Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China.

Background: Cell-free fetal DNA (cffDNA) has opened up new approaches for non-invasive prenatal testing (NIPT), and it is often used as the second-tier test for high-risk pregnant women in detecting trisomy (T) 21, T18, and T13 after serum biochemistry screening. This study aims to discuss the clinical performance of NIPT as an alternative first-tier screening test for pregnant women in detecting T21, T18, T13, and sex chromosome aneuploidies (SCAs) in China.

Methods: A total of 42,924 samples were recruited.

A Faster and Simpler Operation Method for Laparoscopic Inguinal Hernia Repair in Children.

Inguinal hernias (IHs) are common in infants and children. The key step in inguinal hernia repair is high ligation of the hernia sac. The current main treatment methods for IHs are open and laparoscopic surgery.

[Application of sustained lung inflation in preterm infants with a gestational age of <34 weeks: a Meta analysis].

Objective: To systematically review the effect of sustained lung inflation (SLI) in preterm infants with a gestational age of <34 weeks.

Methods: PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure, Wanfang Database, China Biology Medicine disc, Chinese Journal Full-text Database, and Weipu Database were searched for randomized controlled trials (RCTs) on the application of SLI versus noninvasive positive pressure ventilation alone in preterm infants. Revman 5.

[Safety evaluation on different ventilation strategies set for neonatal respiratory distress syndrome: a network Meta-analysis].

To evaluate the relative safety of different ventilation methods regarding mortality and rates of complication, on neonatal respiratory distress syndrome (NRDS). Network Meta-analysis was used to collect data on randomized controlled trials of pulmonary ventilation strategies in preterm infants with a mean gestational age of less than 32 weeks. Diagnostic criteria on NRDS were published in the PubMed, Cochrane, Web of Science, EBSCO, and Springer Link databases from January 1986 to June 2018.

Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (AT>AT or : c.3G>C).

Although mutations causing α-thalassemia (α-thal) are mainly larger deletions involving one or both of the duplicated α-globin genes, point mutations are not rare. We have identified a novel mutation of the translation initiation codon of the α2-globin gene with DNA sequencing and allele-specific multiplex ligation-dependent probe amplification (MLPA) in a Chinese family. RNA analysis was performed with reverse transcription-MLPA (RT-MLPA).

MicroRNA-34a suppresses the invasion and migration of colorectal cancer cells by enhancing EGR1 and inhibiting vimentin.

MicroRNAs (miRNAs/miRs) are small non-coding RNAs that serve a post-transcriptional regulatory role in eukaryotes. Previous studies have demonstrated that the expression of miR-34a in colorectal cancer (CRC) tissues is decreased compared with that in normal colorectal tissues. However, the role of miR-34a in the invasion and metastasis of CRC remains unclear.

Polymorphisms of α-Globin Genes Compromise Polymerase Chain Reaction-Based α-Thalassemia Genotyping in Three Chinese Families.

In practice, gap-polymerase chain reaction (gap-PCR) and reversed dot-blot are the two most frequently used molecular diagnostic methods for α-thalassemia (α-thal) genotyping. Here, we describe three Chinese individuals from three unrelated families in whom a polymorphism on the α-globin gene cluster led to diagnostic pitfalls. During general molecular diagnosis of thalassemia, three individuals with unexplained results were found.

Hb H Disease Results from Compound Heterozygosity of - - and -α in a Chinese Family.

The α-thal deletion of 3.557 kb (NG_000006.1: g.

Genetic screening involving 101 hot spots for neonates not passing newborn hearing screening and those random recruited in Dongguan.

In order to investigate essential molecular causes for hearing loss and mutation frequency of deafness-related genes, 1315 newborns who did not pass the Newborn Hearing Screening (NHS) (audio-no-pass) and 1000 random-selected infants were subjected to detection for 101 hotspot mutations in 18 common deafness-related genes. Totally, 23 alleles of 7 deafness genes were detected out. Significant difference (χ = 25.

The Gene Mutation Spectrum of Breast Cancer Analyzed by Semiconductor Sequencing Platform.

To use the semiconductor sequencing platform (SSP) to analyze the gene mutate spectrum of breast cancer patients. We recruited 46 breast cancer patients, and detected the ER/PR/HER2 expression level of the tumor tissue by immunohistochemistry. In addition, combined with SSP technology, we detected 207 hot mutation regions of 50 breast cancer related genes with multiple polymerase chain reaction (PCR) technology.

The mechanisms and clinical significance of PDCD4 in colorectal cancer.

In recent years, the incidence and mortality of colorectal cancer (CRC) have been on a global upward trend. There is an urgent need for effective tools to prevent and treat CRC and reduce morbidity and mortality of CRC patients. Recent evidence suggests that programmed cell death 4 (PDCD4), a novel tumor suppressor gene, inhibits tumor progression at transcriptional and translational levels and regulates multiple signal transduction pathways.

Molecular and Hematological Characterization of Two Novel δ-Globin Gene Mutations Found in Chinese Individuals.

We identified two novel δ-globin gene mutations in two families during routine thalassemia screening. One missense mutation at codon 73 on the δ-globin gene [δ73(E17)Asp→Val, HBD: c.221A>T] which results in a Hb A variant homologous to the β-globin gene variant called Hb Mobile [β73(E17)Asp→Val, HBB: c.

Association of PON1 gene polymorphisms with polycystic ovarian syndrome risk: a meta-analysis of case-control studies.

Purpose: Evidences showed that paraoxonase 1 (PON1) gene polymorphism has an impact on women's susceptibility to polycystic ovarian syndrome (PCOS) by influencing the expression and activity of PON1. However, the effects of three PON1 polymorphisms (- 108 C>T, L55M and Q192R) on the incidence of PCOS have generated inconsistent results. Here, we conducted a meta-analysis to investigate the association between PON1 polymorphisms and PCOS risk.

Effects of sevoflurane on NF-кB and TNF-α expression in renal ischemia-reperfusion diabetic rats.

Background: Ischemia-reperfusion (I/R) injury is the main reason of acute renal failure. However, inflammatory response and cell apoptosis are important mechanisms implicated in I/R injury. Recent studies indicated that nuclear factor kappa B (NF-кB) and tumor necrosis factor α (TNF-α) are both involved in these mechanisms.

A randomised controlled trial in comparing maternal and neonatal outcomes between hands-and-knees delivery position and supine position in China.

Background: the supine position is the most frequently offered for birth delivery in China and many other countries, but the hands-and-knees position is now gaining prominence with doctors in China. This study aims to examine the differences in maternal and neonatal outcomes among low-risk women who gave birth either in the hands-and-knees position or the supine position.

Methods: a randomised controlled trial was conducted in 11 hospitals in China from May to December in 2012.

Rapid and simultaneous detection of common aneuploidies by quadruplex real-time polymerase chain reaction combined with melting curve analysis.

Background: During the prenatal period, the number variation of chromosomes 13, 18, 21, X and Y accounts for more than 80% of the clinically significant chromosomal abnormalities diagnosed. Rapid tests for prenatal diagnosis of these abnormalities can improve pregnancy management and alleviate parental anxiety. Here, we present a molecular alternative method for detecting common aneuploidies.

The effects of resveratrol intervention on risk markers of cardiovascular health in overweight and obese subjects: a pooled analysis of randomized controlled trials.

Background: Potential effects of resveratrol consumption on cardiovascular disease risk factors and body weight in overweight/obese adults have not been fully elucidated. Our present analysis was to evaluate the effects of resveratrol consumption on risk markers related to cardiovascular health in overweight/obese Individuals.

Methods: Multiple literature databases were systematically searched, and 21 studies were included.

Rapid detection of α-thalassaemia alleles of --(SEA)/, -α(3.7)/ and -α(4.2)/ using a dual labelling, self-quenching hybridization probe/melting curve analysis.

Objectives: The aim of the study was to set up an alternative automatic molecular diagnostic method for deletional α-thalassaemia mutations without gel electrophoresis.

Methods: Based on the sequence variation within the two Z boxes and melting curve analysis of dually labelled probes, a real-time PCR assay was developed and validated for the rapid detection of major α-genotypes (--(SEA)/αα, --(SEA)/-α(3.7), --(SEA)/-α(4.

Exome sequencing identifies mutations in ABCD1 and DACH2 in two brothers with a distinct phenotype.

Background: We report on two brothers with a distinct syndromic phenotype and explore the potential pathogenic cause.

Methods: Cytogenetic tests and exome sequencing were performed on the two brothers and their parents. Variants detected by exome sequencing were validated by Sanger sequencing.

DNA hypermethylation and X chromosome inactivation are major determinants of phenotypic variation in women heterozygous for G6PD mutations.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked incompletely dominant enzyme deficiency that results from G6PD gene mutations. Women heterozygous for G6PD mutations exhibit variation in the loss of enzyme activity but the cause of this phenotypic variation is unclear. We determined DNA methylation and X-inactivation patterns in 71 G6PD-deficient female heterozygotes and 68 G6PD non-deficient controls with the same missense mutations (G6PD Canton c.