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.

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.

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.

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.

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 observe the clinical effect of‘setting fire on the mountain’ manipulation by Lu Shou-yan for cervical radiculopathy as well as the infrared thermographic changes of the cervical area before and after treatment.
Methods:A total of 120 eligible cases with cervical radiculopathy were randomly allocated into an observation group and a control group, 60 in each group. Cases in the observation group were treated with Lu Shou-yan’s ‘setting fire on the mountain’ manipulation, whereas cases in the control group were treated with even reinforcing-reducing manipulation. After two courses of treatment, the infrared thermographic changes and overall therapeutic efficacies in the two groups were compared.
Results: The recovery rate and total effective rate in the observation group were 68.3%and 98.3%respectively, versus 28.3%and 81.7%in the control group, showing statistical differences in recovery rate and total effective rate (both P<0.01). There was between-group statistical significance in comparing the infrared thermography after treatment (P<0.01).
Conclusion:‘Setting fire on the mountain’ manipulation by Lu Shou-yan is better than even reinforcing-reducing manipulation for cervical radiculopathy.

Objective:To assess the efficacy and safety of electroacupuncture (EA) at Houxi (SI 3) in treating acute lumbar sprain. Methods: Randomized controlled trials (RCTs) involving EA at Houxi (SI 3) for acute lumbar sprain were retrieved from PubMed (1966-2014), EMBASE (1980-2014), Cochrane Library (Issue 1, 2014), CQVIP Database (1989-2014), Wanfang Digital Journal (1998-2014), the Chinese Biological Medical Literature Database (CBM, 1978-2014), and China National Knowledge Internet (CNKI, 1979-2014). The collection of data also adopted hand-search of the relevant journals from the Library of Shanghai Jiao Tong University. All of the data were first evaluated and extracted by two reviewers independently with a specially designed form. Then, the available data were analyzed by the Cochrane Collaboration's RevMan 5.2.0 software. Results:A total of 6 trials involving 1 288 patients were eligible. Meta-analysis showed that the total effectiveness rate in the EA group was significantly different when compared with Nimesulide [RR=1.33; 95% CI (1.19 to 1.49)] and Mobic [RR=1.08; 95% CI (1.03 to 1.14)], but similar to that of acupuncture at Yaotongdian (EX-UE 7) [RR=71.09; 95% CI (1.00 to 1.19)] and Diclofenac Sodium [RR=1.08; (95% CI 0.96 to 1.21)]. The recovery rate in the EA group was significantly different when compared with Mobic [RR=1.67; (95% CI 1.45 to 1.92)] and Nimesulid [RR=1.37; (95% CI 1.15 to 1.62)], but similar to that of acupuncture at Yaotongdian [(RR=1.35; 95% CI 0.99 to 1.84)] and Diclofenac Sodium [(RR=1.19; 95% CI 0.88 to 1.61)]. Conclusion:Up to the search date, there are few high quality RCTs to evaluate the clinical efficacy of EA at Houxi (SI 3) for acute lumbar sprain, especially studies in English. Yet EA at Houxi (SI 3) still appeared to be an efficacious method for acute lumbar sprain, despite several inherent defects of the included studies. Further large scale trials are required to define the role of EA at Houxi (SI 3) in the treatment of this disease.

Objective To analyze the mutation characteristics of GBA gene in one patient with Gaucher disease and platelet transfusion refractoriness.Methods A female patient with anemia and thrombocytopenia showed platelet transfusion refractoriness,and then the proband and her family were performed bone marrow smear,β-glucocerebrosidase activity in leukocytes (dried blood spot assay),Bultrasonography and gene sequencing examination and pedigree investigation.Results Pedigree investigation showed that the heterozygous mutation of GBA gene existed in the father,mother,son,daughter and sister of the proband.Bone marrow cytomorphologic examination showed that Gaucher cells accounted for 6.0％ in the female patient.The β-glucocerebrosidase activity in leukocytes was 3.78 nmol/(h · mg Pro).B-ultrasonography showed slightly splenomegaly.Gene sequencing found that the homozygous mutation of GBA gene,c.484A ＞ G,existed in the female patient.Conclusion The patients with Gaucher disease may appear platelet transfusion refractoriness due to hypersplenism.The mutation of GBA gene is the main pathogenic factor of the family with Gaucher disease.