Ocular albinism type 1 (OA1),the most form of the ocular albinism,is an X-linked disorder mainly characterized by a severe reduction of visual acuity,hypopigmentation of the retina,photophobia,strabismus and nystagmus. The OA1 gene is located on chromosome Xp22.32 and the coding sequence is divided into nine exons. The OA1 gene codes for a 404 amino acid protein thought to be a melanosomal transmembrane glycoprotein. The OA1 protein is similar to the G protein-coupled receptors,but it's exact function is not clear. There are many mutations and deletions of the OA1 gene have been found.

Objective:To evaluate the effect of remote lifestyle intervention on the management of weight and related indicators in the overweight and obese population.Methods:A total of 400 individuals with overweight or obesity who participated in remote lifestyle intervention in the Health Management Department of Shenzhen People′s Hospital from May 2015 to December 2018 were included as the remote intervention group, and 400 individuals with overweight and obesity who matched their age and gender were selected as the control group. Dietician established individual WeChat groups with the remote intervention group, and the WeChat platform was used to conduct remote lifestyle intervention for them, including setting weight control goals, giving timely feedback to the food log based on photos, providing exercise guidance and psychological support. The control group received personalized diet and exercise prescriptions, but did not receive remote intervention. After adjusting the data by propensity score matching method, univariate and multivariate logistic regression models were used to analyze the management effect of weight and related indicators in the two groups after one year.Results:After one year of intervention, effective data were obtained from a total of 755 cases (371 cases in the remote intervention group and 384 cases in the control group), and effective data were retained from 446 cases (223 cases in the remote intervention group and 223 cases in the control group) after bias matching. The body mass index (BMI), systolic blood pressure, fasting blood glucose, triglyceride, total cholesterol, low-density lipoprotein, and serum uric acid of the remote intervention group [(24.85±2.52) kg/m 2, (110.21±10.53) mmHg, (4.96±0.65) mmol/L, (1.25±0.82) mmol/L, (4.87±1.11) mmol/L, (2.88±0.74) mmol/L, and (306.01±95.66) mmol/L respectively] were significantly lower than that of the control group [(27.76±2.28) kg/m 2, (121.14±14.07) mmHg, (5.10±0.87) mmol/L, (1.54±0.83) mmol/L, (5.28±0.96) mmol/L, (3.13±0.80) mmol/L, (355.16±92.68) mmol/L respectively] (all P<0.05). After intervention, intervention was consistently being influencing factors when BMI was reduced by 4%―12%, ( P<0.05). The probability of a 12% reduction in BMI in the remote intervention group was 112.486 times higher than that in the control group (95% CI: 16.852-890.266). At the same time, the initial BMI was an influential factor for the restoration of normal BMI. For every 1 kg/m 2 decrease in the initial BMI, the probability of restoration of normal BMI was 4.76 times higher than that before the decrease (95% CI: 3.222-5.057). Conclusions:Remote lifestyle intervention has a certain effect on the management of weight and related indicators in the overweight and obese populations. It has significant effect on weight loss of overweight and mildly obese people, but has limited effect on moderate and severe obese people.

Objective To evaluate the complications and long-term efficacy of inside-out transobturator transvaginal tape ( TVT-O) for the treatment of stress urinary incontinence ( SUI) .Methods From January 2008 to December 2013,236 consecutive female patients (mean age 56 ±9 years,range 44-88 years)with the symptom of incontinence when abdominal pressure increasing (such as walking), underwent TVT-O operation.All these patients needed pads and were diagnosed with SUI by cough test and Marshall -bonny test before surgery , with the mean international consultation committee on incontinence questionnaire short form ( ICI-Q-SF) score of 15.6 ±3.9.Two grouping methods were used:the mid-term group including patients whose follow-up time was between 6 months and 3 years, the long-term group including patients whose follow-up time >3 years,the group of patients who underwent TVT-O only and the group of patients who underwent TVT-O plus pelvic floor repair at the same time . Their clinical and follow-up data , intraoperative and postoperative complications , subjective and objective effects were recorded and analyzed.Results Of these 236 patients,there were 1 case of bladder perforation (0.4%) and 1 case of intraoperative sling exposure to vagina ( 0.4%) .Postoperative complications included 36 ( 19.1%) groin/puncture point pain ,18 (9.5%) de novo frequency of micturition ,8 (4.2%) urinary retention /difficulty of urination.All the complications were relieved after symptomatic treatment or surgery except 2 cases of urinary retention/difficulty of urination.Their symptom kept existing after urethral dilatation and sling dissection and long-term intermittent self-catheterization was needed .One hundred and eighty-nine patients completed more than six months of follow-up, with mean follow-up time of ( 35.0 ±12.5 ) months.One hundred and sixteen (61.4%) cases was arranged to mid-term group and 73(38.6%) was arranged to long-term group.88.9%patients ( 168/189 ) were cured objectively and 9.5% patients ( 18/189 ) improved. There was also a significant subjective improvement ( ICI-Q-SF scores:15.6 ±3.9 preoperative versus 6.7 ± 2.3 postoperative,P<0.01).There was no significant difference of both objective and subjective efficacy between mid-term group and long-term group ( cured +improved rate 97.4% versus 95.9%;ICI-Q-SF scores 14.3 ±2.8 versus 16.7 ±3.4 preoperative ,5.8 ±1.2 versus 7.9 ±2.0 postoperative , P>0.05 ) . Patients who underwent TVT-O and those who underwent TVT-O +pelvic floor repair had no significant difference in efficacy (cured +improved rate 97.8%versus 100.0%,P>0.05).Conclusion TVT-O is a safe,effective and durable treatment for SUI , whether or not with concomitant procedure of pelvic floor repairment.

Objective To investigate the effects of informed consent on emotion and immunologic function in patients with laryngopharynx cancer.Methods Sixty patients with laryngopharynx cancer were divided into group A and group B by random digits table with 30 cases each group.In group A patients were informed consent,and in group B family were informed consent.The self-rating anxiety scale (SAS) and self-rating depression scale (SDS) scores,as well as cellular immunity function were measured before informed consent and 2 weeks after surgery.Results The SAS,SDS scores and levels of cellular immunity function between two groups,differences was no statistically significant (P ＞ 0.05).The SAS,SDS scores 2 weeks after surgery in group A were significantly less than those in group B [(43.17 ± 7.63) scores vs.(47.84 ± 8.46) scores,(37.43 ± 8.69) scores vs.(42.67 ± 9.82) scores,P ＜ 0.05].The CD3,CD4,NK cells 2 weeks after surgery in group A were significantly higher than those in group B (0.5762 ±0.0941 vs.0.5160 ± 0.0821,0.3832 ± 0.0751 vs.0.3140 ± 0.0561,0.1521 ± 0.0491 vs.0.1163 ± 0.0422,P ＜ 0.05),CD8 and CD4/CD8 between two groups differences was no statistically significant (P ＞ 0.05).Conclusion The informed consent for patients with laryngopharynx cancer may relieve emotional disorders and avoid immunologic function decreasing.

Objective To investigate the sleep quality of maintenance hemodialysis (MHD) patients and analyze its associated factors. Methods The convenience sample method was used to choose 424 MHD patients from 7 hospitals.A set of questionnaires were used in this investigation,including demographic data form,Pittsburgh sleep quality index (PSQI),restless legs syndrome (RLS),social support rate scale (SSRS),subjective global assessment (SGA),family APGAR index (APGAR) and family burden scale of disease (FBS). Results PSQI score of 395 MHD patients (93.2％) was ≥5.APGAR and social support total points were negatively correlated with sleep quality (r=-0.133,P=0.006; r=-0.105,P=0.031).Family burden total point was positively correlated with sleep quality (r=0.215,P=0.000).Nutrition (F=46.123,P=0.000),restless legs syndrome (F=9.392,P=0.000) and sleep apnea syndrome (F=5.645,P=0.001) were closely associated with sleep index scores. Conclusions Incidence of poor sleep quality in MHD patients of our study is quite high.Sleep quality of MHD patients is correlated with lots of factors,such as family concern,social support.

Objective To investigate the association between tumor necrosis factor ? (TNF ?) gene polymorphism and ankylosing spondylitis (AS).Methods Genomic DNA from 98 Chinese AS patients and 70 ethnically matched controls were typed for TNF(308) polymorphism by allele specific polymerase chain reaction (AS PCR).Results The TNF genotypes in AS patients were respectively TNF1 homozygote 37%,TNF2 homozygote 10% and TNF1 and TNF2 heterozygote 53%.While TNF genotypes in controls group were respectively TNF1 homozygote 67%,TNF2 homozygote 3% and TNF1 and TNF2 heterozygote 30%.Significant difference was found in the distribution of TNF 308 genotype between both groups ( ? 2=15 73, P

Objective To set up a simple and accurate method for the determination of saikosaponins in Bupleurum chinense DC. by UV-Visible Spectrophotometry. Methods The content of saikosaponins was determined by UV-Visible Spectrophotometry. The absorbency was measured at 536nm. Results The calibration curves was linear within 194~1940mg/L(r=0.9996). The average recovery was 97.35%,and the RSD was 1.02%(n=9). Conclusion The method was proved to be simple, precise and reproduciable. It can be used for the quantitative determination of B upleurum chinense DC.

d, suggesting that the mutation rate of SDHB gene in sporadic Chinese patients with pheochromocytoma might be around 3%.

BACKGROUND: Whether ceramic alloy can be reused after casting depends on its chemical composition, microstructure, castability, as well as mechanical property. However, the effects of recasting on the composition and microstructure of Ni-Cr ceramic alloys are poorly understood. OBJECTIVE: To investigate the effects of recasting on the composition and microstructure of Ni-Cr ceramic alloys. DESIGN, TIME AND SETTING: In vitro materials observation. The experiment was performed at the Department of Prosthodontics, Affiliated Stomatological Hospital, Fujian Medical University, Instrumentation Analysis and Measurement Center, Fuzhou University, from June to August 2007. MATERIALS: The Ni-Cr ceramic alloys were recast 6 times in argon protection to obtain testing sample with diameter of 30.0 mm, thickness of 1.0 mm and side length of 10.0 mm, thickness of 1.0 mm, namely generation I VI. Simultaneously, the sample produced by initial alloy was called generation 0. METHODS: The original alloy and each generation square plates were analyzed by X-ray fluorescence spectrometry (XRF) for qualitative and semi-quantitative analysis. The microstructure and the phase structure of original alloy and each generation castings which had been polished by buffing machine were observed and analyzed by metallographic microscope and X-ray diffractometer (XRD). MAIN OUTCOME MEASURES: Contents of chemical composition, shrinkage cavity, porosity and inclusion, and distribution of XRD patterns. RESULTS: The results of XRF indicated that there were no significant difference on the main composition (Ni, Cr, Mo, Al, Be) among the Ni-Cr ceramic alloys multiple recast 0-6 times in argon protection and accorded with the demands. The metallographic structure of Ni-Cr ceramic alloys were dendritic eutectic structure, but the size of dendritic crystal grain in the casting coarsening, shrinkage cavity, porosity and inclusion gradually increased, with the increase of multiple recast times. The phase structure of Ni-Cr ceramic alloys were Ni-base solid solution (face-centered cubic lattice structure) and the chromium was widely distributed in the nickel base. There were neither significant difference of phase structure nor the new phase structure appeared among the Ni-Cr ceramic alloys multiple recast 0-6 times. CONCLUSION: There is no significant difference of main composition and phase structure between original alloy and each generation castings in argon protection. With the increase of recast times, the size of dendritic crystal coarsening, shrinkage cavity, porosity and inclusion gradually increased.

ischemia reperfusion model .DADLE might have a protective effect on lung tissues of ALI in rats .