• Journal of Chest Surgery
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• v.48 no.1
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• pp.7-12
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• 2015

Background: Mitral regurgitation is one of the leading causes of cardiovascular morbidity in pediatric patients with Marfan syndrome. The purpose of this study was to contribute to determining the appropriate surgical strategy for these patients. Methods: From January 1992 to May 2013, six patients with Marfan syndrome underwent surgery for mitral regurgitation in infancy or early childhood. Results: The median age at the time of surgery was 47 months (range, 3 to 140 months) and the median follow-up period was 3.6 years (range, 1.3 to 15.5 years). Mitral valve repair was performed in two patients and four patients underwent mitral valve replacement with a mechanical prosthesis. There was one reoperation requiring valve replacement for aggravated mitral regurgitation two months after repair. The four patients who underwent mitral valve replacement did not experience any complications related to the prosthetic valve. One late death occurred due to progressive emphysema and tricuspid regurgitation. Conclusion: Although repair can be an option for some patients, it may not be durable in infantile-onset Marfan syndrome patients who require surgical management during infancy or childhood. Mitral valve replacement is a feasible treatment option for these patients.

• The Journal of the Korean Society for Microbiology
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• v.22 no.2
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• pp.139-145
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• 1987

Adherence to HEp-2 cells has been proposed as a virulence characteristic of enteropathogenic E. coli (EPEC). The role of the HEp-2 adherent E. coli was evaluated in a group of children with endemic diarrhea admitted to Hanyang University Hospital in Seoul, Korea. HEp-2-adherent E. coli was detected in fecal samples of 59 (59%) of 100 cases and ten (22.7%) of 44 concurrent control children (p<0.0005). Adherence was exhibited by 15 serogroups and subgroups, but within these groups more than one adherence pattern was frequently observed. Of 17 strains belonging to traditional infantile EPEC serogroups, 12(70.6%) gave a positive adherence. Of 45 enterotoxin producing strains, 24 (53.3%) gave a positive adherence. HEp-2-adherent strains that did not belong to classic EPEC serogroups and did not produce heat-stable and/or heat-labile enterotoxins(referred as enteroadherent E. coli, EAEC) was found in 29 (29%) of the patients with diarrhea and in six (13.6%) of the well children (p<0.05). From 22 of the 29 cases, no pathogen other than EAEC was isolated. These findings strongly implicate EAEC as the cause of diarrhea in the children. Our study supports the concept that EAEC may be an important cause of endemic diarrhea in Korean children.

• The Journal of the Korean Society for Microbiology
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• v.22 no.3
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• pp.197-208
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• 1987

Chlamydia trachomatis has now shown that this interesting intracellular parasite is a cause of nongonococcal urethritis, infantile pneumonia, pelvic inflammatory disease and epididymitis, in addition to lymphogranuloma venerum and inclusion conjunctivitis. There are several diagnostic methods for C. trachomatis, but the method using monoclonal antibody is the most sensitive and specific. The hybride cell were prepared by fusion of myeloma cell($P_3X_{63}\;Ag_8{\cdot}V_{653}$) of mouse and lymphocyte of mouse(BALB/c) that were immunized with formalin killed C. trachomatis serotype D. The cell mixtures after fusion were dispensed into 640 wells of the 96 well culture plates and continuously cultured in HAT medium for 2 weeks. The supernatants of culture media in 83(13%) wells were reacted with C. trachomatis, which were determined by enzyme-linked immunosorbent assay in 96 well microplate. The clones that secreted antibody to C. trachomatis were cloned by limiting dilution. Only six monoclones secreted antibody to C. trachomatis. The antibody titer of ascitic fluid that collected from same BALB/c mice bearing hybridoma cells was above 1:100,000. These monoclonal antibodies that were IgG reacted with elementary and reticulate bodies of all serotypes(Ba, D, E, F, G, H, J and LGV type-I) using ELISA and indirect immunofluorescence stain, but there were no cross reaction with other bacteria(coagulase negative Staphylococcus, Proteus and E. coli). We concluded these six monoclones secreted the same monoclonal antibody to C. trachomatis. The sensitivity and specificity of the monoclonal antibody compared with Microtrak(confirmatory test of C. trachomatis, Syva) was 100%, respectively.

• Childhood Kidney Diseases
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• v.23 no.2
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• pp.59-66
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• 2019

Background: Primary hyperoxaluria (PH), a rare inborn error of glyoxylate meta bolism causing overproduction of oxalate, is classified into three genetic subgroups: type 1-3 (PH1-PH3) caused by AGXT, GRHPR, and HOGA1 gene mutations, respectively. We performed a retrospective case series study of Korean pediatric patients with PH. Methods: In total, 11 unrelated pediatric patients were recruited and their phenotypes and genotypes were analyzed by a retrospective review of their medical records. Results: Mutational analyses revealed biallelic AGXT mutations (PH1) in nine patients and a single heterozygous GRHPR and HOGA1 mutation in one patient each. The c.33dupC was the most common AGXT mutation with an allelic frequency of 44%. The median age of onset was 3 months (range, 2 months-3 years), and eight patients with PH1 presented with end stage renal disease (ESRD). Patients with two truncating mutations showed an earlier age of onset and more frequent retinal involvement than patients with one truncating mutation. Among eight PH1 patients presenting with ESRD, five patients were treated with intensive dialysis followed by liver transplantation (n=5) with/without subsequent kidney transplantation (n=3). Conclusion: Most patients presented with severe infantile forms of PH. Patients with two truncating mutations displayed more severe phenotypes than those of patients with one truncating mutation. Sequential liver and kidney transplantation was adopted for PH1 patients presenting with ESRD. A larger nation-wide multicenter study is needed to confirm the genotype-phenotype correlations and outcomes of organ transplantation.

• The Journal of Pediatrics of Korean Medicine
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• v.35 no.4
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• pp.112-124
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• 2021

Objectives The aim of this study is to examine the effects of Pediatric Tuina Massage (PTM) as a treatment of Chlidren's Epilepsy (CE) and to seek guidance for future follow-up studies and the use of Pediatric Tuina Massage (PTM) in clinical setting. Methods The articles were obtained from the China National Knowledge Infrastructure (CNKI) from 2000 to 2021 by key words 'epilepsy', '癲癎', '癲癎病', 'infantile spasm', '婴幼儿痉挛', '小儿发作', '婴幼儿痉挛' and '推拿', '按摩', 'Tuina', 'Chuna', 'massage' in cross combination way. Results Seven articles were selected and analyzed by authors, years published, characteristics, diagnostic criteria, treatment methods and contents, treatment periods, evaluation criteria and research results. Also, stability and side effects were reviewed, and the qualities of the randomized controlled trials (RCT) were evaluated according to Risks of Bias 2 (RoB 2). All studies using Pediatric Tuina Massage (PTM) treatment have achieved effective therapeutic results for treating Children's epilepsy (CE). Conclusion Pediatric Tuina Massage (PTM) is economical, safe without side effects and non-invasive, but still produce a good effect. Also, it is a good treatment option for children who feels anxious of ordinary Korean Medical treatment such as acupuncture, moxa, herbal medicine, which also results in good compliance with the treatment. In addition, it is possible to enhance therapeutic effect by combining it with pharmacological therapies in treating children's epilepsy (CE). Therefore, Pediatric Tuina Massage (PTM) provides an essential clinical basis in guiding further studies for the treatment of CE.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.25 no.6
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• pp.441-452
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• 2022

Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic and secretory diarrhea. Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia, is a type of secretory CDD. CTE is a rare autosomal recessive enteropathy that presents with intractable neonatal-onset diarrhea, intestinal failure, severe malnutrition, and parenteral nutrition dependence. Villous atrophy of the intestinal epithelium, crypt hyperplasia, and irregularity of surface enterocytes are the specific pathological findings of CTE. The small intestine and occasionally the colonic mucosa include focal epithelial tufts. In 2008, Sivagnanam et al. discovered that mutations in the epithelial cell adhesion molecule (EpCAM, MIM# 185535) were the genetic cause of CTE (MIM# 613217). More than a hundred mutations have been reported to date. Furthermore, mutations in the serine peptidase inhibitor Kunitz type 2 (SPINT2, MIM# 605124) have been linked to syndromic CTE. In this study, we report the case of a 17-month-old male infant with congenital diarrhea. Despite extensive etiological workup, no etiology could be established before admission to our center. The patient died 15 hours after being admitted to our center in a metabolically decompensated state, probably due to a delay in admission and diagnosis. Molecular autopsy with exome sequencing revealed a previously reported homozygous missense variant, c.757G>A, in EpCAM, which was confirmed by histopathological examination.

• Journal of English Language & Literature
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• v.56 no.2
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• pp.301-328
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• 2010

Many recent British novels engage with the construction and deconstruction of history and identity; and in dealing with these historical, or historicised novels it seems to be an untouchable ground that truth is beyond grasp. Even when approached, its authenticity should be examined under the post-modern "incredulity toward metanarrative" discourses. Julian Barnes's 1998 novel England, England may be one of these. Yet, unlike others it achieves a complicated and controversial status as a new kind of historiographic metafiction by providing selfconscious reflections on the invention of innocence and the questionable notion of historical authenticity against the background of current postmodern historical, cultural, and literary explorations. The book, set in a near-future, namely post-post-modern England, starts with a story of a young girl, Martha Cochrane, whose first memory goes back to her early infantile years. Yet, the narrator comments that it is a lie, "her first artfully, innocently arranged lie," since memory, or history, is a product of identity, and vice versa. Her memory of the jigsaw puzzle is both a reminiscent and a significant component of who she is now, both a simulacrum and the original of herself. The correlation between her individual memory and identity parallels that of a region, England, in formation of its history and nationality. "England, England" is the replicated miniature of the former glorious Kingdom as well as a becoming der Ding an sich (the thing itself). In search of the English history and identity, the author satirizes the modern mind's perception of the unreliability and arbitrariness of memory and history, and further explores the alternative to the postmodern discourses by suggesting the probability of inventing innocence glimpsed in children's face "believing while disbelieving." In doing so, the author reconstructs not only the history of Englishness on the ground where nothing seems to be solid, but more importantly also the postmodern theme of relativity in relation to memory, history and identity.

• Journal of English Language & Literature
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• v.55 no.4
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• pp.641-659
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• 2009

Since Plath killed herself in 1963, the theme of death has become one of the central motifs and allusions in her work. The biographical emphasis continues to blur the boundary between the artistic world and the material world. While approaching Plath's work from the perspective of personal experience, the objective of this paper is not to suggest that we encounter Plath's personal voice and emotions directly in her work. Rather, I emphasize how Plath's work of mourning is substantiated in the act of writing. Plath protects herself from the unnamable or the existential void by writing poems. She shows the way in which art or writing enables the subject to confront traumatic memory. While the death drive propels Plath towards destruction, artistic formation serves to alleviate her psychic crisis. What I shall suggest in the paper is how works of art lead the melancholic subject to challenge traumatic events. Plath herself suggests the therapeutic power of language. Plath's hostility toward women as well as men situates her work nearer to the Kristevan psychoanalytic theory which examines depressive anxieties intrinsically linked to the loss of maternal objects. Kristeva's particular focus on the concept of "death-bearing mother" or the unnamable offers a fruitful reading of the representation of infantile fantasies, sexuality, anger, and ambivalence toward lost loved object which clearly dominates most of Plath's poems. Kristeva elaborates mourning and melancholia through the framework of signification and it is of especial relevance in deciphering the recurring death drive and melancholic rage in Plath's work. Melancholic subjects in Plath's work are characterized by an amorphous state, occupying a borderline state regulated by the death drive.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.27 no.1
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• pp.62-70
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• 2024

Purpose: Choledochal cysts are congenital anomalies that occur as localized cystic or fusiform dilatations of the biliary tree. Reflux and stasis of pancreatic enzymes in the biliary duct may relate to the development of intestinal metaplasia which might be an important factor related to the carcinogenesis of choledochal cyst, thus the expression of beta-catenin in the metaplastic epithelium might be associated with malignant transformation of choledochal cyst epithelium. Methods: This study was conducted at a tertiary care pediatric center between October 2014 and March 2017. Forty patients were evaluated for epithelial lining, mural ulceration, fibrosis, inflammation, and metaplasia. Results: Out of 40, 12 cases (30.0%) were the infantile age group and 28 cases (70.0%) were in the classic pediatric group. Ulceration was classified as grade 0 (14 cases, 35.0%), grade 1 (17 cases, 42.5%), or grade 2 (nine cases, 22.5%). Inflammation was classified as grade 0 (2 cases, 5.0%), grade 1 (26 cases, 65.0%), or grade 2 (12 cases, 30.0%). Fibrosis was classified as grade 0 (five cases, 12.5%), grade 1 (11 cases, 27.5%), grade 2 (17 cases, 42.5%), or grade 3 (seven cases, 17.5%). Metaplasia was noted in five (12.5%) out of 40 cases. All choledochal cysts with metaplasia showed beta-catenin nuclear positivity on immunohistochemistry and were followed up. Conclusion: This study emphasizes the importance of detailed histopathological examination and documentation of metaplastic changes. Metaplasia was associated with beta-catenin nuclear positivity. These findings suggest a potential role for beta-catenin as a marker of metaplastic changes in choledochal cysts.

• Journal of Genetic Medicine
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• v.21 no.1
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.