A5100609145- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Glycogen Storage Diseases and Myoclonus
- Carbohydrate Chemistry and Synthesis
- Genetic Syndromes and Imprinting
- Dialysis and Renal Disease Management
- Connective tissue disorders research
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Epigenetics and DNA Methylation
- Metabolism and Genetic Disorders
- Neonatal Health and Biochemistry
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Biomedical Research and Pathophysiology
- Renal function and acid-base balance
- Viral gastroenteritis research and epidemiology
- Cellular transport and secretion
- Genomic variations and chromosomal abnormalities
- Chronic Kidney Disease and Diabetes
- Bone fractures and treatments
- Child Nutrition and Feeding Issues
- Cystic Fibrosis Research Advances
- Potassium and Related Disorders
Mackay Memorial Hospital
2016-2025
Fu Jen Catholic University
2016-2025
Mackay Medical College
2021
National Taipei University of Technology
2010-2019
Czech Academy of Sciences, Institute of Biotechnology
2015
Mackay Junior College of Medicine, Nursing and Management
2008-2014
Abstract Background Alzheimer's disease (AD) is the most common cause of dementia characterized by progressive cognitive impairment in elderly people. The dramatic abnormalities are those cholinergic system. Acetylcholinesterase (AChE) plays a key role regulation system, and hence, inhibition AChE has emerged as one promising strategies for treatment AD. Methods In this study, we suggest workflow identification prioritization potential compounds targeted against AChE. order to elucidate...
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...
Indoxyl sulfate and p-cresylsulfate was associated with poor clinical outcome of uremia.We explored the relationship between two toxins renal function in chronic kidney disease (CKD) patients.This study enrolled 103 stable CKD patients (stage 3-5 hemodialysis (HD) patients).Serum levels indoxyl were measured using ultra performance liquid chromatography.General laboratory results patient background also checked.Patients advanced had higher serum sulfate, based on ANOVA test.There significant...
Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of α-L-iduronidase (IDUA) activity. MPS classified into three clinical phenotypes called Hurler, Scheie, and Hurler-Scheie syndromes according to their severity. Treatments for are available. Better outcomes associated with early treatment, which suggests need newborn screening I. The goal this study was determine whether measuring IDUA activity in dried blood on filter paper effective I.We conducted pilot...
Mucopolysaccharidoses (MPS) are lysosomal storage diseases in which mutations of genes encoding for enzymes cause defects the degradation glycosaminoglycans (GAGs). The accumulation GAGs lysosomes results cellular dysfunction and clinical abnormalities. early initiation enzyme replacement therapy (ERT) can slow or prevent development severe manifestations. MPS I II newborn screening has been available Taiwan since August 2015. Infants who failed recheck at recall were referred to MacKay...
Background Obesity is a complex, multifactorial disorder influenced by the interaction of genetic, epigenetic, and environmental factors. increases risk contracting many chronic diseases or metabolic syndrome. Researchers have established several mammalian models obesity to study its underlying mechanism. However, lower vertebrate model for conveniently performing drug screening against remains elusive. The specific aim this was create zebrafish over expressing insulin signaling hub Akt1...
The mucopolysaccharidoses (MPS) comprise a group of inherited lysosomal storage disorders characterized by deficiencies in enzymes catalyzing the degradation glycosaminoglycans. Impairment pulmonary function is an important health problem for patients with MPS. However, there are few published reports on prevalence and severity dysfunction relation to age treatment this disorder.To evaluate MPS, we performed spirometry 35 (22 males 13 females; 1 MPS I, 12 II, 16 IVA, 6 VI; mean age, 14.6 ±...
The identification of acid mucopolysaccharide by the liquid chromatography/tandem mass spectrometry method (LC-MS/MS) predominant disaccharide units glycosaminoglycans (GAGs) (chondroitin sulfate, CS; dermatan DS; heparan HS) after methanolysis is validated and applicable for mucopolysaccharidosis (MPS) type determination.A total 76 urine samples were collected analyzed, from nine MPS I patients, 13 II seven III eight VI 39 normal controls. Urinary GAG was first precipitated Alcian blue...
To evaluate the prevalence of obstructive sleep apnea (OSA) and to clarify characteristics in patients with mucopolysaccharidoses (MPS), we performed overnight polysomnographic studies 24 (22 males 2 females; 3 MPS I, 15 II, 1 III, IV, 4 VI; mean age, 10.8 ± 6.0 years; age range, 2.0–23.7 ≥18 years age). The nadir arterial oxygen saturation (SaO2) was 74.5 12.3%, average percentage time an SaO2 <95% 39.4%. percentages total spent stages N1, N2, N3, R were 18.6 10.8%, 50.3 7.6%, 14.8 8.1%,...
Previous studies have shown that serum p-cresyl sulfate (PCS) and indoxyl (IS) were significantly related to clinical outcomes in patients on hemodialysis (HD). However, evidence for the relationship elderly HD remains scarce. We explore whether two toxins can predict patients.Fifty stable more than 65 years old enrolled from a single medical center. Serum total free PCS, IS levels biochemistry measured concurrently. The including cardiovascular events all-cause mortality analyzed after...
Background/Aims . Previous studies have reported p-cresyl sulfate (PCS) was related to endothelial dysfunction and adverse clinical effect. We investigate the effects of PCS on outcomes in a chronic kidney disease (CKD) cohort study. Methods 72 predialysis patients were enrolled from single medical center. Serum biochemistry data measured. The including cardiovascular event, all-cause mortality, dialysis event recorded during 3-year follow-up. Results After adjusting other independent...
Background and Clinical Significance: Mucopolysaccharidosis type VII (MPS VII), an ultrarare lysosomal storage disorder caused by β-glucuronidase deficiency, presents significant therapeutic challenges. Given its extreme rarity limited treatment experience in Asian populations, documenting long-term outcomes is crucial for advancing clinical knowledge improving patient care. Case Presentation: We report a 3-year follow-up of enzyme replacement therapy (ERT) the first Taiwanese case MPS VII....
Background/Objectives: Mucopolysaccharidosis (MPS) is a group of progressive lysosomal storage disorders affecting multiple organ systems. Although newborn screening enables early detection, comprehensive imaging assessment during pre-symptomatic stages remains poorly understood. This study analyzed skeletal radiographic and cardiac abdominal ultrasonographic findings in infants diagnosed by to establish an integrated model. Methods: retrospective examined 277 patients (15 MPS I, 113 II, 127...
Background: Silver-Russell Syndrome (SRS) is a genetic disorder characterized by prenatal and postnatal growth retardation. Affected individuals commonly present with low birth weight, intrauterine restriction, short stature, hemihypotrophy, characteristic facial features, body asymmetry. Methods: This study included 24 Taiwanese children SRS aged 2 years to 13 3 months who were recruited at MacKay Memorial Hospital other Taiwan hospitals between January 2013 December 2024. Functional...
Background/Objectives: Mucopolysaccharidosis (MPS) is a group of progressive lysosomal storage disorders affecting multiple organ systems. Although newborn screening enables early detection, comprehensive imaging assessment during pre-symptomatic stages remains poorly understood. This study analyzed skeletal radiographic and cardiac abdominal ultrasonographic findings in infants diagnosed by to establish an integrated model. Methods: retrospective examined 277 screen-positive cases (15 MPS...
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,...
Patients with mucopolysaccharidoses (MPS) are associated poor bone growth and mineralization, however, information regarding the assessment of mineral density (BMD) in relation to age treatment this disorder is limited. Dual energy x-ray absorptiometry (DXA) was performed 30 patients MPS (21 males 9 females; 2 I, 12 II, IIIB, IVA, 5 VI; median age, 10.8 years; range, 5.0 years 23.7 26 were under 19 4 above age) assess BMD lumbar spine (L1-L4), using Hologic QDR 4500 system (Bedford, MA,...
Mucopolysaccharidosis IVA (MPS IVA) is a rare lysosomal storage disorder caused by N-acetylgalactosamine-6-sulfatase deficiency, which catalyzes step in the catabolism of glycosaminoglycans, keratan sulfate and chondroitin-6-sulfate. This disease has variable age onset rate progression. A retrospective analysis medical records 24 patients with MPS (11 males, 13 females; current mean ± SD, 12.6 6.6 years; range, 1.4-29.4 years) seen at 6 centers Taiwan from January 1996 through June 2013 was...