In Vitro and In Vivo Study on the Effect of Lysosome-associated Protein Transmembrane 4 Beta on the Progression of Breast Cancer / 한국유방암학회지

PURPOSE: Although the effect of lysosome-associated protein transmembrane 4 beta (LAPTM4B) on the proliferation, migration, and invasion of breast cancer (BC) cells has already been studied, its specific role in BC progression is still elusive. Here, we evaluated the effect of different levels of LAPTM4B expression on the proliferation, invasion, adhesion, and tumor formation abilities of BC cells in vitro, as well as on breast tumor progression in vivo. METHODS: We investigated the influence of LAPTM4B expression on MCF-7 cell proliferation, invasion, adhesion, and tube formation abilities in vitro through its overexpression or knockdown and on breast tumor progression in vivo. RESULTS: Cell growth curves and colony formation assays showed that LAPTM4B promoted the proliferation of breast tumor cells. Cell cycle analysis results revealed that LAPTM4B promoted the entry of cells from the G1 into the S phase. Transwell invasion and cell extracellular matrix adhesion assays showed that LAPTM4B overexpression increased the invasion and adhesion capabilities of MCF-7 cells. More branches were observed in MCF-7 cells overexpressing LAPTM4B under an electron microscope. In comparison with LAPTM4B overexpression, LAPTM4B knockdown decreased the expression of vascular endothelial growth factor-A and significantly inhibited the vasculogenic tube formation ability of tumors. These results were also verified with western blot analysis. CONCLUSION: LAPTM4B promoted the proliferation of MCF-7 cells through the downregulation of p21 (WAF1/CIP1) and caspase-3, and induced cell invasion, adhesion, and angiogenesis through the upregulation of hypoxia-inducible factor 1 alpha, matrix metalloproteinase 2 (MMP2), and MMP9 expression. This specific role deems LAPTM4B as a potential therapeutic target for BC treatment.

Clinical application value of transvaginal ultrasonography in the diagnosis of intrauterine adhesions / 中国基层医药

Objective To explore the clinical application of transvaginal ultrasonography in the diagnosis of intrauterine adhesions .Methods 95 patients with suspected intrauterine adhesions were selected as the study subjects.All patients were treated with vaginal two -dimensional,three-dimensional ultrasound,and the results and hysteroscopy results were compared .The sensitivity,specificity,positive predictive value ,negative predictive value and accuracy of two -dimensional and three -dimensional ultrasonography were analyzed .Results Of 95 cases with suspected intrauterine adhesions ,vaginal two -dimensional ultrasound diagnosed 54 cases of intrauterine adhesions , including 30 cases of mild adhesion ,18 cases of moderate adhesion ,6 cases of severe adhesion ,22 cases of missed diagnosis or misdiagnosis.Compared with hysteroscopy ,the difference was statistically significant (χ2 =12.213,P=0.007).Three -dimensional ultrasound diagnosed intrauterine adhesions in 63 cases,including 20 cases of mild adhesion ,35 cases of moderate adhesion ,8 cases of severe adhesion ,only 7 cases of missed diagnosis or misdiagnosis . Compared with hysteroscopy ,the difference was not statistically significant (χ2 =0.630,P=0.889),suggested that the diagnosis of vaginal three -dimensional ultrasound and hysteroscopy results was consistent , and vginal three -dimensional ultrasound was superior than two -dimensional ultrasound , the difference was statistically significant (χ2 =8.848,P=0.003).The sensitivity of transvaginal two -dimensional ultrasonography in diagnosis of intrauterine adhesions was 67.65％,which of three-dimensional ultrasound was 89.71％,there was statistically significant differ-ence between the two groups (χ2 =9.861,P=0.002).The specificity of two-dimensional ultrasound was 70.37％, which of three-dimensional ultrasound was 92.59％,there was significant difference between the two groups (χ2 =4.418,P=0.036).The positive predictive value of two -dimensional ultrasound was 85.19％,which of three -dimensional ultrasound was 96.83％,there was statistically significant difference between the two groups (χ2 =5.040, P=0.025).The negative predictive value of two -dimensional ultrasound was 46.34％,which of three-dimensional ultrasound was 78.13％, there was statistically significant difference between the two groups (χ2 =7.583, P =0.006).The diagnostic accuracy of two -dimensional ultrasound was 68.42％,which of three -dimensional ultra-sound was 90.53％,there was statistically significant difference between the two groups (χ2 =14.228,P=0.000). Conclusion Transvaginal three-dimensional ultrasound in diagnosis of intrauterine adhesions is more accurate than two-dimensional ultrasound , and the result is consistent with hysteroscopy .Transvaginal three -dimensional ultra-sound can be used as the preferred method of intrauterine adhesions .

Genetic study of a fetus with a de novo Xp22.33;Yp11.2 translocation / 中华医学遗传学杂志

OBJECTIVE@#To delineate cytogenetic and molecular abnormalities of a fetus carrying a de novo 46,X,der(X),t(X;Y)(p22.3;p11.2).@*METHODS@#G-banded karyotyping and next-generation sequencing (NGS) were used to analyze the fetus, his father and sister. Single nucleotide polymorphism-based arrays (SNP-array), multiple PCR and fluorescence in situ hybridization (FISH) were utilized to verify the result.@*RESULTS@#G-banded karyotyping at 320 bands showed that the fetus had a normal karyotype, while NGS has identified a 3.58 Mb microdeletion at Xp22.33 and a Y chromosomal segment of about 10 Mb at Yp11.32p11.2. With the sequencing results, high-resolution karyotyping at 550-750 bands level has determined the fetus to be 46,X,der(X)t(X;Y)(p22.3;p11.2). The result was confirmed by PCR amplification of the SRY gene, FISH and SNP-array assays. The karyotypes of his father and sister were both normal. His sister also showed no amplification of the SRY gene, and her NGS results were normal too, suggesting that the karyotype of the fetus was de novo.@*CONCLUSION@#Combined karyotyping, NGS, SNP-array, PCR and FISH assay can facilitate diagnosis of XX disorder of sex development.