• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제23권5호
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• pp.411-422
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• 2020

With the increasing number of children with inflammatory bowel disease (IBD), very early-onset IBD (VEO-IBD), defined as IBD that is diagnosed or that develops before 6 years of age, has become a field of innovation among pediatric gastroenterologists. Advances in genetic testing have enabled the diagnosis of IBD caused by gene mutations, also known as monogenic or Mendelian disorder-associated IBD (MD-IBD), with approximately 60 causative genes reported to date. The diagnosis of VEO-IBD requires endoscopic and histological evaluations. However, satisfactory small bowel imaging studies may not be feasible in this small population. Both genetic and immunological approaches are necessary for the diagnosis of MD-IBD, which can differ among countries according to the available resources. As a result of the use of targeted gene panels covered by the national health insurance and the nationwide research project investigating inborn errors of immunity, an efficient approach for the diagnosis of MD-IBD has been developed in Japan. Proper management of VEO-IBD by pediatric gastroenterologists constitutes a challenge. Some MD-IBDs can be curable by allogenic hematopoietic stem cell transplantation. With an understanding of the affected gene functions, targeted therapies are being developed. Social and psychological support systems for both children and their families should also be provided to improve their quality of life. Multidisciplinary team care would contribute to early diagnosis, proper therapeutic interventions, and improved quality of life in patients and their families.

• 성인간호학회지
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• 제20권2호
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• pp.341-352
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• 2008

Purpose: The purpose of this study was to identify relatively important predictors of quality of life (QOL) of HSCT recipients among client's characteristics(age, gender, family income, religiosity), HSCT-related characteristics(time since HSCT, type of HSCT, decision maker of HSCT) and social support. Methods: Eighty two participants who had a HSCT were recruited for the study. Data were analyzed by descriptive analysis, pearson's correlation, ANOVA and stepwise multiple regression using SPSS for Window(version 12.0) program to answer the research questions. Results: Family income, time since HSCT and religiosity explained 23.8% of the variance in the QOL of HSCT recipients. HSCT recipients who had higher family income, longer time past since HSCT, and more religious tend to have higher quality of life. Conclusion: Based on the findings of this study, we could know that the HSCT recipients need certain amount of time to recover their QOL after HSCT. Opportunities of reemployment and religious support should be considered when we develop intervention program for HSCT recipients.

• 대한유전성대사질환학회지
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• 제14권1호
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• pp.29-36
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• 2014

Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic diseases caused by deficiency of lysosomal enzymes. MPSs are clinically heterogeneous and characterized by progressive deterioration in visceral, skeletal and neurological functions. The aim of this article is to review the treatment of MPSs, the unmet needs of current treatments and vision for the future including recent clinical trials. Until recently, supportive care was the only option available for the management of MPSs. Hematopoietic stem cell transplantation (HSCT), another potentially curative treatment, is not routinely advocated in clinical practice due to its high risk profile and lack of evidence for efficacy. From the early 2000s, enzyme replacement therapy (ERT) was approved and available for the treatment of MPS I, II and VI. ERT is effective for the treatment of many somatic symptoms, particularly walking ability and respiratory function, and remains the mainstay of MPS treatment. However, no benefit was found in the neurological symptoms because the enzymes do not readily cross the blood-brain barrier (BBB). In recent years, intrathecal (IT) ERT, substrate reduction therapy (SRT) and gene therapy have been rapidly gaining greater recognition as potential therapeutic avenues. Although still under investigation, IT ERT, SRT and gene therapy are promising MPS treatments that may prevent the neurodegeneration not improved by ERT.

• Journal of mucopolysaccharidosis and rare diseases
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• 제3권2호
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• pp.37-40
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• 2017

Mucopolysaccharidosis (MPS) is caused by accumulation of the glycosaminoglycans in all tissues due to decreased activity of the lysosomal enzyme. Patients exhibit multisystemic signs and symptoms in a chronic and progressive manner, especially with changes in the skeleton, cardiopulmonary system, central nervous system, cornea, skin, liver, and spleen. In the past, treatment of MPS was limited to enzyme replacement therapy (ERT). The outcome for affected patients improved with the introduction of new technologies as hematopoietic stem cell transplantation, relegated to specific situations after ERT became available. Intrathecal ERT may be considered in situations of high neurosurgical risk but still it is experimental in humans. New insights on the pathophysiology of MPS disorders are leading to alternative therapeutic approaches, as gene therapy, inflammatory response modulators and substrate reduction therapy. In this paper, we will highlight the recent novel treatment and clinical trials for MPS and discuss with the goal of fostering an understanding of this field.

• 중환자간호학회지
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• 제12권1호
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• pp.46-56
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• 2019

Purpose : The purpose of this study was to identify minimum data sets for oral mucous integrity-related documentation and to analyze nursing records for oral care. Methods: To identify minimum data sets for oral status, the authors reviewed 26 assessment tools and a practical guideline for oral care. The content validity of the minimum data sets was assessed by three nurse specialists. To map the minimum data sets to nursing records, the authors examined 107 nursing records derived from 44 patients who received chemotherapy or hematopoietic stem cell transplantation in one tertiary hospital. Results: The minimum data sets were 10 elements such as location, mucositis grade, pain, hygiene, dysphagia, exudate, inflammation, difficulty speaking, and moisture. Inflammation contained two value sets: type and color. Mucositis grade, pain, dysphagia and inflammation were recorded well, accounting for a complete mapping rate of 100%. Hygiene (100%) was incompletely mapped, and there were no records for exudate (83.2%), difficulty speaking (99.1%), or moisture (88.8%). Conclusion: This study found that nursing records on oral mucous integrity were not sufficient and could be improved by adopting minimum data sets as identified in this study.

• Child Health Nursing Research
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• 제29권4호
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• pp.280-289
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• 2023

Purpose: This study investigated weight status in survivors of childhood acute lymphocytic leukemia (ALL) and identified related factors. Methods: A retrospective review of the electronic medical records of survivors of childhood ALL (n=230) was conducted. We analyzed the survivors' characteristics, including sex, age, weight status at diagnosis, central nervous system involvement, risk classification, length of treatment, radiation therapy, and hematopoietic stem cell transplantation. Analysis of variance and the chi-squared test were applied to investigate influencing factors. Results: The weight status distribution was as follows: 23 individuals (10.0%) were classified as underweight, 151 individuals (65.7%) were healthy weight, and 56 individuals (24.3%) were overweight/obese. Age at diagnosis (F=10.03, p<.001), weight status at diagnosis (x²=43.41, p<.001), and risk classification (F=10.98, p=0.027) showed significant differences among the weight status groups. Survivors who were older at diagnosis and those in the very high-risk category had a higher likelihood of experiencing underweight status during their survivorship, while survivors who were overweight/obese at diagnosis were more likely to remain overweight/obese at the time of survival. Conclusion: Considering the potential health implications related to an unhealthy weight status in survivors of ALL, it is imperative to undertake early identification and implement interventions for at-risk individuals.

• 대한소아치과학회지
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• 제50권4호
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• pp.421-433
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• 2023

This study was to examine the developmental dental abnormalities in childhood cancer survivors. Risk factors were assessed for 125 children with radiographic data through a retrospective analysis of medical records and panoramic images. 68.0% of childhood cancer survivors exhibited at least one dental abnormality. The types of abnormalities varied depending on the age at cancer diagnosis and treatment intensity, ranging from microdontia (43.2%), to abnormal root development (39.2%) and tooth agenesis (33.6%). Logistic regression analysis demonstrated that a young age at diagnosis (under 3 years), the use of heavy metal agents, a history of hematopoietic stem cell transplantation (HSCT), and combination treatment of chemotherapy, radiation therapy, and HSCT were associated with a significantly higher risk for overall dental abnormalities. The increased risk ratios were 6.00, 3.06, 3.22, and 7.87, respectively (p < 0.05). The results of this study will predict dental abnormality in permanent dentition according to the diagnosis age and treatment method of childhood cancer.

• Tuberculosis and Respiratory Diseases
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• 제72권3호
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• pp.284-292
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• 2012

Background: The aim of this study was to investigate therapeutic outcomes and assess factors associated with therapeutic outcomes in hematologic patients with invasive pulmonary aspergillosis (IPA). Methods: We analyzed all consecutive cases of IPA in adults with hematologic diseases from January 2008 to January 2009 at a Catholic Hematopoietic Stem Cell Transplantation (HSCT) Center in Seoul, Korea. Results: A total of 54 patients were identified. Underlying diseases were acute myelogenous leukemia (n=25), acute lymphoblastic leukemia (n=10), myelodysplastic syndrome (n=7), chronic myelogenous leukemia (n=3), multiple myeloma (n=3), severe aplastic anemia (n=2) and other hematologic diseases (n=4). Twenty six patients (48.2%) were assessed as having a favorable response, of which 16 patients (29.6%) showed complete response. Overall 12-week mortality and IPA attributable mortality were 38.9% (n=21) and 33.3% (n=18), respectively. In multivariate analysis, uncontrolled underlying disease (odds ratio [OR], 7.31; 95% confidence interval [CI], 1.49~35.94; p=0.014) was associated with an unfavorable response, and for 12-week mortality, uncontrolled underlying disease (OR, 11.79; 95% CI, 1.49~93.46; p=0.020) and hypoalbuminemia (OR, 9.89; 95% CI, 1.42~68.99; p=0.021) were significantly poor prognostic factors. Conclusion: IPA still remains as a poor therapeutic outcome, especially in patients with refractory hematologic diseases.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.57-59
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• 2016

Chronic granulomatous disease (CGD) is a primary immunodeficiency disease caused by impaired phagocytic function. Hematopoietic stem cell transplantation (HSCT) is a definitive cure for CGD; however, the use of HSCT is limited because of associated problems, including transplantation-related mortality and engraftment failure. We report a case of a patient with CGD who underwent successful HSCT following a targeted busulfan and fludarabine reduced-toxicity myeloablative conditioning. Intravenous busulfan was administered once daily for 4 consecutive days (days -8 to -5), and the target area under the curve was $75,000{\mu}g{\cdot}hr/L$. Fludarabine ($40mg/m^2$) was administered once daily for 6 consecutive days from days -8 to -3. Antithymocyte globulin (2.5 mg/kg/day) was administered from days -4 to -2. The patient underwent successful engraftment and did not have any severe toxicity related to the transplantation. Conditioning with a targeted busulfan and fludarabine regimen could provide a better outcome for HSCT in CGD, with close regulation of the busulfan dose.

• Clinical and Experimental Pediatrics
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• 제56권8호
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• pp.343-350
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• 2013

Purpose: Despite the established role of imatinib (IM) in chronic myelogenous leukemia (CML) in adults, there are few reports on its efficacy in children. In this study, we compared the outcomes of children with CML before and after the advent of IM-based treatment. Methods: The study cohort consisted of 52 patients treated for CML at the Department of Pediatrics, The Catholic University of Korea from January 1995 to October 2010. Patients were divided and analyzed according to the preImatinib group (pre-IMG) and imatinib group (IMG). Results: Median age at diagnosis for the overall cohort (pre-IMG, n=27; IMG, n=25) was 9 years, with a median follow-up duration of survivors of 84 months. Except for 5 patients in the IMG, all were diagnosed in chronic phase (CP). The overall survival (OS) of patients diagnosed in CP was 45.7% and 89.7% for pre-IMG and IMG, respectively (P=0.025). The OS of hematopoietic stem cell transplantation (HSCT) recipients in the 2 groups was similar, but the OS of patients diagnosed in CP who did not receive HSCT was superior in IMG (91.7% vs. 16.7%, P=0.014). Of the 12 patients in IMG who remained on IM without HSCT, 2 showed disease progression, compared to 11 of 12 in pre-IMG. No difference was observed in the progression free survival (PFS) of matched donor HSCT recipients and IM-based treatment recipients. Conclusion: Similar PFS of patients treated with IM and those who received matched donor HSCT underscore the potential of IM as effective first-line treatment in childhood CML.