Evaluation of Uterine Tumor Angiogenesis with Quantitative Magnetic Resonance Imaging Perfusion Parameters / 中国医学科学院学报

The development and metastasis of uterine tumors depend highly on tumor angiogenesis. Multiphase dynamic contrast-enhanced magnetic resonance imaging can quantitatively describe the hemodynamic changes of uterine tumors based on a variety of tracer kinetic models and time-signal curves and by simulating the distribution of contrast inside and outside the blood vessels. Functional parameters can accurately and noninvasively assess tumor angiogenesis. It provides a non-invasive functional evaluation method for the differential diagnosis,staging,response evaluation,and prognostic prediction of uterine tumors.

Correlationship between chemokines and oxidative stress in chronic hepatitis B / 中华实验和临床病毒学杂志

<p><b>OBJECTIVE</b>The aim of this study is to investigate the possible associations of chemokines IP-10, Rantes and oxidative stress in chronic hepatits B (CHB).</p><p><b>METHODS</b>70 CHB patients and 10 healthy controls were enrolled in the study. Enzyme-linked immunosorbent assay (ELISA) was used to detect the serum levels of IFN-gamma-inducible protein-10 (IP-10) and regulated on activation normal T-cell-expressed and secreted (Rantes) and oxidative stress parameters (glutathione, GSH; glutathione disulfide, GSSG). Correlationship were analyzed by Spearman's rank correlation.</p><p><b>RESULT</b>The levels of IP-10 and Rantes were higher in CHB patients than healthy controls, and strong positive associations were found between IP-10/Rantes and alanine aminotransferase (ALT). The levels of GSH and GSH/GSSG were lower in CHB patients than healthy controls, and GSH and GSH/GSSG were negatively correlated with ALT. The levels of IP-10 and Rantes were negatively correlated with GSH and GSH/GSSG respectively.</p><p><b>CONCLUSION</b>Strong associations were found between chemokines and oxidative stress which participated in the pathogenesis of CHB.</p>

Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutations of ED1 gene in six pedigrees with hypohidrotic ectodermal dysplasia (HED), and to provide genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>Eight coding exons of ED1 gene of patients with clinically diagnosed HED and their relatives were amplified by polymerase chain reaction (PCR). The products were further analyzed by direct sequencing.</p><p><b>RESULTS</b>Various mutations of ED1 gene were detected, which included R153C, A349T, G299S, A349T and X392Q. Heterozygous double peaks at the same position were found in female carriers. Deletion of exon 9 was detected in one pedigree. R153C, X392Q and deletion of exon 9 were first identified in ethnic Han Chinese.</p><p><b>CONCLUSION</b>The identified mutations of ED1 gene may be responsible for the disease. Genetic counseling, prenatal diagnosis and carrier screening are now available for these families.</p>

Mutation analysis and prenatal diagnosis of a Chinese family with X-linked severe combined immunodeficiency / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the mutation of IL2RG gene in a Chinese family with a birth history of a dead child suspected of X-linked severe combined immunodeficiency (X-SCID), and to perform prenatal diagnosis with DNA sequencing.</p><p><b>METHOD</b>Blood samples of the parents of the dead child and chorionic villi at gestational age 11 weeks were collected. Eight exons comprising the open reading frame as well as their exon/intron boundaries of IL2RG gene were analyzed by PCR and bi-directional sequencing.</p><p><b>RESULT</b>A heterozygous nucleotide substitution c.690C > T (R226C) in exon 5 was detected in the mother, but not in the father. In the second pregnancy of the mother, the mutation of R226C was not detected in the male fetus by prenatal diagnosis, and the heterozygous mutation was detected in the female fetus of the third pregnancy. The reliability of the prenatal genetic diagnosis was confirmed by the one-year follow-up after the neonates were born.</p><p><b>CONCLUSION</b>The mutation of c.690C>T in IL2RG gene may be the pathologic cause of the proband with X-SCID. DNA sequencing combining sex determination is a valid strategy for prenatal diagnosis of X-SCID.</p>

Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the feasibility of genetic analysis of tyrosinase gene (TYR) in oculocutaneous albinism type I (OCA1). Mutation analysis and prenatal genetic diagnosis of TYR gene for seven pedigrees with OCA1 were performed.</p><p><b>METHODS</b>PCR was used to amplify the exons, exon-intron boundaries and promoter of the TYR gene in the probands and/or their parents. The products were further analyzed by direct sequencing. Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of the probands or their parents were determined.</p><p><b>RESULTS</b>Compound heterozygous mutations were detected in all pedigrees, which included 9 mutations, namely R76Q, c.232insGGG, R116X, R278X, R299H, c.929-930insC, IVS2-11delTT, Q399X and W400L. Among these, R76Q and Q399X were identified for the first time. Seven families have requested prenatal diagnoses. One fetus was detected with double mutations of TYR gene, and the parents have decided to have therapeutic abortion. Two fetuses did not carry the mutations identified in the probands, whilst other four fetuses were carriers of heterozygous mutations. Six families decided to carry on with the pregnancies. And the neonates did not show any symptoms of OCA after birth.</p><p><b>CONCLUSION</b>Direct sequencing of the TYR gene is helpful for genetic counseling, prenatal diagnosis and carriers screening of OCA1.</p>

Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the characteristics of the phenylalanine hydroxylase gene (PAH) mutations in patients with phenylketonuria (PKU) in Henan province, in order to provide basic information for genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>Mutations of the PAH gene were detected in exons 1-13 with flanking introns of PAH gene by PCR and DNA sequencing in 47 families with PKU.</p><p><b>RESULTS</b>A total of 25 different mutations were detected in 83 out of 94 PAH alleles (88.3%). Among them, E79fX13, H271R and D415Y have not been reported previously. It was the first time that IVS10-14C to G mutation was reported in Chinese PKU population. The mutations p.R243Q, EX6-96A to G, p.Y356X, IVS401G to A, p.R111X, p.V399V and p.R413P, were the prevalent mutations with relative frequencies of 20.5%, 12.0%, 9.6%, 9.6%, 8.4%, 8.4% and 7.2% respectively.</p><p><b>CONCLUSION</b>The mutations of the PAH gene in patients with classical phenylketonuria in Henan province were similar to that in other areas of China. Prenatal gene diagnosis for PKU by PAH gene sequencing is efficient for most PKU families.</p>

Correlation of the expressions of VEGF-C and VEGFR-3 to the pathological grade of prostate cancer / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the correlation of the expression of VEGF-C and VEGFR-3 to the pathological grade of human prostate cancer.</p><p><b>METHODS</b>Immunohistochemistry was used to detect the expression of VEGF-C and VEGFR-3 in 25 cases of prostate cancer tissues.</p><p><b>RESULTS</b>The total positivity rates of VEGF-C and VEGFR-3 were 80% and 76% in these cancer tissues, respectively. The positivity rates of VEGF-C was 94.7% in the 19 cases with Gleason scores no less than 6 (group I), significantly higher than the rate (33%) in the 6 cases with Gleason scores between 4 and 6 (group II) (P<0.01). The positivity rates for VEGFR-3 also showed a significant difference between groups I and II (89.5% vs 33.3%, P<0.05). The expression level of VEGF-C was correlated to the Gleason score of prostate cancer (R=0.436, P<0.05), and the correlation between VEGFR-3 and the Gleason score was even more obvious (R=0.608, P<0.01). Their expressions, however, did not show any correlations to the patients age, PSA or the volume of the prostate.</p><p><b>CONCLUSION</b>VEGF-C and VEGFR-3 may serve as new markers for evaluating the malignancy of prostate cancer with Gleason score not less than 4.</p>

Natural gas and indoor air pollution: a comparison with coal gas and liquefied petroleum gas / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>The study was designed to compare the combustion products of coal gas, liquefied petroleum gas and natural gas in relation to indoor air pollution.</p><p><b>METHODS</b>Regular pollutants including B(a)P were monitored and 1-hydroxy pyrene were tested in urine of the enrolled subjects. Radon concentrations and their changes in four seasons were also monitored in the city natural gas from its source plant and transfer stations to final users. To analyze organic components of coal gas, liquefied petroleum gas and natural gas, a high-flow sampling device specially designed was used to collect their combustion products, and semi-volatile organic compounds contained in the particles were detected by gas chromatograph-mass spectrograph (GC/MS).</p><p><b>RESULTS</b>Findings in the study showed that the regular indoor air pollutants particles and CO were all above the standard in winter when heating facilities were operated in the city, but they were lowest in kitchens using natural gas; furthermore, although NO2 and CO2 were slightly higher in natural gas, B(a)P concentration was lower in this group and 1-hydroxy pyrene was lowest in urine of the subjects exposed to natural gas. Organic compounds were more complicated in coal gas and liquefied petroleum gas than in natural gas. The concentration of radon in natural gas accounted for less than 1% of its effective dose contributing to indoor air pollution in Beijing households.</p><p><b>CONCLUSION</b>Compared to traditional fuels, gases are deemed as clean ones, and natural gas is shown to be cleaner than the other two gases.</p>