• Journal of Genetic Medicine
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• v.20 no.2
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• pp.70-74
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• 2023

CCCTC-binding factor (CTCF) is a transcriptional regulator that binds to a complex DNA motif in various orientations and plays a crucial role in regulating gene expression, chromatin restructuring, and developmental processes. Mutations in the CTCF are associated with neurodevelopmental disorders. Here we report the first Korean case with a de novo heterozygous variant in the CTCF (c.1025G>A; p.Arg342His). She showed global developmental delay, failure to thrive, and dysmorphic face, which are phenotypes consistent with previous reports in the autosomal dominant intellectual developmental disorder 21 (MIM 615502). She also showed clinical features not previously reported, such as antral web and tracheobronchomalacia. Our case follows suit and expands understanding of this rare disorder by reporting common features and, on the other hand, unreported concomitant congenital anomalies.

• Journal of Yeungnam Medical Science
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• v.40 no.4
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• pp.419-422
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• 2023

Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sporadic; however, it can be inherited rarely. Although an association with HESX1, SOX2, and SOX3 mutations has been identified, the detailed etiology is multifactorial and unclear. Here, we present the case of a 7-year-old girl who was clinically diagnosed with SOD and 15q13.3 duplication. Patients with duplication at chromosome 15q13.3 were reported to be diagnosed with autism spectrum disorder, epilepsy, and schizophrenia in previous studies. The relationship between SOD and the microduplication of 15q13.3 has not yet been explored. In this study, we suggest that there may be an association between chromosome 15q13.3 microduplication and SOD.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.27 no.4
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• pp.197-205
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• 2024

T-lymphocytic intestinal leiomyositis is a rare cause of "pediatric intestinal pseudo-obstructions." Diagnosis may be difficult and requires full-thickness bowel biopsies during laparotomy or laparoscopy with possible enterostomy. Currently, immunosuppressive therapy is the only available treatment. A delay in diagnosis and therapy may negatively affect the prognosis because of ongoing fibrotic alterations; therefore, early diagnosis and consequent treatment are crucial. This review summarizes the available information on the nosology, diagnostic steps, and treatment modalities. Here, we report the youngest case of enteric leiomyositis reported in the last two decades and analyze its management by reviewing previous cases.

• The Journal of Korean Institute of Communications and Information Sciences
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• v.32 no.6B
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• pp.382-389
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• 2007

In this paper we report the development of mobility test bed, the realization of basic protocol that supports L3 mobility and the measurement of performance parameters that can affect handover performance. Previously proposed mobility management system, BBM (Break Before Make) method such as MIPV6 and Fast MIPV6, uses one interface in wireless network. In this method, to connect to new AP, it first disconnects existing AP and tries to connect to new AP. This can cause packet loss for the traffic vulnerable to delay such as VoIP. To provide seamless handover between different wireless networks, we propose MBB (Make Before Break) handover method having two network interfaces. Comparative study of previous method and proposed method on mobility and handover was conducted under simulated real environment on the test bed. Almost no packet loss was found with newly proposed method. In conclusion, it is shown that mobility protocol with proposed handover method can be applied to the application services sensitive to delay and packet loss.

• Clinical and Experimental Pediatrics
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• v.51 no.4
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• pp.426-430
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• 2008

We report clinical, cytogenetic, and fluorescence in situ hybridization (FISH) studies of a patient with ring chromosome 9. She presented with failure to thrive, facial dysmorphysm and mild psychomotor development delay in the absence of major malformations. Peripheral blood karyotype of the patient was 46,XX,r(9)(p24q34). G-band analysis suggested no loss of material in the ring chromosomes. FISH analysis using the subtelomere-specific sequences on chromosome 9p and 9q, revealed 46,XX,r(9)(p24q34),ish r(9)(D9S913-,D9S325+). Failure to detect any hybridization of a probe for the subtelomeric sequences in the ring 9p terminal suggested that this ring arose from breakage in the distal short arm. The cytogenetic and FISH data in our case provided further evidence for the existence of a "complete ring" phenotype with incomplete subtelomeric sequences.

• Clinical and Experimental Pediatrics
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• v.59 no.1
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• pp.16-23
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• 2016

Purpose: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. Methods: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. Results: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. Conclusion: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.

• Child Health Nursing Research
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• v.24 no.1
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• pp.58-67
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• 2018

Purpose: This prospective study aimed to examine the development of premature infants at 12 and 24 months and to explore the factors related to their development. Methods: Of the 80 premature infants who were recruited, 52 participants at 12 months and 31 participants at 24 months were included in this study. The development of the infants was examined using the Korean Bayley scale of infant development-II. Postnatal depression, husband's support, social support, mother-infant attachment, and the home environment were assessed using self-report questionnaires completed by the mothers and through the researcher's observations. Results: There was significant difference between normal and delay group at psychomotor development at 12 months depending on social support at 6 months (t=2.03, p=.049). Mother-infant attachment at 6 months (r=.71, p<.001), 12 months (r=.37, p=.043), and 24 months (r=.40, p=.026), as well as social support (r=.38, p=.034) and the home environment (r=.41, p=.022) at 24 months, were correlated to mental development at 24 months. There was a significant positive correlation between mother-infant attachment at 6 months and psychomotor development at 24 months (r=.40, p=.046). Conclusion: To reduce the risk of developmental delay and to promote healthy development in premature infants, early nursing interventions targeting mother-infant attachment, the home environment, and the mother's social support structure are needed.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.19-24
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• 2016

Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature described in patients who present the 5q33.3q35.1 deletion. Here, we report a case of a de novo deletion of 5q33.3q35.1, 46,XY,del(5)(q33.3q35.1) in an 11-year-old boy with mental retardation; to the best of our knowledge this is the first case in Korea to be reported. He was diagnosed with severe mental retardation, developmental delay, facial dysmorphisms, dental anomalies, and epilepsy. Chromosomal microarray analysis using the comparative genomic hybridization array method revealed a 16-Mb-long deletion of 5q33. 3q35.1(156,409,412-172,584,708)x1. Understanding this deletion may help draw a rough phenotypic map of 5q and correlate the phenotypes with specific chromosomal regions. The 5q33.3q35.1 deletion is a rare condition; however, accurate diagnosis of the associated mental retardation is important to ensure proper genetic counseling and to guide patients as part of long-term management.

• Transactions of the Korean Society of Mechanical Engineers
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• v.9 no.5
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• pp.627-637
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• 1985

The combustion process and the performance of a diesel engine are seriously affected by the ignition delay period of the fuel used. Some methods for improving the combustion process in the engine cylinder are to well match the strength of air swirl with the space of sprays in the cylinder, to blend an ignition improver in the fuel, to inject a small amount of auxiliary fuel prior to main injection and so on. Recently, the improvement of fuel economy and the reduction of exhaust smoke and NO have been successfully achieved by supplying diesel engines with emulsified fuel. However, it is very difficult to know real combustion mechanism under such special conditions, because of many factors affecting on the combustion process in practical reciprocating engine. In the present paper, the combustion processes of diesel fuel and emulsion fuel were tried to improve and to observe by making contact with various lean pre-mixtures in the hot air stream duct. This hot air stream method has an advantage that the spontaneous combustion process can be observed under a simplified condition.

• The Journal of Korean Institute of Communications and Information Sciences
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• v.32 no.1A
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• pp.57-65
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• 2007

The overlay multicast that has been recently presented as IP alternative for the IP multicast has been getting much persuasion by the computing power of the hardware and the advancement of the network techniques to enforce Routing in application-level. In an overlay multicast, the system resource and the network bandwidth must be utilized efficiently to service real-time HDTV images. Specifically, the system must consider the delay and the jitter that can be incurred at the application-level. In this paper, we implement a server and a client to broadcast HDTV, in the session composed by the existing overlay multicast protocol. The broadcasting server performs the service using a TV tuner, An HDTV camcorder, and files, clients constituting a multicast group relay the received data to other clients. At this time, the information that the clients report periodically, including their delay and the network state, to the server is used as an important information to maintain an overlay session. The implementation is based on the DirectX and its performance is evaluated by the LAN test bed that has been set.