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1.
Med Mol Morphol ; 57(2): 147-154, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38421457

RESUMO

We report on single case of intraplacental choriocarcinoma (IC) coexisting with feto-maternal hemorrhage from our hospital, a rare malignant tumor that occurs in the chorionic villous trophoblast. To investigate genetic and epigenetic changes to the carcinogenesis of IC, we employed cancer gene panel analysis and whole methylation analysis from a recent case of IC. By Short Tandem Repeats analysis, we confirmed that the tumor of present IC was derived from concurrent normal chorionic villous trophoblast cells. No mutation was found in 145 cancer-related genes. Meanwhile, amplification in MDM2 gene was observed. Furthermore, we observed deferentially methylated CpG sites between tumor and surrounding normal placenta in present IC case. These observations suggest that IC might be arisen as a result of aberrations of methylation rather than of DNA mutations. Further studies are needed to clarify association between aberrant methylation and choriocarcinogenesis.


Assuntos
Coriocarcinoma , Metilação de DNA , Humanos , Feminino , Coriocarcinoma/genética , Coriocarcinoma/patologia , Gravidez , Adulto , Neoplasias Uterinas/genética , Neoplasias Uterinas/patologia , Repetições de Microssatélites/genética , Trofoblastos/patologia , Trofoblastos/metabolismo , Placenta/patologia , Ilhas de CpG/genética
2.
Oxf Med Case Reports ; 2021(6): omab039, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34158955

RESUMO

Abdominal wall hypoplasia is a widely known clinical finding of genetic disorders such as the prune belly syndrome. On the other hand, there are few cases of abdominal wall muscle hypoplasia associated with fetal ascites due to fetal hydrops caused by fetal anemia have been reported. We report a case of fetal chylous ascites without anemia, resulting in abdominal wall muscle hypoplasia and flabby skin. At 17 weeks of gestation, fetal ascites was first detected and deteriorated without anemia. At 28, 33 and 36 weeks of gestation, paracentesis was performed three times because of cardiovascular impairment, confirming chylous ascites. After birth, the baby exhibited a flabby skin and lateral abdominal wall hypoplasia, resulting in difficulties in maintaining a sitting posture at 10 months of age. The genetic test using the TruSight One Sequencing Panels found no genetic variants. This case suggests that abdominal wall hypoplasia could be associated with fetal ascites without anemia.

4.
Med Mol Morphol ; 52(4): 209-216, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30879129

RESUMO

Clinical trials have shown that administering heparin during the luteal phase has beneficial effects on implantation and live birth rates. Heparin exerts direct effects on decidual human endometrial stromal cells (HESCs), which are independent of its anticoagulant effect. However, the accurate effects of heparin on the decidualization process remain unidentified. Here, we demonstrate that HESCs become dramatically resistant to oxidative stress upon decidualization, and we hypothesize a possible direct action of heparin on the decidualization of HESCs, which would lead to improved implantation. To test this hypothesis, we established primary HESC cultures and propagated them, and then we decidualized confluent cultures with 8-bromo-cAMP, with medroxyprogesterone acetate, and with or without heparin. We treated the cells with hydrogen peroxide (H2O2) as a source of reactive oxygen species (ROS). Adding heparin to decidualized HESCs induced prolactin secretion. Decidualized HESCs treated with heparin were prevented from undergoing apoptosis induced by oxidative stress. Heparin induced nuclear accumulation of the forkhead transcription factor FOXO1 and expression of its downstream target, the ROS scavenger superoxide dismutase 2. These results demonstrate that heparin-treated decidualized HESCs acquired further resistance to oxidative stress, suggesting that heparin may improve the implantation environment.


Assuntos
Apoptose/efeitos dos fármacos , Decídua/metabolismo , Endométrio/efeitos dos fármacos , Heparina/farmacologia , Estresse Oxidativo/efeitos dos fármacos , Células Estromais/efeitos dos fármacos , Células Cultivadas , Endométrio/metabolismo , Células Epiteliais/efeitos dos fármacos , Células Epiteliais/metabolismo , Feminino , Proteína Forkhead Box O1/metabolismo , Fatores de Transcrição Forkhead/metabolismo , Regulação da Expressão Gênica/efeitos dos fármacos , Humanos , Peróxido de Hidrogênio/farmacologia , Progesterona/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Células Estromais/metabolismo , Superóxido Dismutase/metabolismo
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