BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a...BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.CASE SUMMARY The patient presented with accelerated growth and advanced skeletal maturation;however,she lacked any distinct facial characteristics related to specific genetic disorders.Genetic analyses revealed a paternally inherited heterozygous synonymous mutation[c.4605C>T(p.Arg1535Arg)].Functional analyses suggested that this mutation may disrupt splicing,and bioinformatics analyses predicted that this mutation was likely pathogenic.After an initial diagnosis of Sotos syndrome,the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.CONCLUSION The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.展开更多
A novel forging process of 6082 aluminum alloy is proposed, which can save time and reduce energy consumption while ensuring mechanical properties. In this process, the billet was preforged at solid solution temperatu...A novel forging process of 6082 aluminum alloy is proposed, which can save time and reduce energy consumption while ensuring mechanical properties. In this process, the billet was preforged at solid solution temperature and then preaged, followed by warm forging at 200 ℃. The flow behavior of the preaged samples during compression and the mechanical properties of the formed samples were investigated by hot compression tests. The differences in the precipitated phases of the samples with different processing parameters were analyzed by scanning electron microscopy(SEM), transmission electron microscopy(TEM), and differential scanning calorimetry(DSC). The best comprehensive performance was obtained after preaging at 120 ℃ for 4 h and holding at 200 ℃ for 10 min, and the Vickers hardness was HV 128, which was higher than that of the traditional process. Precipitation strengthening and dislocation strengthening were improved when the samples were formed at 200 ℃. This forging process shows the advantages of short time consumption and low energy consumption, which can effectively improve the production efficiency while ensuring the strength after forming.展开更多
We introduce a new method of simultaneously implementing frequency stabilization and frequency shift for semiconductor lasers. We name this method the frequency tunable modulation transfer spectroscopy (FTMTS). To r...We introduce a new method of simultaneously implementing frequency stabilization and frequency shift for semiconductor lasers. We name this method the frequency tunable modulation transfer spectroscopy (FTMTS). To realize a stable output of 780 nm semiconductor laser, an FTMTS optical heterodyne frequency stabilization system is constructed. Before entering into the frequency stabilization system, the probe laser passes through an acousto-optical modulator (AOM) twice in advance to achieve tunable frequency while keeping the light path stable. According to the experimental results, the frequency changes from 120 MHz to 190 MHz after the double-pass AOM, and the intensity of laser entering into the system is greatly changed, but there is almost no change in the error signal of the FTMTS spectrum. Using this signal to lock the laser frequency, we can ensure that the frequency of the laser changes with the amount of AOM shift. Therefore, the magneto-optical trap (MOT)-molasses process can be implemented smoothly.展开更多
Background: Primary angle-closure glaucoma (PACG) is a common eye disease and a common cause of blindness. Inappropriate medical decisions severely affect the prognosis. This study investigated decision-making unde...Background: Primary angle-closure glaucoma (PACG) is a common eye disease and a common cause of blindness. Inappropriate medical decisions severely affect the prognosis. This study investigated decision-making under risk in PACG patients.Methods: Thirty patients with first acute attack of PACG before surgery and thirty healthy controls were included in the study. Decision-making under risk was evaluated with the game of dice task (GDT). The results of Eysenck Personality Questionnaire (EPQ) and GDT between PACG patients and healthy controls were compared. Results: Risky decisions in PACG patients were more than those in healthy controls as measured by mean score ofGDT ( 12.47 ±5.72 vs. 4.33± 3.30, P 〈 0.001). Higher neuroticism score in EPQ was found in PACG patients compared to healthy controls (14.97 ± 3.93 vs. 9.90 ± 4.49, P 〈 0.001 ). Neuroticism scores in EPQ were associated with decision-making performance (r = 0.417, P = 0.001 ). Conclusions: Neuroticism positively correlated with risky decisions. Decision-making might be influenced by neuroticism. Future studies will show whether therapy compliance will be improved by emotional management and psychological intervention in PACG patients.展开更多
文摘BACKGROUND Sotos syndrome is an autosomal dominant disorder,whereas attention-deficit/hyperactivity disorder(ADHD)is a neurodevelopmental condition.This report aimed to summarize the clinical and genetic features of a pediatric case of Soros syndrome and ADHD in a child exhibiting precocious puberty.CASE SUMMARY The patient presented with accelerated growth and advanced skeletal maturation;however,she lacked any distinct facial characteristics related to specific genetic disorders.Genetic analyses revealed a paternally inherited heterozygous synonymous mutation[c.4605C>T(p.Arg1535Arg)].Functional analyses suggested that this mutation may disrupt splicing,and bioinformatics analyses predicted that this mutation was likely pathogenic.After an initial diagnosis of Sotos syndrome,the patient was diagnosed with ADHD during the follow-up period at the age of 8 years and 7 months.CONCLUSION The potential for comorbid ADHD in Sotos syndrome patients should be considered to avoid the risk of a missed diagnosis.
基金financially supported by the National Natural Science Foundation of China (Nos. 51775397, 52075400)“111” Project of China (No. B17034)+1 种基金the Major Program of Science and Technology Program of Hubei Province, China (Nos. 2019AAA007, 2020BAB140)the Innovative Research Team Development Program of Ministry of Education of China (No. IRT17R83)。
文摘A novel forging process of 6082 aluminum alloy is proposed, which can save time and reduce energy consumption while ensuring mechanical properties. In this process, the billet was preforged at solid solution temperature and then preaged, followed by warm forging at 200 ℃. The flow behavior of the preaged samples during compression and the mechanical properties of the formed samples were investigated by hot compression tests. The differences in the precipitated phases of the samples with different processing parameters were analyzed by scanning electron microscopy(SEM), transmission electron microscopy(TEM), and differential scanning calorimetry(DSC). The best comprehensive performance was obtained after preaging at 120 ℃ for 4 h and holding at 200 ℃ for 10 min, and the Vickers hardness was HV 128, which was higher than that of the traditional process. Precipitation strengthening and dislocation strengthening were improved when the samples were formed at 200 ℃. This forging process shows the advantages of short time consumption and low energy consumption, which can effectively improve the production efficiency while ensuring the strength after forming.
基金Project supported by the National Key Scientific Instrument and Equipment Development Project,China(Grant No.2014YQ35046103)
文摘We introduce a new method of simultaneously implementing frequency stabilization and frequency shift for semiconductor lasers. We name this method the frequency tunable modulation transfer spectroscopy (FTMTS). To realize a stable output of 780 nm semiconductor laser, an FTMTS optical heterodyne frequency stabilization system is constructed. Before entering into the frequency stabilization system, the probe laser passes through an acousto-optical modulator (AOM) twice in advance to achieve tunable frequency while keeping the light path stable. According to the experimental results, the frequency changes from 120 MHz to 190 MHz after the double-pass AOM, and the intensity of laser entering into the system is greatly changed, but there is almost no change in the error signal of the FTMTS spectrum. Using this signal to lock the laser frequency, we can ensure that the frequency of the laser changes with the amount of AOM shift. Therefore, the magneto-optical trap (MOT)-molasses process can be implemented smoothly.
基金This study was supported by grants from the National Basic Research Program of China (973 Program No. 2015CB856405) and the National Natural Science Foundation of China (No. 81471117 and No. 81671354).
文摘Background: Primary angle-closure glaucoma (PACG) is a common eye disease and a common cause of blindness. Inappropriate medical decisions severely affect the prognosis. This study investigated decision-making under risk in PACG patients.Methods: Thirty patients with first acute attack of PACG before surgery and thirty healthy controls were included in the study. Decision-making under risk was evaluated with the game of dice task (GDT). The results of Eysenck Personality Questionnaire (EPQ) and GDT between PACG patients and healthy controls were compared. Results: Risky decisions in PACG patients were more than those in healthy controls as measured by mean score ofGDT ( 12.47 ±5.72 vs. 4.33± 3.30, P 〈 0.001). Higher neuroticism score in EPQ was found in PACG patients compared to healthy controls (14.97 ± 3.93 vs. 9.90 ± 4.49, P 〈 0.001 ). Neuroticism scores in EPQ were associated with decision-making performance (r = 0.417, P = 0.001 ). Conclusions: Neuroticism positively correlated with risky decisions. Decision-making might be influenced by neuroticism. Future studies will show whether therapy compliance will be improved by emotional management and psychological intervention in PACG patients.