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CONCLUSION Fetus with mosaic r(13), monosomy 13 and idic r(13) may present IUGR on prenatal ultrasound, and fetoplacental cytogenetic discrepancy may exist under such a circumstance. V.OBJECTIVE We present prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with central nervous system abnormalities. CASE REPORT A 39-year-old woman was found to have fetal bilateral ventriculomegaly and enlargement of the third ventricle on prenatal ultrasound at 32 weeks of gestation. Fetal magnetic resonance imaging examination confirmed bilateral ventriculomegaly and dysgenesis of the corpus callosum. Amniocentesis was performed subsequently. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniotic cells revealed trisomy 8 mosaicism with a result of arr [GRCh37] (8) × 3[0.19], (X,Y) × 1. Conventional cytogenetic analysis on cultured amniocytes showed that among 108 cells in 12 colonies of three cultures, only one cell was abnormal with trisomy 8, trisomy 9 and monosomy 13, while the rest 107 cells had a normal karyotype. Repeat amniocentesis and cord blood sampling revealed a result of arr 8p23.3q24.3 (191,530-146,280,020) × 2.3 with a log2 ratio of 0.2 compatible with 20-30% mosaicism for trisomy 8 on the uncultured amniocytes, and a result of arr 8p23.3q24.3 (191,530-146,280,020) × 2.1 with a log2 ratio of 0.08 compatible with less then 10% mosaicism for trisomy 8 on the cord blood lymphocytes. Polymorphic DNA marker analysis excluded uniparental disomy 8. A malformed 2440-g dead fetus was delivered at 34 weeks of gestation with facial dysmorphism. CONCLUSION Cytogenetic discrepancy can occur between cultured and uncultured amniocytes in mosaic trisomy 8 at amniocentesis. aCGH analysis on uncultured amniocytes is useful for confirmation of mosaic trisomy 8 at amniocentesis. Fetuses with low-level mosaicism for trisomy 8 may prenatally present ventriculomegaly and dysgenesis of the corpus callosum. V.OBJECTIVE We present the prenatal diagnosis of a class II 1q21.1 microdeletion in monozygotic (MZ) twins with discordant phenotypes. CASE REPORT A monochorionic diamniotic twin pair presented with discordant ultrasound anomalies; twin A had cardiovascular abnormalities, while twin B did not. No specific complications were noted in the twins during pregnancy. A single nucleotide polymorphism array revealed an identical class II 1q21.1 microdeletion inherited from a phenotypically normal mother and identified the twins as MZ. The deleted region encompassed both the proximal 1q21.1 thrombocytopenia absent radius syndrome region and the distal 1q21.1 recurrent microdeletion region. No other rare copy number variants (CNVs) were identified, and concordance was observed in the CNVs between the twins. CONCLUSION Discordant cardiovascular abnormalities may occur in MZ twins carrying the same class II 1q21.1 microdeletion. Further studies involving discordant MZ twins are needed to determine the modifying factors of the phenotypic heterogeneity of the microdeletion. V.OBJECTIVE To report cases of use of chelation therapy during pregnancy which resulted in favorable outcomes for the babies. MATERIALS AND METHODS In this retrospective cohort study, we described the evolution and outcome of 9 pregnancies in Italian thalassemic women who received deferoxamine (DFO) inadvertently during early pregnancy. RESULTS The use of deferoxamine during first trimester did not lead to adverse effects on the fetus or cause major complications for the gestation, although an increase in iron burden was observed after suspending chelation therapy. CONCLUSION In our experience, iron-chelation therapy might be administrated in pregnancy where the benefits to the mother outweigh the potential risks to the baby. V.OBJECTIVE This study investigated the lived experiences of ovarian cancer survivors amid the disease trajectory and psychosocial adaptation. MATERIALS AND METHODS Twenty-one women, all of whom were ovarian cancer survivors, were recruited from medical centers in Taiwan. Microtubule Associat inhibitor In-depth, face-to-face, semi-structured interviews were conducted and transcribed verbatim from audio recordings. The sample size was determined by information saturation during data collection. The steps of data process and analysis were performed using Giorgi's phenomenology. RESULTS Three themes and 12 subthemes were extracted (1) a depressed state, as if facing a fierce enemy being sentenced to a death penalty like facing an insurmountable challenge; contradictory information and helplessness; turnaround for treatment decision; and facing stigmatization from society; (2) shadow of cancer recurrence side-effects of cancer treatment; falling into desperation and frustration; worrying about cancer recurrence; and continuing to fight cancer; (3) a change of mindset to move forward experiencing changes in outlook on life; activating the self-healing process; coexisting with cancer and treating it as a chronic disease; and experiencing physical and mental purification and enhancement. CONCLUSION The conventional models caring for patients with ovarian cancer are based on disease and unable to meet their needs because the lengthy rehabilitation journey. Therefore, medical personnel should emphasize patients' medical autonomy and combine professional care and social resources to help patients developing adjustment strategies and establishing support systems in timely manner for body, mind, and soul of these patients. V.OBJECTIVE The present study aimed to evaluate insulin-like growth factor 2 antisense (IGF2-AS) in the villi of human embryos and compared its expression between normal pregnancy and early pregnancy loss (EPL). MATERIALS AND METHODS The present study conducted a microarray analysis to identify the expression profiles of lncRNAs in villi from EPL and normal controls (controls, n = 10 and EPL patients, n = 10). Embryonic villi were collected from women who underwent artificial abortion. QPCR was used to confirm the results. The DNA methylation patterns were analyzed using pyrosequencing and bisulfite sequencing polymerase chain reaction. The percentage of methylation was compared in chorionic villi from the two groups. RESULTS A total of 57 deregulated differentially expressed lncRNAs were detected, of which 33 were upregulated, and 24 were downregulated. The expression of lncRNA IGF2-AS was downregulated significantly in EPL villi compared with the normal villi. Negative regulation of IGF2-AS may be involved in the development of EPL.