• Journal of Genetic Medicine
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• v.19 no.2
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• pp.100-104
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• 2022

The gene encoding solute carrier family 9 member 6 (SLC9A6) on Xq26.3 is associated with Christianson syndrome (CS) mimicking Angelman syndrome. In CS, developmental and epileptic encephalopathy (DEE) appears in about 20%, and DEE with spike-and-wave activation in sleep (SWAS) is reported only in several cases. A 10-year-old boy with DEE showed multidrug resistant focal seizures from 6 months of age. He had progressive microcephaly, regression, global developmental delay without speech, hyperkinesia, and truncal ataxia; he had a long thin face, esotropia, and happy demeanor. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Electroencephalogram at 7.5 years of age showed nearly continuous diffuse paroxysms in slow wave sleep. The seizures were responsive to corticosteroids for a while. Trio whole exome sequencing exhibited a likely pathogenic variant of SLC9A6 in the proband and his asymptomatic mother: c.1194dup (p.Leu399AlafsTer12). This is a rare case report of CS with DEE-SWAS in a Korean patient.

• Archives of Craniofacial Surgery
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• v.25 no.1
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• pp.31-37
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• 2024

Orbital floor fractures are commonly encountered, but the dislocation of the eyeball into the maxillary sinus is relatively rare. When it does occur, globe dislocation can have serious consequences, including vision loss, enucleation, and orbito-ocular deformity. Immediate surgical intervention is typically attempted when possible. However, severe comorbidities and poor general health can delay necessary surgery. In this report, we present the surgical outcomes of a 70-year-old woman who received delayed treatment for traumatic eyeball dislocation into the maxillary sinus due to a subarachnoid hemorrhage and hemopneumothorax. Additionally, we propose a treatment algorithm based on our clinical experience and a review of the literature.

• Archives of Craniofacial Surgery
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• v.25 no.2
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• pp.99-103
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• 2024

Because facial nerve injuries affect the quality of life, leaving them untreated can have devastating effects. The number of patients with traumatic and iatrogenic facial nerve paralysis is considerably high. Early detection and prompt treatment during the acute injury phase are crucial, and immediate surgical treatment should be considered when complete facial nerve injury is suspected. Symptom underestimation by patients and clinical misdiagnosis may delay surgical intervention, which may negatively affect outcomes and in some cases, impair the recovery of the injured facial nerve. Here, we report two cases of facial nerve injury that were treated with nerve grafts during the subacute phase. In both cases, subacute facial nerve grafting achieved significant improvements. These cases highlight surgical intervention in the subacute phase using nerve grafts as an appropriate treatment for facial nerve injuries.

• The Journal of Korean Institute of Communications and Information Sciences
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• v.33 no.8A
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• pp.787-793
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• 2008

3GPP evolved packet system (EPS) is an all-IP based system that supports various access networks such LTE, HSPA/HSPA+, and non-3GPP networks. Recently, the support of IP flows with packet level QoS profiles was added to the requirements of the EPS. This paper proposes an adaptive modulation and coding (AMC) scheme that supports the QoS of such IP flows in the 3G LTE access network of the EPS. Defining the retransmission as a critical factor for QoS, the proposed scheme applies different maximum packet error probability $P_{max}$ to each packet when selecting the AMC transmission mode. In determining $P_{max}$, the QoS constraints and NACK-to-ACK error as well as channel condition are considered, balancing two objectives: the satisfaction of the QoS and the maximization of spectral efficiency. The simulation results show that it is able to reduce both delay violation and status report by 10%, while improving the throughput 10% in comparison with an existing scheme.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.127-131
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• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• Journal of IKEEE
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• v.9 no.2 s.17
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• pp.123-135
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• 2005

3GPP RLC protocol specification adopted a window-controlled selective-repeat ARQ scheme for provisioning reliable data transmission. Inevitably, the re-ordering issue arises in the 3GPP's ARQ since it belongs to the selective-repeat ARQ clan. A long re-ordering time results in the degradation of throughput and delay performance, and may invoke the overflow of the re-ordering buffer. Also, the re-ordering time must be regulated to meet the requirements of some services which are both loss-sensitive and delay-sensitive. In the 3GPP's ARQ, we may deflate the occupancy of the re-ordering buffer by reducing the window size and/or length of the status report period. Such a decrease, however, deteriorates the throughput and delay performance and encroaches the resource of the reverse channel. Aiming at reducing the occupancy at the re-ordering buffer while suppressing the degradation of throughput and delay performance, we propose threshold-dependent occupancy control schemes, identified as post-threshold and pre-threshold schemes, as supplements to the 3GPP's ARQ. For judging the effectiveness of the proposed schemes, we investigate peak occupancy, maximum throughput and average delay in the practical environment involving fading channels. From the simulation results, we observe that the proposed schemes invoke the performance trade-off between occupancy and throughput in general. Also, we reveal that the post-threshold scheme is able to improve the throughput and delay performance of the ordinary 3GPP's ARQ without inflating the occupancy of the re-ordering buffer.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.11 no.1
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• pp.255-260
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• 1989

Unfavorable healing of maxillary fractures may impose functional and esthetic burdens upon the trauma victim. Malunited maxillary fractures are generally a result of treatment delay, incomplete or inaccurate immobilization of the fracture fragments, or infection. Dysfunctions of mastication, distortions in speech, gross defects in facial contour, and related psychic changes are problems which may require secondary correction. When it is necessary to delay definitive treatment or when inadequate maxillary fracture reduction is recognized within the first week following injury, the maxilla can be mobilized by heavy handed dental manipulation under anesthesia or by elastic traction to an external fixation appliance attached to the maxilla by arch bars or an acrylic splint. But malunited maxillary fracture that have progressed to bony malunion require osteotomy procedure in order to establish normal anatomic relationships. This report parents two cases of malunited unilateral maxillary fracture surgically corrected by unilateral Le Fort I osteotomy.

• Journal of information and communication convergence engineering
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• v.13 no.3
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• pp.180-188
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• 2015

As a potential alternative to the complementary metal-oxide semiconductor (CMOS) technology, many researchers are focusing on carbon-nanotube field-effect transistors (CNFETs) for future electronics. However, existing studies report the advantages of CNFETs over CMOS at the device level by using small-scale circuits, or over outdated CMOS technology. In this paper, we propose a methodology of analyzing CNFET-based circuits and study its impact at the full-chip scale. First, we design CNFET standard cells and use them to construct large-scale designs. Second, we perform parasitic extraction of CNFET devices and characterize their timing and power behaviors. Then, we perform a full-chip analysis and show the benefits of CNFET over CMOS in 45-nm and 20-nm designs. Our full-chip study shows that in the 45-nm design, CNFET circuits achieve a 5.91×/3.87× (delay/power) benefit over CMOS circuits at a density of 200 CNTs/µm. In the 20-nm design, CNFET achieves a 6.44×/3.01× (delay/power) benefit over CMOS at a density of 200 CNTs/µm.

• KSII Transactions on Internet and Information Systems (TIIS)
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• v.9 no.10
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• pp.3851-3866
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• 2015

The dynamic nature of opportunistic networks results in long delays, low rates of success for deliveries, etc. As such user experience is limited, and the further development of opportunistic networks is constrained. This paper proposes a prediction-based routing method for opportunistic networks (PB-OppNet). Firstly, using an ARIMA model, PB-OppNet describes the historical contact information between a node pair as a time series to predict the average encounter time interval of the node pair. Secondly, using an optimal stopping rule, PB-OppNet obtains a threshold for encounter time intervals as forwarding utility. Based on this threshold, a node can easily make decisions of stopping observing, or delivering messages when potential forwarding nodes enter its communication range. It can also report different encounter time intervals to the destination node. With the threshold, PB-OppNet can achieve a better compromise of forwarding utility and waiting delay, so that delivery delay is minimized. The simulation experiment result presented here shows that PB-OppNet is better than existing methods in prediction accuracy for links, delivery delays, delivery success rates, etc.

• Journal of KIISE:Computer Systems and Theory
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• v.26 no.7
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• pp.827-838
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• 1999

멀티미디어 통신에서 통신 성능에 관련된 요구 사항들은 QoS 매개 변수들로서 서술된다. QoS매개 변수들에서 중요한 매개 변수 중의 하나가 전송 신뢰성이다. QoS 매개 변수로서의 신뢰성은 오류 감지, 보고 그리고 정정 기법으로 정의된다. 하지만 기존의 오류 제어 기법들은 멀티미디어 데이타의 통합된 관점을 고려하지 않았다. 그래서 우리는 MEC(multimedia-oriented error control)라고 명명된 오류 제어 기법을 제안하였다. 1 본 논문에서는 MEC기법의 성능을 조사 하였다. 성능평가 결과는 MEC기법이 기존의 오류 제어 기법보다도 낮은 전송지연(lower delay)과 호손율(blocking probability) 을 갖는다는 것을 볼 수 있었다. 결국 제안된 MEC기법은 수송 프로토콜에게 유연성과 높은 성능을 갖도록 해준다.Abstract Communication performance requirements are described as QoS parameters in multimedia communication. One of the important QoS parameters is the reliability of the transfer. As a QoS parameter, the reliability defines error detection, report and correction mechanisms. Conventional error control mechanisms, however, do not consider the integrated viewpoint of multimedia data. So we have proposed the MEC(multimedia-oriented error control). 1 In this paper, we have investigated the performance evaluation of the MEC. The results show that the MEC mechanism provides lower transfer delay and blocking probability than those of the conventional error recovery mechanism. Therefore, the proposed MEC mechanism makes the transport protocol have the flexibility and high performance.