine diets and L-carnitine for 3 days, the patient showed a significant improvement in symptoms, but he died one week later. It is concluded that the neonates with pneumonia and metabolic decompensation of unknown etiology should be screened for genetic metabolic disease.
Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; Humans ; Infant, Newborn ; Isovaleryl-CoA Dehydrogenase ; deficiency ; genetics ; Male ; Mutation ; Pancytopenia ; etiology

Objective To assess the efficacy and side effects of 125 I seed implantation for locoregional recurrent and metastatic breast cancer, and to discuss its role in the comprehensive therapy of breast cancer. Methods Forty?three patients with locoregional recurrent or metastatic breast cancer were included in this study. They received 125 I seed implantation and were followed up to evaluate the efficacy and adverse reactions of the treatment. Results Among 54 lesions in the 43 cases, there were complete response (CR) in 39, partial response (PR) in 13, stable disease (SD) in 2 patients, with a response rate of 96.3%. All 17 cases with local pain achieved pain relief. With a median follow up of 36 months ( range 14 to 60 months) ,the 1?, 3?, and 5?year local control rate was 85.2%, 53.7% and 1.9%, and the 1?, 3?, and 5?year survival rate was 95. 3%, 67. 4% and 37. 2%, respectively. No serious radiotherapy side effect was observed. Conclusion In patients with unresectable locoregional recurrent or metastatic breast cancer, 125 I seed implantation shows proved efficacy and few complications, and can be an important treatment option.

Objective To assess the efficacy and side effects of 125 I seed implantation for locoregional recurrent and metastatic breast cancer, and to discuss its role in the comprehensive therapy of breast cancer. Methods Forty?three patients with locoregional recurrent or metastatic breast cancer were included in this study. They received 125 I seed implantation and were followed up to evaluate the efficacy and adverse reactions of the treatment. Results Among 54 lesions in the 43 cases, there were complete response (CR) in 39, partial response (PR) in 13, stable disease (SD) in 2 patients, with a response rate of 96.3%. All 17 cases with local pain achieved pain relief. With a median follow up of 36 months ( range 14 to 60 months) ,the 1?, 3?, and 5?year local control rate was 85.2%, 53.7% and 1.9%, and the 1?, 3?, and 5?year survival rate was 95. 3%, 67. 4% and 37. 2%, respectively. No serious radiotherapy side effect was observed. Conclusion In patients with unresectable locoregional recurrent or metastatic breast cancer, 125 I seed implantation shows proved efficacy and few complications, and can be an important treatment option.