Diabetic children should be encouraged to engage in physical activity with more intensity, which can benefit their autonomic nervous function. Nevertheless, the potential risk of vigorous activity still needs our concern.
Kawasaki disease (KD) is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS) in 250 KD patients and 446 controls in a Han Chinese population residing in Taiwan, and further validated our findings in an independent Han Chinese cohort of 208 cases and 366 controls. The most strongly associated single-nucleotide polymorphisms (SNPs) detected in the joint analysis corresponded to three novel loci. Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit) gene: rs1873668 (p = 9.52×10−5), rs4243399 (p = 9.93×10−5), and rs16849083 (p = 9.93×10−5). We also identified a SNP in the intronic region of the ERAP1 (endoplasmic reticulum amino peptidase 1) gene (rs149481, pbest = 4.61×10−5). Six SNPs (rs17113284, rs8005468, rs10129255, rs2007467, rs10150241, and rs12590667) clustered in an area containing immunoglobulin heavy chain variable regions genes, with pbest-values between 2.08×10−5 and 8.93×10−6, were also identified. This is the first KD GWAS performed in a Han Chinese population. The novel KD candidates we identified have been implicated in T cell receptor signaling, regulation of proinflammatory cytokines, as well as antibody-mediated immune responses. These findings may lead to a better understanding of the underlying molecular pathogenesis of KD.
Background: cognitive impairment has been documented in adult diabetes but is unclear in pediatric diabetes. No study had been conducted to explore the relationship between attention-deficit/hyperactivity disorder (aDhD) and diabetes. Using a population-based data set, we aimed to examine the association between aDhD and a prior diagnosis of diabetes mellitus (DM) in Taiwan. Methods: a total of 4,302 patients with aDhD were selected as cases and 21,510 randomly selected subjects as controls. We used conditional logistic regression to calculate the odds ratio (OR) for having previously received a diagnosis of DM between subjects with and without aDhD. results: In this study, 116 of the 25,812 sampled subjects (0.5%) had received a diagnosis of DM prior to their index date. subjects with aDhD had a higher proportion of prior DM diagnoses than controls (0.9% vs. 0.4%, P < 0.001). after adjusting for age, sex, index year, geographic location, and obesity, aDhD was significantly associated with a prior diagnosis of type 2 DM (OR = 2.75, 95% confidence interval (cI) = 1.82-4.16). however, no significant association was observed between aDhD and type 1 DM. conclusion: The findings suggest that aDhD was associated with a previous diagnosis of type 2 DM.
The purpose of this study was to use a phenomenological approach to explore the essential structure of mothers' life experience when helping their first- to third-grade children with Type 1 diabetes mellitus (T1DM) make life adjustments at school. Twelve mothers whose children had been diagnosed with T1DM participated in this study at a teaching hospital in Taipei, Taiwan. Study results revealed six themes and identified the presence of various dynamic relationships between T1DM symptoms, the children's development, and collaborative self-care.
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. We have analyzed CYP21 gene sequences in 65 CAH families in Taiwan. All ten exons of the CYP21 gene were analyzed by differential polymerase chain reaction followed by single-strand conformation polymorphism electrophoresis and the amplification-created restriction site method. About 95% (123 chromosomes) contain mutations due to conversion of DNA sequences into its neighboring homologous pseudogene, CYP21P. Four novel mutations representing 5% of the total chromosomes have also been identified. The mutations were confirmed by sequencing an aberrant DNA fragment. These four mutations included a base change of the splicing donor site at intron 2 from GT to AT, a base substitution of C to T at codon 316, deletion of ten bases (TCCAGCTCCC) at codons 330-333 of exon 8, and duplication of 16 bases (CCTGGATGACACGGTC) at codons 393-397 of exon 9. The loss of the splicing donor site at intron 2 and the premature stop at codon 316 may result in aberrant splicing to reduce enzyme activity and a truncated protein with no enzyme activity, respectively. Likewise, both the duplication and the deletion forms create a frameshift and premature stop during translation. The resulting proteins lack the heme-binding domain and hence are expected to lose enzymatic activity. Since these mutations are not found in the neighboring CYP21P pseudogene, gene conversion should not be the cause of these novel mutations.
Child obesity is frequently associated with dysfunction of autonomic nervous system. Children in pubertal development were suggested to be vulnerable to autonomic nervous system problems such as decrease of heart rate variability from dysregulation of metabolic control. This study explored the influence of pubertal development on autonomic nervous system function in overweight and obese children and the concurrent effects of their physical activity. Eighty-four overweight or obese children and 87 normal weighted controls were recruited. Autonomic nervous system function was studied by measuring heart rate variability. Results showed that the overweight/obese children had significantly lower heart rate variability. Overweight/obese children in puberty had significantly lower heart rate variability which was positively correlated with their physical activity levels. In conclusion, overweight/obesity adversely affects the autonomic nervous system function of children especially during their pubertal development. Overweight/obese children should be encouraged to engage in physical activities during puberty to improve their autonomic nervous system function.
HbA1c was a more dominant predictor for LnTP, LnHF and LnLF than DD in children with type 1 diabetes at rest. HRV reduced significantly from resting to exercise. However, the responses of HRV during exercise differ from the responses of HRV at rest.
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