Fanconi anemia (FA) is an rare autosomal recessive inherited disease which manifests progressive marrow failure, congenital bone malformation, high risk to cancers and so on. Chromatin of FA cells display auto-instability and high hypersensitivity to interstrand DNA cross-links such as mitomycin C. As normally FA develop into acute myeloid leukemia easily, it has been regarded as pre-leukemia state. Till now 11 FA genes have been found and play a role in sustaining stability of gene groups through the same mechanism. As an active connecting protein, FANCF protein play an important part in correct FA complex formation. Which makes FANCD2 single ubiquitin. Ubiquitin FANCD2 induces chromatin and BRCA1 interact, and repair injured DNA. FA gene defect makes gene group instable and increases the risk of chromatin collapse, which finally leads to acute myeloid leukemia and myelodysplastic syndrome.

0.05).At the eighth week of training and after ceasing the cognitive training for 4 weeks the NCSE scores and the FIM scores were improved in both groups,espeeially in the cognitive training group(P

Animals ; Behavior, Animal ; Reproduction ; physiology ; Social Behavior ; Tupaiidae ; physiology

10.3969/j.issn.2095-4344.2013.23.003

Peripheral blood CD_5~+B cell was detected by flow cytometry in patients with Graves′ disease (GD) before and after treatment. As compared with normal controls, peripheral blood CD_5~+B cells in a group of 43 patients with GD showed a significant increase in number [(17.0+5.1)% vs (39.5+12.4)%, P

OBJECTIVETo evaluate the clinical value of (89)SrCl(2) (Ke xing Inc, Shanghai) as a palliative therapy modality for cancer patients with bone metastasis.

METHODSIn 504 cancer patients with painful limitation of movement due to bony metastasis, a dose of 1.48-2.22 MBq/kg (40-60 uCi/kg) iv infusion of (89)SrCl(2) was given.

RESULTSIn 97 patients (19.2%) there was no improvement in pain and life quality, 298 patients (59.1%) showed mild to moderate improvement (moderately effective), 109 patients (21.6%) became free of pain and were subsequently fully ambulatory (markedly effective). The pain relief appeared from D1-D46 after (89)SrCl(2) administration, most frequently from D5-D14. The palliative effect could last for about 56 days to 13 months. Repeated bone scans of some patients showed that the metastatic foci in the bone became smaller or even disappeared gradually after the administration of (89)SrCl(2). Approximately 55% of patients experienced grade I approximately III bone marrow depression attributable to (89)SrCl(2), which would return to the pre-treatment level within 3 approximately 9 months.

CONCLUSION(89)SrCl(2) is effective and safe for the relief of bone pain and improvement of quality of life in cancer patients with painful bony metastasis.

Adult ; Aged ; Aged, 80 and over ; Bone Neoplasms ; complications ; radiotherapy ; secondary ; Breast Neoplasms ; pathology ; Female ; Humans ; Lung Neoplasms ; pathology ; Male ; Middle Aged ; Pain Measurement ; Pain, Intractable ; etiology ; radiotherapy ; Quality of Life ; Strontium Radioisotopes ; therapeutic use

OBJECTIVETo investigate the pathological diagnosis, surgical treatment and prognostic factors of gastrointestinal stromal tumors (GISTs).

METHODSThe clinicopathological data of operated 96 patients with GISTs were analyzed retrospectively. Expression of CD117, CD34, SMA and S-100 was determined by immunohistochemical methods.

RESULTSExpression of CD117, CD34, SMA and S-100 was 79.2% (76/96), 58.3% (56/96), 35.4% (34/96) and 9.4% (9/96). Benign tumor 23 and malignant 73. Of the malignant, the omentum was resected in 39 and the rest remained, of which the recurrent and metastatic rates were 5.1% and 26.5% (P < 0.05). The safety margin between the normal intestine and tumor was > 5 cm in 46 patients; while in the other 27 patients, it was < 5 cm. The recurrent and metastatic rates were 6.5% and 29.6% (P < 0.05), respectively. The 5-year survival rates of benign and malignant GISTs were 91.5% and 57.3% (P < 0.05).

CONCLUSIONThe application of immunohistochemical markers CD117 and CD34 are supplementary to pathological diagnosis. The adapting of rational primary treatment, including complete tumor resection and prophylactic omentectomy, is able to reduce the recurrence of GISTs.

Adolescent ; Adult ; Aged ; Antigens, CD34 ; metabolism ; Child ; Female ; Follow-Up Studies ; Gastrointestinal Stromal Tumors ; diagnosis ; metabolism ; pathology ; surgery ; Humans ; Liver Neoplasms ; secondary ; Lymphatic Metastasis ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; Omentum ; surgery ; Peritoneal Neoplasms ; secondary ; Proto-Oncogene Proteins c-kit ; metabolism ; Retrospective Studies ; Survival Rate

Objective To investigate the curative effect and feasibility of closed reduction with elastic intramedullary nailing and open reduction with Kirschner wire fixation in treatment of obviously displaced radial neck fractures in children. Methods From July 2006 to December 2007, 18 children with types Ⅱ and Ⅲ O' Brien radical neck fractures were admitted to Nanjing Children' s Hospital. Of all, six children received open reduction and fixation with Kirschner wire and six weeks of cast immobilization; the other 12 children received closed reduction and fixation with elastic intramedullary nail and three weeks of cast immobilization. The children were followed up for mean 12 months to investigate postoperative functional recovery of the elbow joint and presence of complications. Results All children achieved excellent clinical outcomes, without excessive radial bone growth, early closure of radial bone marrow, bone bridge formation or ectopic calcification around the joint. According to Tibone and Stoltz' s clinical evaluation methods, closed reduction with elastic intramedullary nailing had less trauma, faster recovery, fewer complications and better cosmesis than traditional open reduction with Kirschner wire fixation for children with obviously displaced radial neck fractures. Conclusion Closed reduction with elastic intramedullary nailing is a better option for obviously displaced radial neck fractures in children.

Objective To explore the application value of surgical operation combined with neoadjuvant chemoradiation therapy for rectal carcinoma in phase Ⅱ and Ⅲ and to evaluate the effect of surgical resection. Methods A retrospective analysis was performed from January 2012 to January 2017, including 70 cases of middle and lower rectal carcinoma in phase ⅡandⅢin the First Affiliated Hospital of Hebei North University.Neoadjuvant concurrent chemoradiotherapy before operation was applied.Neoadjuvant radiotherapy: total dose 50 Gy, 2.0 Gy for once, 5 times per week, 5 weeks in total, the radiation field 5 wild for pelvic irradiation. Neoadjuvant chemotherapy: XELOX (oxaliplatin, capecitabine) / FOLFOX (oxaliplatin, leucovorin, 5-fluorouracil) was used for synchronous chemotherapy. After radiotherapy, the patients received surgery in 6-8 weeks. All the operations were performed according to the total mesorectum excision (TME) specification.Results A total of 70 patients underwent neoadjuvant concurrent chemoradiotherapy.The adverse effect rate was 15.71 % (11/70) of gradeⅠand 7.14 % (5/70) of gradeⅡ. No gradeⅢandⅣadverse reactions occurred. The tumor stage of 94.29 % (66/70) patients reduced. The TNM stage of the postoperation was decreased compared with that before neoadjuvant chemoradiotherapy (χ 2= 7.846, P < 0.05). Tumor resection rate was 94.29 % (66/70). Conclusion Surgical operation combined with neoadjuvant concurrent chemoradiotherapy before operation for middle and lower rectal carcinoma in phase ⅡandⅢhas a favorable efficacy and safety,which can alleviate the tumor staging and increase the eradication rate of tumors.

Background: The influencing factors of diabetic kidney disease (DKD) in Chinese patients with type 2 diabetes mellitus (T2DM) were explored to develop and validate a DKD diagnostic tool based on nomogram approach for patients with T2DM. Methods: A total of 2,163 in-hospital patients with diabetes diagnosed from March 2015 to March 2017 were enrolled. Specified logistic regression models were used to screen the factors and establish four different diagnostic tools based on nomogram according to the final included variables. Discrimination and calibration were used to assess the performance of screening tools. Results: Among the 2,163 participants with diabetes (1,227 men and 949 women), 313 patients (194 men and 120 women) were diagnosed with DKD. Four different screening equations (full model, laboratory-based model 1 [LBM1], laboratory-based model 2 [LBM2], and simplified model) showed good discriminations and calibrations. The C-indexes were 0.8450 (95% confidence interval [CI], 0.8202 to 0.8690) for full model, 0.8149 (95% CI, 0.7892 to 0.8405) for LBM1, 0.8171 (95% CI, 0.7912 to 0.8430) for LBM2, and 0.8083 (95% CI, 0.7824 to 0.8342) for simplified model. According to Hosmer-Lemeshow goodness-of-fit test, good agreement between the predicted and observed DKD events in patients with diabetes was observed for full model (χ2=3.2756, P=0.9159), LBM1 (χ2=7.749, P=0.4584), LBM2 (χ2=10.023, P=0.2634), and simplified model (χ2=12.294, P=0.1387). Conclusion LBM1, LBM2, and simplified model exhibited excellent predictive performance and availability and could be recommended for screening DKD cases among Chinese patients with diabetes.