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Article: Mutation screening of INS and KCNJ11 genes in Taiwanese children with type 1B diabetic onset before the age of 5 years.

Lo, Fu-Sung

Journal of the Formosan Medical Association = Taiwan yi zhi

2018 Volume 117, Issue 8, Page(s) 734–737

Abstract: Type 1 diabetes (T1D) is caused by β-cell destruction, usually leading to absolute insulin deficiency. T1D is a heterogeneous disease and is divided into two subtypes according to the presence or absence of pancreatic autoantibodies: type 1A (immune ... ...

Abstract	Type 1 diabetes (T1D) is caused by β-cell destruction, usually leading to absolute insulin deficiency. T1D is a heterogeneous disease and is divided into two subtypes according to the presence or absence of pancreatic autoantibodies: type 1A (immune mediated) and type 1B (idiopathic). Genes such as KCNJ11 or INS, which play key roles in β-cell function, provide some insight into the pathogenesis of type 1B diabetes. In this study, we screened 110 Taiwanese children (61 males and 49 females) with T1D onset before the age of 5 years for mutations of INS and KCNJ11. We identified one missense heterozygous mutation in KCNJ11 (c.989A>G, p.Y330C) and no INS mutations among 28 probands. This is the first study to screen patients with autoantibody-negative T1D diagnosed before the age of 5 years for INS and KCNJ11 mutations in Taiwan. Although KCNJ11 mutations are always reported in patients with permanent neonatal diabetes, this gene mutation can be detected after 6 months of age. Further studies in other patients with type 1B diabetes and their families are required to elucidate the contributions of the KCNJ11 mutation to the T1D phenotype.
MeSH term(s)	Age of Onset ; Autoantibodies/blood ; Child ; Child, Preschool ; Diabetes Mellitus, Type 1/genetics ; Female ; Humans ; Insulin/genetics ; Male ; Mutation, Missense ; Phenotype ; Potassium Channels, Inwardly Rectifying/genetics ; Taiwan
Chemical Substances	Autoantibodies ; Insulin ; Kir6.2 channel ; Potassium Channels, Inwardly Rectifying
Language	English
Publishing date	2018-02-01
Publishing country	Singapore
Document type	Case Reports ; Journal Article
ZDB-ID	2096659-3
ISSN	1876-0821 ; 0929-6646
ISSN (online)	1876-0821
ISSN	0929-6646
DOI	10.1016/j.jfma.2018.01.002
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Article ; Online: Pubertal Timing, Smoking, and Sexual Activity.

Lo, Fu-Sung

Pediatrics and neonatology

2017 Volume 58, Issue 4, Page(s) 293–294

MeSH term(s)	Sexual Behavior ; Smoking
Language	English
Publishing date	2017
Publishing country	Singapore
Document type	Editorial ; Comment
ZDB-ID	2441816-X
ISSN	2212-1692 ; 1875-9572
ISSN (online)	2212-1692
ISSN	1875-9572
DOI	10.1016/j.pedneo.2017.05.002
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Article ; Online: Influencing factors for treatment escalation from metformin monotherapy in youth-onset type 2 diabetes in Northern Taiwan.

Chou, Yi-Hsuan / Su, Ya-Ting / Lo, Fu-Sung / Chiu, Chiao-Fan / Huang, Yen-Chun

Pediatrics and neonatology

2024

Abstract: With the increasing prevalence of obesity, childhood type 2 diabetes (T2D) is a growing concern in Taiwan. Unlike its adult counterpart, T2D in children exhibits a more aggressive nature and earlier onset of complications. Metformin represents the first ... ...

Abstract	With the increasing prevalence of obesity, childhood type 2 diabetes (T2D) is a growing concern in Taiwan. Unlike its adult counterpart, T2D in children exhibits a more aggressive nature and earlier onset of complications. Metformin represents the first line of drug, but if blood sugar levels do not improve, other drugs are used. This retrospective cohort study endeavors to scrutinize and assess the pattern of treatment modification and associate factors among 79 young people with T2D in Taiwan. The study categorized participants into three distinct groups based on their treatment trajectory and outcomes: (1) those maintaining metformin (n = 34); (2) cases achieving remission (n = 7); and (3) individuals experiencing escalation through oral drugs or insulin (n = 38). The average follow-up period spanned 3.48 years. Findings from univariate analysis using a Cox proportional hazards model and propensity score weighting revealed that HbA1c and weight gain correlated with elevated risk of treatment escalation. Conversely, factors such as hypertension, high weight or body mass index (BMI) SDS, leptin levels, c-peptide concentrations, peak c-peptide values during glucagon stimulation test and LDL-cholesterol levels were associated with reduced risk of escalation. However, in multivariate analyses employing stepwise selection, the sole predictive factor for treatment escalation emerged as weight gain one year post-therapy (HR: 1.06, p < 0.001). This study underscores the interconnectedness between weight management and the trajectory toward either treatment escalation or disease remission. Furthermore, it highlights the cost-effective potential of intervening in younger populations. Ultimately, these insights accentuate the considerable opportunity for enhancing health care management strategies concerning pediatric T2D in Taiwan.
Language	English
Publishing date	2024-01-03
Publishing country	Singapore
Document type	Journal Article
ZDB-ID	2441816-X
ISSN	2212-1692 ; 1875-9572
ISSN (online)	2212-1692
ISSN	1875-9572
DOI	10.1016/j.pedneo.2023.09.011
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Article ; Online: Prevalence, diagnostic utility, and clinical characteristics of ZnT8 antibody in children with type 1 diabetes in Northern Taiwan.

Su, Ya-Ting / Chou, Yi-Hsuan / Chiu, Chiao-Fan / Huang, Yen-Chun / Lo, Fu-Sung

Pediatrics and neonatology

2024

Abstract: Background: The ZnT8 autoantibody is used to independently diagnose type 1 diabetes (T1D) and as a prediction factor in high-risk populations. This is the first report in Taiwan on the prevalence, diagnostic utility, and clinical characteristics of zinc ...

Abstract	Background: The ZnT8 autoantibody is used to independently diagnose type 1 diabetes (T1D) and as a prediction factor in high-risk populations. This is the first report in Taiwan on the prevalence, diagnostic utility, and clinical characteristics of zinc transporter 8 autoantibody (ZnT8A) in children with T1D. Methods: We performed a retrospective analysis of 268 children (130 boys, 138 girls) newly diagnosed with T1D at three hospitals in North Taiwan from February 1994 to August 2021. Results: ZnT8A was detected in 117 patients (43.7 %). The combined diagnostic rate of the four antibodies, including glutamic acid decarboxylase autoantibody (GADA), islet antigen 2 autoantibody (IA2A), insulin autoantibody (IAA), and ZnT8A, can reach 86.19 % while that of the original three antibodies is 84.3 %. IA2A (64.9 %) showed the highest positive rate, followed by GADA (64.2 %), ZnT8A (43.7 %), and IAA (22.0 %). Of the 268 patients, five (1.9 %) were only ZnT8A Conclusions: ZnT8A testing can diagnose up to 12 % more patients with T1D along with three other antibodies. Furthermore, since the ZnT8A titer decreased over time, it should be tested within six months of onset in Taiwanese patients with T1D.
Language	English
Publishing date	2024-01-04
Publishing country	Singapore
Document type	Journal Article
ZDB-ID	2441816-X
ISSN	2212-1692 ; 1875-9572
ISSN (online)	2212-1692
ISSN	1875-9572
DOI	10.1016/j.pedneo.2023.09.010
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Article ; Online: Mutation screening of INS and KCNJ11 genes in Taiwanese children with type 1B diabetic onset before the age of 5 years

Fu-Sung Lo

Journal of the Formosan Medical Association, Vol 117, Iss 8, Pp 734-

2018 Volume 737

Abstract	Type 1 diabetes (T1D) is caused by β-cell destruction, usually leading to absolute insulin deficiency. T1D is a heterogeneous disease and is divided into two subtypes according to the presence or absence of pancreatic autoantibodies: type 1A (immune mediated) and type 1B (idiopathic). Genes such as KCNJ11 or INS, which play key roles in β-cell function, provide some insight into the pathogenesis of type 1B diabetes. In this study, we screened 110 Taiwanese children (61 males and 49 females) with T1D onset before the age of 5 years for mutations of INS and KCNJ11. We identified one missense heterozygous mutation in KCNJ11 (c.989A>G, p.Y330C) and no INS mutations among 28 probands. This is the first study to screen patients with autoantibody-negative T1D diagnosed before the age of 5 years for INS and KCNJ11 mutations in Taiwan. Although KCNJ11 mutations are always reported in patients with permanent neonatal diabetes, this gene mutation can be detected after 6 months of age. Further studies in other patients with type 1B diabetes and their families are required to elucidate the contributions of the KCNJ11 mutation to the T1D phenotype. Keywords: INS, KCNJ11, Type 1B diabetes, Type 1 diabetes
Keywords	Medicine (General) ; R5-920
Subject code	616
Language	English
Publishing date	2018-08-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
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Article ; Online: Metabolomics Analysis Reveals Molecular Signatures of Metabolic Complexity in Children with Hypercholesterolemia.

Gu, Pei-Shin / Su, Kuan-Wen / Yeh, Kuo-Wei / Huang, Jing-Long / Lo, Fu-Sung / Chiu, Chih-Yung

Nutrients

2023 Volume 15, Issue 7

Abstract: 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 ... ...

Abstract	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,
MeSH term(s)	Humans ; Child ; Hypercholesterolemia ; Metabolomics/methods ; Amino Acids ; Glutamic Acid ; Tyrosine
Chemical Substances	Amino Acids ; Glutamic Acid (3KX376GY7L) ; Tyrosine (42HK56048U)
Language	English
Publishing date	2023-03-31
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2518386-2
ISSN	2072-6643 ; 2072-6643
ISSN (online)	2072-6643
ISSN	2072-6643
DOI	10.3390/nu15071726
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Article ; Online: Roles of Emotional Autonomy, Problem-Solving Ability and Parent-Adolescent Relationships on Self-Management of Adolescents with Type 1 Diabetes in Taiwan.

Chen, Chia-Ying / Lo, Fu-Sung / Wang, Ruey-Hsia

Journal of pediatric nursing

2020 Volume 55, Page(s) e263–e269

Abstract: Background: High emotional autonomy has a negative association, whereas good problem-solving ability and parent-adolescent relationships have positive association with self-management in adolescents with type 1 diabetes (T1D). Exploring roles of these ... ...

Abstract	Background: High emotional autonomy has a negative association, whereas good problem-solving ability and parent-adolescent relationships have positive association with self-management in adolescents with type 1 diabetes (T1D). Exploring roles of these variables is crucial to design specific interventions to improve self-management in such afflicted adolescents. Purpose: To explore the roles of emotional autonomy, problem-solving ability and parent-adolescent relationships on self-management in adolescents with T1D. Design and methods: Cross-sectional design was used in this study. A total of 242 adolescents with T1D were recruited from an outpatient clinic of a medical center by convenience sampling in Taiwan. Self-reported questionnaires were used to collect personal characteristics, self-management, emotional autonomy, problem-solving ability, and parent-adolescent relationships. Results: Hierarchical multiple regressions indicated that body mass index, problem-solving ability, father-adolescent relationship, and emotional autonomy were significant factors associated with self-management. The interactions of emotional autonomy with problem-solving ability and with parent-adolescents relationship were not significantly associated with self-management. The overall model explained 47.5% variance of self-management. Conclusions: High emotional autonomy was significantly associated with poor self-management. Problem-solving ability and father-adolescent relationships could not moderate, but were independently and significantly associated with self-management in adolescents with T1D. Practice implication: Healthcare providers should evaluate emotional autonomy earlier and provide more timely help to reduce any negative impact on self-management in adolescents with T1D. Improving problem-solving ability and encouraging fathers to develop optimal father-adolescents relationship might be promising strategies to enhance self-management in adolescents with T1D.
MeSH term(s)	Adolescent ; Cross-Sectional Studies ; Diabetes Mellitus, Type 1/diagnosis ; Diabetes Mellitus, Type 1/therapy ; Humans ; Parents ; Self Care ; Self-Management ; Taiwan
Language	English
Publishing date	2020-06-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	632731-x
ISSN	1532-8449 ; 0882-5963
ISSN (online)	1532-8449
ISSN	0882-5963
DOI	10.1016/j.pedn.2020.05.013
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Article ; Online: Pathways of emotional autonomy, problem-solving ability, self-efficacy, and self-management on the glycemic control of adolescents with type 1 diabetes: A prospective study.

Chen, Chia-Ying / Lo, Fu-Sung / Shu, Shao-Hui / Wang, Ruey-Hsia

Research in nursing & health

2021 Volume 44, Issue 4, Page(s) 643–652

Abstract: This prospective study tested a model to depict associations between a number of individual characteristics and 6-month glycated hemoglobin (HbA1c) levels in adolescents with type 1 diabetes (T1D). Adolescents (N = 232) aged 10-19 years with T1D were ... ...

Abstract	This prospective study tested a model to depict associations between a number of individual characteristics and 6-month glycated hemoglobin (HbA1c) levels in adolescents with type 1 diabetes (T1D). Adolescents (N = 232) aged 10-19 years with T1D were recruited from a medical center in Taiwan. Demographic characteristics, emotional autonomy, problem-solving ability, self-efficacy at baseline, and self-management information three months after baseline were collected using a self-reported questionnaire. HbA1c levels 6 months after study commencement were obtained from medical records. Structural equation modeling was used to test the model. Higher baseline self-efficacy and self-management at 3 months were directly associated with lower 6-month HbA1c levels. Higher baseline problem-solving ability and self-efficacy were directly associated with higher 3-month self-management, and higher baseline problem-solving ability was directly associated with higher baseline self-efficacy. Higher baseline emotional autonomy was directly associated with lower 6-month HbA1c levels but indirectly associated with higher 6-month HbA1c levels through the mediation of lower problem-solving ability, self-efficacy, and 3-month self-management. Findings indicate that improving self-management is essential to improving subsequent glycemic control, which might be achieved by enhancing problem-solving ability and self-efficacy. Strengthening problem-solving ability could diminish the negative impact of emotional autonomy on subsequent glycemic control in adolescents with T1D.
MeSH term(s)	Adolescent ; Diabetes Mellitus, Type 1/psychology ; Female ; Glycated Hemoglobin A/analysis ; Glycemic Control ; Humans ; Male ; Personal Autonomy ; Problem Solving ; Prospective Studies ; Self Efficacy ; Self Report ; Self-Management ; Surveys and Questionnaires ; Taiwan
Chemical Substances	Glycated Hemoglobin A
Language	English
Publishing date	2021-06-14
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	424453-9
ISSN	1098-240X ; 0160-6891
ISSN (online)	1098-240X
ISSN	0160-6891
DOI	10.1002/nur.22162
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Article ; Online: Retinal Thickness Associates with Cognition Dysfunction in Young Adult with Type 1 Diabetes in Taiwan.

Hsu, Jung-Lung / Gu, Pei-Shin / Kang, Eugene Yu-Chuan / Lai, Chi-Chun / Lo, Fu-Sung

Journal of diabetes research

2022 Volume 2022, Page(s) 9082177

Abstract: Background: Several factors could affect the cognitive dysfunction in patients with type 1 diabetes (T1D).: Objectives: To report the characteristic of cognitive dysfunction in T1D and find its association with the retinal thickness.: Subjects: We ...

Abstract	Background: Several factors could affect the cognitive dysfunction in patients with type 1 diabetes (T1D). Objectives: To report the characteristic of cognitive dysfunction in T1D and find its association with the retinal thickness. Subjects: We recruited one hundred and seven patients with T1D in our study. Methods: Detailed clinical and demographic factors and Cambridge Automated Neuropsychological Test Battery (CANTAB) were performed in all participants. The age at onset>5 years old and ≤5 years old groups was defined as old- and young-onset groups. The levels of the average values of 5-year glycated hemoglobin (HbA1c_5) before study were collected. Ophthalmic study and central retinal thickness (CRT) were performed. Results: The median age of T1D was 24.9 years old and 57 participants were women. The median age at onset was 7.4 years old, and mean disease duration was 17.2 years. After adjusting off multiple covariates by the regression analyses, the young-onset group had significantly a longer latency in sustained attention than old-onset group ( Conclusions: Our results suggest that age at onset and glycemic control had significant impacts on different cognitive domains in T1D. The CRT had a significant correlation with sustained attention, which could be a surrogate markers of brain structural changes in T1D.
MeSH term(s)	Adult ; Blood Glucose ; Child ; Child, Preschool ; Cognition ; Cognitive Dysfunction/complications ; Diabetes Mellitus, Type 1/complications ; Female ; Glycated Hemoglobin A/analysis ; Humans ; Male ; Taiwan/epidemiology ; Young Adult
Chemical Substances	Blood Glucose ; Glycated Hemoglobin A
Language	English
Publishing date	2022-09-26
Publishing country	England
Document type	Journal Article
ZDB-ID	2711897-6
ISSN	2314-6753 ; 2314-6753
ISSN (online)	2314-6753
ISSN	2314-6753
DOI	10.1155/2022/9082177
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Article: Graves disease is more prevalent than Hashimoto disease in children and adolescents with type 1 diabetes.

Wang, Lu-Ting / Huang, Chi-Yu / Lin, Chao-Hsu / Cheng, Bi-Wen / Lo, Fu-Sung / Ting, Wei-Hsin / Lee, Yann-Jinn

Frontiers in endocrinology

2023 Volume 13, Page(s) 1083690

Abstract: Introduction: Autoimmune thyroid disease (AITD) is the most common associated autoimmune disorder in type 1 diabetes (T1D). Early detection of AITD is crucial to optimize glycemic control, growth, and intellectual development. In this prospective cohort ...

Abstract	Introduction: Autoimmune thyroid disease (AITD) is the most common associated autoimmune disorder in type 1 diabetes (T1D). Early detection of AITD is crucial to optimize glycemic control, growth, and intellectual development. In this prospective cohort study, we sought to characterize the prevalence, incident ages and risk factors of AITD in children and adolescents with T1D. Materials and methods: Patients with T1D diagnosed at ≤ 18 years at MacKay Children's Hospital, Taipei, from 1990 to 2019 underwent annual screening for AITD. Institutional Review Board-approved data on age, sex, and disease profile are collected. Statistical analysis was performed by using independent sample t test for continuous variables, chi-squared test for categorical variables, and Kaplan-Meier estimates of cumulative incidence of AITD were calculated. A Results: We prospectively followed up 808 patients with T1D, 761 patients were included in the study. Of these patients, 197 (25.9%) of them had thyroid autoimmunity, meaning positivity of thyroid autoantibodies. Females had a higher prevalence of thyroid autoimmunity than males (59.9%, p = 0.012). Altogether, 5.5% patients developed AITD (4.1% had Graves disease; 1.4% had Hashimoto disease), at a mean age of 17.8 ± 8.5 years. The cumulative incidence of AITD at 30 years of disease duration was 0.29 in the total group and was significantly higher in females (0.39, n = 397) than in males (0.15, n = 364, Discussion: In Taiwan, the prevalence of AITD in pediatric population with T1D increases with age, a longer disease duration and female sex. For early detection of autoimmune thyroid disease in Taiwanese children and adolescents with T1D, an annual AITD screening program should be implemented.
MeSH term(s)	Male ; Humans ; Child ; Female ; Adolescent ; Young Adult ; Adult ; Hashimoto Disease/epidemiology ; Hashimoto Disease/complications ; Diabetes Mellitus, Type 1/complications ; Diabetes Mellitus, Type 1/epidemiology ; Prospective Studies ; Autoantibodies ; Graves Disease
Chemical Substances	Autoantibodies
Language	English
Publishing date	2023-01-10
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2022.1083690
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