Novel compound heterozygous mutation in causes complex congenital heart disease.

Congenital heart disease (CHD) is the most common birth defect, affecting 2‑8% of newborns, with a marked impact on neonatal health. In the present study, the parents of a fetus diagnosed with CHD were recruited to investigate the genetic causes of this condition. Whole exome sequencing was conducted on tissue obtained from the fetus.

Women with FSHR-inactivating mutations causing resistant ovarian syndrome benefit from oocyte in-vitro maturation.

Research Question: Is in-vitro maturation (IVM) of oocytes effective for treating women with resistant ovarian syndrome (ROS) carrying biallelic FSHR-inactivating mutations?

Design: Three patients with ROS were recruited for this study. Candidate pathogenic mutations were identified using whole-exome sequencing (WES). A cAMP production assay was performed to evaluate the effects of these mutations.

Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes.

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare recessive genetic conditions characterised by developmental delays and an early onset epilepsy caused by disruptions in the glycosylphosphatidylinositol-anchored biosynthetic pathway. In this study, we identified eight variants in phosphatidyl inositol glycan (PIG) genes from four IGDs families through whole-exome sequencing (WES). The variants included one in PIGA, two in PIGW and five in PIGN, with five being novel variants.

[Link between sortase A function and cariogenicity of Streptococcus mutans: a preliminary metabolomics analysis].

Objective: This study intends to explore the mechanism underlying the support of sortase A (SrtA) of the cariogenicity of Streptococcus mutans (S. mutans).

Methods: We performed a metabonomics study based on ¹H nuclear magnetic resonance spectroscopy (NMR), in which we compared the extracellular metabolites of wild-type S.

Upregulation of a Trypsin-Like Serine Protease Gene in Antheraea pernyi (Lepidoptera: Saturniidae) Strains Exposed to Different Pathogens.

Antheraea pernyi Guérin-Méneville is used for silk production and as a food resource. Its infection by exogenous pathogens, including microsporidia, fungi, bacteria, and virus, can lead to silkworm diseases, causing major economic losses. A trypsin-like serine protease gene (TLS) was found in A.

Effect of Fe₂O₃on optical properties of zirconia dental ceramic.

Objectives: To evaluate the effect of Fe₂O₃on the optical properties of yttria-stabilised tetragonal zirconia (Y-TZP) dental ceramic when added, and to determine the correct content required to mimic the natural dentin.

Methods: Disc-shaped Y-TZP specimens (0.50 ± 0.

The effect of cold-light-activated bleaching treatment on enamel surfaces in vitro.

This in vitro study aims to evaluate the crystal and surface microstructure of dental enamel after cold-light bleaching treatment. Twelve sound human premolars were cross-split into four specimens, namely, mesio-buccal (Group LP), disto-buccal (Group P), mesio-lingual (Group NP) and disto-lingual (Group L) specimens. These four groups were treated using the standard cold-light bleaching procedure, a bleaching agent, a peroxide-free bleaching agent and cold-light, respectively.

[Effects of dexamethasone and vitamin B12 on expression of fibroblast growth factor 10 and fibroblast growth factor receptor 2b during early palatogenesis].

Objective: To observe the alteration of fibroblast growth factor 10 (Fgf10) and fibroblast growth factor receptor 2 (Fgfr2b) signal in mouse embryonic palate after dexamethasone and vitamin B12 exposure.

Methods: Dams were divided teratogenetic group, antagomistic group and control group and were respectively injected dexamethasone, dexamethasone and vitamin B12, and normal sodium. Dams were killed and fetus was collected at embryo 12.

[Effect of cold-light bleaching technique on human permanent teeth enamel surface].

Objective: To study the effects of the cold-light bleaching technique on crystals and microstructure of the dental enamel.

Methods: The human premolars extracted for orthodontic reasons were treated by a standard cold-light bleaching procedure. After the treatment, all samples were detected by high resolution micro-area X-ray diffractometer, Fourier transform infrared spectroscope and scanning electron microscope.

[Analyzing the inhibition of vitamin B12 to dexamethasone-induced palatognathous mouse using 1H-nuclear magnetic resonance based metabonomics method].

Objective: Metabonomic analysis has been increasingly used to monitor metabolic abnormalities in cells and their micro-environment in order to detect the biomarkers recently. This study evaluated the feasibility of applying 1H-nuclear magnetic resonance (1H-NMR) based metabonomic method to detect the differences of the early development of cleft palate in the plasma from control group and experimental group.

Methods: Pregnant mice (inbred C57BL/6J strain) with vitamin B12 injected only were assigned as the control group, pregnant mice with excessive Dex, injected after vitamin B12 as the experimental group, each group includes 12 mice.

[A preliminary investigation on plasma of non-syndromic cleft lip and/or palate using nuclear magnetic resonance-based metabonomics].

Objective: To access the feasibility of employing metabonomics method in clinical studies. This pilot study intends to introduce nuclear magnetic resonance (NMR)-based metabonomics method to elucidate the metabolism of non-syndromic cleft lip and/or palate (NSCLP) patients.

Methods: High-resolution 1H NMR spectroscopy was performed on blood plasma obtained from NSCLP and non-malformed children.

[Initial study on the discrimination of oral microorganisms with a metabonomics method].

Objective: To establish the spectra of metabolites that coued be employed in identification of oral pathogenic bacteria, and try to find a convenient and rapid way to discriminate oral microorganisms.

Methods: Suspensions of Streptococcus mutans ATCC 25175, Streptococcus sanguis ATCC 10556 and Lactobacillus acidophilus ATCC 4356 with same density were preparecd and cultured respectively at improved TPY liquid culture medium. The growth quantity were measured periodically by a turbidimeter.

[Initial study on discrimination of oral microorganisms with the metabonomics technique].

Objective: To evaluate the feasibility of employing metabonomics method in identification of oral pathogenic bacteria.

Methods: The Streptococcus mutans ATCC25175 and Actinomyces viscosus ATCC15987 were respectively inoculated in same certain culture medium. The growth curves of the inoculated bacteria were drown by turbidimetry.

[The experimental study on biodegradable gel membrane applied to prevention of postoperative adhesion of abdominal cavity surgery].

Objective: To develop a new type of anti-adhesion gel membrane and explore its applying technique.

Methods: 24 adult New Zealand white rabbits were used for the experiment research project, the animals were divided into two groups: the experiment group (18 adult New Zealand white rabbits) and the control group (6 adult New Zealand white rabbits). The animal models were established via the abdominal cavity.

[IL-10 inhibits inducible expression pattern of beta-defensin-2 in human peripheral blood cells].

Objective: To investigate the effect of IL-10 on the inducibility of human beta-defensin 2 (hBD-2) in human peripheral blood cells.

Methods: Peripheral blood samples were collected from 22 healthy individuals and co-cultured with 0 ng/ml lipopolysaccharide (LPS), 100 ng/ml LPS, 10 ng/ml IL-10, or 100 ng/ml LPS plus 10 ng/ml IL-10 at 37 degree for 6 h. Total RNA was extracted from peripheral blood cells and the mRNA level of hBD-2 was detected by relative quantitative real-time PCR.