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CPSI deficiency usually results in severe hyperammonemia presenting in the first days of life warranting prompt diagnosis. Most CPS1 defects are non-recurrent, private mutations, including point mutation, small insertions and deletions. In this study, we report the detection of large deletions varying from 1.4 kb to >130 kb in the CPS1 gene of 4 unrelated patients by targeted array CGH. These results underscore the importance of analysis of large deletions when only one mutation or no mutations are identified in cases where CPSI deficiency is strongly indicated.

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Abstract. Although manipulating 3D virtual models with mid-air hand gestures had the benefits of natural interactions and free from the sanitation problems of touch surfaces, many factors could influence the usability of such an interaction paradigm. In this research, the authors conducted experiments to study the visionbased mid-air hand gestures for scaling, translating, and rotating a 3D virtual car displayed on a large screen. An Intel RealSense 3D Camera was employed for hand gesture recognition. The two-hand gesture with grabbing then moving apart/close to each other was applied to enlarging/shrinking the 3D virtual car. The one-hand gesture with grabbing then moving was applied to translating a car component. The two-hand gesture with grabbing and moving relatively along the circumference of a horizontal circle was applied to rotating the car. Seventeen graduate students were invited to participate in the experiments and offer their evaluations and comments for gesture usability. The results indicated that the width and depth of detection ranges were the key usability factors for two-hand gestures with linear motions. For dynamic gestures with quick transitions and motions from open to close hand poses, ensuring gesture recognition robustness was extremely important. Furthermore, given a gesture with ergonomic postures, inappropriate control-response ratio could result in fatigue due to repetitive exertions of hand gestures for achieving the precise controls of 3D model manipulation tasks.

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The market economy has shifted the decision-making power of the garment industry from the enterprise to the consumer. Research on consumer clothing preferences is an essential part of sustainable development of the garment industry. Based on data statistics from eight fast fashion brands, black and white are most commonly used in two-color plaid shirts. This paper carried out a psychophysical experiment to investigate factors affecting pattern preferences for black-and-white shirts and the differences and similarities between male and female pattern preferences. Twenty-eight different representative patterns of plaid shirts were selected by five fashion designers together from 190 different black-and-white plaid shirts from eight fast fashion brands, which were then classified into three categories: gingham, tartans, and windowpane. Based on these patterns, 28 male and female shirts were simulated in three dimensions and presented on a calibrated computer display. The simulations were assessed by 42 observers (consisting of 21 males and 21 females) in terms of four semantic scales, including light–dark, delicate–rough, simple–complex, and like–dislike. The experimental results revealed that there was no significant difference of pattern preference between females and males for 89.29% of the black-and-white plaid shirts, and also described features of the patterns that the females and males liked or disliked. Furthermore, the study also demonstrated the formulation between the four semantic scales and three pattern features (including the percentage of black region, the size of the minimum repeat unit, and the descriptor of the pattern complexity). The findings could be used to develop a more robust and comprehensive theory of pattern preferences and provide a reference for pattern design for black-and-white plaid shirts. More comprehensive pattern preference theory is not only an effective tool to solve the problem of plaid shirt inventory in the garment industry but also an important theoretical basis for the “sustainable design” of clothing, which is of great significance to the sustainable development of the garment industry.