| 1. |
- Wallace, Stephanie E., et al.
(author)
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MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
- 2019
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In: Genetics in Medicine. - : Nature Publishing Group. - 1098-3600 .- 1530-0366. ; 21:1, s. 144-151
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Journal article (peer-reviewed)abstract
- Purpose: Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLKmissense variants are pathogenic and information to guide aortic disease management are limited.Methods: Clinical data from 60 cases with MYLK pathogenic variants were analyzed (five null and two missense variants), and the effect of missense variants on kinase activity was assessed.Results: Twenty-three individuals (39%) experienced an aortic event (defined as aneurysm repair or dissection); the majority of these events (87%) were aortic dissections. Aortic diameters were minimally enlarged at the time of dissection in many cases. Time-to-aortic-event curves showed that missense pathogenic variant (PV) carriers have earlier-onset aortic events than null PV carriers. An MYLK missense variant segregated with aortic disease over five generations but decreases MYLK kinase acitivity marginally. Functional Assays fail to identify all pathogenic variants in MYLK.Conclusion: These data further define the aortic phenotype associated with MYLKpathogenic variants. Given minimal aortic enlargement before dissection, an alternative approach to guide the timing of aortic repair is proposed based on the probability of a dissection at a given age.
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| 2. |
- Xu, Tao, et al.
(author)
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Epidemiology of Unintentional Injuries Among Children Under Six Years Old in Floating and Residential Population in Four Communities in Beijing : A Comparative Study
- 2014
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In: Maternal and Child Health Journal. - : Springer Science and Business Media LLC. - 1092-7875 .- 1573-6628. ; 18:4, s. 911-919
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Journal article (peer-reviewed)abstract
- To explore and compare the epidemiological characteristics of non-fatal unintentional injury among children in floating and residential population. Using a structured survey, quantitative data were collected on a total of 352 floating and 201 residential families. Some potential influencing factors were questioned, such as socio-demographic characteristics, injury-related family environment, knowledge, attitude and behavior, and child's character. The self-reported incidence of non-fatal unintentional injuries was 11.9 % in the floating group and 12.9 % in the residential group. Unintentional injuries were more serious and caused more disease burden in floating children than residential children, with the average medical cost being over ten times in the floating group than in the residential group. Results of multiple regression analysis showed that children living in floating families have more risk of unintentional injuries than those children in residential families. Older children and children with extroverted character were more vulnerable to unintentional injuries. Risky family environment was also an important risk factor of unintentional injuries. Better household economic status and having more siblings appeared to reduce the probability of unintentional injuries among children. Floating children are more vulnerable to unintentional injuries comparing with residential children. These findings can be used as preliminary data supporting intervention strategies and activities to promote safe living environment and decrease injury incidence among floating children.
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| 3. |
- Zheng, Hongwei, et al.
(author)
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Photoconjugation of temperature- and pH-responsive polymer with silica nanoparticles for separation and enrichment of bacteria
- 2021
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In: Colloids and Surfaces B: Biointerfaces. - : Elsevier BV. - 0927-7765. ; 197
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Journal article (peer-reviewed)abstract
- A new photoconjugation approach was developed to prepare nanoparticle-supported boronic acid polymer for effective separation and enrichment of bacteria. The photo-activated polymer immobilization was demonstrated by coupling an azide-modified copolymer of N-isopropylacrylamide and glycidyl methacrylate to a perfluorophenyl azide-modified silica surface. The thermoresponsive polymer was synthesized using reversible addition fragmentation chain transfer polymerization followed by conversion of the pendant epoxides into azide groups. The perfluorophenyl azide-modified silica nanoparticles were synthesized by an amidation reaction between amino-functionalized silica and pentafluorobenzoyl chloride, and a subsequent treatment with sodium azide. Bacteria-capturing boronic acid was conjugated to the silica-supported polymer chains via Cu(I)-catalyzed azide-alkyne cycloaddition (CuAAC) click reaction. The particle size, morphology and organic content of the composite nanoparticles were characterized systematically. The capability of the nanocomposite to bind Gram-positive and Gram-negative bacteria was investigated. The nanocomposite exhibited high binding capacities for E. coli (13.4 × 107 CFU/mg) and S. epidermidis (7.66 × 107 CFU/mg) in phosphate buffered saline. The new photoconjugation strategy enables fast and straightforward grafting of functional polymers on surface, which opens many new opportunities for designing functional materials for bioseparation and biosensing.
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