Objective To explore the correlation of single nucleotide polymorphism (SNP) with PTEN gene involving in mammalian target of rapamycin (mTOR) C1 signaling genes polymorphisms and autism in children.Methods A total of 97 cases with autism were enrolled from Mar.2011 to Dec.2012 in this study,who came from the child and adolescent out-patient department in Shanghai Mental Health Center of Shanghai Jiaotong University School of Medicine.Single SNP association and haplotype association analysis were performed using the family-based association test and Haploview software.Results 1.In a family-based association test,two SNPs showed significant association with autism(rs17107001 G:Z =2.982,P =0.003 ; rs2299941 G:Z =2.524,P =0.012).After the correction of false discovery rate,they all remained significant.2.Haplotype association analysis showed significant transmission disequilibrium in haplotype T-T-G and C-T-A generated from rs532678-rs17562384-rs2299941 (block2) in LD Block,and haplotype T-T-G was over transmitted to offspring(Z =-2.986,P =0.003) while haplotype C-T-A was the opposite (Z =-2.197,P =0.028).Conclusion The SNPs of PTEN genes might have a correlation with autism in children.

BACKGROUND: Diabetic retinopathy is a commonly chronic-vascular complication in a course of diabetes mellitus (DM), and its relation with apoptosis and changes of ion level needs to be proved.OBJECTIVE: To observe apoptosis and changes of Na+ and K+ contents in retinal tissue of DM rats.DESIGN: Randomized controlled study.SETTING: Department of Ophthalmology, Liuzhou Municipal People's Hospital.MATERIALS: The experiment was completed at the Department of Ophthalmology, Liuzhou Municipal People's Hospital. A total of forty adult male Wistar rats, aged 20 months, weighing 320-350 g, were provided by Animal Center of Medical College Affiliated to Sun Yat-sen University.METHODS: Forth Wistar rats were randomly divided into control group and experimental group with 20 in each group. Streptozotocin was used to induce DM in the experimental group. Apoptosis and changes of Na+ and K+ contents in retinal tissue were measured on the 4th, 6th, 12th and 16th weeks after DM onset. Rats in the control group were injected only with the same volume of citrate buffer solution. Then, correlations on the aspect of fasting blood glucose (FBG), hemoglobin glycosylation (HbAlc), Na+ and K+ contents and DM course were analyzed between the two groups.MAIN OUTCOME MEASURES: ① Na+ and K+ contents; ② FBG concentra tion and HbAlc level; ③ changes of apoptosis; ④ correlations among markers.RESULTS: Apoptosis could be detected in retinal tissue in the experimental group at 4 weeks after DM onset, and with course elongating, level of apoptosis was aggravated gradually. Na+ concentration was increased in retinal tissue, but K+ concentration was decreased (P ＜ 0.01 or 0.05). Levels of apoptosis in retinal tissue in the experimental group were positive correlation with FBG concentration, HbAlc level, Na+ content and DM course (r=7.584, 7.844, 7.369, 6.246; P ＜ 0.01); however, they were negative correlation with K+ content in retinal tissue (r=7.658, P ＜ 0.01).CONCLUSION: There are apoptosis and abnormal Na+ and K+ contents in retinal tissue of DM rats. Moreover, these changes may be one of pathological bases of diabetic retinopathy.

Objective Nutrition becomes a focus to professionals as an important factor during the development of pressure ulcers.However, there is no evidence for the effectiveness of eternal nutrition support for pressure ulcer prevention .This research aimed to evaluate the effectiveness of eternal nutrition support for pressure ulcer prevention and provide evidence for patients with the risk of pressure ulcer . Methods Key words such as pressure ulcer prevention,eternal nutritional supportwere used to search information in the Cochrane Library , JBI Database of Systematic Reviews , MEDLINE, Web of Science, EMbase, CBMdisc, CNKI and Wanfang Database to collect randomized controlled trials (RCTs).The quality of RCTs was critically appraised and data were extracted by 3 reviewers independently .Meta-analyses were conducted for the eligible RCTs using RevMan 5.0 software, and Stata12.0 software was applied to detect bias or sensitivity analysis to determine the source of heterogeneity if necessary . Results 7 RCTs were includ-ed, among which 1 RCT was excluded by sensitivity analysis .6 RCTs ( n=1553 ) were finally included for meta analysis ( n=728 in trail group, n=825 in control group), and all the patients were given oral nutrition support for 7days to 26 weeks.The results showed that the ulcer incidence in the intervention group reduced by 16%in comparison to the control group (P=0.006).The protein and energy intake in intervention group were higher than those in control group , and the length of stay in hospital was shortened by 16 days. No significant difference was found in the albumin values . Conclusion The enteric nutrition support can reduce the incidence of pressure ulcer obviously with the highest level of evidence , IA .

Objective To discuss the causes and the prevention measures of the complications occurred after interventional therapy for different type of Budd-Chiari syndrome (BCS). Methods Based on the type of BCS, the corresponding interventional management was adopted in 204 patients with BCS. The interventional procedures included PTA and stent placement of inferior vena cava (IVC), percutaneous transhepatic recanalization and dilation (PTRD) of hepatic vein, percutaneous transjugular or transinferior vena cava recanalization, dilation and stent placement of hepatic vein and transjugular intrahepatic portal-systemic stenting shunt (TIPSS). Results The successful rate of interventional therapy was 95.5% (21 / 22) for type Ia, 81.8% (9 / 11) for type Ib, 97.3% (109 / 112) for type IIa, 92.9% (13 / 14) for type IIb, 88.9% (8 / 9) for type Ⅲa, 100% (2 / 2) type Ⅲb, 92% (23 / 25) for type Ⅳa and 88.9% (8 / 9) for type Ⅳb BCS. The main complications occurred during or after the operation included acute cardiac insufficiency (n = 2), pulmonary arterial embolization (n = 4), disseminated intravascular coagulation (n = 1), extravasation of contrast medium (n = 3), arrhythmia (n = 2), and cardiac tamponade (n = 1). Conclusion Interventional therapy is simple, safe and effective for the treatment of BCS, but its indications should be strictly considered and all kinds of effective prevention measures should be taken to avoid or to reduce the possible complications.

BACKGROUND:In vitro experiments have demonstrated that the biodegradable mesh-like microporous baloon made of macromolecular materials has obvious advantage of anti-leakage, which is capable of maintaining calcium homeostasis, has no inhibitory effects on cel growth and on microscopic interdigitation formation between new bone and bone cement. OBJECTIVE:To evaluate the therapeutic effects of biodegradable mesh-like microporous baloon with calcium bone cement on vertebral fractures based on animal experiments. METHODS:The fracture model was established in 48 New Zealand rabbits, in which a bone dril was introduced after successful puncture at sites near left low extremity of the femur. These rabbit models were randomized into two groups: experimental group with calcium phosphate bone cement and biodegradable mesh-like microporous baloon and control group only with calcium phosphate bone cement. Clinical parameters such as blood cel count, biochemistry, and CT/X ray were examined at 1, 3 and 6 months after implantation of the baloon and bone cement. After that, the specimens were fixed for pathological analysis. RESULTS AND CONCLUSION:The operation was performed under general anesthesia with no eventful infusion of bone cement. The expansion of baloon was satisfactory without definite extravasation of bone cement in the experimental group. In the control group, cement diffusion was found with pulmonary embolism occurring in three New Zealand rabbits. No statistical significance for blood cel counts and biochemistry was found between pre- and postoperation or between two groups. The materials in the two groups had favorable biocompatibility with injured bones without obvious immunological response. In the experimental group, the baloon wal was thinned and partial bone tissues grew into the cement at 1 month; at 3 months, a large amount of bone tissues grew into the cement and cement volume diminished; at 6 months, the baloon disappeared and only a smal amount of cement left in the bone tissues. In the control group, it was difficult to determine when the cement degraded. The biodegradable mesh-like microporous baloon combined with calcium bone cement is superior to bone cement alone in the management of vertebral fractures.

[Abatract] In order to improve the result of clinical practice for undergraduate students of clinical medicine, combined with the professional characteristics of hematology and teaching syllabus, Hematology Department in the First Affiliated Hospital of Dalian Medical University developed practi-cal teaching content and tried using a variety of teaching methods and teaching means such as multi-media aided teaching, case teaching and simulation teaching method and so on. Besides, multiple station examination was established; teaching feedback and supervision were strengthened. The prac-tice proved that the reform measures were conducive to the cultivation of medical students' practical skills and clinical thinking, which helped to speed up the transformation from the students to the role of doctors.

Objective To investigate the characteristics of transperineal pelvic ultrasounds among middlelate gestational women and study the the correlation between middle-late gestation and stress urinary incontinence.Methods Seventy-four pregnant women at a gestation of 14-40 weeks were divided into the incontinence group (n =34) and the non-incontinence group (n =40).The bladder neck angle,the bladder neck rotation angle,the bladder neck movement degrees,the posterior urethra-vesical angle,and the urethral rotation angle at both inactivity and maximum Valslva activity were evaluated by pelvic ultrasound.The acquired data were treated and analyzed with t-test and correlation analysis with with P ＜ 0.05 considered statistically significant.Results Compared with the non-incontinence group,the bladder neck rotation angle,BND,bladder neck angle and posterior urethra-vesical angle during the maximum Valsalva activity in the incontinence group were all significantly larger (P ＜ 0.05).A moderate correlation between urethral rotation angle and gestation week in the incontinence was observed (P ＜ 0.05).Conclusion The changes of the supportive structures around bladder urethreal tissues in middle-late gestation women are obvious.The urethral rotation angle becomes larger with the gestation going on.

BACKGROUND:Percutaneous vertebroplasty and percutaneous kyphoplasty have become the mainstream clinical methods for the treatment of vertebral compression fractures. However, both of them have several shortcomings such as bone cement leakage, spinal stenosis, nerve compression, pulmonary embolism and other issues. OBJECTIVE:To verify the possibility of bone filing mesh container prepared by polyethylene terephthalate for the treatment of vertebral compression fractures. METHODS:The biological properties of bone filing mesh container were examined according to GB/T16886. After sample aging test, the tensile properties of the aged samples and the fresh prepared samples were compared. The expansion and bone cement leakage were evaluated by injecting bone cement into the bone filing mesh container and measuring the pressure. The initial strength and stiffness of the fresh pig vertebrae with calcium phosphate cement injection or with bone filing mesh container filed with calcium phosphate cement were compared. The in vivo bone tissue growth was periodicaly observed after the lumbar vertebra of 4-month-old pigs was implanted with the bone filing mesh container that was then ful of bone cement. RESULTS AND CONCLUSION: The bone filing mesh container had good biocompatibility. Bone filing mesh containers after 2-year storage had the same tensile strength to the fresh bone filing mesh containers. At ambient conditions, after bone cement injection, bone filing mesh containers could be expanded at 5-10 atm and therefore could play the role of uplift; at 7-10 atm, bone cement could leak out from the bone filing mesh container and enter into the interspace between surrounding bone tissues, thus playing the role of adhesion and fixation. The vertebrae after bone cement injection with or without bone filing mesh containers had the same initial strength and stiffness and exhibited bigger initial strength and stiffness than untreated vertebrae. Thein vivo animal experiments proved that bone filing mesh container had no obvious effect on the vertebrae. These findings indicate that the bone filing mesh container can be used to restore the height and strength of the fractured vertebrae. Moreover, it may eliminate bone cement leakage and therefore increase the surgery safety.

Objective To devolope a method for extracting DNA from dried blood spots (DBS)and optimizing the operating procedure,which could be applied to clinical gene diagnosis of thalassemia.And the cross contamination of DBS punching and the storage stability of DBS were studied.Methods A total of 1 50 blood specimens were collected,and DBS were prepared.Circles (3 mm in diameter)were punched in the DBS,and eluted with lysis buffer.The eluting method and operating procedure were opti-mized.Genomic DNA extracted from the elution solution by magnetic beads,and were performed thalassemia gene test.Finally jud-ging whether the results of DBS and whole blood were consistent.Two methods of thalassemia gene test were used in DBS and the compatibility of DBS processing method was verified.Judging whether there was cross contamination of DBS punching by the thalassemia gene test results of blank hole which were punched in the blank filter paper between thalassemia positive DBS.The DBS storage stability in thalassemia gene test was verified by detecting the DBS which were dry stored at room temperature for 6 and 9 months.Results 5 circles (3 mm in diameter)DBS were vibrating eluted at 55 ℃ for 1 hour,the DNA concentration extracted from the elution solution was 10-20 ng/μL,which was dissolved in 50 μL solution,and the DNA quality was good.The thalassemia gene test results of DBS and whole blood were the same,and the DBS results of two thalassemia gene test methods were the same too. The cross contamination of DBS punching was not detected in thalassemia gene test.The DBS which were dry stored at room tem-perature for 6 and 9 months could be stably performed thalassemia gene test.Conclusion DBS could be used to perform thalassemia gene test,which is accurate,convenient and stable.It is an ideal way for specimen referral of thalassemia gene test.

Objective To compare the effects of pure neurolysis or neuromuscular electrical stimulation combined with exercise therapy on brachial plexus palsy rehabilitation,and select an effective solution for the treatment of brachial plexus paralysis.Methods Eighty-six patients with neonatal brachial plexus paralysis,admitted to our hospital from July 2011 to July 2014,were randomly divided into control group (n=42) and observation group (n=44);patients in the control group were treated by simple neurolysis,and those in the observation group were given neuromuscular electrical stimulation therapy for joint movement.The clinical curative effects,scores of Mailett shoulder joint,Gilbert elbow joint and Raimondi hand joint,Gilbert deltoid muscle strength and electromyography examination,nerve conduction block and axon damage situation were compared between the two groups before and after treatment.Results (1) The clinical total effective rate of the observation group was 88.64％,which was significantly higher than that of the control group (66.67％,P＜0.05).(2) The scores of Mallett shoulder joint,Gilbert elbow joint and Raimondi hand joint of the two groups after treatment were significantly greater than those before treatment (P＜0.05);and the above scores in the observation group were significantly greater than those in the control group after treatment (P＜0.05).(3) The scores of triangular muscle of children from the two groups after treatment were significantly greater than those before treatment (P＜0.05),and those in the observation group after treatment were significantly greater than those in the control group (P＜0.05).(4) The M wave negative peak area EN showed no significant difference in the two groups before and after treatment (P＞0.05),but the EA and PA levels after treatment in the two groups were significantly higher than those before treatment (P＜0.05),and those in the observation group after treatment were significantly higher than those in the control group (P＜0.05);(5)The nerve conduction block and axon damage in the two groups after treatment were significantly less than those before treatment (P＜0.05),and those in the observation group after treatment were significantly less than those in the control group (P＜0.05).Conclusion The effect of neuromuscular electrical stimulation joint exercise therapy on neonatal brachial plexus paralysis rehabilitation is better than that of pure neurolysis.