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.

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.

OBJECTIVE:To observe the clinical efficacy and safety of prucalopride in the treatment of functional constipation (FC). METHODS:In prospective self-controlled study,87 female patients with FC were selected and given prucalopride 2 mg,1 time per day. The total course was four weeks. The defecate frequency,stool property and constipation symptom grade were ob-served before and after treatment. Related adverse drug reaction were observed during treatment. RESULTS:During the period of treatment,the defecate frequency was gradually increased,the stool property was gradually improved,and the constipation symp-tom grade of the patients was also improved. The difference had statistical significance before and after treatment(P<0.01). No sig-nificant adverse drug reaction was found during the study. CONCLUSIONS:Prucalopride is a safe and effective treatment for pa-tients with FC.

Objective Biochemistry course,a professional basic course of medical students,is a challenging course,for which the traditional classroom teaching mode is not suitable,for there are many deficiencies in traditional classroom teaching,so new teaching methods need to be explored to improve the quality of teaching and learning efficiency.Method 301 students from 6 natural classes of adult medical education were selected as the object of study and were divided into the experimental group(150) and control group(151).The traditional teaching mode was adopted in the control group,while in the experimental group,the double-track teaching methods were adopted such as diagram method,the method of using body language,humor teaching method,to stimulate students' interest in scientific research and innovation.At the end of the course,students were asked to conduct online teaching evaluation while teachers were asked to conduct mutual evaluation.Examination paper analysis software was used to evaluate the examination paper.Test results were analyzed by using SPSS 15 Statistical Software for data processing.Results:mean ± standard deviation (~ ± s) ; comparison was made between groups in t test.The difference was statistically significant(P＜0.05).Result The evaluation results of students and colleagues assessment show that 93.7％ of the students and 90.9％ of colleagues think that the experimental group uses the double-track teaching method is more popular than in the control group.At the end of the experiment,the control group grades is (66 ± 25),while the experimental group grades is (83 ± 22) ; t value is 6.2612; P value is 0.000.Conclusion Compared with traditional teaching method double-track teaching method has obvious advantages in teaching.From the result,double-track teaching enables students willing to think and have an active participation and exploration,which has significantly stimulated their learning interest and improved their performance,thus achieving good results.

Acromegaly is a rare clinical endocrine disorder related to systematic complications such as cardiovascular,respiratory and metabolic disorders which determine its prognosis.Hypertension is the main complication resulting in the increased frequency of morbidity.The mechanism of hypertension in acromegaly is still no real consensus.In this review,we examine the prevalence and danger of hypertension in acromegalic patients and discuss the clinical and experimental mechanisms on the cardiovascular system in order to define the possible pathogenetic factors involved in the development and/or maintenance of high arterial blood pressure in acromegaly.The modern object of acromegalic treatment is normalization of morbidity and the treatment of pituitary tumor involve surgery,medication and radiation.Besides,blood pressure control is also demanded.The lowering of blood pressure observed in a proportion of hypertensive acromegalics,and the normalization of serum GH and IGF-1 level is of great importance.

Objective:To observe clinical therapeutic effect of fasudil hydrochloride in patients with chronic heart failure (CHF).Methods: A total of 134 CHF cases were selected from our department.According to random number table, they were randomly and equally divided into routine treatment group and fasudil group, both groups were treated for three months.Left ventricular ejection fraction (LVEF), left ventricular end-diastolic dimension (LVEDd), left ventricular end-systolic dimension (LVESd), levels of brain natriuretic peptide (BNP), endothelin (ET)-1 and atrial natriuretic peptide (ANP) were compared between two groups before and after treatment.Results: Compared with fasudil group before treatment and routine treatment group after treatment, there were significant reductions in LVEDd [(58.20±8.44) mm, (58.22±10.21)mm vs.(51.24±7.37)mm], LVESd [(47.52±6.51) mm, (47.56±6.54)mm vs.(41.24±5.33)mm], levels of BNP [(381.35±62.48) μg/L, (377.82±61.46) μg/L vs.(294.52±51.33) μg/L], ET-1 [(81.93±13.53) μg/L, (81.32±12.63) μg/L vs.(68.44±11.42) μg/L] and ANP [(215.33±39.72) μg/L, (210.51±36.17) μg/L vs.(172.26±27.54) μg/L], and significant rise in LVEF [(29.69±4.08)%, (29.94±4.25)% vs.(37.47±5.26)%] in fasudil group after three-month treatment, P<0.01 all.Total effective rate of fasudil group was significantly higher than that of routine treatment group (94.0% vs.80.6%, P=0.019).There was no significant difference in incidence rate of adverse reactions between two groups, P>0.05.Conclusion:Fasudil hydrochloride can significantly reduce levels of BNP, ET-1 and ANP, delay ventricular remodeling and improve cardiac function in CHF patients.The therapeutic effect is significant and safety is good.

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 investigate the influence of self-harmony in visiting first grade female college students on admission adaptability and mental health to provide the theoretical and practical basis for preventing the mental problems and college mental health education work.Methods A total of 354 first grade female college students making the appointment for psychological consultation were selected as the research subjects and measured with the Self Consistency and Congruence Scale(SCCS),Symptom Checklist 90 (SCL-90) and Chinese College Student Adaptation Scale(CCSAS).Results The visiting first grade female college students had the psychological problems such as obvious social anxiety and accompanying with anxiety,depression and other the negative emotions,and unreasonable expectations of self-experience,starchiness and rigidity of self-harmony existed.The various factors of self-harmony and total score in the first grade female college students had different degrees of significant correlation with the various factors of admission adaptability and mental health(P<0.05);the disharmony between self and experience had a significantly positive predictive effect on the visiting first grade female college students′ mental health(P<0.05),but which had a significantly negative predictive effect on the admission adaptation(P<0.05).The admission adaptation had an incomplete mediating effect between self experience disharmony and mental health.Conclusion Self-harmony promotion contributes to improve female college students′ admission adaptability and mental health level.

Adolescent ; Child ; Child, Preschool ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Leukemia, Myeloid ; surgery ; Male ; Treatment Outcome

Objective To explore the different effects on the bleeding after the surgery of minimally invasive intracranial haematoma with drainage method.Methods The cases with minimally haematoma invasive operation were divided into A and B group.Group A simply used the liquefaction agent for blood clots( urokinase mixed with hyaluronidase),without washing step,and Group B used saline water to wash repeatedly and then use liquefaction agent to divert.Results The hematoma clearance rate of A group equal to that of B Group,while the rate of re-bleeding was ( 3.8 ％ ) obviously lower than than of B Group ( 22.7％ ) ( x2 =4.594,P ＜ 0.05 ).Condusion For many cases who have experienced the minimally invasive intracranial operation,the simple use of liquefaction agent can divert haematoma,and the risky rate of re-bleeding was obviously lowered.