Prenatal chromosomal microarray analysis and karyotyping in fetuses with isolated choroid plexus cyst: A retrospective case-control study.

Objectives: To evaluate the the diagnostic yield of chromosomal microarray analysis (CMA) in fetuses with isolated CPC (iCPC).

Methods: A total of 315 fetuses with iCPC (iCPC group) and 364 fetuses without abnormal ultrasound findings (control group) were recruited between July 2014 to March 2018.

Results: The overall diagnostic yield of chromosomal abnormalities by CMA and karyotyping in iCPC group was up to 4.

Metabolomics analyses of serum metabolites perturbations associated with Naja atra bite.

Naja atra bite is one of the most common severe snakebites in emergency departments. Unfortunately, the pathophysiological changes caused by Naja atra bite are unclear due to the lack of good animal models. In this study, an animal model of Naja atra bite in Guangxi Bama miniature pigs was established by intramuscular injection at 2 mg/kg of Naja atra venom, and serum metabolites were systematically analyzed using untargeted metabolomic and targeted metabolomic approaches.

Molecular characterisation of Hb Akron [β52 (D3) Asp→Val] combined with thalassaemia in a Chinese family.

Aims: Hb Akron (HBB:c.158A>T) is a rare β-chain variant and many characteristics about its clinical features still remain unclear. In this study, we aimed to explore the molecular and haematological characterisations of previously undescribed states for Hb Akron associated with different forms of thalassaemia.

Serum metabolomics of Bama miniature pigs bitten by Bungarus multicinctus.

Bungarus multicinctus is one of the top ten venomous snakes in China, and its bite causes acute and severe diseases, but its pathophysiology remains poorly elucidated. Thus, an animal model of Bungarus multicinctus bite was established by intramuscular injection of 30μg/kg of Bungarus multicinctus venom, and then the serum metabolites were subsequently screened, identified and validated by ultra-performance liquid chromatography-quadrupole-time of flight-mass spectrometry (UPLC-Q-TOF-MS) methods to explore the potential biomakers and possible metabolic pathways. Untargeted metabolomics analysis showed that 36 and 38 endogenous metabolites levels changed in ESI+ and ESI-, respectively, KEGG pathway analysis showed that 5 metabolic pathways, including mineral absorption, central carbon metabolism in cancer, protein digestion and absorption, aminoacyl-tRNA biosynthesis and ABC transporters might be closely related to Bungarus multicinctus bite.

Validation and functional analysis of the critical proteins in combination with taurine, epigallocatechin gallate and genistein against liver fibrosis in rats.

In our previous works, we highlight nine candidates (Cathepsin D, Lamp1, Tpi1, Fgb, FVII, Mst4, CDK4, Hdgf and Glud1) that might be key proteins of combination therapy anti-fibrosis in rats. In this research, in order to verify the function of candidates, gene or protein expression of the nine candidates was verified by Western blot and RT-qPCR, and enzyme-linked immunosorbent assay in vitro and vivo. The expression of Fgb, Tpi1, CDK4, Mst4 and FVII significantly changed and matched with previous results after combination treating fibrosis rats or hepatic stellate cells (HSCs).

[YAP/TAZ regulates multiple signal pathways in the genesis and development of hepatic fibrosis].

Hepatic fibrosis is a repair response to liver injury, and hepatic stellate cell activation is the center of hepatic fibrosis, which involves Hippo, Notch, Wnt/β-catenin, and TGF-β/Smad signaling pathways. YAP/TAZ is an important nucleus factor for Hippo tumor suppressor pathway and its activity is the key to the growth of whole organs, cell proliferation, and specific amplification of progenitor cells in the process of tissue renewal and regeneration. As the hub of signaling pathways, such as Hippo, Notch, Wnt/β-catenin, TGF-β/Smad signaling, YAP/TAZ regulates the genesis and development of liver fibrosis.