Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.

Purpose: Emerging studies suggest that low-pass genome sequencing (GS) provides additional diagnostic yield of clinically significant copy-number variants (CNVs) compared with chromosomal microarray analysis (CMA). However, a prospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of low-pass GS compared with CMA is warranted.

Methods: A total of 1023 women undergoing prenatal diagnosis were enrolled.

The effects of perineal disinfection on infant's oral microflora after transvaginal examination during delivery.

Background: Early life microflora is an important determinant of immune and metabolic development and may have lasting consequences. However, the mode of delivery and the effect of povidone iodine disinfection on neonatal oral microflora colonization are still unclear. The objective of the study was to understand the effects of the use of polyvidone iodine on infant's oral microflora after transvaginal examination during delivery, provided data support for the establishment of neonatal oral microflora health.

Epidemiologic features of enterovirus associated with hand, foot and mouth disease in 2013 and 2014 in Shenzhen, China.

Hand, foot and mouth disease (HFMD) is responsible for a heavy economic and social burden in the Asia-Pacific region. Previous studies have shown that coxsackievirus A6 (CVA6) and coxsackievirus A10 (CVA10) have become the predominant agents of HFMD in mainland China in recent years, replacing enterovirus 71 (EV71) and coxsackievirus A16 (CVA16), although it is unclear if this is consistent throughout China. In this study, samples from 253 HFMD cases were collected in Shenzhen, China, from May 2013 through April 2014 to identify the etiological agent of HFMD.

An experimental study of ovarian cancer imaging and therapy by paclitaxel-loaded phase-transformation lipid nanoparticles combined with low-intensity focused ultrasound.

Drug-loaded phase-transformation lipid nanoparticles (NPs) combined with low-intensity focused ultrasound (LIFU) for ultrasound molecular imaging and therapy, which is a very promising drug carrier and can provide both physical and chemical therapeutics, simultaneously. We successfully prepared the paclitaxel (PTX) loaded anti-LHRHR targeted phase-transformation lipid nanoparticles (PTX-anti-LHRHR-PTNPs) for ovarian cancer in this study combined with LIFU has the following characteristics: On the one hand, it showed smaller size and greater stability than blood cells, which significantly prolonged its half-life in the body, and can actively target ovarian cancer OVCAR-3 cells, and smoothly penetrate the endothelial gap into the tumor site for specifically killing the ovarian cancer cells. Thereby, the special drug carrier improved the therapeutic effect and reduced toxic and side effects, maximized the protection of normal tissues and minimized adverse reactions.

Hypermethylated ERG as a cell-free fetal DNA biomarker for non-invasive prenatal testing of Down syndrome.

Background: Previous reports have shown that the ERG gene is hypermethylated in the placenta and hypomethylated in maternal blood cells. In this study, we explore the feasibility of hypermethylated ERG as a cell-free fetal (cff) DNA biomarker for non-invasive prenatal testing (NIPT) of Down syndrome.

Methods: We randomly selected 90 healthy pregnant women, including 30 cases at each trimester of pregnancy.

[Effects of hepatitis B virus on human semen parameters and sperm DNA integrity].

Objective: To investigate the effects of hepatitis B virus (HBV) in semen on human semen parameters and sperm DNA integrity.

Methods: We detected HBV DNA in the semen samples of 153 HBsAg-seropositive patients by real-time fluorescence quantitative PCR and calculated the sperm nuclear DNA fragmentation index (DFI) by sperm chromatin dispersion (SCD) assay. We compared the semen parameters between the HBV DNA-positive group (A, n = 43) and HBV DNA-negative group (B, n = 110) and analyzed the correlation of sperm DFI with the number of HBV DNA copies in the semen.

Multiplex PCR targeting slpA: a rapid screening method to predict common Clostridium difficile ribotypes among fluoroquinolone resistant clinical strains.

Aims: Based on the relationship between Clostridium difficile surface layer protein A (slpA) sequence types (STs) and PCR-ribotypes (RTs), a multiplex polymerase chain reaction (mPCR) assay was developed to rapidly confirm C. difficile toxigenicity and, simultaneously, to identify any of five slpA STs, gr, hr, fr, gc8 and 078, that usually correspond with globally distributed RTs, 001, 014, 017, 027 and 078, respectively.

Methods: The mPCR, containing five slpA type-specific primers, was developed using 46 well-characterised C.

Comparison of two capillary gel electrophoresis systems for Clostridium difficile ribotyping, using a panel of ribotype 027 isolates and whole-genome sequences as a reference standard.

PCR ribotyping is the most commonly used Clostridium difficile genotyping method, but its utility is limited by lack of standardization. In this study, we analyzed four published whole genomes and tested an international collection of 21 well-characterized C. difficile ribotype 027 isolates as the basis for comparison of two capillary gel electrophoresis (CGE)-based ribotyping methods.

[Diagnostic value of p16INK4a in squamous intraepithelial lesion in gynecologic cytology].

Objective: To study the diagnostic value of p16(INK4a) in squamous intraepithelial lesion in gynecologic cytology and its relationship with types of human papillomavirus (HPV).

Methods: 88 liquid-based gynecologic cytology cases with histologic correlation, including 20 cases of cervicitis, 18 cases of low-grade squamous intraepithelial lesion (LSIL), 34 cases of high-grade squamous intraepithelial lesion (HSIL) and 16 cases of squamous cell carcinoma (SCC), were enrolled into the study. Immunocytochemistry for p16(INK4a) protein and polymerase chain reaction-based HPV DNA testing (for HPV types 16, 18, 31, 33, 35, 39, 45, 51, 52, 53, 56, 58, 59, 66 and 68, as well as HPV types 6, 11, 42, 43 and 44) were performed.