• Journal of Genetic Medicine
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• v.16 no.2
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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.

• Journal of Korean Tunnelling and Underground Space Association
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• v.20 no.5
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• pp.809-822
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• 2018

A quantitative risk assessment has been introduced to quantitatively evaluate fire risk as a means of performance based fire protection design in the design of railway tunnel disaster prevention facilities. However, there are insufficient studies to examine the effect of various risk factors on the risk. Therefore, in this study, the risk assessment was conducted on the model tunnel in order to examine the effects of the evacuation start time delay and the fire growth curve on the quantitative risk assessment. As a result of the analysis of the scenario, the fatalities occurred mainly when escapes in the same direction as the direction of the fire smoke movement. In addition, after the FED exceeded 0.3, the maximum fatalities occurred within 10 minutes. In the range of relatively low risk, distance between cross passages, evacuation delay time and fire growth curve were found to affect the risk, but they were found to have little effect on the condition that the risk reached the limit. Especially, in this study, it was evaluated that the evacuation delay time reduction, fire intensity and duration reduction effect were not observed when the distance between cross passages was more than 1500 m.

• Journal of mucopolysaccharidosis and rare diseases
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• v.5 no.1
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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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• v.32 no.4
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• pp.178-183
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• 2007

Neutrons are high LET (linear energy transfer) radiation and cause more damage to the target cells than x-rays or gamma rays. The damage from neutrons is generally considered fatal to a cell and neutrons have a greater tendency to cause cell death through direct interaction on DNA. We performed experiments to measure growth delay ratio and oxygen enhancement ratio (OER) in mouse model system. We inoculated EMT-6 cells to the right hind leg of BALB-c mouse and X-rays and neutron beams were given when the average volume of tumors reached $200-300mm^3$. We irradiated 0, 11, 15.4 Gy of X-ray and 0, 5, 7 Gy of fast neutron beam at normoxic and hypoxic condition. The volume of tumors was measured 3 times per week. In x-ray experiment, growth delay ratio was 1.34 with 11 Gy and 1.33 with 15.4 Gy in normoxic condition compared to in hypoxic condition, respectively. In neutron experiment, growth delay ratio was 0.94 with 5 Gy and 0.98 with 7 Gy, respectively. The OER of neutron beam was 0.97. The neutron beam was more effective than X-ray in the control of hypoxic tumors.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.23 no.4
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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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• v.10 no.12
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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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• v.18 no.1
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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.

• Communications of the Korean Mathematical Society
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• v.38 no.3
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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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• v.10 no.8
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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.

• Transactions of the Korean Society of Mechanical Engineers
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• v.17 no.9
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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.