DNA repair defects are classified as combined immunodeficiencies with associated or syndromic features,including 8 kinds of diseases with mutation of 9 pathogenic gene (ATM,MRE11,NBS1,BLM,RNF168,DNMT3B,ZBTB24,PMS2,MCM4),which are mainly autosomal recessive and monogenic inheritance.This article mainly reviews the pathogenesis,clinical manifestation,immunophenotype,and diagnosis of these diseases.

Objective To investigate the curative efficacy of Guipi granule in treatment of elderly patients osteoporosis with malnutrition and its effects on serum ion levels.Methods A total of 80 patients of osteoporosis with malnutrition in Huzhou Central Hospital from July 2013 to July 2016 in this study were selected and randomly divided into the observation group and the control group with 40 cases in each group.The control group was treated with routine treatment, while the observation group was treated with Guipi granule on the basis of the control group.After three months of treatment, the bone mineral density, leptin, blood calcium, blood phosphorus, alkaline phosphatase, score of TCM syndrome and the treatment effect were compared. Results After treatment, the bone mineral density and leptin in the observation group (0.78 ±0.09)g/cm2, (12.45 ±1.85)ng/mL were higher than the control group (0.69 ±0.07)g/cm2, (9.85 ±1.52 ng/mL)(P <0.05), the blood calcium, blood phosphorus, alkaline phosphatase in the observation group (2.56 ±0.08)mmol/L, (1.43 ±0.13)mmol/L, (33.41 ±9.31)U/L were better than the control group (2.27 ±0.06)mmol/L, (1.85 ±0.21)mmol/L, (39.12 ±10.21)U/L(P<0.05), the total score of TCM syndrome in the observation group (2.85 ±0.32) were lower than the control group (5.03 ±0.49) (P<0.05), the total effective rate of clinical efficacy in the observation group 95.00%(38/40) was higher than the control group 67.50%(27/40)(P<0.05).Conclusion Guipi granule is well for osteoporosis with malnutrition patients, which can effectively improve bone mineral density, maintain the blood calcium and blood phosphorus balance, reduce the level of alkaline phosphatase, relieve the clinical symptoms.

Objective To compare the effect of establishment of Coronary angiography model in minipigs with right femoral Judkins catheter and 5F universal catheter .Methods Ninteen minipigs were randomized into two groups with right femoral Judkins catheter (ten minipigs)and 5F universal catheter(nine minipigs). Success rate,operation time,X-ray irradiation time were observed .Results The success rate, operation time ,X-ray irradiation time after Coronary angiography in right femoral Judkins catheter group was 100%,(5.68 ±3.53 ) min,(20.84 ±2.45 ) min,in 5F universal catheter group was 88.8%,(6.98 ± 4.13 )min,(26.23 ±8.45 )min.This difference was signifficant( P <0.01).Conclusion Coronary an-giography in minipigs with right femoral Judkins catheter has the advantage of high success rate , less opera-tion time, X-ray irradiation time , is more suit to coronay anatomy of the minipig .

Objective: To observe the histological changes of lamina extema cranii at both the graft and donor areas after having been grafted in animal experiment. Methods; 4 mini pigs aged from 8 to 12 months were selected. Part of the outer table of skull (2.5 cm × 1.0 cm) was decorticated and was divided equally. Both were implanted on each side of the snouts of animals. 2 pigs were selected randomly and were killed 12 weeks postoperation. Each 1, 0 cm ×0. 5 cm specimen was harvested and histological study was performed. The other 2 animals were killed 24 weeks after operation. Gross inspection of the donor site was performed and histological study was done. Results; In the graft area; bone absorption was obvious 12 weeks postoperation, but bone matrix increased obviously at 24 weeks postoperation. Results of scanning electron microscope showed that interface between bone graft and recipient site was discernment and collagen type I was malaligned 12 weeks postoperation. Collagen fibers were in good order and good mineralization was found 24 weeks postoperation. In the donor area; small amounts of new bone formation could be seen and alignment of cemental line was chaotic 12 weeks postoperation. At 24 weeks, bone formation was obvious and alignment of haversian canal was regular. Scanning electron microscopy showed that structure of the tissue was uneven and disorder at 12 weeks postoperation. Collagen fibers were in good order and good mineralization was found 24 weeks postoperation. On gross view, raw surface of the donor site got complete healing, os-teanagenesis was incomplete and introcession could be observed in the local area. Conclusion; Histological remodeling of lamina exter-na cranii is complete at 24 weeks after having been grafted. The donor site can regenerate but morphologic introcession could be observed.

BACKGROUND: At present, the internationally public recognition of childhood trauma questionnaire is the authorized version of Bernstein,American psychologist, in 1998.OBJECTIVE: To set up the scale of Chinese version of childhood trauma questionnaire with 28 items and analyze its reliability and validity.DESIGN: Community investigation was designed.SETTING: Mental Health Institute, Xiangya Second Hospital, Central South University.PARTICIPANTS: Totally 441 students from 8 classes were randomized from a countryside middle school of a city in Henan in October 2004.METHODS: A total of 441 students were measured with childhood trauma questionnaire and 93 of them were re-measured 2 months later. Childhood trauma questionnaire included 28 items and divided into 5 subscales,named emotional abuse, physical abuse, sexual abuse, emotional neglect and physical neglect. Five grades were adopted in each item, named 1 score: never; 2 scores: occasionally; 3 scores: sometimes; 4 scores: often;and 5 scores: always. Every subscale was varied from 5 to 25 scores, and the total results were in the range from 25 to 125 scores. It was to analyze the internal identical property, reliability of re-measuring, average correlation coefficient among items and correlation coefficient between total score and every subscale. And the analysis was carried on validation factors. MAIN OUTCOME MEASURES: Homogeneity reliability, re-measuring reliability and validity, absolute fit index, relative fit index and parsimony index of childhood trauma questionnaire were involved.RESULTS: Totally 441 pieces of questionnaire were distributed on the spot and 435 pieces of questionnaire with integral and regular answers were collected. Totally 93 pieces of questionnaire were delivered for the second evaluation 2 months later and 93 pieces with regular answers were collected. All of those were used for the evaluation of re-measuring reliability of such measuring table. ① Cronbach α coefficient was 0.64 in Chinese version of childhood trauma questionnaire of and re-measuring reliability was 0.75. Cronbach αcoefficient of every subscale was varied from 0. 16 to 0.65 and re-measuring reliability was in the range from 0.27 to 0.73. The correlation coefficient among items was varied from -0.20 to 0. 44; ②The correlation coefficient between total score and every subscale was varied from 0. 36 to 0.68 and the correlation coefficient among subscales was from-0.01 to 0.39; ③ Indexes of validation factor analysis:The load coefficient of physical neglect was varied from 0.09 to 0. 64 and that in 2 items was less than 0.20. Multiple correlation coefficient was varied from-0. 20 to 0. 82, X2/df was 2.48 and root mean square error of appr0ximation(RMSEA) was 0.06. Added indexes: IFI (0. 76), CFI (0.75) and TLI (0.72) .Parsimony index: PNFI (0.58) and PCFI (0. 67).CONCLUSION: Chinese version of childhood trauma questionnaire provides better reliability and validity. According to validation analysis, except physical neglect, every index tallies with psychometric standards. The results of analysis on normative pathways are satisfactory, which explains that the subscales of such measuring model provide good matching property and conception validity.

Humans ; Severe Combined Immunodeficiency ; therapy

DNA End-Joining Repair ; Humans ; Immunologic Deficiency Syndromes ; genetics

Objective To establish a RP-HPLC fingerprinting analysis method for quality evaluation and control of the four variants of Chrysanthemi Morifoli Flos. Methods RP-HPLC was used to establish the fingerprinting method.Results Despite of the similarity in terms of holistic HPLC chromatograms, the four variants of Chrysanthemi Morifoli Flos exhibit characteristic fingerprints and can be readily recognized by similarity clusters. Conclusion A simple and reliable HPLC fingerprinting method has been developed and validated to authenticate the four variants of Chrysanthemi Morifoli Flos, providing a scientific basis for quality control of Chrysanthemi Morifoli Flos.

Objective To investigate the efficacy and safety of preoperative systemic chemotherapy combined with regional intraarterial chemoembolization in the treatment of locally advanced gastric cancer.Methods Clinical data of 158 patients of locally advanced gastric receiving neoadjuvant chemotherapy cancer from January 2008 to July 2012 were retrospectively analyzed.Patients were divided into two groups:those who received preoperative systemic chemotherapy plus regional intraarterial chemoembolization (group A,n =78) and those who received preoperative systemic chemotherapy (group B,n =80).Radical resection was perfomed after 3 to 4 weeks.Results The overall satisfactory rate was significantly higher (60％) in group A compared with 42％ in group B (x2 =6.136,P ＜0.05).The incidence rate of toxicity reaction (except nausea) and postoperative conplications such as anastomotic leakage,intestinal obstruction,poor wound healing,abdominal infection and pulmonary infection were all lower in group A than in group B (all P ＜ 0.05),while the incidence rate of nausea was higher in group A than in Group B (x2 =16.458,P ＜ 0.01).There was no perioperative mortality related to neoadjuvant therapy in two groups.Conclusions Preoperative systemic chemotherapy combined with regional intraarterial chemoembolization was associated with better efficacy,and fewer toxicity reactions and postoperative complications in the treatment of locally advanced gastric cancer.

Objective To study the effect and histocompatibility of urethral extracellular matrix in repair of traumatic urethra defects in rabbits. Methods Model of traumatic urethral defects was made by resecting 1.0-1.5 cm segment of the urethra in 20 rabbits. Then, the defects were repaired by a tube of extracellular matrix of the same length. The dynamic changes of CD4+, CD8+ T cell and CD4+/CD8+ in peripheral blood were detected by flow cytometry at 1,2, 3 and 4 weeks after operation. In the meantime, the immunity response of rabbits was evaluated by lymphocyte transformation test. The repaired segments stained with hematoxylin-eosin (HE) and Van Giesen were studied by histologic and pathologic observations at 10 days, 3, 6 and 24 weeks postoperatively. The urodynamics, urethroscopy and urethrography were performed at 24 weeks postoperatively. Results There was no significant difference in aspects of stimulative index of lymphocyte transformation, T lymphocyte subsets CD4+, CD8+ T cell and CD4+/CD8+ between experimental group and negative control group. Urothelium covered the whole surface of the matrix tube three weeks after operation. The smooth muscle cells increased nearly to normal urethral wall at 24 weeks. Urethrosoopy and urethrography showed glossy matrix tube. There was no statistical difference upon urodynamies between experimental group and control group. Conclusion The urethral extracellular matrix has good histocompatibility and may be a safe and effective material for repairing urethra defects.