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1.
Journal of Chinese Physician ; (12): 1039-1041, 2018.
Article in Chinese | WPRIM | ID: wpr-705949

ABSTRACT

Objective To explore the clinical value of intracranial translucency (HT) in open spina bifida at 11-13 +6 weeks of gestation.Methods Abdominal ultrasound was performed in 200 cases of normal fetus and 6 cases of confirmed open spina bifida at 11-13 +6 weeks of gestation to compare the morphology of IT,diencephalon and midbrain.Results Fetal IT was readily recognized in all 200 normal cases,with diencephalons and midbrain showing number "8" shape.In 6 cases of open spina bifida,fetal IT cannot be identified,and the expected " 8" shape of diencephalon and midbrain was distorted.During 11-13 +6 weeks of pregnancy,the fetal brain is caused by intracranial negative pressure,resulting in morphological changes in the intracranial hyaline,diencephalon and mesencephalon.Conclusions Fetal brain characteristics including intracranial translucency and the shape of diencephalon and midbrain in 11-13 +6 weeks gestation are valuable ultrasound screening indicators for opens pina bifida.

2.
Chinese Journal of Medical Genetics ; (6): 344-348, 2016.
Article in Chinese | WPRIM | ID: wpr-247676

ABSTRACT

<p><b>OBJECTIVE</b>To explore the pathogenetic mechanism for a female patient affected with hemophilia A (HA).</p><p><b>METHODS</b>Potential genetic defect was detected with inverse shifting-polymerase chain reaction (IS-PCR). The pattern of X chromosome inactivation was determined with a human androgen receptor assay (HUMARA assay). G-banded karyotyping was carried out to exclude potential chromosome aberrations.</p><p><b>RESULTS</b>IS-PCR showed that the defect of FVIII gene was the distal type of intron 22 inversion. The HUMARA assay showed that the X chromosome inactivation was non-random, and that the mother's X chromosome activity was lower than that of the father's X chromosome which has carried the inverted FVIII gene. No abnormalities were found with G-banded chromosomes.</p><p><b>CONCLUSION</b>The prevalence of female HA patient may be caused by non-random inactivation of X chromosomes.</p>


Subject(s)
Adolescent , Female , Humans , Hemophilia A , Genetics , Karyotyping , Polymerase Chain Reaction , Receptors, Androgen , X Chromosome Inactivation
3.
Journal of Guangzhou University of Traditional Chinese Medicine ; (6)2000.
Article in Chinese | WPRIM | ID: wpr-570214

ABSTRACT

Objective To compare the effects of dual-wavelength spectrophotometry and HPLC on the content of trimethoprim(TMP)in Compound Dihydroartemisinin Tablets.Methods HPLC was performed in a column of C 18 with acetonitrile and 0.75% diethylamine(15∶85,adjusting pH to 2.5 by phosphoric acid)as the mobile phase and the detecting wavelength was at 271nm.The detecting wavelength was also at 271nm with reference wavelength at 366nm in dual-wavelength spectrophotomerty.Results Within 20.0~100.0 ?g/mL,TMP has a good linearity(r=0.999 94)by HPLC,and the average recovery was 100.9% with RSD being0.24%(n=5).By dual-wavelength spectrophotometry,a good linearity(r=0.999 95)of TMP was within 5.0~25.0 ?g/mL,and the average recovery was 100.0% with RSD being 0.45%(n=5).Conclusion Both dual-wavelength spectrophotometry and HPLC can be used to determine the content of TMP in Compound Dihydroartemisinin Tablets,but the former can detect the content of TMP directly without the disturbance of piperaquine phosphate and is simple,rapid and accurate.

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