• Perspectives in Nursing Science
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• 제10권1호
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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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• 제20권4호
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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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• 제43권2호
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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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• 제14권1호
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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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• 제25권3호
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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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• 제28권1호
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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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• 제31권12호
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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.

• Childhood Kidney Diseases
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• 제27권1호
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• pp.46-53
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• 2023

Pleuroperitoneal communication (PPC) is a rare mechanical complication of peritoneal dialysis (PD), which causes dialysate to move from the peritoneal cavity to the pleural cavity, resulting in pleural effusion. Typically, PPC is discovered through pleural effusion in PD patients who are not in volume overload status. A unique characteristic of the pleural effusion caused by PPC is that it is not resolved by increasing ultrafiltration by dialysis. In this report, we present a 7-year-old girl with PD after birth with the history of various infectious PD-related complications, presenting with fever ongoing for 6 months. PPC-associated pleuritis was suspected as the cause of fever, which eventually developed after long-term PD and induced complicated pleural effusion, lung inflammation, and prolonged fever for 6 months.

• Journal of Chest Surgery
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• 제47권4호
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• pp.344-349
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• 2014

Background: The Damus-Kaye-Stansel (DKS) procedure is a method for mitigating the risk of systemic ventricular outflow tract obstruction (SVOTO). However, there have been few reports on which surgical technique shows a better outcome. The objective of this study was to compare the outcome of the DKS procedure according to the surgical technique used. Methods: We retrospectively reviewed 12 consecutive patients who underwent the DKS procedure from March 2004 to April 2013. When the relationship of the great arteries was anterior-posterior, the double-barrel technique (group A) was performed. If the relationship was side-by-side, the ascending aortic flap technique (group B) was performed. Results: There was no early mortality and 1 late mortality in group B. There was no statistically significant difference in the median peak pressure gradient of preoperative subaortic stenosis in both groups: 14 mmHg (range, 4 to 53 mmHg) in group A and 15 mmHg (range, 0 to 30 mmHg) in group B (p=0.526). Further, a significant postoperative pressure gradient was not observed in either group A or group B. More than moderate postoperative neoaortic regurgitation was observed in 1 patient of group B; this patient underwent neoaortic valve replacement 66 months after the DKS procedure. No one had a recurrent SVOTO during follow-up. Conclusion: The DKS procedure is an effective way to minimize the risk of SVOTO, and there is little difference in the outcomes of the DKS procedure according to the surgical technique used.

• Advances in pediatric surgery
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• 제15권2호
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• pp.121-131
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• 2009

Intestinal malrotation presents with different clinical characteristics, depending upon the age of the patient. The medical records of 44 patients treated for intestinal malrotation with/without midgut volvuls between January 2002 and August 2009 at Seoul National University Children's Hospital were reviewed retrospectively. Patients were grouped by the age criteria of 1 and 12 months. Fourteen patients were under 1 month of age (31.8 %), 9 patients between 1 month and 12 months (20.5 %) and 21 patients over 12 months (47.7 %). Twenty patients (45.5 %) presented with volvulus. Vomiting (66 %) and abdominal pain (20 %) were the most common symptoms. UGIS (68.2 %) was the most frequent diagnostic tool. Mean postoperative hospital stay was 13.7 days. There were 7 mild postoperative complications. Volvulus was more frequent in patients under 1 month (p=0.025) than over 1 month. The interval between diagnosis and operation was shorter in patients under 1 month (p=0.003) than in patients over one month of age. In the age between under and over 12 months, volvulus was more common in those under 12 months of age, but the difference was not significant. The interval from diagnosis to operation was shorter in patients under 12 months than over 12 months of age (p=0.001). Vomiting was the most frequent symptom in patients under 12 months. On the other hand, abdominal pain was the most frequent symptom in patients over 12 months. In conclusion, patients with intestinal malrotation had age-related differences in the presence of midgut volvulus, the interval between diagnosis and operation, and clinical symptoms. The age of the patient should be considered in order to determine adequate treatment of malrotation.