• Journal of Genetic Medicine
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• 제16권2호
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• pp.49-54
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• 2019

Purpose: Potocki-Lupski syndrome (PTLS), is a recently identified, rare genomic disorder. The patients are affected by infantile hypotonia, poor growth and developmental delay. Facial dysmorphism may not be obvious in some patients. PTLS is associated with microduplication at chromosome 17p11.2. In the current study, three Korean patients are reported with their clinical and genetic features. Materials and Methods: The clinical findings of each patient were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were done for genetic diagnoses. Results: All the patients did not have the characteristic dysmorphic features, such as broad forehead, triangular face, asymmetric smile and palpebral fissures. On the other hand, all three patients were affected by variable degree of developmental delay, poor oral intake, failure to thrive, and language development disorders. Chromosome 17p11.2 duplication was identified by conventional karyotyping analysis only in one patient, whereas the other confirmed by MLPA analyses. Conclusion: Delayed development was mostly commonly observed in our patients without distinct dysmorphic facial features. In this respect, genomic screening in patients with developmental delay would identify more cases with PTLS to understand their long-term clinical courses with the development of adequate psychological and rehabilitation education program.

• 한국터널지하공간학회 논문집
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• 제20권5호
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• pp.809-822
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• 2018

철도터널의 방재시설 설계 시 성능위주설계의 일환으로 화재위험을 정량적으로 평가하는 정량적 위험도평가기법이 도입되어 적용되고 있다. 그러나 각종 위험인자가 위험도에 미치는 영향을 검토하기 위한 연구는 부족한 실정이다. 이에 본 연구에서는 피난개시 시간지연(210~873초) 및 화재성장곡선(1량 화재, 1량 화재지속, 화재중첩)이 정량적 위험도 평가에 미치는 영향을 검토하기 위해서 모델터널(연장: 15 km, 경사도 1.5%, 단면적 $57m^2$, 단굴 양방향 터널)을 대상으로 위험도 평가를 수행하였으며, 다음과 같은 결과를 얻었다. 시나리오(270개)에 대한 분석결과, 사망자는 주로 화재연기의 이동방향과 동일한 방향으로 대피하는 경우가 발생하고 있으며, FED가 0.3을 초과한 후에는 최대 10분 이내에 최대인원이 사망하는 것으로 나타났다. 위험도가 비교적 낮은 범위에서는 피난연결통로간격 및 피난개시시간, 화재성장곡선이 위험도에 영향을 미치는 것으로 나타나고 있으나, 위험도가 한계치에 도달하는 조건에서는 이들의 영향이 거의 없는 것으로 나타났다. 특히 본 연구에서는 피난연결통로의 간격이 1,500 m 이상인 경우에는 피난개시시간지연의 축소나 화재강도 및 화재지속시간의 감소효과가 거의 나타나지 않는 것으로 평가되었다.

• Journal of mucopolysaccharidosis and rare diseases
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• 제5권1호
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• pp.34-38
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• 2021

Prader-Willi syndrome is a complicated genetic disorder caused by a mutation on chromosome 15q11-13. The disease results in morbid obesity due to hyperphagia, growth disturbance, multiple endocrine problems from hypopituitarism, developmental delay, and cognitive or behavioral problems. Recombinant human growth hormone has been used to improve body composition and muscle mass, which plays a main role in treating patients with Prader-Willi syndrome. We describe previous studies showing the efficacy and safety of growth hormone treatment in children with Prader-Willi syndrome and provide treatment guidelines. Growth hormone therapy could be beneficial for children with Prader-Willi syndrome and improve their quality of life.

• Journal of Radiation Protection and Research
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• 제32권4호
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• pp.178-183
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• 2007

중성자선은 고 LET (linear energy transfer) 방사선으로 X선이나 감마선 등의 저 LET 방사선보다 세포에 더욱 큰 손상을 입힌다. 중성자에 의한 손상은 일반적으로 세포에 있어서 치명적이며, 중성자선은 X선이나 감마선에 비하여 직접작용을 통하여 세포사를 일으키는 경향이 있다. 본 연구에서는 고속중성자선의 성장지연비 및 산소증강비를 동물실험을 통하여 측정하고자 하였다. BALB-c 마우스의 우측 하지에 EMT-6 세포주를 이식한 후 종양의 평균용적이 $200-300mm^3$가 되었을 때 X선 및 고속중성자선을 조사하였다. 정상산소환경 및 저산소환경의 종양에 대하여 X선은 0, 11, 15.4 Gy를 조사하였고 고속중성자선은 0, 5, 7, Gy를 조사하였다. 방사선조사 후에는 종양의 용적을 주 3회 측정하였다. 정상산소환경 실험군의 경우 저산소환경 실험군에 비하여 X선 11 Gy를 조사하였을 때 성장지연비가 1.34였고, 15.4 Gy를 조사하였을 때 1.33였다. 고속중성자선을 조사한 경우정상산소환경 실험군이 저산소환경 실험군에 비하여 고속중성자선 5 Gy를 조사하였을 때 성장지연비는 0.94였고, 고속중성자선 7 Gy를 조사하였을 때 0.98였다. 고속중성자선의 산소증강비는 0.97이었다. 고속중성자선은 X선에 비하여 저산소환경에 있는 종양의 성장억제에 있어서 보다 효과적이었다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제23권4호
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• pp.175-180
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• 2012

Early detection and intervention is critical in improving prognosis of developmental disorders. Developmental delay can have many different causes and the clinical features of developmental delay are diverse according to its etiologic causes and severity. The vast and rapid growth of the child's neurobehavioral repertoire from birth through adolescence requires the physician's abundant experience, knowledge, and understanding of development. Here, we summarize instruments for use in neurodevelopmental assessment of infants and toddlers, focusing on motor development, which is the most frequent complaint listed in the developmental clinic.

• KSII Transactions on Internet and Information Systems (TIIS)
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• 제10권12호
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• pp.5174-5190
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• 2016

Recent years have witnessed an explosive growth of mobile devices, mobile cloud computing services offered by these devices and the remote clouds behind them. In this paper, we noticed ultra-low latency service, as a type of mobile cloud computing service, requires extremely short delay constraints. Hence, such delay-sensitive applications should be satisfied with strong QoS guarantee. Existing solutions regarding this problem have poor performance in terms of throughput. In this paper, we propose an end-to-end bandwidth resource reservation via software defined scheduling inspired by the famous SDN framework. The main contribution of this paper is the end-to-end resource reservation and flow scheduling algorithm, which always gives priority to delay sensitive flows. Simulation results confirm the advantage of the proposed solution, which improves the average throughput of ultra-low latency flows.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.60-63
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• 2021

Gabriel-de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel-de Vries syndrome.

• 대한수학회논문집
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• 제38권3호
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• pp.943-966
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• 2023

In this paper, we study the initial-boundary value problem for viscoelastic wave equations of Kirchhoff type with Balakrishnan-Taylor damping terms in the presence of the infinite memory and external time-varying delay. For a certain class of relaxation functions and certain initial data, we prove that the decay rate of the solution energy is similar to that of relaxation function which is not necessarily of exponential or polynomial type. Also, we show another stability with g satisfying some general growth at infinity.

• KSII Transactions on Internet and Information Systems (TIIS)
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• 제10권8호
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• pp.3551-3567
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• 2016

The Low Earth Orbit satellite network has the unique characteristics of the non-uniform and time-variant traffic load distribution, which often causes severe link congestion and thus results in poor performance for delay-sensitive flows, especially when the network is heavily loaded. To solve this problem, a novel adaptive routing algorithm, referred to as the delay-oriented adaptive routing algorithm (DOAR), is proposed. Different from current reactive schemes, DOAR employs Destination-Sequenced Distance-Vector (DSDV) routing algorithm, which is a proactive scheme. DSDV is extended to a multipath QoS version to generate alternative routes in active with real-time delay metric, which leads to two significant advantages. First, the flows can be timely and accurately detected for route adjustment. Second, it enables fast, flexible, and optimized QoS matching between the alternative routes and adjustment requiring flows and meanwhile avoids delay growth caused by increased hop number and diffused congestion range. In addition, a retrospective route adjustment requesting scheme is designed in DOAR to enlarge the alternative routes set in the severe congestion state in a large area. Simulation result suggests that DOAR performs better than typical adaptive routing algorithms in terms of the throughput and the delay in a variety of traffic intensity.

• 대한기계학회논문집
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• 제17권9호
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• pp.2145-2152
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• 1993

The objective of this paper is to examine the detection limit, growth characteristics and notch curvature radius in short crack problem. Measurement techniques such as ultrasonic method and back-face strain compliance method were adopted. The fatigue crack growth rate of the short crack is slower than that of a long crack for a notched specimen. The characteristic of crack growth and crack closure is same as the case of a delay of crack growth caused by constant amplitude load for an ideal crack or single peak overload for a fatigue crack. The short crack is detected effectively by ultrasonic method. A short surface crack occurs in the middle of specimen thickness and is transient to a through crack depth is larger than the notch curvature radius.