The treatment of hereditary retinal disease is still one of the contemporary scientific problems.Leber congenital amaurosis (LCA) is one type of congenital retinal diseases.Desirable results have been achieved in ongoing clinical trials of gene therapy for LCA,and the efficacy and safety in the intraocular injection of a gene inserted in an adeno-associated virus (AAV) have been verified abroad.These results bring hope and opportunity to LCA patients.China has more hereditary retinal disease patients,but gene therapy for hereditary retinal disease and LCA is lacking.Rightly interpreting and objectively evaluating the clinical trials of gene therapy of LCA will provide us with many important references and useful clues to further help us organize and implement clinical trials of gene therapy for hereditary retinal disease in the future.

Background Glucocorticoid is a common drug for treatment of thyroid-associated ophthalmopathy (TAO) with good effectiveness.But some adverse reactions of glucocorticoid are inevitable.At recent years,99technetium-methylene bisphosphonate(99Tc-MDP) is being paid more and more attentions in the treatment of TAO,but its effectiveness and safety is worthy of comparison to traditional treatment methods.Objective This study was to evaluate the efficacy of treatment with intravenous injection of 99Tc-MDP for TAO.Methods The Cochrane Library,CNKI,PubMed,Wanfang database,Weipu net were searched in computer and Google Scholar was searched manually.The randomized controlled trail (RCT) of intravenous injection of 99Tc-MDP for TAO were collected from establishment of database through April,2012.The quality of included literature was assessed based on the methodology of the study.The evaluating indexes included the primary treating outcomes,such as total efficacy,exophthalmic extent and recurrence rate as well as secondary outcomes such as adverse effect.RevMan 5.1 software was used for Mate analysis.Results A total of 11 RCTs were identified with 706 patients.Subgroup analysis was carried out based on the outcome measures and intervention.No significant difference was found in the overall effective rate between intravenous injection of 99Tc-MDP and immunosuppressive treatment (RR =0.96,95 ％ CI:0.76 to 1.22,P=0.740).However,the effective rate was significant different between intravenous injection of 99Tc-MDP and oral prednisone (RR =1.25,95 ％ CI:1.06-1.46,P =0.007) or between intravenous injection of 99 Tc-M DP and the blank control group (RR =2.53,95 ％ CI:1.68-3.81,P =0.000).Significant difference also was found in the total effective rate between intravenous injection of 99Tc-MDP with methyprednisone and methyprednisone alone (RR =1.27,95％ CI:1.05-1.53,P =0.010).There were significant differences in the effective rate of proptosis between intravenous injection of 99Tc-MDP and oral prednisone (RR=2.02,95％ CI:1.44-3.56,P=0.020).The recurrence rate of TAO was significant different between intravenous injection of 99Tc-MDP and oral prednisone (RR =0.51,95％ CI:0.33-0.78,P=0.002).Less adverse responses were seen in the intravenous injection of 99Tc-MDP group than the oral prednisone group and immunosuppressive treatment group.Conclusions Intravenous injection of 99Tc-MDP for TAO appears to be of a similar effectiveness to immunosuppressive method.The combination of intravenous injection of 99Tc-MDP with methyprednisone seems to be more effective than methyprednisone alone,with little systemic adverse effect after application.

Objective To explore the value of prenatal diagnosis and sonographic features of lenticulostriate vasculopathy (LSV). Methods Prenatal ultrasonographic features of three cases of fetal lenticulostriate vasculopathy were retrospectively analysed associated with maternal TORCH screen, fetal magnetic resonance imaging, neonatal physical examination and TORCH screen. Results Prenatal sonographic diagnosis of case 1 demonstrated fetal LSV as well as fetal growth restriction (FGR), periventricular hemorrhage, mitral and tricuspid regurgitation, hydropericardium and catatact. Prenatal sonographic diagnosis of case 2 demonstrated fetal LSV, FGR, periventricular hemorrhage, mitral and tricuspid regurgitation. Prenatal sonographic diagnosis of case 3 showed fetal LSV and intraventricular hemorrhage. Maternal TORCH screens of case 1 and case 3 was negative, while in case 2 was positive. Neonatal examinations of case 1 showed cataract, hearing impairment and congenital infection. Case 3 showed prompted retinal hemorrhage, sinus bradycardia, hyperbilirubinemia and congenital infection. In case 2, maternal teratogenic pathogen screen was positive and the baby did not survive because the mother decided to stop pregnancy in 34 weeks. Conclusions Fetal LSV could be imaged by prenatal ultrasonography. Fetal LSV might indicate intrauterine infection when other abnormalities were accompanied. Ultrasound might be useful for the cases with negative maternal TORCH screen results.

ObjectiveTo find out the electroencephalogram(EEG)change of the children with language retardation.MethodsThe EEG change and prognosis of 78 cases of language retardation children were analysed and compared with normal ones.ResultsThe EEG abnormal rate of language retardation was 69.3%,while that of the normal children was 10%(P<0.001).Conclusions The EEG is helpful to understand the developmental status of brain functions.

ADP-ribosyl Cyclase 1 ; metabolism ; Aged ; Epstein-Barr Virus Infections ; Herpesvirus 4, Human ; isolation & purification ; Humans ; Interferon Regulatory Factors ; metabolism ; Ki-67 Antigen ; metabolism ; Male ; Nasal Cavity ; Nose Neoplasms ; metabolism ; pathology ; surgery ; virology ; Plasmacytoma ; metabolism ; pathology ; surgery ; virology

Adolescent ; Child, Preschool ; Coronary Aneurysm ; diagnosis ; etiology ; Coronary Angiography ; Echocardiography ; Female ; Humans ; Infant ; Male ; Mucocutaneous Lymph Node Syndrome ; complications

Biomarkers, Tumor ; metabolism ; Humans ; Immunoblastic Lymphadenopathy ; metabolism ; pathology ; Lymphoma ; genetics ; metabolism ; pathology ; Lymphoma, Follicular ; genetics ; metabolism ; pathology ; Lymphoma, T-Cell, Peripheral ; genetics ; metabolism ; pathology ; Signal Transduction ; Skin Neoplasms ; metabolism ; pathology ; T-Lymphocytes, Helper-Inducer ; metabolism ; pathology

Transient receptor potential vanilloid 1 (TRPV1) is a non-selective positive ion channel that is mainly expressed in sensory neurons and a member of transient receptor potential (TRP) family. The receptor could be activated by mechanical irritation, chemical irritation or endogenous ligand to mediate pains and cause injury to body functions. Traditional Chinese medicine believes that the mechanism of pain is that "stagnation leads to pain". Specifically, both of the contracture and tautness caused by cold and the blood stasis could result in blood impassability and pain. Most of traditional Chinese medicines for clearing heat and removing toxicity have the anti-inflammatory effect, while those for warming interior, and promoting blood circulation to remove blood stasis have the effect in smoothening blood vessels. Therefore, either with the anti-inflammatory effect or the effect in smoothening blood vessels, traditional Chinese medicines for clearing heat and removing toxicity, warming interior, and promoting blood circulation have the analgesic effect In this paper, the authors summarize the analgesic effect of the above three traditional Chinese medicines, with TRPV1 as the target.
Analgesics ; administration & dosage ; Animals ; Drugs, Chinese Herbal ; administration & dosage ; Humans ; Pain ; drug therapy ; genetics ; metabolism ; TRPV Cation Channels ; antagonists & inhibitors ; genetics ; metabolism

Objective To investigate the effects of montelukast(MK),a selective cysteinyl leukotriene receptor 1 antagonist on interleukin(IL)-5 and eotaxin expression as well as serum total immunoglobulin E(IgE) production during MK treatment of mouse acute asthma airway inflammation.Methods Sensitized Balb/c mice were challenged by ovabumin(OVA)to establish the acute asthmatic mo-(del).Twenty-five mg/kg of MK(MK group) or Saline(Saline group)were given by intravenously for 3 days.Cellular infiltration of bronchoalveolar larvage fluid(BALF) were assessed by Wright staining.Production of IL-5 and eotaxin in the lung or BALF and serum IgE were determined by enzyme linked immunosorbent assay(ELISA).The expression of IL-5 and eotaxin mRNA were measured by semi-quantified reverse transcriptase-polymerase chain reaction(RT-PCR).Plasma MK level was determined by liquid chromatography.Results After 24 h OVA challenge,the numbers of total white blood cells,neutrophils and eosinophils(EOS)of BALF were(26.0?18.9)?10~7/L,(5.92?8.09)?10~7/L and(0.74?0.88)?10~7/L in MK treatment group.They were significantly reduced compared with those in Saline group,respectively(P80%.The level of IL-5 in BALF and lung tissue were(48.52?14.45) ng/L and(27.40?9.62) ng/g protein in MK group,which significantly declined compared with that in saline group;BALF eotaxin level declined too.Serum IL-5 and total IgE level were also significantly reduced;IL-5 mRNA expression in lung significantly decreased.Eotaxin and its mRNA expression in lung were not decreased significantly.Conclusion MK(exerts) its anti-inflammatory effect mainly through the suppression of IL-5 and IgE production.

Objective To investigate rheumatic disease manifestations in patients with myelodysplastic syndromes and explore possible causes.Methods Nine myelodysplastic syndromes(MDS)inpatients with rheumatic disease manifestations were reviewed retrospectively.Results Nine patients with the diagnosis of MDS had active rheumatic disease manifestations with various degree of hypergammaglobulinemia and positive autoantibodies.Two patients had rheumatoid arthritis(RA)and RA+anti-phospholipid syndrome(APS),four systemic lupus erythematosus(SLE)and SLE+polymyositis(PM),one patients had adult onset Still's disease, one with acute arthritis and cutaneous vassulitis,one had lupus-like manifestations including polyserositis,al- buminuria,hypocomplementemia and positive Commb's test.Conclusion The rheumatic disease manifesta- tions in patients with myelodysplastic syndromes are characterized by various active rheumatic disease manifes- tation.Immunological abnormalities and ineffective hematopoiesis are persistent.Immunologic abnormalities in MDS such as impaired function of T and B cells,hypergammaglobulinemia,positive autoantibodies,may be the causes of various rheumatic manifestations.We suggest that there is a significant association between myeludys- plastic syndrome and rheumatic diseases.