Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report.

OBJECTIVE: This study aimed to report a fetus with maternal partial trisomy 9p and 14q and the phenotype detected in ultrasound. METHODS: The chromosome rearrangements in the fetus were characterized by G-banding and chromosome microarray analysis based on single nucleotide polymorphism (SNP) array of cultured amniocytes and compared with the parents' karyotypes. RESULTS: The fetal abnormal karyotype was 47,XY,+der(14)(9;14)(p23;q22). The SNP array revealed a duplicate 11.8-Mb 9p23-p24.3 fragment and a duplicate 29.6-Mb 14q11.2-q21.3 fragment. The peripheral blood karyotype of the mother was 46,XX,t(9;14)(p23;q22), while the father's was normal at the level of 300~400 bands. A high-resolution karyotype analysis conformed the same abnormality of the mother at the level of 550~650 bands. These results indicated that the fetal chromosomal abnormality probably derived from the mother. The fetal nuchal translucency thickness was 3.5 mm, and the fetal heart was detected with around 1.0-mm ventricular defect by the ultrasound examination at 12-week gestation. The couple decided to terminate the pregnancy. They opted for in vitro fertilization and embryo transfer for the fourth pregnancy, which was successful. CONCLUSIONS: The SNP array combined with cytogenetic analysis was particularly effective in identifying abnormal chromosomal rearrangements. These methods combined with the existing database information and fetal ultrasonography might provide a comprehensive and efficient way for the prenatal assessment of fetal situations. Preimplantation genetic diagnosis might effectively assist those women with an adverse pregnancy history in their next pregnancy.

miR-34b inhibits the migration/invasion and promotes apoptosis of non-small-cell lung cancer cells by YAF2.

OBJECTIVE: Lung cancer is the leading cause of cancer death in the world and microRNAs (miRNA) have been found to be involved in the initiation and development of cancer by acting as potential oncogenes or tumor suppressor genes. PATIENTS AND METHODS: In this study, we investigated the expression of miR-34b in non-small cell lung cancer (NSCLC) patients and discussed the molecular mechanism of miR-34b in the invasion and migration of A549 cells in vitro. RESULTS: Our results showed that miR-34b was significantly down-regulated in primary cancer tissues when compared with the normal lung tissues. The over-expression of miR-34b inhibited migration and invasion, and promoted apoptosis of A549 lung cancer cells. Furthermore, Luciferase reporter assay validated YY1-associated factor 2 (YAF2) as a direct target of miR-34b and YAF2 expression was significantly increased in clinical NSCLC tissue samples. In addition, the over-expression of miR-34b inhibited YAF2, p-Jak2, p-STAT3 and MMP2 protein expression and promoted caspase 3 protein expression in cancer cells. CONCLUSIONS: Our results suggest that miR-34b may inhibit migration and invasion of NSCLC cells by targeting YAF2. Thus, our findings provide new insight into the molecular mechanisms of lung cancer metastasis and miR-34b may serve as a potential target in the treatment of human lung cancer.

MicroRNA-132 inhibits migration, invasion and epithelial-mesenchymal transition by regulating TGFß1/Smad2 in human non-small cell lung cancer.

OBJECTIVE: Increasing evidence shows that microRNA involves in the development of several types of cancers, however, the role of microRNA-132 (miR-132) in non-small cell lung cancer (NSCLC) metastasis remains largely unknown. In this study, we aimed to investigate the effect of miR-132 on the epithelial-mesenchymal transition (EMT) and the potential mechanisms in NSCLC. PATIENTS AND METHODS: The Quantitative real-time PCR (QRT-PCR) was used to detect the miR-132 levels in 15 NSCLC tissues and cell lines. Transwell and wound healing assays were used to evaluate the function of miR-132 in NSCLC cell metastasis. EMT-related markers were determined by using qRT-PCR. EMT-related TGFß1/Smad2 signaling pathway was explored using Western blot. RESULTS: MiR-132 expression level was lower in NSCLC tissues compared with the matched adjacent normal tissues. It was also downregulated in A549 cell lines compared to normal lung epithelial cell BEAS-2B. MiR-132 overexpression obviously inhibited migration and invasion capacities in A549 cells while miR-132 down-regulation would enhance such capacities. Expression of EMT-related markers and TGFß1/Smad2 was higher in A549 cells transfected with miR-132 inhibitor compared with those transfected with miR-132 mimic. Moreover, expression of EMT-related markers and Smad2 was increased in NSCLC tissues compared to in the adjacent normal tissues and the reverse expression of miR-132 and Smad2 was observed. CONCLUSIONS: These results indicate that miR-132 may play a suppressive role in the metastasis of NSCLC cells by promoting EMT via TGFß1/Smad2 signaling pathway.

Role of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in polycystic ovary syndrome risk.

Polycystic ovary syndrome is one of the most frequently encountered endocrine malfunctions. Methylenetetrahydrofolate reductase (MTHFR) plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and the risk of polycystic ovary syndrome in a Chinese population. We recruited 244 patients and 257 control subjects from an Inner Mongolian Medical University to this hospital-based, case-control study. The genotyping of the MTHFR C677T and A1298C polymorphisms was carried out using polymerase chain reaction coupled with restriction fragment length polymorphism. Using multiple logistic regression analysis, we found that the TT genotype and the T allele of MTHFR C677T carriers showed increased risk of polycystic ovary syndrome compared with the wild-type genotype or allele carriers. The adjusted ORs for the TT genotype and the T allele of MTHFR C677T were 1.84 (1.05-3.26) and 1.38 (1.06-1.81), respectively. Subjects carrying the CC genotype (OR = 3.98, 95%CI = 1.60-11.23) and the C allele (OR = 1.46, 95%CI = 1.07-2.00) of MTHFR A1298C had an elevated risk of polycystic ovary syndrome compared with the AA genotype and A allele carriers. In conclusion, our study suggests that the MTHFR C677T and A1298C polymorphisms may have contributed to the risk of polycystic ovary syndrome in the Chinese women investigated. Further research involving a greater number of individuals is warranted to confirm our results.

Treatments of caesarean scar pregnancy and the corresponding results in ten years.

OBJECTIVE: The purpose of this essay is to explore the treatments of caesarean scar pregnancy and the corresponding results during the past ten years. PATIENTS AND METHODS: There were 56 cases of caesarean scar pregnancy in the past ten years which were divided into two groups. Group A included 22 cases in the first five years from January 2004 to December 2008, and group B had 34 cases in the last five years from January 2009 to December 2013. Analysis and statistical treatments are performed according to the comparison of the general state, severity, therapeutic condition and results in both groups. RESULTS: We found that the operation rate of group A is lower than that of group B while the average hospitalization and follow-up time of group A are longer than that of group B. The re-hospitalization rate of group A is 22.73% (5/22) and is higher than 11.76% of group B (4/34). The vagina bleeding rate of group A is 27.27% (6/22) and is higher than 2.94% of group B (1/34). CONCLUSIONS: With the increasingly deep-rooted concept of minimally invasive technique in gynecology, minimally invasive therapy becomes increasingly popular for the treatment of caesarean scar pregnancy. The advantages include short treatment period and follow-up time and safe therapy which to some extent reduces the burden and mental pressure of patients.

Usefulness of DuoPAP in the treatment of very low birth weight preterm infants with neonatal respiratory distress syndrome.

OBJECTIVE: This study examined the usefulness of nasal Duo positive airway pressure (DuoPAP) in the treatment of very low birth weight preterm infants with neonatal respiratory distress syndrome (NRDS). PATIENTS AND METHODS: Eighty-five very low birth weight preterm infants with NRDS were randomly divided into two groups. Forty-five infants were treated with DuoPAP, while 40 infants were treated using nasal continuous positive airway pressure (nCPAP). The study outcomes were pH, PaCO, PaO2, oxygenation index (PaO2/FiO2), and the number of failure cases at 1, 12, and 24 hours after non-invasive respiratory support. RESULTS: At all studied time points, after non-invasive respiratory support, PaCO2, PaO2 and oxygenation index were significantly (p < 0.05) better in the nasal DuoPAP group compared with nasal CPAP group. In addition, rates of failure of assisted ventilation (respectively, 4.44% vs. 22.50%) and the occurrence of apnea (13.33% vs. 32.50%) were significantly (p < 0.05) better in the nasal DuoPAP group. Other parameters (such as duration of noninvasive ventilation, number of retinopathies of premature children, intraventricular hemorrhages, or periventricular leukomalacias) were comparable between both non-invasive regimen. CONCLUSIONS: Nasal DuoPAP better improves oxygenation, reduces CO2 retention, and diminishes the need for invasive mechanical ventilation and complications in the treatment of NRDS.

Detection of soluble expression and in vivo interactions of the inner membrane protein OppC using green fluorescent protein.

In this study, the in vivo interaction system of oligopeptide permease (Opp) proteins was analyzed, and a high expression system of inner membrane protein OppC was constructed by flexible usage of the green fluorescent protein (GFP). The Escherichia coli OppC gene, which encodes a transmembrane component of oligopeptide transporter, was cloned into different vectors. Recombinant plasmids were transformed into different E. coli strains, and the expression conditions were optimized. The effect of plasmids and expression strains on OppC production was evaluated by in-gel and western blot analyses. OppC produced by the pWaldo-GFPe vector, harboring the GFP reporter gene, transformed into E. coli C43(DE3) provided sufficient functional protein for biochemical and biophysical studies. In vivo protein-protein interactions were detected among oligopeptide permease proteins using a GFP fragment reassembly protocol. The substrate binding protein OppA showed no interaction with the other components, while the ATP-binding component OppD did not interact with OppF. OppD and OppF interacted with the transmembrane components OppB and OppC. OppB also showed direct interaction with OppC. In vivo OppC functionality was determined by constructing an OppC gene deletion strain. OppC was shown to be essential for peptide uptake, and non-essential for cell viability. These results could help in elucidating the oligopeptide transport mechanism in bacteria.