A longitudinal study on association between puberty development and thyroid function of school aged girls in Minhang District, Shanghai / 中国学校卫生

Objective@#To observe the association between puberty development and thyroid function among school-aged girls in Minhang District of Shanghai, in order to explore the effect of puberty development on thyroid function. @*Methods@#The study was based on a cohort of adolescent girls recruited in iodine-suitable areas of Minhang District, and the baseline and follow-up survey have been carried out from January to March 2019. The method of phased cluster sampling was used to select one junior high school in the east, south, north and middle of Minhang District, Shanghai, respectively. Finally, 464 new junior high school girls were included in the Cohort study for physical examination, and girls were followed up from January to March 2021. The Puberty Development Scale (PDS) was used to assess the stage of puberty. Serum thyroid stimulating hormone (TSH), free triiodothyronine (FT3), and free thyroxine (FT4) were determined for each participant. Thyroid homeostasis structure parameters (THSPs) was calculated. Changes of Thyroid hormones at baseline and follow-up were compared by Wilcoxon signed rank sum test. Multiple linear regression analyses were used to evaluate the associations of thyroid hormones (THs) and THSPs changes with pubertal develepment.@*Results@#Serum TSH levels of female studentds decreased significantly, while their FT3 and FT4 levels increased significantly during the study period ( Z=-10.53, -4.71, -12.46, P <0.01). In multiple linear regression analysis after adjustment for co-variables (including baseline age, change of BMI and waist circumference), FT4 and thyroid feedback quantile-based index (TFQI) in the higher puberty category scores changes (△PCS) group were further reduced compared with those in the low △PCS group ( β =-0.66, -0.55 ). Compared to the late puberty at baseline and follow-up (BLFL) group, FT4 and TFQI showed higher decline in the pre-puberty at baseline and late puberty at follow-up (BPFL) group with the pre-puberty at baseline and end of puberty at follow-up (BPFT) group ( β =-0.55, -0.44)( P <0.05). There were no association of △TSH, △FT3, △FT4/FT3 and TSH index changes (△TSHI) with △PCS or the puberty pattern.@*Conclusion@#Serum TSH decreases while serum FT3 and FT4 increase among girls during puberty. Both the initial stage and the velocity of pubertal development are related to thyroid hormone fluctuations.

Prenatal diagnosis of Cri-du-chat syndrome: analysis of 11 cases / 中华围产医学杂志

Objective:To investigate the ultrasonographic and genetic features of Cri-du-chat syndrome (CDCS).Methods:In this retrospective study, cases with CDCS diagnosed in Wuxi Maternal and Child Health Care Hospital from 2004 to 2021 and with complete data were reviewed to describe and analyze the maternal serum prenatal screening, non-invasive prenatal testing (NIPT), ultrasound, genetic examination data, and pregnancy outcomes.Results:All cases were diagnosed by karyotype analysis, seven of them were diagnosed prenatally through amniotic fluid, and four were diagnosed after birth through peripheral blood. Five of the seven cases diagnosed prenatally had an abnormal serological screening, including two cases with 5p- indicated by NIPT. Of the 11 cases, prenatal ultrasonography showed cerebellar transverse diameter less than －2 SD in eight cases, including four with cerebellar hypoplasia (CH), two with fetal growth restriction, and two with cranial diameters less than －2 SD. One case was shown with an increased nuchal translucency, accompanying bilateral choroid plexus cysts of the lateral ventricles, and suspected persistent left superior vena cava. No obvious ultrasound abnormality was observed in the remaining two cases. Among the seven cases diagnosed prenatally, excluding one case that refused parental verification, further single nucleotide polymorphism array (SNP array) showed that all six cases inherited the de novo mutations from the parents. The cytogenetic analysis found the breakpoints at 5p13, 5p14, and 5p15 in five, three, and three cases. All seven pregnancies were terminated in the second trimester. Four children diagnosed postnatally presented with CDCS phenotype during the follow-up at three years old. Conclusions:Fetal CDCS should be considered with CH detected by prenatal ultrasonography, though the correlation between CH and CDCS still needs further investigation. Gene mapping with an SNP array is helpful for phenotypic profiling and genetic counseling.

Application of atomic force microscope in the study of enamel with dental fluorosis / 中华地方病学杂志

At present, the exact pathogenesis of dental fluorosis is not clear, and there is no exact standard of enamel acid etching in the adhesive restoration of dental fluorosis. Atomic force microscope represents a great progress in high-resolution imaging of biomaterials, and its advantage is that it can provide three-dimensional images and quantitative data of observed samples at the nanometer level. In recent years, the application of atomic force microscope in enamel study has made some progress. Whether the quantitative analysis of enamel ultrastructure can become a new way to study the pathogenesis of dental fluorosis and find the best repair method is worthy of further exploration. This paper reviews the application of atomic force microscope in the study of enamel with dental fluorosis.

Prenatal diagnosis and genetic counseling in 19 cases with 22q11.2 microduplications / 中华医学遗传学杂志

OBJECTIVE@#Patients with 22q11.2 microduplications have highly variable clinical phenotypes. The clinical manifestations and prognosis of 19 fetuses carrying 22q11.2 microduplications were analyzed.@*METHODS@#The fetuses were analyzed by single nucleotide polymorphism array (SNP array), which was followed by parental validation. Pregnancy outcome and clinical features of the newborns were analyzed in order to delineate genotype-phenotype correlation.@*RESULTS@#Two fetuses were identified by karyotyping analysis of amniotic fluid samples. SNP array revealed that all have carried a 468.8 kb~3.4 Mb duplication in 22q11.2 region. Two couples have refused parental verification. Seven cases were inherited from the mother, 6 were from the father, and 4 cases were de novo in origin. Three couples opted termination of the pregnancy. One fetus perished at birth. Five newborns showed delayed growth, the remaining 10 were normal.@*CONCLUSION@#The prenatal phenotype of fetuses carrying 22q11.2 microduplications are nonspecific, and the phenotypes of survivors may become more diverse along with increased age. Professional evaluation and long-term follow-up should be recommended.

Prenatal diagnosis of Jacobsen syndrome in a fetus carried by a pregnant woman with intellectual disability / 中华医学遗传学杂志

OBJECTIVE@#To assess the value of combined cytogenetic and molecular techniques for the prenatal diagnosis of a pregnant woman with intellectual disability (ID).@*METHODS@#The fetus and its parents were subjected to G-banding karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) analysis.@*RESULTS@#G-banding karyotype analysis revealed that the woman has carried a chromosomal microdeletion 46,XX,del(11)(q24), and the fetus was a carrier of 46,XN,del(11)(q24)mat. Subsequent SNP-array and FISH analysis of the pregnant woman indicated that the microdeletion has mapped to 11q24.1-q25. Both the pregnant woman and her fetus were diagnosed with Jacobsen syndrome.@*CONCLUSION@#Combined use of cytogenetic and molecular genetic techniques can facilitate diagnosis of patients with intellectual disability.

Preparation and Application of Immunoaffinity Column for Multi-mycotoxins / 分析化学

The three-in-one immunoaffinity column ( IAC ) for the determination of aflatoxin B1 ( AFB1 )-zearalenone (ZEN)-deoxynivalenol (DON) was prepared with rProtein A-sepharose 4B as the column matrix. The comprehensive performance ( such as nonspecific adsorption, column blank, column capacity, column efficiency and sample standard addition recovery rate) was evaluated and investigated. The results showed that, the column capacities of AFB1 , ZEN, DON were 295 ng per 0. 25 mL gel, 905 ng per 0. 25 mL gel, 2342 ng per 0. 25 mL gel, respectively, and the column blank was 0. The average recoveries of AFB1 , ZEN and DON were 97. 4%, 98. 0% and 98. 4%, respectively. By optimizing conditions, the samples were extracted using the mixture of methanol and water (80:20, V/V), and diluted with phosphate buffered saline (contain 0. 1% Tween-20, PBST). The detection results of FAPAS (Food Analysis Performance Assessment Scheme) by different batch three-in-one columns were close to the target value. The prepared three-in-one immunoaffinity column which could take the place of conventional single immunoaffinity column was able to meet the requirement for treatment of food and feed samples, and lay a foundation for one step enrichment, purification and detection of multi-mycotoxins.

Explore the dynamic alternation of gene PLAC4 mRNA expression levels in maternal plasma in second trimester for nonivasive detection of trisomy 21

OBJECTIVE: Noninvasive prenatal detection of trisomy 21 (T21) has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism in circulating placenta specific 4 (PLAC4) mRNA in maternal plasma with a few assays in recent years. Our research is to explore the variations of PLAC4 mRNA expression level in maternal plasma with normal pregnancies in second trimester, which can provide pregnant women deeper insights with suitable detection period for the non-invasive prenatal detection of T21. METHODS: We measured a serial plasma PLAC4 mRNA concentrations weekly from the same 25 singleton normal pregnant women. We recruited maternal plasma samples from 45 singleton pregnant women, comprising of 25 euploid pregnancies (control group; range, 17 to 21 weeks) and 20 T21 pregnancies (T21 group; range, 19 to 24 weeks). With the application of reverse transcription polymerase chain reaction, we achieved an insight of PLAC4 mRNA expression levels in maternal plasma during second trimester with euploid pregnancies. RESULTS: Among the control group, the levels of PLAC4 mRNA expression in the gestation of 17 to 18 weeks were significantly less than those in the gestation of 18 to 21 weeks (P0.05). CONCLUSION: The PLAC4 mRNA showed a higher level of expression in the gestation of 18 to 21 weeks with an euploid pregnancy of pregnant women. We also found that there was no significant difference in plasma PLAC4 mRNA concentration between the normal and the T21 pregnancies in second trimester.

Prenatal diagnosis for a women with a suspected birth history of Angelman syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To verify the diagnosis of Angelman syndrome(AS) in a proband in order to provide prenatal diagnosis for his family.</p><p><b>METHODS</b>Array comparative genome hybridization(array-CGH) and fluorescence in situ hybridization(FISH) on metaphase chromosomes were performed.</p><p><b>RESULTS</b>The karyotype of the proband was normal, and a regional deletion of 15q11.1-11.2 was detected by array-CGH. FISH analysis has confirmed loss of heterozygosity in 15q11.2. No positive results were obtained by array-CGH or karyotype analysis. Amniotic fluid sample was taken from the proband's mother upon her subsequent pregnancy. The karyotype of the fetus was normal, but SNP microarray chip analysis has identified loss of heterozygosity in 8p23.1-p22. As no abnormality was observed by ultrasound and other prenatal examinations, the pregnancy was recommended to continue to full-term, and a healthy infant was born.</p><p><b>CONCLUSION</b>Clinically suspected AS can be diagnosed by array-CGH and FISH. The result may facilitate accurate genetic counseling and prenatal diagnosis for the affected family.</p>

Atomic force microscopy and scanning electron microscopic study on the fluorosis of enamel in rats / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To investigate the ultrastructure of enamel in the mandibular incisor tooth in a rat model of dental fluorosis.</p><p><b>METHODS</b>Thirty 5-week-old male and female rats of SD strain were divided into three groups of ten. The animals in the control group were maintained for 8 weeks on pure deionized water, in the low-fluoride group deionized water with 22.5 mg/L of fluorine (50 mg/L NaF) was used, and in the high-fluoride group deionized water with 45 mg/L of fluorine (100 mg/L NaF) was used. All specimens examined were obtained from the mandibular incisors. Mid-sagittal ground sections were prepared from the direction of incisal point of each incisor for scanning electron microscopy (SEM) and atomic force microscopy (AFM).</p><p><b>RESULTS</b>According to the SEM results, the prisms in the control group had a complete and clear column structure with closely packed enamel rods or enamel prisms. The prisms in the high-fluoride experimental group were collapsed and showed curved and fractured crystallites. The level of prism structural changes in the low-fluoride experimental group was in between that of the control group and the high-fluoride group. AFM for the middle layer enamel showed an average roughness (Ra) of (550.6±32.0) nm in the control group, (415.0±24.2) nm in the low-fluoride group, and (194.3±11.3) nm for the high-fluoride group. There was significant difference between the high-fluoride group and the control group (P<0.05).</p><p><b>CONCLUSIONS</b>Formation of rat enamel in the high fluoride environment presented obvious structural collapse and no clearance between prisms. Such changes appear to indicate a loss of normal prism structure in rat enamels from exposure to high levels of fluorine during the maturation period.</p>

Effects of noncoding RNA NRON gene regulation on human umbilical vein endothelial cells functions / 中华心血管病杂志

<p><b>OBJECTIVE</b>To determine the effects of noncoding repressor of NFAT (NRON) overexpression or silencing on human umbilical vein endothelial cells (HUVECs) functions.</p><p><b>METHODS</b>Stable HUVECs cell lines with NRON overexpression and short hairpin RNA (shRNA) interference were obtained. HUVECs, the empty vector pBABE-cell line and the empty vector pSuper-cell line served as controls. Cell proliferations of these cell lines were tested using MTS method, tube formation capacity and migration function were also examined.</p><p><b>RESULTS</b>MTS experiments evidenced dose-dependent cells proliferations in all cell lines after 48 h culture with fetal bovine serum (HUVECs, r = 0.91;pBABE empty vectors cell-line, r = 0.88;NRON overexpression cell-line, r = 0.89;pSuper empty vectors cell-line, r = 0.95;shRNA infererence cell-line, r = 0.97). Proliferation capacity was lower in NRON overexpressed HUVECs and was higher in NRON silencing HUVECs compared with pBABE empty vectors treated and normal HUVECs (all P < 0.05). Tube formation and migration functions were also reduced in NRON overexpressed HUVECs [(8.33 ± 0.12) roots, (1857 ± 65) cells] and increased in shRNA infererence of NRON treated HUVECs [(36.00 ± 0.51) roots, (6987 ± 50) cells] compared with pBABE empty vectors treated HUVECs [(19.67 ± 1.42) roots, (4411 ± 117) cells], pSuper empty vectors treated HUVECs [(17.33 ± 2.93) roots, (3883 ± 109) cells] and normal HUVECs [(23.33 ± 3.01) roots, (5145 ± 72) cells, all P < 0.05].</p><p><b>CONCLUSION</b>NRON overexpression could reduce and NRON silencing could increase proliferation, tube formation and migration capacities of HUVECs.</p>

Synthesis of metabolites of bicyclol / 药学学报

Bicyclol is a new generation of anti-hepatitis drug with China's own intellectual property rights. The chemical structure of bicyclol is new and original. Pharmacological research showed that it has high clinical efficacy in treating chronic hepatitis (HBV) patients and lower side effects. Two metabolites of bicyclol have been isolated: M2 (4-hydroxy-4'-methoxy-5, 6, 5', 6'-bis (methylenedioxy)-2-hydroxylmethyl-2'-methoxycarbonyl biphenyl) and M3 (4'-hydroxy-4-methoxy-5, 6, 5', 6'-bis (methyl enedioxy)-2-hydroxylmethyl-2'-methoxycarbonyl biphenyl). To further study the mechanism, safety, and effectiveness of bicyclol, the M2 and M3 have been total synthesized. The synthesis route is as following: the carboxyl and phenolic hydroxyl group of the aromatic bromide had been separately protected by bromobenzyl, coupling through the intermolecular asymmetric Ullmann reaction and then catalyst hydrogenated, borane reducted, two metabolites of bicyclol M2 and M3 were obtained. The structures were determined by IR, 1H NMR, HRMS. Comparison of hepatoprotective activity of bicyclol and the two metabolites on experimental liver injury, the potency of the metabolites were lower than that of bicyclol.