Genetic variations in the DYNC2H1 gene causing SRTD3 (short-rib thoracic dysplasia 3 with or without polydactyly)

Background and aims: Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) represents a type of severe fetal skeletal dysplasia (SD) characterized by shortened limbs, narrow thorax with or without polydactyly, which is caused by the homozygous or compound heterozygous mutations in the DYNC2H1 gene. SRTD3 is a recessive disorder, identification of the responsible genetic variation would be beneficial to an accurate prenatal diagnosis and well-grounded counseling for the affected families.Material and methods: Two families having experienced recurrent fetal SDs were recruited and submitted to a multiplatform genetic investigation. Whole-exome sequencing (WES) was performed with samples collected from the probands. Sanger sequencing and fluorescent quantitative PCR (qPCR) were conducted as validation assays for suspected variations.Results: WES identified two compound heterozygous variations in the DYNC2H1(NM_001080463.2) gene, namely c.2386C>T (p.Arg796Trp) and c.7289T>C (p.Ile2430Thr) for one; and exon (64–83)del and c.8190G>T (p.Leu2730Phe) for the other, respectively. One variant in them, exon (64–83)del, was novelly identified.Conclusion: The study detected two compound heterozygous variation in DYNC2H1 including one novel deletion: exon (64–83) del. Our findings clarified the cause of fetal skeletal dysplasia in the subject families, provided guidance for their future pregnancies, and highlighted the value of WES in diagnosis of skeletal dysplasia with unclear prenatal indications

Global Infectious Diseases in July 2023: Monthly Analysis

Many infectious diseases are ubiquitous and pose persistent adverse effects on public health. Infectious diseases have also been leading causes of high mortality in different periods of history. Real-time monitoring and analysis of global infectious disease transmission can provide a comprehensive understanding of critical information regarding the transmission routes, scope, velocity, and effects of viruses or bacteria. Here, using Shusi Tech’s Global Epidemic Information Monitoring System, we analyzed the prevalence of infectious diseases worldwide. We describe types of infectious diseases with relatively low incidence from 24 June 2023 to 23 July 2023 as comprehensibly as possible

Ship-owning as an asset class that deserves investment grade ratings : perspective from the capesize sector Volume 3

It is undeniable that the current Capesize market is in the doldrums where freight rates hardly cover the operating costs. The main reason is due to the huge amount of excess tonnage that was delivered since 2009. On the other hand, the current low market also provides opportunities for “buying cheap” as the shipyards are hungry for orders and are willing to make deep concessions. This Volume 3 aims to assess the feasibility of Capesize newbuilding investment based on the evaluation of market conditions and projections of investment returns. The market condition was assessed through the historical and future development of supply and demand. The investment return was analyzed by estimating the future cash flows and the associated risks. It was found that the market condition is likely to improve from 2018 onwards with gradual freight escalation. The investment strategy is thus to order ship in the current year but delay the delivery to no earlier than 2018. Based on this strategy, it was found that the investment would generate positive mean return with high profit potential if the company can limit the cost of capital (WACC) to no more than 6%. The investment is considered speculative if the WACC is near 7% due to a negative mean return but high profit potential. Lastly, if the WACC is more than 8%, the investment would become unfavorable with negative mean return and inadequate profit potential to justify downside risks.Bachelor of Science (Maritime Studies

Heterogeneous multi-Agent reinforcement learning algorithm integrating Prior-knowledge

In recent years, the breakthrough of machine learning based on deep reinforcement learning provides a new development direction for intelligent game confrontation. In order to solve the problems of slow convergence speed and great difference in training effect of heterogeneous multi-agent reinforcement learning algorithm in intelligent confrontation, this paper proposes a priori knowledge-driven multi-agent reinforcement learning game antagonism algorithm PK-MADDPG, and constructs a MADDPG model under the framework of double Critic. The model uses the experience first replay technique to optimize the prior knowledge extraction, thus achieving remarkable results in the training of game confrontation. In the national competition of MaCA heterogeneous multi-agent game confrontation, the paper compares the game confrontation results of PK-MADDPG algorithm with classical rule algorithm, and verifies the effectiveness of the algorithm proposed in this paper

Effect of Mg substitution for La on microstructure, hydrogen storage and electrochemical properties of La1−xMgxNi3.5 (x=0.20, 0.23, 0.25 at%) alloys

The effect of Mg substitution for La on microstructure, hydrogen storage and electrochemical properties of the annealed La1−xMgxNi3.5 (x=0.20, 0.23, 0.25 at%) alloys have been studied. All the samples were mainly composed of (LaMg)2Ni7, (LaMg)Ni3, and LaNi5 phases. Mg substitution for La changed the phase abundance, but did not change the constitution of all phases, which is confirmed by the results of back-scattered SEM images and EDS analysis. The P–C isotherms indicated that the La1−xMgxNi3.5 alloys reversibly absorbed and desorbed hydrogen smoothly at 298 K. The hydrogen absorption cyclic stabilities of La0.77Mg0.23Ni3.5 alloy after 5 hydrogen absorption/desorption cycles reached the maximum values of 91.9% and 96.0% at 298 K and 323 K, respectively. The hydrogen desorption capacity and plateau pressure for the La0.77Mg0.23Ni3.5 alloy reached the maximum values of 1.055 H/M and 0.074 MPa, respectively. The desorption capacities of La0.77Mg0.23Ni3.5 reached 0.193 H/M and 0.565 H/M in the first minute at 298 K and 323 K, respectively. Electrochemical property measurement indicated that La1−xMgxNi3.5 (x=0.20, 0.23, 0.25 at%) alloys possessed excellent activation capability and were completely activated within 3 cycles. Discharge capacities of La1−xMgxNi3.5 alloys reached 378.2 mA h/g (x=0.20 at%), 342.7 mA h/g (x=0.23 at%), and 369.6 mA h/g (x=0.25 at%), respectively. Moreover, energy density of La0.77Mg0.23Ni3.5 alloy was much larger than that of La0.80Mg0.20Ni3.5 alloy and nearly approaches the maximum value of La0.75Mg0.25Ni3.5. Thus, the La0.77Mg0.23Ni3.5 alloy exhibits optimum comprehensive properties of hydrogen storage and electrochemistry