• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.3
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• pp.196-200
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• 2014

Co-existing pyloric submucosal masses with hypertrophic pyloric stenosis (HPS) are very rare and treating these lesions is always a problem. A 20-day-old boy presented with recurrent episodes of projectile non-bilious vomiting lasting for 5 days. HPS was suspected due to the presenting age and the symptoms. The sonography demonstrated not only circumferential wall thickening of the pylorus, but also a pyloric submucosal mass. At laparotomy, a 0.8 cm sized pyloric submucosal mass was identified along with a hypertrophied pylorus. Pyloric excision was performed due to the possibility of sustaining the symptoms and malignancy. The pathological report of the submucosal mass was ectopic pancreas. Coexisting pyloric lesions can be diagnosed along with HPS, and surgical excision, not just pyloromyotomy, should be considered in these circumstances. To the best of our knowledge, this is the first case report of pyloric ectopic pancreas and HPS to be diagnosed concurrently.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.1
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• pp.55-60
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• 2017

Intestinal hypoganglionosis is a rare innervation disorder that provides numerous nutritional, medical and surgical challenges. In this case report, we present a case of a newborn with intestinal hypoganglionosis leading to intestinal failure and intestinal failure-associated liver disease who responded to $Omegaven^{TM}$, a fat emulsion comprised of omega-3 fatty acids. $Omegaven^{TM}$ has been shown to be beneficial in the management of cholestatic liver injury. Clinical success with $Omegaven^{TM}$ was seen in this patient with a clear decrease in aspartate aminotransferase, alanine aminotransferase, alkaline phosphatase and complete resolution of cholestasis with a direct bilirubin of zero within two weeks of initiation of $Omegaven^{TM}$. No current guidelines for the diagnosis and management of hypoganglionosis are available. We recommend a multidisciplinary approach and the use of novel therapies such as fat emulsions composed of omega-3 fatty acids for improved patient outcomes. Appropriate compassionate use protocols should be obtained from the Food and Drug Administration prior to initiation of $Omegaven^{TM}$.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.58-61
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• 2011

Cases of interstitial deletions of the long arm of chromosome 17 are very rare, with only nine cases ever reported worldwide. We describe a 12-year-old boy with profound developmental delay, microcephaly, facial dysmorphism, contracture of the large joints and bilateral hearing loss. A chromosomal study using a peripheral blood sampled revealed 46,XY,del(17)(q22q23). To our knowledge, he is the first case of interstitial deletion of the long arm of chromosome 17 ever reported in Korea.

• Perspectives in Nursing Science
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• v.10 no.1
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• pp.1-11
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• 2013

Purpose: Given the importance and impact of trust between nurse and pediatric patient on treatment adherence and nursing outcomes, this study was aimed to investigate how nurses perceive the trust between nurses themselves and children in a hospital setting using a qualitative research methodology. Methods: In depth interviews with 10 nurses working at pediatric units were conducted using semi-structured questionnaires, and data were analyzed using a thematic analysis. Results: Main themes were categorized as attributes of nurse-child trust and influencing factors. Attributes of trust can be divided into definition and characteristics of nurse-child trust. Nurses perceived nurse-child trust were not coercive, and changeable mutual relationship needing time and effort, and helpful for child's hospital adaptation and child's participation for care. There existed facilitating factors and interfering factors in developing nurse-child trust. Conclusion: The findings of this study would help nurses who are caring children in a hospital setting re-shape their points of views on 'trust between nurses and children' in day to day practice. It is also hoped that these results contribute to develop nursing guidelines on trust building with children in hospital in future.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.4
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• pp.259-262
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• 2017

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.

• Molecules and Cells
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• v.43 no.2
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• pp.145-152
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• 2020

RUNX1 plays an important role in the regulation of normal hematopoiesis. RUNX1 mutations are frequently found and have been intensively studied in hematological malignancies. Germline mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). Somatic mutations of RUNX1 are observed in various types of hematological malignancies, such as AML, acute lymphoblastic leukemia (ALL), myelodysplastic syndromes (MDS), myeloproliferative neoplasm (MPN), chronic myelomonocytic leukemia (CMML), and congenital bone marrow failure (CBMF). Here, we systematically review the clinical and molecular characteristics of RUNX1 mutations, the mechanisms of pathogenesis caused by RUNX1 mutations, and potential therapeutic strategies to target RUNX1-mutated cases of hematological malignancies.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.23-26
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• 2017

Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.

• Child Health Nursing Research
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• v.25 no.3
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• pp.324-332
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• 2019

Purpose: Epilepsy is the most common neurological disorder in childhood. Hospital nurses, who are the first to recognize seizures in epilepsy patients in the ward environment, possess expertise related to epilepsy and play a central role in epilepsy management. The purpose of this study was to develop an algorithm-based education program and to improve nurses' knowledge and self-efficacy related to providing nursing care to children with epilepsy. Methods: The education program consisted of lectures on the definition, cause, classification, diagnosis, treatment, and nursing of epilepsy based on a booklet, as well as practice using an algorithm for nursing interventions when a child experiences a seizure. Twenty-seven nurses working at pediatric neurological wards and a pediatric emergency room participated in the education program. The data were analyzed using descriptive statistics and the paired t-test. Results: Nurses' knowledge and self-efficacy showed a statistically significant improvement after participation in the education program on nursing care for children with epilepsy. Conclusion: The application of this education program for hospital setting is expected to improve nurses' capability to care for children with epilepsy, thereby contributing to a higher quality of nursing.

• Neonatal Medicine
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• v.28 no.1
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• pp.59-63
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• 2021

An important, albeit rare, cause of fetal bradycardia is long QT syndrome (LQTS). Congenital LQTS is an ion channelopathy caused by mutations in genes encoding cardiac ion channel proteins. Fetal onset of LQTS imposes high risk of life-threatening tachyarrhythmias and sudden cardiac death. Here, we report the case of a female newborn with fetal onset of bradycardia and a 2:1 atrioventricular (AV) block. After birth, a 12-lead electrocardiogram (ECG) revealed bradycardia with QT prolongation of a corrected QT (QTc) interval of 680 ms and pseudo 2:1 AV block. Genetic testing identified a heterozygous Gly402Ser (c.1204G>A) mutation in CACNA1C, confirming the diagnosis of LQTS type 8 (LQT8). The patient received propranolol at a daily dose of 2 mg/kg. Mexiletine was subsequently administered owing to the sustained prolongation of the QT interval and pseudo 2:1 AV block. One week after mexiletine inception, the ECG still showed QT interval prolongation (QTc, 632 ms), but no AV block was observed. There were no life-threatening tachyarrhythmias in a follow-up period of 13 months.

• Journal of Microbiology and Biotechnology
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• v.31 no.12
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• pp.1722-1731
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• 2021

The genus Streptomyces is intensively studied due to its excellent ability to produce secondary metabolites with diverse bioactivities. In particular, adequate precursors of secondary metabolites as well as sophisticated post modification systems make some high-yield industrial strains of Streptomyces the promising chassis for the heterologous production of natural products. However, lack of efficient genetic tools for the manipulation of industrial strains, especially the episomal vector independent tools suitable for large DNA fragment deletion, makes it difficult to remold the metabolic pathways and streamline the genomes in these strains. In this respect, we developed an efficient deletion system independent of the episomal vector for large DNA fragment deletion. Based on this system, four large segments of DNA, ranging in length from 10 kb to 200 kb, were knocked out successfully from three industrial Streptomyces strains without any marker left. Notably, compared to the classical deletion system used in Streptomyces, this deletion system takes about 25% less time in our cases. This work provides a very effective tool for further genetic engineering of the industrial Streptomyces.