• 대한유전성대사질환학회지
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• 제13권1호
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• pp.48-53
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• 2013

Tyrosinemia I (fumarylacetoacetate hydrolase deficiency) is an autosomal recessive inborn error of tyrosine metabolism that produces liver failure in infancy or a more chronic course of liver disease with cirrhosis, often complicated by hepatocellular carcinoma in childhood or early adolescence. We studied a 37-year-old woman with tyrosinemia I whose severe liver disease in infancy and rickets during childhood were resolved with dietary therapy. From 14 years of age, she resumed unrestricted diet with the continued presence of the biochemical features of tyrosinemia, yet maintained normal liver function. In adult years, she accumulated only a small amount of succinylacetone. Despite this evolution to a mild biochemical and clinical phenotype, she eventually developed hepatocellular carcinoma. Her fumarylacetoacetate hydrolase genotype consists of a splice mutation, IVS6-1G>T, and a novel missense mutation, p.Q279R. Studies of resected liver revealed the absence of hydrolytic activity and immunological expression of fumarylacetoacetate hydrolase in tumour. In the non-tumoral areas, however, 53% of normal hydrolytic activity and immunologically present fumarylacetoacetate hydrolase were found. This case demonstrates the high risk of liver cancer in tyrosinemia I even in a seemingly favorable biological environment. In this study of tyrosinemia I, Case 2 with negative succinylacetone accumulation and the recovery of acute liver failure was compared with Case 1. Diet restriction and NTBC treatment are crucial to prevent hepatocellular carcinoma until liver transplant can take place and cure the condition. Further studies are needed to examine cases where liver cancer did not result despite clinical symptoms/signs of tyrosinemia type I.

• 대한치위생과학회지
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• 제3권1호
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• pp.15-24
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• 2020

Background: The program aims to enable the participants to receive oral health care with sustainability and give them the choice and prior autonomy of dental practitioners while enhancing the benefits of sustainability. The purpose of this study is to investigate the necessity, awareness, and satisfaction of the implementation of the registered dentist program for children and adolescents, and to promote the introduction of RDPCA. Methods: The survey targeted adult residents in their 20s or older who live in Seoul, an area that continuously implements the RDPCA system, especially in the cities of Cheonan and Asan Results: 79.7% were the most unaware. However, RDPCA participants were significantly more aware than non-participants. When surveying the desire to participate in RDPCA, 96.6% of the respondents said they would 'participate' in the non-RDPCA participate group. The analysis of the satisfaction level of the RDPCA received by their children indicated that 48.6% expressed their satisfaction, and 47.3% said they were healthy. There was a high percentage of people who said they would recommend RDPCA to others as well as a high rate of those who said they would continue to use RDPCA. Conclusions: The reality is that the awareness and implementation of RDPCA are low. For the development of oral health care programs for all children and adolescents in Korea, and the improvement of the satisfaction level of the dental care system, there should be an active consideration of high-quality programs and.

• Clinical and Experimental Pediatrics
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• 제64권12호
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• pp.652-660
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• 2021

Background: Viral load and shedding duration are highly associated with the transmission of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection. However, limited studies have reported on viral load or shedding in children and adolescents infected with sudden acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Purpose: This study aimed to investigate the natural course of viral load in asymptomatic or mild pediatric cases. Methods: Thirty-one children (<18 years) with confirmed SARS-CoV-2 infection were hospitalized and enrolled in this study. Viral loads were evaluated in nasopharyngeal swab samples using real-time reverse transcription polymerase chain reaction (E, RdRp, N genes). cycle threshold (Ct) values were measured when patients met the clinical criteria to be released from quarantine. Results: The mean age of the patients was 9.8 years, 18 (58%) had mild disease, and 13 (42%) were asymptomatic. Most children were infected by adult family members, most commonly by their mothers. The most common symptoms were fever and sputum (26%), followed by cough and runny nose. Nine patients (29%) had a high or intermediate viral load (Ct value≤30) when they had no clinical symptoms. Viral load showed no difference between symptomatic and asymptomatic patients. Viral rebounds were found in 15 cases (48%), which contributed to prolonged viral detection. The mean duration of viral detection was 25.6 days. Viral loads were significantly lower in patients with viral rebounds than in those with no rebound (E, P=0.003; RdRp, P=0.01; N, P=0.02). Conclusion: Our study showed that many pediatric patients with coronavirus disease 2019 (COVID-19) experienced viral rebound and showed viral detection for more than 3 weeks. Further studies are needed to investigate the relationship between viral rebound and infectiousness in COVID-19.

• Journal of Trauma and Injury
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• 제18권2호
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• pp.135-140
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• 2005

Backgrounds: Dog bite is the most common cause of animal bites. This study was conducted to analyze dog bite patients and to compare the differences of groups based on age. Methods: We performed a retrospective analysis of patients admitted to our hospital after dog bite injuries from January 2003 through December 2004. The patients were divided into two groups based on age; group A (children, < 15 years) and group B (adult, ${\geq}15years$). Results: A total of 103 patients were enrolled in the study. Dog bite injury frequently occurred to children under 10 years of age (21%). Home was the most common place of dog bite in group A, but public place was the most common in group B (p=0.000). Face was the most frequent body region of dog bite in group A, but hand was the most frequent in group B (p=0.039). Conclusions: From this study, we found statistically significant differences between the groups. Knowledge about age-related characteristics could result in improved prevention and treatment of these injuries.

• Clinical and Experimental Pediatrics
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• 제56권1호
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• pp.8-12
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• 2013

Asthma is associated with increased levels of eosinophils in tissues, body fluids, and bone marrow. Elevated levels of eosinophil-derived neurotoxin (EDN) and eosinophil cationic protein (ECP) have been noted in asthma patients. Higher levels of EDN and ECP are also associated with exacerbated asthmatic conditions. Thus, EDN, along with ECP, may aid the diagnosis and monitoring of asthma. Several groups have suggested that EDN is more useful than ECP in evaluating disease severity. This may partially be because of the recoverability of EDN (not sticky, 100% recovery rate), as ECP is a sticky and more highly charged protein. In terms of clinical utility, EDN level is a more accurate biomarker than ECP when analyzing the underlying pathophysiology of asthma. As a monitoring tool, EDN has shown good results in children with asthma as well as other allergic diseases. In children too young to fully participate in lung function tests, EDN levels may be useful as an alter native measurement of eosinophilic inflammation. EDN can also be used in adult patients and in multiple specimen types (e.g., serum, sputum, bronchoalveolar lavage fluid, and nasal lavage fluid). These results are repeatable and reproducible. In conclusion, EDN may be a novel biomarker for the diagnosis, treatment, and monitoring of asthma/allergic disease.

• Advances in pediatric surgery
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• 제14권2호
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• pp.189-195
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• 2008

Colorectal cancer is extremely rare in children. Unlike adult colorectal cancer, the overall prognosis of colorectal cancer in children is poor. Delayed diagnosis, advanced stages of the disease at presentation, and mucinous type of histology are the major determinants of poor outcome in childhood. A 13-year-old boy with abdominal pain visited our hospital. Physical examination andabdominal ultrasonography identified acute appendicitis with perforation. He underwent appendectomy and then the pathologic findings revealed mucinous adenocarcinoma. The cancer was located at the transverse colon and had metastases on peritoneal wall at $2^{nd}$ laparotomy. Extended right hemicolectomy was performed. He underwent palliative chemotherapy. After 4 months later, hepatic metastasis and aggravated peritoneal seedings developed. He died of renal failure and pneumonia 13 months after operation. We need to have a high index of suspicion for the possibility of a malignant colorectal tumor in any childhood case with nonspecific signs and symptoms.

• Journal of Korean Neurosurgical Society
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• 제62권3호
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• pp.313-320
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• 2019

Brain tumors are the second most common type of structural brain lesion that causes chronic epilepsy. Patients with low-grade brain tumors often experience chronic drug-resistant epilepsy starting in childhood, which led to the concept of long-term epilepsy-associated tumors (LEATs). Dysembryoplastic neuroepithelial tumor and ganglioglioma are representative LEATs and are characterized by young age of onset, frequent temporal lobe location, benign tumor biology, and chronic epilepsy. Although highly relevant in clinical epileptology, the concept of LEATs has been criticized in the neuro-oncology field. Recent genomic and molecular studies have challenged traditional views on LEATs and low-grade gliomas. Molecular studies have revealed that low-grade gliomas can largely be divided into three groups : LEATs, pediatric-type diffuse low-grade glioma (DLGG; astrocytoma and oligodendroglioma), and adult-type DLGG. There is substantial overlap between conventional LEATs and pediatric-type DLGG in regard to clinical features, histology, and molecular characteristics. LEATs and pediatric-type DLGG are characterized by mutations in BRAF, FGFR1, and MYB/MYBL1, which converge on the RAS-RAF-MAPK pathway. Gene (mutation)-centered classification of epilepsy-associated tumors could provide new insight into these heterogeneous and diverse neoplasms and may lead to novel molecular targeted therapies for epilepsy in the near future.

• Investigative Magnetic Resonance Imaging
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• 제23권3호
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• pp.251-258
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• 2019

Purpose: To assess the feasibility of the use of spin-echo echo-planar imaging (SE-EPI) magnetic resonance elastography (MRE) in livers of children and young adults. Materials and Methods: Patients (${\leq}20$ years old) who underwent 3T SE-EPI MRE were included retrospectively. Subjects were divided into three groups according to the purpose of the liver MRI: suspicion of fatty liver or focal fat deposition in the liver (FAT group), liver fibrosis after receiving a Kasai operation from biliary atresia (BA group), and hepatic iron deposition after receiving chemotherapy or transfusions (IRON group). Technical failure of MRE was defined when a stiffness map showed no pixel value with a confidence index higher than 95%, and the patients were divided as success and failure groups accordingly. Clinical findings including age, gender, weight, height, and body mass index and magnetic resonance imaging results including proton density fat fraction (PDFF), $T2^*$, and MRE values were assessed. Factors affecting failure of MRE were evaluated and the image quality in wave propagation image and stiffness map was evaluated using the appropriate scores. Results: Among total 240 patients (median 15 years, 211 patients in the FAT, 21 patients in the BA, and 8 patients in the IRON groups), technical failure was noted in six patients in the IRON group (6/8 patients, 75%), while there were no failures noted in the FAT and BA groups. These six patients had $T2^*$ values ranging from 0.9 to 3.8 ms. The image quality scores were not significantly different between the FAT and BA groups (P > 0.999), while the scores were significantly lower in the IRON group (P < 0.001). Conclusion: The 3T SE-EPI MRE in children and young adults had a high technical success rate. The technical failure was occurred in children with decreased $T2^*$ value (${\leq}3.8ms$) from iron deposition.

• 한국비블리아학회지
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• 제33권1호
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• pp.425-454
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• 2022

본 연구는 국내에 출판된 어린이·청소년 성교육 도서 중 가장 널리 읽히는 도서 77권을 선정하여 도서가 포함하는 주제와 표현 방식, 주요 대상 독자의 특성, 저자의 직업 등 다양한 기준을 바탕으로 성교육 도서의 현황을 분석하였다. 유네스코 국제 성교육 가이드 2018 개정판에 제시된 주제 중 분석 대상 도서에서 가장 많이 언급된 것은 어린이·청소년이 자신의 감정과 몸에 관해 알고자 하는 것이 자연스러운 일이며 책을 통해 스스로 배워나갈 수 있다는 이야기였다. 자신의 신체에 대한 존중, 성 및 재생산과 관련된 기관에 관한 지식, 난자와 정자, 월경 주기, 호르몬의 역할 등도 자주 등장하는 주제였다. 가장 언급되지 않은 주제는 HIV와 AIDS, 젠더 기반 폭력에 관한 내용이었다. 전체 도서의 63.5%가 줄글책이었으며, 그림책과 만화책, 사진 삽화 그림책 등의 형식도 있었다. 2019년을 기점으로 특정 성별의 독자를 염두에 둔 책의 출판이 활발해졌으며, 성교육 도서를 집필하는 저자의 직업군도 다양해졌다. 모든 어린이와 청소년이 자신을 충분히 탐색하고 성장할 수 있게 도우면서, 동시에 타인을 깊이 이해하고 평화롭게 공존할 수 있도록 성교육 도서의 역할과 범위에 대해 더 많은 고민과 논의가 이루어져야 할 것이다.

• 재활복지
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• 제17권4호
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• pp.371-382
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• 2013

최근 인공와우 이식 수술에 대한 건강보험이 확대 되면서 이식자들의 수는 늘어나게 되었다. 2005~2009년 사이 최근 6년간 인공와우 수술을 받은 환자는 약 3,300여명이 이르며 그 중 성인의 인공와우 이식 수가 늘어가는 양상을 보이고 있다. 어린 아동의 경우 인공와우 이식 후 청능훈련을 적극적으로 받으며 관련 연구도 많이 있지만 성인에 대한 이식 후 청능훈련에 대한 연구는 많지 않다. 본 연구는 언어습득이후 인공와우를 이식한 성인여자(54세) 1명을 대상으로 Ling 6 sound test, 표준화된 자음과 모음 듣기 검사, 문장 검사 그리고 실생활에 필요한 환경음과 단어의 인지 및 확인 평가 도구를 이용하여 10주간 청능훈련을 실시하였다. 10주간의 청능 훈련 결과, 대상자는 Ling 6 sound의 모든 음소를 확인하였으며 표준화된 자모음과 문장 듣기 검사에서도 100%에 가까운 수행력을 보였다. 또한 실생활에 환경음과 단어의 인지 및 확인은 57%에서 95%까지 수행력이 개선되었다. 본 연구 결과는 성인을 대상으로 한 청능훈련은 체계적이고 효과적인 계획과 개인의 특성을 고려한 재활 프로그램이 필요함을 보여주었다.