Cyclin D1 gene amplification in proliferating haemangioma.

Cyclin D1 gene amplification has been reported to promote abnormal endothelial cell proliferation and angiogenesis; these findings constantly present in proliferating haemangiomas. The present study was conducted to evaluate cyclin D1 gene amplification by fluorescence in situ hybridization analysis in tissue biopsies of 22 proliferating haemangiomas from 20 infants. Two significant correlations of cyclin D1 gene amplification with the early onset and the duplication of proliferating haemangiomas have been observed. Moreover, a significant correlation (P< or =0.05) has been found between the treatment parameters of proliferating haemangiomas with the amplified versus the normal cyclin D1 gene. Proliferating haemangiomas with the amplified cyclin D1 gene required more frequent flashlamp pulsed dye laser treatment sessions at the maximum dosimetry and more frequent intralesional steroid injections at the maximum dose/injection but treatment outcomes were limited. The more frequent post-treatment complications among proliferating haemangiomas with cyclin D1 gene amplification might be attributable not only to the associated more aggressive natural course, but also to the higher treatment parameters needed for effective treatment. Within the limitations of the present study, cyclin D1 gene amplification was seen for the first time in proliferating haemangiomas. We have found that the amplification of the cyclin D1 gene can predict the more aggressive natural course of proliferating haemangiomas and the limited outcome and higher incidence of complications after non-excision treatment modalities. The present findings reflect the possible usefulness of antisense cyclin D1 to improve the therapeutic outcome of proliferating haemangiomas.

Characterization of embryonic cells obtained from multifetal reduction.

The multifetal reduction (MFR) procedure is usually reserved for high-order multiple pregnancies, and aspirated tissues are typically discarded. In this study, cells obtained from MFR tissue (termed multifetal reduction embryonic cells (MFR-ECs)), were characterized in vitro by genotypic and phenotypic analyses and tested in vivo by injection under the kidney capsule of nude mice. MFR-ECs were highly proliferative in culture and showed a normal karyotype by microarray CGH. Immunohistochemical analysis at day zero showed positive focal staining for desmin, S-100 protein, synaptophysin and chromogranin. Histology examination showed a mixture of cells from the three germ layers at different stages of differentiation. Markers of these stages included important developmental transcription factors, such as beta three-tubulin (ectoderm), paired box 6 (ectoderm) and alpha-smooth muscle actin (mesoderm). Quantitative polymerase chain reaction (qPCR) showed down-regulation of the mRNAs of cancer-related genes such as TP53. In vivo transplantation in nude mice showed a typical hyaline cartilage plate and no teratoma formation. Thus, MFR-ECs represent a rich, unique source for studying stem cell development, embryogenesis and cell differentiation.

Screening for chromosomal abnormalities in 2650 infertile couples undergoing ICSI.

Chromosomal abnormalities are the major contributor to the genetic risks of infertility treatment associated with intracytoplasmic sperm injection (ICSI). The study objective was to assess prospectively the frequency of chromosomal aberrations in couples undergoing ICSI. A total of 2650 infertile couples (5300 patients) underwent chromosome analysis before undergoing ICSI in the Egyptian IVF-ET Centre. Heparinized blood samples were cultured, harvested and banded according to standard methods. Overall, 96.94% of the patients studied (5138/5300) had a normal karyotype, while the remaining 162 patients (3.06%) had an abnormal karyotype. Male patients constituted the majority of abnormalities; 138 males (85.19%) and 24 females (14.81%). These chromosomal aberrations included 117 cases (2.2%) of sex chromosome abnormalities; 113 males and four females. Forty-five patients (0.85%) had autosomal aberrations; 25 of them were males and 20 were females. The current data show that chromosomal abnormalities affect 3.06% of infertile patients, and occur in both sexes, but more predominantly in males undergoing ICSI for male factor infertility. It is recommended that chromosomal analysis be performed before undergoing ICSI, to identify patients who can be offered preimplantation genetic diagnosis.