Atypical deletion of Williams-Beuren syndrome reveals the mechanism of neurodevelopmental disorders.

Genes associated with specific neurocognitive phenotypes in Williams-Beuren syndrome are still controversially discussed. This study identified nine patients with atypical deletions out of 111 patients with Williams-Beuren syndrome; these deletions included seven smaller deletions and two larger deletions. One patient had normal neurodevelopment with a deletion of genes on the distal side of the Williams-Beuren syndrome chromosomal region, including GTF2I and GTF2IRD1. However, another patient retained these genes but showed neurodevelopmental abnormalities. By comparing the genotypes and phenotypes of patients with typical and atypical deletions and previous reports in the literature, we hypothesize that the BAZ1B, FZD9, and STX1A genes may play an important role in the neurodevelopment of patients with WBS.

Overexpression of hsa_circ_0001445 reverses oxLDL­induced inhibition of HUVEC proliferation via SRSF1.

Atherosclerosis is a primary cause of multiple types of cardiovascular disease, including myocardial infarction. In addition, injury of human umbilical vein endothelial cells (HUVECs) can lead to the development of atherosclerosis. Circular (circ)RNAs participate in atherosclerosis. It has previously been shown that circRNA cSMARCA5 (hsa_circ_0001445) expression is downregulated in atherosclerosis. However, the effects of hsa_circ_0001445 on the proliferation of HUVECs remain unclear. In order to mimic atherosclerosis in vitro, HUVECs were treated with oxidized low­density lipoprotein (oxLDL). The expression levels of specific genes and proteins were detected in HUVECs by reverse transcription­quantitative PCR and western blot analysis, respectively. Cell proliferation was assessed by Cell Counting Kit­8 and 5­Ethynyl­2'­deoxyuridine staining. Cell apoptosis and 5,5',6,6'­Tetrachloro­1,1',3,3'­tetraethyl­imidacarbocyanine staining were examined by flow cytometry. In addition, the association between hsa_circ_0001445 and serine/arginine­rich splicing factor 1 (SRSF1) was investigated by RNA pull­down assay. hsa_circ_0001445 expression was downregulated in oxLDL­treated HUVECs. Moreover, oxLDL­induced inhibition of HUVEC proliferation was significantly reversed by overexpression of hsa_circ_0001445. oxLDL notably inhibited tube formation and mitochondrial membrane potential in HUVECs, while these effects were markedly reversed by hsa_circ_0001445 overexpression. Furthermore, overexpression of hsa_circ_0001445 reversed oxLDL­induced activation of ß­catenin by binding to SRSF1. Collectively, these data demonstrated that overexpression of hsa_circ_0001445 reversed oxLDL­induced inhibition of HUVEC proliferation via activation of the SRSF1/ß­catenin axis. These findings may provide novel targets for the treatment of atherosclerosis.

Effect of N-acetyl cysteine and glycine supplementation on growth performance, glutathione synthesis, and antioxidative ability of grass carp, Ctenopharyngodon idella.

An 8-week feeding trial was conducted to evaluate the effect of N-acetyl cysteine (NAC) and glycine supplementation on growth performance, glutathione (GSH) synthesis, and antioxidative ability of grass carp, Ctenopharyngodon idella. Four practical diets were formulated: control, control + 0.2% NAC, control + 0.5% glycine, and control + 0.2% NAC + 0.5% glycine. Each diet was randomly assigned to quadruplicate groups of 30 fish (approximately 8.8 g). Weight gain and specific growth rate were significantly increased with the supplementation of NAC. Supplementation of NAC plus glycine significantly increased the feed efficiency. Glutathione peroxidase (GPx) and γ-glutamine cysteine synthase (γ-GCS) in plasma were significantly increased with the supplementation of NAC plus glycine. GSH in plasma increased and malondialdehyde (MDA) decreased in fish fed diets supplemented with NAC. Respiratory burst, superoxide dismutase (SOD), and catalase (CAT) activity were not affected by NAC or glycine. These results clearly indicated that NAC improved the growth performance and restored GSH of grass carp, supplemented NAC together with glycine enhanced GSH synthesis, and improved the antioxidative ability of grass carp.

Accurate potential energy functions, non-adiabatic and spin-orbit couplings in the ZnH(+) system.

A high-level ab initio calculation on the ZnH(+) cation has been carried out with the multi-reference configuration interaction method plus Davison correction (MRCI+Q). The scalar relativistic effect is included by using the Douglas-Kroll-Hess (DKH) method. The calculated potential energy curves (PECs) of the 7 Λ-S states are associated with the dissociation limits of Zn(+)((2)Sg)+H((2)Sg), Zn((1)Sg)+H(+)((1)Sg), and Zn(+)((2)Pu)+H((2)Sg), respectively (The Λ-S state is labeled as (2S+1)Λ, in which Λ is the quantum number for the projection along the internuclear axis of the total electronic orbital angular momentum and S is the total electron spin). The spectroscopic constants of the bound states are determined and in good agreement with the available theoretical and experimental results. The permanent dipole moments (PDMs) of Λ-S states and the spin-orbit (SO) matrix elements between Λ-S states are also computed. The results show that the abrupt changes of the PDMs and SO matrix elements come into being for the reason of the avoided crossing between the states with the same symmetry. In addition, the non-adiabatic couplings matrix elements between Λ-S states are also evaluated. Finally, the spin-orbit couplings (SOCs) for the low-lying states are considered with Breit-Pauli operator. The SOC effect makes the 7 Λ-S states of the ZnH(+) cation split into 12 Ω states (Ω=Λ+Sz, in which Sz is projection of the total electron spin S along the internuclear Z-axis). For the (3)0(+) state, the two energy minima exhibit in the potential, which could be attributed to the formation of the new avoided crossing point. The transition dipole moments (TDMs), Franck-Condon factors, and the radiative lifetimes of the selected transitions (2)0(+)-X0(+), (3)0(+)-X0(+), (2)1-X0(+) and (3)1-X0(+) have been reported.

Dietary lipid requirement on non-specific immune responses in juvenile grass carp (Ctenopharyngodon idella).

This study aimed to evaluate the dietary lipid requirement and its effects on liver oxidative status and non-specific immune responses of juvenile grass carp (Ctenopharyngodon idella). Purified diets with five dietary lipid levels (0%, 2.5%, 5%, 7.5% and 10%, fish oil/corn oil = 1:1) were each fed to triplicate groups of grass carp (mean initial weight: 6.57 ± 0.01 g) in a recirculating rearing system maintained at 27.5 ± 0.5 °C for 10 weeks. Percent weight gain was highest (P < 0.05) with 5% lipid and lowest in fish fed the lipid free control diet. Feed efficiency (FE) and protein efficiency ratio (PER) in fish followed the same pattern of percent weight gain. Fish fed with lipid containing diets had better non-specific immune response indexes (e.g. phagocytic activity, plasma peroxidase and lysozyme activity) and low-level of liver oxidation status than fish fed with the control diet. But excess dietary lipid supplement would bring over metabolic burden to liver. After the feeding trial, fish were challenged by Aeromonas hydrophila. Fish fed control diet obtained significantly (P < 0.05) lower survival rate. The survival rate was highest with 7.5% lipid. The results of this study indicated that proper dietary lipid supplementation enhanced the immune response of grass carp and improved the survival rate in the bacterial challenge, but excess dietary lipid may elevate liver oxidation rates of grass carp. Analysis by second-order regression of percent weight gain indicated that the optimal dietary lipid level in juvenile grass carp (6.6-35.5 g) is about 6.5%.

Dietary taurine can improve the hypoxia-tolerance but not the growth performance in juvenile grass carp Ctenopharyngodon idellus.

This study was conducted to evaluate the effects of dietary taurine, as a feed additive, on the hypoxia-tolerance and growth performance of the juvenile grass carp Ctenopharyngodon idellus, one of the most important and intensively cultured freshwater fish, with the largest production in China. Graded levels of taurine (0, 0.5, 1, 1.5, 2 and 2.5 g kg(-1) dry diet) were fed to grass carp juveniles (mean weight: 5.26 ± 0.03 g) for 8 weeks. The survival time during acute hypoxia increased as dietary levels of taurine increased, with the highest dose of taurine resulting in the best acute hypoxia-tolerance. The erythrocyte osmotic fragility in grass carp was significantly improved when dietary taurine level was at least 1.5 g kg(-1) diet and can be improved much more when dietary taurine level was up to 2.5 g kg(-1) diet. A significant correlation between hemolysis rate of the erythrocyte osmotic fragility test and the survival time of acute hypoxia (r = -0.873, P = 0.023 < 0.05) strongly suggested that the biomembrane stabilization function of taurine may contribute to its role of enhancing acute hypoxia-tolerance in grass carp. Dietary taurine cannot improve growth performance of grass carp, but it can increase the value of mesenteric fat index, indicating that dietary taurine influences the lipid metabolism. This study provides valuable information to improve hypoxia-tolerance of grass carp.

Effect of dietary vitamin E and selenium supplementation on growth, body composition, and antioxidant defense mechanism in juvenile largemouth bass (Micropterus salmoides) fed oxidized fish oil.

Six oxidized fish oil contained diets were formulated to investigate the effect of graded levels of vitamin E (V(E)) (α-tocopherol acetate: 160, 280, and 400 mg kg(-1)) associated with either 1.2 or 1.8 mg kg(-1) selenium (Se) on growth, body composition, and antioxidant defense mechanism of juvenile largemouth bass. Another control diet containing fresh fish oil with 160 mg kg(-1) V(E) and 1.2 mg kg(-1) Se was also prepared. Over a 12-week feeding trial, about 5 % of Micropterus salmoide fed diet OxSe1.2/V(E)160 showed inflammation and hemorrhage symptoms at the base of dorsal, pectoral, and tail fin. Fish in all treatments survived well (above 90 %). Feed intakes (88.42-89.58 g fish(-1)) of all treatments were comparable. Growth performances (weight gain and specific growth rate) and feed utilization (feed and protein efficiency ratio) were significantly impaired by dietary oil oxidation, and they did not benefit from neither V(E) nor Se supplementation. Regardless of dietary V(E) and Se supplementation, oxidized oil ingestion resulted in markedly decreased hepatosomatic index and intraperitoneal fat ratio. Oxidized oil ingestion also induced markedly lower liver and muscle lipid contents, and these effects could be alleviated by dietary Se supplementation. Dietary oil oxidation stimulated hepatic catalase activities relative to the control, and supplementation of V(E) abrogated this effect. Hepatic reduced glutathione content in the control was markedly higher than that of treatment OxSe1.2/V(E)160, without any significant differences comparing with the other oxidized oil receiving groups. Hepatic glutathione peroxidase activity and liver Se concentration reflected dietary Se profile, whereas liver V(E) level reflected dietary V(E) profile. Compared with the control, fish fed diet OxSe1.2/V(E)160 obtained markedly higher serum, liver and muscle malondialdehyde contents, which droppe significantly with increasing either V(E) or Se supplementation. In conclusion, the overall results in this study suggested that both V(E) and Se inclusion could protect largemouth bass from the oxidative damage challenged by dietary oil oxidation.

Excess dietary cholesterol may have an adverse effect on growth performance of early post-larval Litopenaeus vannamei.

One experiment was conducted to determine the nutritive value of cholesterol for post-larval shrimp, Litopenaeus vannamei. Four isoenergetic and isonitrogenous diets supplemented with four levels of cholesterol (D1, D2, D3 and D4 with 0, 0.5%, 1% and 2% cholesterol, respectively) were fed to triplicate groups of L. vannamei shrimp (mean initial wet weight 0.8 mg) for 27 days. After the trial, shrimp fed the D1 diet had the best growth performance (final body weights: FBW; weight gain: WG; specific growth rate: SGR), while there was no significant difference between diet treatments with respect to survival. The whole body crude protein level in the shrimp decreased with the increase in dietary cholesterol levels, while the whole body crude lipid level in shrimps in the D4 diet treatment was significantly higher (P < 0.05) than in other diet treatments. Dietary analysis indicated that the D1 diet contained 0.92% cholesterol prior to supplementation, which may have satisfied the dietary cholesterol requirement of post-larval L. vannamei; excess dietary cholesterol may thus lead to adverse effects on the growth performance of post-larval shrimp.

Effects of dietary mannan oligosaccharide on growth performance, gut morphology and stress tolerance of juvenile Pacific white shrimp, Litopenaeus vannamei.

An 8-week feeding trial was conducted to investigate the effects of dietary mannan oligosaccharide (MOS) on growth performance, gut morphology, and NH(3) stress tolerance of Pacific white shrimp Litopenaeus vannamei. Juvenile Pacific white shrimp (1080 individuals with initial weight of 2.52 ± 0.01 g) were fed either control diet without MOS or one of five dietary MOS (1.0, 2.0, 4.0, 6.0 and 8.0 g kg(-1)) diets. After the 8-week feeding trial, growth parameters, immune parameters, intestinal microvilli length and resistance against NH(3) stress were assessed. Weight gain (WG) and specific growth rate (SGR) were significantly higher (P < 0.05) in shrimp fed 2.0, 4.0, 6.0 and 8.0 g kg(-1) MOS-supplemented diets than shrimp fed control diet. WG and SGR of shrimp fed 2.0 g kg(-1) MOS-supplemented diet was the highest (P < 0.05) in all experimental groups. Survival rate (SR) of shrimp was generally similar (P > 0.05) in all experimental groups. Compared with control group, TEM analysis revealed that 2.0, 4.0, 6.0 and 8.0 g kg(-1) MOS supplementation could significantly increase (P < 0.05) the intestinal microvilli length of shrimp at the ultrastructural level. After NH(3) stress for 24 h, SR of shrimp fed 2.0, 4.0, 6.0 and 8.0 g kg(-1) MOS-supplemented diets was significantly higher (P < 0.05) than that of shrimp fed control diet. Phenoloxidase (PO) activity of 4.0 g kg(-1) MOS-supplemented group was significantly higher (P < 0.05) than that of control group under normal conditions and NH(3) stress. PO activity significantly decreased (P < 0.05) under NH(3) stress than under normal conditions. Superoxide dismutase (SOD) activity of 4.0, 6.0 and 8.0 g kg(-1) MOS-supplemented groups was significantly higher (P < 0.05) than that of control group under normal conditions. After NH(3) stress for 24 h, SOD activity of all experimental groups also significantly decreased (P < 0.05) compared to normal conditions. These results clearly indicated that dietary MOS could improve growth performance and increase the resistance against NH(3) stress in L. vannamei, and the 2.0-4.0 g kg(-1) MOS supplementation was suitable for L. vannamei.