• Title/Summary/Keyword: childhood cases

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A Case of Nephrogenic Diabetes Insipidus with a Rare X-linked Recessive Mutation in an Infant with Developmental and Growth Retardation Tracked by the Korean National Health Screening Program

  • Kim, Min-Ji;Cho, Jae Young;Park, Ji Sook;Park, Eun Sil;Seo, Ji-Hyun;Lim, Jae-Young;Woo, Hyang-Ok;Youn, Hee-Shang
    • Childhood Kidney Diseases
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    • v.24 no.2
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    • pp.131-137
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    • 2020
  • Nephrogenic diabetes insipidus (DI) is a rare disease in which the patient cannot concentrate urine despite appropriate or high secretion of antidiuretic hormone. Congenital nephrogenic DI is caused by the arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2) gene mutation; the AVPR2 genetic mutation accounts for 90% of the cases. National health screening for infants and children was launched in 2007 in order to prevent accidents and promote public health in infants and children in Korea. The program has been widely used as a primary clinical service in Korea. We treated an infant with faltering growth and delayed development detected by the National health screening program, and diagnosed the problem as nephrogenic DI caused by a rare missense mutation of c.490T>C on the AVPR2 gene. This case can be a good educational nephrogenic DI with a rare AVPR2 mutation, which was well screened and traced by the national health screening program for infants and children in Korea.

Outcome of Surgical Management for Tethered Spinal Cord

  • Lee, Jeong-Ho;Park, Seong-Hyun;Sung, Joo-Kyung;Hwang, Sung-Kyoo
    • Journal of Korean Neurosurgical Society
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    • v.39 no.4
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    • pp.281-285
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    • 2006
  • Objective : The tethered cord syndrome results in progressive neurological deficits. Although it may remain controversial, many physicians recommend definitive surgery to untether the cord as soon as this condition is identified. We retrospectively evaluate the pre-operative and post-operative course of 38 tethered cord patients with spinal dysraphism in an attempt to learn the natural history of the disease and to determine the effectiveness of the surgical treatment. Methods : The medical records, operation notes and radiographs were evaluated. The follow up period ranged from 4 months to 12 years with a mean follow-up of 28.6 months. Twenty-seven patients were younger than 15 years of age. Results : At presentation, 26 of the patients were asymptomatic. In three of 11 adult symptomatic patients, their neurological deficits worsened after trauma or exercise. Improvement of motor strength was documented in two out of 5 patients. Five of nine patients with bladder symptoms improved, however, none had a complete return of their bladder function. Conclusion : Childhood patients were less symptomatic than the adult patients. Adult patients showed progression of their symptoms that were not improved even after the operation in most of the cases. Asymptomatic tethered spinal cord can be symptomatic as time passes by and even at an old age. Future research should be focused on the operative methods to prevent the delayed deterioration after surgery, rather than on the usefulness of preventive surgery in asymptomatic patients.

Prevalence, comorbidities, diagnosis, and treatment of nonallergic rhinitis: real-world comparison with allergic rhinitis

  • Yum, Hye Yung;Ha, Eun Kyo;Shin, Yoon Ho;Han, Man Yong
    • Clinical and Experimental Pediatrics
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    • v.64 no.8
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    • pp.373-383
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    • 2021
  • Rhinitis is among the most common respiratory diseases in children. Nonallergic rhinitis, which involves nasal symptoms without evidence of systemic allergic inflammation or infection, is a heterogeneous entity with diverse manifestations and intensities. Nonallergic rhinitis accounts for 16%-89% of the chronic rhinitis cases, affecting 1%-50% (median 10%) of the total pediatric population. The clinical course of nonallergic rhinitis is generally rather mild and less likely to be associated with allergic comorbidities than allergic rhinitis. Here, we aimed to estimate the rate of coexisting comorbidities of nonallergic rhinitis. Nonallergic rhinitis is more prevalent during the first 2 years of life; however, its underestimation for children with atopic tendencies is likely due to low positive rates of specific allergic tests during early childhood. Local allergic rhinitis is a recently noted phenotype with rates similar to those in adults (median, 44%; range, 4%-67%), among patients previously diagnosed with nonallergic rhinitis. Idiopathic rhinitis, a subtype of nonallergic rhinitis, has been poorly studied in children, and its rates are known to be lower than those in adults. The prevalence of nonallergic rhinitis with eosinophilia syndrome is even lower. A correlation between nonallergic rhinitis and pollution has been suggested owing to the recent increase in nonallergic rhinitis rates in highly developing regions such as some Asian countries, but many aspects remain unknown. Conventional treatments include antihistamines, intranasal corticosteroids, and recent treatments include combination of intranasal corticosteroids with azelastin or decongestants. Here we review the prevalence, diagnosis, comorbidities, and treatment recommendations for nonallergic rhinitis versus allergic rhinitis in children.

A Case Study on Early Childhood Coding Education Program for Convergence of Human Resources (융합인재를 위한 유아 코딩 교육 프로그램 사례 연구)

  • Lyu, Ji-Hyun;Kim, Seung-in
    • Journal of the Korea Convergence Society
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    • v.10 no.8
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    • pp.129-135
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    • 2019
  • The purpose of this study is to propose the future development direction of the program which can apply the fusion education in the fourth industrial revolution era to the class and achieve creative problem solving ability. As a research method, we investigated cases of overseas coding education and conducted in - depth interviews with infants and parents. The results of the case study and in-depth interviews were as follows: First, the children were able to do their own preliminary and reviewing at home. Second, to provide an interesting play program for the young children to participate. Third, It is important that parents and children learn together. In future research, it is anticipated that there will be a positive effect by concrete proposal to secure the weaknesses and to combine existing coding education with interesting education in accordance with domestic characteristics.

Genetic analysis using whole-exome sequencing in pediatric chronic kidney disease: a single center's experience

  • Lee, Hyeonju;Min, Jeesu;Ahn, Yo Han;Kang, Hee Gyung
    • Childhood Kidney Diseases
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    • v.26 no.1
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    • pp.40-45
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    • 2022
  • Purpose: Chronic kidney disease (CKD) has various underlying causes in children. Identification of the underlying causes of CKD is important. Genetic causes comprise a significant proportion of pediatric CKD cases. Methods: In this study, we performed whole-exome sequencing (WES) to identify genetic causes of pediatric CKD. From January to June 2021, WES was performed using samples from pediatric patients with CKD of unclear etiology. Results: Genetic causes were investigated using WES in 37 patients (17 males) with pediatric CKD stages 1 (n=5), 2 (n=7), 3 (n=2), 4 (n=2), and 5 (n=21). The underlying diseases were focal segmental glomerulosclerosis (n=9), congenital anomalies of the kidney and urinary tract including reflux nephropathy (n=8), other glomerulopathies (n=7), unknown etiology (n=6), and others (n=7). WES identified genetic causes of CKD in 12 of the 37 patients (32.4%). Genetic defects were discovered in the COL4A4 (n=2), WT1 (n=2), ACTN4, CEP290, COL4A3, CUBN, GATA3, LAMA5, NUP107, and PAX2 genes. WT1 defects were found in patients whose pathologic diagnosis was membranoproliferative glomerulonephritis, and identification of CUBN defects led to discontinuation of immunosuppressive agents. Genetic diagnosis confirmed the clinical diagnosis of hypoparathyroidism, sensorineural deafness, and renal disease; Alport syndrome; and Joubert syndrome in three of the patients with CKD of unknown etiology (COL4A4 [n=2], CUBN [n=1]). Extrarenal symptoms were considered phenotypic presentations of WT1, PAX2, and CEP290 defects. Conclusions: WES provided a genetic diagnosis that confirmed the clinical diagnosis in a significant proportion (32.4%) of patients with pediatric CKD.

Effects of a Multifaceted Pediatric Delirium Education Program for Pediatric Intensive Care Unit Nurses on their Delirium Knowledge, Self-confidence in Delirium Nursing, and Delirium Assessment Accuracy: A One Group Pretest-Posttest Design (소아중환자실 간호사를 위한 다면적 소아 섬망 교육프로그램이 섬망 지식, 섬망 간호에 대한 자신감, 섬망 사정 정확도에 미치는 효과: 단일군 전후설계)

  • Nam, Song Yi;Choi, Su Jung;Oh, Sa Rang;Chio, Ji Eun;Park, Ki Young
    • Journal of Korean Critical Care Nursing
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    • v.16 no.1
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    • pp.56-70
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    • 2023
  • Purpose : This study aimed to identify the effects of a multifaceted pediatric delirium education program for pediatric intensive care unit (PICU) nurses on their delirium knowledge, confidence in delirium nursing, and delirium evaluation accuracy. Methods : This study used a one-group pretest-posttest design. The participants were 50 nurses in two units of the PICU at S General Hospital in Seoul. All participants took a 1-hour lecture with case-based practice for the first two weeks, and received feedback as they applied the program to clinical practice over the next two weeks. Test measures were completed before and after the four week intervention period for all participants. The delirium evaluation accuracy was measured using the Korean version of the Cornell Assessment of Pediatric Delirium. Data were analyzed using the chi-square and paired t-tests. Results : After the Pediatric Delirium Education Program, nurses' delirium knowledge (x2=11.65, p =.001), confidence in delirium nursing (t=9.71, p<.001), and delirium evaluation accuracy (t=6.07, p<.001) improved significantly. Conclusions : Pediatric delirium education programs for PICU nurses were effective. For active application of the program in clinical practice in the future, various cases of childhood delirium and specific strategies for each subject must be developed. To achieve this, long-term intervention and research for multiple organizations are required.

The Experience and Meaning of Robot Play in Young Children linked to Picture Books (그림책과 연계한 유아 로봇놀이 경험과 의미)

  • An Ji Su;Nam Ki Won
    • The Journal of the Convergence on Culture Technology
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    • v.9 no.5
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    • pp.311-317
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    • 2023
  • The purpose of this study is to qualitatively examine the play experience and meaning of young children who enjoy the appreciation of picture books based on the 2019 revised Nuri curriculum centered on children and play, and furthermore, various play imaginations and ideas in picture books are realized by T robot. The collected various play cases were analyzed by arranging them into play flow diagrams centering on each picture book, and based on this, the meaning of play was discovered by categorizing play through reading the meaning of play. Therefore, this study is meaningful in that it supports <Picture Book-linked Young Children's Robot Play>, a play experience in which various playful imaginations in picture books are realized by young children's robots, and examines the experience of creatively creating play led by young children in depth, and furthermore, it is valuable in providing a basis for the direction of play-centered SW education centered on young children.

Legal-systematic alternative to domestic Violence: Therapeutic Jurisprudence (가정폭력에 대한 법제도적 대안: 치료적 사법이념의 관점)

  • Kwang-Bai Park;Hyung-KI Ji
    • Korean Journal of Culture and Social Issue
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    • v.10 no.spc
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    • pp.69-86
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    • 2004
  • A review of literature revealed that damaged self-confidence of men as social agents may be the primary, if not proximal, cause of domestic violence. Accumulated damages in social confidence and self-assurance may be moderated by action repertoire acquired during childhood, and mediated by adulthood circumstances such as marital discords and the lack of social support to result in the typical cycle of violence and subsequent feeling of remorse. The present treatments for the domestically violent men in Korea seem to be ineffective to reduce the number of incidents in the society because the treatments are viewed as punishments by the men, damage their social confidence further by stigmatizing them in the community, and destroy their social resources and support systems. It was suggested in this paper to reduce the role of law enforcement and correctional administration to rehabilitate the currently violent men. At the same time, it was also suggested for the Korean court to implement the paradigm of Therapeutic Jurisprudence in handling domestic violence cases. It was argued that the court should take active roles as a healing and rehabilitating agent by cooperating with non-government community establishments such as hospitals, universities and self-help organizations. The reasons and implications of those suggestions were discussed in detail.

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Clinical and Imaging Features of Cystic Fibrosis in Korean Children (한국인 소아에서의 낭포성 섬유증의 임상 및 영상 소견)

  • Yong Jae Kwon;So-Young Yoo;Tae Yeon Jeon;Ji Hye Kim;Ji Eun Park
    • Journal of the Korean Society of Radiology
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    • v.84 no.6
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    • pp.1257-1265
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    • 2023
  • Cystic fibrosis (CF) is a fatal hereditary disorder that primarily affects Caucasians and is rare in Asian populations, including Koreans. Diagnosing CF is often challenging and delayed owing to its rarity and its overlapping features with non-CF diseases, ultimately affecting the patient prognosis. Radiologists can provide initial clues for clinically unsuspected cases and play a crucial role in establishing an early childhood diagnosis. This pictorial essay reviews the clinical and imaging features of genetically confirmed CF in Korean children and increases awareness of this rare disease, thereby facilitating early diagnosis.

Clinical Dilemmas for the Diagnosis and Treatment of Helicobacter pylori Infection in Children: From Guideline to Practice

  • Susanne Jenneke Van Veen;Elvira Ingrid Levy;Koen Huysentruyt;Yvan Vandenplas
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.27 no.5
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    • pp.267-273
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    • 2024
  • Helicobacter pylori infection is often acquired in early childhood. While most infected children remain asymptomatic, H. pylori can cause chronic gastritis, gastric ulceration, and, in the long term, gastric cancer. This article aimed to review different diagnostic and treatment options and discuss the challenges associated with applying the current guidelines in the real world. Relevant articles published from 2015 to August 2023 in the English language in PubMed and Medline electronic databases were extracted using subject headings and keywords of interest to the topic. References of interest in the selected articles were also considered. Invasive and noninvasive diagnostic tests have advantages but also disadvantages and limitations according to the clinical setting and age of the child. Guidelines recommend not performing diagnostic testing in children with long-lasting or recurrent abdominal complaints or cases of a family history of severe disease caused by H. pylori. However, parents regularly consult with the explicit demand to test for H. pylori because of them or a close family member experiencing severe gastric disease caused by H. pylori. In some situations, it may be challenging for the healthcare professional to stick to evidence-based guidelines and not consider "patient-centered care," with the risk of putting a trustful relationship in danger. Physicians may find it challenging not to perform diagnostic tests for H. pylori and prescribe eradication treatment in specific clinical settings when maintaining a trusting patientphysician relationship by applying this "patient-centered care" method when evidence-based guidelines recommend differently.