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.

Drugs, Chinese Herbal ; adverse effects ; Humans ; Nephritis ; chemically induced ; prevention & control

Objective To evaluate the value of prenatal ultrasound in the interrupted aortic arch (IAA), and analyze the reasons of misdiagnosis and improve diagnostic ratio of this kind of defects. Methods Ultrasonic characteristics were analyzed in 16 fetuses with aortic arch anomalies, which were compared with ultrasound image and autopsy results of the normal fetus. The relativity of fetal IAA and abnormal chromosome was also analyzed. Results Among the 16 cases, 15 cases were confirmed by anatomy and the accuracy of ultrasound diagnosis was 94% (15/16), of which one case was serious constriction of aortic arch, one case was error type, three cases were obtained explicit type due to unsatisfactory results of prenatal ultrasound. The coincidence rate of ultrasonic type was 73% (11/15). All of the corrected diagnosed cases were detected with ventricular septal, of which 5 cases were detected with complete endocardial cushion defect, 9 cases were found extra cardiac malformations. Among the 7 karyotype check cases, 3 cases were diagnosed with Trisomy 18, 1 case Trisomy 13, while the rest 3 cases normal. The incidence rate of Trisomy 18 was 43 % (3/7). Conclusions Prenatal ultrasound shows a high accuracy in diagnosing fetal interrupted aortic arch (IAA ), but there’s a need to be improved in explicit typing. It is difficult to identify fetal interrupted aortic arch (IAA) and serious constriction of aortic arch (COA). The incidence rate of Trisomy 18 in the abnormal chromosome of fetal IAA is high.

Studies have shown that women's menopause caused by permanent cessation of ovarian function is closely related to lipid metabolism disorders. Er-xian Decoction has been used in the clinical treatment for gynecological diseases and has a good effect on diseases related to reduced sex hormone function. In this study, metabolomics was performed on bilateral ovariectomized model rats within 12 weeks after modeling to mimic the physiological state of menopausal women in different menopausal stages and Er-xian Decoction dosed model rats. The results of liver oil red O staining sections showed lipid metabolic disorder of bilateral ovariectomized model rats and the regulating effects of Er-xian Decoction. 46 potential biomarkers (6 steroid hormones, 3 sphingolipids, 11 phospholipids and 26 glycerides) in plasma and 32 potential biomarkers (1 steroid hormones, 20 phospholipids and 11 glycerides) in liver were obtained based on lipidomics analysis. Then, we analyzed the differential metabolic pathways and construct the lipid metabolism network significantly regulated by Er-xian Decoction. The results provided valuable information for in-depth understanding of the gradual changes on lipid metabolism disorders under menopausal conditions and the characteristics and mechanisms of compound Er-xian Decoction's regulatory effects. The study complied with the procedures established by the Animal Experiment Ethics Committee of the Institute of Materia Medica, Chinese Academy of Medical Sciences and passed the animal experiment ethics examine (No. 00000918).

Objective To evaluate the clinical efficacy of recombinat human brain natriuretic peptide (rhBNP) in the treatment of acute myocardial infarction (AMI) with heart failure in aged patients. Methods Totally 63 elderly patients with AMI and heart failure were randomly divided into therapy (29 cases) and control (34 cases) groups.Besides routine treatment,the therapy group received rhBNP in continuous intravenous infusion, while control group was treated with nitroglycerin.Both drugs were administered for 3-5 days.The dyspnea remission rates after treatment were recorded.At the same time,heart rates and blood oxygen saturation,left ventricular ejection fraction (LVEF) and left ventricular end diastolic volume (LVDD),serum interleukin 6 (IL-6) and high sensitivity C reactive protein (hsCRP) were recorded before and after treatment. Results The total effective rate after the treatment was 79.3 ％ (23/29) in therapy group and 64.7％ (22/34) in control group(P =0.017).The dyspnea remission rate was better in therapy group than in control group (P＜0.05).The heart rate,blood oxygen saturation,LVEF,hsCPR and IL-6 in therapy group were [(120± 11) times/min,(78 ± 6) ％,(28 ± 32) ％,(25.78 ± 2.44) mg/L,(40.74 ± 5.43) μg/L]before treatment,and after treatment [ ( 89 ± 9) times/min,( 97 ± 6 ) ％,(43 ±± 20) ％,( 12.78 ± 2.54 )mg/L,(28.45±2.34) μg/L] (all P＜0.05).The above indexes in control group were [(117±8)times/min,(80±8) ％,(29±31)％,(21.44±1.33) mg/L,(41.87±5.46) μg/L] before treatment,and after treatment[(109± 10) times/min,(34±18) ％,(43±20) ％,(17.63± 1.62) mg/L,(36.56±3.02) μg/L].The heart rate and the levels of IL-6 and hsCPR were reduced,blood oxygen saturation and LVEF were increased in therapy group than those in control group. Conclusions rhBNP is efficient in the treatment of elderly AMI with heart failure.

Objective To examine the epidemiology of kidney stone in Pudong New Area ofShanghai and analyze its risk factors. Methods 12 565 residents with the age above 16 years weresurveyed. All subjects needed to answer a questionnaire concerning their sex,age,geographic loca tions,occupation,education status and family history of renal calculi,etc. Ultrasound examinationwas used to diagnose the kidney stone. Results The average prevalence of kidney stone was 3.15%(396/12565),4. 05%(247/6096)in the men and 2.30%(149/6469) in the women,respectively (P<0. 05). The prevalence increased significantly with age of men,whereas the prevalence was highest forwomen aged 50-59. The prevalence between city and rural was not significantly different before age60 (2.58% vs 2. 62%,P>0. 05),whereas the prevalence were significantly different after age 60(6.28% vs 3.36%,P<0.05). The prevalence of subjects with a family history of renal calculi washigher than that without family history (32.02% vs 2.06%,P<0. 01). The prevalence in manage ment staff and vehicle drivers were the highest. Conclusions The prevalence of kidney stone in Pud ong New Area of Shanghai was lower than that in south of China. The relative risk increased in sub jects of aged men,women aged 50 59,with family history of renal calculi,management staff and ve hicle drivers. An understanding of the epidemiology particularly the interactions among different fac tors,may help lead to approach that reduce the risk of stone formation.

Objective To investigate the prevalence and distribution of pre-diabetes and diabetes mellitus in Han population aged over 60 years in Urumqi. Methods The physical examination and 75 g oral glucose tolerance test (OGTT) were performed in 2210 people, including 1231 elderly people aged over 60 years (old age group) and 951 people aged 40-59 years (middle age group). The diagnosis of diabetes mellitus was established according to WHO criteria in 1999. Results In Han ethnic people, the prevalence rates of diabetes mellitus and pre-diabetes were 32.2% and 29.0% respectively in old age group, and were significantly higher than in middle age group ( 12.3% and 20.9%,x2= 192.62, P＜0.05). The prevalence rates of impaired glucose tolerance (IGT) were higher in old age group than in middle age people (21.6% vs. 13.9%, x2 = 20.97, P＜0.05), but there was no significant difference in the prevalence rate of impaired fasting glucose (IFG) between the two groups. The prevalence rate of metabolism syndrome (MS) was higher in old age group than in middle age group (52.2% vs. 33.7%, x2 =73.77, P＜0.05). The multivariable analysis showed that hypertriglyceridemia, hypertension, family history of diabetes mellitus were risk factors for development of diabetes mellitus in elderly Han population (x2 =44.34, P＜0.05). Conclusions The prevalence rates of diabetes and pre-diabetes are considerably high in the current state. It should be strengthened to prevent and treat diabetes mellitus and pre-diabetes in Urumqi Han population,especially in residents aged over 60 years.

Objective To investigate the effects of quetiapine and risperidone in the treatment of behavior and psychiatric symptom of dementia(BPSD).Methods 56 cases of Alzheimer's disease and vascular dementia pa- tients were all met for the classification and diagnostic criteria for mental illness in China(CCMD-3)and randomly divided into two groups(27 in quetiapine group,29 in risperidone group),experimental dosage were 0.05～0.3g/d and 1～2mg/d,respectively.The treatment lasted for 8 weeks.Results The total efficiency of quetiapine was 66.67% and that of risperidone was 65.5%,and the statistical difference was significant.As for the adverse effects, there was no significant difference,but incidence of EPS in quetiapine group was less than that of risperidone group. Conclusion Quetiapine can be widely administrated in clinic application as the high efficacy of control BPSD with low minor adverse effect.

Metastasis is the essential character of biological behaviors in malignancies,which is also the main reason for the death of patients with tumor. So it is very important to research the metastasis for the pre-vention and treatment of carcinomas. Rectal cancer is one of the most common gastrointestinal cancer,and its prognosis is bad. lymphatic metastasis is one important factor in the determination of colon cancer' s progno-sis. More than 50% patients are found lymphatic metastasis when taking operation. The ralationship of lym-phatic metastasis and prognosis is more important than the original tumor's invasiving. So it is meaningful to study the mechanism of tumor metastasis, and to provide a scientific approach to the prediction of tumor me-tastasis, the precise assessment of prognosis and the treatment of tumor metastasis.

Objective To investigate the diagnosis and treatment of anticoagulation complication,heparin-induced thrombocytopenia (HIT),induced by low-molecular-weight heparin (LMWH) after joint replacement.Methods Retrospectively analyzed the clinical manifestations,treatment and prognosis of 4 patients after total knee arthroplasty (TKA) suffered from HIT induced by LMWH.Results The morbidity rate of HIT induced by LMWH was 0.3％(4/1376).Platelets were found less than 70 × 109/L after 4-9 d,minimum to 16 × 109/L.Different level of cardiorespiratory distress and lower extremity deep venous thrombosis all appeared.Once diagnosed,patients were immediately stopped using LMWH and replaced with argatroban,fondaparinux or rivaroxaban and warfarin.Deep vein thrombosis gradually disappeared and cured in 3 patients after treatment.One patient suffered cerebral hemorrhage and multiple pulmonary embolism,received craniotomy hematoma removal and decompressive craniectomy.But the patient didn't wake up after 1-month treatment,became a vegetative one.Conclusions HIT is rare but dangerous,which can result in deep vein thrombosis,pulmonary embolism,cerebral hemorrhage and other serious consequences.Early diagnosis and timely treatment can reduce the rate of disability and mortality.