• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제24권2호
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• pp.218-229
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• 2021

Purpose: Serological tests of tissue transglutaminase (TTG) and deamidated gliadin (DGP) antibodies for celiac disease diagnosis show conflicting correlation with histology in young children and in type 1 diabetes mellitus (T1DM). Tests' ability to predict histology and cutoff values based on age and T1DM was evaluated. Methods: A retrospective study of children who had celiac serological tests between 6/1/2002 and 12/31/2014 at a pediatric hospital. Results: TTG IgA displayed similar results in predicting histology between <4.0 and ≥4.0 years age groups with sensitivity 98% and 93%, and specificity 88% and 86%, respectively. In children <4.0 years old, sensitivity for DGP antibodies was 100% and specificity 94%; in ≥4.0 years age groups, sensitivity was 60%, 88% for DGP IgA and IgG and specificity 95%, 96%, respectively. TTG IgA had low specificity in patients with T1DM compared with non-T1DM, 42% vs. 91%. Positive TTG IgA with normal histology was associated with higher T1DM prevalence at 36% compared with negative tests at 4%. Finally, the TTG IgA cutoff value was higher in T1DM at 36 vs. 16.3 units in non-T1DM. DGP IgG cutoff showed similar values between age groups; TTG IgA and DGP IgA cutoffs were lower in <4.0 years at 8.3 and 11.9 units than ≥4.0 years at 23.4 and 19.9, respectively. Conclusion: TTG IgA is sufficient for the <4.0 years age group and DGP antibodies had no advantage over TTG IgA in older children. The cutoff value to determine a positive TTG IgA should be higher for children with T1DM.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.33-37
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• 2013

Purpose: Myotonic dystrophy 1 (DM1, OMIM 160900) is an autosomal-dominant muscular disorder caused by an expansion of CTG repeats in the 3' UTR of the DMPK gene. Variable expansions of CTG repeats preclude the accurate determination of repeat size. We tried to show the clinical and analytical validity of the application of Southern blotting after long-range PCR was demonstrated in Korean DM1 patients. Materials and Methods: The Southern blotting of long-range PCR was applied to 1,231 cases with clinical suspicion of DM1, between 2000 and 2011. PCR was performed using genomic DNA with forward 5'-CAGTTCACAACCGCTCCGAGC-3' and reverse 5'-CGTGGAGGATGGAACACGGAC-3' primers. Subsequently, the PCR fragments were subjected to gel electrophoresis, capillary transfer to a nylon membrane, hybridization with a labeled (CAG)10 probe. The correlation between clinical manifestations and the CTG repeat expansions were analyzed. Results: Among a total of 1,231 tested cases, 642 individuals were diagnosed with DM1 and the range of the detected expansion was 50 to 2,500 repeats; fourteen cases with mild DM1 ($75{\pm}14$ repeats), 602 cases with classical DM1 ($314{\pm}143$ repeats), and 26 cases with congenital DM1 ($1,219{\pm}402$ repeats). The positive and negative predictive values were 100%. The age at test requested and the CTG repeat numbers were inversely correlated (R=-0.444, P<0.01). Conclusion: This study indicates that Southern blotting after long-range PCR is a reliable diagnostic method DM1.

• Clinical and Experimental Pediatrics
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• 제54권2호
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• pp.45-50
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• 2011

Compared to that in the Caucasian population, type 1 diabetes mellitus (T1DM) incidence rates are very low in Koreans. Therefore, compared to the recent development of pharmacological therapy applicable to Korean children with T1DM, interest in nonpharmacological therapy and psychosocial support systems remains low, as is the development of Korean-style T1DM education programs for therapeutic application. Children who have been newly diagnosed with diabetes are placed in completely new environments for treatment. For appropriate control of diabetes, patients have to self-monitor blood glucose levels and inject insulin several times a day and must use extreme self-control when they eat foods to avoid increases in blood glucose levels. Blood glucose excursions resulting from impaired pancreatic ${\beta}$ cell functions cause mental stress due to vague fears of chronic complications of diabetes. In addition, children with diabetes cannot be excluded from the substantial amount of studies required of Korean adolescents, and the absolute shortage of time for ideal control of diabetes adds to their mental stress. Many of these patients are psychologically isolated in school where they spend most of their time, and they are not appropriately considered or supported with respect to blood glucose control in many cases. In this respect, this author will introduce some of the newest views on nonpharmacological therapy and psychosocial support systems that account for important parts of T1DM management and seek measures to apply them in conformity with the social characteristics of Korea.

• Journal of Yeungnam Medical Science
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• 제39권1호
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• pp.46-52
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• 2022

Background: The coronavirus disease 2019 (COVID-19) outbreak in the Daegu-Gyeongbuk area in 2020 has caused difficulties in the daily life and hospital care of children with type 1 diabetes mellitus (T1DM). We detected an increase in blood sugar levels in these children and the number of patients hospitalized with more severe diabetic ketoacidosis (DKA) compared to those before COVID-19. Methods: This single-center study was conducted at Kyungpook National University Children's Hospital. The following patient groups were included; 45 returning patients diagnosed with T1DM and undergoing insulin treatment for more than 2 years and 20 patients newly diagnosed with T1DM before and after COVID-19 were selected by age matching. Returning patients before and after the outbreak were selected, and changes in hemoglobin A1c (HbA1c) levels were retrospectively reviewed. The HbA1c levels and severity of symptoms in newly diagnosed patients during hospitalization were examined. Results: HbA1c levels in returning patients with T1DM were significantly increased after COVID-19 (before, 7.70%±1.38% vs. after, 8.30%±2.05%; p=0.012). There were 10 and 10 newly diagnosed patients before and after COVID-19, respectively. The proportion of patients with drowsiness and dyspnea at the time of admission was higher after COVID-19 than before (before, 2 of 10 vs. after, 4 of 10). The HbA1c levels were higher in newly diagnosed patients hospitalized after COVID-19 than before (before, 11.15% vs. after, 13.60%; p=0.036). Conclusion: Due to COVID-19 in the Daegu-Gyeongbuk area, there was an increase in blood glucose levels in children with T1DM and in the incidence of severe DKA in newly diagnosed diabetes mellitus patients.

• Journal of Interdisciplinary Genomics
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• 제4권1호
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• pp.7-10
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• 2022

Purpose:Maturity onset diabetes of the young (MODY) is the most common hereditary form of diabetes mellitus (DM), with similar clinical manifestations to type 1 or type 2 DM, leading to diagnostic ambiguity. Despite increased genetic research on monogenic DM, studies with Asian populations are limited. Therefore, we investigated mutation in possible monogenic DM and MODY in Korean children and aldolescents. Methods: Targeted panel exome sequencing including 32 targets genes was performed for 41 patients with suspected monogenic DM at Kyungpook National University Children's Hospital. Results: Variants were detected in 19 patients, including those in known MODY-associated genes (HNF4A, GCK, HNF1A, CEL, PAX4, INS, and BLK) and monogenic DM-associated genes (WFS1, FRX6, and GLIS3). Conclusion: MODY variants were detected more than expected. Targeted exon sequencing is helpful in diagnosing MODY or possible monogenic DM patients.

• Journal of mucopolysaccharidosis and rare diseases
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• 제2권2호
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• pp.35-37
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• 2016

Prader-Willi syndrome (PWS) often develops type 2 diabetes mellitus (T2DM) related to severe obesity. The prevalence of T2DM in adults with PWS (7-20%) exceeds greatly the prevalence in the general population (5-7%). It is uncommon for pre-pubertal children with PWS to develop overt diabetes or glucose intolerance. GH therapy and genotype did not influence the development of altered glucose metabolism. It has been assumed that T2DM in PWS develops as a consequence of morbid obesity and concomitant insulin resistance. However recent studies suggest the relationship between morbid obesity and T2DM development is more complex and appears to differ in PWS subjects compared to non-PWS subjects. PWS patients had relatively lower fasting insulin levels and increased adiponectin levels compared with BMI-matched obese control despite of similar levels of leptin. So PWS children may be protected to some extent form of obesity-associated insulin resistance. Although there's no data, it seems logical to approach diabetes management including weight loss and increased exercise, using similar pharmacological agents as with non-PWS obesity-related diabetes such as metformin or thiazolidinedione, with the introduction of insulin as required. On the other hand, several recent T2DM in PWS case reports suggest favorable outcomes using Glucagon-like peptide 1 (GLP-1) analog with regard to ghrelin reduction, control of glucose and appetite, weight loss and pre-prandial insulin secretion. The role of GLP-1 agonist therapy is promising, but has not yet been fully elucidated.

• Child Health Nursing Research
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• 제29권1호
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• pp.7-23
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• 2023

Purpose: The purpose of this study was to investigate the effect of family-centered interventions on improving health outcomes in children and adolescents with type 1 diabetes mellitus (T1DM). Methods: A literature search was conducted according to the PRISMA guidelines, using six electronic databases: EMBASE, CINAHL, Medline, CENTRAL, Scopus, and Web of Science. The inclusion criteria encompassed studies with populations of children and adolescents (age <18 years) and at least one parent/caregiver, or only parents/caregivers if the children were very young, and studies that investigated the health outcomes of children and parents/caregivers diagnosed with T1DM. Results: From 2,746 published studies, only nine studies met the inclusion criteria. The key interventions were non-technology-based interventions (n=4), technology-based interventions (n=2), and combined technology- and non-technology-based interventions (n=3). The interventions had effects on glycated hemoglobin, adherence to diabetes management, diabetes self-management behaviors, and parent-child teamwork in diabetes management. Other essential effects were children's quality of life, children's problem-solving skills, parents' quality of life, and parents' coping and depression. Conclusion: Family-centered interventions can effectively improve health outcomes in children and adolescents with T1DM. In the future, family-centered interventions integrated with other approaches, theories, and models should be developed to achieve the best possible outcomes.

• Childhood Kidney Diseases
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• 제12권2호
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• pp.250-255
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• 2008

당뇨병은 인슐린 분비 또는 인슐린 작용의 장애로 발생하는 대사질환이다. 그 중 제1형 당뇨병은 흔히 혈당 조절이 어려우며 눈과 신장을 침범하는 미세혈관합병증이 발생할 수 있다. 당뇨병성 신병증은 소아에서 흔하지 않지만 신부전까지 일으킬 수 있는 심각한 질환이다. 그런데, 많은 연구들에서 당뇨병이 사춘기 전에 발생하는 경우보다 사춘기나 그 이후에 발생하는 경우에 미세혈관 합병증의 발생이 증가한다는 사실이 알려졌다. 사춘기 전에 발생한 소아 당뇨병성 신병증은 국내에서 보고된 예가 거의 없는 상태로, 저자들은 여러 차례의 당뇨병성 케톤산혈증의 과거력이 있으며 혈당 조절이 불량했던 제 1형 당뇨병 소아 환자에서 혈뇨와 단백뇨가 관찰되어 조직 검사를 통해 사춘기 전에 발생한 당뇨병성 신병증을 확진한 1례를 경험하였기에 문헌고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제61권10호
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• pp.307-314
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• 2018

The incidence of type 1 diabetes mellitus (T1DM) in children and adolescents is increasing worldwide. Combined effects of genetic and environmental factors cause T1DM, which make it difficult to predict whether an individual will inherit the disease. Due to the level of self-care necessary in T1DM maintenance, it is crucial for pediatric settings to support achieving optimal glucose control, especially when adolescents are beginning to take more responsibility for their own health. Innovative insulin delivery systems, such as continuous subcutaneous insulin infusion (CSII), and noninvasive glucose monitoring systems, such as continuous glucose monitoring (CGM), allow patients with T1DM to achieve a normal and flexible lifestyle. However, there are still challenges in achieving optimal glucose control despite advanced technology in T1DM administration. In this article, disease prediction and current management of T1DM are reviewed with special emphasis on biomarkers of pancreatic ${\beta}-cell$ stress, CSII, glucose monitoring, and several other adjunctive therapies.

• Clinical and Experimental Pediatrics
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• 제51권6호
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• pp.569-575
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• 2008

Type 1 diabetes mellitus (T1 DM) develops in genetically susceptible individuals as a result of progressive autoimmune destruction of beta cells. There is larger global variation in incidence among children aged 0-14 years. The incidence of T1 DM in Korea is very low. The latest survey in Korea was conducted in 2001 by Korean Society of Pediatrics to analyse the childhood (0-14 years) national-wide incidence during 1 995-2000. The average childhood incidence (/100,000 and year) was 1.36 (95% CI: 1.23-1.48), higher than 1.06 of Korea in 1 994. This survey reported that higher mean annual incidence was observed in female (girls, 1.67 vs boy 1.07), older age group (10-14 years, 1.98; 5-9 years, 1.43; 0-4 years, 0.73), Kangwondo (2.09) and Seoul (1.99), and more new patients developed in spring (spring, 27.1%; winter, 26.6%; summer, 24.8%; autumn, 21.5%). The increase of childhood T1 DM incidence has occurred in every region (4.0% in Asia, 3.2% in Europe during 1990-1999). Also, steady increase in incidence was observed during 1985-2000 in Korea. This trends may be maintained or accelerated by environmental factors, known as triggers, modifiers and promoters of the T1 DM occurrence. The rising incidence of T1 DM suggests the need for continuous monitoring of incidence by using standardized methods in order to plan or assess prevention strategies.