The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases.

Expanded carrier screening (ECS) based on next-generation sequencing has been the subject of few studies to estimate the effectiveness of ECS in the Chinese population. A total of 3737 individuals from Southwest China or the general Chinese population, including 1048 pairs and 1641 individuals, were analysed by ECS for 155 monogenetic diseases. An ECS panel was used to detect 147 genes and 10,449 variants in 145 autosomal recessive and 10 X-linked recessive disorders.

Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.

Background: Rare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling.

Results: Here, we report a newborn with congenital heart disease and developmental delay who inherited ring chromosome 6 [46,XY,r(6)(p25q27)mat] from a phenotypically normal mother. Genotypes and phenotypes were analysed by molecular cytogenetic analysis, whole-exome sequencing and literature review.

[Prenatal diagnosis and genetic analysis of a fetus with der(X)t(X;Y)(p22.3;q11.2)].

Objective: To explore the pathogenesis and genetic characteristics of a fetus with a der(X)t(X;Y)(p22.3;q11.2) karyotype.

Ampelopsin-sodium induces apoptosis in human lung adenocarcinoma cell lines by promoting tubulin polymerization .

Previous studies have demonstrated that ampelopsin (AMP), a type of flavonoid isolated from the stems and leaves of , exhibits anti-cancer activity in various types of cancer. Conversion of AMP into its sodium salt (AMP-Na) conferred enhanced solubility and stability to it. The present study aimed to evaluate the anti-cancer activity of AMP-Na in human lung adenocarcinoma cell lines and to investigate its mechanisms of action.

Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned.

Prader‑Willi syndrome (PWS), a complicated neurodevelopmental disorder arising from errors in genomic imprinting, is characterized by evident hypotonia along with feeding difficulties and the absence of crying in early infancy. Hyperphagia and obesity are not uncommon in patients with PWS, usually accompanied by intellectual disability, cognitive impairment, short stature, small hands and feet, as well as hypogonadism and typical facial features. Due to the severe complications associated with PWS, a thorough understanding of its features and an early diagnosis, preferably in the fetal period, are important for clinical management.

[Association between Val80 polymorphism of the CYP19 gene, A163G polymorphism of the OPG gene and bone mineral density in post-menopausal Chinese women].

We investigated the association of the G/A polymorphism at Val80 of the cytochrome P450 family 19 (CYP19) gene, the A163G polymorphism of the osteoprotegerin (OPG) gene with bone mineral density (BMD) in 200 randomly selected postmenopausal women in Chongqing. Single nucleotide polymorphisms were detected by polymerase chain reac-tion-restriction fragment length polymorphism (PCR-RFLP). BMD of the proximal femur and lumbar spine (L2-4) was measured by NORLAND XR-46 dual-energy X-ray absorptiometer (DEXA).

Association of CA repeat polymorphism in estrogen receptor beta gene with postmenopausal osteoporosis in Chinese.

Postmenopausal osteoporosis (PMO) is considered a polygenic disease. The estrogen receptor beta (ESR2) gene is a candidate mediating the genetic influence on bone mass and the risk of osteoporosis. The aim of this study is to investigate the association of a cytosine-adenine (CA) repeat polymorphism in the fifth intron of the ESR2 gene with PMO in Chinese Han population.

A rapid reversed phase high-performance liquid chromatographic method for determination of sophoridine in rat plasma and its application to pharmacokinetics studies.

A high-performance liquid chromatography (HPLC) method for determining sophoridine in rat plasma was developed for application in the pharmacokinetic studies. The plasma was deproteinized with acetonitrile that contained an internal standard (ephedrine) and was separated from the aqueous layer by adding sodium chloride and sodium carbonate. The HPLC assay was carried out using a YMC-ODS column.

Changes of soluble fas and soluble fas ligand in serum and peritoneal fluid of infertile patients with endometriosis.

Objective: To evaluate the relationship between levels of soluble Fas (sFas) and soluble Fas ligand (sFasL) in serum and peritoneal fluid of endometriosis-associated infertility.

Methods: The soluble Fas ligand and soluble Fas levels in serum and peritoneal fluid of 20 infertile patients with endometriosis were assessed with enzyme-linked immunosorbent assay, and were compared with 14 infertile patients due to chronic pelvic infectious disease and 16 fertile controls.

Results: The sFasL levels were significantly higher in infertile patients with endometriosis (175.