Tetrasomy 18p Case Report.

BACKGROUND: Tetrasomy 18p is a rare disorder. It is known to affect about 250 families worldwide. Tetrasomy 18p is also the most common type of isochromosome. Here we report a de novo tetrasomy 18p. METHODS: The copy number variation of the patient was detected by microarray. Whether the abnormal gene was inherited from the parents was detected by karyotype analysis. Then the source of the chromosome was located by fluorescence in situ hybridization. Finally, we used MLPA technology to validate the results of patient testing. RESULTS: Microarray detection found that patients with 18p11.32p11.21 had duplication, with a copy number of four, which was tetrasomy 18 syndrome. The karyotype results showed 48,XY,+2mar?. Chromosome 18 telomere probe FISH experimental results: 48,XY,+i(18)(p10),+mar.ish. MLPA results showed that the number of chromosome 18 short arm copies is increased. Karyotype analysis results of his mother were 47,XX,+mar. Microarray results showed normal. Karyotype results of his father were normal. CONCLUSIONS: This case is de novo case, the patient's marker chromosome may be inherited from his mother, which does not rule out the influence of his mother's marker chromosome on his isochromosome 18.

Study on sleep disturbances of preschool children in Haikou City and its influencing factors / 中国学校卫生

Objective@#To explore current status of sleep disturbances and its influencing factors in preschool children in Haikou city, and to provide a reference for improving chidlren sleeping quality by taking effective measures.@*Methods@#Layered random cluster sampling method was used to select 1 200 preschool children from kindergartens in Haikou city in 2018. Sleep status questionnaire was used to investigate children’s sleep disorders and analyze the influencing factors.@*Results@#The detection rate of sleep disturbances was 50.00%, the rates in each group were 50.90% for boys, 48.87% for girls(χ2=0.49, P>0.05), and 48.45% for 3 years old group, 50.33% for 4 years old group, 50.55% for 5 years old group, and 49.55% for 6 years old group(χ2=0.24, P=0.97). The total daily sleep time of children was(10.53±1.05)h, and the duration of continuous sleep at night was(8.69±0.78)h, the length of sleep during the day was(1.84±0.67)h, sleep time decreased with the increase of age(F=7.52, 3.04, 7.88, P<0.05). The univariateand multivariate Logistic regression showed that, asthma(OR=2.65), frequent cold(OR=1.67), carpet at home(OR=1.40), poor appetite(OR=1.18), changing caregivers(OR=1.25), inconsistent rearing ideas(OR=1.42), parents falling asleep late (OR=1.39) and mothers with sleep problems (OR=1.73) were the risk factors for sleep problems, children and parents sleeping separately(OR=0.75), children’s sleeping rule (OR=0.32) were the protection factors(P<0.05).@*Conclusion@#It is necessary to do a good job in the sleep management of preschool children and reduce the detection rate of sleep problems from many aspects, such as family rearing environment, health knowledge of caregivers, parents undefined sleep habits, children undefined sleeping style and so on.

Effects of emergency cervical cerclage on pregnancy outcome: a retrospective study of 158 cases.

The aim of this study was to evaluate the effectiveness and safety of emergency cervical cerclage in women with advanced cervical dilatation and bulging of fetal membranes. The study included 158 women who underwent emergency cervical cerclage because of cervix dilatation and protruding membranes in mid-trimester at Sun Yat-sen Memorial Hospital of Sun Yat-sen University. Pregnancy outcomes and pregnancy outcome related to clinical features were analyzed retrospectively. Analysis revealed that the placement of emergency cerclage led to the delivery of live infants with a success rate of 82.28%. The mean interval between cerclage and delivery was 52.16.±26.62 days, with a mean gestation at delivery of 30.3±4.7 weeks and a mean birth weight of 1934.69±570.37 g. No severe maternal complications such as maternal death, hematosepsis, and hysterorrhexis occurred after the operation. Two women (1.25%) had laceration of the cervix, 1 woman (0.61%) suffered pulmonary edema, and 2 women (1.25%) developed deep vein thrombosis (DVT). There were significant correlations between the pregnancy outcome and risk factors, including any presenting symptoms, cervical dilatation, postoperative white blood cell count, and C-reactive protein (CRP) value. No significant difference was found in women with good vs. poor outcome in terms of maternal age and obstetric histories. Emergency cervical cerclage is effective in prolonging pregnancy and improving neonatal outcome in women with cervical incompetence. It should be considered a viable option for women with a dilated cervix in mid-trimester.

Effects of low molecular weight heparin and heparin-binding epidermal growth factor on human trophoblast in first trimester.

OBJECTIVE: To evaluate the effects of low molecular weight heparin (LMWH) and heparin-binding epidermal growth factor (HB-EGF) on the biological function of human trophoblast in first trimester. DESIGN: Control experiment. SETTING: Two academic-based reproductive centers. PATIENT(S): The first trimester human placentas (gestational age, 5-10 weeks) from patients who underwent electively induced abortions. INTERVENTION(S): Cultured trophoblast treated with LMWH or LMWH and HB-EGF. MAIN OUTCOME MEASURE(S): The biological function (proliferation, invasion, and differentiation) of trophoblast and the interaction between LMWH and HB-EGF on trophoblast in vitro. RESULT(S): 1) At a dose of 0.25 IU/mL-2.5 IU/mL LMWH promoted trophoblast proliferation, enhanced their invasion, and increased hCG secretion. The LMWH had little effect or the opposite effect at other concentrations. These differences were statistically significant. 2) Combined use of LMWH and HB-EGF significantly promoted proliferation and invasion, but there was no difference in hCG secretion compared with solo LMWH or solo HB-EGF. CONCLUSION(S): The LMWH exerts a cytoprotective effect by regulating trophoblast proliferation, invasion, and differentiation. The HB-EGF is an important factor in the effects of LMWH on trophoblast function.

Antiproliferative activity of the total saponin of Solanum lyratum Thunb in Hela cells by inducing apoptosis.

Total saponin of Solanum lyratum Thunb (TSSLT), a species of natural biologically active substances isolated from Solanum lyratum Thunb, possesses various bioactivities. It has been proposed that the induction of apoptosis may be the basis of its antitumor activity. However, the molecular mechanism underlying the total saponin-induced apoptotic process remains unknown. In the present study, we describe the anti-proliferative effect of TSSLT on human cervical cancer cells (Hela). The TSSLT induced apoptosis of Hela in a time-dependent manner with an IC50 for cell viability of 6 microg/ml. The TSSLT-induced cell death was characterized by changes in cell morphology, DNA fragmentation, activation of caspase-like activities, poly (ADP-ribose) polymerase (PARP) cleavage and release of cytochrome c (cyt c) into cytosol. TSSLT activated various caspases such as caspase-3, -8, and -9 (like) activities but not caspase-1 like activity. The cell death was completely prevented by the pan caspase inhibitor benzyloxy carbonyl-Val-Ala-Asp- fluoromethyl-ketone (Z-VAD-FMK). More than 80% cell survival was observed in the presence of a caspase-3 inhibitor. In addition, treatment with TSSLT induced the increase of Bax:Bcl-2 ratio in Hela cells. These results suggest that the induction of apoptosis by TSSLT involves multiple pathways antigen including death receptor and mitochondrial pathway and strongly suggest that the mitochondrial pathway was mediated by low expression of Bcl-2 and upregulation of Bax, release of cyt c and subsequent activation of caspase-3 followed by down stream events leading to apoptotic cell death.

[Clinical experience of using oxytocin antagonist atosiban in the rescue therapy of preterm labour].

OBJECTIVE: To investigate the effectiveness of oxytocin antagonist atosiban in the alternative rescue therapy of preterm labor. METHODS: Alternative tocolysis atosiban was given as rescue therapy to 35 women, who had received ritodrine or magnesium sulphate but failed, due to either progression of labour or intolerable adverse events. Atosiban was administered for up to 48 hours. Efficacy and tolerability were assessed based on the proportion of women who did not deliver and did not need alternative tocolytic therapy at 48 hours and 7 days after therapy initiation. The numbers of maternal adverse events and neonatal morbidity were also assessed. RESULTS: Efficacy and tolerability at 48 hours and 7 days after atosiban initiation were 77% (27/35) and 60% (21/35). One woman presented drug-related side effects with mild nausea and vomiting. Thirty-four women have delivered and one bigemina (28 weeks) is being followed-up. In 34 women, 11 delivered before 28 gestational weeks, 17 delivered after 28 gestational weeks, 3 delivered after 34 weeks and 3 had term delivery. Pregnancies were prolonged by 4 hours to 14(+2) weeks. There were nine neonatal deaths, with gestational ages less than 28 weeks at delivery. CONCLUSION: Oxytocin antagonist atosiban could be given as alternative rescue therapy if therapy with ritodrine or magnesium sulphate fails in the treatment of preterm labor, and it is safe and effective.

[Expression of aquaporins 1, 3, 8, 9 mRNA in human fetal membranes].

OBJECTIVE: To investigate the expression of aquaporin (AQP)-1, 3, 8, 9 in human fetal membrane and their role in the human amniotic fluid circulation. METHODS: RT-PCR was employed for detection of the expressions of AQP-1, 3, 8, 9 mRNA in human amnion and chorion from 20 women with normal term pregnancy. RESULTS: AQP-1, 3, 8, 9 mRNA expression was detected in both human amnion and chorion, and no significant difference was found in their expression levels or between the amnion and chorion (P>0.05). CONCLUSION: AQP-1, 3, 8, 9 can be associated with intramembranous transport and volume regulation of amniotic fluid.

[Inhibition of human low-density lipoprotein oxidation by salvianolic acid-A].

AIM: Oxidized low-density lipoprotein (LDL) is involved in the development of atherosclerosis. Oxidative modulation of serum LDL is related to oxygen free radicals. Antioxidants have beneficial effects on oxidative modulation of LDL and development of atherosclerosis. Salvia miltriorhiza (Danshen) preparations have been widely used in the treatment of cardio-cerebral vascular diseases in China. Salvianolic acid A (Sal-A), one of the components of Salvia miltriorhiza, was shown to have strong antioxidative activity. The aim of this investigation was to evaluate the effect of Sal-A on human LDL oxidative modulation mediated by copper ions. METHODS: Oxidation of human LDL was performed in pH 7.4 phosphate-buffered saline with 10 mumol.L-1 CuSO4 at 37 degrees C water for 20 h. The content of malondialdehyde (MDA), lipofuscin and vitamin E in LDL as well as the rate of electrophoretic mobility (REM) of LDL were measured. The generation of free radicals during LDL oxidation was detected by low level-chemiluminescence (LL-CL). The chelation of Cu2+ by Sal-A was detected by UV-spectrum scanning. RESULTS: Sal-A (10(-6) to 10(-4) mol.L-1) was shown to markedly reduce the production of MDA and lipofuscin as well as the consumption of vitamin E during LDL oxidation. Sal-A (10(-4) mol.L-1) was also shown to inhibit the increase of REM of LDL caused by oxidative modification. In addition, the spectrum of LL-CL showed that Sal-A (10(-6) to 10(-5) mol.L-1) decreased the generation of free radicals during LDL oxidation in a dose dependent manner. The differential UV-spectrum of Sal-A in the presence of Cu2+ indicated that Sal-A could chelate copper ions. CONCLUSION: Sal-A has inhibitory effect on Cu2+ mediated human LDL oxidation through chelating Cu2+ and scavenging free radicals.