A5048080969- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Glycogen Storage Diseases and Myoclonus
- Carbohydrate Chemistry and Synthesis
- Glioma Diagnosis and Treatment
- Cellular transport and secretion
- Studies on Chitinases and Chitosanases
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Meningioma and schwannoma management
- Biochemical and Molecular Research
- Pharmacological Effects and Toxicity Studies
- RNA modifications and cancer
- Biomedical Research and Pathophysiology
- Neuroblastoma Research and Treatments
- Brain Metastases and Treatment
- Vagus Nerve Stimulation Research
- Autoimmune Bullous Skin Diseases
- Multiple Sclerosis Research Studies
- Fetal and Pediatric Neurological Disorders
- Chromatin Remodeling and Cancer
- Folate and B Vitamins Research
- EEG and Brain-Computer Interfaces
- Cardiomyopathy and Myosin Studies
- Psychosomatic Disorders and Their Treatments
Taipei Veterans General Hospital
2016-2025
National Yang Ming Chiao Tung University
2015-2025
Brock University
2023
National Yang Ming University Hospital
2008-2020
National Taipei University
2020
Taipei Institute of Pathology
2017
Abstract The aim of this study was to: (a) analyze the results a large‐scale newborn screening program for Pompe disease, and (b) establish an effective diagnostic protocol to obtain immediate, valid diagnosis infantile‐onset disease (IOPD) promote earlier treatment better outcomes. In study, 402,281 newborns were screened from January 1, 2008 May 2012. Infants with low acid α‐glucosidase (GAA) activity referred Taipei Veterans General Hospital confirmation. Physical examination, biochemical...
Background Since 1970, advances in Duchenne muscular dystrophy (DMD) management have significantly extended the patients’ life expectancy. However, DMD remains universally fatal. Objective To understand current standards and practices Asia to evaluate inconsistencies, unmet needs, future directions for patient region. Methods Clinical experts from Hong Kong, Singapore, Taiwan convened September 2023 discuss diagnosis, assessment, treatment, best practices. A pre-meeting survey was also...
Copy Number Variations (CNVs) involving 16p11.2 or 22q11.2 are often linked to neurodevelopmental and neuropsychiatric disorders, including autism spectrum disorder, attention deficit hyperactivity cognitive impairment, epilepsy, schizophrenia. The pathogenetic mechanisms underlying these neurological phenotypes remain incompletely understood, partly due the multitude of genes involved complex gene-gene interactions at loci. Nonetheless, recent advances in experimental technology...
Abstract BACKGROUND: Previous intracranial germinoma (IG) studies have investigated the effect of different radiotherapy (RT) volumes and necessity for adjunctive chemotherapy, but there is currently no consensus on best treatment this tumor. METHODS: From January 1989 to December 2009, 80 IG patients (≤20 years old) were treated with various RT regimens. Of them, 14 had craniospinal irradiation (CSI) + primary boost (PB); 8 whole‐brain (WBI) PB; 31 whole ventricular (WVI) 27 focal only....
Purpose: To determine the impact of initiating enzyme replacement therapy (ERT) with agalsidase alfa early in course Fabry disease, we evaluated renal and cardiac outcomes for ≤ 10 years after ERT initiation males from Outcome Survey (FOS). Patients Methods: Male patients FOS were stratified into three cohorts by age at initiation: 18 (cohort 1), > 30 2), 3). Analysis included symptom onset, diagnosis, initiation; duration; FOS-Mainz Severity Score Index (FOS-MSSI); estimated glomerular...
In Taiwan, DNA-based newborn screening showed a surprisingly high incidence of cardiac Fabry mutation (IVS4 + 919G > A). The prevalence this is too to be believed that it real pathogenic mutation. purpose study identify the pathologic characteristics in patients with left ventricular hypertrophy and mutationEndomyocardial biopsies were obtained 22 (Median age: 61, males: 17; females: 5) IVS4 A mutation; five had not received enzyme replacement therapy (ERT) before biopsy, while other 17 ERT...
In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 females) of cardiac Fabry mutation (IVS4 + 919G > A). However, the natural course, long-term treatment outcomes suitable biomarkers for monitoring therapeutic these patients are largely unknown.Fabry disease (FD) who had received enzyme replacement therapy (ERT) more than 1 year were enrolled this study from December 2008 to April 2013. Periodic echocardiography serum...
Previous studies revealed a high incidence of late-onset Fabry disease mutation, IVS4+919G>A, in Taiwan. However, the natural course is largely unclear and suitable biomarkers for monitoring progress are unavailable.Patients carrying IVS4+919G>A or classical mutations were enrolled this study. The subjects ranged from newborn to eighty year old adults. Plasma globotriaosylceramide (Gb3) globotriaosylsphingosine (lysoGb3) measured by LC-MS/MS evaluate sensitivity these two biomarkers. All...
Glutaric aciduria type 1 (GA-1) is an organic acidemia with potentially severe neurological sequelae. In Taiwan, newborn screening (NBS) for GA-1 began in 2001, but large-scale reporting lacking. This study describes Taiwan's largest population to date.Between 2001 and 2015, 1,490,636 newborns were screened GA-1. Confirmatory examinations included the carnitine loading test. Confirmed patients treated a low lysine diet, carnitine, high-energy intake during illness. Clinical, laboratory,...
Linear scleroderma is a form of localized characterized by sclerotic lesions distributed in linear, band-like pattern. The "en coup de sabre" subtype linear more often associated with systemic morbidity, including ocular, oral, and neurological abnormalities. Here, we report one patient typical (LSCS). Initially, he presented refractory partial seizures before the characteristic skins lesion on his head developed. This was rare case obvious brain parenchyma involvement. We did not prescribe...
Abstract FIRES (febrile infection‐related epilepsy syndrome) is a protracted neuroinflammatory condition of obscure cause. It mainly afflicts school‐age children and often leads to permanent neurological sequelae. Most treatments date have been limited efficacy, while ketogenic diet anti‐interleukin‐1 therapy appear beneficial for some patients. Research into this clinical entity hampered by its rarity complexity. Nonetheless, accumulating evidence derived from basic investigations...
Dravet syndrome (DS) is an uncommon epilepsy that may negatively affect the patients and their caregivers. However, reliable valid measures of its impact on caregivers characteristics with DS in Taiwan are lacking. This study aimed to describe concerns establish a baseline frequency disease using cross-sectional survey Taiwan. We assessed online anonymous questionnaire. The seizure decreased age, although lacking statistical significance. Vaccines show no influence condition DS. Our findings...
Fabry disease is an X-linked inherited lysosomal storage that can be treated with the enzymes of agalsidase beta (Fabrazyme) and alfa (Replagal). Since June 2009, viral contamination Genzyme's production facility has resulted in a worldwide shortage beta, leading to switch for patients Taiwan.The medical records were retrospectively reviewed nine male from start treatment until at least 1 year.After 12-112 months enzyme replacement therapy (ERT), decreased plasma globotriaosylsphingosine...