ABSTRACT
Objective To study the clinical, pathological, imaging features of two cases of central core disease (CCD) with different inheritance and to explore the similarities and differences between autosomal recessive CCD (AR-CCD) and autosomal dominant CCD (AD-CCD). Methods Clinical manifestations, family history, muscle MRI and muscle biopsy were collected. Targeted next generation sequencing (NGS) and sanger sequencing were applied for genetic analysis. Co-segregation analysis was further conducted in one family. Results Their common clinical manifestations included childhood early-onset proximal limbs muscle weakness and dystrophy accompanied with facial involvement. The MRI revealed extensive muscular dystrophy and fatty filtration in the both thighs, but not in rectus femoris. Pathology of skeletal muscle showed typical central cores in type Ⅰ muscle fibers and eccentric cores only in AR-CCD. Targeted NGS identified 3 missense mutations in RYR1, including one novel mutation. Conclusion The present study has described clinical and pathological features of two typical CCD patients with different inheritance, which may be associated with the different mutations in RYR1 gene. Targeted NGS apparently improves the genetic diagnosis of CCD.
ABSTRACT
Volatility can influence the lifetime of particles in the atmosphere, and provide useful information on the formation of secondary aerosol. The previous studies generally utilized thermodenuder ( TD ) to investigate the volatility behavior of particles. Using TD, semivolatile species are vaporized at different temperature, and the vaporized gas is adsorpted by activated charcoal. However, carbon might be emitted from activated charcoal under high temperature or activated charcoal ageing. In this study, a new method was developed for the measurement of particle volatility by coupling a thermodiluter system to an online single particle aerosol mass spectrometer ( SPAMS) . Aerosol particles were passed into two different channels, and then analyzed by SPAMS. Through Channel 1, aerosol particles were heated to different temperature by heating tube, then non-volatile particles and volatile gas entered into the diluter. After diluting and cooling by diluent air, the non-volatile particles were analyzed by SPAMS. Through Channel 2, aerosol particles were analyzed directly by SPAMS without the heating process. Particle volatility was obtained by comparing the information ( particle size, particle number and mass spectrum ) of particles through Channels 1 and 2. Laboratory tests showed that the diluter could avoid the re-condensation of volatiles to the particles. This developed method was applied in the real time measurement of individual particle volatility in the spring of Guangzhou. The results showed that these particles were primarily comprised of highly volatile and moderate volatile species.
ABSTRACT
To explore one-step method for the preparation of Ganoderma lucidum multicomponent microemulsion, according to the dissolution characteristics of triterpenes and polysaccharides in Ganoderma lucidum, formulation of the microemulsion was optimized. The optimal blank microemulsion was used as a solvent to sonicate the Ganoderma lucidum powder to prepare the multicomponent microemulsion, besides, its physicochemical properties were compared with the microemulsion made by conventional method. The results showed that the multicomponent microemulsion was characterized as (43.32 +/- 6.82) nm in size, 0.173 +/- 0.025 in polydispersity index (PDI) and -(3.98 +/- 0.82) mV in zeta potential. The contents of Ganoderma lucidum triterpenes and polysaccharides were (5.95 +/- 0.32) and (7.58 +/- 0.44) mg x mL(-1), respectively. Sonicating Ganoderma lucidum powder by blank microemulsion could prepare the multicomponent microemulsion. Compared with the conventional method, this method is simple and low cost, which is suitable for industrial production.