Miles–Carpenter syndrome (MCS) was described in 1991 as an XLID syndrome with fingertip arches and contractures and mapped to proximal Xq. Patients had microcephaly, short stature, mild spasticity, thoracic scoliosis, hyperextendable MCP joints, rocker-bottom feet, hyperextended elbows and knees. A mutation, p.L66H, in ZC4H2, was identified in a XLID re-sequencing project. Additional screening of linked families and next generation sequencing of XLID families identified three ZC4H2 mutations: p.R18K, p.R213W and p.V75in15aa. The families shared some relevant clinical features. In silico modeling of the mutant proteins indicated all alterations would destabilize the protein. Knockout mutations in zc4h2 were created in zebrafish and homozygous mutant larvae exhibited abnormal swimming, increased twitching, defective eye movement and pectoral fin contractures. Because several of the behavioral defects were consistent with hyperactivity, we examined the underlying neuronal defects and found that sensory neurons and motoneurons appeared normal. However, we observed a striking reduction in GABAergic interneurons. Analysis of cell-type-specific markers showed a specific loss of V2 interneurons in the brain and spinal cord, likely arising from mis-specification of neural progenitors. Injected human wt ZC4H2 rescued the mutant phenotype. Mutant zebrafish injected with human p.L66H or p.R213W mRNA failed to be rescued, while the p.R18K mRNA was able to rescue the interneuron defect. Our findings clearly support ZC4H2 as a novel XLID gene with a required function in interneuron development. Loss of function of ZC4H2 thus likely results in altered connectivity of many brain and spinal circuits.
Purpose: The purpose of this study was to identify the factors associated with energy drink consumption in Korean high school students. Methods: This cross sectional study used the secondary data from the 2015 Adolescent Health Behavior Online Survey. A total of 33,744 high school students were included in the study. Energy drink consumption was measured by asking how often they consumed energy drink during the previous week. Associated factors were categorized into socio-demographic characteristics, psychological characteristics, and health related behavioral characteristics. Complex samples logistic regression was used to analyze the influence of associated factors on energy drink consumption. Results: For socio-demographic characteristics, adolescent boys were likely to consume more energy drink than adolescent girls (Adjusted Odds Ratio [AOR]: 1.351, 95% Confidence Interval [CI]: 1.209~1.510). For psychological characteristics, depressed adolescents were likely to consume more energy drink than their counterparts (AOR: 1.697, 95% CI: 1.537~1.874). For health related behavioral characteristics, cigarette smoking (AOR: 1.336, 95% CI: 1.168~1.528), alcohol drinking (AOR: 1.126, 95% CI: 1.012~1.254), soda drink consumption (AOR: 1.800, 95% CI: 1.565~2.071), sweet drink consumption (AOR: 1.715, 95% CI: 1.431~2.054), and insufficient sleep time a day (AOR: 1.307, 95% CI: 1.197~1.427) were associated with energy drink consumption. Conclusions: In conclusion, energy drink consumption in Korean high school students were associated with such factors as psychological factors (depression) and health related behavioral characteristics (smoking, alcohol, sleep, soda and sweet drink). Thus, intervention programs in schools and communities should focus on these psychological and health related behavioral characteristics.
Herein, we report the fabrication of glycidyl methacrylate (GMA) polymeric conjugates of shortened multi-walled carbon nanotubes (sMWCNT). The synthesis method involves the attachment of initiator on the surface of nanotubes followed by surface initiated atom transfer radical polymerization (SI-ATRP) of GMA from the initiator-bound sMWCNT surface. This is achieved by the procedure consisting of three important steps: introduction of amino groups onto the sMWCNT and attachment of polymerization initiator, 2-bromo-2-methylpropinonyl bromide, and polymerization of GMA. The structure and properties of the resultant polymeric conjugates were characterized by Fourier transform infrared (FT-IR) spectroscopy, Thermogravimetric analysis (TGA), differential scanning calorimetry (DSC), X-ray diffraction (XRD), atomic force microscopy (AFM), transmission electron microscopy (TEM) and SEM. The FT-IR analysis of polymeric conjugates shows infrared (IR) peaks characteristic of GMA. AFM, TEM and SEM images clearly show the formation of poly(glycidyl methacrylate)(PGMA) polymer on sMWCNT surface.
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