Oculopharyngodistal myopathy is a late-onset degenerative muscle disorder characterized by ptosis and weakness of the facial, pharyngeal, and distal limb muscles. A recent report suggested a non-coding trinucleotide repeat expansion in LRP12 to be associated with the disease. Here we report a genetic study in a Chinese cohort of 41 patients with the clinical diagnosis of oculopharyngodistal myopathy (21 cases from seven families and 20 sporadic cases). In a large family with 12 affected individuals, combined haplotype and linkage analysis revealed a maximum two-point logarithm of the odds (LOD) score of 3.3 in chromosomal region chr19p13.11-p13.2 and narrowed the candidate region to an interval of 4.5 Mb. Using a comprehensive strategy combining whole-exome sequencing, long-read sequencing, repeat-primed polymerase chain reaction and GC-rich polymerase chain reaction, we identified an abnormal CGG repeat expansion in the 5′ UTR of the GIPC1 gene that co-segregated with disease. Overall, the repeat expansion in GIPC1 was identified in 51.9% independent pedigrees (4/7 families and 10/20 sporadic cases), while the repeat expansion in LRP12 was only identified in one sporadic case (3.7%) in our cohort. The number of CGG repeats was <30 in controls but >60 in affected individuals. There was a slight correlation between repeat size and the age at onset. Both repeat expansion and retraction were observed during transmission but somatic instability was not evident. These results further support that non-coding CGG repeat expansion plays an essential role in the pathogenesis of oculopharyngodistal myopathy.

Here, we report novel lignin-poly­(ε-caprolactone)-based polyurethane bioplastics with high performance. The poly­(ε-caprolactone) (PCL) was incorporated as a biodegradable soft segment to the lignin by the bridge of hexamethylene diisocyanate (HDI) with long flexible aliphatic chains and high reactivity. The effects of -NCO/-OH molar ratio, content of lignin, and molecular weight of the PCL on the properties of the resultant polyurethane plastics were thoroughly evaluated. It is important that the polyurethane film still possessed high performance in the tensile strength, breaking elongation, and tear strength, which could reach 19.35 MPa, 188.36%, and 38.94 kN/m, respectively, when the content of lignin reached as high as 37.3%; moreover, it was very stable at 340.8 °C and presented excellent solvent-resistance. The results demonstrated that the modification of the lignin based on the urethane chemistry represents an effective strategy for developing lignin-based high-performance sustainable materials.

Particle phase state plays a key role in gas-particle partitioning, heterogeneous and multiphase reactions, and secondary aerosol formation. In this work, the rebound fraction and chemical composition of submicron particles were simultaneously measured to investigate the particle phase state and its link to chemical composition in a subtropical coastal urban city (Shenzhen, China). Submicron particles were found to be in the liquid state for most of the measurement period in spring. During the sampling time, both high relative humidity (RH, ranged from 40% to 93%) and inorganic mass fraction in particles (62.6 ± 12.4% of dry particles, on average) resulted in abundant aerosol liquid water (43 ± 6% in the wet PM1, on average), which may liquefy the particles. Considering the high frequency of ambient RH > 60% and large inorganic mass fraction in aerosol particles, we deduced that particles were in the liquid state throughout the year in coastal urban areas, where this study was performed. The liquid phase particles may accelerate the mass transfer of reactive trace gases and multiphase reactions, thereby enhanced secondary aerosol formation, further resulting in a rapid growth in aerosol mass. Our work suggested that in regions heavily impacted by SO2 and NO x emissions, especially in developing countries, the presence of inorganics could significantly impact the phase state of ambient aerosol particles, and thus the mixing state of inorganic and organic matter should be taken into account for the investigation of the aerosol phase state in urban environments.