Cri-du-Chat Syndrome ; complications ; Humans ; Infant, Newborn ; Male ; XYY Karyotype

Hydrocortisone-induced yang-deficiency animal model has now become the generally accepted model of yang deficiency. However, assessing the most appropriate dose of hydrocortisone is a long-term challenge. For analyzing the modeling dose, the authors have built several kinds of yang-deficiency models induced by hydrocortisone at different doses, and analyzed the experimental data with various mathematical statistical methods. In order to discuss the effects of the modeling dose on the basis of previous research, the authors introduced Ridit analysis.

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Objective To explore the effects of astragalus polysaccharides(APS) on fetal hemoglobin(HbF) synthesis and cell proli-feration in K562 cells.Methods K562 cells were chosen as the cell model and cells treated with Na-butyrate(NaB) were taken as the po-sitive control.Western blot was applied to study the level of HbF expression in K562 cells and Trypan blue dye exclusion test was employed to analyze the influence of APS(150 mg/L,300 mg/L,450 mg/L)on K562 cells proliferation.Results 1.Dosage effect:when compared with untreated K562 cells,the HbF expression level increased to(1.56?0.03),(1.78?0.04) and(1.51?0.32) fold,respectively after 48 h treated with different concentrations of APS(150 mg/L,300 mg/L,450 mg/L,F=310.476 P=0).The best inducing concentration was 300 mg/L(P=0.005).2.Time course: HbF levels raised up gradually and the maximum was(2.88?0.27) fold over baseline(P=0) at 48-60 h in the presence of 300 mg/L APS.Then it went to decline.There was statistical significance of HbF expression between K562 cells treated with 300 mg/L APS or NaB [(2.88?0.27) folds,P=0].3.Effects of APS on K562 cells proliferation:the highest reduction of the cell proliferative was obtained in K562 cells cultured in the presence of 0.5 mmol/L NaB.As detected by Trypan blue exclusion met-hod,growth rate of cells stimulated by APS was affect in a dose dependent manner,and significantly higher than NaB.For example,the inhibition rate at 48 hours was 20.45% for 300 mg/L APS but 79.55% for 0.5 mmol/L NaB(P=0).Conclusion APS has ability to induce HbF synthesis in K562 cells and revealed less cells reduction than that of NaB.

OBJECTIVE:To investigate the regularity and characteristics of adverse drug reaction (ADR) in our hospital,to reduce the incidence of ADR,and to provide reference for clinical rational drug use. METHODS:1 731 ADR cases reported by our hospital during Jan. 2002 to Jul. 2015 to national ADR monitoring center through the network system were selected and analyzed statistically in respects of gender,age,related drugs,route of administration,causal relationship evaluation,reporting personnel status,ADR results and drug dosage form organs or systems involved in ADR and manifestation. RESULTS:There were a total of 1 731 ADR patients,among which 640 cases were male,and 1 091 cases were female;patients aged 41-60,≥61 were 676,568 cases;there were 86 cases of severe ADR and 1 645 cases of general ADR,249 cases of new ADR,include 19 cases of severe ADR;causal relationship evaluation of ADR was“impossible”(572 cases) and“very likely”(859 cases) as the vast majority of staff reporting;the most of reporters were doctors (1 290 cases,74.52%),followed by pharmacists (323 cases, 18.66%) and nurses (118 cases, 6.82%);ADR of most patients were improved and recovered. There were 16 routes of administration in ADR cases,among which intravenous infusion and oral administration were the main route of administration, accounting for 92.95%;ADR reports involved 32 kinds of dosage form,which mainly were injection,tablets and capsules, accounting for 86.76%. CONCLUSIONS:Great importance should be attached to ADR monitoring and reporting. We also should reduce the use of intravenous drugs,pay attention to the safety of drug use in elderly patients,promote clinical rational drug use, and ensure the safety of patients.

Objective To observe the effects of an enriched environment (EE) on cognitive functioning and the synaptic plasticity of mice modeling post-stroke cognitive impairment (PSCI) and explore the possible mechanisms involved.Methods Mice modeling PSCI and sham-operated mice were randomly divided into 3 groups:sham-operated mice in a standard environment (the Sham+SE group),PSCI mice in a standard environment (the PSCI+SE group) and PSCI mice in an enriched environment (the PSCI+EE group).The cognitive functioning of all of the mice was quantified using a Morris water maze and their hippocampal long-term potentiation (LTP) was recorded using an electrophysiological method.The level of synaptophysin was detected using Western blotting.Synaptic ultrastructure in the hippocampus was imaged using electron microscopy.Results Compared with the Sham +SE group,the PSCI+SE group showed significantly poorer water maze performance and failed induction of contralateral LTP.Their average level of synaptophysin was significantly lower,and significant adverse changes in the synaptic ultrastructure of the hippocampus were observed,including a decreased number of synapses.The average width of the synaptic cleft,postsynaptic density and the interface curvature of the synapses were all less desirable.All of the measurements of the PSCI+EE group improved significantly compared to those of the PSCI+SE group,but were still significantly poorer than those of the Sham+SE group.Conclusions An enhanced environment can improve the cognitive functioning of mice modelling PSCI.It may be that an EE can improve synaptic plasticity in the hippocampus contralateral to the stroke.

Objective To evaluate the effectiveness of treating glioma in combination of two kinds of drugs by comparing the size of tumors and the survival time of different groups in rat glioma after targeted blood‐brain barrier (BBB) disruption by focused ultrasound under MRI‐guide. Methods The stereotaxis instruments and the 10 μl gas‐tight syringes were used to inject gliosarcoma cells into the targeted area of the brain in 40 male Sprague‐Dawley rats. The glioma‐bearing rats models were established. Rats were divided into 4 groups to receive different treatment :(1) no treatment (control, n = 8), (2) IV Avastin (Avastin only, n =10), (3) IV liposomal doxorubicin (DOX only, n =10), (4) IV Avastin and liposomal doxorubicin (Avastin+DOX, n =10). The SonoVue microbubbles and DOX or Avastin were injected into the tail vein respectively on the 12th day after implantation. The tumor size was measured by MRI on immediacy, once a week after targeted BBB disruption by focused ultrasound, and the life span in rat glioma was recorded. Results The average survival time of different groups in rat glioma was as follows :no treatment(17 ± 4)d, Avastin(20 ± 4)d, DOX(25 ± 5)d, DOX+ Avastin(40 ± 5)d. The tumor size after post‐treatment of different groups in rat glioma was as follows :no treatment(5 7.0 ± 4 3.0)mm, Avastin(4 3.0 ± 2 5.0)mm, DOX(4 1.2 ± 3 1.0)mm, DOX + Avastin(2. 20 ± 1. 30)mm. There was significant increased in average survival time and decreased in tumor size after a combination treatment DOX+ Avastin compared with other groups( P < 0 0.1). Conclusions The microbubble blasting by MRI‐guided focused ultrasound enhances the local tissue permeability and promotes the drug delivery of chemotherapy and anti‐angiogenesis locally in glioma‐bearing rats. Especially, the combination of two kinds of drugs has a synergism efficacy that may reduce tumor growth and increase survival time significantly after BBB disruption.

Objective To evaluate the effectiveness of treating glioma in combination with drugs multiply by comparing the size of tumor and the survival time of different groups in rat glioma after targeted blood-brain barrier (BBB ) disruption by MRI-guided focused ultrasound.Methods The stereotaxis instruments and the 10 μl gas-tight syringes were used to inject gliosarcoma cells into the targeted area of the brain in 50 male Sprague-Dawley rats.The glioma-bearing rat model was established.Each rat received either:(1 )no treatment (control;n =8);(2)single liposomal doxorubicin (DOX;n = 10);(3)multiple DOX (n =10);(4)single Avastin (AVS)and DOX (n =10);(5)multiple AVS and DOX (n =10).The SonoVue microbubble ultrasonic contrast agent and DOX or AVS were injected into the tail vein respectively on day 12 after implantation.The tumor size was measured by MRI on pre-treatment,immediacy and once a week of post-treatment after targeted BBB disruption by focused ultrasound,and the life span in rat glioma was recorded.Results The mediam survival of different groups in rat glioma(The range of the life span 13-90 d):no treatment (7 d);single DOX (12 d);multiple DOX (1 5 d);single AVS + DOX (22 d), multiple AVS+ DOX (30 d).There was significant difference of the groups on mediam survival comparison (P < 0.01 ).The tumor growth pattern after post-treatment of different groups in rat glioma except control:single DOX was noticeable fast and multiple AVS+DOX was visibly delayed comparable to other groups,and finally the tumor size of multiple AVS + DOX even became small.Conclusions The microbubble blasting enhances the local tissue permeability and promotes the drug delivery of chemotherapy and anti-angiogenesis locally in glioma-bearing rats by MRI-guided focused ultrasound.Especially,the combination with drugs multiply has a synergism efficacy that may enhance the effectiveness of chemotherapy,reduce tumor growth,and even become small of the tumor size,and increase survival time significantly after BBB disruption.

Objective To investigate the perinatal outcome of fetus with increased nuchal translucency (NT) at first trimester.Methods The thickness of NT above 95th percentile of the fetuses with same crown-rump length (CRL) was set as the criteria of increased NT.The outcomes of fetuses with increased NT during early pregnancy from Jan.2008 to Dec.2009 in Guangzhou Women and Children's Medical Center were followed up.The information of ultrasound at second trimester,pregnant complications and delivery outcome were collected.All infants were followed up for 3 months after birth and were divided into four groups according to their different thickness of NT.The relationship between NT thickness and perinatal outcome were analyzed with single factor analysis of variance and multiple comparison method.Results Among the 178 cases we followed up,there were 2 spontaneous fetal losses and 19 terminations whose reasons were Down syndrome (n=6),severe a thalassemia (n =5),fetal malformations (n =7) and social factor (n =1).Among the 157newborns delivered,one was found with congenital heart disease.The rate of abnormal infants was 11.8％ (21/178) and the detection rate of abnormal infants was 9 5.2％ (20/21).Healthy living rate of fetus with NT thickness between 95th percentile and 2.9 mm was 96.1％ (122/127); 82.4％ (28/34) for those with NT thickness between 3.0 mm and 3.9 mm; and 35.3％ (6/17) when NT≥ 4.0 mm.Conclusions Increased NT might have close relationship with poor pregnant outcome.The thicker the NT,the lower the healthy living rate of the fetus.The pregnant outcome is very poor if NT≤4.0 mm.

Objective To investigate the role of directly constitutive activation of p38 mitogen-activated protein kinases(p38MAPKs)signaling in ?-globin gene expression and fetal hemoglobin(HbF)induction,and provide direct data for the relationship between phosphorylation of p38 and erythroid differentiation of human K562 erythroleukemia cells.Methods The human K562 erythroleukemia cells were transfected with pCDNA 3.1-MKK3(Glu)and pCDNA 3.1-MKK3(Ala)recombinant plasmids by lipofectamineTM 2000.Then,the stable cell lines overexpressing constitutively active p38 and constitutively inhibitive p38 activation were established by the addition of G418 to select single cell G418-resistant clones and identification with reverse transcriptase-polymerase chain reaction(RT-RCR)and Western blot assays,named K562-MKK3(Glu)and K562-MKK3(Ala)cells,respectively.Furthermore,the direct effects of constitutively active p38 on the ?-globin gene expression and HbF induction were analyzed by RT-PCR and benzidine staining,respectively.Results The results of RT-PCR and Western blot showed that there were no evident changes in the mRNA and protein levels of p38 for various cell models,but compared with K562,K562-vect,and K562-MKK3(Ala)cells,the phosphorylation of p38 and expression of ?-globin levels in K562-MKK3(Glu)cells were significantly up-regulated.The results of benzidine staining displayed that the mean percentages of positive cells stained by benzidine in K562,K562-vect,K562-MKK3(Ala),K562-MKK3(Glu)cells,and K562-MKK3(Glu)cells treated with SB203580 were(3.2?1.4)%,(3.7?1.2)%,(2.8?0.9)%,(32.6?5.3)%,and(7.8? 2.3)%(q = 7.56 P