Leber congenital amaurosis (LCA) is extremely severe hereditary retinal dystrophy,because it leads to congenital bilateral blindness in early childhood.With the development of molecular genetics and the therapeutic gene replacement technology,gene therapy clinical trials have obtained exciting results on the basis of relatively satisfied with preliminary clinical experimental results by adeno-associated virus (AAV) vector-mediated gene therapy in the past decade.These researching methods include intravitreal injection and subretinal space injection of gene vector,and the investigating indexes include evaluations of visual function and safety,such as immune reaction of the animals,ocular histopathological change,complications and bio-distribution of gene sequence.The preliminary success of the LCAⅡ Ⅱ gene therapy will give some clues to the other inherited retinal diseases.This review focuses on the present status of pre-clinical animal experiments of its gene therapy.

Hashimoto’s thyroiditis (HT) is strictly related to a cellular immune response with lymphatic infiltration of the thyroid gland by T and B cells, as well as a humoral immune response leading to specific antibody production. The synchronous appearance of HT and papillary thyroid cancer (PTC) indicates an immunological link between the two entities. In this article, we provide a review of the etiology of HT and the potential immunological mechanism of HT coexistent with PTC, which will provide references for new ideas for clinical diagnosis and treatment of HT coexistent with PTC in the future.

Objective　To study the effects of MIP-1β and TGF-β antibody on CD34+ cells from cord blood in stroma-contact culture system. Methods　Immunomagnetic selected CD34+ cells were inoculated onto the pre-established irradiated human stroma layer. MIP-1β, TGF-β antibody (20 μg/ml) and MIP-1β+anti-TGF-β (5 μg/ml) were added on day 0 and day 5. On day 5 and day 10, cell counting, hematopoietic progenitor cells count were made by semi-solid culture and CD34+ cells were assayed by FACS. Results　On day 5, no significant difference of total cell number was observed as compared with the control group (P>0.05), but the number of CD34+cells, CFC, and HPP-CFC in TGF-β antibody and MIP-1β+ TGF-β antibody groups was significantly higher than that in the control (P<0.05). On day 10, the number of total cell, CD34+ cells, CFC, and HPP-CFC in TGF-β antibody and MIP-1β+ TGF-β antibody groups was significantly higher than that in the control (P<0.05). No significant difference was observed between groups MIP-1β and control either on day 5 or day 10 (P>0.05). Conclusion　MIP-1β has no significant effect on the CD34+ cells as compared with the control while the CD34+ cells can be expanded 1-3 folds with TGF-β antibody (20 μg/ml) or MIP-1β+ TGF-β antibody (5 μg/ml) in 10 days. There are synergic interactions between MIP-1β and TGF-β antibody.

A new method for determining transaminase activity based on the color change of the reaction solution was established, by using alanine-dependent transaminase VfTA from Vibrio fluvialis JS17 as the research object coupled with pyruvate oxidase and horseradish peroxidase. After the optimization of the conditions, the linear relationship between VfTA activity units and the absorbance at 400 nm was investigated. This method was also applied to determine the activity of commercial transaminase ATA117. The results showed that the detection limit of transaminase VfTA activity was up to 0. 45 U/mL and the detection limit of ATA117 activity was up to 0. 5 U/mL. The transaminase activity could be quickly judged according to the color depth of the reaction solution.

Objective: To observe the clinical efficacy of combining acupuncture and medication in treating chronic atrophic gastritis (CAG) due to spleen-stomach deficiency.
Methods: Totally 176 patients with CAG were randomized into two groups by the random number table. The 91 subjects in the treatment group were intervened by acupuncture and oral Chinese patent medication; the other 85 subjects were by oral Chinese patent medication alone. The clinical efficacies were compared at the end of intervention.
Results: After a treatment course, the total effective rate was 87.9% in the treatment group versus 75.3% in the control group; according to the gastroscopy and pathological biopsy examinations, the total effective rate was 85.7% in the treatment group versus 74.1% in the control group. There were significant differences in comparing the clinical efficacy, gastroscopy and pathological examinations between the two groups (P<0.05).
Conclusion: Combining acupuncture and medication can produce a better therapeutic efficacy than medication alone in treating CAG due to spleen-stomach deficiency.

Objective To compare merits and shortages between minimally invasive small incision surgical repair and interventional device closure for isolated secundum atrial septal defect (ASD). Methods A retrospective analysis was made on clinical results of 69 patients with isolated secundum ASD from January 2004 to June 2006. Among them 37 patients underwent minimally invasive small incision surgical repair on the beating heart (Small Incision Group) and 32 patients underwent interventional device closure of ASD (Interventional Group). Results There were no deaths in either group. The small incision surgical repair was successfully completed in all the 37 patients, with the procedure time, cardiopulmonary bypass time, and hospital stay being 145.86?27.84 min, 35.11?8.45 min, and 15.46?3.09 d, respectively. Major and minor complications occurred in 2 and 6 patients, respectively. The hospitalization costs was 21 900?3600 yuan. In the Interventional Group, the closure was successfully performed in 30 out of 32 patients. The procedure time and hospital stay were 88.59?7.75 min and 10.81?5.02 d, respectively. Major and minor complications occurred in 1 and 2 patients, respectively. The hospitalization costs was 27 800?3900 yuan. Follow-up observations were performed in the Small Incision Group for 3~12 months in 20 patients and for 12~30 months in 17 patients, and in the Interventional Group for 3~12 months in 16 patients and for 12~30 months in 14 patients. No residual shunt was found. Conclusions Both of minimally invasive methods are safe and effective for isolated secundum ASD. Small incision surgical repair involves lower costs, higher successful rate, and broader indications, whereas interventional device closure offers shorter hospital stay, milder trauma, and better cosmetic results.

Severe combined immunodeficiency(SCID)is a kind of severe primary immunodeficiency disease.Patients often develop symptoms after birth, which is characterized by recurrent and life-threatening infection, sometimes accompanied by varying degrees of dysplasia.According to the classification proposed by the PID expert Committee of the International Union of Immunological Societies, SCID is clinically classified by the number of lymphocytes.Early screening and intervention of SCID is significant to improve the prognosis.With the promotion of TREC and other early screening methods, the detection rate of SCID has significantly improved, but the accurate detection rate in different ethnic groups still needs further explored.Hematopoietic stem cell transplantation is a traditional therapy for radical cure of SCID.And the safety of gene therapy for SCID has been gradually guaranteed with continuous improvement during recent years.This article will review the classification, early screening methods and treatment progress of SCID.

Objective To investigate the clinical characteristics and causes of recurrent purulent meningitis and its treatment.Methods The clinical data of 36 children with recurrent purulent meningitis were analyzed retro-spectively at Tianjin Children′s Hospital from 1 995 to 201 4.Based on the underlying illness,the following examinations were done respectively:brainstem electric response audi -ometry(BERA),temporal bone computed tomography,head magnetic resonance imaging(MRI),spinal core MRI,and blood immunoglobulin,etc.Results There were 24 boys and 1 2 girls involved in this study.The age of the initial onset in these patients ranged from 20 months old to 1 5 years old,with the average age of 5 year and 9 months old.There were 2 to 7 episodes in these cases.The etiology was identi-fied:1 9 cases (52.78%)with congenital anatomical abnormalities,1 2 cases of congenital inner ear malformation with cerebrospinal fluid (CSF) leakage,1 case of ear -nose CSF leakage,6 cases of pilonidal sinus.Fifteen cases (41 .67%)had anatomical abnormalities,1 2 cases had head and facial trauma,1 case had nasal polyps surgery,1 case (2.77%)had a history of chronic mastoiditis,and 1 case had a history of cochlear implant surgery;1 case of congenital humoral immunodeficiency disease X -linked agammaglobulinemia -free;1 case (2.77%)had humoral immunodefi-ciency disease.The anti -infection treatment was adopted in the acute -phase and then CSF rhinorrhea repair,CSF oto-rrhea,cerebrospinal fluid leakage,repair of the inner ear,pilonidal sinus resection,supplementary intravenous immuno-globulin around once every 3 months was given respectively in the restoration -phase.Thirty -three cases revealed no recurrence up to 8 months till 1 0 years follow -up,3 cases lost -to -follow -up.Conclusions The recurrent purulent meningitis is a serious infectious disease of the central nervous system,which may result in disabled condition even life -threatening.In order to avoid purulent meningitis recurrence,the corresponding treatment should be chosen ac-cording to different causes.

Objective To investigate the correlation between cytomegalovirus infection and heart rate variability (HRV) in elderly patients with atherosclerosis.Methods 160 patients with coronary heart disease who met World Health Organization diagnostic criteria for coronary heart disease in 1979 were collected.According to the IMTHCMV PP65 antigen test results,patients were divided into positive group (observation group,n=103) and negative group (control group,n=57).We detected the levels of of HRV,metalloprotease-9 (MMP 9) and tumor necrosis factor α (TNF-α) in the two groups in order to access the plaque stability.Results The all sinus standard deviation of RR interval (SDNN),standard deviation of the average NN interval (SDANNI),mean value of sinus standard deviation of RR interval (SDNNI) were lower in observation group than in control group (P ＜0.05).There were no significant differences in square root of the mean squared differences of successive NN intervals (RMSSD) level and percentage of differences exceeding 50ms between adjacent normal number of intervals (PNN50) between the two groups (P＞0.05).The levels of total cholesterol and low density lipoprotein were higher and the levels of MMP 9 AND TNF α were lower in observation group than in the control group (all P＜0.05).Compared with control group,the plaque stability was decreased in observation group [20.4％ (21/103) vs.61.4％ (35/57),x2=4.273,P=0.015].Conclusions Patients with atherosclerosis combined with cytomegalovirus infection have a greater heart rate variability and poorer plaque stability.

Objective To investigate the mechanism of brain derived neurotrophic factor (BDNF) regulated by differ-ent isoforms of tyrosine kinase receptor B (TrkB) in epileptic hippocampal neurons. Methods Primary hippocampal neu-rons were cultured in vitro for 7 days, and divided into two groups, ALLN (calcineurin inhibitor) group and Anisomycin (trans-lation inhibitor) group. ALLN group included control group, control+BDNF group, epilepsy group, epilepsy+BDNF group, control+ALLN group, epilepsy+ALLN group and epilepsy+ALLN+BDNF group. Anisomycin group was sub-divided into con-trol group, control+BDNF group, epilepsy group, epilepsy+BDNF group, control+Anisomycin group, epilepsy+Anisomycin group and epilepsy+Anisomycin+BDNF group. The immunofluorescent technique was used to identificate the hippocampal neurons. Epileptiform discharges were detected by electrophysiological techniques. Western blot assay was used to deter-mine the protein expression of TrkB and phosphorylated TrkB (p-TrkB) in all cell groups. Results (1) In ALLN group, the gray value of p-TrkB/TrkB was higher in control+BDNF group compared with that of control group, the value was higher in epilepsy+BDNF group than that of epilepsy group but was lower than that of control+BDNF group. The gray value of p-TrkB/TrkB was lower in epilepsy+ALLN+BDNF group than that of epilepsy+BDNF group, but no significant difference compared with that of epilepsy+ALLN group. (2) In Anisomycin group:the gray value of p-TrkB/TrkB was higher in control+BDNF group than that of control group. The gray value of p-TrkB/TrkB was higher in epilepsy+BDNF group than that of epilepsy group, but which was lower than that of control+BDNF group. The gray value of p-TrkB/TrkB was higher in epilepsy+Aniso-mycin+BDNF group than that of epilepsy+BDNF group and epilepsy+Anisomycin group. Conclusion The decreased ex-pression of TrkB.T can improve the inhibition of BDNF/TrkB signaling, and BDNF can activate BDNF/TrkB signal pathway in epileptic hippocampal neurons. The increased TrkB.FL protein level by ALLN can’t improve the inhibition of BDNF/TrkB signal pathway.