A5040906209- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Sexual Differentiation and Disorders
- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Growth Hormone and Insulin-like Growth Factors
- Lysosomal Storage Disorders Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Hormonal and reproductive studies
- Urological Disorders and Treatments
- Tumors and Oncological Cases
- Genetic Associations and Epidemiology
- Immunodeficiency and Autoimmune Disorders
- Glycogen Storage Diseases and Myoclonus
- Tracheal and airway disorders
- Family and Disability Support Research
- Renal and related cancers
- Obstructive Sleep Apnea Research
- Urologic and reproductive health conditions
- Metabolism and Genetic Disorders
- HIV, Drug Use, Sexual Risk
- DNA Repair Mechanisms
- Elbow and Forearm Trauma Treatment
Taipei Tzu Chi Hospital
2015-2024
Tzu Chi University
2011-2024
Taipei City Hospital
2007-2024
Buddhist Tzu Chi Medical Foundation
2022
National Taiwan University
2020
Buddhist Tzu Chi General Hospital
2007-2013
National Cheng Kung University Hospital
2007
Taipei Medical University
2007
Kaohsiung Medical University Chung-Ho Memorial Hospital
2007
National Taipei University of Nursing and Health Science
2007
Abstract Previous studies on the incidence of various types mucopolysaccharidoses (MPS) in different populations have shown considerable variation. However, information regarding MPS Asian population is lacking. An epidemiological study disorders Taiwan using multiple ascertainment sources was undertaken, and incidences during period 1984–2004 were estimated. We compared our data with previous reports populations. The combined birth for all cases 2.04 per 100,000 live births. II (Hunter...
Abstract To evaluate the occurrence of sleep‐disordered breathing and to clarify characteristics sleep among patients with Prader–Willi syndrome (PWS). Overnight continuous EEG‐polysomnographic studies were performed in 30 PWS (16 males 14 females; mean age, 7.4 ± 4.1 years; age range, 1–19 years) unselected for disturbance. The baseline arterial oxygen saturation (SpO 2 ) was 96.6 0.6%, a nadir 77.2 10.2%. rapid eye movement (REM) latency 67.4 30.0 min. percent total time spent stages 1, 2,...
If carrier women could be identified in time and take appropriate measures, fragile X syndrome (FXS) can prevented. Wide screening of to or their early pregnancy was considered a good approach identify carriers without misdetection. Nevertheless, we argued against the cost-effectiveness implementing such program Taiwan, due lower rate found our pilot study. To reliably estimate prevalence mutant FMR1 gene anonymously screened 10,046 newborn boys using bloodspot polymerase chain reaction...
Abstract Aim: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader–Willi syndrome (PWS). Methods: We performed a retrospective analysis 67 cases molecularly confirmed PWS diagnosed from January 1980 through July 2006 five medical centres Taiwan. Clinical manifestations were compared between patients with deletion and those maternal uniparental disomy (UPD). Results: Deletion was present 56 (84%), UPD 10 (15%), probable imprinting...
Abstract Prader–Willi syndrome (PWS) is a neurodevelopmental disorder characterized by multiple endocrine, metabolic, respiratory, cognitive, and behavioral/psychiatric symptoms that may lead to severe emotional strain in their caregivers. In this study, we evaluated parenting stress the Parenting Stress Index‐short form (PSI/SF) parent‐reported behavioral Child Behavior Checklist (CBCL/6–18) families of children with PWS. Sixty‐seven home‐resident PWS patients were recruited study. The...
Abstract Context Human height is an inheritable, polygenic trait under complex and multilocus genetic regulation. Familial short stature (FSS; also called stature) the most common type of insufficiently known. Objective To investigate FSS profile develop a risk predisposition score for prediction. Design Setting The participant group Han Chinese ancestry was diagnosed by pediatric endocrinologists in Taiwan. Patients Interventions profiles 1163 participants with were identified using...
Obstructive sleep apnea syndrome (OSAS) is one of the most common comorbidities in patients with Prader-Willi (PWS) and causes significant consequences. This observational study was conducted to investigate progression OSAS pediatric PWS, who had not undergone upper airway surgery, through a longitudinal follow-up their annual polysomnography results. Annual body mass index (BMI), BMI z-score, efficiency stages, central (CAI), obstructive apnea-hypopnea (OAHI), oxygen saturation nadir values...
Mitochondrial DNA (mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA vary but include mitochondrial myopathy, Pearson syndrome, Kearns-Sayre and progressive external ophthalmoplegia. Here, we report the case 10-year-old boy who presented with deterioration his status (which included hypoglycemia, short stature, sensorineural hearing loss, retinitis pigmentosa, chronic gastrointestinal dysmotility) progressed...
Diagnosing idiopathic short stature (ISS) in Traditional Chinese Medicine (TCM) remains challenging partly because the symptoms and syndrome patterns vary among ISS patients studies. We aimed to use factor analysis of TCM identify associated with children on basis theory.
Journal Article Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type la Get access Wuh-Liang Hwu, Hwu 1Departments of Medical Genetics2Pediatrics, National Taiwan University Hospital, Taipei 100, Taiwan, ROC Search for other works by this author on: Oxford Academic PubMed Google Scholar Shu-Chuan Chuang, Chuang Genetics Li-Ping Tsai, Tsai 2Pediatrics, Mei-Hwei Chang, Chang Sou-Ming Tso-Ren Wang * *To whom correspondence should be...
Abstract Background: Prader–Willi syndrome (PWS) is a congenital disorder caused by absent expression of paternal genes in 15q11‐13 affecting multiple systems. The information concerning the clinical features this genetic incomplete Taiwan. Methods: A retrospective analysis was carried out 70 PWS patients (39 male, 31 females; age range, 1 month–22 years) seen four major medical centers Taiwan from January 1980 through June 2005. All cases were confirmed methylation‐specific polymerase chain...
Background: Information regarding the efficacy of growth hormone (GH) therapy in Asian Prader-Willi syndrome (PWS) patients is lacking. We report our experience with GH treatment children PWS Taiwan. Methods: Forty-six (27 males, 19 females; age range, 1 year 4 months to 13 years 7 months) who received and/or are currently receiving (0.1 IU/kg/day subcutaneously) for a period from 3 were retro-spectively analyzed. evaluated height, weight, body mass index (BMI) and Rohrer index, before after...
Abstract Background Prader–Willi syndrome (PWS) is a neurodevelopmental disorder characterized by multiple respiratory, cognitive, endocrine, and behavioral symptoms, such as central apnea, intellectual disabilities, exaggerated stress responses, temper tantrums. The locus coeruleus noradrenergic system (LC-NE) modulates diverse range of behaviors, including arousal, learning, pain modulation, stress-induced negative affective states, which are possibly correlated with the pathogenesis PWS...
Here, we review the results of Southern blotting analyses FMR1 gene performed in our reference laboratory Taiwan over a 15-year period. In total, 725 high-risk women with family history fragile X syndrome (FXS) or idiopathic intellectual disability, 3911 low-risk pregnant without such history, and prenatal diagnosis data for 32 foetuses from 24 carrier mothers were included. Only 2 carriers group, which indicated prevalence 1 1955 (95% confidence interval: 1/7156-1/539). A total 100 found to...
Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay.Phenotypic evaluation was first applied to examine the proband's status. Computed tomography colour transcranial Doppler were used then investigate her brain structure function. Subsequently, chromosomal abnormalities examined by karyotyping fluorescent in situ hybridization performed size fragments lost at two distal ends ring chromosome 7. In addition, multicolour...
Background Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by variety of physical, cognitive, and behavioral impairments. PWS unique sarcopenia model an abnormal increase in body fat mass decrease muscle that predisposes patients to reduced physical activity, functional limitations, disability. These manifestations may require both symptomatic supportive management, thus negatively influencing their lifelong family caregiver’s quality life. The aim this...
The 5α-reductase type 2 deficiency is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated (SRD5A2) gene. In this disease, defective conversion testosterone to dihydrotestosterone leads variable presentations male ambiguous genitalia during fetal development. most crucial clinical decision for affected individual proper gender assignment; therefore, prompt and correct diagnosis important. present study, we report normal karyotype manifesting microphallus, bifid...
This study demonstrates that methyl‐CpG‐binding PCR (MB‐PCR) is a rapid and simple method for detecting fragile X syndrome (FXS) in males, which performed by verifying the methylation status of FMR1 promoter bloodspots. Proteins containing (MB) domains can be freeze‐stored used as stocks, entire test requires only few hours. The minimum amount DNA required 0.5 ng. At this amount, detection sensitivity not hampered, even mixing with excess unmethylated alleles up to 320 folds. We examined...