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 investigate the relationship between abnormalities of maternal serum markers in Down syndrome screening in second trimester and adverse pregnancy outcome.Methods Totally,1935 pregnant women were screened for Down syndrome with maternal serum tri marker with time-resolved fluorescence assay,including alpha fetoprotein (AFP),free β-human chorionic gonadotropin (β-hCG) and unconjugated estriol (uE3),between 15 and 20+6 gestational weeks at Peking Union Hospital from January 1,2009 to January 31,2011,and were followed up till delivery.The relationship between incidence of adverse pregnancy outcomes and women with normal or abnormal levels of serum markers in Down syndrome screening was investigated.T-test or Chi-square test were applied for statistical comparison.Results (1) Among the 1935 pregnant women,normal levels of serum markers were found in 1255(normal group) and 680 were abnormal(abnormal group),in which 577 with only one abnormal serum marker,89 with two and 14 with three abnormal serum markers.According to the serum marker level,the 577 women with one abnormal serum marker were further divided into five groups,including high AFP group (n=17),low AFP group (n=114),high β-hCG group (n=242),low β-hCG group (n=139) and low uE3 group (n=65).The birth weight of infants in lower AFP group and the gestational age at delivery in low β-hCG group were greater than those in normal group [(61.3±9.1) kg vs (59.5±8.3) kg,(272.6±11.8) d vs (274.4±10.1) d,t=2.21 and 1.99,both P＜0.01].(2) The incidence of adverse pregnancy outcome in normal group was 42.8％(537/1255),while comparing with the abnormal group(43.7％,297/680),no statistical significance was shown (RR =1.02,P =0.71).While comparing with the normal group,the incidences of placenta previa [25.5％ (32/1255) vs 2/17,RR=4.61,P＜0.05] and abnormal placental morphology were higher in high AFP group [4.1％ (51/1255) vs 5/17,RR=7.24,P＜ 0.05],the incidence of gestational diabetes mellitus (GDM) was higher in low AFP group [8.1％ (101/1255) vs 14.4％(16/114),RR=1.74,P＜0.05],the incidence of placenta and membrane retention was higher in high β-hCG group [3.5％ (44/1255) vs 6.2％(15/242),RR=1.77,P＜0.05],the incidence of pre-eclampsia was higher in low β-hCG group [1.7％ (21/1255) vs 6.5％ (9/ 139),RR=3.87,P＜0.05].(3) There were 89 women with two abnormal serum markers.Comparing with the normal group,the incidences of small for gestional age (SGA) infants,oligohydramnios,abruptio placenta were higher in women with low AFP but high β-hCG [SGA infants:6.9％(2/29) vs 1.8％(22/1255),RR=3.94; oligohydramnios:20.7％(6/29) vs 6.4％(80/ 1255),RR=3.24; both P＜0.05],the incidences of oligohydramnios was higher in women with both low AFP and low uE3[3/14 vs 6.4％(80/1255),RR=3.36,P＜0.05],the incidence of premature birth and GDM were higher in women with both low β-hCG and low uE3 [premature birth:2/6 vs 4.3％(54/1255),RR=7.75; GDM:3/6 vs 8.0％ (101/1255),RR=6.21; both P＜0.05].(4) There were 14 women with three abnormal serum markers.The relationship between adverse outcome and abnormal serum markers did not show any statistical significance.Conclusions The abnormality of serum markers of Down syndrome screening is closely related to adverse pregnancy outcomes,and women with abnormal serum markers should be carefully monitored during pregnancy.

Objective To calculate the incidence of chromosomal abnormalities at second trimester in women who were 35 or older at their expected date of birth.Methods The amniocentesis and karyotyping results in Peking Union Medical College Hospital from January 1st,2001 to June 30th,2011 were retrospectively analyzed.The only indication for amniocentesis in these group of woman was advanced maternal age.A total of 6584 cases Were included in this study and were divided into two groups according to maternal age,ie.35-39 and ≥40 year old group.The incidences of fetal 47,+ 21,47,+ 18 and sex aneuploidies were calculated and compared between two groups by Chi-square test.Results Altogether,121 cases were diagnosed to be abnormal chromosome,and the overall incidence was 18.38‰ (121/6584).The abnormal karyotypes included 111 cases of aneuploidies (mosaicism included) and 10 cases of structural abnormalities.The aneuploidies included 59 cases of 47,+21 (8.96‰,59/6584),25 cases of 47,+18 (3.80‰,25/6584),2 cases of 47,+13 (0.30‰,2/6584) and 25 cases of sex aneuploidies (3.80‰,25/6584).Fetal 47,+21 was the most frequent chromosomal abnormality,accounting for 53.15％ (59/111) of all aneuploidies.The incidence of fetal 47,+21 was significantly higher in ≥40 year-old group than that of 35-39 year old group[13.99‰(16/1144) vs 7.90‰(43/5440),x2=3.937,P=0.047].There were no statistical differences of the incidences of fetal 47,+ 18 and sex aneuploidies between the two groups.Conclusions The main fetal chromosomal abnormalities in women aged 35 and older are the aneuploidies of chromosome 21,18,13 and sex chromosomes.The incidence of fetal 47,+21 is significantly increased in the women aged 40 years and older.So prenatal screening should be provided first to women at 35-39 years of age and amniocentesis should be the first choice of prenatal diagnosis for women over 40 years old.

Objective To evaluate the lung exposure dose-volume (DVH) parameters and other indicators of lung perfusion imaging before and after three-dimensional conformal or intensity modulated radiation therapy for lung cancer patients,and combined with clinical factors,to explore relationship with radiation pneumonitis occurred.Methods 18 patients were selected for data analysis.Lung perfusion scintigraphy was detected before and after three-dimensional conformal or intensity modulated radiation therapy for lung cancer.Lung perfusion changes were compared before and after irradiation.Evaluation of radiation pneumonitis was assessed by the Radiation Therapy Oncology Group (RTOG) acute radiation pneumonitis standard.After the CT and SPECT lung perfusion images were transferred to Varian,the Eclipse 3D treatment planning system,image fusion after dose curve projected onto the SPECT images,and the DVH was converted into a f-DVH diagram.Analysis of pulmonary perfusion imaging changes before and after radiotherapy combined with lung irradiation dose volume parameters and radiation pneumonitis.Results In the whole group,33.3 ％ (6/18) cases occurred more than 2 radiation pneumonitis.Before and after radiotherapy,the damage to the lung perfusion was more than 2 radiation pneumonitis incidence [62.5 ％ (5/8)],and impaired pulmonary perfusion improvement was 10.0 ％ (1/10).DVH parameters to V5 severe RP forecasted high accuracy.In curve for each patient,boundary values of V5,V10 and V20 were 53 ％,41％ and 27 ％.Before and after radiotherapy it was found that lung perfusion changes and the whole lung V5 portfolio were the strongest predictors for radiation pneumonitis after radiotherapy.Conclusion Pulmonary perfusion imaging in patients with lung cancer is able to reflect changes in the function of ipsilateral lung perfusion before and after radiotherapy.Changes in the ipsilateral lung perfusion detected before and after radiotherapy combined with V5 are expected to serve as indicators to predict radiation pneumonitis.

ObjectiveTo investigate the clinical features and pregnant outcomes of the pregnant women with congenital adrenal hyperplasia (CAH) 21-hydroxylase deficiency (21-OHD).MethodsThe clinical features,therapies,pregnant outcomes of the pregnant women with 21-OHD were retrospectively reviewed in Peking Union Medical College Hospital,from January 2005 to April 2011.ResultsThere were 8 pregnant womenwith 21-OHD including 5siinplevirilizing patientsand 3nonclassical 21-OHD women.Eightpatientswereacceptedprogestationalandprenatalcontinuallowerglucocorticoid treatment.During the gestational period,the dosage of glucocorticoid was adjusted in one pregnancy.The serum level of 17-alpha hydroxyprogesterone (17-OHP) were elevated after pregnancy [ (70 ± 38 ) versus (24 ±23) nmol/L,P ＜ 0.05].The fertility and offspring rate of 8 patients was 8/12,the fertility and offspring rate of patients who started treatment at preadolescence was significantly increased (4/5 versus 4/7).Four patients were accepted genital reconstructive surgery ( clitorectomy,clitoroplasty,vulvoplasty) before pregnancy.The incidence of GDM was 1/8.All patients selected caesarean at from 37 +6 gestation weeks to 39+6 gestation weeks.The average newborn birth weight was (3210 ± 447 ) g,and height was (48 ±2) cm of 8 neonates,none of them was CAH.Conclusions Medical and surgical therapy provides satisfactory fertility and pregnancy outcomes for women with 21-OHD.It is safe to pregnant women with 21-OHD and their fetus in continual lower glucocorticoid treatment.The dosage of glucocorticoid should be carefully adjusted during the pregnancy individually according to serum level of 17-OHP.

Humans ; MicroRNAs ; Non-alcoholic Fatty Liver Disease

After a description of the demand for medical information in grass-root PLA health units, the experiences of Medical Library of Chinese PLA in providing medical information service for grass-root PLA health units were summarized, and suggestions were proposed for medical library and information institutions to provide information service for them.

Objective To investigate the effect of hypothermia on the expression Toll-like receptor 2 (TLR2),myeloid differentiation factor 88(MyD88),nuclear factor-κBp65(NF-κBp65),plasminogen activator inhibitor-1(PAI-1)in the TLR2/MyD88 pathway in rats with acute lung injury(ALI)induced by lipopolysaccharide (LPS)inhalation. Methods Ninety male Sprague-Dawley(SD)rats were randomly divided into control group (n=18),hypothermia group(n=24),temperature controlled group(n=24),and temperature-uncontrolled group(n=24). The ALI model was reproduced by 0.5 mL/kg LPS intratracheal instillation,while only normal saline was instilled intratracheally for control group. Arterial blood was collected and physical cooling was started 1 hour after instillation. The body temperature was lowered to 32-34 ℃in hypothermia group and 36-37 ℃in temperature controlled group,and no intervention was used for temperature-uncontrolled group and control group. The arterial blood gas was determined in all the groups before and 1 hour after instillation of saline or LPS and 1,6, 12 hours after intervention. Rats were sacrificed respectively at 1,6 and 12 hours after temperature control therapy, the morphological changes in lung tissue were observed under light microscope. The protein expression of PAI-1 in bronchoalveolar lavage fluid(BALF)was determined by enzyme linked immunosorbent assay(ELISA). TLR2 mRNA and MyD88 mRNA transcriptional level were determined by reverse transcription-polymeras chain reaction (RT-PCR). NF-κBp65 protein level was determined by Western Blot. Results After instillation of LPS,the oxygenation index(PaO2/FiO2)of each group was decreased obviously,the damage of lung tissues was aggravating,the lung injury score was increased significantly,PAI-1 protein in BALF and the expressions of TLR2 mRNA,MyD88 mRNA, NF-κBp65 protein in lung tissues were increased obviously. Each index was improved by therapeutic Hypothermia, the effect of which was best in using a cooling period in the 1-6 hours,while might be benefit at 6-12 hours. Compared with temperature controlled group,PaO2/FiO2(mmHg,1 mmHg=0.133 kPa)at 1 hour and 6 hours of hypothermia group was improved(1 hour:402.49±38.61 vs. 324.36±28.93,6 hours:349.72±98.20 vs. 284.35±13.68, both P<0.01),the lung injury score at 1,6 and 12 hours were significantly decreased(1 hour:6.04±0.74 vs. 7.96±0.65,6 hours:9.09±0.80 vs. 13.13±1.02,12 hours:10.79±1.42 vs. 13.42±0.68,all P<0.01),the PAI-1 protein(ng/L)in BALF at 1,6 and 12 hours were significantly decreased(1 hour:121.36±4.62 vs. 197.74±9.42, 6 hours:230.53±10.76 vs. 294.06±16.60,12 hours:270.48±13.20 vs. 319.40±10.24,all P<0.01),TLR2 mRNA and MyD88 mRNA expressions(2-ΔΔCt)in the lung tissues at 1,6 and 12 hours were significantly decreased (TLR2 mRNA 1 hour:2.18±0.26 vs. 3.04±0.39,6 hours:4.09±0.29 vs. 4.90±0.35,12 hours:6.02±0.43 vs. 7.10±0.54;MyD88 mRNA 1 hour:2.25±0.41 vs. 3.04±0.30,6 hours:5.67±0.55 vs. 7.01±0.76,12 hours:7.14±0.60 vs. 8.87±0.54,all P<0.01),NF-κBp65 protein expression(A value)at 6 hours and 12 hours was significantly decreased(6 hours:0.31±0.08 vs. 0.53±0.12,12 hours:1.05±0.17 vs. 1.76±0.35,both P<0.01). There was no difference in each index between temperature controlled group and temperature-uncontrolled group. Conclusion Hypothermia can down-regulate the expression of TLR2 mRNA,MyD88 mRNA,NF-κBp65 protein and PAI-1 in the TLR2/MyD88 pathway to protect lung tissue of rats with ALI induced by LPS inhalation from injury.

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 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.