• Title/Summary/Keyword: Various Disease of Children

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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.

A Study of the Effectiveness of Token Economy on Children′s Behaviors for Oral Medication (토오컨 강화가 입원 아동의 약 복용행위에 미치는 효과)

  • Lee Ja hyung;Kim Il Ok
    • Child Health Nursing Research
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    • v.5 no.3
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    • pp.318-327
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    • 1999
  • Oral medication is one of the most frequent treatment in clinical care. and frequently refused by children. Children's refusal spends unuseful time and require nurses'Patience. So this study was attempted to develop token economy Program which Promote children's medication. and to evaluate its' effect to construct the experimental ground. This study was a quasi experimental study under the nonequivalent control group non-synchronized design. The subjects of this study were 48 children who were aged 3-12 years and admitted pediatric ward because of their respiratory disease. Token economy program was consisted of cartoon record paper with stickers which expresses the better medication is taken the more germs die, and gift was given for back up reinforcer. To evaluate this Program. time spent for oral medication was measured six time to both experimental group and control group. and measured the perceived effectiveness of this program by nurses. To determine the effect of the program, the data were analyzed by the SAS 6.12 Program with t-test and mean, standard deviation. The results of this study were as follows: 1 In experimental group, time spent for oral medication was significantly shorter than in control group(t=5.24. p=0.0001). Therefore, the hypothesis of this study was strongly accepted. 2. Nurses perceived this program as an effective one(mean=3.125~3.792). The effectiveness occurred before. during and after medication as well as in parental responses, especially in using verbal dissatisfaction after medication. In conclusion. it was found that the token economy program for admitted children was effective in inducing the children's behavior of oral medication. There was no effectiveness in very highly anxious children Whereas, it is recommended that this program should not be used for such children until they settle down. If the token economy program was made in various situation with creative thinking, it will be very useful nursing measurement, especially in caring for children. To improve the qualify of nursing care, the various programs, which can give joyfulness to stressed patients should be developed.

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Urinary N-Acetyl-beta-D-Glucosaminidase and beta 2-Microglobulin in Children with Various Renal Diseases (다양한 신장질환 환아들에서 요중 N-Acetyl-beta-D-Glucosamini dase와 beta 2-Microglobulin)

  • Yoon, So-Jin;Shin, Jae-Il;Lee, Jae-Seung;Kim, Hyon-Suk
    • Childhood Kidney Diseases
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    • v.12 no.2
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    • pp.143-149
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    • 2008
  • Purpose : Urinary N-acetyl-beta-D-glucosaminidase(NAG) and beta 2-microglobulin(B2M) is considered to be a marker of tubulointerstitial injury. The aim of this study was to examine the urinary levels of NAG and B2M in children with various renal diseases. Methods : We studied 21 children(8.9$\pm$4.5 years, Male:Female=14:7) and they were divided into three groups: group I(steroid-sensitive nephrotic syndrome-4 patients), group II(various kinds of glomerulonephritis-4 patients), and group III(normal urinalysis or non-glomerular renal diseases-13 patients). Results : Urinary NAG levels in groups I and II were significantly higher than those in group III(19.4$\pm$11.5 and 30.0$\pm$30.1 vs. 4.7$\pm$3.9, P=0.01), while urinary B2M levels did not differ among the 3 groups, although urinary NAG levels were positively correlated with urinary B2M levels(r=0.49, P=0.03). Urinary NAG and B2M levels were all correlated with proteinuria(r=0.79, P<0.001 and r=0.68, respectively, P=0.001) serum albumin(r=-0.72, P<0.001 and r=-0.57, respectively, P=0.01) and cholesterol(r=0.58, P=0.006 and r=0.56, respectively, P=0.013) levels. Conclusions : Urinary excretions of NAG and B2M are increased in children with steroidsensitive nephrotic syndrome and various kinds of glomerulonephritis, suggesting tubular dysfunction might be present in these diseases.

Renal involvement in pediatric rheumatologic diseases

  • Kim, Seong Heon
    • Childhood Kidney Diseases
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    • v.26 no.1
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    • pp.18-24
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    • 2022
  • Pediatric rheumatologic diseases are rare systemic diseases that can involve various organs, including the kidneys. Each rheumatologic disease can exhibit characteristic renal involvement, which requires proper treatment and diagnosis. In this review, we discuss renal involvement in classic rheumatologic diseases, including juvenile idiopathic arthritis, Sjogren's syndrome, systemic sclerosis, and juvenile dermatomyositis. Reviews addressing lupus nephritis and antineutrophil cytoplasmic antibody-associated renal disease are complex and tend to cover a wide array of topics, and thus were excluded from this review.

Updates on the Diagnosis of Helicobacter pylori Infection in Children: What Are the Differences between Adults and Children?

  • Yang, Hye Ran
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.19 no.2
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    • pp.96-103
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    • 2016
  • Helicobacter pylori infection is acquired mainly during childhood and causes various diseases such as gastritis, peptic ulcer disease, mucosa-associated lymphoid tissue (MALT) lymphoma, and iron deficiency anemia. Although H. pylori infection in children differs from adults in many ways, this is often overlooked in clinical practice. Unlike adults, nodular gastritis may be a pathognomonic endoscopic finding of childhood H. pylori infection. Histopathological findings of gastric tissues are also different in children due to predominance of lymphocytes and plasma cells and the formation of gastric MALT. Although endoscopy is recommended for the initial diagnosis of H. pylori infection, several non-invasive diagnostic tests such as the urea breath test (UBT) and the H. pylori stool antigen test (HpSA) are available and well validated even in children. According to recent data, both the $^{13}C$-UBT and HpSA using enzyme-linked immunosorbent assay are reliable non-invasive tests to determine H. pylori status after eradication therapy, although children younger than 6 years are known to have high false positives. When invasive or noninvasive tests are applied to children to detect H. pylori infection, it should be noted that there are differences between children and adults in diagnosing H. pylori infection.

Comparison of oxygen saturation, heart rate of cerebral palsy and normal child between the pre-ambulation and post-ambulation (뇌성마비아동과 정상아동의 보행전후 산소포화도 및 심박수 비교에 관한 연구)

  • Hwang, Joo-Moon;Lee, Wan-Hee
    • Journal of Korean Physical Therapy Science
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    • v.10 no.1
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    • pp.38-46
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    • 2003
  • Since the current tendencies show us the increasing number of cerebral palsy children and the standard longevity, we need to find out more research about the following various problems. Therefore I have tried to figure out the difference of oxygen saturation and heart rate between before ambulation and after. Objects chosen are 17 C.P children on the process of treatment those who were able to walk and 8 normal children in Ah-San hospital, Gang-Nung. They haven't had either any operation or suffered heart disease and I measured their oxygen saturation and heart rate by using pulse-oximeter and are analyzed by SPSS (10.07 version). Results are the followings; 1. There was no difference of oxygen saturation and heart rate between pre-ambulation and post-ambulation of normal and spastic hemiplegia children. 2. There showed the significant statistic difference of oxygen saturation, heart rate between pre-ambulates and post-ambulation of normal and spastic diplegia(p<.05). 3. There was no difference of oxygen saturation, heart rate in C.P between(p>.05), but shows the significant statistic difference in heart rate(p<.05). As I compared the oxygen saturation and heart rate of spastic and normal children on between pre-ambulation and post-ambulation, theres is significant statistic difference on both items (p<.05). However there was no difference of oxygen saturation among hemiplegia, normal and diplegia children while the pulse rate showed the significant difference(p<.05). According to this clinical research, CP children's oxygen saturation and heart rate had no change between pre and post compared to normal children. But there was difference in diplegia. This is why we need to invest time to study these kinds of research about various analysis and comparison of oxygen saturation and heart rate, and furthermore making use of pulse-oxymetry in physical therapy room for the children involved would be beneficial to calculate in accuracy without any discomfort for the patient as well.

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Impact of COVID-19 on the clinical course of nephrotic syndrome in children: a single-center study

  • Min Ji Park;Jung Kwan Eun;Hee Sun Baek;Min Hyun Cho
    • Childhood Kidney Diseases
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    • v.26 no.2
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    • pp.74-79
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    • 2022
  • Purpose: Children with nephrotic syndrome may experience disease relapse or aggravation triggered by various viral infections. Limited studies on the clinical implications of the coronavirus disease 2019 (COVID-19) pandemic in children with nephrotic syndrome have been published worldwide. Therefore, this study aimed to investigate the effects of COVID-19 on the clinical course of nephrotic syndrome in children. Methods: The medical records of 59 patients with idiopathic nephrotic syndrome who visited our hospital between February and June 2022 were retrospectively analyzed. Results: Twenty of the total 59 patients with nephrotic syndrome were diagnosed with COVID-19 during the study period. The mean age at the time of the diagnosis of nephrotic syndrome and COVID-19 in all 20 patients was 4.6±3.5 and 8.9±3.9 years, respectively. Three patients (15%) were diagnosed with nephrotic syndrome relapse during COVID-19 and the relapse rate was similar to them without COVID-19 (20.5%, 8/39 patients). At the time of the COVID-19 diagnosis, fever (85%) and cough (40%) were the most common symptoms. After the diagnosis of COVID-19, all patients showed improvement with symptomatic treatment, including antipyretic analgesics and cold medicine. None of the critical patients required hospitalization or oral antiviral medications. Conclusions: Despite the use of immunosuppressants, the clinical manifestations of COVID-19 in children with nephrotic syndrome were not severe and are expected to be similar to that in the general population. The relapse rate of nephrotic syndrome in children with COVID-19 was also not different from them without COVID-19.

Impact of the Coronavirus Disease Pandemic on Mental Health Among School Students in Korea During the COVID-19 Pandemic

  • Youngsoo Jang;Hye-mi Cho;Young-Eun Mok;Su-hyuk Chi;Changsu Han;Hyun-suk Yi;Moon-Soo Lee
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.34 no.2
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    • pp.63-68
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    • 2023
  • Objectives: The coronavirus disease (COVID-19) pandemic has had various effects on mankind, especially children and adolescents. Because children and adolescents spend a lot of time at school, COVID-19 has had a great impact on school mental health. In this study, we investigated the effect of prolonged COVID-19 on school mental health. Methods: We prepared self-report questionnaires for depression (Children's Depression Inventory, CDI), anxiety (Korean version of the Penn State Worry Questionnaire for Children; Generalized Anxiety Disorder-7, GAD-7), and post-traumatic stress (Primary Care Post-traumatic Stress Disorder, PC-PTSD) for administering to students aged between 7 and 18 years, recruited by a COVID-19 psychological prevention support group in the Gwangmyeong Mental Health Welfare Center for 2 years, in 2020 and 2021. Results: For children aged 7-12 years, there was no significant difference between the years 2020 and 2021 in the assessment of depression, anxiety, and post-traumatic stress. Conversely, for adolescents aged 13-18 years, there was a significant increase in the scale scores (CDI, PC-PTSD, and GAD-7). Conclusion: Prolonged COVID-19 might have had a significant impact on the mental health of adolescents who spent a lot of time at school. When comparing the years 2020 and 2021, middle and high school students were more affected by COVID-19 than elementary school students.

A Case of Neurofibromatosis Combined with Ectopic Kidney (이소성 신장을 동반한 신경섬유종 1례)

  • Yang, Eu Gene;Kim, Bo Hyun;Lee, Joon Soo
    • Clinical and Experimental Pediatrics
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    • v.48 no.4
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    • pp.448-452
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    • 2005
  • Neurofibromatosis(NF) is an autosomal dominant disorder, probably of neural crest origin that affects all three germinal layers. It is a group of heterogeneous multisystemic neurocutaneous disorders involving both neuroectodermal and mesenchymal derivatives. Type 1(von Recklinghausen disease) is the most common neurocutaneous disorder among the eight subtypes. Previous reports showed various involvements in the renal organ. Renovascular hypertension is the most common major manifestation of renal involvement in this disease. However, we experienced a case of ectopic kidney concurrent with neurofibromatosis type 1. The diagnosis of neurofibromatosis had been made by typical skin manifestation on physical examination, and ectopic kidney was discovered accidentally during routine abdominal sonography. The etiological basis of this association is not clear. We report a rare case of coexisting neurofibromatosis and ectopic kidney in a 7-year-old girl with a brief review.