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 improve the method to establish a rat model of vascular dementia and to better serve the experimental studies on vascular dementia.Methods We used the method of“repeatedly clipping the carotid artery com-bined with injection of sodium nitroprusside and with permanent unilateral carotid artery ligation” to prepare a rat model of vascular dementia.The drug piracetam was used to validate the established rat model in respect of the behavior and histopa-thology.Results Different from the reports of previous research, firstly, the results of this study suggested that injection dose of sodium nitroprusside should be 2.0 mg/kg, room temperature should be controlled at 28℃ during surgical opera-tion, and kept at 25℃postoperatively for 24 hours.Under these experimental conditions, the rats were stable and the death rate was reduced.Secondly,“repeatedly clipping carotid artery combined with permanent unilateral carotid artery ligation”could cut off about a third of cerebral blood supply, and causing chronic cerebral ischemia, which is seemingly more con-sistent with the pathogenesis of vascular dementia.Experimental results showed that compared with the control group, the navigation incubation period was extended and space search ability became worse in the model group, cell number was de-creased, with blurred cell contour and deeply stained cytoplasm, and cell nuclei were not clear in the hippocampal tissue. Conclusions Our findings indicate that the improved methodrepeatedly clipping the carotid artery combined with injec-tion of sodium nitroprusside and with permanent unilateral carotid artery ligationcan be used to efficiently establish a rat model of vascular dementia.The similar results of experiment using piracetam validate that this rat model can be used in vascular dementia-related experimental studies.

Objective Through analysed the questionnaire about postpartum contraception knowledge-attitude-practice (KAP) among obstetricians,to understand the postpartum contraceptive knowledge,idea,attitude and related factors among obstetricians.Methods From October 2013 toDecember 2013,209 obstetricians of 10 different levels of the hospital of Tianjin area had been enrolled in this study,and KAP questionnaire was investigated.Results The knowledge of postpartum contraception among obstetricians was seriously lack,the total correct rate was 34.8％,the lowest score was 5 points,the highest was 80 points,the average score was 34.8± 13.5,more than 60 points accounted for only 2.9％ (6/209).86.6％ (181/209) obstetricians have thought it necessary to carry out postpartum contraceptive propaganda during pregnancy,and 97.6％ (204/209) obstetricians have thought it necessary to develop postpartum contraception training.92.8％ (194/209) and 94.2％ (197/209) obstetricians always informed that pay attention to contraception before discharge and postpartum visit,specific methods were not discussed.Obstetricians obtained relevant progress of contraceptive knowledge mainly through the daily medical work (92.8％,194/209),hoped that approach postpartum contraception related knowlege through continuing education courses (77.5％,162/209),special lectures in academic conference (72.2％,151/209) and special training (67.5％,141/209).Conclusions (1) The postpartum contraception knowledge among obstetricians is seriously lack.(2) The obstetricians hold positive attitude towards the propaganda for postpartum contraceptive knowledge.(3) Postpartum contraception related education only provided before discharging and postpartum visit,and the content was simply inform that pay attention to contraception,specific methods are not discussed.(4) To explore the reason why postpartum contraception situation is not ideal,that's because insufficient attention and propaganda,obstetricians don't update the contraception knowledge,and be lack of knowledge on the efficient,long-acting reversible contraception methods,exaggerated the side effects and complications.

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.

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.

Angiolymphoid Hyperplasia with Eosinophilia ; pathology ; Forehead ; pathology ; Humans ; Male ; Middle Aged ; Parotid Gland ; pathology