Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism.

Objective: Congenital hyperinsulinism (CHI) is a group of clinically and genetically heterogeneous disorders characterized by dysregulated insulin secretion. The aim of the study was to elucidate genetic etiologies of Taiwanese children with the most severe diazoxide-unresponsive CHI and analyze their genotype-phenotype correlations.

Methods: We combined Sanger with whole exome sequencing (WES) to analyze CHI-related genes.

Endocrine and Growth Disorders in Taiwanese Children With 22q11.2 Deletion Syndrome.

Background: Endocrine disorders are common in patients with 22q11.2 deletion syndrome (22q11.2DS).

Increased Incidence of Pediatric Type 1 Diabetes With Novel Association With Coxsackievirus A Species in Young Children but Declined Incidence in Adolescents in Taiwan.

Objective: Type 1 diabetes (T1D) has been linked to enterovirus infection in small population-based epidemiological studies. We investigated the secular relationship of T1D incidence with enterovirus infection and enterovirus species using nationwide population-based analysis.

Research Design And Methods: We accessed the National Health Insurance Research Database of Taiwan to identify T1D and enterovirus infection cases from 2001 to 2015.

Resistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy.

Resistance to thyroid hormone (RTH) is a rare congenital disorder characterized by impaired sensitivity of target tissues to thyroid hormone. The disease is mostly caused by heterozygous mutations of thyroid hormone receptor β (THRB) gene. We present a ten-year-old Taiwanese boy with goiter, mood disturbances and attention deficit hyperactivity disorder (ADHD).

Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center.

Background/purpose: Thyroid disorders are common in children with Down syndrome (DS), however, such data have rarely been reported in Taiwanese children. This study presents our experience with the management of these children.

Methods: Between 2006 and 2016, 51 children (31 boys and 20 girls) with DS were enrolled.

Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum.

Pancreatoblastoma is a rare type of pancreatic cancer in children. Here, we describe a case in which Beckwith-Wiedemann syndrome (BWS) was first suspected because of placental mesenchymal dysplasia. Although the baby did not show the stigmata characteristic of BWS or abnormal peripheral blood methylation, she developed a massive pancreatoblastoma 2 months later.

The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center.

Background/purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children.

Patients And Methods: We enrolled 19 patients from January 1981 to September 2016.

Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan.

Background: Type 1 diabetes (T1D) mellitus is an autoimmune disorder involving both complex genetic and environmental factors. The incidence rates are low in Asian countries, and the specific, explanatory genetic factors underlying this have been investigated. The aim of this study was to elucidate the association of human leukocyte antigen (HLA) alleles/haplotypes with T1D in Taiwan.

SHOX deficiency in short Taiwanese children: A single-center experience.

Background: SHOX deficiency is a common cause of idiopathic short stature. The aim of this study was to describe the clinical characteristics and molecular findings of patients with SHOX deficiency in Taiwan.

Methods: A phenotype scoring system was used to evaluate several anthropometric measures in patients with idiopathic short stature.

Nutritional rickets in Taiwanese children: Experiences at a single center.

Background/purpose: The number of children with nutritional rickets in Taiwan has increased over the last decade. The aim of this study was to present our experiences in the management of patients with this condition.

Patients And Methods: From 2011 to 2016, 10 children (3 boys and 7 girls) with nutritional rickets were enrolled in this study.

Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening.

Background/purpose: Neonatal screening for congenital adrenal hyperplasia (CAH) has been conducted in Taiwan since 2000. This study aimed to determine the clinical characteristics of Taiwanese children with CAH due to 21-hydroxylase deficiency (21-OHD) detected by neonatal screening.

Methods: From 2000 to 2015, 26 neonates (14 boys and 12 girls) with classic 21-OHD detected by neonatal screening and confirmed at National Taiwan University Hospital were enrolled.

Clinical characteristics of type 1 diabetes mellitus in Taiwanese children aged younger than 6 years: A single-center experience.

Background/purpose: Cases of type 1 diabetes mellitus in children aged younger than 6 years in Taiwan has increased in the past 10 years. This retrospective study aimed to review the management experience of such patients in a single center.

Methods: From January 2004 to June 2015, 52 newly diagnosed diabetic children younger than 6 years who had regular follow-up for > 1 year were enrolled, as well as 94 older diabetic children for comparison.

Clinical characteristics and long-term outcome of Taiwanese children with congenital hyperinsulinism.

Background/purpose: Congenital hyperinsulinism (CHI) is a rare condition causing severe hypoglycemia in neonates and infants due to dysregulation of insulin secretion. This study aimed to review 20 years' experience in the management of Taiwanese children with CHI.

Methods: Between 1990 and 2010, children diagnosed with CHI and followed up at the Pediatric Endocrine Clinic of the National Taiwan University Hospital were enrolled.

Galactosylated liposome as a dendritic cell-targeted mucosal vaccine for inducing protective anti-tumor immunity.

Mucosal surfaces contain specialized dendritic cells (DCs) that are able to recognize foreign pathogens and mount protective immunity. We previously demonstrated that intranasal administration of targeted galactosylated liposomes can elicit mucosal and systemic antibody responses. In the present study, we assessed whether galactosylated liposomes could act as an effective DC-targeted mucosal vaccine that would be capable of inducing systemic anti-tumor immunity as well as antibody responses.

Effect of menarche onset on the clinical course in females with chronic hepatitis B virus infection.

Objective: To investigate the impact of menarche on the natural course of chronic hepatitis B virus (HBV) infection in women.

Study Design: Young women who are positive for hepatitis B e antigen (HBeAg; n = 101) chronically infected with genotypes B and C HBV were recruited at a mean age of 4.57 ± 3.

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese.

An inactivating mutation in the GNAS gene causes either pseudohypoparathyroidism 1a (PHP1A) when it is maternally inherited or pseudopseudohypoparathyroidism (PPHP) when it is paternally inherited. We investigated clinical manifestations and mutations of the GNAS gene in ethnic Chinese patients with PHP1A or PPHP. Seven patients from 5 families including 4 girls and 2 boys with PHP1A and 1 girl with PPHP were studied.

Endocrine dysfunction in Taiwanese children with human chorionic gonadotropin-secreting germ cell tumors.

Background/purpose: Human chorionic gonadotropin (HCG)-secreting germ cell tumors (GCTs) are rare childhood malignancies with unique clinical manifestations but delayed diagnosis is common. The purpose of this study is to investigate the clinical manifestations and endocrine dysfunction of Taiwanese children with HCG-secreting GCTs.

Methods: From 1991 to 2011, 24 children (19 boys and five girls) with HCG-secreting GCTs were evaluated for their clinical findings and endocrine functions.

Clinical characteristics of central diabetes insipidus in Taiwanese children.

Background/purpose: Data on the clinical features of children with central diabetes insipidus (CDI) are lacking in Taiwan. This study investigated the clinical manifestations and etiology of CDI in Taiwanese children.

Methods: From 1983 to 2012, 62 children with permanent diabetes insipidus were enrolled in the study.

Role of serum dehydroepiandrosterone sulfate level on the clearance of chronic hepatitis B virus infection.

Background: The natural course of chronic hepatitis B virus (HBV) infection and relevant host factors remain unclear. This study aims to investigate the impact of dehydroepiandrosterone sulfate (DHEAS) on the clearance of chronic HBV infection.

Methods: Two hundred and one hepatitis B e antigen (HBeAg)-positive chronic HBV-infected children (101 females) were recruited.

Microbial methane cycling in a terrestrial mud volcano in eastern Taiwan.

Microbial communities responsible for methane cycling in mud volcanoes onshore are poorly characterized. This study analysed bubbling fluids and cored sediments retrieved from a mud volcano in eastern Taiwan. The pore water profiles revealed that methane concentrations generally increased with depth and changed dramatically at different depth intervals at different sites.