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Autoimmune thyroid disease (AITD), including Graves disease (GD) and Hashimoto disease (HD), is an organ-specific autoimmune disease with a strong genetic component. Although the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) polymorphism has been reported to be associated with AITD in adults, few studies have focused on children. The aim of our study was to investigate whether the CTLA4 polymorphisms, including -318C/T (rs5742909), +49A/G (rs231775), and CT60 (rs3087243), were associated with GD and HD in Han Chinese adults and children. We studied 289 adult GD, 265 pediatric GD, 229 pediatric HD patients, and 1058 healthy controls and then compared genotype, allele, carrier, and haplotype frequencies between patients and controls. We found that CTLA4 SNPs +49A/G and CT60 were associated with GD in adults and children. Allele G of +49A/G was significantly associated with GD in adults (odds ratio [OR], 1.50; 95% confidence interval [CI], 1.21-1.84; corrected P value [Pc] < 0.001) and children (OR, 1.42; 95% CI, 1.15-1.77; Pc = 0.002). Allele G of CT60 also significantly increased risk of GD in adults (OR, 1.63; 95% CI, 1.27-2.09; Pc < 0.001) and GD in children (OR, 1.58; 95% CI, 1.22-2.04; Pc < 0.001). Significant linkage disequilibrium was found between +49A/G and CT60 in GD and control subjects (D' = 0.92). Our results showed that CTLA4 was associated with both GD and HD and played an equivalent role in both adult and pediatric GD in Han Chinese population.

Graves’ disease (GD) is a systemic autoimmune disease characterized by hyperthyroidism. Evidence suggests that alterations to the gut microbiota may be involved in the development of autoimmune disorders. The aim of this study was to characterize the composition of gut microbiota in GD patients. Fecal samples were collected from 55 GD patients and 48 healthy controls. Using 16S rRNA gene amplification and sequencing, the overall bacterial richness and diversity were found to be similar between GD patients and healthy controls. However, principal coordinate analysis and partial least squares-discriminant analysis showed that the overall gut microbiota composition was significantly different (ANOSIM; p < 0.001). The linear discriminant analysis effect size revealed that Firmicutes phylum decreased in GD patients, with a corresponding increase in Bacteroidetes phylum compared to healthy controls. In addition, the families Prevotellaceae , and Veillonellaceae and the genus Prevotella_9 were closely associated with GD patients, while the families Lachnospiraceae and Ruminococcaceae and the genera Faecalibacterium , Lachnospira , and Lachnospiraceae NK4A136 were associated with healthy controls. Metagenomic profiles analysis yielded 22 statistically significant bacterial taxa: 18 taxa were increased and 4 taxa were decreased. Key bacterial taxa with different abundances between the two groups were strongly correlated with GD-associated clinical parameters using Spearman’s correlation analysis. Importantly, the discriminant model based on predominant microbiota could effectively distinguish GD patients from healthy controls (AUC = 0.825). Thus, the gut microbiota composition between GD patients and healthy controls is significantly difference, indicating that gut microbiota may play a role in the pathogenesis of GD. Further studies are needed to fully elucidate the role of gut microbiota in the development of GD.

Background Syndromic ciliopathies are a group of congenital disorders characterized by broad clinical and genetic overlap, including obesity, visual problems, skeletal anomalies, mental retardation, and renal diseases. The hallmark of the pathophysiology among these disorders is defective ciliary functions or formation. Many different genes have been implicated in the pathogenesis of these diseases, but some patients still remain unclear about their genotypes. Methods The aim of this study was to identify the genetic causes in patients with syndromic ciliopathy. Patients suspected of or meeting clinical diagnostic criteria for any type of syndromic ciliopathy were recruited at a single diagnostic medical center in Southern Taiwan. Whole exome sequencing (WES) was employed to identify their genotypes and elucidate the mutation spectrum in Taiwanese patients with syndromic ciliopathy. Clinical information was collected at the time of patient enrollment. Results A total of 14 cases were molecularly diagnosed with syndromic ciliopathy. Among these cases, 10 had Bardet-Biedl syndrome (BBS), comprising eight BBS2 patients and two BBS7 patients. Additionally, two cases were diagnosed with Alström syndrome, one with Oral-facial-digital syndrome type 14, and another with Joubert syndrome type 10. A total of 4 novel variants were identified. A recurrent splice site mutation, BBS2 : c.534 + 1G > T, was present in all eight BBS2 patients, suggesting a founder effect. One BBS2 patient with homozygous c.534 + 1G > T mutations carried a third ciliopathic allele, TTC21B : c.264_267dupTAGA, a nonsense mutation resulting in a premature stop codon and protein truncation. Conclusions Whole exome sequencing (WES) assists in identifying molecular pathogenic variants in ciliopathic patients, as well as the genetic hotspot mutations in specific populations. It should be considered as the first-line genetic testing for heterogeneous disorders characterized by the involvement of multiple genes and diverse clinical manifestations.

Despite the importance of hypercholesterolemia in children, it is overlooked, and there are currently few metabolomics-based approaches available to understand its molecular mechanisms. Children from a birth cohort had their cholesterol levels measured with the aim of identifying the metabolites for the molecular biological pathways of childhood hypercholesterolemia. One hundred and twenty-five children were enrolled and stratified into three groups according to cholesterol levels (acceptable, <170 mg/dL, n = 42; borderline, 170–200 mg/dL, n = 52; and high, >200 mg/dL, n = 31). Plasma metabolomic profiles were obtained by using 1H-nuclear magnetic resonance (NMR) spectroscopy, and partial least squares-discriminant analysis (PLS-DA) was applied using the MetaboAnalyst 5.0 platform. Metabolites significantly associated with different cholesterol statuses were identified, and random forest classifier models were used to rank the importance of these metabolites. Their associations with serum lipid profile and functional metabolic pathways related to hypercholesterolemia were also assessed. Cholesterol level was significantly positively correlated with LDL-C and Apo-B level, as well as HDL-C and Apo-A1 level separately, whereas HDL-C was negatively correlated with triglyceride level (p < 0.01). Eight metabolites including tyrosine, glutamic acid, ornithine, lysine, alanine, creatinine, oxoglutaric acid, and creatine were significantly associated with the different statuses of cholesterol level. Among them, glutamic acid and tyrosine had the highest importance for different cholesterol statuses using random forest regression models. Carbohydrate and amino acid metabolisms were significantly associated with different cholesterol statuses, with glutamic acid being involved in all amino acid metabolic pathways (FDR-adjusted p < 0.01). Hypercholesterolemia is a significant health concern among children, with up to 25% having high cholesterol levels. Glutamic acid and tyrosine are crucial amino acids in lipid metabolism, with glutamic-acid-related amino acid metabolism playing a significant role in regulating cholesterol levels.

Many adolescents with type 1 diabetes experience challenges in achieving good glycemic control and have insufficient understanding in executing interventions for glycemic control. This study aimed to understand self-management experiences of adolescents with type 1 diabetes in Taiwan. In this descriptive phenomenological study, we conducted in-depth interviews with 18 adolescents with type 1 diabetes from the pediatric outpatient clinic of a medical center. Data were analyzed using the Colaizzi’s method. Four themes were identified: (1) misconception regarding self-management of blood glucose; (2) conflict between depending on and breaking away from parental assistance for glycemic control; (3) encounter with disruptions in glycemic control regimen due to the presence of schedule changes; and (4) lack of motivation to achieve good glycemic control. The findings indicated that the misconceptions of adolescents with type 1 diabetes about managing glycemic levels resulted from an insufficient understanding of self-management of diabetes. In Taiwan, the heavy emphasis of academic achievement and changes of schedules during breaks tended to disrupt the regimen for glycemic control. Healthcare professionals are encouraged to provide individualized education focusing on the adolescents’ misconceptions regarding self-management of diabetes.

Background/Objectives: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by sustained inflammation, leading to diabetic kidney disease (DKD). This study investigated urinary tubular injury biomarkers and metabolomic profiles in relation to albuminuria and renal function across varying durations of T1D. Methods: A cross-sectional analysis was conducted in 247 youth-onset T1D patients categorized by disease duration: short ≤ 5 years (T1D-S, n = 62), medium 6–10 years (T1D-M, n = 67), and long > 10 years (T1D-L, n = 118). Urinary cytokines (MCP-1, KIM-1, NGAL) were measured by ELISA. Metabolomic profiling was performed using 1H-NMR spectroscopy. Results: Urinary MCP-1/Cr, KIM-1/Cr, and NGAL/Cr levels were significantly elevated in T1D patients compared with non-diabetic controls, but did not correlate with disease duration. Metabolomic profiling identified distinct urinary signatures across T1D duration. Specifically, N-acetylcysteine (NAC) and N-delta-acetylornithine (NAO) increased progressively, while N-acetylaspartate (NAA) and pyruvic acid decreased with longer disease duration. These four metabolites remained statistically significant after both based on Mann–Whitney tests with false discovery rate (FDR) correction (q < 0.05) and application of a conservative alpha threshold (p < 0.01), suggesting potential disruptions in amino acid and carbohydrate metabolism. Conclusions: Urinary biomarkers (MCP-1/Cr, NGAL/Cr, and KIM-1/Cr) are sensitive indicators of subclinical kidney dysfunction in T1D patients, often preceding albuminuria. Alterations in amino acid-related metabolites (NAC, NAA, and NAO) and pyruvate highlight possible metabolic disturbances associated with T1D duration and oxidative stress. However, given the cross-sectional design, longitudinal studies are needed to confirm causality and clarify their predictive value in DKD progression.

Aim To develop and test a mobile application that supports the disease self‐management of adolescents with type 1 diabetes during their transition to early adulthood. Design A sequential mixed‐methods design was employed. Methods The application content was designed according to previously identified care needs and expectations, followed by application development on the Android operating system. From the outpatient clinic of the Department of Paediatric Endocrinology and Metabolism at a medical centre in northern Taiwan, 35 individuals aged between 16–25 years participated in application testing. Results The overall median score of the QUIS was 4–5, most of the 25% quartile was 4–5, and all of the 75% quartile was 5, indicating adequate user interaction satisfaction.

McCune-Albright syndrome (MAS) is characterized by the triad of precocious puberty, café au lait pigmentation, and polyostotic fibrous dysplasia (FD) of bone, and is caused by post-zygotic somatic mutations—R201H or R201C—in the guanine nucleotide binding protein, alpha stimulating (GNAS) gene. In the present study, a novel peptide nucleic acid (PNA) probe with fluorescent labeling was designed to detect trace amounts of somatic mutant GNAS in a single tube reaction. The method was applied to screen GNAS mutations in six patients with MAS/FD. The results showed that the PNA probe assay could detect low abundant mutants in 200-fold excess of wild-type alleles. The GNAS mutation was found in three patients with severe disease (MAS) by using the assay. The other three patients with mild disease (having only FD) showed a wild-type result. This study has provided a simple method to detect trace amounts of GNAS mutants with high sensitivity in large amounts of wild-type DNA.

Aim: The aim was to design a study protocol for evaluating the efficacy of an interactive podcast program to assist Type 1 diabetes patients transitioning from adolescence to young adulthood. Design: The study design is a parallel 1:1 two‐arm randomized controlled trial emphasizing treatment fidelity through standardized interventions and improved adherence to reduce biases in outcomes. Methods: This theoretical‐based study will be conducted at two medical centers in northern Taiwan, enrolling 88 participants. Participants will be randomly assigned to either the experimental group, receiving the interactive podcast program “Living With Type 1 Diabetes to Grown‐Up,” or the active control group, receiving the e‐book “Transitioning from Adolescence to Early Adulthood: The Ins and Outs of Type 1 Diabetes.” The 3‐month intervention will release 36 podcast episodes at a rate of three per week. Data will be collected at baseline, postintervention, and at 3 and 6 months postintervention to evaluate the efficacy of the intervention on disease control outcomes, emotional distress, diabetes knowledge, self‐care behaviors, self‐management confidence, interpersonal distress, and family conflict. Conclusion: This first evidence‐based, rigorously designed podcast program will offer valuable guidelines for future interventions aimed at helping adolescents with Type 1 diabetes transition to adulthood. Impact: This study’s positive findings could support podcasts as an innovative tool for helping adolescents with Type 1 diabetes transition to young adulthood. Additionally, it may provide valuable insights for future research and health policymakers, potentially transforming diabetes management approaches. Reporting Method: The authors adhered to CONSORT guidelines to ensure transparency and reliability. Patient or Public Contribution: There is no patient or public contribution. This Paper Contributes to the Wider Global Clinical Community: This paper provides an evidence‐based framework for using podcasts to support self‐management and well‐being in adolescents with Type 1 diabetes and offers insights for future digital health strategies. Trial Registration: ClinicalTrials.gov identifier: NCT06464640

Young patients aged 16 to 25 years with type 1 diabetes (T1D) often encounter challenges related to deteriorating disease control and accelerated complications. Mobile apps have shown promise in enhancing self-care among youth with diabetes. However, inconsistent findings suggest that further evidence is necessary to confirm the effectiveness of app-based interventions. This study aims to evaluate the effectiveness of the Healthcare CEO app in patients with T1D transitioning from adolescence to early adulthood. A 2 arms, double-blind, randomized controlled trial will be conducted over a 9-month period, with strategies designed to enhance treatment fidelity. The study expects to enroll 96 patients with T1D, aged 16 to 25 years. Participants will be randomly assigned to either the experimental or control group through central randomization. The intervention will be implemented using the Healthcare CEO app, which consists of 11 interfaces. The research will compare differences in disease control outcomes, confidence in self-management, self-care behaviors, emotional distress, quality of life, and specific diabetes-related knowledge between the 2 groups at baseline and 3, 6, and 9 months after intervention. Additionally, changes within the experimental group will be analyzed before and after the intervention. The study was funded in August 2020. It was originally scheduled from August 2020 to July 2022 but was interrupted by the COVID-19 pandemic after enrolling 38 participants, with preliminary results anticipated for publication by November 2024. Recruitment resumed in August 2023, with findings expected to be finalized by July 2025. The Healthcare CEO app is a comprehensive solution tailored specifically for individuals with T1D transitioning from adolescence to early adulthood. This innovative app has the potential to improve the quality of care for adolescents with T1D during this critical stage and may serve as valuable evidence in support of app-based intervention strategies. ClinicalTrials.gov NCT05022875; https://www.clinicaltrials.gov/study/NCT05022875. DERR1-10.2196/59871.