• Journal of The Korean Society of Inherited Metabolic disease
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• v.20 no.2
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• pp.50-54
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• 2020

Vici syndrome is a rare, autosomal recessive multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, hypopigmentation, immunodeficiency, and delayed development. We report the case of a 3-year-old boy diagnosed with Vici syndrome. He initially presented with hypotonia and sucking problem. Whole-exome sequencing identified novel compound heterozygous mutations, namely c.2254C>T (p.Gln752Ter) and c.5511-5518+2 del TATGCAAAGT in the EPG5 gene. The diagnostic challenges can be attributed to the diverse clinical manifestations. Thus, whole-exome sequencing is a useful diagnostic tool for the genetically and clinically heterogeneous Vici syndrome. This is the first Korean report of a patient with Vici syndrome.

• Journal of English Language & Literature
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• v.64 no.3
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• pp.433-451
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• 2018

In Jesmyn Ward's 2017 novel, Sing, Unburied, Sing, Ward places herself within the modern African American literary tradition and lays out the unending "historical traumas" of blacks and cultural haunting in her narrative. She brings to the fore the story of a young black boy and demonstrates the difficulty of living while a black man in the American rural South. Living or dead, black males remain spectral as their frustrated black bodies are endlessly rejected and disembodied. It's through Ward's close attention to the notions of black masculinity and retrieval of (black) humanity that the black South is remembered, recuperated, and historicized. Shrewdly enough, Ward expands it further into the tradition of American literature. Instead of singularizing African American identity and its historical traumas, she renders them the part of American history and universalizing the single black story as the story of the American South. Filling in the gaps that Faulkner and other white writers have left in their novels, Ward writes stories about the unspeakable, the invisible, the excluded to deconstruct white narratives and rebuild the American history; and reasserts African roots and history, spirituality, black raciality and locality within the American tradition. I examine the symbolic significance of Jojo's claim of black masculinity within the socio-political contexts of contemporary America. I also look closely at Ward's portrayal of Jojo's black family genealogy on account of its traumatic experiences of incarceration in notorious Parchman Farm. Locating Jojo as the inspiration of linking the past and the present, the unburied and the living, I contend that Ward creates "home" for blacks in an atemporal oceanic space where the past and the present are able to meet simultaneously. I argue that the oceanic space is an alternative space of affect that functions against the space of white rationality.

• Pediatric Infection and Vaccine
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• v.27 no.3
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• pp.184-189
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• 2020

Lyme disease is a common vector-borne disease caused by Borrelia burgdorferi. Erythema migrans represents the most common manifestation during the early phase of this disease; however, systemic manifestations involving the nervous system, joints, or heart are known to occur. We report a case of Lyme disease accompanied by cardiac complications in a 13-year-old Korean male adolescent. The patient developed annular erythematous lesions on his lower extremities after a field trip during his visit to Connecticut, USA, for a boarding school camp, and his skin lesions were consistent with erythema migrans. Indirect immunofluorescence assay and Western blot analysis for Lyme immunoglobulin M showed positive results. Electrocardiography revealed a first-degree atrioventricular block, and he was diagnosed with Lyme carditis and received a 4-week course of oral doxycycline. Follow-up electrocardiography performed a week later revealed normal findings, and the patient showed an uneventful recovery. Lyme carditis often presents as an asymptomatic heart block that can progress to an advanced heart block; however, this condition is reversible with appropriate antibiotic treatment.

• Sleep Medicine and Psychophysiology
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• v.27 no.2
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• pp.77-81
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• 2020

Obstructive sleep apnea (OSA) is a sleep-related breathing disorder in which narrowing and obstruction of the upper airway lead to frequent arousal and decreased arterial oxygenation during sleep. OSA is more common in children with genetic disorders like achondroplasia compared to children without genetic disorders. Achondroplasia is genetic disorder characterized by hypoplasia of the facial bone and skull base with foramen magnum stenosis, resulting in exceedingly high frequency of OSA. The authors present a case of a patient with achondroplasia diagnosed with severe OSA through polysomnography after adenectomy showed little therapeutic effect and who was treated with continuous positive airway pressure.

• Journal of the Korea Fashion and Costume Design Association
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• v.23 no.1
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• pp.143-154
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• 2021

This study attempted to develop winter jackets and pants patterns reflecting the latest comfortable and active school uniform trends, using middle school boy avatars having various body shapes. Jacket and pants pattern-drawing methods and margins differed. Based on the results, research prototypes were prepared. Then, virtual wear prospective drawings, clothing pressure, and appearance were assessed according to body shape. Jackets were assessed using 25 factors, while pants were assessed using 19. Then, correlations between the jackets and pants were analyzed. According to the analysis, the reason why the dart & tuck position and margin were rated low was confirmed. In a virtual wear assessment on jacket patterns by body shape, a significant difference was found in all categories, except for fit and shape at the front bottom, sleeve length on the side, and the center back line. The virtual wear assessment on the pants patterns by body shape also revealed a significant difference in all categories, except for pants length. In jackets, a significant influence was observed around the shoulders and waist in Type 1 and around the belly in Type 2. On the contrary, for pants, a significant influence was found around the hip and waist in Type 1 and around back crotch in Type 2. Therefore, they should be considered when making of jackets and pants. The above results suggested that jacket and pants patterns should vary depending on body shape. It is anticipated that there should be further studies comparing brand-name school uniforms for middle school girls and school uniforms by body shape.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.64-69
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• 2021

Primary cilium has a signal transduction function that is essential for brain development, and also determines cell polarity and acts as a mediator for important signaling systems, especially the Sonic Hedgehog (SHH) pathway. TBC1D32 is a ciliary protein, implicated in SHH signaling. Biallelic mutations in the TBC1D32 gene causes a kind of ciliopathy, heterogeneous developmental or degenerative disorders that affect multiple organs, including the brain. Here we report a boy who carried compound heterozygous variants in TBC1D32. The patient showed hypotonia, respiratory difficulty, and multiple anomalies at his birth. He was diagnosed with congenital hypopituitarism and treated with T4, hydrocortisone, and growth hormone. Despite the hormonal replacement, the patient needed long-term respiratory support with tracheostomy and nutritional support with a feeding tube. His developmental milestones were severely retarded. Hydrocephalus and strabismus developed and both required surgery, during the outpatient follow-up. Whole-exome sequencing indicated compound heterozygous variants, c.2200C>T (p.Arg734^*) and c.156-1G>T, in TBC1D32 gene. This is the first Korean case of TBC1D32-related ciliopathy and we reported detailed and sequential clinical features. This case demonstrated the utility of whole-exome sequencing and provided valuable clinical data on ultra-rare disease.

• Pediatric Infection and Vaccine
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• v.28 no.2
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• pp.118-123
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• 2021

Culture tests are very important in choosing the appropriate antibiotics for bacterial infections. In some cases, bacteria that could not be identified in standard culture bottles could be detected using blood culture bottles. A previously healthy 13-year-old boy visited our emergency room. He experienced pain, redness, and hardness of periumbilical skin and a fever for five days. There was no history of abdominal surgery and penetrating trauma. Computed tomography showed abscess with cellulitis at the periumbilical soft tissue with no congenital anomaly. Ultrasonography-guided aspiration was performed, and about 8.5 mL of the purulent abscess was aspirated. The abscess was cultured using blood culture bottle. The pus grew Actinomyces radingae and Clostridium ramosum. When performing the pus culture, using blood culture bottles can be more effective and rapid than the standard culture method for the detection of bacterial pathogens.

• The Journal of the Convergence on Culture Technology
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• v.8 no.1
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• pp.395-402
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• 2022

The film House of Hummingbird intersects Korean modern history and personal history through the eyes of a teenage girl, and closely explores how patriarchy and Korean capitalism leave traces and internal impressions on the growing up of the female subject. This film is a meaningful text in terms of showing what changes can occur when the subject is transformed from a boy to a girl in the narrative of growth and when a feminist point of view is entered. House of Hummingbird reveals the weakness of the patriarchal symbolic order through the gaze of a teenage girl in the episodic narrative composition, and also discovers the possibility of close relationships and bonds between women in the gaps. In particular, Yeong-ji, the main character girl Eun-hee's Chinese language school lecturer, is a new female character that has never been seen in Korean teenage films. As a result, in House of Hummingbird, we meet a new female subject who negotiates the pain of growth in a 'good enough' condition.

• Journal of the Korean Orthopaedic Association
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• v.55 no.4
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• pp.354-358
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• 2020

Lipoma arborescens (LA) is a rare lesion that causes joint effusion and pain. LA usually presents as a unilateral knee lesion, and bilateral lesions are extremely rare. LA among adolescent patients is also extremely rare with the disorder having a much higher incidence among adults. This paper reports a 14-year-old boy who was treated for bilateral knee LA. X-rays revealed the characteristic features of LA in both knees, and arthroscopic synovectomy was performed to resect the lesions. Postoperative recovery progressed smoothly, and the patient was eventually relieved of pain and swelling. LA should be considered when adolescent patients present with bilateral pain and swelling, even though this condition is rare in this age group. Furthermore, surgical synovectomy for a complete resection is an appropriate treatment option.

• The Journal of the Korea Contents Association
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• v.22 no.3
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• pp.468-475
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• 2022

The purpose of this study is to identify trends in domestic breaking research to derive characteristics and implications, and further suggest future research directions. To this end, literature analysis (the timing of paper publication, research method, research topic) and keyword analysis of 50 papers related to breaking published in academic journals registered with the Korea Research Foundation (KCI) were conducted. The research results are as follows. First, the trend by thesis publication period was first published in 2006, showed a slight increase in 2012, and then increased rapidly in 2021. Second, domestic braking-related research has been mainly focused on qualitative research (60%). Third, looking at the research topic, it is divided into three categories: identity establishment, culture and arts field, and sports field, of which studies related to identity establishment accounted for more than 60%. Finally, looking at the keywords frequently used in breaking papers, the most frequently appeared word was 'hip-hop', followed by 'culture'. Based on these results, implications were drawn to establishing the identity of braking through academic and theoretical approaches, practical approaches through the development of standardized textbooks and curriculum, strengthening the characteristics and capabilities of the field through integrated approaches, and changing to sports.