Molecular cytogenetic characterization of 2q deletion and Xq duplication associated with nasal bone dysplasia in prenatal diagnosis: A case report and literature review.

OBJECTIVE: We report a prenatal case of male fetus with a 2q13 deletion and an Xq27.3q28 duplication, presenting nasal bone dysplasia by ultrasound examination. And we compare the similarities of clinical features of cases consisting of similar 2q deletion and Xq duplication. CASE REPORT: A 30-year-old woman was referred for prenatal diagnosis and genetic counseling at 24 weeks of gestation. Prenatal ultrasound showed nasal bone dysplasia of the fetus. Amniocentesis revealed the karyotype of the fetus as 46, XY and the results of chromosomal microarray analysis was arr[GRCh37] 2q13(110467258-111370025)x1, arr[GRCh37]Xq27.3q28(144050780-149748782)x2. The parents both have normal karyotypes. The couple chose to continue the pregnancy and finally delivered a male infant at 39 weeks of gestation. His weight was 2850 g and length was 50 cm. Physical examination of the newborn revealed no apparent anomalies. Until the boy was one year old, there was no abnormalities in his growth and development. The long-term follow-up till adulthood for the healthy infant is necessary. CONCLUSION: The development of CMA plays a critical role in prenatal diagnosis and genetic counseling for unidentified chromosomal anomalies. More clinical information and further studies of patients with these anomalies will identify the pathogenicity of the involving genes and improve the understanding of the phenotype-genotype correlation.

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) inherited from her mosaic sSMC(15) mother and a literature review.

OBJECTIVE: We characterized a maternally inherited small supernumerary marker chromosome (sSMC) derived from chromosome 15 according to prenatal detection and made a review on the prenatal sSMC(15) cases with mosaic maternal inheritance. CASE REPORT: A 29-year-old woman underwent amniocentesis at 19 weeks of gestation due to the high risk of Down syndrome in maternal serum screening. No abnormalities were observed in prenatal ultrasound findings. G-banding analysis revealed a karyotype of 47,XX,+mar. Subsequently, we recalled the couple back for chromosomal analysis. The father's karyotype was normal while the mother's karyotype was 47,XX,+mar[15]/46,XX[35]. Molecular genetic analysis was utilized to identify the marker chromosome. The chromosomal microarray analysis (CMA) results of the mother showed there existed microduplications in the locus of 14q32.33, 15q21.1, 19p12 and Xq26.2, respectively. Then Fluorescence in situ hybridization (FISH) using specific probes for chromosomes 13/21, 14/22, and 15 was applied on the mother and the fetus. And the marker chromosomes for the mother and the fetus were all finally identified as inv dup(15) (D15Z1++, SNRPN-, PML-), which illustrated that the fetus inherited the sSMC(15) from her mother. Finally, a healthy female infant was delivered with no phenotypic abnormalities at 39 weeks. CONCLUSION: The combined utilization of the molecular genetic technologies, such as FISH and CMA, plays a critical role in the identification of the origins and genetic constitutions of sSMC, which would make a significant contribution to genetic counseling and prenatal diagnosis.

Efficacy of Dapoxetine for the treatment of premature ejaculation: a meta-analysis of randomized clinical trials on intravaginal ejaculatory latency time, patient-reported outcomes, and adverse events.

OBJECTIVE: To evaluate the efficacy of dapoxetine in the treatment of premature ejaculation (PE) with a meta-analysis method. METHOD: We looked for randomized controlled trials (RCTs) from MEDLINE, EMBASE, Cochrane library, "International Standard Randomized Controlled Trial Number Register," and "ClinicalTrials.gov," which reported efficacy of dapoxetine for PE. Two reviewers searched and examined the RCTs independently. The meta-analysis was performed by RevMan5.0 software. RESULTS: We included 5 RCTs comparing dapoxetine with placebo. Dapoxetine was more effective than placebo for intravaginal ejaculatory latency time (weighted mean difference = 1.47; 95% confidence interval [CI] = 1.22-1.71; P <.00001). For the 4 patient-reported outcomes, dapoxetine was also more effective (for clinical global impression of change, odds ratio [OR] = 3.19; 95% CI, 2.47-4.11; P <.00001; for composite patient-reported outcomes criteria for clinical benefit, OR = 2.29; 95% CI, 1.74-3.00; P <.00001; for satisfaction with sexual intercourse, OR = 1.89; 95% CI, 1.68-2.12; P <.00001; for decrease in personal distress related to ejaculation, OR = 0.72; 95% CI, 0.57-0.90; P <.00001). CONCLUSION: Dapoxetine is effective and well tolerated for either lifelong or acquired PE. But the long-term benefits and safety remain to be investigated.

Synthesis, characterization and cytotoxicity of new rotundic acid derivatives.

Rotundic acid (RA, 1), a natural compound, exhibits potent tumor cell growth inhibiting properties. To date there are no reports on derivatives of RA. Furthermore, the 28-COOH position of RA might make it unstable and induced serious gastrointestinal side effects when it was applied in vivo. Therefore, in order to explore and make use of this compound, eight new amino acid derivatives of RA at the 28-COOH position were synthesized and evaluated for their cytotoxicities in vitro on three tumor cell lines including A375, HepG2 and NCI-H446. As a result, a few of these new amino acid derivatives showed stronger cytotoxicity. Compound 5a was found to have the best inhibition activity on the three tested human tumor cell lines with IC(50) values of less than 10 µM compared with RA treatment. Meanwhile, the cytotoxicity of compound 6b was significantly higher than that of RA on the A375 cell line and almost the same as RA on the HepG2 and NCI-H446 cell lines. Hence, compounds 5a and 6b may serve as potential lead compounds for the development of new anti-tumor drugs.