Wang‐Tso Lee
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View article: Updates of spinal muscular atrophy in advanced therapies
Updates of spinal muscular atrophy in advanced therapies Open
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by biallelic pathogenic variants in SMN1 gene, with disease severity mainly modified by SMN2 gene copies. There are remarkable advances in SMA treatment in the la…
View article: Evaluation of Bone Metabolic Activity in the Spine with 18 F-FDG and 18 F-NaF PET/CT Imaging: Associations with Degenerative Risk Factors
Evaluation of Bone Metabolic Activity in the Spine with 18 F-FDG and 18 F-NaF PET/CT Imaging: Associations with Degenerative Risk Factors Open
Purpose: Imaging vertebral molecular activity with positron emission tomography (PET)/computed tomography (CT) may enable earlier detection of degenerative diseases of the spine. This study aimed to evaluate patterns of vertebral molecular…
View article: Long-Term Influence of Pediatric Long COVID Syndrome on Visual Perception and Neuropsychiatric Symptoms
Long-Term Influence of Pediatric Long COVID Syndrome on Visual Perception and Neuropsychiatric Symptoms Open
Neuropsychiatric symptoms, impaired visual perception, and gray matter volume differences are evident in pediatric long COVID cases. The severity of neuropsychiatric symptoms during the acute phase may predict the degree of chronic-phase b…
View article: Exploring gastroprotective effect and mechanisms of epigallocatechin gallate‐impregnated black garlic in acidic ethanol‐induced gastric ulcer model mice
Exploring gastroprotective effect and mechanisms of epigallocatechin gallate‐impregnated black garlic in acidic ethanol‐induced gastric ulcer model mice Open
Background Peptic ulcers, particularly gastric ulcers (GUs), are multifactorial disorders with unclear mechanisms. Black garlic (BG) has shown gastroprotective effects. This study evaluated the effects of BG and epigallocatechin gallate‐im…
View article: The associated factors of nutritional issues and body composition in Rett syndrome
The associated factors of nutritional issues and body composition in Rett syndrome Open
Individuals with Rett syndrome (RTT), a rare neurodevelopmental disorder, often face significant nutritional challenges. We explored factors affecting nutritional status and body composition in RTT individuals using dietary assessments and…
View article: Gut microbiome and host TOR pathway interact to regulate predator-induced aversive memory in <i>Drosophila melanogaster</i>
Gut microbiome and host TOR pathway interact to regulate predator-induced aversive memory in <i>Drosophila melanogaster</i> Open
The gut microbiome has emerged as a key factor influencing a wide range of host physiological processes and behaviors, though the mechanisms behind these effects remain only partially understood. In this study, we explored the role of the …
View article: Machine learning to predict mitochondrial diseases by phenotypes
Machine learning to predict mitochondrial diseases by phenotypes Open
Diagnosing mitochondrial diseases remains challenging because of the heterogeneous symptoms. This study aims to use machine learning to predict mitochondrial diseases from phenotypes to reduce genetic testing costs. This study included pat…
View article: Lacosamide Is a Novel Drug That Improves AGTPBP1 Knockout-Mediated Impairment of Neuronal and Dopaminergic Function
Lacosamide Is a Novel Drug That Improves AGTPBP1 Knockout-Mediated Impairment of Neuronal and Dopaminergic Function Open
AGTPBP1 regulates microtubule stabilization through post-translational modification of alpha-tubulin. Mutations in the AGTPBP1 gene are associated with clinical phenotypes such as early postnatal cerebellar atrophy, ataxia, spasticity, and…
View article: Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan
Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from Taiwan Open
Background Recent findings indicate that infants with spinal muscular atrophy (SMA) treated early through newborn screening (NBS) have better outcomes. This study aimed to investigate the long-term outcomes of a 5-year SMA NBS program in T…
View article: Sufficient conditions for exact bifurcation curves in Minkowski curvature problems and their applications
Sufficient conditions for exact bifurcation curves in Minkowski curvature problems and their applications Open
In this paper, we continued and extended the work in [1,2,3] by establishing sufficient conditions to determine the exact shape of the bifurcation curve of positive solutions for the Minkowski curvature problem \begin{document}$ \left\{ \b…
View article: Pathogenic SHQ1 variants result in disruptions to neuronal development and the dopaminergic pathway
Pathogenic SHQ1 variants result in disruptions to neuronal development and the dopaminergic pathway Open
SHQ1 plays an essential role in brain development and dopaminergic function by upregulating dopaminergic pathways and regulating the behaviors of neural progenitors and their neuronal progeny, potentially leading to dystonia and developmen…
View article: Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report
Ataluren-mediated nonsense variant readthrough in D-bifunctional protein deficiency: A case report Open
D-bifunctional protein (DBP) deficiency, a fatal peroxisomal enzyme disorder, typically manifests with life-threatening symptoms in the first two years of childhood. We present the case of an infant with elevated lysophosphatidylcholine C2…
View article: Dravet-like syndrome with PCDH19 mutations in Taiwan ― A multicenter study
Dravet-like syndrome with PCDH19 mutations in Taiwan ― A multicenter study Open
PCDH19 epilepsy has distinct phenotypes and an unusual X-linked pattern of expression in which females manifest core symptoms. Psychiatric and behavioral problems are frequently part of the clinical picture. Patients are usually treated wi…
View article: Subjects’ Ability to Characterize g’s in Relation to Activities of Daily Living
Subjects’ Ability to Characterize g’s in Relation to Activities of Daily Living Open
The amount of force associated with a specific activity or event often utilizes g’s (g-force) and the unit of force. In litigation, biomechanics forensic experts provide general causation analysis of injury events, referencing the g’s of t…
View article: Developmental change of brain volume in Rett syndrome in Taiwan
Developmental change of brain volume in Rett syndrome in Taiwan Open
Objective Rett syndrome (RTT) is characterized by neurological regression. This pioneering study investigated the effect of age on brain volume reduction by analyzing magnetic resonance imaging findings in participants with RTT, ranging fr…
View article: High incidence of cerebrovascular lesions on magnetic resonance imaging in pediatric COVID-19 during omicron outbreak – A retrospective case series
High incidence of cerebrovascular lesions on magnetic resonance imaging in pediatric COVID-19 during omicron outbreak – A retrospective case series Open
A high proportion of vascular abnormalities was observed in pediatric patients with neurological involvements, suggesting that vascular involvement is an important mechanism of neurological manifestations in omicron variant infection.
View article: Neurological manifestations of SARS-CoV-2 infection in children in Taiwan: A cross-section, multicenter study
Neurological manifestations of SARS-CoV-2 infection in children in Taiwan: A cross-section, multicenter study Open
Neurological complications are common in pediatric COVID-19. Visual hallucination, seizure, behavior change, myoclonic jerk, decreased GCS, and hypoglycemia at admission are the most important warning signs of severe neurological involveme…
View article: The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients
The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients Open
Background Gilles de la Tourette syndrome (GTS) is a prevalent pediatric neurological disorder. Most studies point to abnormalities in the cortico-striato-thalamocortical (CSTC) circuits. Neuroimaging studies have shown GTS’s extensive imp…
View article: Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene <scp><i>NDUFAF5</i></scp>
Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene <span><i>NDUFAF5</i></span> Open
Background Rare mutations in NADH:ubiquinone oxidoreductase complex assembly factor 5 ( NDUFAF5 ) are linked to Leigh syndrome. Objective We aimed to describe clinical characteristics and functional findings in a patient cohort with NDUFAF…
View article: Clinical characteristics and factors associated with severe COVID-19 in hospitalized children during the SARS-CoV-2 Omicron pandemic in Taiwan
Clinical characteristics and factors associated with severe COVID-19 in hospitalized children during the SARS-CoV-2 Omicron pandemic in Taiwan Open
Vital signs need close monitoring, early management and/or intensive care may be applied in COVID-19 patients with congenital cardiovascular diseases, fever lasting ≥4 days, seizures, desaturation and/or elevated procalcition since they ar…
View article: Supplemental Methods from A Quantitative System for Studying Metastasis Using Transparent Zebrafish
Supplemental Methods from A Quantitative System for Studying Metastasis Using Transparent Zebrafish Open
This file provides additional information on reagents and software analysis of images.
View article: Supplemental Table 2 from A Quantitative System for Studying Metastasis Using Transparent Zebrafish
Supplemental Table 2 from A Quantitative System for Studying Metastasis Using Transparent Zebrafish Open
Supplemental Table 2. This data provides transcriptomic analysis of the ZMEL1 line (RNA-seq) along with GSEA analysis comparing ZMEL1 to either human melanomas or primary zebrafish transgenic melanomas.