Search

Objective To summarize phenotype, treatment principles and prognosis of 4 patients from 2 pedigrees with late-onset methylmalonic aciduria (MMA) and homocystinuria cobalamin C (cblC) type, so as to explore the pathophysiological mechanism of this disease. Methods and Results Exome sequencing was applied to rapidly diagnose 2 pedigrees of late-onset MMA and homocystinuria cblC type. The MMACHC gene mutations of the sisters in pedigree 1 were exon 4 c.482G > A (p.Arg161Gln) and c.615C > A (p.Tyr205X). Their parents carried the gene mutation respectively. The proband presented intelligence deterioration, spastic motor dysfunction of lower limbs and epilepsy. The younger sister presented axonal peripheral neuropathy and optic nerve atrophy, while the mental retardation was mild. For the brother and sister in pedigree 2, c.440_441del (p.Gly147fs) and c.482G > A (p.Arg161Gln) in exon 4 of MMACHC gene were identified which came from their parents respectively. The proband presented mental retardation and behavior disorder, weakness of lower limbs with pyramidal sign, and myelinated and axonal mixed peripheral neuropathy. His younger sister had similar symptoms and suffered earlier. After treated by vitamin B12, folic acid and levocarnitine for 6 months, all patients showed intelligence improved and seizures controlled, while still suffered from different degrees of dyskinesia of lower limbs. Conclusions The clinical symptoms of late-onset MMA and homocystinuria cblC type are complex and variable. Cerebral cortex, pyramidal system, extrapyramidal system and peripheral nerve could be widely involved. Target region gene capture combined with next-generation sequencing technology can be used to diagnose the disease rapidly, and early diagnosis and treatment are crucial to improve the prognosis. DOI: 10.3969/j.issn.1672-6731.2019.06.007

This paper estimates lake level variations over two small and adjacent lakes in the Tibetan plateau (TP), namely Gemang Co and Zhangnai Co, as well as the inland Dianchi Lake in China using CryoSat-2 SARIn-mode and LRM 20-Hz waveforms over the period of 2011–2018. Different retrackers and a dedicated data editing procedure have been used to process CryoSat-2 data for determining the lake level time series. The lake level estimations are indirectly validated against those from Jason-2 in TP and from in situ data in Dianchi Lake, both showing good agreement with strong correlation coefficients >0.74. The results of this paper suggest that the official ICE retracker for LRM data and APD-PPT retracker for SARIn-mode waveforms are the most appropriate retrackers over Dianchi Lake and TP lakes, respectively. The trend estimates of the time series derived by both retrackers are 61.0 ± 10.8 mm/yr for Gemang Co and Zhangnai Co in TP, and 30.9 ± 64.9 mm/yr for Dianchi Lake, indicating that the lake levels over three lakes were continuously rising over the study period. The results of this study show that CryoSat-2 SARIn-mode data can be used for monitoring many small lakes that have not been measured by other altimetry missions in TP.

DOI: 10.3969/j.issn.1672-6731.2016.08.013

This study aimed to confirm the use of microRNA (miR)-30c-5p and miR-373 as the potential biomarkers for Parkinson's disease (PD). In this study, 148 patients with PD admitted to our hospital were enrolled as the research group (RG) and 126 physically examined healthy individuals as the control group (CG) between December 2017 and June 2018. Serum miR-30c-5p and miR-373 expressions in both groups were determined by quantitative real-time polymerase chain reaction. Furthermore, the correlation of their expressions with PD severity was determined by Spearman's correlation analysis. Serum miR-30c-5p and miR-373 expressions were higher in RG than in CG (both P < 0.001). Their expressions were not related to smoking history and diabetes mellitus history in RG (both P>0.001) but were related to sex, age, coronary heart disease history, depression history, and Hoehn-Yahr score (all P < 0.05). Moreover, the relative expressions of serum miR-30c-5p and miR-373 were positively correlated with PD severity (P < 0.05). MiR-30c-5p and miR-373 may be involved in PD development and progression and can be adopted as potential biomarkers for PD. [ABSTRACT FROM AUTHOR]

Aiming at the demand for real-time numerical/semi-physical simulation in the research process of automated aerial refueling for unmanned aerial vehicle (UAV), this paper develops an automated aerial refueling distributed simulation system based on ZeroMQ and C++/Qt. Firstly, the simulation communication network of distributed simulation system is designed. Then, the program framework is designed and the management node and simulation node are defined. Finally, the above mentioned context is programmed through ZeroMQ and C++/Qt. The distributed simulation system can realize the real-time simulation for automated aerial refueling, and leave the convenient interface for semi-physical simulation.