Mucopolysaccharidosis type Ⅱ is a rare single gene inherited disorder. In the earlier studies, more attention was paid to the molecular analysis of the hot spots of the mutations. With the detection of more and more novel mutations,more studies are trying to analyze the effect on splicing of different types of mutations and the genotype-phenotype correlations. This review will introduce the progress on molecular genetics, the gene mutation,analysis of the female patients and the genotype-phenotype correlations. With the study of these progress,it suggested that more attention should be paid to the possibility of gene-pseudogen recombinations, trying to study the effect on splicing from the cDNA level, which will benefit the investigation of the genotype-phenotype correlations.

AIM: To study the efficacy and safety of Ultra Q- YAG vitreolysis for vitreous floaters.
METHODS: Retrospective case series study. From September 2014 to May 2015 in Beijing Aier - Intech Eye Hospital, 263 cases (340 eyes) with vitreous floaters were involved. All patients underwent visual acuity, intraocular pressure, slit lamp, mydriatic fundus, B ultrasonic examination, and recorded the form of a vitreous opacity excluded pathological fundus lesions. All the patients were divided into two groups: Group A (<30 years old) 78 cases (82 eyes); the morphology of vitreous opacity were dot, filiform and mesh. Group B ( > 45 years old), 185 cases (258 eyes), the morphology of vitreous opacity was Weiss ring, translucent flocculent clouds or dense fibrous membrane. Patients in 30 - 45 years old were eliminated because of the untypical opacity factor. The treatment was done by the same physician. Vision changes was analyzed before and after the treatment.
RESULTS: Questionnaire survey was done. According to the scores of the questionnaires, patients were divided into 3 groups: no improvement ( 1 - 2 points), partial improvement (3-5 points), significant improvement (6-10 points ). At 1mo after treatment, Group A: no improvement in 9 eyes (11. 0%), partial improvement in 57 eyes (69. 5%) and significant improvement in 16 eyes (19. 5%); Group B: no improvement in 0 eyes, partial improvement in 23 eyes ( 8. 9%) and significant improvement in 235 eyes (91. 1%); all the patients had no complications.
CONCLUSION: The treatment with YAG vitreolysis for vitreous floaters is safe and effective, especially for the patients more than 45 years old whose vitreous floaters caused by posterior vitreous detachment.

Objective:To evaluate the efficacy and safety of dexamethasone intravitreal implant (Ozurdex) in treating the refractory macular edema caused by retinal vein occlusion (RVO).Methods:An observational case series study was conducted.Twenty-one eyes of 21 patients diagnosed as refractory macular edema secondary to RVO and treated with Ozurdex implant in Beijing Aier-Intech Eye Hospital from March 2016 to September 2019, who was with a course lasting longer than 3 months and received at least 2 times of anti-VEGF treatments, had recurrent macular edema and no visual improvement or even deteriorated, were included.Best corrected visual acuity (BCVA) was examined using standard visual chart and was converted to logarithm of the minimal angle of resolution (LogMAR) units and intraocular pressure (IOP) was examined.Optical coherence tomography (OCT) was used to measure central retinal thickness (CRT) in all eyes before and at 1, 2, 3 and 6 months after intravitreal injection of Ozurdex.The changes of BCVA, IOP and CRT before and after Ozurdex injection were observed and analyzed.During the 6-month follow-up, re-injection of Ozurdex or ranibizumab was adopted among those with macular edema recurrence or poor efficacy according to the subjects' conditions.Ocular adverse effects and potential systemic complications were observed.This study followed the Declaration of Helsinki and the study protocol was approved by an Ecthics Committee of Beijing Aier-Intech Eye Hospital (No.BJAIER2020IRB01).Results:The mean CRT at 1, 2, 3, 6 months after Ozurdex injection was (295.76±49.19), (280.33±39.44), (321.29±73.46), (300.29±75.10)μm, respectively, which were significantly decreased in comparison with (458.52±174.61)μm at baseline (all at P<0.05). There was no significant difference in mean BCVA at different time points before and after Ozurdex injection ( F=1.975, P>0.05). During the follow-up, 10 eyes had macular edema recurrence at 2 to 6 months after first Ozurdex injection, with an average of (4.1±1.5) months.Among them, 8 eyes received second Ozurdex injection, and CRT was significantly reduced and BCVA was significantly improved at 6 months after the second Ozurdex injection in comparison with those at recurrence ( t=5.254, P=0.001; t=4.277, P=0.004). The IOP was significantly elevated at 2 months after first Ozurdex injection in comparison with that at baseline ( P=0.01). Ocular hypertension (IOP≥25 mmHg) was oberserved in 3 (14.3%) eyes during the follow-up period but were well controlled after local application of eye drops.No vitreous hemorrhage, retinal detachment, endophthalmitis or other serious adverse effects or systemic complications were observed. Conclusions:One dose of intravitreal Ozurdex injection can significantly improve the structure and function of macula in refractory macular edema caused by RVO for 4 to 6 months and maintain the baseline visual acuity.Second administration of Ozurdex is still effective for recurrent RVO macular edema.Transitional IOP elevation is the main adverse event.

By using the model of ischemia-reperfusion injury in the isolated working rat heart,the change of free amino acid concentrations in myocardium and the effect of taurine on the heart were investegated. It was found that concentrations of 17 free amino acids in myocardium, except Cys,decreased,and that 20mM taurine was able to ameliorate the ischemia-reperfusion injury of the heart ;e. g. , the improvement of recovery of cardiac mechanical functions, the decrease in the leakage of LDHand CK from myocardium,in the accumulation of lipid peroxides and calcium,and in the loss of free amino acids in myocardium,as well as the decrease in the occurence rate of ventricular arrhythmias during the reperfusion phase. So, it may be suggested that exogenous taurine has some protective effects against the myocardial is-chemia-reperfuaion injury.

Complexity science is a new type of scientific research method, and the combination of complexity science, life science, and medicine is still in the initial stage of exploration, and domestic medi-cal colleges do not offer correlative course currently. In order to broaden students' vision, transform their traditional thinking model, and prepare the future of multidisciplinary cooperation, medical colleges should open complexity science and medicine correlative course for senior undergraduate and graduate students. Course content should start by the famous fablebutterfly infect, followed by the introduction of chaos and fractal, self-organization and complex system theory concept, theoretical framework, and their application in the medical field The teaching material should refer to some popular science books, such as Mystery of the butterfly effect. The teaching method should draw lessons from metaphor.

Objective To investigate the expression of angiotensinⅡ (Ang Ⅱ ) and its type 1 receptor (AT1) in circulation, placenta and kidney of the rots preeclampsia. Methods Preedampsia rat model was developed by inhibitor of nitric oxide synthase (L-NAME). The systolic blood pressure (SBP), 24 h urine protein, hepatic and renal function were compared among the precelampsia group, the normal pregnant group and nonpregnant control group. The kidney tissue was observed by light microscopy. ELISA and radioimmunoassay were used to detect Ang Ⅱ in rat plasma and kidney homogenate respectively. Placental AT1 was measured by Westem blot. The level of kidney AT1 was evaluated by immunohistochemistry and Western blot. Results In preeclampsia rats, SBP and 24 h urine protein were significantly higher compared with control groups. Compared to normal pregnant group, plasma Ang Ⅱ of preeclampsia rats was much higher [(0.706±0.086) ng/L vs (0.540±0.085) ng/L, P＜0.05]; placental AT1 was increased by 46%(P＜ 0.05); kidney Ang Ⅱ was decreased signigicantly [(65.543±40.634) ng/g vs (165.543±33.078) ng/g, P＜0.05]. The expression of ATI in kidney of preeclampsia rats was reduced evidently,which was only 33% of normal pregnancy group and 59% of nonpregnant control greup,respeetively (P＜0.05). Conclusions In preeclampsia rat model, the circulating Ang Ⅱ is increased, the placental RAS isactivated, while the kidney BAS is suppressed. The underlying mechanism of proteinuria and kidney damage associated with this phenomenon in preeclampsia needs further research.

BACKGROUND: The brittleness and low flexural strength of ceramic material hinder, to a certain extent, its application in prosthodontic dentistry. Zirconia is enhanced in its flexural strength and toughness by the transformation toughening mechanism, which makes up for the brittleness of the traditional all-ceramic material.OBJECTIVE: To preliminarily explore a new machinable zirconia ceramic material and investigate sintering properties of dental machinable zirconia/La-monazite diphase ceramics with nano-zirconia/La-monazite diphase ceramics. DESIGN: By adjusting the composition and ratio of raw materials, and by adopting different preparation and sintering method, this study was intended to measure the related parameters and to explore the best preparation and sintering method. SETTING: Department of Prosthodontics, College of Stomatology Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University; Lab of Advanced Inorganic Material Technology, School of Material Science and Engineering, Shanghai University. MATERIALS: There were 3 mol yttria-containing tetragonal zirconia polycrystals (3Y-TZP) (size≤50 nm, purity 99.99%, Yixing Xinxing Zirconia-products Co., Ltd.) and La-monazite (purity 99.99%, Baotou Rare-earth Phosphate Institution). METHODS: Experiments were performed at the Department of Prosthodontics, College of Stomatology Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University from January 2004 to December 2006. The pilot experiments found that the zirconia with less than 15% of lanthanum phosphate was high in strength but poor in machinability while more than 20% of lanthanum phosphate was decreased significantly in its strength. Therefore, 15%, 18% and 20% (volume percentage) of la-monazite was added to 3Y-TZP. The green bodies of the three groups were compacted by cold isostatic pressing (200 MPa) and were sintered in air atmosphere at different temperatures: 1 560 ℃, 1 580 ℃ and 1 600 ℃ to make the ceramic samples. MAIN OUTCOME MEASURES: The volume density, porous rate (Archimedes method) and three-point bending strength (EZ-100 universal testing machine) were tested of all the ceramic samples.RESULTS: ①With the increase of sintering temperature, zirconia/La-monazite ceramics with 15%, 18% and 20% lanthanum phosphate was increased in its bulk and density. The density was the highest for 1 600 ℃ and the respective density of the three groups were 5.77 g/cm3, 5.42 g/cm3 and 5.39 g/cm3. The porous rate decreased with the increasing temperature and was the lowest at 1 600 ℃ (0.88%, 1.21%, 1.49% respectively). There was no significant difference in volume and density at different temperatures (P > 0.05). ②The flexure strength of diphase ceramic with 18% and 20% lanthanum phosphate increased with the temperature increasing to 1 580 ℃. At 1 580 ℃, the flexural strength reached the highest level, respectively (772.22±43.43) MPa, (216.03±25.20) MPa and (157.21±9.79) MPa. When the temperature reaches 1 600 ℃, the strength was decreased. CONCLUSION: Zirconia/La-monazite diphase ceramics can be prepared by adopting cold isostatic pressing (200 MPa) and sintering at 1 580 ℃.

BACKGROUND: As a convenient and useful physical activity measurement tool,pedometer is widely used in research and intervention about physical activity of population. OBJECTIVE: To assess validity and reliability of the pedometer in measuring daily physical activity. DESIGN,TIME AND SETTING: The experiment was performed at the Department of Kinesiology,Nanjing Institute of Physical Education and Sports from April to June 2007. PARTICIPANTS: Thirty college students,15 majoring in Kinesiology and 15 majoring in social and physical education,15 females and 15 males,with an average age of (20?1) years,were selected from Nanjing Institute of Physical Education and Sports. METHODS: Participants wore a Digi-Walker200 for one week to record results of pedometer measurement,and filled in Bouchard Physical Activity Diary every day to note activity in 24 hours and calculate energy consumption. All participants completed International Physical Activity Questionnaire including large and moderate intensity activity,walking and sitting in a week. MAIN OUTCOME MEASURES: Daily steps,energy expenditure,sedentary time,waking time,exercise time,and weekly physical activity condition. RESULTS: Step counts were positively correlated with daily energy expenditure,walking time,and exercise time,and negatively related with sedentary time. Step counts of different physical activity levels were significantly different: more step counts could better reflect physical activity levels. Furthermore,exercise or continuous walking (more than 15 minutes) could significantly increase step counts. Daily physical activity including 30-minute moderate intensity activity could achieve or exceed the target steps of 10 000. CONCLUSION: Pedometer provides a useful and objective indicator of daily step counts assessing daily physical activity,but it is difficult to reflect activity intensity and patterns.

Objective To dynamically observe photodamage of subcellular sites by use of laser scanning confocal microscopy (LSCM). Methods The samples were divided into four groups. Murine lung endothelial cells were subcultured and incubated with HMME for 24 hours. Then the cells were stained with rhodamine-123 for demonstration of mitochondria. LSCM was applied and organelle-cell fluorescence intensity ratio analysis was adopted to study the intracellular distribution of HMME. Then dynamic fluorescence images sequence of rhodamine-123 was collected. Results Rhodamine-123′s fluorescence images of cell sample with HMME was changed gradually during irradiation: the typical characteristic of mitochondria disappeared gradually with decreasing fluorescence intensity. The fluorescence of rhodamine-123 was diffused and distributed in nuclear, while rhodamine-123′s fluorescence images of cell sample without HMME was not changed. Conclusion Mitochondria and nucleus are photodamage sites by HMME-PDT; LSCM can be applied in dynamic observation of photodamage of subcelluar sites.

Purpose To investigate the effect of subcellular location of tumor BRCA1 on the sensitivity to ionizing radiation (IR) and PARP inhibitor.Methods siRNA of BRCA1 were first used to inhibit endougenous BRCA1 expression in MCF7 cells.Then,plasmids of pCMV-3xFlag-WT-BRCA1,pCMV-3xFlag-NES-BRCA1 and pCMV-3xFlag-NLS-BRCA1 were transfected in MCF7 cells.Immunofluorescence staining was used to detect BRCA1 subcellular location as well as the formation of Rad51 and γ-H2AX foci.Apoptotic cells were analyzed by flow cytometry,and colony formation assay was performed to evaluate the survival of cells.Results There were 47％ cells with nuclear BRCA1,23％ cells with cytoplasmic BRCA1 and 30％ cell with mixed nuclear and cytoplasmic BRCA1 expression in WT-BRCA1 transfected cell.There were 87％ cells with nuclear BRCA1 in NES-BRCA1 transfected cell,and 82％ cells with cytoplasmic BRCA1 in NLS-BRCA1 transfected cell.There were 87％,84％ and 13％ Rad51 foci positive cells at 2 hours after 4 Gy radiation treatment and 22％,25％ and 59％ γ-H2AX foci positive cells at 24 hours after 4Gy radiation treatment in WT-BRCA1,NES-BRCA1 mutant and NLS-BRCA1 mutant transfected cell respectively.ABT-888 and radiation treatment induced more apoptosis and fewer colonies in NLS-BRCA1 transfected cell than WT-BRCA1,NES-BRCA1 mutant transfected cell.Conclusion Subcellular location of BRCA1 might affect homologous recombination repair of DNA double strand breaks and can be used to predict sensitivity to IR and PARP inhibitor.