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BACKGROUND: Kleefstra syndrome type 1 (KS1, OMIM#610253) is a rare autosomal-dominant Mendelian disorder due to heterozygous mutations in the EHMT1 gene or heterozygous deletion of genomic segment of 9q34.3(9qdel). Neurodevelopmental disorder (NDD), intellectual disability (ID) and childhood-onset hypotonia are the well-known phenotypes of KS1. However, these findings were all investigated based on western patients with KS1. METHODS: KS1 patients were diagnosed by genetic tests. The clinical data was collected and the phenotypes were standardized by compared with patients that previously reported. In silico, conservational and protein structural analysis were performed to assessment the missense variants. RESULTS: Ten patients from unrelated families were diagnosed as KS1, who all had NDD and seven of them had global developmental delay (GDD) with significant personal-social disabilities. Among the ten patients, only one (1/10) patient showed neonatal or infantile obesity. The other nine patients were heterozygous variations, including three missense mutations (p.Glu235Gly, p.Asp903Gly, and p.Leu943Pro), three frameshifting mutations (p.Asn1106Lysfs*71, p.Asn1055Tyrfs*121, and p.Lys288Argfs*20), one nonsense mutation (p.Arg246*), one slice site mutation (c.3540+2T > C) and one 9q34.3 deletion in gene of EHMT1. Furthermore, missense mutations showed potential pathogenicity analyzed by in silico. CONCLUSION: We demonstrated that the clinical features in Chinese patients with KS1 were due to EHMT1 defects. We also reported seven novel variants which enriched the mutation spectrum and provided a good understanding of the pathogenesis of KS1.

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Cardiovascular diseases are one of the leading causes of death globally. Among various cardiovascular diseases, myocardial infarction is an important one. Compared with conventional treatments, cardiac tissue engineering provides an alternative to repair and regenerate the injured tissue. Among various types of materials used for tissue engineering applications, silk biomaterials have been increasingly utilized due to their biocompatibility, biological functions, and many favorable physical/chemical properties. Silk biomaterials are often used alone or in combination with other materials in the forms of patches or hydrogels, and serve as promising delivery systems for bioactive compounds in tissue engineering repair scenarios. This review focuses primarily on the promising characteristics of silk biomaterials and their recent advances in cardiac tissue engineering.

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Artemisinin sustained-release microspheres (ASMs) with long-term inhibition effects (> 40 days) on harmful freshwater bloom-forming cyanobacteria have been found in previous studies, but the inhibition mechanism is not completely clear. In the present study, we examined the growth effect of ASMs on Microcystis aeruginosa (M. aeruginosa) cells at different physiological stages. Growth experiments indicated that M. aeruginosa of different initial densities could be inhibited immediately and chlorophyll-a content both showed significant decreases following exposure of cyanobacteria to optimal dosage of ASMs for 20 days. The algicidal mechanism of ASMs was tested through a suite of physiological parameters (membrane permeability, antioxidant enzymes activity, and lipid peroxidation). The rise of cell membrane permeability indices (intracellular protein, nucleic acid contents, and conductivity) showed that the cellular membrane structure of M. aeruginosa was attacked by ASMs directly causing the leakage of cytoplasm. Antioxidant enzyme activity was a sensitive indicator of the impacts of ASMs which showed a significant downtrend after a few days. ASMs caused a great increase in •O2- and malondialdehyde (MDA) level of the algal cells which indicated the increase in lipid peroxidation of M. aeruginosa. Irreversible membrane damage induced by ASMs via the oxidation of ROS may be an important factor responsible for the algicidal mechanism of ASMs on M. aeruginosa cells. The application of ASMs might provide a new direction to control M. aeruginosa, especially before the exponential phase according to the optimal economy and inhibition effect. Graphical abstract.

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Environment-friendly algaecides based on allelopathy have been extensively studied to control harmful algal blooms (HABs). The inhibitory effects of linoleic acid (LA) sustained-release microspheres on different cell densities of Microcystis aeruginosa (M. aeruginosa) at different growth phases were studied. The results showed that the growth of M. aeruginosa could be inhibited within 4 days and the constant inhibitory rate with initial algal density of 8 × 105 cells∙mL-1 (exponential phase) was up to 96% compared with control. The chlorophyll-a content in the treatment group had the same change trend with the algal density and declined significantly at day 20th, which suggested that the microspheres could promote the degradation of chlorophyll-a. The activities of superoxide dismutase (SOD) and catalase (CAT) increased gradually within 5 days but then declined sharply, which indicated that LA microspheres could cause oxidative damage to M. aeruginosa during the process of inhibition and reduce the activities of antioxidant enzymes. In addition, the concentration of oxygen free radical (O2-) increased at day 10th and rose constantly, and the content of malodialdehyde (MDA) increased to 2.7 times as much as control at day 20th. Furthermore, the content of protein, nucleic acid and the conductivity in culture solution showed a significant rise. These results showed that algal cell membrane lipid peroxidation occurred and the membrane permeability increased, accompanied by the damage of cell membrane. To sum up, the destruction of algal cell membrane is the main mechanism of LA microspheres inhibiting algal growth.

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