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Clinical and genetic characteristics of a child with Sotos syndrome and attention-deficit/hyperactivity disorder:A case report 被引量:1
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作者 Ya-Jing Yang Bei-Yi Li +4 位作者 Ke-Xin Gan Jing Liu Xiu-Qin Lv Dong-Mei Zhang hui-juan ma 《World Journal of Clinical Cases》 SCIE 2024年第22期5131-5139,共9页
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
关键词 Sotos syndrome Attention-deficit/hyperactivity disorder Nuclear receptor binding SET domain protein 1 Case report Developmental disabilities Diagnosis Como rbidity Management
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Microstructure and mechanical properties of 6082 aluminum alloy processed by preaging and hot forging 被引量:5
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作者 Lin HUA Pu-guang YUAN +2 位作者 Ning ZHAO Zhi-li HU hui-juan ma 《Transactions of Nonferrous Metals Society of China》 SCIE EI CAS CSCD 2022年第3期790-800,共11页
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
关键词 6082 aluminum alloy FORGING preaging compression behavior HARDNESS PRECIPITATES
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Flexible control of semiconductor laser with frequency tunable modulation transfer spectroscopy 被引量:2
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作者 Ning Ru Yu Wang +3 位作者 hui-juan ma Dong Hu Li Zhang Shang-Chun Fan 《Chinese Physics B》 SCIE EI CAS CSCD 2018年第7期321-324,共4页
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
关键词 semiconductor laser frequency stabilization frequency shift frequency tunable modulation trans-fer spectroscopy
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Decision-making Impairments in Primary Angle-closure Glaucoma Patients 被引量:3
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作者 Hui Pu YongWang +6 位作者 Qiang Wei hui-juan ma Pan-Pan Hu Shou-Ling Li Hong-Bo Pang Yang-Hua Tian Kai Wang 《Chinese Medical Journal》 SCIE CAS CSCD 2017年第12期1424-1428,共5页
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
关键词 COGNITIVE Decision-making: Neuroticism PERSONALITY Primary Angle-closure Glaucoma
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