Objective To investigate the prenatal diagnosis and prenatal genetic conselling of pseudomosaic trisomy 20. Methods One case of pseudomosaic trisomy 20 was analyzed and relative literatures were reviewed. Results A 31-year-old gravid 1, para 0 woman underwent amniocentesis at 18 weeks of gestation due to high risk of trisomy 21 during maternal serum screening in September, 2012. Interphase fluorescence in situ hybridization (FISH) of amniocytes with probes GLP13/GLP21/CSP18/CSPX/CSPY showed a normal result, while cytogenetic analysis of cultured amniocytes revealed a karyotype of 47,XY,+20[7]/46,XY[9]. The level of trisomy in the cultured amniocytes was 7/16. Cordocentesis revealed a karyotype of 46,XY in cultured cord blood cells. Interphase FISH analysis was performed using the probes D20Z1 (20p11.1-q11.1) and D20S1157/20QTEL14 (20 per/qter). Each probe showed two signals in all uncultured amniocytes. The prenatal ultrasound findings were unremarkable. The mosaicism was considered to be pseudomosaicism. After genetic counseling, the parents selected to continue the pregnancy. A healthy male baby was delivered at 39 weeks of gestation. Postnatal cytogenetic analysis revealed a karyotype of 46,XY in peripheral blood lymphocytes. Interphase FISH analysis of the uncultured buccal cast-off cells using the probes D20Z1 and D20S1157/20QTEL14 showed normal results in 100%cells. There was no phenotypic abnormality at the age of seven months. Conclusions When mosaic trisomy 20 is identified in amniocytes, further evaluation and genetic counseling are required. Interphase FISH of the uncultured amniocytes with a chromosome-specific probe is a useful tool for confirmation of the prenatal diagnosis of mosaicism. Genetic analysis of multiple tissues is required postnatally.

Objective To confirm the vancomycin loaded gelatin/β-TCP composite porous scaffolds could be used as sustained-release system,and investigate its efficiency of eliminating infections and repairing bone defects for the treatment of infected bone defects in rabbit.Methods The biodegradable gelatin sponge containing different contents (0,10％,30％,50％) of β-tricalcium phosphate ceramic (β-TCP) was prepared for the controlled-release of vancomycin and labeled with G-0 TCP,G-10 TCP,G-30 TCP and G-50 TCP respectively.Examinations of scanning electron microscopy,porosity analyses and mechanical test were performed.The K-B method was used to investigate the controlled release of vancomycin.Chronic Methicillin-resistant Staphylococcus aureus osteomyelitis models of rabbit were established.After thorough debridement,the infected bone defects were treated in four different groups:blank control group,G-0 TCP group,G-10 TCP group,and G-30 TCP group.At 4 and 8 weeks after implantation,X-ray and histological examinations were carried out to investigate the efficiency of eliminating infections and repairing bone defects.Results The prepared gelatin/β-TCP scaffold exhibited a homogeneously interconnected-3-D porous structure.And the β-TCP granules were localized evenly on the walls of the composite scaffold.There were no significant differences in the pore size of different scaffolds.However,the β-TCP granules can improve the interconnection.The porosity exhibited an obvious increase in G-10 TCP and G-30 TCP composite scaffolds compared with G-0 TCP scaffold.In contrast,too high content of β-TCP granules decreased the porosity.And the porosity exhibited an obvious reduction in the G-50 TCP composite scaffold.The compressive modulus of the vancomycin loaded scaffolds increased with the increase of the β-TCP amount.The scaffold G-0 TCP exhibited the longest duration of vancomycin release and the duration reached 8 weeks.With the increased content of β-TCP granules,the release duration shortened obviously.Compared with the G-50 TCP composite scaffold,the G-10 TCP and G-30 TCP composite scaffolds revealed a better controlled release of the drugs,and the total amount of the drugs was released within 7 weeks.However,the total amount of vancomycin released from the G-50 TCP composite scaffold lasted for 3 weeks.In the treatment of chronic MRSA osteomyelitis of rabbits,the G-30 TCP composite scaffold showed a better performance in the eliminating infections and bone defects repair.At 8 weeks after implantation,signs of osteomyelitis,including osteolysis,development of periosteal reactions,and sequestral bone formation were observed in the animals of blank control group.Signs of infection were absent in other treatment group.In the group treated with G-30 TCP composite scaffold,the bonedefects were repaired completely at 8 weeks after implantation.However,in the groups treated with G-0 TCP and G-10 TCP composite scaffold,the bone defects were not repaired.Conclusion The composite scaffolds could achieve local therapeutic drug levels over an extended duration.And the gelatin with 30％ β-TCP granules composite scaffold had optimal porosity,interconnection,mechanical properties and controlled release performances.It exhibited good performances in infection control and bone defect repair in the chronic MRSA osteomyelitis model.

ObjectiveTo observe the effect of irbesartan and triptolide combination on the level of urine protein in patients with diabetic nephropathy at high altitude area.MethodsFifty patients with diabetic nephropathy (24-hour urine protein excretion over 1.0 g and serum creatinine level below 265.2 μmol/L) at high altitude area were randomly divided into two groups,the control group were treated with irbesartan 150 mg/d for three months,and the treatment group received irbesartan 150 mg/d combined with triptolide 40 mg/d for three months.24-hour urine protein concentration,arterial pressure,liver function and renal function were measured before and after the treatment.Results After three months' treatment,the levels of 24-hour urine protein and arterial pressure were significantly lower in both control and treatment group (P ＜ 0.01 ).Twenty-four hour urine protein in treatment group were reduced from ( 8.34 ± 1.29) g before treatment to (6.42 ± 0.95 ) g after treatment ( t =5.994,P ＜ 0.001 ).Twenty four-hour urine protein in control group were reduced from (8.57 ± 0.53 )g before treatment to (7.10 ± 0.79 )g after treatment( t =7.730,P ＜ 0.001 ).Systolic pressure in treatment group were reduced from ( 152.04 ± 18.80)mm Hg before treatment to ( 131.24 ± 10.56)mm Hg after treatment(t =4.817,P ＜ 0.001 ) ; Diastolic pressure in treatment group was reduced from (93.60 ± 11.36 )mm Hg before treatment to ( 82.68 ± 7.30) mm Hg after treatment ( t =4.053,P ＜ 0.001 ).Systolic pressure in control group were reduced from ( 151.20 ± 10.17 ) mm Hg before treatment to ( 130.00 ± 10.10 ) mm Hg after treatment(t =7.396,P ＜ 0.001 );Diastolic pressure in treatment group were reduced from (92.76 ± 7.03 )mm Hg before treatment to (84.20 ± 7.56)mmHg after treatment (t =4.147,P ＜ 0.01 ).No statistic differences were observed in liver function and renal function before and after the treatment ( P ＞ 0.01 ).Conclusion Irbesartan and triptolide combination can reduce 24-hour urine protein to a certain extent and donot adversely affect liver function and renal function in patients with diabetic nephropathy at high altitude area

In order to investigate the effect of curcumin on proliferation and apoptosis of human pterygium fibroblasts (HPF) in culture and search for a new method to prevent the recurrence after pterygium surgery, HPF was incubated with 0-160 micromol/L curcumin for 24-96 h. The MTT method was used to assay the biologic activities of curcumin at different time points and different doses. The expression of proliferating cell nuclear antigen (PCNA) in each group was detected by immunohistochemistry. The cell cycle distribution was detected by flow cytometry (FCM). Administration of 20-80 micromol/L curcumin for 24-72 h could significantly inhibit HPF proliferation in a dose-and time-dependent manner (P<0.05). After treatment with curcumin at different concentrations of 20, 40, 80 and 160 micromol/L for 24 h, FCM revealed there was a significant sub-G1 peak at each concentration. The number of HPF in G0/G1 phase was increased, while in S phase, it was decreased (P<0.05). At the concentration of 20-80 micromol/L, curcumin, in a dose-dependent manner (P<0.05), could inhibit the expression of PCNA in HPF. It was suggested that curcumin could significantly inhibit the proliferation of HPF, make HPF arrest in G0/G1 phase and induce the apoptosis of HPF in a dose-and time-dependent manner.

Objective To explore the impacts of Danhong injection on physiological and biochemical indicators in malnourished mice at physiological low doses, evaluate its safety, and test the practical value of safety re-evaluation of Traditional Chinese Medicinal ( TCM) injections. Methods A total of 32 ICR mice during growth period were selected to set up corn deficient nutrition mice model. Mice were assigned into the normal control group (given 0. 9% saline), Danhong injection at low, medium and high dosages (0. 2, 0. 4 and 0. 6 mL) groups (n=8 in each group);Mice were administered with respective medications intraperitoneally for 7 consecutive days. Blood samples were taken and mice were executed on the 8th day. All 9 kinds of organ or tissue were obtained completely, to measure related physiological and serum biochemical parameters. The safety of Danhong injection was evaluated by using Benefit and Damage Index - General Score ( BDI-GS ) system. Results The Danhong injection showed only slight damages on major organs or tissues, the BDI values were all above 0. 85, and the GS values were all above 9. 0;BDI values for Danhong injection at different dosages were all above 1. 0 for spleen and pancreas, showing better replenishing and healthy effects, and the differences were of statistical significance compared with the normal control group (P<0. 05 or P<0. 01). Meanwhile, it exerted obviously hypoglycemic effect. Conclusion Danhong injection is of rather low risk under physiological dosages, and therefore is safe to use. The mal-nutrition model combined with the BDI-GS system may be developed as a novel approach for safety re-evaluation of TCM injection in clinic.

Aneurysmal subarachnoid hemorrhage accounted for 70% of subarachnoid hemorrhage. The high fatality and disability rate affected patients′ quality of life. Aneurysmal subarachnoid hemorrhage should be considered as a chronic cerebrovascular disease, and it is very important to take early intervention and strengthen the secondary prevention to the patients with risk factors for disease. This paper reviewed the research status on quality of life of patients with aneurysmal subarachnoid hemorrhage and its influencing factors, in order to provide a reference for neurological physicians.

Objective To evaluate the residual risk (i.e.failure risk in detecting aneuploidies abnormalities except for chromosome 13,18,21,X and Y) of cytogenetic abnormalities using interphase fluorescence in situ hybridization (FISH) for the second-trimester amniocytes.Methods The results of interphase FISH and conventional karyotyping of 2 837 consecutive amniotic fluid specimens were analyzed retrospectively.Probes for chromosomes 13,18,21,X and Y were used.The detection rate and residual risk for interphase FISH were calculated for the following three major clinical indications for prenatal diagnosis (advanced maternal age,abnormal maternal serum screening indicating an increased risk for trisomy 18 or trisomy 21,and ultrasound abnormalities).Results Consecutive interphase FISH and karyotyping of second-trimester amniocytes for prenatal diagnosis were performed from January 1,2010 to July 31,2013.Among the 2 837 cases,85 (3.0％) cases with abnormal karyotypes were found,including 73 cases of aneuploidies involving chromosome 13,18,21,X and Y,which were considered detectable by interphase FISH; 12 cases of chromosomal anomalies,other than aneuploidies of chromosome 13,18,21,X and Y,were diagnosed after karyotyping and were not detected by interphase FISH,including six cases of balanced rearrangements,five cases of imbalanced rearrangements,and one case of pseudomosaic of trisomy 20.Of these 12 chromosomal anomalies,three cases of imbalanced rearrangements involving chromosome 21 showed positive FISH results,and the other nine cases showed negative FISH results among which four case of hereditary balanced rearrangemerts and two cases of novel balanced rearrangements.The total detection rate for interphase FISH was 89.4％ (76/85),the misdiagnosis rate of chromosome abnormalities was 14.1％(12/85),and the residual risk was 0.43％ (12/2 761) following interphase FISH of the second-trimester amniocytes.Conclusions Interphase FISH is a useful adjunct to conventional karyotyping,but should not be regarded as a replacement for karyotyping as too many structural chromosomal abnormalities will be missed.Providing patients with a detection rate and residual risk during counselling may help them understand the advantages and limitations of interphase FISH in their prenatal diagnostic evaluation.

Objective To explore the surgical method of double flag-shaped flap to correct the shortened middle part of upper lip deformity of post burn.Methods From January 2009 to December 2013,9 cases of shortened middle part of upper lip post burn deformity were corrected by double flag-shaped flap,including 4 males and 5 females who aged from 18 to 37 years.They received the surgery from 1 to 3 years after burn.The main clinical manifestations included the upper lip eversion,too short middle part of upper lip,the destruction of the normal anatomy philtrum,philtrum column deformity and poor continuity vermilion border.Results The height of the middle of upper lip of 9 patients enrolled in the experimental treatment was lengthened by 4 to 6 mm after operation,which fundamentally corrected the shortened middle part of upper lip deformity of post burn.The patients were followed up for a period of 3 months to 2 years and received satisfactory results.The operative incisions of 9 cases were primary healing,with no flap blood supply disorders,wound infection,dehiscence and other complications.Conclusions Double flag-shaped flap of the upper lip at the nostrils bottom is a simple and good effective method to correct the shortened middle part of upper lip deformity of post burn.

Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea. Method Karyotype analysis of patients with primary amenorrhea was performed by using G-banding technique. Results Karyotype analysis of 468 patients with primary amenorrhea revealed that 255 patients (54. 49% ) had normal female karyotypes and 213 patients (45.51%) had abnormal karyotypes, including 143 patients with abnormal X chromosome, 4 patients with mosaic X -Y chromosome, 57 patients with 46, XY karyotype, 8 patients with abnormal autosome and one patient with Xautosome translocation. 75.52% primary amenorrhea patients with short stature had abnormal X chromosome, and all primary amenorrhea patients with deletion or break-up of Xp11. 1 - 11.4 and Xp21 - 22 were short statures. Conclusion One of the main reasons of primary amenorrhea was chromosome abnormity,especial heterosome abnormity. Karyotype analysis should be used to detect primary amenorrhea patients in regular. There might be relationship between height improvement and the abnormity of Xp11. 1 - 11.4 and Xp21 - 22.