Extra-genital endometriosisBACKGROUND: Even if endometriosis is usually an exclusively gynecological issue, atypical locations fall within the interest of general surgery. The aim of our retrospective study focuses on the need for surgeons to face this rare condition, in order to avoid unnecessary or inadequate treatment.
METHODS: We retrospectively analyzed clinical presentations, previous endometriosis diagnosis and surgical acts on a group of 60 patients, whose mean age was 38.2 years old, with extra-genital endometriosis.RESULTS: Among the 60 cases of extra-genital endometriosis collected, bowel foci, 37 cases -61,7% -were the most frequent; then we collected 13 (21.7%) skin, 7 (11.7%) urinary tract and 3 (5%) whole pelvis localizations. It's important to underline the finding of 2 aggressive malignant transformations. CONCLUSIONS: Extra-genital endometriosis should be considered as a cause of otherwise inexplicable abdominal pain in young women. Since imaging techniques lack in specificity, we propose explorative laparoscopy as a powerful diagnostic means. Moreover laparoscopy can be turned into a therapeutic act, also limiting the adherences issue, which is associated with this illness and would worsen with open surgery. Extra-genital endometriosis should be treated also to avoid rare, but possible, risk of cancerization.
This report is a retrospective study of preimplantation embryos diagnosed with monosomy for chromosomes 13, 15, 16, 18, 21, 22, X and Y on day 3 to determine the rate of true positives, false positives and/or mosaicism and to assess if these embryos are suitable for in vitro fertilization (IVF) transfer. In a one year period, 80 patients went through preimplantation genetic diagnosis for aneuploidy screening (PGD-AS). Monosomy was diagnosed in 51 embryos. Fluorescence in situ hybridization (FISH) was then performed on the blastomeres at day 5–7 with commercially available probes using the same probe set that initially identified monosomy for chromosomes 13, 16, 21 and 22 or chromosomes 15, 18, X and Y. Based on FISH analysis, the monosomy diagnosed during routine PGD-AS analysis was confirmed in 17 of the 51 embryos. A euploid result for the specific chromosomes tested was observed in 16 of the 51 embryos while mosaicism was found in the remaining 18 embryos. This results in an estimated false positive rate of 3.8% for a diagnosis of monosomy. Reanalysis of these embryos demonstrates that the majority of monosomy diagnoses represents true monosomy or mosaicism and should be excluded for transfer in IVF. Furthermore, improved understanding from recent emerging data regarding the fate of oocytes in women with advanced maternal age undergoing IVF to the development of early embryos may provide a valuable insight into the mechanism of chromosome mosaicism.
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