NANS-CDG: Expanding clinical insights with a novel patient with novel variants.

N-acetyl-d-neuraminic acid synthase-congenital disorder of glycosylation (NANS-CDG) is a rare autosomal recessive defect in the N-acetyl-neuraminic acid biosynthesis pathway. Herein, we report the first Korean NANS-CDG patient. A 10-year-old boy was referred to our clinic because of incidental radiographic findings indicating spondyloepimetaphyseal dysplasia. The patient had microcephaly, cavum septum pellucidum, and ventriculomegaly at birth, and at 10 years, a very short stature. He had a history of idiopathic chronic immune thrombocytopenia, central adrenal insufficiency, and hypothyroidism since infancy. The first unprovoked seizure occurred at the age of 2 years, and he was subsequently admitted to the hospital frequently because of respiratory infections and intractable seizures. Exome sequencing identified unreported biallelic variants of the NANS gene. Clinical and genetic confirmation of NANS-CDG highlights its expanding phenotypic and genotypic diversity.

Healthcare coaching program for youth with type 1 diabetes in South Korea: a pilot study.

PURPOSE: This pilot study aimed to assess the feasibility, preliminary efficacy, and effects of a mobile app healthcare coaching program developed based on self-regulation theory among youths with type 1 diabetes. METHODS: A mixed-method design was utilized. Participants were randomly assigned into intervention (n=23, 12-week coaching program) or control groups (n=16, usual care). Pre- and post-intervention assessments included self-efficacy, diabetes management behavior, and health outcomes (quality of life, depression, and HbA1c). Quantitative data were analyzed with SPSS/WIN ver. 26.0. The narrative information from the participants in the healthcare coaching program underwent content analyzed. RESULTS: The intervention group had significantly lower depression scores (t=2.57, p=.014) than the control group. No significant differences were observed in self-efficacy, diabetes management behavior, and health outcomes between the two groups. The average frequency of health behavior monitoring per week among the participants was 1.86±1.60. The qualitative findings indicated that participants perceived improved diabetes self-management with the intervention; however, challenges during vacations, dietary control difficulties, and a lack of disease awareness were identified. CONCLUSION: The healthcare coaching program improved psychological aspects for youth with type 1 diabetes. Further research is needed to develop and implement mobile app interventions aimed at enhancing compliance with diabetes management in pediatric and adolescent populations.

The impacts of COVID-19 on childhood obesity: prevalence, contributing factors, and implications for management.

PURPOSE: This study aimed to identify changes in the prevalence of obesity and related diseases among children and adolescents during the coronavirus disease 2019 (COVID-19) pandemic. METHODS: This study was conducted using data from the 2016-2021 Korean National Health and Nutrition Examination Survey and included 3,861 children and adolescents aged 10-18 years. The prevalence of obesity and related diseases was adjusted for age, sex, and income. We also analyzed the socioeconomic, nutritional, and physical activity items in the survey. RESULTS: During the COVID-19 pandemic, there was a significant increase in the prevalence of obesity (p=0.02), central obesity (p=0.001), mean body mass index (BMI, p=0.03), and hemoglobin A1c (p=0.005) among children and adolescents aged 10-18 years. The intake of food and calories was significantly reduced in the normal-weight group (p=0.001 and <0.001) but not in the obese group. Incidences of skipping breakfast increased and eating out decreased, regardless of obesity status. However, the changes in health behaviors were not significant. The prevalence of central obesity and increased BMI showed a significant linear association between children and their parents, especially in the 10-12-year-old age group. A clear increase in the proportion of metabolically unhealthy children and adolescents was observed in the obese group, and the frequency of central obesity in parents also increased. CONCLUSION: The number of metabolically unhealthy, obese children and adolescents increased during the COVID-19 pandemic. Age-specific strategies that consider growth, development, and genetic and social factors are required. Health strategies targeting the entire family are required to develop healthier habits.

Healthcare professionals' perspectives towards the digitalisation of paediatric growth hormone therapies: expert panels in Italy and Korea.

Introduction: To analyse the perspectives of healthcare professionals (HCPs) regarding the acceptance of digital health solutions for growth hormone (GH) deficiency care. This study identified factors impacting HCPs' intent to use and recommend digital solutions supporting recombinant-human growth hormone (r-hGH) therapy in Italy and Korea with a use case of connected drug delivery system (Aluetta® with Smartdot™) integrated in a platform for GH treatment support (the Growzen™ digital health ecosystem). Methods: Participatory workshops were conducted in Rome, Italy, and Seoul, Korea, to collect the perspectives of 22 HCPs on various predefined topics. HCPs were divided into two teams, each moderated by a facilitator. The workshops progressed in five phases: introduction of the project and experts, capturing views on the current context of digitalisation, perceived usefulness and ease of use of Aluetta® with Smartdot™, exploration of the perception of health technology evolution, and combined team recommendations. Data shared by HCPs on technology acceptance were independently analysed using thematic analysis, and relevant findings were shared and validated with experts. Results: HCPs from both Italy and Korea perceived Aluetta® with Smartdot™ and the Growzen™ based digital health ecosystem as user-friendly, intuitive, and easy-to-use solutions. These solutions can result in increased adherence, a cost-effective healthcare system, and medication self-management. Although technology adoption and readiness may vary across countries, it was agreed that using digital solutions tailored to the needs of users may help in data-driven clinical decisions and strengthen HCP-patient relationships. Conclusion: HCPs' perspectives on the digitalisation in paediatric GH therapies suggested that digital solutions enable automatic, real-time injection data transmission to support adherence monitoring and evidence-based therapy, strengthen HCP-patient relationships, and empower patients throughout the GH treatment process.