RESUMEN
Split hand/foot malformation is a heterogeneous congenital disorder mainly presented with a median cleft of hands or/and feet. It can be associated with long bone aplasia, a syndrome also known as split hand/foot syndrome with long bone deficiency (SHFLD), which is a very rare condition. We report a very rare case of a male fetus with SHFLD syndrome combined with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome. FATCO syndrome is also an extremely infrequent congenital limb defect by itself. Based on our review of the literature, there appears to be no other FATCO case reported in Greece.
RESUMEN
Hepatocellular carcinoma (HCC) is one the most common primary malignancies with high mortality and morbidity. The melanoma-associated antigen (MAGE) gene family includes several genes that are highly expressed in numerous human cancers, making many of them part of the cancer-testis antigen (CTA) family. MAGE-C1 is expressed in various malignancies but is absent in normal cells, except for the male germ line. Its presence is associated with a worse prognosis, increased tumor aggressiveness, and lymph node invasion. Similarly, MAGE-C2 is linked to the development of various malignant tumors. Despite these associations, the roles and mechanisms of MAGE-C1/MAGE-C2 in HCC remain unclear. This study aimed to evaluate the expression of MAGE-C1 and MAGE-C2 in HCC and correlate it with clinicohistological characteristics. Our findings indicated that MAGE-C1 expression is associated with a higher number of nodules, elevated AFP levels, HBV or HCV positivity, older age, male sex, and lymph node invasion. MAGE-C2 expression was correlated with these characteristics and the presence of cirrhosis. These results align with the limited literature, which suggests a correlation between MAGE expression and older age and HBV infection. Consequently, our study suggests that MAGE-C1 and MAGE-C2 are promising novel biomarkers for prognosis and potential therapeutic targets in HCC.
RESUMEN
INTRODUCTION: Parvoviruses are DNA viruses of small size. There have been a number of reports indicating the possible effects of B19 infections during pregnancy. These effects include spontaneous abortions, stillbirth, fetal damage, and quite often, fetal anemia with hydrops fetalis.